ERCC5 |
- 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:
- xeroderma pigmentosum group G Monarch
Triplosensitivity (TS) Score Details
TS Score:
40
TS Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
Genomic View
Select assembly:
(NC_000013.10)
(NC_000013.11)