Variant Details for PTPRD
Basic Information Top
| Gene Symbol: | PTPRD ( HPTP,HPTPD,HPTPDELTA,MGC119750,MGC119751,MGC119752,MGC119753,PTPD,RPTPDELTA ) |
|---|---|
| Gene Full Name: | protein tyrosine phosphatase, receptor type, D |
| Band: | 9p24.1-p23 |
| Quick Links | Entrez ID:5789; OMIM: 601598; Uniprot ID:PTPRD_HUMAN; ENSEMBL ID: ENSG00000153707; HGNC ID: 9668 |
| 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 | 18 | 2 | 1 | 3 | 0 | 0 | 24 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000084 | 9 | 9p13.3-24.3 | 249391 | 33926500 | 33677109 | gain | external link | Szatmari, 2007 |
| AutCNV0001095 | 9 | 9p23 | 9995938 | 10030458 | 34520 | loss | external link | Pinto, 2010 |
| AutCNV0000821 | 9 | 9p23 | 9409606 | 9641169 | 231563 | loss | external link | Pinto, 2010 |
| AutCNV0002722 | 9 | 9p23 | 9831068 | 9945648 | 114580 | loss | external link | Pinto, 2010 |
| AutCNV0002721 | 9 | 9p23 | 9770741 | 9860872 | 90131 | loss | external link | Pinto, 2010 |
| AutCNV0002720 | 9 | 9p23 | 9708107 | 9756868 | 48761 | loss | external link | Pinto, 2010 |
| AutCNV0001274 | 9 | 9p23 | 9525707 | 9609283 | 83576 | loss | external link | Pinto, 2010 |
| AutCNV0003632 | 9 | 9p23 | 9893002 | 9915186 | 22184 | loss | external link | Gai, 2011 |
| AutCNV0003631 | 9 | 9p23 | 9893002 | 9913373 | 20371 | loss | external link | Gai, 2011 |
| AutCNV0003297 | 9 | 9p23 | 10145099 | 10299084 | 153985 | loss | external link | Gai, 2011 |
| AutCNV0003296 | 9 | 9p23 | 10144584 | 10299084 | 154500 | loss | external link | Gai, 2011 |
| AutCNV0003295 | 9 | 9p23 | 9787587 | 9819028 | 31441 | loss | external link | Gai, 2011 |
| AutCNV0003294 | 9 | 9p23 | 9750139 | 10119157 | 369018 | loss | external link | Gai, 2011 |
| AutCNV0004527 | 9 | 9p23 | 9562321 | 9698104 | 135783 | loss | external link | Nord, 2011 |
| AutCNV0004283 | 9 | 9p23 | 9409606 | 9641169 | 231563 | loss | external link | Sanders, 2011 |
| AutCNV0003950 | 9 | 9p23 | 9572406 | 9608720 | 36314 | loss | external link | Levy, 2011 |
| AutCNV0003633 | 9 | 9p23 | 9924724 | 9957866 | 33142 | loss | external link | Gai, 2011 |
| AutCNV0005697 | 9 | loss | Yuen RK, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 9605253 | A | G | Sanger and Sequenom | Michaelson JJ, 2012 | ||||
| 9 | 9674564 | C | T | Sanger and Sequenom | Michaelson JJ, 2012 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 9 | 8507360 | G | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 8484233 | C | T | T1100M | Toma C, 2014 | ||||
| 9 | 8896292 | A | T | Doan RN, 2016 | |||||
| 9 | 8896293 | T | C | Doan RN, 2016 |
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! | |||||||