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2024-04-20 22:05:23, 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 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
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