Variant Details for PTPN20B
Basic Information Top
| Gene Symbol: | PTPN20B ( DKFZp566K0524,DKFZp781P23155,bA42B19.1 ) |
|---|---|
| Gene Full Name: | protein tyrosine phosphatase, non-receptor type 20B |
| Band: | 10q11.22 |
| Quick Links | Entrez ID:26095; OMIM: 610631; Uniprot ID:PTN20_HUMAN; ENSEMBL ID: ENSG00000183675; HGNC ID: |
| 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 | 7 | 0 | 0 | 0 | 0 | 2 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000219 | 10 | 10q11.22-11.23 | 46269073 | 51450788 | 5181715 | gain | external link | Christian, 2008 |
| AutCNV0000420 | 10 | 10q11.21-11.22 | 46604460 | 47359747 | 755287 | loss | external link | Gregory, 2009 |
| AutCNV0000419 | 10 | 10q11.21-11.22 | 46550732 | 48331399 | 1780667 | gain | external link | Gregory, 2009 |
| AutCNV0000418 | 10 | 10q11.21-11.22 | 46498042 | 49246405 | 2748363 | gain | external link | Gregory, 2009 |
| AutCNV0000417 | 10 | 10q11.21-11.22 | 46498042 | 47792476 | 1294434 | gain | external link | Gregory, 2009 |
| AutCNV0000416 | 10 | 10q11.21-11.22 | 46498041 | 47103815 | 605774 | gain | external link | Gregory, 2009 |
| AutCNV0000415 | 10 | 10q11.21-11.22 | 46029208 | 48228375 | 2199167 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000132 | 10p11.23-q11.21 | 10 | D10S1426/D10S1669 | - | - | 0.00421 | Lauritsen, 2006 |
| AutLD0000112 | 10p11.23-q11.23 | 10 | - | - | 1.89 | - | Spence, 2006 |