Variant Details for PTPRN2
Basic Information Top
| Gene Symbol: | PTPRN2 ( IA-2beta,IAR,ICAAR,PTPRP ) |
|---|---|
| Gene Full Name: | protein tyrosine phosphatase, receptor type, N polypeptide 2 |
| Band: | 7q36.3 |
| Quick Links | Entrez ID:5799; OMIM: 601698; Uniprot ID:PTPR2_HUMAN; ENSEMBL ID: ENSG00000155093; HGNC ID: 9677 |
| 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 | 3 | 1 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002681 | 7 | 7q36.3 | 157728792 | 157806716 | 77924 | gain | external link | Pinto, 2010 |
| AutCNV0001877 | 7 | 7q36.3 | 157734314 | 157802672 | 68358 | gain | external link | Pinto, 2010 |
| AutCNV0001876 | 7 | 7q36.3 | 157734314 | 157802672 | 68358 | gain | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 157959743 | C | T | neutral | 0.0074 | Chen R, 2017 |
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! | |||||||