Variant Details for PTPRT
Basic Information Top
| Gene Symbol: | PTPRT ( KIAA0283,RPTPrho ) |
|---|---|
| Gene Full Name: | protein tyrosine phosphatase, receptor type, T |
| Band: | 20q12-q13.11 |
| Quick Links | Entrez ID:11122; OMIM: 608712; Uniprot ID:PTPRT_HUMAN; ENSEMBL ID: ENSG00000196090; HGNC ID: 9682 |
| 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 | 15 | 2 | 0 | 0 | 0 | 1 | 18 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000242 | 20 | 20q12 | 41602845 | 41867107 | 264262 | gain | external link | Christian, 2008 |
| AutCNV0002194 | 20 | 20q12 | 41182311 | 41243236 | 60925 | loss | external link | Pinto, 2010 |
| AutCNV0002193 | 20 | 20q12 | 41182311 | 41243236 | 60925 | loss | external link | Pinto, 2010 |
| AutCNV0002192 | 20 | 20q12 | 41182311 | 41243236 | 60925 | loss | external link | Pinto, 2010 |
| AutCNV0002191 | 20 | 20q12 | 41182311 | 41243236 | 60925 | loss | external link | Pinto, 2010 |
| AutCNV0002190 | 20 | 20q12 | 41141073 | 41184337 | 43264 | loss | external link | Pinto, 2010 |
| AutCNV0001365 | 20 | 20q12 | 41207365 | 41243236 | 35871 | loss | external link | Pinto, 2010 |
| AutCNV0002991 | 20 | 20q12 | 41176570 | 41243236 | 66666 | loss | external link | Pinto, 2010 |
| AutCNV0004380 | 20 | 20q12 | 41188318 | 41286043 | 97725 | loss | external link | Sanders, 2011 |
| AutCNV0004379 | 20 | 20q12 | 40919935 | 41097689 | 177754 | loss | external link | Sanders, 2011 |
| AutCNV0003769 | 20 | 20q12-13.11 | 41598995 | 41814164 | 215169 | gain | external link | Gai, 2011 |
| AutCNV0003768 | 20 | 20q12 | 41157707 | 41240700 | 82993 | gain | external link | Gai, 2011 |
| AutCNV0003767 | 20 | 20q12 | 41157707 | 41230763 | 73056 | gain | external link | Gai, 2011 |
| AutCNV0003766 | 20 | 20q12 | 41157707 | 41228738 | 71031 | gain | external link | Gai, 2011 |
| AutCNV0003765 | 20 | 20q12 | 41008738 | 41045810 | 37072 | loss | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 20 | 42082225 | C | T | Sanger sequencing | Yuen RK, 2016 | ||||
| 20 | 41385165 | G | A | Sanger sequencing | deleterious | 0.9841 | Yuen RK, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000147 | 20q11.21-13.12 | 20 | - | - | 5.56 | - | Allen-Brady, 2008 |