Variant Details for STXBP1
Basic Information Top
| Gene Symbol: | STXBP1 ( FLJ37475,MUNC18-1,NSEC1,P67,RBSEC1,UNC18 ) |
|---|---|
| Gene Full Name: | syntaxin binding protein 1 |
| Band: | 9q34.11 |
| Quick Links | Entrez ID:6812; OMIM: 602926; Uniprot ID:STXB1_HUMAN; ENSEMBL ID: ENSG00000136854; HGNC ID: 11444 |
| 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 | 3 | 8 | 0 | 2 | 0 | 0 | 13 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000546 | 9 | 9q33.3-34.11 | 130027701 | 132620709 | 2593008 | loss | external link | Gregory, 2009 |
| AutCNV0000545 | 9 | 9q33.3-34.11 | 129888266 | 132486991 | 2598725 | loss | external link | Gregory, 2009 |
| AutCNV0005666 | 9 | 9 | Krumm N, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 130444788 | C | T | c.1651C>T | p.Arg551Cys | Sanger sequencing | deleterious | 0.9987 | Neale BM, 2012 |
| 9 | 130444788 | C | T | Sanger sequencing | deleterious | 0.9987 | De Rubeis S, 2014 | ||
| 9 | 130428475 | ATC | A | c.695_696del | p.Ile232Thrfs*6 | Sanger sequencing | Wang T, 2016 | ||
| 9 | 130444715 | GC | G | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 0 | p.Gly544 | Geisheker MR, 2017 | |||||||
| 0 | c.703C>T | p.(R235*) | Trujillano D, 2017 | ||||||
| 9 | 130435529 | C | T | Deciphering Developmental , 2015 | |||||
| 9 | 130444717 | C | p.A527fs | Y | Yuen RK, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 130374692 | A | A/G | Y | Wang T, 2016 | ||||
| 9 | 130422318 | T | C/T | Y | Wang T, 2016 |
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! | |||||||