Variant Details for PIK3R2
Basic Information Top
| Gene Symbol: | PIK3R2 ( P85B,p85,p85-BETA ) |
|---|---|
| Gene Full Name: | phosphoinositide-3-kinase, regulatory subunit 2 (beta) |
| Band: | 19p13.11 |
| Quick Links | Entrez ID:5296; OMIM: 603157; Uniprot ID:P85B_HUMAN; ENSEMBL ID: ENSG00000105647; HGNC ID: 8980 |
| 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 | 1 | 0 | 0 | 2 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004772 | 2 | 2q21.3 | loss | Vi?as-Jornet M, 2014 | ||||
| AutCNV0004870 | 16 | 16p13.11 | 14985781 | 15273532 | 287751 | loss | external link | Gümü?lü KE, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 18273859 | G | A | PCR and MiSeq | deleterious | 0.9234 | Iossifov I, 2012 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 19 | 18273859 | G | A | Low-confidence mosaics | Resequencing | Lim ET, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000011 | 19p13.11 | 19 | D19S113 | 2.2 | - | - | McCauley, 2005 |
| AutLD0000010 | 19p13.11 | 19 | D19S930 | 2.55 | - | - | McCauley, 2005 |