Variant Details for PRKCA
Basic Information Top
| Gene Symbol: | PRKCA ( AAG6,MGC129900,MGC129901,PKC-alpha,PKCA,PRKACA ) |
|---|---|
| Gene Full Name: | protein kinase C, alpha |
| Band: | 17q24.2 |
| Quick Links | Entrez ID:5578; OMIM: 176960; Uniprot ID:KPCA_HUMAN; ENSEMBL ID: ENSG00000154229; HGNC ID: 9393 |
| 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 | 4 | 4 | 0 | 0 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002136 | 17 | 17q24.2 | 64220250 | 64393868 | 173618 | gain | external link | Pinto, 2010 |
| AutCNV0000893 | 17 | 17q24.2 | 64410915 | 64482151 | 71236 | loss | external link | Pinto, 2010 |
| AutCNV0003736 | 17 | 17q24.2 | 64410915 | 64471675 | 60760 | loss | external link | Gai, 2011 |
| AutCNV0003735 | 17 | 17q24.2 | 64410915 | 64466864 | 55949 | loss | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 64684446 | G | R | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 17 | 64683232 | G | A | Sanger sequencing | neutral | 0.1093 | De Rubeis S, 2014 | ||
| 17 | 64685129 | C | T | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 17 | 64410805 | C | T | molecular inversion probe rese | Turner TN, 2016 |
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! | |||||||