Variant Details for TEKT3
Basic Information Top
| Gene Symbol: | TEKT3 ( FLJ32828 ) |
|---|---|
| Gene Full Name: | tektin 3 |
| Band: | 17p12 |
| Quick Links | Entrez ID:64518; OMIM: 612683; Uniprot ID:TEKT3_HUMAN; ENSEMBL ID: ENSG00000125409; HGNC ID: 14293 |
| 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 | 5 | 2 | 0 | 0 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000125 | 17 | 17p12 | 14363675 | 15296975 | 933300 | gain | external link | Szatmari, 2007 |
| AutCNV0000238 | 17 | 17p12 | 14139844 | 15282725 | 1142881 | loss | external link | Christian, 2008 |
| AutCNV0002924 | 17 | 17p12 | 14099742 | 15483081 | 1383339 | loss | external link | Pinto, 2010 |
| AutCNV0003734 | 17 | 17p12 | 14099742 | 15471179 | 1371437 | loss | external link | Gai, 2011 |
| AutCNV0003733 | 17 | 17p12 | 14099742 | 15449627 | 1349885 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 15207450 | C | G | Sanger sequencing | deleterious | 0.7957 | De Rubeis S, 2014 | ||
| 17 | 15212030 | G | A | Sanger sequencing | deleterious | 0.9836 | De Rubeis S, 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! | |||||||