Variant Details for STXBP5L
Basic Information Top
| Gene Symbol: | STXBP5L ( KIAA1006,LLGL4 ) |
|---|---|
| Gene Full Name: | syntaxin binding protein 5-like |
| Band: | 3q13.33 |
| Quick Links | Entrez ID:9515; OMIM: 609381; Uniprot ID:STB5L_HUMAN; ENSEMBL ID: ENSG00000145087; HGNC ID: 30757 |
| 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 | 4 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001678 | 3 | 3q13.33 | 120688750 | 120783438 | 94688 | loss | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 120628487 | G | A | c.62G>A | p.Gly21Asp | Sanger sequencing | neutral | 0.0015 | Jiang YH, 2013 |
| 3 | 120628487 | G | A | Sanger sequencing | neutral | 0.0015 | Yuen RK, 2016 | ||
| 3 | 120673792 | CG | C | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 3 | 120628487 | c.G62A | neutral | 0.0015 | Jiang YH, 2013 |
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! | |||||||