Variant Details for PPP1R3F
Basic Information Top
| Gene Symbol: | PPP1R3F ( HB2E ) |
|---|---|
| Gene Full Name: | protein phosphatase 1, regulatory (inhibitor) subunit 3F |
| Band: | Xp11.23 |
| Quick Links | Entrez ID:89801; OMIM: NA; Uniprot ID:PPR3F_HUMAN; ENSEMBL ID: ENSG00000049769; HGNC ID: 14944 |
| 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 | 0 | 1 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000162 | X | Xp11.23-p11.22 | 48317346 | 52833945 | 4516599 | gain | external link | Marshall, 2008 |
| AutCNV0004400 | X | Xp11.22-p11.23 | 48188656 | 52700241 | 4511585 | gain | external link | Sanders, 2011 |
| AutCNV0003118 | X | Xp11.22-p11.23 | 48286850 | 52802958 | 4516108 | gain | external link | Chung, 2011 |
| AutCNV0000714 | X | Xp11.22-p11.23 | 47415056 | 54683275 | 7268219 | gain | external link | Edens, 2011 |
| AutCNV0000713 | X | Xp11.2-p22.33 | 60000 | 56583275 | 56523275 | gain | external link | Edens, 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 |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| X | 49142473 | G | A | c.1321G>A | p.Glu441Lys | neutral | 0.0823 | Nava C, 2012 |
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! | |||||||