Variant Details for PTPN11
Basic Information Top
| Gene Symbol: | PTPN11 ( BPTP3,CFC,MGC14433,NS1,PTP-1D,PTP2C,SH-PTP2,SH-PTP3,SHP2 ) |
|---|---|
| Gene Full Name: | protein tyrosine phosphatase, non-receptor type 11 |
| Band: | 12q24.13 |
| Quick Links | Entrez ID:5781; OMIM: 176876; Uniprot ID:PTN11_HUMAN; ENSEMBL ID: ENSG00000179295; HGNC ID: 9644 |
| 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 | 3 | 0 | 1 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000102 | 12 | 12q12-24.33 | 46092533 | 132022120 | 85929587 | gain | external link | Szatmari, 2007 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 112926270 | C | T | c.1403C>T | p.Thr468Met | Not_tested | deleterious | 0.9864 | Takata A, 2018 |
| 0 | p.Gly503 | Geisheker MR, 2017 | |||||||
| 12 | 112926887 | G | A | deleterious | 0.9864 | Deciphering Developmental , 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 |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 112926888 | G | A | Y | deleterious | 0.9993 | Turner TN, 2017 |
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! | |||||||