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COL6A5 (collagen, type VI, alpha 5)

Identity

Alias_namesCOL29A1
collagen, type XXIX, alpha 1
collagen, type VI, alpha 5
collagen type VI alpha 5
Alias_symbol (synonym)FLJ35880
VWA4
Other alias
HGNC (Hugo) COL6A5
LocusID (NCBI) 256076
Atlas_Id 61999
Location 3q22.1  [Link to chromosome band 3q22]
Location_base_pair Starts at 130064359 and ends at 130203690 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)COL6A5   26674
Cards
Entrez_Gene (NCBI)COL6A5  256076  collagen, type VI, alpha 5
AliasesCOL29A1; VWA4
GeneCards (Weizmann)COL6A5
Ensembl hg19 (Hinxton)ENSG00000172752 [Gene_View]  chr3:130064359-130203690 [Contig_View]  COL6A5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000172752 [Gene_View]  chr3:130064359-130203690 [Contig_View]  COL6A5 [Vega]
ICGC DataPortalENSG00000172752
TCGA cBioPortalCOL6A5
AceView (NCBI)COL6A5
Genatlas (Paris)COL6A5
WikiGenes256076
SOURCE (Princeton)COL6A5
Genetics Home Reference (NIH)COL6A5
Genomic and cartography
GoldenPath hg19 (UCSC)COL6A5  -     chr3:130064359-130203690 +  3q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COL6A5  -     3q22.1   [Description]    (hg38-Dec_2013)
EnsemblCOL6A5 - 3q22.1 [CytoView hg19]  COL6A5 - 3q22.1 [CytoView hg38]
Mapping of homologs : NCBICOL6A5 [Mapview hg19]  COL6A5 [Mapview hg38]
OMIM611916   
Gene and transcription
Genbank (Entrez)AI743837 AK093199 AK123718 AM906078 AM906079
RefSeq transcript (Entrez)NM_001278298 NM_153264
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_021424 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)COL6A5
Cluster EST : UnigeneHs.205403 [ NCBI ]
CGAP (NCI)Hs.205403
Alternative Splicing GalleryENSG00000172752
Gene ExpressionCOL6A5 [ NCBI-GEO ]   COL6A5 [ EBI - ARRAY_EXPRESS ]   COL6A5 [ SEEK ]   COL6A5 [ MEM ]
Gene Expression Viewer (FireBrowse)COL6A5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)256076
GTEX Portal (Tissue expression)COL6A5
Protein : pattern, domain, 3D structure
UniProt/SwissProtA8TX70   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA8TX70  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA8TX70
Splice isoforms : SwissVarA8TX70
PhosPhoSitePlusA8TX70
Domaine pattern : Prosite (Expaxy)VWFA (PS50234)   
Domains : Interpro (EBI)Collagen    VWF_A   
Domain families : Pfam (Sanger)Collagen (PF01391)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam01391    pfam00092   
Domain families : Smart (EMBL)VWA (SM00327)  
Conserved Domain (NCBI)COL6A5
DMDM Disease mutations256076
Blocks (Seattle)COL6A5
SuperfamilyA8TX70
Human Protein AtlasENSG00000172752
Peptide AtlasA8TX70
HPRD08196
IPIIPI00176125   IPI00892863   IPI00967272   IPI00965999   
Protein Interaction databases
DIP (DOE-UCLA)A8TX70
IntAct (EBI)A8TX70
FunCoupENSG00000172752
BioGRIDCOL6A5
STRING (EMBL)COL6A5
ZODIACCOL6A5
Ontologies - Pathways
QuickGOA8TX70
Ontology : AmiGOprotein binding  extracellular region  extracellular region  proteinaceous extracellular matrix  collagen trimer  cell adhesion  extracellular matrix disassembly  extracellular matrix organization  collagen catabolic process  extracellular matrix  
Ontology : EGO-EBIprotein binding  extracellular region  extracellular region  proteinaceous extracellular matrix  collagen trimer  cell adhesion  extracellular matrix disassembly  extracellular matrix organization  collagen catabolic process  extracellular matrix  
NDEx NetworkCOL6A5
Atlas of Cancer Signalling NetworkCOL6A5
Wikipedia pathwaysCOL6A5
Orthology - Evolution
OrthoDB256076
GeneTree (enSembl)ENSG00000172752
Phylogenetic Trees/Animal Genes : TreeFamCOL6A5
HOVERGENA8TX70
HOGENOMA8TX70
Homologs : HomoloGeneCOL6A5
Homology/Alignments : Family Browser (UCSC)COL6A5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL6A5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL6A5
dbVarCOL6A5
ClinVarCOL6A5
1000_GenomesCOL6A5 
Exome Variant ServerCOL6A5
ExAC (Exome Aggregation Consortium)COL6A5 (select the gene name)
Genetic variants : HAPMAP256076
Genomic Variants (DGV)COL6A5 [DGVbeta]
DECIPHER (Syndromes)3:130064359-130203690  ENSG00000172752
CONAN: Copy Number AnalysisCOL6A5 
Mutations
ICGC Data PortalCOL6A5 
TCGA Data PortalCOL6A5 
Broad Tumor PortalCOL6A5
OASIS PortalCOL6A5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL6A5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL6A5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch COL6A5
DgiDB (Drug Gene Interaction Database)COL6A5
DoCM (Curated mutations)COL6A5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL6A5 (select a term)
intoGenCOL6A5
Cancer3DCOL6A5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611916   
Orphanet
MedgenCOL6A5
Genetic Testing Registry COL6A5
NextProtA8TX70 [Medical]
TSGene256076
GENETestsCOL6A5
Huge Navigator COL6A5 [HugePedia]
snp3D : Map Gene to Disease256076
BioCentury BCIQCOL6A5
ClinGenCOL6A5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD256076
Chemical/Pharm GKB GenePA165696956
Clinical trialCOL6A5
Miscellaneous
canSAR (ICR)COL6A5 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL6A5
EVEXCOL6A5
GoPubMedCOL6A5
iHOPCOL6A5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:00:00 CET 2017

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