ERCC6 Chromosome 10
ERCC excision repair 6, chromatin remodeling factor
Upload your DNA to see your personal genotypes for variants in ERCC6.
What This Gene Does
This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
"SNF2 related family|ERCC excision repair associated|B-WICH chromatin-remodelling complex subunits"
Locus Type
gene with protein product
Location
10q11.23
Ensembl
ENSG00000225830
Associated Conditions (28)
Cockayne syndrome
Cerebrooculofacioskeletal syndrome 1
ERCC6-related disorder
Age related macular degeneration 5
Cockayne syndrome type 2
Inborn genetic diseases
Thymoma
DE SANCTIS-CACCHIONE SYNDROME
Hereditary breast ovarian cancer syndrome
7 conditions
Cone-rod dystrophy
Intellectual disability
6 conditions
Clear cell carcinoma of kidney
Uveal melanoma
Colon adenocarcinoma
Melanoma
Malignant tumor of esophagus
Familial cancer of breast
Ovarian serous cystadenocarcinoma
+8 more conditions
Key Variants
RS1057518910
Conflicting classifications of pathogenicity
Cockayne syndrome, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome
Health Risk
RS114234514
Conflicting classifications of pathogenicity
ERCC6-related disorder, ERCC6-related disorder
Health Risk
RS114403790
Conflicting classifications of pathogenicity
Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5, Cockayne syndrome type 2
Health Risk
RS114490473
Conflicting classifications of pathogenicity
Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Health Risk
RS114832108
Conflicting classifications of pathogenicity
Health Risk
RS115633798
Conflicting classifications of pathogenicity
Inborn genetic diseases, Thymoma, Inborn genetic diseases
Health Risk
RS115643329
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS115875661
Conflicting classifications of pathogenicity
Health Risk
RS115876786
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS116032070
Conflicting classifications of pathogenicity
Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Health Risk
RS1163269726
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cockayne syndrome type 2, Inborn genetic diseases
Health Risk
RS117555054
Conflicting classifications of pathogenicity
Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
Health Risk
All Variants (413)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2496032960 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS2496033253 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS2496033437 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS2496051000 | Health Risk | Likely pathogenic | — |
| RS2496064359 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS2496137655 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS2496137948 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS2496138250 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS2496138663 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS2496138678 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS2496138686 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS2496139138 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS2496141694 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS2496166571 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS2496167334 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS746159424 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS747903426 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, ERCC6-related disorder, Cockayne syndrome type 2 |
| RS748423645 | Health Risk | Likely pathogenic | — |
| RS754025384 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS755905226 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS768188064 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS768608345 | Health Risk | Likely pathogenic | Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME |
| RS770673858 | Health Risk | Likely pathogenic | — |
| RS771290763 | Health Risk | Likely pathogenic | — |
| RS777252763 | Health Risk | Likely pathogenic | Cerebrooculofacioskeletal syndrome 1, Cerebrooculofacioskeletal syndrome 1 |
| RS786205173 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS961060711 | Health Risk | Likely pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS1026438103 | Health Risk | Pathogenic | Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2 |
| RS1046584167 | Health Risk | Pathogenic | — |
| RS1158582797 | Health Risk | Pathogenic | — |
| RS1198241866 | Health Risk | Pathogenic | Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2 |
| RS121917900 | Health Risk | Pathogenic | Cockayne syndrome type 2, Cockayne syndrome type 2 |
| RS121917901 | Health Risk | Pathogenic | DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2, ERCC6-related disorder |
| RS121917902 | Health Risk | Pathogenic | Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME, Cerebrooculofacioskeletal syndrome 1 |
| RS121917903 | Health Risk | Pathogenic | UV-sensitive syndrome 1, Cockayne syndrome type 2, Cockayne syndrome |
| RS1223670390 | Health Risk | Pathogenic | — |
| RS1228394826 | Health Risk | Pathogenic | — |
| RS1238035020 | Health Risk | Pathogenic | — |
| RS1250248245 | Health Risk | Pathogenic | DE SANCTIS-CACCHIONE SYNDROME, DE SANCTIS-CACCHIONE SYNDROME |
| RS1254008304 | Health Risk | Pathogenic | Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2 |
| RS1272962297 | Health Risk | Pathogenic | — |
| RS1287286877 | Health Risk | Pathogenic | Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME |
| RS1294289633 | Health Risk | Pathogenic | — |
| RS1307714476 | Health Risk | Pathogenic | DE SANCTIS-CACCHIONE SYNDROME, DE SANCTIS-CACCHIONE SYNDROME |
| RS1309255175 | Health Risk | Pathogenic | — |
| RS1338061432 | Health Risk | Pathogenic | Cockayne spectrum with or without cerebrooculofacioskeletal syndrome, Cockayne spectrum with or without cerebrooculofacioskeletal syndrome |
| RS1339834464 | Health Risk | Pathogenic | — |
| RS1362935450 | Health Risk | Pathogenic | Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2 |
| RS1386369933 | Health Risk | Pathogenic | Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME, Cockayne syndrome type 2 |
| RS1436103479 | Health Risk | Pathogenic | — |