Variant Details for RBFOX3
Basic Information Top
| Gene Symbol: | RBFOX3 ( FLJ56884,FLJ58356,FOX-3,FOX3,HRNBP3,NEUN ) |
|---|---|
| Gene Full Name: | RNA binding protein, fox-1 homolog (C. elegans) 3 |
| Band: | 17q25.3 |
| Quick Links | Entrez ID:146713; OMIM: NA; Uniprot ID:RFOX3_HUMAN; ENSEMBL ID: ENSG00000167281; HGNC ID: 27097 |
| 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 |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002139 | 17 | 17q25.3 | 77357015 | 77394037 | 37022 | gain | external link | Pinto, 2010 |
| AutCNV0001511 | 17 | 17q25.3 | 77359393 | 77395625 | 36232 | gain | external link | Pinto, 2010 |
| AutCNV0001352 | 17 | 17q25.3 | 77357015 | 77394037 | 37022 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 77385959 | C | A | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000044 | 17q25.3 | 17 | D17S784 | 1.67 | - | - | Auranen, 2002 |