Variant Details for BANK1
Basic Information Top
| Gene Symbol: | BANK1 ( BANK,FLJ20706,FLJ34204 ) |
|---|---|
| Gene Full Name: | B-cell scaffold protein with ankyrin repeats 1 |
| Band: | 4q24 |
| Quick Links | Entrez ID:55024; OMIM: 610292; Uniprot ID:BANK1_HUMAN; ENSEMBL ID: ENSG00000153064; HGNC ID: 18233 |
| 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 | 0 | 0 | 0 | 0 | 2 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000130 | 4 | 4q21-23 | 86426849 | 103726763 | 17299914 | loss | external link | Jacquemont, 2006 |
| AutCNV0004062 | 4 | 4q23-q24 | 102246877 | 102355977 | 109100 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000084 | 4q24 | 4 | D4S1647 | - | 2.87 | - | Buxbaum, 2004 |
| AutLD0000105 | 4q23-24 | 4 | D4S1591 | - | 2.53 | - | Ylisaukko-oja, 2006 |