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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. COL7A1, collagen, type VII, alpha 1
Sequence ID:NM_000094
RefSeqGene ID:NG_007065
Entrez Gene ID:1294
Ensembl ID:ENSG00000114270

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
EBD INVERSAMMP1
EBD, BART TYPE 
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD 
EPIDERMOLYSIS BULLOSA PRURIGINOSA 
EPIDERMOLYSIS BULLOSA, PRETIBIAL 
TOENAIL DYSTROPHY, ISOLATED 
TRANSIENT BULLOUSOF THE NEWBORN 

Cytogenetic Location (from UniGene)

Cytogenetic Location:3p21.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:3: 48601505 - 48632700

 Exon Info From UCSC:
NM_000094

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000085  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000094 NP_000085 Q02388 Kunitz_BPTI
fn3
VWA
Collagen

Related Sequences

 
mRNAGenPeptSwissProt
M96984 AAA36357 Q02388
L02870 AAA75438 Q02388
L06862 AAA89196 Q02388
M65158 AAA96439 Q02388
S51236 AAB24637 Q02388
D13694 BAA02853 Q02388
AB209645 BAD92882 Q59F16

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens COL7A1 NP_000085 M.musculus Col7a1 12836 Gene Info NP_031764 85
R.norvegicus Col7a1 301012   NP_001100328 84

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)