• 30
    Haplo
    Score
  • 40
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ERCC5 (HGNC:3437) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ERCC excision repair 5, endonuclease
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ERCM2, XPGC
Alias symbols
No aliases found
%HI
52.57(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.81(Read more about gnomAD LOEUF score)
Cytoband
13q33.1
Genomic Coordinates
GRCh37/hg19: chr13:103498382-103528345 NCBI Ensembl UCSC
GRCh38/hg38: chr13:102846032-102875995 NCBI Ensembl UCSC
MANE Select Transcript
NM_000123.4 ENST00000652225.2 (Read more about MANE Select)
Function
Single-stranded structure-specific DNA endonuclease involved in DNA excision repair (PubMed:8206890, PubMed:8090225, PubMed:8078765, PubMed:7651464, PubMed:32821917, PubMed:32522879). Makes the 3'incision in DNA nucleotide excision repair (NER) (PubMed:8090225, PubMed:8078765, PubMed:32821917, PubMed:32522879). Binds and bends DNA repair bubble substrate and breaks base stacking at the single- strand/double-strand DNA junction of the DNA bubble (PubMed:32522879). Plays a role in base excision re... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10914
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Dosage Sensitivity Unlikely (40)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
40
TS Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)

Genomic View

Select assembly: (NC_000013.10) (NC_000013.11)