Variant Details for G3BP1
Basic Information Top
| Gene Symbol: | G3BP1 ( G3BP,HDH-VIII,MGC111040 ) |
|---|---|
| Gene Full Name: | GTPase activating protein (SH3 domain) binding protein 1 |
| Band: | 5q33.1 |
| Quick Links | Entrez ID:10146; OMIM: 608431; Uniprot ID:G3BP1_HUMAN; ENSEMBL ID: ENSG00000145907; HGNC ID: 30292 |
| 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 | 0 | 4 | 1 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 151173742 | A | G | PCR or Sanger sequencing | neutral | 0.0757 | Iossifov I, 2014 | ||
| 5 | 151166276 | G | A | HiSeq X and Sanger | neutral | 0.0793 | C Yuen RK, 2017 | ||
| 5 | 151180332 | G | A | c.1096G>A | p.Val366Met | Not_tested | neutral | 0.0742 | Takata A, 2018 |
| 5 | 151166277 | G | A | c.95+1G>A | Tammimies K, 2015 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 5 | 151166215 | G | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
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! | |||||||