Variant Details for ARHGEF10
Basic Information Top
| Gene Symbol: | ARHGEF10 ( DKFZp686H0726,GEF10,MGC131664 ) |
|---|---|
| Gene Full Name: | Rho guanine nucleotide exchange factor (GEF) 10 |
| Band: | 8p23.3 |
| Quick Links | Entrez ID:9639; OMIM: 608136; Uniprot ID:ARHGA_HUMAN; ENSEMBL ID: ENSG00000104728; HGNC ID: 14103 |
| 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 | 5 | 2 | 0 | 0 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000271 | 8 | 8p23 | 10000 | 12655629 | 12645629 | loss | external link | Wassink, 2001 |
| AutCNV0000250 | 8 | 8p23.3-23.2 | 10000 | 6212592 | 6202592 | loss | external link | Yu, 2002 |
| AutCNV0000264 | 8 | 8p21-23 | 10000 | 29644081 | 29634081 | gain | external link | Papanikolaou, 2006 |
| AutCNV0000023 | 8 | 8p23.1-23.3 | 1143493 | 6793540 | 5650047 | loss | external link | Szatmari, 2007 |
| AutCNV0003264 | 8 | 8p23.3 | 1676789 | 1808256 | 131467 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 1806141 | A | G | Sanger sequencing | neutral | 0.0066 | De Rubeis S, 2014 | ||
| 8 | 1877564 | G | A | c.3034G>A | p.Ala1012Thr | Sanger sequencing | deleterious | 0.8669 | Li J, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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! | |||||||