| Variant ID | 8712 |
|---|---|
| Entrez Gene ID | 1161 |
| Gene | ERCC8 (GeneCards) |
| Location | hg19 5:60190745-60190745
hg38 5:60894918-60894918 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.60190745 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3153 |
| CADD Raw score (version 1.3) | 0.117225 (Deleterious) |
| FATHMM raw prediction score | 0.08523 (Tolerated) |
| Deleterious probability by DeFine | 0.1314 (Neutral) |
| Entrez Gene ID | 1161 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ERCC8 (GeneCards) |
| Number of variants in ERCC8 in this database | 2 (view all the variants) |
| Full name | ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
| Band | 5q12.1 |
| Other IDs | Vega: OTTHUMG00000097741 OMIM: 609412 HGNC: HGNC:3439 Ensembl: ENSG00000049167 |
| Other names | CSA, CKN1, UVSS2 |
| Summary | 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] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |