ERCC4 Chromosome 16
ERCC excision repair 4, endonuclease catalytic subunit
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What This Gene Does
The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]
Gene Info
Gene Group
"FA complementation groups|Xeroderma pigmentosum complementation groups|ERCC excision repair associated"
Locus Type
gene with protein product
Location
16p13.12
Ensembl
ENSG00000175595
Associated Conditions (19)
Inborn genetic diseases
Xeroderma pigmentosum
group F
Fanconi anemia complementation group Q
Cockayne syndrome
XFE progeroid syndrome
Hutchinson-Gilford syndrome
Breast carcinoma
Carcinoma of pancreas
ERCC4-related disorder
Malignant tumor of esophagus
Hereditary cancer-predisposing syndrome
Ovarian cancer
Spastic ataxia
ERCC4-Related Disorders
Abnormality of blood and blood-forming tissues
Precursor B-cell acute lymphoblastic leukemia
type F/Cockayne syndrome
Autosomal recessive cerebellar ataxia
Key Variants
RS1184352382
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS121913049
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q
Health Risk
RS1255618541
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q
Health Risk
RS138532294
Conflicting classifications of pathogenicity
Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F
Health Risk
RS139406689
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group F, Cockayne syndrome
Health Risk
RS143347563
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group F, Cockayne syndrome
Health Risk
RS145315496
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group F, Cockayne syndrome
Health Risk
RS145851520
Conflicting classifications of pathogenicity
Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum
Health Risk
RS146601373
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group F, Cockayne syndrome
Health Risk
RS148791570
Conflicting classifications of pathogenicity
Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum
Health Risk
RS149927607
Conflicting classifications of pathogenicity
Cockayne syndrome, Xeroderma pigmentosum, group F
Health Risk
RS150077735
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group F, Cockayne syndrome
Health Risk
All Variants (92)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2141946068 | Health Risk | Likely pathogenic | Fanconi anemia complementation group Q, Fanconi anemia complementation group Q |
| RS2141946259 | Health Risk | Likely pathogenic | Abnormality of blood and blood-forming tissues, Abnormality of blood and blood-forming tissues |
| RS2543169545 | Health Risk | Likely pathogenic | Xeroderma pigmentosum, group F, Xeroderma pigmentosum |
| RS2543179894 | Health Risk | Likely pathogenic | Xeroderma pigmentosum, Xeroderma pigmentosum |
| RS2543184108 | Health Risk | Likely pathogenic | — |
| RS397509401 | Health Risk | Likely pathogenic | Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F |
| RS587777943 | Health Risk | Likely pathogenic | Xeroderma pigmentosum, group F, XFE progeroid syndrome |
| RS766652186 | Health Risk | Likely pathogenic | Ovarian cancer, Ovarian cancer |
| RS769120755 | Health Risk | Likely pathogenic | — |
| RS121913050 | Health Risk | Pathogenic | XFE progeroid syndrome, XFE progeroid syndrome |
| RS1355589374 | Health Risk | Pathogenic | Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum |
| RS1355878901 | Health Risk | Pathogenic | Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F |
| RS1555468482 | Health Risk | Pathogenic | Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum |
| RS2032078984 | Health Risk | Pathogenic | — |
| RS2032155264 | Health Risk | Pathogenic | Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum |
| RS2141619663 | Health Risk | Pathogenic | Xeroderma pigmentosum, group F, Xeroderma pigmentosum |
| RS2543161072 | Health Risk | Pathogenic | Cockayne syndrome, Xeroderma pigmentosum, group F |
| RS2543161364 | Health Risk | Pathogenic | Cockayne syndrome, Xeroderma pigmentosum, group F |
| RS2543174139 | Health Risk | Pathogenic | Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F |
| RS2543180252 | Health Risk | Pathogenic | — |
| RS34607888 | Health Risk | Pathogenic | — |
| RS397509400 | Health Risk | Pathogenic | Fanconi anemia complementation group Q, Precursor B-cell acute lymphoblastic leukemia, Xeroderma pigmentosum |
| RS397509402 | Health Risk | Pathogenic | Fanconi anemia complementation group Q, Fanconi anemia complementation group Q |
| RS397509404 | Health Risk | Pathogenic | Xeroderma pigmentosum, type F/Cockayne syndrome, Spastic ataxia |
| RS750971687 | Health Risk | Pathogenic | Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F |
| RS753149023 | Health Risk | Pathogenic | Cockayne syndrome, Xeroderma pigmentosum, group F |
| RS753325454 | Health Risk | Pathogenic | Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q |
| RS758362908 | Health Risk | Pathogenic | Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q |
| RS762738968 | Health Risk | Pathogenic | Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum |
| RS774510191 | Health Risk | Pathogenic | Cockayne syndrome, Fanconi anemia complementation group Q, Xeroderma pigmentosum |
| RS869025184 | Health Risk | Pathogenic | Xeroderma pigmentosum, group F, Xeroderma pigmentosum |
| RS900093826 | Health Risk | Pathogenic | Xeroderma pigmentosum, group F, Cockayne syndrome |
| RS1258096180 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group Q, Cockayne syndrome, Xeroderma pigmentosum |
| RS1419167361 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum, group F, Cockayne syndrome |
| RS147105770 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum, type F/Cockayne syndrome, Fanconi anemia complementation group Q |
| RS201179693 | Health Risk | Pathogenic/Likely pathogenic | Cockayne syndrome, Xeroderma pigmentosum, group F |
| RS2020959 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q |
| RS397509403 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum, type F/Cockayne syndrome, group F |
| RS772432152 | Health Risk | Pathogenic/Likely pathogenic | Xeroderma pigmentosum, group F, Fanconi anemia complementation group Q |
| RS772899497 | Health Risk | Pathogenic/Likely pathogenic | Cockayne syndrome, Xeroderma pigmentosum, group F |
| RS779091652 | Health Risk | Pathogenic/Likely pathogenic | Cockayne syndrome, Xeroderma pigmentosum, group F |
| RS780647908 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group Q, Xeroderma pigmentosum, group F |