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2025-05-09 16:37:25, 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 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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