Variant Details for WDR75
Basic Information Top
| Gene Symbol: | WDR75 ( DKFZp781N1244,FLJ12519,NET16 ) |
|---|---|
| Gene Full Name: | WD repeat domain 75 |
| Band: | 2q32.2 |
| Quick Links | Entrez ID:84128; OMIM: NA; Uniprot ID:WDR75_HUMAN; ENSEMBL ID: ENSG00000115368; HGNC ID: 25725 |
| 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 | 2 | 0 | 0 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000261 | 2 | 2q32.1-32.3 | 182991755 | 197391755 | 14400000 | loss | external link | Gallagher, 2003 |
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 | 190323576 | A | T | Sanger sequencing | neutral | 0.0017 | De Rubeis S, 2014 | ||
| 2 | 190313139 | G | A | c.121G>A | p.Val41Ile | Not_tested | neutral | 0.2043 | 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! | |||||||