Variant Details for GPR98
Basic Information Top
| Gene Symbol: | GPR98 ( DKFZp761P0710,FEB4,KIAA0686,MASS1,USH2B,USH2C,VLGR1,VLGR1b ) |
|---|---|
| Gene Full Name: | G protein-coupled receptor 98 |
| Band: | 5q13 |
| Quick Links | Entrez ID:84059; OMIM: 602851; Uniprot ID:GPR98_HUMAN; ENSEMBL ID: ENSG00000164199; HGNC ID: |
| 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 | 4 | 1 | 0 | 1 | 0 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001237 | 5 | 5q14.3 | 89441320 | 90107108 | 665788 | gain | external link | Pinto, 2010 |
| AutCNV0000706 | 5 | 5q14.3 | 82764244 | 91874244 | 9110000 | loss | external link | Ezugha, 2010 |
| AutCNV0003910 | 5 | 5q14.3 | 90141680 | 90218239 | 76559 | gain | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 89949288 | G | A | c.3897G>A | p.Met1299Ile | Sanger sequencing | deleterious | 0.6451 | Sanders SJ, 2012 |
| 5 | 90144469 | A | G | p.Lys5679Glu | Sanger | Krumm N, 2015 | |||
| 5 | 90449166 | G | A | Sanger and Sequenom | Michaelson JJ, 2012 | ||||
| 5 | 90449224 | A | T | Sanger and Sequenom | Michaelson JJ, 2012 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 5 | 90074209 | G | A | mosaic | PASM | Dou Y, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| c.7582C>T | p.P2528S | Y | Farach LS, 2016 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||