Variant Details for PSD3
Basic Information Top
| Gene Symbol: | PSD3 ( DKFZp761K1423,EFA6R,HCA67 ) |
|---|---|
| Gene Full Name: | pleckstrin and Sec7 domain containing 3 |
| Band: | 8p22 |
| Quick Links | Entrez ID:23362; OMIM: NA; Uniprot ID:PSD3_HUMAN; ENSEMBL ID: ENSG00000156011; HGNC ID: 19093 |
| 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 | 6 | 1 | 0 | 0 | 0 | 1 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000264 | 8 | 8p21-23 | 10000 | 29644081 | 29634081 | gain | external link | Papanikolaou, 2006 |
| AutCNV0000680 | 8 | 8p21.2-p23.1 | 12241093 | 26707917 | 14466824 | gain | external link | Ozgen, 2009 |
| AutCNV0001902 | 8 | 8p21.3-22 | 18729817 | 19512537 | 782720 | gain | external link | Pinto, 2010 |
| AutCNV0001267 | 8 | 8p22 | 18804548 | 18863865 | 59317 | loss | external link | Pinto, 2010 |
| AutCNV0001088 | 8 | 8p21.3-22 | 18572835 | 19401575 | 828740 | gain | external link | Pinto, 2010 |
| AutCNV0000704 | 8 | 8p22 | 12655629 | 19055720 | 6400091 | loss | external link | Berkel, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 0 | Redin C, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000032 | 8p22 | 8 | D8S261 | 1.12 | - | - | Monaco, 2001 |