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2020-10-26 19:38:45, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_005359               8789 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens SMAD family member 4 (SMAD4), mRNA.
ACCESSION   NM_005359
VERSION     NM_005359.5  GI:195963400
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 8789)
  AUTHORS   Yamada,D., Kobayashi,S., Wada,H., Kawamoto,K., Marubashi,S.,
            Eguchi,H., Ishii,H., Nagano,H., Doki,Y. and Mori,M.
  TITLE     Role of crosstalk between interleukin-6 and transforming growth
            factor-beta 1 in epithelial-mesenchymal transition and
            chemoresistance in biliary tract cancer
  JOURNAL   Eur. J. Cancer 49 (7), 1725-1740 (2013)
   PUBMED   23298711
  REMARK    GeneRIF: Results indicate that the crosstalk between IL-6 and
            TGF-beta1 is associated with malignant features, including
            epithelial-mesenchymal transition (EMT), and Smad4 works in a
            dominant manner to promote these features.
REFERENCE   2  (bases 1 to 8789)
  AUTHORS   Yang,H., Li,G., Wu,J.J., Wang,L., Uhler,M. and Simeone,D.M.
  TITLE     Protein kinase A modulates transforming growth factor-beta
            signaling through a direct interaction with Smad4 protein
  JOURNAL   J. Biol. Chem. 288 (12), 8737-8749 (2013)
   PUBMED   23362281
  REMARK    GeneRIF: Smad4 and the R subunit of the protein kinase A holoenzyme
            form a functional complex in vivo in response to TGFbeta.
REFERENCE   3  (bases 1 to 8789)
  AUTHORS   Teekakirikul,P., Milewicz,D.M., Miller,D.T., Lacro,R.V.,
            Regalado,E.S., Rosales,A.M., Ryan,D.P., Toler,T.L. and Lin,A.E.
  TITLE     Thoracic aortic disease in two patients with juvenile polyposis
            syndrome and SMAD4 mutations
  JOURNAL   Am. J. Med. Genet. A 161A (1), 185-191 (2013)
   PUBMED   23239472
  REMARK    GeneRIF: We found two patients with juvenile polyposis
            syndrome-hereditary hemorrhagic telangiectasia and thoracic aortic
            enlargement associated with SMAD4 mutations
REFERENCE   4  (bases 1 to 8789)
  AUTHORS   Zhou,S., Buckhaults,P., Zawel,L., Bunz,F., Riggins,G., Dai,J.L.,
            Kern,S.E., Kinzler,K.W. and Vogelstein,B.
  TITLE     Targeted deletion of Smad4 shows it is required for transforming
            growth factor beta and activin signaling in colorectal cancer cells
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 95 (5), 2412-2416 (1998)
   PUBMED   9482899
REFERENCE   5  (bases 1 to 8789)
  AUTHORS   Zawel,L., Dai,J.L., Buckhaults,P., Zhou,S., Kinzler,K.W.,
            Vogelstein,B. and Kern,S.E.
  TITLE     Human Smad3 and Smad4 are sequence-specific transcription
            activators
  JOURNAL   Mol. Cell 1 (4), 611-617 (1998)
   PUBMED   9660945
REFERENCE   6  (bases 1 to 8789)
  AUTHORS   Derynck,R., Gelbart,W.M., Harland,R.M., Heldin,C.H., Kern,S.E.,
            Massague,J., Melton,D.A., Mlodzik,M., Padgett,R.W., Roberts,A.B.,
            Smith,J., Thomsen,G.H., Vogelstein,B. and Wang,X.F.
  TITLE     Nomenclature: vertebrate mediators of TGFbeta family signals
  JOURNAL   Cell 87 (2), 173 (1996)
   PUBMED   8861901
REFERENCE   7  (bases 1 to 8789)
  AUTHORS   Zhang,Y., Feng,X., We,R. and Derynck,R.
  TITLE     Receptor-associated Mad homologues synergize as effectors of the
            TGF-beta response
  JOURNAL   Nature 383 (6596), 168-172 (1996)
   PUBMED   8774881
REFERENCE   8  (bases 1 to 8789)
  AUTHORS   Hahn,S.A., Schutte,M., Hoque,A.T., Moskaluk,C.A., da Costa,L.T.,
            Rozenblum,E., Weinstein,C.L., Fischer,A., Yeo,C.J., Hruban,R.H. and
            Kern,S.E.
  TITLE     DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1
  JOURNAL   Science 271 (5247), 350-353 (1996)
   PUBMED   8553070
REFERENCE   9  (bases 1 to 8789)
  AUTHORS   Beijersbergen,R.L., Kerkhoven,R.M., Zhu,L., Carlee,L.,
            Voorhoeve,P.M. and Bernards,R.
  TITLE     E2F-4, a new member of the E2F gene family, has oncogenic activity
            and associates with p107 in vivo
  JOURNAL   Genes Dev. 8 (22), 2680-2690 (1994)
   PUBMED   7958925
REFERENCE   10 (bases 1 to 8789)
  AUTHORS   Ginsberg,D., Vairo,G., Chittenden,T., Xiao,Z.X., Xu,G.,
            Wydner,K.L., DeCaprio,J.A., Lawrence,J.B. and Livingston,D.M.
  TITLE     E2F-4, a new member of the E2F transcription factor family,
            interacts with p107
  JOURNAL   Genes Dev. 8 (22), 2665-2679 (1994)
   PUBMED   7958924
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU120224.1, BC002379.2,
            AC091551.14 and BM701399.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Aug 8, 2008 this sequence version replaced gi:164565433.
            
            Summary: This gene encodes a member of the Smad family of signal
            transduction proteins. Smad proteins are phosphorylated and
            activated by transmembrane serine-threonine receptor kinases in
            response to TGF-beta signaling. The product of this gene forms
            homomeric complexes and heteromeric complexes with other activated
            Smad proteins, which then accumulate in the nucleus and regulate
            the transcription of target genes. This protein binds to DNA and
            recognizes an 8-bp palindromic sequence (GTCTAGAC) called the
            Smad-binding element (SBE). The Smad proteins are subject to
            complex regulation by post-translational modifications. Mutations
            or deletions in this gene have been shown to result in pancreatic
            cancer, juvenile polyposis syndrome, and hereditary hemorrhagic
            telangiectasia syndrome. [provided by RefSeq, Oct 2009].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: BC002379.2, U44378.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    ERS025081, ERS025082 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-457               AU120224.1         1-457
            458-3507            BC002379.2         153-3202
            3508-8346           AC091551.14        127863-132701
            8347-8789           BM701399.1         1-443
FEATURES             Location/Qualifiers
     source          1..8789
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     gene            1..8789
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /note="SMAD family member 4"
                     /db_xref="GeneID:4089"
                     /db_xref="HGNC:6770"
                     /db_xref="HPRD:02995"
                     /db_xref="MIM:600993"
     exon            1..411
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /inference="alignment:Splign:1.39.8"
     variation       177
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377412110"
     exon            412..787
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /inference="alignment:Splign:1.39.8"
     variation       488
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369978812"
     variation       508
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:200236229"
     misc_feature    518..520
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /note="upstream in-frame stop codon"
     CDS             539..2197
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /note="deleted in pancreatic carcinoma locus 4; mothers
                     against decapentaplegic, Drosophila, homolog of, 4; MAD
                     homolog 4; deletion target in pancreatic carcinoma 4;
                     SMAD, mothers against DPP homolog 4"
                     /codon_start=1
                     /product="mothers against decapentaplegic homolog 4"
                     /protein_id="NP_005350.1"
                     /db_xref="GI:4885457"
                     /db_xref="CCDS:CCDS11950.1"
                     /db_xref="GeneID:4089"
                     /db_xref="HGNC:6770"
                     /db_xref="HPRD:02995"
                     /db_xref="MIM:600993"
                     /translation="
MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDGRLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKDEYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQIASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAPEYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVRCLSDHAVFVQSYYLDREAGRAPGDAVHKIYPSAYIKVFDLRQCHRQMQQQAATAQAAAAAQAAAVAGNIPGPGSVGGIAPAISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWIEIHLHRALQLLDEVLHTMPIADPQPLD
"
     misc_feature    578..952
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /note="N-terminal Mad Homology 1 (MH1) domain in SMAD4;
                     Region: MH1_SMAD_4; cd10492"
                     /db_xref="CDD:199816"
     misc_feature    647..649
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine; propagated from
                     UniProtKB/Swiss-Prot (Q13485.1); acetylation site"
     misc_feature    order(650..652,662..664,671..673,767..772,779..793,
                     800..802,854..859)
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:199816"
     misc_feature    order(749..751,881..883,917..919,932..934)
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /note="Zn binding site [ion binding]; other site"
                     /db_xref="CDD:199816"
     misc_feature    875..877
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="sumoylation site; modified site"
                     /db_xref="HPRD:09045"
     misc_feature    875..877
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="sumoylation site; modified site"
                     /db_xref="HPRD:16029"
     misc_feature    1013..1015
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="sumoylation site; modified site"
                     /db_xref="HPRD:09045"
     misc_feature    1013..1015
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="sumoylation site; modified site"
                     /db_xref="HPRD:16029"
     misc_feature    1361..1498
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q13485.1);
                     Region: SAD"
     misc_feature    1367..1369
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:01496"
     misc_feature    1496..2161
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /note="C-terminal Mad Homology 2 (MH2) domain in SMAD4;
                     Region: MH2_SMAD_4; cd10498"
                     /db_xref="CDD:199823"
     misc_feature    order(1523..1525,1532..1534,1547..1552,1595..1609,
                     1619..1621,1631..1642,1646..1654,1667..1669,1679..1684,
                     1688..1690,1997..2005,2015..2017,2024..2026,2093..2095,
                     2114..2116,2120..2122,2126..2128,2135..2137,2144..2149,
                     2159..2161)
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /note="trimer interface [polypeptide binding]; other site"
                     /db_xref="CDD:199823"
     misc_feature    1820..1822
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine; propagated from
                     UniProtKB/Swiss-Prot (Q13485.1); acetylation site"
     misc_feature    2057..2059
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine; propagated from
                     UniProtKB/Swiss-Prot (Q13485.1); acetylation site"
     misc_feature    2081..2083
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Necessary for heterotrimerization; propagated from
                     UniProtKB/Swiss-Prot (Q13485.1); other site"
     variation       558
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372316981"
     variation       559
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142292491"
     variation       576
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:281875323"
     variation       577
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376371717"
     variation       640
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146104321"
     variation       718
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201239868"
     exon            788..962
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /inference="alignment:Splign:1.39.8"
     variation       832
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202126703"
     variation       839
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:2229083"
     variation       840
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377767323"
     variation       892
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145988618"
     variation       907
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140926102"
     variation       911..912
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="at"
                     /db_xref="dbSNP:377767324"
     variation       919..920
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="tgtctgt"
                     /db_xref="dbSNP:377767325"
     variation       925
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150229208"
     variation       941
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377767326"
     variation       949
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201296880"
     exon            963..992
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /inference="alignment:Splign:1.39.8"
     variation       968..969
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="tc"
                     /db_xref="dbSNP:377767328"
     variation       975
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:377767329"
     exon            993..1205
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /inference="alignment:Splign:1.39.8"
     variation       1002
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199790852"
     variation       1048
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144226135"
     variation       1054..1065
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="gtccactgaagg"
                     /db_xref="dbSNP:377767330"
     variation       1059
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:138800446"
     variation       1063
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368528856"
     variation       1071
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:377767331"
     variation       1076
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377767332"
     variation       1103
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140743238"
     variation       1106
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:61751988"
     variation       1108
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200717327"
     variation       1120
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145805120"
     variation       1145
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:199809905"
     variation       1146
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:377767333"
     variation       1185
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138386557"
     variation       1198
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112891188"
     exon            1206..1325
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /inference="alignment:Splign:1.39.8"
     variation       1224
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:75667697"
     STS             1229..1416
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /standard_name="PMC86557P1"
                     /db_xref="UniSTS:273533"
     variation       1230..1231
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:377767334"
     variation       1237
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367964910"
     variation       1267..1268
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="ccgc"
                     /db_xref="dbSNP:377767335"
     variation       1284
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:371536364"
     variation       1285
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:372095620"
     exon            1326..1442
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /inference="alignment:Splign:1.39.8"
     variation       1347
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143082783"
     variation       1367..1368
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="ac"
                     /db_xref="dbSNP:377767336"
     variation       1369..1370
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="ac"
                     /db_xref="dbSNP:377767337"
     variation       1390
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144378484"
     variation       1418
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:7238500"
     variation       1422
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370176106"
     exon            1443..1493
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /inference="alignment:Splign:1.39.8"
     variation       1447
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141149381"
     variation       1448
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375185293"
     variation       1465
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369088915"
     variation       1466..1467
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="gcat"
                     /db_xref="dbSNP:377767338"
     variation       1485
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377119288"
     exon            1494..1677
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /inference="alignment:Splign:1.39.8"
     STS             1505..1673
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /standard_name="AF010230"
                     /db_xref="UniSTS:105082"
     variation       1508
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377767339"
     variation       1509
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:377767340"
     variation       1520..1521
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:377767341"
     variation       1526
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377767342"
     variation       1527
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:281875324"
     variation       1575
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:377767343"
     variation       1580..1581
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="gt"
                     /db_xref="dbSNP:377767344"
     variation       1592
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:121912581"
     variation       1593
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377767345"
     variation       1596
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:377767346"
     variation       1610
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:121912576"
     variation       1619
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:80338963"
     variation       1620
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:377767347"
     variation       1624
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1801250"
     variation       1625
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377767348"
     variation       1626..1628
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="gtt"
                     /db_xref="dbSNP:377767349"
     variation       1629
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:377767350"
     variation       1640..1641
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="tc"
                     /db_xref="dbSNP:377767351"
     variation       1644
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139569694"
     variation       1651
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:377767352"
     variation       1658
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201092541"
     variation       1660
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373141146"
     variation       1677
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377767353"
     exon            1678..1846
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /inference="alignment:Splign:1.39.8"
     variation       1686
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:377767355"
     variation       1695
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:121912580"
     variation       1700
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:80338964"
     variation       1706
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377767356"
     variation       1731
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377767357"
     variation       1756
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:145097078"
     variation       1757
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:147621330"
     variation       1774
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:121912577"
     variation       1780
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:377767358"
     variation       1782..1785
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="acag"
                     /db_xref="dbSNP:80338965"
     variation       1806
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:377767359"
     variation       1837
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370558697"
     exon            1847..1985
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /inference="alignment:Splign:1.39.8"
     variation       1871
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377767360"
     variation       1876
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372065822"
     variation       1880
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377767361"
     variation       1881..1903
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="agcagcaggcggctactgcacaa"
                     /db_xref="dbSNP:377767362"
     variation       1899..1902
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="caca"
                     /db_xref="dbSNP:377767363"
     variation       1930
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140487104"
     variation       1947..1948
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="ccct"
                     /db_xref="dbSNP:377767364"
     variation       1949..1973
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="ggcccaggatcagtaggtggaatag"
                     /db_xref="dbSNP:377767365"
     variation       1959
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:377767366"
     exon            1986..8772
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /inference="alignment:Splign:1.39.8"
     variation       2010
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:377767367"
     variation       2015
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:121912578"
     variation       2016
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:377767368"
     variation       2036
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:281875322"
     variation       2037
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:281875321"
     variation       2038
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:281875320"
     variation       2063
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:377767369"
     variation       2065
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377767370"
     variation       2067
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:377767371"
     variation       2081
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:121912579"
     variation       2082
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:377767372"
     variation       2088..2089
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="agag"
                     /db_xref="dbSNP:377767373"
     variation       2102..2103
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="cc"
                     /db_xref="dbSNP:377767374"
     variation       2109
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:377767375"
     variation       2111
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149755320"
     variation       2125..2126
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="a"
                     /replace="ta"
                     /db_xref="dbSNP:377767376"
     variation       2126
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:377767377"
     variation       2132
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:377767378"
     variation       2134..2135
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="cc"
                     /replace="t"
                     /db_xref="dbSNP:377767379"
     variation       2134
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:377767380"
     variation       2135
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:377767381"
     variation       2136
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:377767382"
     variation       2138
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377767383"
     variation       2145..2146
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:377767384"
     variation       2149
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369598262"
     variation       2150..2163
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="gaagtacttcatac"
                     /db_xref="dbSNP:377767385"
     variation       2173
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200595795"
     variation       2185
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113545983"
     variation       2191
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199526820"
     STS             2192..2416
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /standard_name="RH75869"
                     /db_xref="UniSTS:88461"
     variation       2208
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11663402"
     variation       2209
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148687037"
     variation       2223
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374562658"
     STS             2277..3086
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /standard_name="MADH4_174"
                     /db_xref="UniSTS:277461"
     variation       2288
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1049875"
     variation       2367..2368
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:199787250"
     variation       2609
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:28403611"
     variation       2659
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191822473"
     variation       2780
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:142236156"
     variation       2786
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:79955608"
     variation       2882
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:16952798"
     variation       2911
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371124732"
     variation       2959
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371163706"
     variation       3005
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:183984903"
     variation       3031
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:190076139"
     variation       3063..3064
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:35675831"
     STS             3353..3452
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /standard_name="D18S903E"
                     /db_xref="UniSTS:150513"
     variation       3366..3370
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="ccatc"
                     /db_xref="dbSNP:138404813"
     variation       3376
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:10470"
     variation       3381
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375691219"
     variation       3384
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:181664459"
     polyA_signal    3486..3491
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
     polyA_site      3517
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
     variation       3553
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:78407704"
     variation       3556
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:185104256"
     variation       3607
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:199846258"
     variation       3654..3655
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:34542515"
     variation       3695..3696
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:371058219"
     variation       3710
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:75142398"
     variation       3815
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:56734884"
     variation       3866
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:145643623"
     variation       3881
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:146563723"
     variation       3949
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:79279451"
     variation       4017
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:141309481"
     variation       4029
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:190742750"
     variation       4049
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:182092812"
     variation       4063
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:4940037"
     variation       4091
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:185229497"
     variation       4126..4127
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="tt"
                     /db_xref="dbSNP:151147707"
     variation       4138
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:138909220"
     variation       4207
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:12327465"
     variation       4319
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149424787"
     STS             4375..4463
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /standard_name="D8S2279"
                     /db_xref="UniSTS:473907"
     variation       4469
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:189547031"
     variation       4532
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:181201259"
     variation       4558
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143842829"
     variation       4685
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:148190627"
     variation       4698
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:185349233"
     variation       4859
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:191637734"
     variation       4884
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:78321956"
     variation       4993
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:4939651"
     variation       5111
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147352474"
     variation       5116
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:183785604"
     variation       5124
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:186751378"
     variation       5167
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192485057"
     variation       5186
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139526377"
     variation       5215..5216
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:35658729"
     variation       5230..5231
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="gttttttt"
                     /db_xref="dbSNP:144777629"
     variation       5400
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:183255810"
     STS             5401..5563
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /standard_name="RH66749"
                     /db_xref="UniSTS:67183"
     variation       5412
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:186807250"
     variation       5485
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:191317135"
     variation       5595
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:182735651"
     polyA_signal    5615..5620
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
     polyA_site      5632
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
     variation       5859
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:114852346"
     variation       5948..5949
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:202070730"
     variation       5957
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:12961857"
     variation       6068..6069
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:373831598"
     variation       6181
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376846816"
     variation       6411
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368065509"
     variation       6415
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143563979"
     variation       6418
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:150556996"
     variation       6459
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:371901376"
     variation       6628
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:188404885"
     variation       6732
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:377120415"
     variation       6780..6781
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:138276731"
     variation       6782
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:192635281"
     variation       6784..6787
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="gaga"
                     /db_xref="dbSNP:374333786"
     variation       6840
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369040052"
     variation       6883
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:185468281"
     variation       6917
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:189948351"
     variation       6945
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375580807"
     variation       6950
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112739300"
     variation       7044
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192532745"
     variation       7059
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139595540"
     variation       7071
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:372089678"
     variation       7078
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:184516281"
     variation       7136..7137
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:34159851"
     variation       7165
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149743165"
     variation       7184
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:188228460"
     variation       7191..7192
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:113155703"
     variation       7280
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145596898"
     variation       7328
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:12456284"
     variation       7367
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:117142232"
     variation       7369
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369615750"
     variation       7393
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:74878872"
     variation       7456
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:139414609"
     STS             7506..7796
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /standard_name="D18S1110"
                     /db_xref="UniSTS:70066"
     variation       7556
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144187949"
     variation       7585
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:180715759"
     variation       7616
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146551171"
     variation       7728..7735
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="gcgcacgc"
                     /db_xref="dbSNP:112458358"
     variation       7728..7733
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="gcgcac"
                     /db_xref="dbSNP:147193925"
     variation       7729..7736
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="cgcacgcg"
                     /db_xref="dbSNP:71729176"
     variation       7732
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:75712226"
     variation       7733..7734
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="cg"
                     /db_xref="dbSNP:147683428"
     variation       7735..7748
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="cgcgcgcgcacaca"
                     /db_xref="dbSNP:144218127"
     variation       7742..7743
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="ca"
                     /db_xref="dbSNP:372635676"
     variation       7743..7744
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="caca"
                     /replace="cg"
                     /replace="gc"
                     /db_xref="dbSNP:68159021"
     variation       7744..7745
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="gc"
                     /db_xref="dbSNP:71848207"
     variation       7744
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:11662245"
     variation       7748
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="acgcgcgcgcgcgcacaca"
                     /replace="gcg"
                     /db_xref="dbSNP:74169183"
     variation       7748
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202140561"
     variation       7753..7758
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="cacaca"
                     /db_xref="dbSNP:71662571"
     variation       7760..7765
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="acacac"
                     /db_xref="dbSNP:72363283"
     variation       7774..7775
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="caca"
                     /db_xref="dbSNP:56017493"
     variation       7823
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:75998234"
     variation       7824
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:185010226"
     variation       7827..7830
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="caca"
                     /db_xref="dbSNP:146919169"
     variation       7828..7829
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="ac"
                     /db_xref="dbSNP:372401829"
     variation       7830..7833
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="acac"
                     /db_xref="dbSNP:368759758"
     variation       7838
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:376879710"
     variation       7886..7888
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="att"
                     /db_xref="dbSNP:149335502"
     variation       7888..7890
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="tat"
                     /db_xref="dbSNP:374306389"
     variation       8030
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190039588"
     variation       8058..8062
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="aagaa"
                     /db_xref="dbSNP:140241965"
     variation       8058
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="aagaa"
                     /db_xref="dbSNP:71659492"
     variation       8060..8064
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="gaaaa"
                     /db_xref="dbSNP:78989198"
     variation       8060
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200482328"
     variation       8110
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370152218"
     variation       8184
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:12954419"
     variation       8191
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:3819122"
     variation       8206
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:181250637"
     variation       8259
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:12959147"
     variation       8261
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:12960005"
     variation       8347
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:187018810"
     variation       8376..8377
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:35671610"
     variation       8405
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:191403347"
     variation       8494..8496
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace=""
                     /replace="aga"
                     /db_xref="dbSNP:374856670"
     STS             8516..8607
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /standard_name="SHGC-56739"
                     /db_xref="UniSTS:9636"
     variation       8606
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:76830638"
     variation       8620
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2282544"
     variation       8710
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:76020793"
     variation       8719
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:183472455"
     polyA_signal    8750..8755
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
     polyA_site      8772
                     /gene="SMAD4"
                     /gene_synonym="DPC4; JIP; MADH4; MYHRS"
ORIGIN      
atgctcagtggcttctcgacaagttggcagcaacaacacggccctggtcgtcgtcgccgctgcggtaacggagcggtttgggtggcggagcctgcgttcgcgccttcccgctctcctcgggaggcccttcctgctctcccctaggctccgcggccgcccagggggtgggagcgggtgaggggagccaggcgcccagcgagagaggccccccgccgcagggcggcccgggagctcgaggcggtccggcccgcgcgggcagcggcgcggcgctgaggaggggcggcctggccgggacgcctcggggcgggggccgaggagctctccgggccgccggggaaagctacgggcccggtgcgtccgcggaccagcagcgcgggagagcggactcccctcgccaccgcccgagcccaggttatcctgaatacatgtctaacaattttccttgcaacgttagctgttgtttttcactgtttccaaaggatcaaaattgcttcagaaattggagacatatttgatttaaaaggaaaaacttgaacaaatggacaatatgtctattacgaatacaccaacaagtaatgatgcctgtctgagcattgtgcatagtttgatgtgccatagacaaggtggagagagtgaaacatttgcaaaaagagcaattgaaagtttggtaaagaagctgaaggagaaaaaagatgaattggattctttaataacagctataactacaaatggagctcatcctagtaaatgtgttaccatacagagaacattggatgggaggcttcaggtggctggtcggaaaggatttcctcatgtgatctatgcccgtctctggaggtggcctgatcttcacaaaaatgaactaaaacatgttaaatattgtcagtatgcgtttgacttaaaatgtgatagtgtctgtgtgaatccatatcactacgaacgagttgtatcacctggaattgatctctcaggattaacactgcagagtaatgctccatcaagtatgatggtgaaggatgaatatgtgcatgactttgagggacagccatcgttgtccactgaaggacattcaattcaaaccatccagcatccaccaagtaatcgtgcatcgacagagacatacagcaccccagctctgttagccccatctgagtctaatgctaccagcactgccaactttcccaacattcctgtggcttccacaagtcagcctgccagtatactggggggcagccatagtgaaggactgttgcagatagcatcagggcctcagccaggacagcagcagaatggatttactggtcagccagctacttaccatcataacagcactaccacctggactggaagtaggactgcaccatacacacctaatttgcctcaccaccaaaacggccatcttcagcaccacccgcctatgccgccccatcccggacattactggcctgttcacaatgagcttgcattccagcctcccatttccaatcatcctgctcctgagtattggtgttccattgcttactttgaaatggatgttcaggtaggagagacatttaaggttccttcaagctgccctattgttactgttgatggatacgtggacccttctggaggagatcgcttttgtttgggtcaactctccaatgtccacaggacagaagccattgagagagcaaggttgcacataggcaaaggtgtgcagttggaatgtaaaggtgaaggtgatgtttgggtcaggtgccttagtgaccacgcggtctttgtacagagttactacttagacagagaagctgggcgtgcacctggagatgctgttcataagatctacccaagtgcatatataaaggtctttgatttgcgtcagtgtcatcgacagatgcagcagcaggcggctactgcacaagctgcagcagctgcccaggcagcagccgtggcaggaaacatccctggcccaggatcagtaggtggaatagctccagctatcagtctgtcagctgctgctggaattggtgttgatgaccttcgtcgcttatgcatactcaggatgagttttgtgaaaggctggggaccggattacccaagacagagcatcaaagaaacaccttgctggattgaaattcacttacaccgggccctccagctcctagacgaagtacttcataccatgccgattgcagacccacaacctttagactgaggtcttttaccgttggggcccttaaccttatcaggatggtggactacaaaatacaatcctgtttataatctgaagatatatttcacttttgttctgctttatcttttcataaagggttgaaaatgtgtttgctgccttgctcctagcagacagaaactggattaaaacaattttttttttcctcttcagaacttgtcaggcatggctcagagcttgaagattaggagaaacacattcttattaattcttcacctgttatgtatgaaggaatcattccagtgctagaaaatttagccctttaaaacgtcttagagccttttatctgcagaacatcgatatgtatatcattctacagaataatccagtattgctgattttaaaggcagagaagttctcaaagttaattcacctatgttattttgtgtacaagttgttattgttgaacatacttcaaaaataatgtgccatgtgggtgagttaattttaccaagagtaactttactctgtgtttaaaaagtaagttaataatgtattgtaatctttcatccaaaatattttttgcaagttatattagtgaagatggtttcaattcagattgtcttgcaacttcagttttatttttgccaaggcaaaaaactcttaatctgtgtgtatattgagaatcccttaaaattaccagacaaaaaaatttaaaattacgtttgttattcctagtggatgactgttgatgaagtatacttttcccctgttaaacagtagttgtattcttctgtatttctaggcacaaggttggttgctaagaagcctataagaggaatttcttttccttcattcatagggaaaggttttgtattttttaaaacactaaaagcagcgtcactctacctaatgtctcactgttctgcaaaggtggcaatgcttaaactaaataatgaataaactgaatattttggaaactgctaaattctatgttaaatactgtgcagaataatggaaacattacagttcataataggtagtttggatatttttgtacttgatttgatgtgactttttttggtataatgtttaaatcatgtatgttatgatattgtttaaaattcagtttttgtatcttggggcaagactgcaaacttttttatatcttttggttattctaagccctttgccatcaatgatcatatcaattggcagtgactttgtatagagaatttaagtagaaaagttgcagatgtattgactgtaccacagacacaatatgtatgctttttacctagctggtagcataaataaaactgaatctcaacatacaaagttgaattctaggtttgatttttaagattttttttttcttttgcacttttgagtccaatctcagtgatgaggtaccttctactaaatgacaggcaacagccagttctattgggcagctttgtttttttccctcacactctaccgggacttccccatggacattgtgtatcatgtgtagagttggttttttttttttttaatttttattttactatagcagaaatagacctgattatctacaagatgataaatagattgtctacaggataaatagtatgaaataaaatcaaggattatctttcagatgtgtttacttttgcctggagaacttttagctatagaaacacttgtgtgatgatagtcctccttatatcacctggaatgaacacagcttctactgccttgctcagaaggtcttttaaatagaccatcctagaaaccactgagtttgcttatttctgtgatttaaacatagatcttgatccaagctacatgacttttgtctttaaataacttatctaccacctcatttgtactcttgattacttacaaattctttcagtaaacacctaattttcttctgtaaaagtttggtgatttaagttttattggcagttttataaaaagacatcttctctagaaattgctaactttaggtccattttactgtgaatgaggaataggagtgagttttagaataacagatttttaaaaatccagatgatttgattaaaaccttaatcatacattgacataattcattgcttcttttttttgagatatggagtcttgctgtgttgcccaggcaggagtgcagtggtatgatctcagctcactgcaacctctgcctcccgggttcaactgattctcctgcctcagcctccctggtagctaggattacaggtgcccgccaccatgcctggctaacttttgtagttttagtagagacggggttttgcctgttggccaggctggtcttgaactcctgacctcaagtgatccatccaccttggcctcccaaagtgctgggattacgggcgtgagccactgtccctggcctcattgttcccttttctactttaaggaaagttttcatgtttaatcatctggggaaagtatgtgaaaaatatttgttaagaagtatctctttggagccaagccacctgtcttggtttctttctactaagagccataaagtatagaaatacttctagttgttaagtgcttatatttgtacctagatttagtcacacgcttttgagaaaacatctagtatgttatgatcagctattcctgagagcttggttgttaatctatatttctatttcttagtggtagtcatctttgatgaataagactaaagattctcacaggtttaaaattttatgtctactttaagggtaaaattatgaggttatggttctgggtgggttttctctagctaattcatatctcaaagagtctcaaaatgttgaatttcagtgcaagctgaatgagagatgagccatgtacacccaccgtaagacctcattccatgtttgtccagtgcctttcagtgcattatcaaagggaatccttcatggtgttgcctttattttccggggagtagatcgtgggatatagtctatctcatttttaatagtttaccgcccctggtatacaaagataatgacaataaatcactgccatataaccttgctttttccagaaacatggctgttttgtattgctgtaaccactaaataggttgcctataccattcctcctgtgaacagtgcagatttacaggttgcatggtctggcttaaggagagccatacttgagacatgtgagtaaactgaactcatattagctgtgctgcatttcagacttaaaatccatttttgtggggcagggtgtggtgtgtaaaggggggtgtttgtaatacaagttgaaggcaaaataaaatgtcctgtctcccagatgatatacatcttattatttttaaagtttattgctaattgtaggaaggtgagttgcaggtatctttgactatggtcatctggggaaggaaaattttacattttactattaatgctccttaagtgtctatggaggttaaagaataaaatggtaaatgtttctgtgcctggtttgatggtaactggttaatagttactcaccattttatgcagagtcacattagttcacaccctttctgagagccttttgggagaagcagttttattctctgagtggaacagagttctttttgttgataatttctagtttgctcccttcgttattgccaactttactggcattttatttaatgatagcagattgggaaaatggcaaatttaggttacggaggtaaatgagtatatgaaagcaattacctctaaagccagttaacaattattttgtaggtggggtacactcagcttaaagtaatgcatttttttttcccgtaaaggcagaatccatcttgttgcagatagctatctaaataatctcatatcctcttttgcaaagactacagagaataggctatgacaatcttgttcaagcctttccatttttttccctgataactaagtaatttctttgaacataccaagaagtatgtaaaaagtccatggccttattcatccacaaagtggcatcctaggcccagccttatccctagcagttgtcccagtgctgctaggttgcttatcttgtttatctggaatcactgtggagtgaaattttccacatcatccagaattgccttatttaagaagtaaaacgttttaatttttagcctttttttggtggagttatttaatatgtatatcagaggatatactagatggtaacatttctttctgtgcttggctatctttgtggacttcaggggcttctaaaacagacaggactgtgttgcctttactaaatggtctgagacagctatggttttgaatttttagttttttttttttaacccacttcccctcctggtctcttccctctctgataattaccattcatatgtgagtgttagtgtgcctccttttagcattttcttcttctctttctgattcttcatttctgactgcctaggcaaggaaaccagataaccaaacttactagaacgttctttaaaacacaagtacaaactctgggacaggacccaagacactttcctgtgaagtgctgaaaaagacctcattgtattggcatttgatatcagtttgatgtagcttagagtgcttcctgattcttgctgagtttcaggtagttgagatagagagaagtgagtcatattcatattttcccccttagaataatattttgaaaggtttcattgcttccacttgaatgctgctcttacaaaaactggggttacaagggttactaaattagcatcagtagccagaggcaataccgttgtctggaggacaccagcaaacaacacacaacaaagcaaaacaaaccttgggaaactaaggccatttgttttgttttggtgtcccctttgaagccctgccttctggccttactcctgtacagatatttttgacctataggtgcctttatgagaattgagggtctgacatcctgccccaaggagtagctaaagtaattgctagtgttttcagggattttaacatcagactggaatgaatgaatgaaactttttgtcctttttttttctgtttttttttttctaatgtagtaaggactaaggaaaacctttggtgaagacaatcatttctctctgttgatgtggatacttttcacaccgtttatttaaatgctttctcaataggtccagagccagtgttcttgttcaacctgaaagtaatggctctgggttgggccagacagttgcactctctagtttgccctctgccacaaatttgatgtgtgacctttgggcaagtcatttatcttctctgggccttagttgcctcatctgtaaaatgagggagttggagtagattaattattccagctctgaaattctaagtgaccttggctaccttgcagcagttttggatttcttccttatctttgttctgctgtttgagggggctttttacttatttccatgttattcaaaggagactaggcttgatattttattactgttcttttatggacaaaaggttacatagtatgcccttaagacttaattttaaccaaaggcctagcaccaccttaggggctgcaataaacacttaacgcgcgtgcgcacgcgcgcgcgcacacacacacacacacacacacacacacacaggtcagagtttaaggctttcgagtcatgacattctagcttttgaattgcgtgcacacacacacgcacgcacacactctggtcagagtttattaaggctttcgagtcatgacattatagcttttgagttggtgtgtgtgacaccaccctcctaagtggtgtgtgcttgtaattttttttttcagtgaaaatggattgaaaacctgttgttaatgcttagtgatattatgctcaaaacaaggaaattcccttgaaccgtgtcaattaaactggtttatatgactcaagaaaacaataccagtagatgattattaactttattcttggctctttttaggtccattttgattaagtgacttttggctggatcattcagagctctcttctagcctacccttggatgagtacaattaatgaaattcatattttcaaggacctgggagccttccttggggctgggttgagggtggggggttggggagtcctggtagaggccagctttgtggtagctggagaggaagggatgaaaccagctgctgttgcaaaggctgcttgtcattgatagaaggactcacgggcttggattgattaagactaaacatggagttggcaaactttcttcaagtattgagttctgttcaatgcattggacatgtgatttaagggaaaagtgtgaatgcttatagatgatgaaaacctggtgggctgcagagcccagtttagaagaagtgagttgggggttggggacagatttggtggtggtatttcccaactgtttcctcccctaaattcagaggaatgcagctatgccagaagccagagaagagccactcgtagcttctgctttggggacaactggtcagttgaaagtcccaggagttcctttgtggctttctgtatacttttgcctggttaaagtctgtggctaaaaaatagtcgaacctttcttgagaactctgtaacaaagtatgtttttgattaaaagagaaagccaactaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:4089 -> Molecular function: GO:0000987 [core promoter proximal region sequence-specific DNA binding] evidence: IDA
            GeneID:4089 -> Molecular function: GO:0000988 [protein binding transcription factor activity] evidence: IDA
            GeneID:4089 -> Molecular function: GO:0001076 [RNA polymerase II transcription factor binding transcription factor activity] evidence: IEA
            GeneID:4089 -> Molecular function: GO:0001085 [RNA polymerase II transcription factor binding] evidence: IEA
            GeneID:4089 -> Molecular function: GO:0003677 [DNA binding] evidence: IDA
            GeneID:4089 -> Molecular function: GO:0003682 [chromatin binding] evidence: IEA
            GeneID:4089 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IDA
            GeneID:4089 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:4089 -> Molecular function: GO:0005518 [collagen binding] evidence: IEA
            GeneID:4089 -> Molecular function: GO:0030616 [transforming growth factor beta receptor, common-partner cytoplasmic mediator activity] evidence: IDA
            GeneID:4089 -> Molecular function: GO:0042802 [identical protein binding] evidence: IPI
            GeneID:4089 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IPI
            GeneID:4089 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IDA
            GeneID:4089 -> Molecular function: GO:0044212 [transcription regulatory region DNA binding] evidence: IDA
            GeneID:4089 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
            GeneID:4089 -> Molecular function: GO:0070411 [I-SMAD binding] evidence: IPI
            GeneID:4089 -> Molecular function: GO:0070412 [R-SMAD binding] evidence: IPI
            GeneID:4089 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: TAS
            GeneID:4089 -> Biological process: GO:0001658 [branching involved in ureteric bud morphogenesis] evidence: IEA
            GeneID:4089 -> Biological process: GO:0001666 [response to hypoxia] evidence: IMP
            GeneID:4089 -> Biological process: GO:0001701 [in utero embryonic development] evidence: IEA
            GeneID:4089 -> Biological process: GO:0001702 [gastrulation with mouth forming second] evidence: IEA
            GeneID:4089 -> Biological process: GO:0003190 [atrioventricular valve formation] evidence: IEA
            GeneID:4089 -> Biological process: GO:0003198 [epithelial to mesenchymal transition involved in endocardial cushion formation] evidence: IEA
            GeneID:4089 -> Biological process: GO:0003251 [positive regulation of cell proliferation involved in heart valve morphogenesis] evidence: IEA
            GeneID:4089 -> Biological process: GO:0003279 [cardiac septum development] evidence: IEA
            GeneID:4089 -> Biological process: GO:0003360 [brainstem development] evidence: IEA
            GeneID:4089 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: TAS
            GeneID:4089 -> Biological process: GO:0006367 [transcription initiation from RNA polymerase II promoter] evidence: TAS
            GeneID:4089 -> Biological process: GO:0007179 [transforming growth factor beta receptor signaling pathway] evidence: IDA
            GeneID:4089 -> Biological process: GO:0007179 [transforming growth factor beta receptor signaling pathway] evidence: TAS
            GeneID:4089 -> Biological process: GO:0007183 [SMAD protein complex assembly] evidence: IDA
            GeneID:4089 -> Biological process: GO:0007411 [axon guidance] evidence: IEA
            GeneID:4089 -> Biological process: GO:0007492 [endoderm development] evidence: IEA
            GeneID:4089 -> Biological process: GO:0007498 [mesoderm development] evidence: IEA
            GeneID:4089 -> Biological process: GO:0008283 [cell proliferation] evidence: IEA
            GeneID:4089 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: IEA
            GeneID:4089 -> Biological process: GO:0010467 [gene expression] evidence: TAS
            GeneID:4089 -> Biological process: GO:0010718 [positive regulation of epithelial to mesenchymal transition] evidence: ISS
            GeneID:4089 -> Biological process: GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation] evidence: ISS
            GeneID:4089 -> Biological process: GO:0014033 [neural crest cell differentiation] evidence: IEA
            GeneID:4089 -> Biological process: GO:0017015 [regulation of transforming growth factor beta receptor signaling pathway] evidence: IMP
            GeneID:4089 -> Biological process: GO:0030308 [negative regulation of cell growth] evidence: IDA
            GeneID:4089 -> Biological process: GO:0030509 [BMP signaling pathway] evidence: IDA
            GeneID:4089 -> Biological process: GO:0030509 [BMP signaling pathway] evidence: TAS
            GeneID:4089 -> Biological process: GO:0030511 [positive regulation of transforming growth factor beta receptor signaling pathway] evidence: IDA
            GeneID:4089 -> Biological process: GO:0030513 [positive regulation of BMP signaling pathway] evidence: IMP
            GeneID:4089 -> Biological process: GO:0032525 [somite rostral/caudal axis specification] evidence: IEA
            GeneID:4089 -> Biological process: GO:0032909 [regulation of transforming growth factor beta2 production] evidence: IMP
            GeneID:4089 -> Biological process: GO:0036302 [atrioventricular canal development] evidence: IEA
            GeneID:4089 -> Biological process: GO:0042118 [endothelial cell activation] evidence: IEA
            GeneID:4089 -> Biological process: GO:0042177 [negative regulation of protein catabolic process] evidence: IMP
            GeneID:4089 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IDA
            GeneID:4089 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IDA
            GeneID:4089 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IDA
            GeneID:4089 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: TAS
            GeneID:4089 -> Biological process: GO:0048589 [developmental growth] evidence: IEA
            GeneID:4089 -> Biological process: GO:0048663 [neuron fate commitment] evidence: IEA
            GeneID:4089 -> Biological process: GO:0048733 [sebaceous gland development] evidence: IEA
            GeneID:4089 -> Biological process: GO:0048859 [formation of anatomical boundary] evidence: IEA
            GeneID:4089 -> Biological process: GO:0051098 [regulation of binding] evidence: IEA
            GeneID:4089 -> Biological process: GO:0051797 [regulation of hair follicle development] evidence: IEA
            GeneID:4089 -> Biological process: GO:0060021 [palate development] evidence: ISS
            GeneID:4089 -> Biological process: GO:0060391 [positive regulation of SMAD protein import into nucleus] evidence: ISS
            GeneID:4089 -> Biological process: GO:0060395 [SMAD protein signal transduction] evidence: IDA
            GeneID:4089 -> Biological process: GO:0060548 [negative regulation of cell death] evidence: IEA
            GeneID:4089 -> Biological process: GO:0060956 [endocardial cell differentiation] evidence: IEA
            GeneID:4089 -> Biological process: GO:0071559 [response to transforming growth factor beta stimulus] evidence: IDA
            GeneID:4089 -> Biological process: GO:0072133 [metanephric mesenchyme morphogenesis] evidence: IEA
            GeneID:4089 -> Biological process: GO:0072134 [nephrogenic mesenchyme morphogenesis] evidence: IEA
            GeneID:4089 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:4089 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
            GeneID:4089 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IDA
            GeneID:4089 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IPI
            GeneID:4089 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
            GeneID:4089 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
            GeneID:4089 -> Cellular component: GO:0005813 [centrosome] evidence: IDA
            GeneID:4089 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
            GeneID:4089 -> Cellular component: GO:0032444 [activin responsive factor complex] evidence: IDA
            GeneID:4089 -> Cellular component: GO:0071141 [SMAD protein complex] evidence: IDA

by @meso_cacase at DBCLS
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