| Variant ID | 16972 |
|---|---|
| Entrez Gene ID | 9958 |
| Gene | USP15 (GeneCards) |
| Location | hg19 12:62802120-62802120
hg38 12:62408340-62408340 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.62802120 A>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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0542 |
| CADD Raw score (version 1.3) | -0.24709 (Deleterious) |
| FATHMM raw prediction score | 0.22707 (Tolerated) |
| Deleterious probability by DeFine | 0.5292 (Deleterious) |
| Entrez Gene ID | 9958 (NCBI Gene) |
|---|---|
| Official Gene Symbol | USP15 (GeneCards) |
| Number of variants in USP15 in this database | 6 (view all the variants) |
| Full name | ubiquitin specific peptidase 15 |
| Band | 12q14.1 |
| Other IDs | Vega: OTTHUMG00000170186 OMIM: 604731 HGNC: HGNC:12613 Ensembl: ENSG00000135655 |
| Other names | UNPH4, UNPH-2 |
| Summary | This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain disassembly and hydrolysis of ubiquitin-substrate bonds. The encoded protein associates with the COP9 signalosome, and also plays a role in transforming growth factor beta signalling through deubiquitination of receptor-activated SMAD transcription factors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 2. [provided by RefSeq, Nov 2011] |
| Individual ID | 29217584.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |