Variant Details for RAPGEF2
Basic Information Top
| Gene Symbol: | RAPGEF2 ( CNrasGEF,NRAPGEP,PDZ-GEF1,PDZGEF1,RA-GEF,Rap-GEP,nRap GEP ) |
|---|---|
| Gene Full Name: | Rap guanine nucleotide exchange factor (GEF) 2 |
| Band: | 4q32.1 |
| Quick Links | Entrez ID:9693; OMIM: 609530; Uniprot ID:RPGF2_HUMAN; ENSEMBL ID: ENSG00000109756; HGNC ID: 16854 |
| 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 | 2 | 0 | 0 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000254 | 4 | 4q31.3-33 | 158017355 | 176452760 | 18435405 | loss | external link | Ramanathan, 2004 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 160264456 | C | G | Sanger sequencing | deleterious | 0.7022 | De Rubeis S, 2014 | ||
| 4 | 160259637 | C | A | strong | Iossifov I, 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! | |||||||