| Entrez Gene ID | 9958 |
|---|---|
| Official Gene Symbol | USP15 (GeneCards) |
| Full name | ubiquitin specific peptidase 15 |
| Location | 12q14.1 |
| Other ids | Vega : OTTHUMG00000170186 MIM : 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] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1576 | 9958 | USP15 | 12 | 62749154 | 62749154 | Autism Spectrum Disorders | NextSeq500 v2 |
| 16690 | 9958 | USP15 | 12 | 62785469 | 62785469 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 16811 | 9958 | USP15 | 12 | 62822925 | 62822925 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 16843 | 9958 | USP15 | 12 | 62852252 | 62852252 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 16972 | 9958 | USP15 | 12 | 62802120 | 62802120 | Cockayne syndrome | NextSeq500 v2 HiSeq X Ten |
| 29863 | 9958 | USP15 | 12 | 62749154 | 62749154 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq X Ten NextSeq500 |