Variant Details for USP34
Basic Information Top
| Gene Symbol: | USP34 ( FLJ43910,KIAA0570,KIAA0729,MGC104459 ) |
|---|---|
| Gene Full Name: | ubiquitin specific peptidase 34 |
| Band: | 2p15 |
| Quick Links | Entrez ID:9736; OMIM: NA; Uniprot ID:UBP34_HUMAN; ENSEMBL ID: ENSG00000115464; HGNC ID: 20066 |
| 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 | 4 | 2 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000252 | 2 | 2p16-15.1 | 56946496 | 62846496 | 5900000 | loss | external link | Rajcan-Separovic, 2007 |
| AutCNV0004206 | 2 | 2p15 | 61536984 | 62019643 | 482659 | gain | external link | Sanders, 2011 |
| AutCNV0003887 | 2 | 2p15 | 61557273 | 63043808 | 1486535 | gain | external link | Levy, 2011 |
| AutCNV0005644 | 2 | 2 | Krumm N, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 61451537 | T | G | Sanger and Sequenom | Michaelson JJ, 2012 | ||||
| 2 | 61415298 | A | G | c.10580T>C | p.Ile3527Thr | Not_tested | deleterious | 0.7163 | Takata A, 2018 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||