Variant Details for ARHGEF2
Basic Information Top
| Gene Symbol: | ARHGEF2 ( DKFZp547L106,DKFZp547P1516,FLJ45440,GEF,GEF-H1,GEFH1,KIAA0651,LFP40,P40 ) |
|---|---|
| Gene Full Name: | Rho/Rac guanine nucleotide exchange factor (GEF) 2 |
| Band: | 1q22 |
| Quick Links | Entrez ID:9181; OMIM: 607560; Uniprot ID:ARHG2_HUMAN; ENSEMBL ID: ENSG00000116584; HGNC ID: 682 |
| 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 | 2 | 1 | 0 | 0 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000459 | 1 | 1q22-23.1 | 155804696 | 156539912 | 735216 | gain | external link | Gregory, 2009 |
| AutCNV0000458 | 1 | 1q21-22 | 155680449 | 156433946 | 753497 | gain | external link | Gregory, 2009 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 155932442 | G | A | Sanger sequencing | neutral | 0.3328 | De Rubeis S, 2014 |
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! | |||||||