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COL6A6 (collagen type VI alpha 6 chain)

Identity

Alias_namescollagen, type VI, alpha 6
Other alias-
HGNC (Hugo) COL6A6
LocusID (NCBI) 131873
Atlas_Id 62000
Location 3q22.1  [Link to chromosome band 3q22]
Location_base_pair Starts at 130560334 and ends at 130677044 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EIF3B (7p22.3) / COL6A6 (3q22.1)

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)COL6A6   27023
Cards
Entrez_Gene (NCBI)COL6A6  131873  collagen type VI alpha 6 chain
Aliases
GeneCards (Weizmann)COL6A6
Ensembl hg19 (Hinxton)ENSG00000206384 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000206384 [Gene_View]  chr3:130560334-130677044 [Contig_View]  COL6A6 [Vega]
ICGC DataPortalENSG00000206384
TCGA cBioPortalCOL6A6
AceView (NCBI)COL6A6
Genatlas (Paris)COL6A6
WikiGenes131873
SOURCE (Princeton)COL6A6
Genetics Home Reference (NIH)COL6A6
Genomic and cartography
GoldenPath hg38 (UCSC)COL6A6  -     chr3:130560334-130677044 +  3q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL6A6  -     3q22.1   [Description]    (hg19-Feb_2009)
EnsemblCOL6A6 - 3q22.1 [CytoView hg19]  COL6A6 - 3q22.1 [CytoView hg38]
Mapping of homologs : NCBICOL6A6 [Mapview hg19]  COL6A6 [Mapview hg38]
OMIM616613   
Gene and transcription
Genbank (Entrez)AF086237 AL713792 AM774225 AM774226 AM774227
RefSeq transcript (Entrez)NM_001102608
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COL6A6
Cluster EST : UnigeneHs.596805 [ NCBI ]
CGAP (NCI)Hs.596805
Alternative Splicing GalleryENSG00000206384
Gene ExpressionCOL6A6 [ NCBI-GEO ]   COL6A6 [ EBI - ARRAY_EXPRESS ]   COL6A6 [ SEEK ]   COL6A6 [ MEM ]
Gene Expression Viewer (FireBrowse)COL6A6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)131873
GTEX Portal (Tissue expression)COL6A6
Protein : pattern, domain, 3D structure
UniProt/SwissProtA6NMZ7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA6NMZ7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA6NMZ7
Splice isoforms : SwissVarA6NMZ7
PhosPhoSitePlusA6NMZ7
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)COL6A6
DMDM Disease mutations131873
Blocks (Seattle)COL6A6
SuperfamilyA6NMZ7
Human Protein AtlasENSG00000206384
Peptide AtlasA6NMZ7
IPIIPI00856012   IPI00878721   IPI00964359   
Protein Interaction databases
DIP (DOE-UCLA)A6NMZ7
IntAct (EBI)A6NMZ7
FunCoupENSG00000206384
BioGRIDCOL6A6
STRING (EMBL)COL6A6
ZODIACCOL6A6
Ontologies - Pathways
QuickGOA6NMZ7
Ontology : AmiGOextracellular region  proteinaceous extracellular matrix  collagen trimer  cell adhesion  collagen catabolic process  
Ontology : EGO-EBIextracellular region  proteinaceous extracellular matrix  collagen trimer  cell adhesion  collagen catabolic process  
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Protein digestion and absorption   
NDEx NetworkCOL6A6
Atlas of Cancer Signalling NetworkCOL6A6
Wikipedia pathwaysCOL6A6
Orthology - Evolution
OrthoDB131873
GeneTree (enSembl)ENSG00000206384
Phylogenetic Trees/Animal Genes : TreeFamCOL6A6
HOVERGENA6NMZ7
HOGENOMA6NMZ7
Homologs : HomoloGeneCOL6A6
Homology/Alignments : Family Browser (UCSC)COL6A6
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL6A6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL6A6
dbVarCOL6A6
ClinVarCOL6A6
1000_GenomesCOL6A6 
Exome Variant ServerCOL6A6
ExAC (Exome Aggregation Consortium)COL6A6 (select the gene name)
Genetic variants : HAPMAP131873
Genomic Variants (DGV)COL6A6 [DGVbeta]
DECIPHERCOL6A6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOL6A6 
Mutations
ICGC Data PortalCOL6A6 
TCGA Data PortalCOL6A6 
Broad Tumor PortalCOL6A6
OASIS PortalCOL6A6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL6A6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL6A6
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 COL6A6
DgiDB (Drug Gene Interaction Database)COL6A6
DoCM (Curated mutations)COL6A6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL6A6 (select a term)
intoGenCOL6A6
Cancer3DCOL6A6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616613   
Orphanet
MedgenCOL6A6
Genetic Testing Registry COL6A6
NextProtA6NMZ7 [Medical]
TSGene131873
GENETestsCOL6A6
Target ValidationCOL6A6
Huge Navigator COL6A6 [HugePedia]
snp3D : Map Gene to Disease131873
BioCentury BCIQCOL6A6
ClinGenCOL6A6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD131873
Chemical/Pharm GKB GenePA165697087
Clinical trialCOL6A6
Miscellaneous
canSAR (ICR)COL6A6 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL6A6
EVEXCOL6A6
GoPubMedCOL6A6
iHOPCOL6A6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:44:14 CEST 2017

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