COL7A1
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
COL7A1 (HGNC:2214) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
collagen type VII alpha 1 chain
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
EBDCT, EBD1, EBR1
Alias symbols
No aliases found
%HI
45.68(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.69(Read more about gnomAD LOEUF score)
Cytoband
3p21.31
Genomic Coordinates
GRCh37/hg19: chr3:48601506-48632762 NCBI Ensembl UCSC
GRCh38/hg38: chr3:48564073-48595329 NCBI Ensembl UCSC
MANE Select Transcript
NM_000094.4 ENST00000681320.1 (Read more about MANE Select)
Function
Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-719
ClinGen Curation ID:
CCID:006911
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
02/08/2023

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Evidence:
HI Evidence Comments:
Biallelic loss of function variants in COL7A1 are causative of recessive dystrophic epidermolysis bullosa. Dominant dystrophic epidermolysis bullosa is associated with specific variants residing in the triple-helical region of COL7A1 gene as well as in-frame exon skipping. Both variant types are thought to result in the phenotype through modified/reduced protein function and there is no current evidence of haploinsufficiency or single loss of function variants resulting in a phenotype (Chen et al. 2022, PMID 36287101).

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)