Variant Details for TJP3
Basic Information Top
| Gene Symbol: | TJP3 ( MGC119546,ZO-3,ZO3 ) |
|---|---|
| Gene Full Name: | tight junction protein 3 (zona occludens 3) |
| Band: | 19p13.3 |
| Quick Links | Entrez ID:27134; OMIM: 612689; Uniprot ID:ZO3_HUMAN; ENSEMBL ID: ENSG00000105289; HGNC ID: 11829 |
| 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 | 3 | 1 | 0 | 0 | 0 | 1 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000645 | 19 | 19p13.3 | 2677243 | 4898791 | 2221548 | loss | external link | Gregory, 2009 |
| AutCNV0004944 | 1 | 102876392 | 102929513 | 53121 | gain | external link | Brand H, 2015 | |
| AutCNV0004899 | 3 | 3p26.3 | loss | Hu J, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 3743971 | C | T | c.1977C>T | p.Pro659Pro | Sanger sequencing | Sanders SJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000068 | 19p13.3 | 19 | D19S209 | - | - | 0.003 | Schellenberg, 2006 |