Variant Details for AKAP13
Basic Information Top
| Gene Symbol: | AKAP13 ( AKAP-Lbc,ARHGEF13,BRX,FLJ11952,FLJ43341,HA-3,Ht31,LBC,PROTO-LB,PROTO-LBC,c-lbc ) |
|---|---|
| Gene Full Name: | A kinase (PRKA) anchor protein 13 |
| Band: | 15q25.3 |
| Quick Links | Entrez ID:11214; OMIM: 604686; Uniprot ID:AKP13_HUMAN; ENSEMBL ID: ENSG00000170776; HGNC ID: 371 |
| 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 | 8 | 0 | 0 | 2 | 0 | 0 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000292 | 15 | 15q25-26.3 | 78312945 | 102521392 | 24208447 | gain | external link | Bonati, 2005 |
| AutCNV0000112 | 15 | 15q24.2-26.3 | 76503345 | 102352477 | 25849132 | gain | external link | Szatmari, 2007 |
| AutCNV0000110 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0000029 | 15 | 15q24.2-26.3 | 76503345 | 102352477 | 25849132 | gain | external link | Szatmari, 2007 |
| AutCNV0000028 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0002879 | 15 | 15q25.3 | 85815588 | 86143504 | 327916 | gain | external link | Pinto, 2010 |
| AutCNV0002878 | 15 | 15q25.3 | 85795204 | 86109582 | 314378 | gain | external link | Pinto, 2010 |
| AutCNV0002877 | 15 | 15q25.3 | 85721657 | 86143504 | 421847 | gain | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 15 | 86123268 | G | A | c.1969G>A | p.Gly657Arg | neutral | 0.0885 | Bi C, 2012 | |
| 15 | 86123851 | C | T | Y | Cukier HN, 2014 |
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! | |||||||