Variant Details for PRKG1
Basic Information Top
| Gene Symbol: | PRKG1 ( CGKI,DKFZp686K042,FLJ36117,MGC71944,PGK,PKG,PRKG1B,PRKGR1B,cGKI-BETA,cGKI-alpha ) |
|---|---|
| Gene Full Name: | protein kinase, cGMP-dependent, type I |
| Band: | 10q11.23-q21.1 |
| Quick Links | Entrez ID:5592; OMIM: 176894; Uniprot ID:KGP1_HUMAN; ENSEMBL ID: ENSG00000185532; HGNC ID: 9414 |
| 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 | 7 | 1 | 0 | 0 | 0 | 1 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000008 | 10 | 10q11.23-21.2 | 50892143 | 61808505 | 10916362 | gain | external link | Sebat, 2007 |
| AutCNV0001971 | 10 | 10q11.23 | 53263809 | 53295318 | 31509 | loss | external link | Pinto, 2010 |
| AutCNV0004289 | 10 | 10q11.23-q21.1 | 53029510 | 54738810 | 1709300 | gain | external link | Sanders, 2011 |
| AutCNV0004288 | 10 | 10q11.23-q21.2 | 52002204 | 61820631 | 9818427 | gain | external link | Sanders, 2011 |
| AutCNV0003825 | 10 | 10q11.23-q21.1 | 53027235 | 54741308 | 1714073 | gain | external link | Levy, 2011 |
| AutCNV0004886 | 16 | 16q24.1 | 86194790 | 86642278 | 447488 | gain | external link | Dharmadhikari AV, 2014 |
| AutCNV0004696 | 9 | 9q33.1 | loss | Lionel AC, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 53628989 | T | C | Sequenom | Michaelson JJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000112 | 10p11.23-q11.23 | 10 | - | - | 1.89 | - | Spence, 2006 |