Variant Details for INPP5K
Basic Information Top
| Gene Symbol: | INPP5K ( PPS,SKIP ) |
|---|---|
| Gene Full Name: | inositol polyphosphate-5-phosphatase K |
| Band: | 17p13.3 |
| Quick Links | Entrez ID:51763; OMIM: 607875; Uniprot ID:INP5K_HUMAN; ENSEMBL ID: ENSG00000132376; HGNC ID: 33882 |
| 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 | 2 | 2 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000373 | 17 | 17p13.3 | 0 | 3653251 | 3653251 | external link | Zwaag, 2009 | |
| AutCNV0000720 | 17 | 17p13.3 | 286554 | 1424953 | 1138399 | gain | external link | Bremer, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 1411432 | C | T | c.415G>A | p.Gly139Ser | Sanger sequencing | neutral | 0.0123 | Jiang YH, 2013 |
| 17 | 1411432 | c.G415A | neutral | 0.0123 | Jiang YH, 2013 |
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! | |||||||