Variant Details for STXBP5
Basic Information Top
| Gene Symbol: | STXBP5 ( FLJ30922,LGL3,LLGL3,MGC141942,MGC141968,Nbla04300 ) |
|---|---|
| Gene Full Name: | syntaxin binding protein 5 (tomosyn) |
| Band: | 6q24.3 |
| Quick Links | Entrez ID:134957; OMIM: 604586; Uniprot ID:STXB5_HUMAN; ENSEMBL ID: ENSG00000164506; HGNC ID: 19665 |
| 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 | 2 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003580 | 6 | 6q24.3 | 147490398 | 147709180 | 218782 | loss | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 147635412 | A | G | Sanger sequencing | neutral | 0.0088 | De Rubeis S, 2014 | ||
| 6 | 147680342 | TC | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 0 | Redin C, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 147636753 | A | G | Y | Cukier HN, 2014 | ||||
| 6 | 147635108 | C | G | Y | Cukier HN, 2014 |
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! | |||||||