Variant Details for PRKAR1B
Basic Information Top
| Gene Symbol: | PRKAR1B ( PRKAR1 ) |
|---|---|
| Gene Full Name: | protein kinase, cAMP-dependent, regulatory, type I, beta |
| Band: | 7p22.3 |
| Quick Links | Entrez ID:5575; OMIM: 176911; Uniprot ID:KAP1_HUMAN; ENSEMBL ID: ENSG00000188191; HGNC ID: 9390 |
| 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 | 2 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000212 | 7 | 7p22.3 | 24384 | 1297910 | 1273526 | gain | external link | Christian, 2008 |
| AutCNV0000502 | 7 | 7p22.2-22.3 | 10239 | 2436600 | 2426361 | loss | external link | Gregory, 2009 |
| AutCNV0003591 | 7 | 7p22.3 | 45654 | 1410550 | 1364896 | gain | external link | Gai, 2011 |
| AutCNV0003590 | 7 | 7p22.3 | 45654 | 1328707 | 1283053 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 720252 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 7 | 624187 | G | A | PCR or Sanger sequencing | deleterious | 0.9739 | Iossifov I, 2014 |
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! | |||||||