Variant Details for PTPN13
Basic Information Top
| Gene Symbol: | PTPN13 ( DKFZp686J1497,FAP-1,PNP1,PTP-BAS,PTP-BL,PTP1E,PTPL1,PTPLE ) |
|---|---|
| Gene Full Name: | protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) |
| Band: | 4q21.3 |
| Quick Links | Entrez ID:5783; OMIM: 600267; Uniprot ID:PTN13_HUMAN; ENSEMBL ID: ENSG00000163629; HGNC ID: 9646 |
| 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 | 4 | 0 | 0 | 0 | 1 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000130 | 4 | 4q21-23 | 86426849 | 103726763 | 17299914 | loss | external link | Jacquemont, 2006 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 87705622 | C | G | Sanger sequencing | neutral | 0.1462 | De Rubeis S, 2014 | ||
| 4 | 87684079 | T | C | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 4 | 87696594 | G | A | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 4 | 87705691 | C | A | c.C5525A | p.P1842Q | neutral | 0.0077 | Tammimies K, 2015 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000012 | 4q21.23-22.3 | 4 | D4S2361/D4S2909 | 1.72 | - | - | Yonan, 2003 |