Variant Details for PDE9A
Basic Information Top
| Gene Symbol: | PDE9A ( FLJ90181,HSPDE9A2 ) |
|---|---|
| Gene Full Name: | phosphodiesterase 9A |
| Band: | 21q22.3 |
| Quick Links | Entrez ID:5152; OMIM: 602973; Uniprot ID:PDE9A_HUMAN; ENSEMBL ID: ENSG00000160191; HGNC ID: 8795 |
| 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 | 5 | 1 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000134 | 21 | 21q22 | 39154938 | 47152380 | 7997442 | loss | external link | Jacquemont, 2006 |
| AutCNV0000156 | 21 | 21q22.3 | 44101079 | 44455015 | 353936 | gain | external link | Marshall, 2008 |
| AutCNV0000965 | 21 | 21q22.3 | 44169928 | 44453278 | 283350 | gain | external link | Pinto, 2010 |
| AutCNV0004431 | 21 | 21q22.3 | 43939998 | 44259497 | 319499 | gain | external link | Nord, 2011 |
| AutCNV0004387 | 21 | 21q22.3 | 44101079 | 44455015 | 353936 | gain | external link | Sanders, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 21 | 44144183 | G | T | Sanger and 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||