Variant Details for WHSC1
Basic Information Top
| Gene Symbol: | WHSC1 ( FLJ23286,KIAA1090,MGC176638,MMSET,NSD2,REIIBP,TRX5,WHS ) |
|---|---|
| Gene Full Name: | Wolf-Hirschhorn syndrome candidate 1 |
| Band: | 4p16.3 |
| Quick Links | Entrez ID:7468; OMIM: 602952; Uniprot ID:NSD2_HUMAN; ENSEMBL ID: ENSG00000109685; HGNC ID: |
| 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 | 2 | 3 | 0 | 0 | 0 | 1 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000019 | 4 | 4p15.32-16.3 | 408952 | 17368531 | 16959579 | loss | external link | Szatmari, 2007 |
| AutCNV0004234 | 4 | 4p16.2-p16.3 | 45410 | 3541587 | 3496177 | gain | external link | Sanders, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 1920309 | GC | G | Sanger sequencing | De Rubeis S, 2014 | ||||
| 4 | 1944041 | T | C | strong | Iossifov I, 2014 | ||||
| 4 | 1920309 | GC | G | Fromer M, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000019 | 4p16.3 | 4 | D4S2936 | 1.52 | - | - | Bailey, 1998 |