Variant Details for BCL11A
Basic Information Top
| Gene Symbol: | BCL11A ( BCL11A-L,BCL11A-S,BCL11A-XL,CTIP1,EVI9,FLJ10173,FLJ34997,HBFQTL5,KIAA1809,ZNF856 ) |
|---|---|
| Gene Full Name: | B-cell CLL/lymphoma 11A (zinc finger protein) |
| Band: | 2p16.1 |
| Quick Links | Entrez ID:53335; OMIM: 606557; Uniprot ID:BC11A_HUMAN; ENSEMBL ID: ENSG00000119866; HGNC ID: 13221 |
| 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 | 4 | 0 | 2 | 0 | 0 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000252 | 2 | 2p16-15.1 | 56946496 | 62846496 | 5900000 | loss | external link | Rajcan-Separovic, 2007 |
| AutCNV0004893 | 2 | 2p15p16.1 | 59958420 | 60834298 | 875878 | loss | external link | Basak A, 2015 |
| AutCNV0004892 | 2 | 2p15p16.1 | 60029857 | 61059383 | 1029526 | loss | external link | Basak A, 2015 |
| AutCNV0004891 | 2 | 2p15p16.1 | 60689727 | 61128229 | 438502 | loss | external link | Basak A, 2015 |
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 | 60688721 | GA | G | Sanger sequencing | De Rubeis S, 2014 | ||||
| 2 | 60689403 | G | C | c.644C>G | p.Ser215* | Sanger sequencing | Cai T, 2017 | ||
| 0 | p.Thr47-p.Cys48 | Geisheker MR, 2017 | |||||||
| 2 | 60773348 | C | A | deleterious | 0.9732 | Deciphering Developmental , 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 60773435 | G | A | c.56C>T | p.Pro19Leu | Cai T, 2017 | |||
| 2 | 60688221 | G | c.1826delC | p.P609fs | Cai T, 2017 |
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! | |||||||