ERCC8 Chromosome 5
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
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What This Gene Does
This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
"WD repeat domain containing|ERCC excision repair associated"
Locus Type
gene with protein product
Location
5q12.1
Ensembl
ENSG00000049167
Associated Conditions (10)
Cockayne syndrome type 1
UV-sensitive syndrome 2
Hereditary breast ovarian cancer syndrome
ERCC8-related disorder
Cockayne syndrome
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
See cases
Sarcoma
Abnormality of the nervous system
Key Variants
RS1173045461
Conflicting classifications of pathogenicity
Cockayne syndrome type 1, Cockayne syndrome type 1
Health Risk
RS138173863
Conflicting classifications of pathogenicity
Cockayne syndrome type 1, Cockayne syndrome type 1
Health Risk
RS141845482
Conflicting classifications of pathogenicity
Cockayne syndrome type 1, UV-sensitive syndrome 2, Cockayne syndrome type 1
Health Risk
RS143356896
Conflicting classifications of pathogenicity
Cockayne syndrome type 1, Cockayne syndrome type 1
Health Risk
RS1462459648
Conflicting classifications of pathogenicity
Health Risk
RS149130938
Conflicting classifications of pathogenicity
Cockayne syndrome type 1, Cockayne syndrome type 1
Health Risk
RS150727525
Conflicting classifications of pathogenicity
Cockayne syndrome type 1, UV-sensitive syndrome 2, Cockayne syndrome type 1
Health Risk
RS2531798461
Conflicting classifications of pathogenicity
Cockayne syndrome type 1, Cockayne syndrome type 1
Health Risk
RS373174008
Conflicting classifications of pathogenicity
Cockayne syndrome type 1, Cockayne syndrome type 1
Health Risk
RS543291626
Conflicting classifications of pathogenicity
Cockayne syndrome type 1, UV-sensitive syndrome 2, Cockayne syndrome type 1
Health Risk
RS561001438
Conflicting classifications of pathogenicity
Cockayne syndrome type 1, Cockayne syndrome type 1
Health Risk
RS61754098
Conflicting classifications of pathogenicity
Cockayne syndrome type 1, Hereditary breast ovarian cancer syndrome, ERCC8-related disorder
Health Risk
All Variants (114)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1580023012 | Health Risk | Pathogenic/Likely pathogenic | Cockayne syndrome type 1, Cockayne syndrome type 1 |
| RS1748966825 | Health Risk | Pathogenic/Likely pathogenic | UV-sensitive syndrome 2, Cockayne syndrome type 1, UV-sensitive syndrome 2 |
| RS1749497228 | Health Risk | Pathogenic/Likely pathogenic | UV-sensitive syndrome 2, Cockayne syndrome type 1, UV-sensitive syndrome 2 |
| RS1749618632 | Health Risk | Pathogenic/Likely pathogenic | Cockayne syndrome type 1, UV-sensitive syndrome 2, Cockayne syndrome type 1 |
| RS2112491212 | Health Risk | Pathogenic/Likely pathogenic | ERCC8-related disorder, Cockayne syndrome, ERCC8-related disorder |
| RS2112532350 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2531802219 | Health Risk | Pathogenic/Likely pathogenic | UV-sensitive syndrome 2, Cockayne syndrome type 1, UV-sensitive syndrome 2 |
| RS2531802402 | Health Risk | Pathogenic/Likely pathogenic | Cockayne syndrome type 1, Cockayne syndrome type 1 |
| RS370657735 | Health Risk | Pathogenic/Likely pathogenic | Cockayne syndrome type 1, Cockayne syndrome, UV-sensitive syndrome 2 |
| RS372237310 | Health Risk | Pathogenic/Likely pathogenic | Cockayne syndrome type 1, UV-sensitive syndrome 2, Cockayne syndrome type 1 |
| RS530679736 | Health Risk | Pathogenic/Likely pathogenic | ERCC8-related disorder, Cockayne syndrome type 1, UV-sensitive syndrome 2 |
| RS756880941 | Health Risk | Pathogenic/Likely pathogenic | UV-sensitive syndrome 2, Cockayne syndrome type 1, UV-sensitive syndrome 2 |
| RS770499406 | Health Risk | Pathogenic/Likely pathogenic | Cockayne syndrome type 1, Cockayne syndrome, UV-sensitive syndrome 2 |
| RS897535441 | Health Risk | Pathogenic/Likely pathogenic | Cockayne syndrome type 1, Cockayne syndrome type 1, Cockayne syndrome type 1 |