Variant Details for TRIO
Basic Information Top
| Gene Symbol: | TRIO ( ARHGEF23,FLJ42780,tgat ) |
|---|---|
| Gene Full Name: | triple functional domain (PTPRF interacting) |
| Band: | 5p15.2 |
| Quick Links | Entrez ID:7204; OMIM: 601893; Uniprot ID:TRIO_HUMAN; ENSEMBL ID: ENSG00000038382; HGNC ID: 12303 |
| 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 | 4 | 9 | 0 | 0 | 10 | 0 | 23 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000131 | 5 | 5p15.2 | 13223293 | 14523293 | 1300000 | loss | external link | Jacquemont, 2006 |
| AutCNV0000020 | 5 | 5p15.1-15.2 | 9485490 | 15993000 | 6507510 | loss | external link | Szatmari, 2007 |
| AutCNV0005667 | 5 | 5 | Krumm N, 2015 | |||||
| AutCNV0005156 | 22 | 22q11 | Richard AC, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 14394220 | A | T | p.Lys1431Met | Sanger sequencing | deleterious | 0.9999 | Sanders SJ, 2012 | |
| 5 | 14388774 | C | Y | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 5 | 14389434 | AT | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 5 | 14485178 | G | C | Sanger sequencing | deleterious | 0.6699 | De Rubeis S, 2014 | ||
| 5 | 14364820 | G | T | PCR or Sanger sequencing | neutral | 0.2011 | Iossifov I, 2014 | ||
| 5 | 14015350 | molecular inversion probe rese | Turner TN, 2016 | ||||||
| 5 | 14461227 | A | c.5303G>A | Stessman HA, 2017 | |||||
| 5 | 14143965 | C | T | c.131C>T | p.Ala44Val | Not_tested | neutral | 0.1329 | Takata A, 2018 |
| 0 | p.Pro1461 | Geisheker MR, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 14290933 | c.649A>T | p.Arg217* | Y | Ba W, 2016 | ||||
| 5 | 14387728 | c.3752del | p.Asp1251Valfs*11 | Y | Ba W, 2016 | ||||
| 5 | 14390409 | c.4128G>A | p.Trp1376* | Y | Ba W, 2016 | ||||
| 5 | 14366984 | C | A | c.2770C>A | p.Arg924Ser | Y | deleterious | 0.9883 | Ba W, 2016 |
| 5 | 14387688 | T | C | c.3712T>C | p.Tyr1238His | Y | deleterious | 0.9595 | Ba W, 2016 |
| 5 | 14471427 | G | A | c.5764G>A | p.Ala1922Thr | Y | neutral | 0.1857 | Ba W, 2016 |
| 5 | 14471479 | G | A | c.5816G>A | p.Ser1939Asn | Y | deleterious | 0.8432 | Ba W, 2016 |
| 5 | 14482826 | C | G | c.6601C>G | p.Leu2201Val | Y | deleterious | 0.7866 | Ba W, 2016 |
| 5 | 14485261 | G | C | c.6741G>C | p.Glu2247Asp | Y | deleterious | 0.852 | Ba W, 2016 |
| 5 | 14498270 | G | A | c.8120G>A | p.Arg2707Gln | Y | deleterious | 0.5215 | Ba W, 2016 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||