Variant Details for PIK3CA
Basic Information Top
| Gene Symbol: | PIK3CA ( MGC142161,MGC142163,PI3K,p110-alpha ) |
|---|---|
| Gene Full Name: | phosphoinositide-3-kinase, catalytic, alpha polypeptide |
| Band: | 3q26.32 |
| Quick Links | Entrez ID:5290; OMIM: 171834; Uniprot ID:PK3CA_HUMAN; ENSEMBL ID: ENSG00000121879; HGNC ID: 8975 |
| 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 | 0 | 3 | 0 | 0 | 0 | 2 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 178916936 | G | A | molecular inversion probe rese | deleterious | 0.9073 | Turner TN, 2016 | ||
| 3 | 178947865 | G | A | c.2740G>A | NA | Not_tested | deleterious | 0.9073 | Takata A, 2018 |
| 3 | 178952088 | A | G | c.3143A>G | p.His1048Arg | Not_tested | deleterious | 0.9073 | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000041 | 3q26.32 | 3 | D3S3037 | 2.88 | - | - | Auranen, 2002 |
| AutLD0000144 | 3q26.31-27.3 | 3 | - | - | 4.85 | - | Allen-Brady, 2008 |