Variant Details for TECTA
Basic Information Top
| Gene Symbol: | TECTA ( DFNA12,DFNA8,DFNB21 ) |
|---|---|
| Gene Full Name: | tectorin alpha |
| Band: | 11q23.3 |
| Quick Links | Entrez ID:7007; OMIM: 602574; Uniprot ID:TECTA_HUMAN; ENSEMBL ID: ENSG00000109927; HGNC ID: 11720 |
| 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 | 4 | 1 | 1 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000093 | 11 | 11q23.2-25 | 113996790 | 134897790 | 20901000 | gain | external link | Szatmari, 2007 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 121039453 | G | A | p.Ala1940Thr | Sanger sequencing | deleterious | 0.9648 | Sanders SJ, 2012 | |
| 11 | 120996340 | C | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 11 | 120998556 | G | A | Sanger sequencing | neutral | 0.412 | De Rubeis S, 2014 | ||
| 11 | 121060495 | T | TGGAG | PCR or Sanger sequencing | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 11 | 121039453 | G | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 121028796 | C | T | Q1518* | Toma C, 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||