| Variant ID | 29863 |
|---|---|
| Entrez Gene ID | 9958 |
| Gene | USP15 (GeneCards) |
| Location | hg19 12:62749154-62749154
hg38 12:62355373-62355373 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000012.11:g.62749154 T>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 0.836 |
| CADD Raw score (version 1.3) | 9.291329 (Deleterious) |
| FATHMM raw prediction score | 0.98151 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.28 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.232 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.816 |
| Deleterious probability by DeFine | 0.8572 (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 | 28867142.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |