Variant Details for TGM1
Basic Information Top
| Gene Symbol: | TGM1 ( ICR2,KTG,LI,LI1,TGASE,TGK ) |
|---|---|
| Gene Full Name: | transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) |
| Band: | 14q12 |
| Quick Links | Entrez ID:7051; OMIM: 190195; Uniprot ID:TGM1_HUMAN; ENSEMBL ID: ENSG00000092295; HGNC ID: 11777 |
| 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 | 0 | 3 | 0 | 1 | 0 | 3 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 14 | 24724606 | G | A | Sanger sequencing | deleterious | 0.955 | De Rubeis S, 2014 | ||
| 14 | 24731032 | C | CG | Sanger sequencing | De Rubeis S, 2014 | ||||
| 14 | 24724606 | G | A | c.1609CGG>TGG | p.537R>W | deleterious | 0.955 | Fromer M, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 14 | 24724663 | C | T | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000025 | 14q12 | 14 | D14S80 | 2.32 | - | - | Bailey, 1998 |
| AutLD0000043 | 14q12 | 14 | D14S297 | 1.6 | - | - | Auranen, 2002 |
| AutLD0000103 | 14q12 | 14 | rs2877739 | 2.82 | - | - | Ma, 2007 |