Variant Details for PLEKHA4
Basic Information Top
| Gene Symbol: | PLEKHA4 ( PEPP1 ) |
|---|---|
| Gene Full Name: | pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 |
| Band: | 19q13.33 |
| Quick Links | Entrez ID:57664; OMIM: 607769; Uniprot ID:PKHA4_HUMAN; ENSEMBL ID: ENSG00000105559; HGNC ID: 14339 |
| 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 | 2 | 1 | 0 | 0 | 1 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000648 | 19 | 19q13.33 | 49321884 | 50810714 | 1488830 | loss | external link | Gregory, 2009 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 49351271 | C | T | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 19 | 49355561 | p.Thr450Met | Sanger sequencing | Hashimoto R, 2016 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 19 | 49341342 | C | T | Low-confidence mosaics | Resequencing | Lim ET, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000119 | 19q13.33-13.41 | 19 | - | - | 1.64 | - | Spence, 2006 |