Variant Details for BEND3
Basic Information Top
| Gene Symbol: | BEND3 ( KIAA1553,RP11-59I9.2 ) |
|---|---|
| Gene Full Name: | BEN domain containing 3 |
| Band: | 6q21 |
| Quick Links | Entrez ID:57673; OMIM: NA; Uniprot ID:BEND3_HUMAN; ENSEMBL ID: ENSG00000178409; HGNC ID: 23040 |
| 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 | 3 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000075 | 6 | 6q16.3-21 | 104581307 | 112706307 | 8125000 | gain | external link | Szatmari, 2007 |
| AutCNV0000021 | 6 | 6q16.3-21 | 104581307 | 112706307 | 8125000 | gain | external link | Szatmari, 2007 |
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 | 107391881 | T | C | Sanger sequencing | neutral | 0.0941 | De Rubeis S, 2014 | ||
| 6 | 107419781 | C | T | c.214G>A | p.Val72Met | Not_tested | deleterious | 0.8119 | Takata A, 2018 |
| 6 | 107391881 | T | C | c.514AAT>GAT | p.172N>D | neutral | 0.0941 | Fromer M, 2014 |
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! | |||||||