Variant Details for TBL1XR1
Basic Information Top
| Gene Symbol: | TBL1XR1 ( C21,DC42,FLJ12894,IRA1,TBLR1 ) |
|---|---|
| Gene Full Name: | transducin (beta)-like 1 X-linked receptor 1 |
| Band: | 3q26.32 |
| Quick Links | Entrez ID:79718; OMIM: 608628; Uniprot ID:TBL1R_HUMAN; ENSEMBL ID: ENSG00000177565; HGNC ID: 29529 |
| 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 | 7 | 0 | 0 | 6 | 2 | 16 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002462 | 3 | 3q26.32 | 176765269 | 177085723 | 320454 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 176765107 | A | R | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 3 | 176765107 | A | R | p.Leu282Pro | Sanger sequencing | O'Roak BJ, 2012 | |||
| 3 | 176752047 | * | -A/* | p.Ile397SerfsX19 | Sanger sequencing | O'Roak BJ, 2012 | |||
| 3 | 176750796 | T | c.1379G>A | p.Gly460Asp | Stessman HA, 2017 | ||||
| 3 | 176767858 | A | T | c.629T>A | p.Val210Glu | Y | deleterious | 0.9488 | O'Roak BJ, 2014 |
| 3 | 175269353 | p.Ile397SerfsX19 | O'Roak BJ, 2012 | ||||||
| 3 | 175282413 | A | p.Leu282Pro | O'Roak BJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| chr3 | 176750853 | T | C | p.His441Arg | Laskowski RA, 2016 | ||||
| chr3 | 176755900 | C | A | p.Asp370Tyr | Laskowski RA, 2016 | ||||
| chr3 | 176756165 | T | C | p.Asp328Gly | Laskowski RA, 2016 | ||||
| chr3 | 176750844 | G | C | p.Pro444Arg | Laskowski RA, 2016 | ||||
| chr3 | 176767848 | A | T | p.His213Gln | Laskowski RA, 2016 | ||||
| p.Ile269TyrfsTer8 | Laskowski RA, 2016 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000041 | 3q26.32 | 3 | D3S3037 | 2.88 | - | - | Auranen, 2002 |
| AutLD0000144 | 3q26.31-27.3 | 3 | - | - | 4.85 | - | Allen-Brady, 2008 |