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COL8A1 (collagen type VIII alpha 1 chain)

Identity

Alias_namesC3orf7
chromosome 3 open reading frame 7
collagen, type VIII, alpha 1
Alias_symbol (synonym)MGC9568
Other alias
HGNC (Hugo) COL8A1
LocusID (NCBI) 1295
Atlas_Id 56124
Location 3q12.1  [Link to chromosome band 3q12]
Location_base_pair Starts at 99638596 and ends at 99796733 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GSK3B (3q13.33) / COL8A1 (3q12.1)

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)COL8A1   2215
Cards
Entrez_Gene (NCBI)COL8A1  1295  collagen type VIII alpha 1 chain
AliasesC3orf7
GeneCards (Weizmann)COL8A1
Ensembl hg19 (Hinxton)ENSG00000144810 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000144810 [Gene_View]  chr3:99638596-99796733 [Contig_View]  COL8A1 [Vega]
ICGC DataPortalENSG00000144810
TCGA cBioPortalCOL8A1
AceView (NCBI)COL8A1
Genatlas (Paris)COL8A1
WikiGenes1295
SOURCE (Princeton)COL8A1
Genetics Home Reference (NIH)COL8A1
Genomic and cartography
GoldenPath hg38 (UCSC)COL8A1  -     chr3:99638596-99796733 +  3q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COL8A1  -     3q12.1   [Description]    (hg19-Feb_2009)
EnsemblCOL8A1 - 3q12.1 [CytoView hg19]  COL8A1 - 3q12.1 [CytoView hg38]
Mapping of homologs : NCBICOL8A1 [Mapview hg19]  COL8A1 [Mapview hg38]
OMIM120251   
Gene and transcription
Genbank (Entrez)AF170702 AK311449 AL359062 AY550974 BC013581
RefSeq transcript (Entrez)NM_001850 NM_020351
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COL8A1
Cluster EST : UnigeneHs.740617 [ NCBI ]
CGAP (NCI)Hs.740617
Alternative Splicing GalleryENSG00000144810
Gene ExpressionCOL8A1 [ NCBI-GEO ]   COL8A1 [ EBI - ARRAY_EXPRESS ]   COL8A1 [ SEEK ]   COL8A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL8A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1295
GTEX Portal (Tissue expression)COL8A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP27658   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP27658  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP27658
Splice isoforms : SwissVarP27658
PhosPhoSitePlusP27658
Domaine pattern : Prosite (Expaxy)C1Q (PS50871)   
Domains : Interpro (EBI)C1q_dom    Collagen    Tumour_necrosis_fac-like_dom   
Domain families : Pfam (Sanger)C1q (PF00386)    Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam00386    pfam01391   
Domain families : Smart (EMBL)C1Q (SM00110)  
Conserved Domain (NCBI)COL8A1
DMDM Disease mutations1295
Blocks (Seattle)COL8A1
SuperfamilyP27658
Human Protein AtlasENSG00000144810
Peptide AtlasP27658
HPRD00372
IPIIPI00219000   IPI00852673   
Protein Interaction databases
DIP (DOE-UCLA)P27658
IntAct (EBI)P27658
FunCoupENSG00000144810
BioGRIDCOL8A1
STRING (EMBL)COL8A1
ZODIACCOL8A1
Ontologies - Pathways
QuickGOP27658
Ontology : AmiGOangiogenesis  protein binding  extracellular region  collagen type VIII trimer  extracellular space  endoplasmic reticulum lumen  cell adhesion  positive regulation of cell-substrate adhesion  extracellular matrix organization  collagen catabolic process  extracellular matrix  extracellular matrix  endodermal cell differentiation  camera-type eye morphogenesis  epithelial cell proliferation  extracellular exosome  
Ontology : EGO-EBIangiogenesis  protein binding  extracellular region  collagen type VIII trimer  extracellular space  endoplasmic reticulum lumen  cell adhesion  positive regulation of cell-substrate adhesion  extracellular matrix organization  collagen catabolic process  extracellular matrix  extracellular matrix  endodermal cell differentiation  camera-type eye morphogenesis  epithelial cell proliferation  extracellular exosome  
NDEx NetworkCOL8A1
Atlas of Cancer Signalling NetworkCOL8A1
Wikipedia pathwaysCOL8A1
Orthology - Evolution
OrthoDB1295
GeneTree (enSembl)ENSG00000144810
Phylogenetic Trees/Animal Genes : TreeFamCOL8A1
HOVERGENP27658
HOGENOMP27658
Homologs : HomoloGeneCOL8A1
Homology/Alignments : Family Browser (UCSC)COL8A1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL8A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL8A1
dbVarCOL8A1
ClinVarCOL8A1
1000_GenomesCOL8A1 
Exome Variant ServerCOL8A1
ExAC (Exome Aggregation Consortium)COL8A1 (select the gene name)
Genetic variants : HAPMAP1295
Genomic Variants (DGV)COL8A1 [DGVbeta]
DECIPHERCOL8A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOL8A1 
Mutations
ICGC Data PortalCOL8A1 
TCGA Data PortalCOL8A1 
Broad Tumor PortalCOL8A1
OASIS PortalCOL8A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL8A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL8A1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch COL8A1
DgiDB (Drug Gene Interaction Database)COL8A1
DoCM (Curated mutations)COL8A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL8A1 (select a term)
intoGenCOL8A1
Cancer3DCOL8A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120251   
Orphanet
MedgenCOL8A1
Genetic Testing Registry COL8A1
NextProtP27658 [Medical]
TSGene1295
GENETestsCOL8A1
Target ValidationCOL8A1
Huge Navigator COL8A1 [HugePedia]
snp3D : Map Gene to Disease1295
BioCentury BCIQCOL8A1
ClinGenCOL8A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1295
Chemical/Pharm GKB GenePA26731
Clinical trialCOL8A1
Miscellaneous
canSAR (ICR)COL8A1 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL8A1
EVEXCOL8A1
GoPubMedCOL8A1
iHOPCOL8A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:03:18 CEST 2017

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