Variant Details for BCLAF1
Basic Information Top
| Gene Symbol: | BCLAF1 ( BTF,KIAA0164,bK211L9.1 ) |
|---|---|
| Gene Full Name: | BCL2-associated transcription factor 1 |
| Band: | 6q23.3 |
| Quick Links | Entrez ID:9774; OMIM: 612588; Uniprot ID:BCLF1_HUMAN; ENSEMBL ID: ENSG00000029363; HGNC ID: 16863 |
| 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 | 0 | 1 | 2 | 1 | 0 | 2 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 136582483 | G | C | HiSeq X and Sanger | deleterious | 0.9332 | C Yuen RK, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 6 | 136597435 | G | C | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 6 | 136597334 | T | G | High-confidence mosaics | Resequencing | Lim ET, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 136589298 | T | A | c.2397+2T>A | p.Phe800? | Bi C, 2012 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000130 | 6q23.3 | 6 | D6S1009 | - | - | 0.00741 | Lauritsen, 2006 |
| AutLD0000152 | 6q22.32-q24.1 | 6 | rs1570056 | 1.81 | - | - | Allen-Brady, 2010 |