Variant Details for BAZ1A
Basic Information Top
| Gene Symbol: | BAZ1A ( ACF1,DKFZp586E0518,FLJ14383,WALp1,WCRF180,hACF1 ) |
|---|---|
| Gene Full Name: | bromodomain adjacent to zinc finger domain, 1A |
| Band: | 14q13.1-q13.2 |
| Quick Links | Entrez ID:11177; OMIM: 605680; Uniprot ID:BAZ1A_HUMAN; ENSEMBL ID: ENSG00000198604; HGNC ID: 960 |
| 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 | 3 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004136 | 14 | 14q13.2 | 35190018 | 35323283 | 133265 | gain | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 14 | 35227958 | T | C | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 0 | Redin C, 2017 | ||||||||
| 14 | 35231162 | A | C | T4044G | F1348L | neutral | 0.0465 | Halvardson J, 2016 |
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! | |||||||