Variant Details for USP15
Basic Information Top
| Gene Symbol: | USP15 ( KIAA0529,MGC131982,MGC149838,MGC74854,UNPH4 ) |
|---|---|
| Gene Full Name: | ubiquitin specific peptidase 15 |
| Band: | 12q14.1 |
| Quick Links | Entrez ID:9958; OMIM: 604731; Uniprot ID:UBP15_HUMAN; ENSEMBL ID: ENSG00000135655; HGNC ID: 12613 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 1 | 3 | 1 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000102 | 12 | 12q12-24.33 | 46092533 | 132022120 | 85929587 | gain | external link | Szatmari, 2007 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 62775296 | * | 4D, -TGAG | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 12 | 62778084 | G | A | Chen R, 2017 | |||||
| 0 | Redin C, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|