Variant Details for DIS3
Basic Information Top
| Gene Symbol: | DIS3 ( DKFZp667L1817,EXOSC11,FLJ10484,KIAA1008,MGC33035,RP11-342J4.3,RRP44,bA555G22.1,dis3p ) |
|---|---|
| Gene Full Name: | DIS3 mitotic control homolog (S. cerevisiae) |
| Band: | 13q21.33 |
| Quick Links | Entrez ID:22894; OMIM: 607533; Uniprot ID:RRP44_HUMAN; ENSEMBL ID: ENSG00000083520; HGNC ID: 20604 |
| 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 | 2 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000266 | 13 | 13q14-22 | 40602000 | 78901999 | 38299999 | loss | external link | Steele, 2001 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 13 | 73346895 | T | C | Sanger sequencing | deleterious | 0.5246 | De Rubeis S, 2014 | ||
| 13 | 73344237 | G | A | Sanger and 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000126 | 13q22.1 | 13 | D13S800 | 3 | - | - | Barrett, 1999 |