Variant Details for TJP2
Basic Information Top
| Gene Symbol: | TJP2 ( MGC26306,X104,ZO2 ) |
|---|---|
| Gene Full Name: | tight junction protein 2 (zona occludens 2) |
| Band: | 9q21.11 |
| Quick Links | Entrez ID:9414; OMIM: 607709; Uniprot ID:ZO2_HUMAN; ENSEMBL ID: ENSG00000119139; HGNC ID: 11828 |
| 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 | 1 | 0 | 1 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001950 | 9 | 9q21.11 | 71813571 | 71865932 | 52361 | gain | external link | Pinto, 2010 |
| AutCNV0000731 | 9 | 9q13-q21.31 | 69139257 | 79811537 | 10672280 | loss | external link | Bremer, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 71849443 | T | C | c.1772?T>C | p.Leu591Ser | Sanger sequencing | neutral | 0.4182 | Li J, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 71863039 | G | A | G958S | 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! | |||||||