Variant Details for BAZ2B
Basic Information Top
| Gene Symbol: | BAZ2B ( DKFZp434H071,DKFZp762I0516,FLJ45644,WALp4 ) |
|---|---|
| Gene Full Name: | bromodomain adjacent to zinc finger domain, 2B |
| Band: | 2q24.2 |
| Quick Links | Entrez ID:29994; OMIM: 605683; Uniprot ID:BAZ2B_HUMAN; ENSEMBL ID: ENSG00000123636; HGNC ID: 963 |
| 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 | 4 | 1 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000409 | 2 | 2q24.1-24.3 | 152815504 | 165266754 | 12451250 | loss | external link | Gregory, 2009 |
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 | 160182250 | G | GT | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 2 | 160231217 | A | C | PCR or Sanger sequencing | neutral | 0.0802 | Iossifov I, 2014 | ||
| 2 | 160289731 | G | A | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 0 | c.242C>G | p.Ser81Ter | Bowling KM, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 2 | 160239207 | G | A | Mosaic | Krupp DR, 2017 |
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! | |||||||