Variant Details for TCF4
Basic Information Top
| Gene Symbol: | TCF4 ( E2-2,ITF2,MGC149723,MGC149724,PTHS,SEF2,SEF2-1,SEF2-1A,SEF2-1B,bHLHb19 ) |
|---|---|
| Gene Full Name: | transcription factor 4 |
| Band: | 18q21.2 |
| Quick Links | Entrez ID:6925; OMIM: 602272; Uniprot ID:ITF2_HUMAN; ENSEMBL ID: ENSG00000196628; HGNC ID: 11634 |
| 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 | 7 | 0 | 0 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0005638 | 18 | 18 | Krumm N, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 18 | 52928697 | C | Y | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 18 | 52895538 | AC | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 18 | 52896077 | A | c.1489+1G>T | Stessman HA, 2017 | |||||
| 18 | 52896231 | G | A | c.1726C>T | Stessman HA, 2017 | ||||
| 18 | 53017591 | C | c.158C>G | p.Ser53Ter | Stessman HA, 2017 | ||||
| 18 | 53017621 | CTTTG | c.119_127delCAAAGAAAGinsCAAAG | p.Lys42PhefsTer61 | Stessman HA, 2017 | ||||
| 18 | 52889987 | C | T | Sanger and Sequenom | Michaelson JJ, 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||