ERCC4
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ERCC4 (HGNC:3436) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ERCC excision repair 4, endonuclease catalytic subunit
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
XPF
Alias symbols
RAD1, FANCQ
%HI
31.43(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.99(Read more about gnomAD LOEUF score)
Cytoband
16p13.12
Genomic Coordinates
GRCh37/hg19: chr16:14014011-14046205 NCBI Ensembl UCSC
GRCh38/hg38: chr16:13920154-13952348 NCBI Ensembl UCSC
MANE Select Transcript
NM_005236.3 ENST00000311895.8 (Read more about MANE Select)
Function
Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand cross-link (ICL) repair. {ECO:0000269|PubMed:10413517, ECO:0000269|PubMed:11790111, ECO:0000269|PubMed:19596235, ECO:0000269|PubMed:24027083, ECO:0000269|PubMed:32034146, ECO:0000269|PubMed:8797827}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-3548
ClinGen Curation ID:
CCID:007081
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/09/2023

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Evidence Comments:
Biallelic variants of ERCC4 have been identified with autosomal recessive Xeroderma pigmentosum, type F/Cockayne syndrome (OMIM 278760) which has skin cancer susceptibility, Fanconi anemia, complementation group Q (OMIM 615272), and XFE progeroid syndrome (OMIM 610925) through loss-of-function mechanism. Monoallelic variants of ERCC4 was not considered to be associated with predisposition to breast/ovarian cancer (24027083, 24465539) or colorectal cancer (27356891). However, pathogenic or likely pathogenic variants have been reported in patients with various cancer types including osteosarcoma (32191290, 34308104), medulloblastoma (29753700), lung cancer (36113475), and acute lymphoblastic leukemia (34308104). Especially monoallelic c.2169C>A (p.Cys723*) stop-gain variant has been reported in 5 unrelated cancer patients by two independent studies (one giant cell tumor of bone, one alveolar RMS, one breast cancer and two colon cancer). Two of the patients have cancer family history. Therefore, additional data are needed to further define the association of ERCC4 haploinsufficiency and cancer.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No evidence for triplosensitivity.

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)