Variant Details for MPDZ
Basic Information Top
| Gene Symbol: | MPDZ ( DKFZp781P216,FLJ25909,FLJ34626,FLJ90240,MUPP1 ) |
|---|---|
| Gene Full Name: | multiple PDZ domain protein |
| Band: | 9p23 |
| Quick Links | Entrez ID:8777; OMIM: 603785; Uniprot ID:MPDZ_HUMAN; ENSEMBL ID: ENSG00000107186; HGNC ID: 7208 |
| 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 | 3 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000086 | 9 | 9p22.3-23 | 11621200 | 14491300 | 2870100 | gain | external link | Szatmari, 2007 |
| AutCNV0000084 | 9 | 9p13.3-24.3 | 249391 | 33926500 | 33677109 | gain | external link | Szatmari, 2007 |
| AutCNV0004839 | 12 | 12q24.23 | gain | Asadollahi R, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 13247770 | C | T | c.47G>A | p.Arg16His | Sanger sequencing | deleterious | 0.5125 | Neale BM, 2012 |
| 9 | 13140074 | A | G | Sanger sequencing | De Rubeis S, 2014 | ||||
| 9 | 13247770 | C | T | Sanger sequencing | deleterious | 0.5125 | De Rubeis S, 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! | |||||||