Variant Details for ARHGEF7
Basic Information Top
| Gene Symbol: | ARHGEF7 ( BETA-PIX,COOL-1,COOL1,DKFZp686C12170,DKFZp761K1021,KIAA0142,KIAA0412,Nbla10314,P50,P50BP,P85,P85COOL1,P85SPR,PAK3,PIXB ) |
|---|---|
| Gene Full Name: | Rho guanine nucleotide exchange factor (GEF) 7 |
| Band: | 13q34 |
| Quick Links | Entrez ID:8874; OMIM: 605477; Uniprot ID:ARHG7_HUMAN; ENSEMBL ID: ENSG00000102606; HGNC ID: 15607 |
| 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 | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002834 | 13 | 13q34 | 111548261 | 111778013 | 229752 | gain | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 13 | 111927885 | T | C | c.1342T>C | p.Cys448Arg | Sanger sequencing | deleterious | 0.8751 | Takata A, 2018 |
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! | |||||||