Variant Details for PDPR
Basic Information Top
| Gene Symbol: | PDPR ( DKFZp686A088,DKFZp686D16130,FLJ10079,PDP3 ) |
|---|---|
| Gene Full Name: | pyruvate dehydrogenase phosphatase regulatory subunit |
| Band: | 16q22.1 |
| Quick Links | Entrez ID:55066; OMIM: NA; Uniprot ID:PDPR_HUMAN; ENSEMBL ID: ENSG00000090857; HGNC ID: 30264 |
| 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 | 0 | 3 | 0 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000275 | 16 | 16q13-22 | 55942499 | 74742499 | 18800000 | loss | external link | Wassink, 2001 |
| AutCNV0002913 | 16 | 16q22.1 | 69998085 | 70170186 | 172101 | loss | external link | Pinto, 2010 |
| AutCNV0001145 | 16 | 16q22.1 | 69998085 | 70218367 | 220282 | gain | external link | Pinto, 2010 |
| AutCNV0004352 | 16 | 16q22.1-q22.3 | 69971965 | 72937079 | 2965114 | loss | external link | Sanders, 2011 |
| AutCNV0003396 | 16 | 16q22.1-22.3 | 69929137 | 71415506 | 1486369 | 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 |
|---|---|---|---|---|---|---|
| 16 | 70190680 | A | G | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 16 | 70176549 | G | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 16 | 70190680 | A | G | Mosaic | Krupp DR, 2017 |
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! | |||||||