Variant Details for MTUS1
Basic Information Top
| Gene Symbol: | MTUS1 ( ATBP,ATIP,DKFZp586D1519,DKFZp686F20243,FLJ14295,KIAA1288,MP44,MTSG1 ) |
|---|---|
| Gene Full Name: | microtubule associated tumor suppressor 1 |
| Band: | 8p22 |
| Quick Links | Entrez ID:57509; OMIM: 609589; Uniprot ID:MTUS1_HUMAN; ENSEMBL ID: ENSG00000129422; HGNC ID: 29789 |
| 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 | 1 | 0 | 2 | 0 | 1 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000264 | 8 | 8p21-23 | 10000 | 29644081 | 29634081 | gain | external link | Papanikolaou, 2006 |
| AutCNV0000680 | 8 | 8p21.2-p23.1 | 12241093 | 26707917 | 14466824 | gain | external link | Ozgen, 2009 |
| AutCNV0001901 | 8 | 8p22 | 17614343 | 17710100 | 95757 | gain | external link | Pinto, 2010 |
| AutCNV0000704 | 8 | 8p22 | 12655629 | 19055720 | 6400091 | loss | external link | Berkel, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 17565338 | A | C | Sequenom | Michaelson JJ, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 17513464 | G | A | Y | deleterious | 0.9017 | Nebel RA, 2015 | ||
| 8 | 17612686 | A | C | Y | Cukier HN, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000032 | 8p22 | 8 | D8S261 | 1.12 | - | - | Monaco, 2001 |