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COL7A1 (collagen type VII alpha 1)

Identity

Alias_namesEBDCT
EBD1
EBR1
epidermolysis bullosa, dystrophic, dominant and recessive
collagen, type VII, alpha 1
Other aliasNDNC8
HGNC (Hugo) COL7A1
LocusID (NCBI) 1294
Atlas_Id 43769
Location 3p21.31  [Link to chromosome band 3p21]
Location_base_pair Starts at 48601506 and ends at 48632593 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABHD14B (3p21.2) / COL7A1 (3p21.31)CD59 (11p13) / COL7A1 (3p21.31)COL7A1 (3p21.31) / CES4A (16q22.1)
COL7A1 (3p21.31) / UCN2 (3p21.31)RHOA (3p21.31) / COL7A1 (3p21.31)

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)COL7A1   2214
LRG (Locus Reference Genomic)LRG_286
Cards
Entrez_Gene (NCBI)COL7A1  1294  collagen type VII alpha 1
AliasesEBD1; EBDCT; EBR1; NDNC8
GeneCards (Weizmann)COL7A1
Ensembl hg19 (Hinxton)ENSG00000114270 [Gene_View]  chr3:48601506-48632593 [Contig_View]  COL7A1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000114270 [Gene_View]  chr3:48601506-48632593 [Contig_View]  COL7A1 [Vega]
ICGC DataPortalENSG00000114270
TCGA cBioPortalCOL7A1
AceView (NCBI)COL7A1
Genatlas (Paris)COL7A1
WikiGenes1294
SOURCE (Princeton)COL7A1
Genetics Home Reference (NIH)COL7A1
Genomic and cartography
GoldenPath hg19 (UCSC)COL7A1  -     chr3:48601506-48632593 -  3p21.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COL7A1  -     3p21.31   [Description]    (hg38-Dec_2013)
EnsemblCOL7A1 - 3p21.31 [CytoView hg19]  COL7A1 - 3p21.31 [CytoView hg38]
Mapping of homologs : NCBICOL7A1 [Mapview hg19]  COL7A1 [Mapview hg38]
OMIM120120   131705   131750   131850   132000   226600   604129   607523   
Gene and transcription
Genbank (Entrez)AB209645 BQ300155 D13694 L02870 L06862
RefSeq transcript (Entrez)NM_000094
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_007065 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)COL7A1
Cluster EST : UnigeneHs.476218 [ NCBI ]
CGAP (NCI)Hs.476218
Alternative Splicing GalleryENSG00000114270
Gene ExpressionCOL7A1 [ NCBI-GEO ]   COL7A1 [ EBI - ARRAY_EXPRESS ]   COL7A1 [ SEEK ]   COL7A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COL7A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1294
GTEX Portal (Tissue expression)COL7A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02388   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ02388  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02388
Splice isoforms : SwissVarQ02388
PhosPhoSitePlusQ02388
Domaine pattern : Prosite (Expaxy)BPTI_KUNITZ_1 (PS00280)    BPTI_KUNITZ_2 (PS50279)    FN3 (PS50853)    VWFA (PS50234)   
Domains : Interpro (EBI)Collagen    FN3_dom    Ig-like_fold    Kunitz_BPTI    Prtase_inh_Kunz-CS    VWF_A   
Domain families : Pfam (Sanger)Collagen (PF01391)    fn3 (PF00041)    Kunitz_BPTI (PF00014)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam01391    pfam00041    pfam00014    pfam00092   
Domain families : Smart (EMBL)FN3 (SM00060)  VWA (SM00327)  
Conserved Domain (NCBI)COL7A1
DMDM Disease mutations1294
Blocks (Seattle)COL7A1
SuperfamilyQ02388
Human Protein AtlasENSG00000114270
Peptide AtlasQ02388
HPRD00358
IPIIPI00025418   IPI00795118   IPI00853500   
Protein Interaction databases
DIP (DOE-UCLA)Q02388
IntAct (EBI)Q02388
FunCoupENSG00000114270
BioGRIDCOL7A1
STRING (EMBL)COL7A1
ZODIACCOL7A1
Ontologies - Pathways
QuickGOQ02388
Ontology : AmiGOGolgi membrane  serine-type endopeptidase inhibitor activity  protein binding  extracellular region  collagen type VII trimer  basement membrane  extracellular space  endoplasmic reticulum lumen  ER to Golgi vesicle-mediated transport  cell adhesion  epidermis development  negative regulation of endopeptidase activity  ER to Golgi transport vesicle  extracellular matrix organization  collagen catabolic process  extracellular matrix  endoplasmic reticulum-Golgi intermediate compartment membrane  endodermal cell differentiation  identical protein binding  COPII vesicle coating  
Ontology : EGO-EBIGolgi membrane  serine-type endopeptidase inhibitor activity  protein binding  extracellular region  collagen type VII trimer  basement membrane  extracellular space  endoplasmic reticulum lumen  ER to Golgi vesicle-mediated transport  cell adhesion  epidermis development  negative regulation of endopeptidase activity  ER to Golgi transport vesicle  extracellular matrix organization  collagen catabolic process  extracellular matrix  endoplasmic reticulum-Golgi intermediate compartment membrane  endodermal cell differentiation  identical protein binding  COPII vesicle coating  
Pathways : KEGGProtein digestion and absorption   
NDEx NetworkCOL7A1
Atlas of Cancer Signalling NetworkCOL7A1
Wikipedia pathwaysCOL7A1
Orthology - Evolution
OrthoDB1294
GeneTree (enSembl)ENSG00000114270
Phylogenetic Trees/Animal Genes : TreeFamCOL7A1
HOVERGENQ02388
HOGENOMQ02388
Homologs : HomoloGeneCOL7A1
Homology/Alignments : Family Browser (UCSC)COL7A1
Gene fusions - Rearrangements
Fusion : MitelmanRHOA/COL7A1 [3p21.31/3p21.31]  [t(3;3)(p21;p21)]  
Fusion Cancer (Beijing)CD59 [11p13]  -  COL7A1 [3p21.31]  [FUSC002407]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOL7A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COL7A1
dbVarCOL7A1
ClinVarCOL7A1
1000_GenomesCOL7A1 
Exome Variant ServerCOL7A1
ExAC (Exome Aggregation Consortium)COL7A1 (select the gene name)
Genetic variants : HAPMAP1294
Genomic Variants (DGV)COL7A1 [DGVbeta]
DECIPHER (Syndromes)3:48601506-48632593  ENSG00000114270
CONAN: Copy Number AnalysisCOL7A1 
Mutations
ICGC Data PortalCOL7A1 
TCGA Data PortalCOL7A1 
Broad Tumor PortalCOL7A1
OASIS PortalCOL7A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOL7A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOL7A1
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch COL7A1
DgiDB (Drug Gene Interaction Database)COL7A1
DoCM (Curated mutations)COL7A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COL7A1 (select a term)
intoGenCOL7A1
Cancer3DCOL7A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM120120    131705    131750    131850    132000    226600    604129    607523   
Orphanet17234    17233    19201    11908    11907    11906    11904    11435    11434    11437    11436   
MedgenCOL7A1
Genetic Testing Registry COL7A1
NextProtQ02388 [Medical]
TSGene1294
GENETestsCOL7A1
Huge Navigator COL7A1 [HugePedia]
snp3D : Map Gene to Disease1294
BioCentury BCIQCOL7A1
ClinGenCOL7A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1294
Chemical/Pharm GKB GenePA26730
Clinical trialCOL7A1
Miscellaneous
canSAR (ICR)COL7A1 (select the gene name)
Probes
Litterature
PubMed151 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOL7A1
EVEXCOL7A1
GoPubMedCOL7A1
iHOPCOL7A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:57:14 CEST 2017

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