Variant Details for TGM3
Basic Information Top
| Gene Symbol: | TGM3 ( MGC126249,MGC126250,TGE ) |
|---|---|
| Gene Full Name: | transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) |
| Band: | 20p13 |
| Quick Links | Entrez ID:7053; OMIM: 600238; Uniprot ID:TGM3_HUMAN; ENSEMBL ID: ENSG00000125780; HGNC ID: 11779 |
| 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 | 2 | 2 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002983 | 20 | 20p13 | 1813373 | 2552984 | 739611 | gain | external link | Pinto, 2010 |
| AutCNV0003759 | 20 | 20p13 | 2223481 | 2703692 | 480211 | gain | external link | Gai, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 20 | 2291665 | G | A | c.430G>A | p.Val144Ile | Sanger sequencing | deleterious | 0.993 | O'Roak BJ, 2011 |
| 20 | 2321207 | T | C | PCR or Sanger sequencing | neutral | 0.1609 | Iossifov I, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||