Variant Details for WDR70
Basic Information Top
| Gene Symbol: | WDR70 ( FLJ10233 ) |
|---|---|
| Gene Full Name: | WD repeat domain 70 |
| Band: | 5p13.2 |
| Quick Links | Entrez ID:55100; OMIM: NA; Uniprot ID:WDR70_HUMAN; ENSEMBL ID: ENSG00000082068; HGNC ID: 25495 |
| 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 | 1 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002536 | 5 | 5p13.2 | 37184364 | 37391614 | 207250 | gain | external link | Pinto, 2010 |
| AutCNV0001749 | 5 | 5p13.2 | 37285525 | 37588460 | 302935 | gain | external link | Pinto, 2010 |
| AutCNV0003557 | 5 | 5p13.2 | 37364693 | 37737047 | 372354 | gain | external link | Gai, 2011 |
| AutCNV0003558 | 5 | 5p13.2 | 37430215 | 37737047 | 306832 | gain | external link | Gai, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 37744844 | T | C | Sequenom | Michaelson JJ, 2012 |
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! | |||||||