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2019-03-26 15:25:09, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001847               6595 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript
            variant A, mRNA.
ACCESSION   NM_001847
VERSION     NM_001847.2  GI:148536822
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 6595)
  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 6595)
  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 6595)
  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 6595)
  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 6595)
  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 6595)
  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 6595)
  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 6595)
  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 6595)
  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 6595)
  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 BC005305.1, D21337.1,
            AL136080.6, U04845.1, BF726518.1, BQ331638.1 and CB050016.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 1, 2007 this sequence version replaced gi:16357500.
            
            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 (A) utilizes alternative exon 1A
            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##
            Transcript exon combination :: U04845.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025082 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-250               BC005305.1         24-273
            251-2851            D21337.1           379-2979
            2852-2914           AL136080.6         5360-5422           c
            2915-3183           D21337.1           3043-3311
            3184-3184           AL136080.6         4184-4184           c
            3185-4359           U04845.1           3191-4365
            4360-5524           D21337.1           4452-5616
            5525-5895           BF726518.1         97-467
            5896-6068           BQ331638.1         146-318             c
            6069-6595           CB050016.1         6-532               c
FEATURES             Location/Qualifiers
     source          1..6595
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq22"
     gene            1..6595
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /note="collagen, type IV, alpha 6"
                     /db_xref="GeneID:1288"
                     /db_xref="HGNC:2208"
                     /db_xref="MIM:303631"
     exon            1..117
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     STS             13..91
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /standard_name="COL4A6"
                     /db_xref="UniSTS:99485"
     misc_feature    92..94
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /note="upstream in-frame stop codon"
     CDS             104..5179
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /note="isoform A precursor is encoded by transcript
                     variant A; 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 A precursor"
                     /protein_id="NP_001838.2"
                     /db_xref="GI:148536823"
                     /db_xref="CCDS:CCDS14541.1"
                     /db_xref="GeneID:1288"
                     /db_xref="HGNC:2208"
                     /db_xref="MIM:303631"
                     /translation="
MLINKLWLLLVTLCLTEELAAAGEKSYGKPCGGQDCSGSCQCFPEKGARGRPGPIGIQGPTGPQGFTGSTGLSGLKGERGFPGLLGPYGPKGDKGPMGVPGFLGINGIPGHPGQPGPRGPPGLDGCNGTQGAVGFPGPDGYPGLLGPPGLPGQKGSKGDPVLAPGSFKGMKGDPGLPGLDGITGPQGAPGFPGAVGPAGPPGLQGPPGPPGPLGPDGNMGLGFQGEKGVKGDVGLPGPAGPPPSTGELEFMGFPKGKKGSKGEPGPKGFPGISGPPGFPGLGTTGEKGEKGEKGIPGLPGPRGPMGSEGVQGPPGQQGKKGTLGFPGLNGFQGIEGQKGDIGLPGPDVFIDIDGAVISGNPGDPGVPGLPGLKGDEGIQGLRGPSGVPGLPALSGVPGALGPQGFPGLKGDQGNPGRTTIGAAGLPGRDGLPGPPGPPGPPSPEFETETLHNKESGFPGLRGEQGPKGNLGLKGIKGDSGFCACDGGVPNTGPPGEPGPPGPWGLIGLPGLKGARGDRGSGGAQGPAGAPGLVGPLGPSGPKGKKGEPILSTIQGMPGDRGDSGSQGFRGVIGEPGKDGVPGLPGLPGLPGDGGQGFPGEKGLPGLPGEKGHPGPPGLPGNGLPGLPGPRGLPGDKGKDGLPGQQGLPGSKGITLPCIIPGSYGPSGFPGTPGFPGPKGSRGLPGTPGQPGSSGSKGEPGSPGLVHLPELPGFPGPRGEKGLPGFPGLPGKDGLPGMIGSPGLPGSKGATGDIFGAENGAPGEQGLQGLTGHKGFLGDSGLPGLKGVHGKPGLLGPKGERGSPGTPGQVGQPGTPGSSGPYGIKGKSGLPGAPGFPGISGHPGKKGTRGKKGPPGSIVKKGLPGLKGLPGNPGLVGLKGSPGSPGVAGLPALSGPKGEKGSVGFVGFPGIPGLPGIPGTRGLKGIPGSTGKMGPSGRAGTPGEKGDRGNPGPVGIPSPRRPMSNLWLKGDKGSQGSAGSNGFPGPRGDKGEAGRPGPPGLPGAPGLPGIIKGVSGKPGPPGFMGIRGLPGLKGSSGITGFPGMPGESGSQGIRGSPGLPGASGLPGLKGDNGQTVEISGSPGPKGQPGESGFKGTKGRDGLIGNIGFPGNKGEDGKVGVSGDVGLPGAPGFPGVAGMRGEPGLPGSSGHQGAIGPLGSPGLIGPKGFPGFPGLHGLNGLPGTKGTHGTPGPSITGVPGPAGLPGPKGEKGYPGIGIGAPGKPGLRGQKGDRGFPGLQGPAGLPGAPGISLPSLIAGQPGDPGRPGLDGERGRPGPAGPPGPPGPSSNQGDTGDPGFPGIPGPKGPKGDQGIPGFSGLPGELGLKGMRGEPGFMGTPGKVGPPGDPGFPGMKGKAGPRGSSGLQGDPGQTPTAEAVQVPPGPLGLPGIDGIPGLTGDPGAQGPVGLQGSKGLPGIPGKDGPSGLPGPPGALGDPGLPGLQGPPGFEGAPGQQGPFGMPGMPGQSMRVGYTLVKHSQSEQVPPCPIGMSQLWVGYSLLFVEGQEKAHNQDLGFAGSCLPRFSTMPFIYCNINEVCHYARRNDKSYWLSTTAPIPMMPVSQTQIPQYISRCSVCEAPSQAIAVHSQDITIPQCPLGWRSLWIGYSFLMHTAAGAEGGGQSLVSPGSCLEDFRATPFIECSGARGTCHYFANKYSFWLTTVEERQQFGELPVSETLKAGQLHTRVSRCQVCMKSL
"
     sig_peptide     104..166
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
     mat_peptide     167..5176
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /product="collagen alpha-6(IV) chain isoform A"
     misc_feature    170..241
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14031.3);
                     Region: 7S domain"
     misc_feature    242..4492
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14031.3);
                     Region: Triple-helical region"
     misc_feature    1646..1654
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14031.3);
                     Region: Cell attachment site (Potential)"
     misc_feature    1781..1789
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14031.3);
                     Region: Cell attachment site (Potential)"
     misc_feature    3059..3067
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="non-experimental evidence, no additional
                     details recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14031.3);
                     Region: Cell attachment site (Potential)"
     misc_feature    4049..4204
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /note="Collagen triple helix repeat (20 copies); Region:
                     Collagen; pfam01391"
                     /db_xref="CDD:189968"
     misc_feature    4502..4825
                     /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    4826..5170
                     /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            118..169
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            170..250
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            251..385
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            386..430
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            431..547
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            548..616
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            617..652
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            653..715
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            716..751
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            752..793
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            794..886
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            887..940
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     variation       917
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1126491"
     variation       919
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1126492"
     variation       920
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:1126493"
     exon            941..1009
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            1010..1054
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            1055..1108
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            1109..1178
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            1179..1286
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            1287..1427
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            1428..1532
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     variation       1485
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:34740537"
     exon            1533..1693
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            1694..1873
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            1874..2057
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            2058..2129
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            2130..2237
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            2238..2459
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            2460..2621
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            2622..2792
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            2793..2936
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     variation       2881
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1042066"
     exon            2937..3062
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            3063..3244
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            3245..3308
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            3309..3383
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            3384..3491
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     variation       3433
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1042067"
     variation       3479
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35179844"
     exon            3492..3599
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     variation       3587
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34466065"
     exon            3600..3671
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            3672..3797
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            3798..3914
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            3915..4076
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     variation       3961
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34132805"
     exon            4077..4175
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            4176..4322
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     variation       4188
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:35363062"
     variation       4196
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1126494"
     variation       4255
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:35202133"
     exon            4323..4439
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     variation       4360
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1042070"
     exon            4440..4631
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            4632..4918
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     exon            4919..6572
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /inference="alignment:Splign:1.39.8"
     STS             5290..5367
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /standard_name="DXS7789"
                     /db_xref="UniSTS:99556"
     STS             5341..5468
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /standard_name="WI-18796"
                     /db_xref="UniSTS:33103"
     STS             5387..5727
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /standard_name="DXS7494"
                     /db_xref="UniSTS:76027"
     variation       5896
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1042071"
     polyA_signal    6544..6549
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
     polyA_signal    6549..6554
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
     polyA_site      6572
                     /gene="COL4A6"
                     /gene_synonym="CXDELq22.3; DELXq22.3"
ORIGIN      
gctccctgggctgctggtcttctttaccttccagctgctcacagaacagagagtttctacatacaagcagaagatgtgaaaatattgggaataaataaagtatatgcttataaacaagttgtggctgctcctggttacgttgtgcctgaccgaggaactggcagcagcgggagagaagtcttatggaaagccatgtgggggccaggactgcagtgggagctgtcagtgttttcctgagaaaggagcgagaggacgacctggaccaattggaattcaaggcccaacaggtcctcaaggattcactggctctactggtttatcgggattgaaaggagaaaggggtttcccaggccttctgggaccttatggaccaaaaggagataagggtcccatgggagttcctggctttcttggcatcaatgggattccgggccaccctggacaaccaggccccagaggcccacctggtctggatggctgtaatggaactcaaggagctgttggatttccaggccctgatggctatcctgggcttctcggaccacccgggcttcctggtcagaaaggatcaaaaggtgaccctgtccttgctccaggtagtttcaaaggaatgaagggggatcctgggctgcctggactggatggaatcactggcccacaaggagcacccggatttcctggagctgtaggacctgcaggaccaccaggattacaaggtcctccagggcctcctggtcctcttggtcctgatgggaatatggggctaggttttcaaggagagaaaggagtcaagggggatgttggcctccctggcccagcaggacctccaccatctactggagagctggaattcatgggattccccaaagggaagaaaggatccaagggtgaaccagggcctaagggttttccaggcataagtggccctccaggcttcccgggccttggaactactggagaaaagggagaaaagggagaaaagggaatccctggtttgccaggacctaggggtcccatgggttcagaaggagtccaaggccctccagggcaacagggcaagaaagggaccctgggatttcctgggcttaatggattccaaggaattgagggtcaaaagggtgacattggcctgccaggcccagatgttttcatcgatatagatggtgctgtgatctcaggtaatcctggagatcctggtgtacctggcctcccaggccttaaaggagatgaaggcatccaaggcctacgtggcccttctggtgtccctggattgccagcattatcaggtgtcccaggagccctagggcctcagggatttccagggctgaagggggaccaaggaaacccaggccgtaccacaattggagcagctggcctccctggcagagatggtttgccaggcccaccaggtccaccaggcccacctagtccagaatttgagactgaaactctacacaacaaagagtcagggttccctggtctccgaggagaacaaggtccaaaaggaaacctaggcctcaaaggaataaaaggagactcaggtttctgtgcttgtgacggtggtgttcccaacactggaccacccggggaaccaggcccacctggtccatggggtctcataggccttccaggccttaaaggagccagaggagatcgaggctctgggggtgcacagggcccagcaggggctccaggcttagttgggcctctgggtccttcaggacccaaaggaaagaagggggaaccaattctcagtacaatccaaggaatgccaggagatcggggtgattctggctcccagggcttccgtggtgtaataggagaaccaggcaaggacggagtaccaggtttaccaggtctgccaggccttccgggtgatggtggacagggcttcccaggtgaaaaggggttacctggacttcctggtgaaaaaggccatcctggtccacctggcctcccaggaaatgggttaccaggacttcctggaccccgtgggcttcctggagataaaggcaaggatggattaccgggacaacaaggccttcccggatctaagggaatcaccctgccctgtattattcctgggtcatacggtccatcaggatttccaggcactcccggattcccaggccctaaagggtctcgaggcctccctgggaccccaggccagcctgggtcaagtggaagtaaaggagagccagggagtccaggattggttcatcttcctgaattaccaggatttcctggacctcgtggggagaagggcttgcctgggtttcctgggctccctggaaaagatggcttgcctgggatgattggcagtccaggcttacctggttccaagggagccactggtgacatctttggtgctgaaaatggtgctccgggggaacaaggcctacaaggattaacagggcacaaaggatttcttggagactctggccttccaggactcaagggtgtgcacgggaagcctggcttactaggccccaaaggtgagcggggcagccctgggacaccaggacaggtgggacagccaggcaccccaggatctagtggtccatatggcatcaagggcaaatctgggctcccaggagcaccaggcttcccaggcatctcaggacatcctggaaagaaaggaacaagaggcaagaaaggtcctcctggatcaattgtaaagaaagggctgccagggctaaaaggccttcctggaaatccaggcctagtaggactgaaaggaagcccaggctctccaggggtcgctgggttgccagccctctctggacccaagggagagaaggggtctgttggattcgtaggttttccaggaataccaggtctgcctggtattcctggaacaagaggattaaaaggaattccaggatcaactggaaaaatgggaccatctggacgtgctggtactcctggtgaaaagggagacagaggcaatccggggccagtcggaatacctagtccaagacgtccaatgtcaaacctttggctcaaaggagacaaaggctctcaaggctcagccggatccaatggatttcctgggccaagaggtgacaaaggagaggctggtcgacctggaccaccaggcctacctggagctcctggcctcccaggcattatcaaaggagttagtggaaagccagggccccctggcttcatgggaatccggggcttacctggcctgaaggggtcctctgggatcacaggtttcccaggaatgccaggagaaagtggttcacaaggtatcagagggtcgcctggactcccaggagcatctggtctcccaggcctgaaaggagacaacggccagacagttgaaatttccggtagcccaggacccaagggacagcctggcgaatctggttttaaaggcacaaaaggaagagatggactaataggcaatataggcttccctggaaacaaaggtgaagatggaaaagttggtgtttctggagatgttggccttcctggagctccaggatttccaggagttgccggcatgagaggagaaccaggacttccaggttcttctggtcaccaaggggcaattgggcctctaggatcccccggattaataggacccaaaggcttccctggatttcctggtttacatggactgaatgggcttccgggcaccaagggtacccatggcactccaggacctagtatcaccggtgtgcctgggcctgctggtctccctggacccaaaggagaaaaaggatatccaggaattggcatcggagctccagggaagccgggcctgagagggcaaaaaggtgatcgaggtttcccaggtctccagggccctgctggtctccccggtgccccaggcatctccttgccctcactcatagcaggacagcctggtgaccccgggcgaccaggcctagatggagaacgaggccgcccaggccccgctggacccccaggtccccctgggccatcctcgaatcaaggcgacaccggagaccctggcttccctggaattcctggacctaaagggcctaagggagaccaaggaattccaggtttttctggcctccctggagagctaggactgaaaggcatgagaggtgagcctggcttcatggggactccaggcaaggttgggccacctggagacccaggatttcccggaatgaaggggaaggcagggccaagaggctcttctggcctccaaggtgatcctggacaaacaccaactgcagaagctgtccaggttcctcctggacccttgggtctaccagggatcgatggcatccctggcctcactggggaccctggggctcaaggccctgtaggcctacaaggctccaaaggtttacctggcatccccggtaaagatggccccagtgggctcccaggcccacctggggctcttggtgatcctggtctgcctggactgcaaggccctccaggatttgaaggagctccagggcagcaaggccccttcgggatgcctggaatgcctggccagagcatgagagtgggctacacgttggtaaagcacagccagtcggaacaggtgcccccgtgtcccatcgggatgagccagctgtgggtggggtacagcttactgtttgtggaggggcaagagaaagcccacaaccaggacctgggctttgctggctcctgtctgccccgcttcagcaccatgcccttcatctactgcaacatcaacgaggtgtgccactatgccaggcgcaatgataaatcttactggctctccactaccgcccctatccccatgatgcccgtcagccagacccagattccccagtacatcagccgctgctctgtgtgtgaggcaccctcgcaagccattgctgtgcacagccaggacatcaccatcccgcagtgccccctgggctggcgcagcctctggattgggtactctttcctcatgcacactgccgctggtgccgagggtggaggccagtccctggtctcacctggctcctgcctagaggactttcgggccactcctttcatcgaatgcagtggtgcccgaggcacctgccactactttgcaaacaagtacagtttctggttgaccacagtggaggagaggcagcagtttggggagttgcctgtgtctgaaacgctgaaagctgggcagctccacactcgagtcagtcgctgccaggtgtgtatgaaaagcctgtagggtggcacctgccactctgccccttgccctcccctgcccctcacaacagtcacctcacaaacctgaatggtctgaagaaggaaggcctgagcccctttgcctgtcaagttgtacattggagtctcatttgggctagactaccggacactcgtcaccccagccctcgggtccatagagatgagcccaccctgctgagatctgctgtcctgtttctgtcaagctggtgctactgtttgatttggatgattgtgtgactattcatggctacctcagaaagatttgatgggccacaactgtcttagactgctagctttctccttaccgtcttgatcggaaagctcttcctaatcgctaatcagtcatttcttcatgtacagaggtcagcacacattatttggcttaaaccagaacccagtgtttccacacttaaattctctaaccgaatattcatggatggctcaagtctgcacagagcaagtcctcactcttcaaggaggcccactgtgtctaggcaggcaagagaattgaaatgaggtgccacccagtagcccagagtgagctttagctctctctagaatgagcaagactgggccccacatggcttagagaggcttgaaggccagcagctgggttgggggtggtggtcattaatggcatatggtcctagacaaaccatctcctccttgccggctccccctccagccagagacagaggatgtggcctggttcaaagtaaagcagaggatgcaacaaatgtggccaagcctatcaaaggaaatgagaatgacagccttttttcctgggccagaagtagaggggtgggtgcgtaaggatgtgtgagttttgcttttgactccaggaacaaaaaggtaaatcccacatcccagtttctcagaagtccctgtttattccaaatgccatccagatgtgtgcaatgtggcaaactgaagctgcacagtgttggtttccttgtattctgaggatgttaaagactttgttaaatggttatccaattgctctttcacaggtagcctattaaactattttaatatgtttttttaaacctcataaaaatctagcacactcttctcttgagcagttagcagacctaaagcaagcctgaattggctatgcagtacattgtattctgtttgggggaatttgttttagccattttctttaattaccagttttccagaacactcttagctatgttgacatgaggcagttccttccaggtgattctgtttccttaagtattatataaactgtgccaatacagacaaagcataatcaatataatctgaattattgttatctttacctcctgagtaataagcatggtgtcagttttgtacatagcaaataaaataaatgaaatctgaacatgtgaaaaaaaaaaaaaaaaaaaaaaaa
//

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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