Variant Details for FAT3
Basic Information Top
| Gene Symbol: | FAT3 ( CDHF15,CDHR10,KIAA1989 ) |
|---|---|
| Gene Full Name: | FAT tumor suppressor homolog 3 (Drosophila) |
| Band: | 11q14.3 |
| Quick Links | Entrez ID:120114; OMIM: 612483; Uniprot ID:FAT3_HUMAN; ENSEMBL ID: ENSG00000165323; HGNC ID: 23112 |
| 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 | 0 | 6 | 0 | 1 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 | 92600180 | G | A | c.11932G>A | p.Val3978Met | Sanger sequencing | deleterious | 0.5186 | Jiang YH, 2013 |
| 11 | 92258103 | A | G | Sanger sequencing | deleterious | 0.8015 | De Rubeis S, 2014 | ||
| 11 | 92087350 | A | C | PCR or Sanger sequencing | neutral | 0.0931 | Iossifov I, 2014 | ||
| 11 | 92533228 | G | A | PCR or Sanger sequencing | deleterious | 0.9829 | Iossifov I, 2014 | ||
| 11 | 92600180 | G | A | Sanger sequencing | deleterious | 0.5186 | Yuen RK, 2016 | ||
| 11 | 92600180 | c.G11932A | deleterious | 0.5186 | Jiang YH, 2013 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 91579801 | A | T | Doan RN, 2016 |
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! | |||||||