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2019-03-26 15:29:52, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_033641               6721 bp    mRNA    linear   PRI 11-MAY-2013
DEFINITION  Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript
            variant B, mRNA.
ACCESSION   NM_033641
VERSION     NM_033641.2  GI:148536826
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 6721)
  AUTHORS   Uliana,V., Marcocci,E., Mucciolo,M., Meloni,I., Izzi,C., Manno,C.,
            Bruttini,M., Mari,F., Scolari,F., Renieri,A. and Salviati,L.
  TITLE     Alport syndrome and leiomyomatosis: the first deletion extending
            beyond COL4A6 intron 2
  JOURNAL   Pediatr. Nephrol. 26 (5), 717-724 (2011)
   PUBMED   21380622
  REMARK    GeneRIF: In this paper we improve the definition of the
            COL4A5/COL4A6 deletions in three Alport syndrome with diffuse
            leiomyomatosis.
REFERENCE   2  (bases 1 to 6721)
  AUTHORS   Oohashi,T., Naito,I., Ueki,Y., Yamatsuji,T., Permpoon,R.,
            Tanaka,N., Naomoto,Y. and Ninomiya,Y.
  TITLE     Clonal overgrowth of esophageal smooth muscle cells in diffuse
            leiomyomatosis-Alport syndrome caused by partial deletion in COL4A5
            and COL4A6 genes
  JOURNAL   Matrix Biol. 30 (1), 3-8 (2011)
   PUBMED   20951201
  REMARK    GeneRIF: expression of collagen type IV alpha6 chain in the smooth
            muscle BM of the gastrointestinal tract is restricted to the
            esophagus in humans
REFERENCE   3  (bases 1 to 6721)
  AUTHORS   Romero,R., Friel,L.A., Velez Edwards,D.R., Kusanovic,J.P.,
            Hassan,S.S., Mazaki-Tovi,S., Vaisbuch,E., Kim,C.J., Erez,O.,
            Chaiworapongsa,T., Pearce,B.D., Bartlett,J., Salisbury,B.A.,
            Anant,M.K., Vovis,G.F., Lee,M.S., Gomez,R., Behnke,E., Oyarzun,E.,
            Tromp,G., Williams,S.M. and Menon,R.
  TITLE     A genetic association study of maternal and fetal candidate genes
            that predispose to preterm prelabor rupture of membranes (PROM)
  JOURNAL   Am. J. Obstet. Gynecol. 203 (4), 361 (2010)
   PUBMED   20673868
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 6721)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   5  (bases 1 to 6721)
  AUTHORS   Romero,R., Velez Edwards,D.R., Kusanovic,J.P., Hassan,S.S.,
            Mazaki-Tovi,S., Vaisbuch,E., Kim,C.J., Chaiworapongsa,T.,
            Pearce,B.D., Friel,L.A., Bartlett,J., Anant,M.K., Salisbury,B.A.,
            Vovis,G.F., Lee,M.S., Gomez,R., Behnke,E., Oyarzun,E., Tromp,G.,
            Williams,S.M. and Menon,R.
  TITLE     Identification of fetal and maternal single nucleotide
            polymorphisms in candidate genes that predispose to spontaneous
            preterm labor with intact membranes
  JOURNAL   Am. J. Obstet. Gynecol. 202 (5), 431 (2010)
   PUBMED   20452482
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 6721)
  AUTHORS   Ghebrehiwet,B., Peerschke,E.I., Hong,Y., Munoz,P. and Gorevic,P.D.
  TITLE     Short amino acid sequences derived from C1q receptor (C1q-R) show
            homology with the alpha chains of fibronectin and vitronectin
            receptors and collagen type IV
  JOURNAL   J. Leukoc. Biol. 51 (6), 546-556 (1992)
   PUBMED   1377218
REFERENCE   7  (bases 1 to 6721)
  AUTHORS   Gupta,S., Batchu,R.B. and Datta,K.
  TITLE     Purification, partial characterization of rat kidney hyaluronic
            acid binding protein and its localization on the cell surface
  JOURNAL   Eur. J. Cell Biol. 56 (1), 58-67 (1991)
   PUBMED   1724753
REFERENCE   8  (bases 1 to 6721)
  AUTHORS   Hernandez,M.R., Igoe,F. and Neufeld,A.H.
  TITLE     Extracellular matrix of the human optic nerve head
  JOURNAL   Am. J. Ophthalmol. 102 (2), 139-148 (1986)
   PUBMED   2426947
REFERENCE   9  (bases 1 to 6721)
  AUTHORS   Glant,T.T., Hadhazy,C., Mikecz,K. and Sipos,A.
  TITLE     Appearance and persistence of fibronectin in cartilage. Specific
            interaction of fibronectin with collagen type II
  JOURNAL   Histochemistry 82 (2), 149-158 (1985)
   PUBMED   3997552
REFERENCE   10 (bases 1 to 6721)
  AUTHORS   Matsubara,T., Trueb,B., Fehr,K., Ruttner,J.R. and Odermatt,B.F.
  TITLE     The localization and secretion of type IV collagen in synovial
            capillaries by immunohistochemistry using a monoclonal antibody
            against human type IV collagen
  JOURNAL   Exp. Cell Biol. 52 (3), 159-169 (1984)
   PUBMED   6386565
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN313347.1, D21337.1,
            AL136080.6, U04845.1, BF726518.1, BQ331638.1 and CB050016.1.
            On Jun 1, 2007 this sequence version replaced gi:16357502.
            
            Summary: This gene encodes one of the six subunits of type IV
            collagen, the major structural component of basement membranes.
            Like the other members of the type IV collagen gene family, this
            gene is organized in a head-to-head conformation with another type
            IV collagen gene, alpha 5 type IV collagen, so that the gene pair
            shares a common promoter. Deletions in the alpha 5 gene that extend
            into the alpha 6 gene result in diffuse leiomyomatosis accompanying
            the X-linked Alport syndrome caused by the deletion in the alpha 5
            gene. Two splice variants have been identified for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (B) utilizes alternative exon 1B
            resulting in a different 5'UTR and signal peptide.
            
            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##
            RNAseq introns :: single sample supports all introns ERS025088
                              [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-732               CN313347.1         6-737
            733-2977            D21337.1           735-2979
            2978-3040           AL136080.6         5360-5422           c
            3041-3309           D21337.1           3043-3311
            3310-3310           AL136080.6         4184-4184           c
            3311-4485           U04845.1           3191-4365
            4486-5650           D21337.1           4452-5616
            5651-6021           BF726518.1         97-467
            6022-6194           BQ331638.1         146-318             c
            6195-6721           CB050016.1         6-532               c
FEATURES             Location/Qualifiers
     source          1..6721
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22"
     gene            1..6721
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /note="collagen, type IV, alpha 6"
                     /db_xref="GeneID:1288"
                     /db_xref="HGNC:2208"
                     /db_xref="HPRD:02364"
                     /db_xref="MIM:303631"
     exon            1..243
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    170..172
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /note="upstream in-frame stop codon"
     CDS             233..5305
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /note="isoform B precursor is encoded by transcript
                     variant B; collagen of basement membrane, alpha-6;
                     collagen IV, alpha-6 polypeptide; collagen alpha-6(IV)
                     chain; dJ889N15.4 (Collagen Alpha 6(IV))"
                     /codon_start=1
                     /product="collagen alpha-6(IV) chain isoform B precursor"
                     /protein_id="NP_378667.1"
                     /db_xref="GI:16357503"
                     /db_xref="CCDS:CCDS14542.1"
                     /db_xref="GeneID:1288"
                     /db_xref="HGNC:2208"
                     /db_xref="HPRD:02364"
                     /db_xref="MIM:303631"
                     /translation="
MHPGLWLLLVTLCLTEELAAAGEKSYGKPCGGQDCSGSCQCFPEKGARGRPGPIGIQGPTGPQGFTGSTGLSGLKGERGFPGLLGPYGPKGDKGPMGVPGFLGINGIPGHPGQPGPRGPPGLDGCNGTQGAVGFPGPDGYPGLLGPPGLPGQKGSKGDPVLAPGSFKGMKGDPGLPGLDGITGPQGAPGFPGAVGPAGPPGLQGPPGPPGPLGPDGNMGLGFQGEKGVKGDVGLPGPAGPPPSTGELEFMGFPKGKKGSKGEPGPKGFPGISGPPGFPGLGTTGEKGEKGEKGIPGLPGPRGPMGSEGVQGPPGQQGKKGTLGFPGLNGFQGIEGQKGDIGLPGPDVFIDIDGAVISGNPGDPGVPGLPGLKGDEGIQGLRGPSGVPGLPALSGVPGALGPQGFPGLKGDQGNPGRTTIGAAGLPGRDGLPGPPGPPGPPSPEFETETLHNKESGFPGLRGEQGPKGNLGLKGIKGDSGFCACDGGVPNTGPPGEPGPPGPWGLIGLPGLKGARGDRGSGGAQGPAGAPGLVGPLGPSGPKGKKGEPILSTIQGMPGDRGDSGSQGFRGVIGEPGKDGVPGLPGLPGLPGDGGQGFPGEKGLPGLPGEKGHPGPPGLPGNGLPGLPGPRGLPGDKGKDGLPGQQGLPGSKGITLPCIIPGSYGPSGFPGTPGFPGPKGSRGLPGTPGQPGSSGSKGEPGSPGLVHLPELPGFPGPRGEKGLPGFPGLPGKDGLPGMIGSPGLPGSKGATGDIFGAENGAPGEQGLQGLTGHKGFLGDSGLPGLKGVHGKPGLLGPKGERGSPGTPGQVGQPGTPGSSGPYGIKGKSGLPGAPGFPGISGHPGKKGTRGKKGPPGSIVKKGLPGLKGLPGNPGLVGLKGSPGSPGVAGLPALSGPKGEKGSVGFVGFPGIPGLPGIPGTRGLKGIPGSTGKMGPSGRAGTPGEKGDRGNPGPVGIPSPRRPMSNLWLKGDKGSQGSAGSNGFPGPRGDKGEAGRPGPPGLPGAPGLPGIIKGVSGKPGPPGFMGIRGLPGLKGSSGITGFPGMPGESGSQGIRGSPGLPGASGLPGLKGDNGQTVEISGSPGPKGQPGESGFKGTKGRDGLIGNIGFPGNKGEDGKVGVSGDVGLPGAPGFPGVAGMRGEPGLPGSSGHQGAIGPLGSPGLIGPKGFPGFPGLHGLNGLPGTKGTHGTPGPSITGVPGPAGLPGPKGEKGYPGIGIGAPGKPGLRGQKGDRGFPGLQGPAGLPGAPGISLPSLIAGQPGDPGRPGLDGERGRPGPAGPPGPPGPSSNQGDTGDPGFPGIPGPKGPKGDQGIPGFSGLPGELGLKGMRGEPGFMGTPGKVGPPGDPGFPGMKGKAGPRGSSGLQGDPGQTPTAEAVQVPPGPLGLPGIDGIPGLTGDPGAQGPVGLQGSKGLPGIPGKDGPSGLPGPPGALGDPGLPGLQGPPGFEGAPGQQGPFGMPGMPGQSMRVGYTLVKHSQSEQVPPCPIGMSQLWVGYSLLFVEGQEKAHNQDLGFAGSCLPRFSTMPFIYCNINEVCHYARRNDKSYWLSTTAPIPMMPVSQTQIPQYISRCSVCEAPSQAIAVHSQDITIPQCPLGWRSLWIGYSFLMHTAAGAEGGGQSLVSPGSCLEDFRATPFIECSGARGTCHYFANKYSFWLTTVEERQQFGELPVSETLKAGQLHTRVSRCQVCMKSL
"
     sig_peptide     233..295
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     296..5302
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /product="collagen alpha-6(IV) chain isoform B"
     misc_feature    4628..4951
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /note="C-terminal tandem repeated domain in type 4
                     procollagen; Region: C4; pfam01413"
                     /db_xref="CDD:144854"
     misc_feature    4952..5296
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /note="C-terminal tandem repeated domain in type 4
                     procollagen; Region: C4; pfam01413"
                     /db_xref="CDD:144854"
     exon            244..295
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            296..376
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            377..511
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            512..556
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            557..673
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            674..742
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            743..778
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            779..841
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            842..877
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            878..919
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            920..1012
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            1013..1066
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     variation       1043
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1126491"
     variation       1045
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1126492"
     variation       1046
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1126493"
     exon            1067..1135
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            1136..1180
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            1181..1234
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            1235..1304
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            1305..1412
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            1413..1553
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            1554..1658
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     variation       1611
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:34740537"
     exon            1659..1819
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            1820..1999
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            2000..2183
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            2184..2255
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            2256..2363
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            2364..2585
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            2586..2747
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            2748..2918
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            2919..3062
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     variation       3007
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1042066"
     exon            3063..3188
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            3189..3370
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            3371..3434
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            3435..3509
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            3510..3617
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     variation       3559
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1042067"
     variation       3605
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35179844"
     exon            3618..3725
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     variation       3713
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34466065"
     exon            3726..3797
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            3798..3923
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            3924..4040
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            4041..4202
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     variation       4087
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34132805"
     exon            4203..4301
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            4302..4448
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     variation       4314
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35363062"
     variation       4322
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1126494"
     variation       4381
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:35202133"
     exon            4449..4565
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     variation       4486
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1042070"
     exon            4566..4757
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            4758..5044
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            5045..6698
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     STS             5416..5493
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /standard_name="DXS7789"
                     /db_xref="UniSTS:99556"
     STS             5467..5594
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /standard_name="WI-18796"
                     /db_xref="UniSTS:33103"
     STS             5513..5853
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /standard_name="DXS7494"
                     /db_xref="UniSTS:76027"
     variation       6022
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1042071"
     polyA_signal    6670..6675
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
     polyA_signal    6675..6680
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
     polyA_site      6698
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
ORIGIN      
ggaactatctcctgagtgctgcaagttgtaacgggcaccgctgagcctgtttccctttggagcacttcttatctagaagcagtgtttagtttcttccaaactgggccacttcgtccacctactctgttctgagtaaggaaacagcctccaagcatcagcagagcccagatgagcacgggccgcggagccgcttagcagtctcccgggacccagctccggaggagccgcaagcatgcaccctgggttgtggctgctcctggttacgttgtgcctgaccgaggaactggcagcagcgggagagaagtcttatggaaagccatgtgggggccaggactgcagtgggagctgtcagtgttttcctgagaaaggagcgagaggacgacctggaccaattggaattcaaggcccaacaggtcctcaaggattcactggctctactggtttatcgggattgaaaggagaaaggggtttcccaggccttctgggaccttatggaccaaaaggagataagggtcccatgggagttcctggctttcttggcatcaatgggattccgggccaccctggacaaccaggccccagaggcccacctggtctggatggctgtaatggaactcaaggagctgttggatttccaggccctgatggctatcctgggcttctcggaccacccgggcttcctggtcagaaaggatcaaaaggtgaccctgtccttgctccaggtagtttcaaaggaatgaagggggatcctgggctgcctggactggatggaatcactggcccacaaggagcacccggatttcctggagctgtaggacctgcaggaccaccaggattacaaggtcctccagggcctcctggtcctcttggtcctgatgggaatatggggctaggttttcaaggagagaaaggagtcaagggggatgttggcctccctggcccagcaggacctccaccatctactggagagctggaattcatgggattccccaaagggaagaaaggatccaagggtgaaccagggcctaagggttttccaggcataagtggccctccaggcttcccgggccttggaactactggagaaaagggagaaaagggagaaaagggaatccctggtttgccaggacctaggggtcccatgggttcagaaggagtccaaggccctccagggcaacagggcaagaaagggaccctgggatttcctgggcttaatggattccaaggaattgagggtcaaaagggtgacattggcctgccaggcccagatgttttcatcgatatagatggtgctgtgatctcaggtaatcctggagatcctggtgtacctggcctcccaggccttaaaggagatgaaggcatccaaggcctacgtggcccttctggtgtccctggattgccagcattatcaggtgtcccaggagccctagggcctcagggatttccagggctgaagggggaccaaggaaacccaggccgtaccacaattggagcagctggcctccctggcagagatggtttgccaggcccaccaggtccaccaggcccacctagtccagaatttgagactgaaactctacacaacaaagagtcagggttccctggtctccgaggagaacaaggtccaaaaggaaacctaggcctcaaaggaataaaaggagactcaggtttctgtgcttgtgacggtggtgttcccaacactggaccacccggggaaccaggcccacctggtccatggggtctcataggccttccaggccttaaaggagccagaggagatcgaggctctgggggtgcacagggcccagcaggggctccaggcttagttgggcctctgggtccttcaggacccaaaggaaagaagggggaaccaattctcagtacaatccaaggaatgccaggagatcggggtgattctggctcccagggcttccgtggtgtaataggagaaccaggcaaggacggagtaccaggtttaccaggtctgccaggccttccgggtgatggtggacagggcttcccaggtgaaaaggggttacctggacttcctggtgaaaaaggccatcctggtccacctggcctcccaggaaatgggttaccaggacttcctggaccccgtgggcttcctggagataaaggcaaggatggattaccgggacaacaaggccttcccggatctaagggaatcaccctgccctgtattattcctgggtcatacggtccatcaggatttccaggcactcccggattcccaggccctaaagggtctcgaggcctccctgggaccccaggccagcctgggtcaagtggaagtaaaggagagccagggagtccaggattggttcatcttcctgaattaccaggatttcctggacctcgtggggagaagggcttgcctgggtttcctgggctccctggaaaagatggcttgcctgggatgattggcagtccaggcttacctggttccaagggagccactggtgacatctttggtgctgaaaatggtgctccgggggaacaaggcctacaaggattaacagggcacaaaggatttcttggagactctggccttccaggactcaagggtgtgcacgggaagcctggcttactaggccccaaaggtgagcggggcagccctgggacaccaggacaggtgggacagccaggcaccccaggatctagtggtccatatggcatcaagggcaaatctgggctcccaggagcaccaggcttcccaggcatctcaggacatcctggaaagaaaggaacaagaggcaagaaaggtcctcctggatcaattgtaaagaaagggctgccagggctaaaaggccttcctggaaatccaggcctagtaggactgaaaggaagcccaggctctccaggggtcgctgggttgccagccctctctggacccaagggagagaaggggtctgttggattcgtaggttttccaggaataccaggtctgcctggtattcctggaacaagaggattaaaaggaattccaggatcaactggaaaaatgggaccatctggacgtgctggtactcctggtgaaaagggagacagaggcaatccggggccagtcggaatacctagtccaagacgtccaatgtcaaacctttggctcaaaggagacaaaggctctcaaggctcagccggatccaatggatttcctgggccaagaggtgacaaaggagaggctggtcgacctggaccaccaggcctacctggagctcctggcctcccaggcattatcaaaggagttagtggaaagccagggccccctggcttcatgggaatccggggcttacctggcctgaaggggtcctctgggatcacaggtttcccaggaatgccaggagaaagtggttcacaaggtatcagagggtcgcctggactcccaggagcatctggtctcccaggcctgaaaggagacaacggccagacagttgaaatttccggtagcccaggacccaagggacagcctggcgaatctggttttaaaggcacaaaaggaagagatggactaataggcaatataggcttccctggaaacaaaggtgaagatggaaaagttggtgtttctggagatgttggccttcctggagctccaggatttccaggagttgccggcatgagaggagaaccaggacttccaggttcttctggtcaccaaggggcaattgggcctctaggatcccccggattaataggacccaaaggcttccctggatttcctggtttacatggactgaatgggcttccgggcaccaagggtacccatggcactccaggacctagtatcaccggtgtgcctgggcctgctggtctccctggacccaaaggagaaaaaggatatccaggaattggcatcggagctccagggaagccgggcctgagagggcaaaaaggtgatcgaggtttcccaggtctccagggccctgctggtctccccggtgccccaggcatctccttgccctcactcatagcaggacagcctggtgaccccgggcgaccaggcctagatggagaacgaggccgcccaggccccgctggacccccaggtccccctgggccatcctcgaatcaaggcgacaccggagaccctggcttccctggaattcctggacctaaagggcctaagggagaccaaggaattccaggtttttctggcctccctggagagctaggactgaaaggcatgagaggtgagcctggcttcatggggactccaggcaaggttgggccacctggagacccaggatttcccggaatgaaggggaaggcagggccaagaggctcttctggcctccaaggtgatcctggacaaacaccaactgcagaagctgtccaggttcctcctggacccttgggtctaccagggatcgatggcatccctggcctcactggggaccctggggctcaaggccctgtaggcctacaaggctccaaaggtttacctggcatccccggtaaagatggccccagtgggctcccaggcccacctggggctcttggtgatcctggtctgcctggactgcaaggccctccaggatttgaaggagctccagggcagcaaggccccttcgggatgcctggaatgcctggccagagcatgagagtgggctacacgttggtaaagcacagccagtcggaacaggtgcccccgtgtcccatcgggatgagccagctgtgggtggggtacagcttactgtttgtggaggggcaagagaaagcccacaaccaggacctgggctttgctggctcctgtctgccccgcttcagcaccatgcccttcatctactgcaacatcaacgaggtgtgccactatgccaggcgcaatgataaatcttactggctctccactaccgcccctatccccatgatgcccgtcagccagacccagattccccagtacatcagccgctgctctgtgtgtgaggcaccctcgcaagccattgctgtgcacagccaggacatcaccatcccgcagtgccccctgggctggcgcagcctctggattgggtactctttcctcatgcacactgccgctggtgccgagggtggaggccagtccctggtctcacctggctcctgcctagaggactttcgggccactcctttcatcgaatgcagtggtgcccgaggcacctgccactactttgcaaacaagtacagtttctggttgaccacagtggaggagaggcagcagtttggggagttgcctgtgtctgaaacgctgaaagctgggcagctccacactcgagtcagtcgctgccaggtgtgtatgaaaagcctgtagggtggcacctgccactctgccccttgccctcccctgcccctcacaacagtcacctcacaaacctgaatggtctgaagaaggaaggcctgagcccctttgcctgtcaagttgtacattggagtctcatttgggctagactaccggacactcgtcaccccagccctcgggtccatagagatgagcccaccctgctgagatctgctgtcctgtttctgtcaagctggtgctactgtttgatttggatgattgtgtgactattcatggctacctcagaaagatttgatgggccacaactgtcttagactgctagctttctccttaccgtcttgatcggaaagctcttcctaatcgctaatcagtcatttcttcatgtacagaggtcagcacacattatttggcttaaaccagaacccagtgtttccacacttaaattctctaaccgaatattcatggatggctcaagtctgcacagagcaagtcctcactcttcaaggaggcccactgtgtctaggcaggcaagagaattgaaatgaggtgccacccagtagcccagagtgagctttagctctctctagaatgagcaagactgggccccacatggcttagagaggcttgaaggccagcagctgggttgggggtggtggtcattaatggcatatggtcctagacaaaccatctcctccttgccggctccccctccagccagagacagaggatgtggcctggttcaaagtaaagcagaggatgcaacaaatgtggccaagcctatcaaaggaaatgagaatgacagccttttttcctgggccagaagtagaggggtgggtgcgtaaggatgtgtgagttttgcttttgactccaggaacaaaaaggtaaatcccacatcccagtttctcagaagtccctgtttattccaaatgccatccagatgtgtgcaatgtggcaaactgaagctgcacagtgttggtttccttgtattctgaggatgttaaagactttgttaaatggttatccaattgctctttcacaggtagcctattaaactattttaatatgtttttttaaacctcataaaaatctagcacactcttctcttgagcagttagcagacctaaagcaagcctgaattggctatgcagtacattgtattctgtttgggggaatttgttttagccattttctttaattaccagttttccagaacactcttagctatgttgacatgaggcagttccttccaggtgattctgtttccttaagtattatataaactgtgccaatacagacaaagcataatcaatataatctgaattattgttatctttacctcctgagtaataagcatggtgtcagttttgtacatagcaaataaaataaatgaaatctgaacatgtgaaaaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:1288 -> Molecular function: GO:0005201 [extracellular matrix structural constituent] evidence: NAS
            GeneID:1288 -> Biological process: GO:0007155 [cell adhesion] evidence: IEA
            GeneID:1288 -> Biological process: GO:0022617 [extracellular matrix disassembly] evidence: TAS
            GeneID:1288 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: NAS
            GeneID:1288 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: TAS
            GeneID:1288 -> Biological process: GO:0030574 [collagen catabolic process] evidence: TAS
            GeneID:1288 -> Biological process: GO:0071230 [cellular response to amino acid stimulus] evidence: IEA
            GeneID:1288 -> Cellular component: GO:0005576 [extracellular region] evidence: TAS
            GeneID:1288 -> Cellular component: GO:0005587 [collagen type IV] evidence: NAS
            GeneID:1288 -> Cellular component: GO:0005788 [endoplasmic reticulum lumen] evidence: TAS

by @meso_cacase at DBCLS
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