Variant Details for ARHGEF4
Basic Information Top
| Gene Symbol: | ARHGEF4 ( ASEF,ASEF1,GEF4,STM6 ) |
|---|---|
| Gene Full Name: | Rho guanine nucleotide exchange factor (GEF) 4 |
| Band: | 2q21.1 |
| Quick Links | Entrez ID:50649; OMIM: 605216; Uniprot ID:ARHG4_HUMAN; ENSEMBL ID: ENSG00000136002; HGNC ID: 684 |
| 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 | 0 | 0 | 0 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000350 | 2 | 2q21.1 | 129883530 | 132483530 | 2600000 | external link | Zwaag, 2009 | |
| AutCNV0001621 | 2 | 2q21.1 | 131480411 | 132030681 | 550270 | gain | external link | Pinto, 2010 |
| AutCNV0005023 | 2 | 2q21.1 | 131481984 | 131915718 | 433734 | loss | external link | Eriksson MA, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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! | |||||||