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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)