Variant Details for PPP2R5D
Basic Information Top
| Gene Symbol: | PPP2R5D ( B56D,MGC2134,MGC8949 ) |
|---|---|
| Gene Full Name: | protein phosphatase 2, regulatory subunit B', delta |
| Band: | 6p21.1 |
| Quick Links | Entrez ID:5528; OMIM: 601646; Uniprot ID:2A5D_HUMAN; ENSEMBL ID: ENSG00000112640; HGNC ID: 9312 |
| 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 | 1 | 6 | 0 | 0 | 4 | 0 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000699 | 6 | 6p21 | 29792021 | 45092022 | 15300001 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 42975179 | CT | C | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 6 | 42978887 | A | G | c.1672A>G | p.Met558Val | PCR and Sanger sequencing | neutral | 0.4696 | O'Roak BJ, 2014 |
| 6 | 42978705 | AAGAG | AAG | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 6 | 42975003 | G | A | c.592G>A | p.Glu198Lys | Sanger sequencing | neutral | 0.4696 | Takata A, 2018 |
| 0 | p.Glu198 | Geisheker MR, 2017 | |||||||
| 0 | c.592G>A | p.Glu198Lys | Bowling KM, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 42975000 | G | A | c.G589A | p.E197K | Y | neutral | 0.4696 | Shang L, 2016 |
| 6 | 42975003 | G | A | c.G592A | p.E198K | Y | neutral | 0.4696 | Shang L, 2016 |
| 6 | 42975009 | G | A | c.G598A | p.E200K | Y | neutral | 0.4696 | Shang L, 2016 |
| 6 | 42977066 | G | A | c.G1258A | p.E420K | Y | neutral | 0.4696 | Shang L, 2016 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||