Variant Details for AKAP6
Basic Information Top
| Gene Symbol: | AKAP6 ( ADAP100,ADAP6,AKAP100,KIAA0311,MGC165020,PRKA6,mAKAP ) |
|---|---|
| Gene Full Name: | A kinase (PRKA) anchor protein 6 |
| Band: | 14q12 |
| Quick Links | Entrez ID:9472; OMIM: 604691; Uniprot ID:AKAP6_HUMAN; ENSEMBL ID: ENSG00000151320; HGNC ID: 376 |
| 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 | 3 | 0 | 1 | 2 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000367 | 14 | 14q13.1 | 32730249 | 35030249 | 2300000 | external link | Zwaag, 2009 | |
| AutCNV0000934 | 14 | 14q13.1 | 33139950 | 33315424 | 175474 | gain | external link | Pinto, 2010 |
| AutCNV0003362 | 14 | 14q13.1 | 33139950 | 33327517 | 187567 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 14 | 33201692 | G | A | Mosaic | Krupp DR, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 14 | 33197222 | C | T | Doan RN, 2016 | |||||
| 14 | 33231252 | C | A | Doan RN, 2016 |
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! | |||||||