Variant Details for FAT1
Basic Information Top
| Gene Symbol: | FAT1 ( CDHF7,CDHR8,FAT,ME5,hFat1 ) |
|---|---|
| Gene Full Name: | FAT tumor suppressor homolog 1 (Drosophila) |
| Band: | 4q35.2 |
| Quick Links | Entrez ID:2195; OMIM: 600976; Uniprot ID:FAT1_HUMAN; ENSEMBL ID: ENSG00000083857; HGNC ID: 3595 |
| 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 | 4 | 6 | 0 | 3 | 0 | 0 | 13 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000061 | 4 | 4q35.1-35.2 | 185433851 | 188934851 | 3501000 | gain | external link | Szatmari, 2007 |
| AutCNV0000060 | 4 | 4q34.3-35.2 | 181840851 | 187856851 | 6016000 | gain | external link | Szatmari, 2007 |
| AutCNV0002519 | 4 | 4q35.2 | 187539323 | 187848075 | 308752 | gain | external link | Pinto, 2010 |
| AutCNV0002517 | 4 | 4q35.2 | 187257004 | 187534375 | 277371 | gain | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 187524608 | T | C | c.11072A>G | p.His3691Arg | Sanger sequencing | neutral | 0.1151 | Neale BM, 2012 |
| 4 | 187538324 | T | G | c.11072A>G | p.His3691Arg | Sanger sequencing | neutral | 0.203 | Neale BM, 2012 |
| 4 | 187524608 | T | C | Sanger sequencing | neutral | 0.1151 | De Rubeis S, 2014 | ||
| 4 | 187538324 | T | G | Sanger sequencing | neutral | 0.203 | De Rubeis S, 2014 | ||
| 4 | 187517848 | G | A | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 4 | 187549328 | A | T | PCR or Sanger sequencing | deleterious | 0.6926 | Iossifov I, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 187557908 | C | T | Y | Cukier HN, 2014 | ||||
| 4 | 187549364 | G | A | Y | Cukier HN, 2014 | ||||
| 4 | 187518041 | T | C | Y | Cukier HN, 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! | |||||||