Variant Details for EPHA6
Basic Information Top
| Gene Symbol: | EPHA6 ( DKFZp434C1418,EPA6,FLJ35246,PRO57066 ) |
|---|---|
| Gene Full Name: | EPH receptor A6 |
| Band: | 3q11.2 |
| Quick Links | Entrez ID:285220; OMIM: 600066; Uniprot ID:EPHA6_HUMAN; ENSEMBL ID: ENSG00000080224; HGNC ID: 19296 |
| 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 | 2 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001672 | 3 | 3q11.2 | 96971803 | 97025917 | 54114 | loss | external link | Pinto, 2010 |
| AutCNV0001671 | 3 | 3q11.2 | 96971803 | 97025917 | 54114 | loss | external link | Pinto, 2010 |
| AutCNV0002444 | 3 | 3q11.2 | 95991618 | 96721716 | 730098 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 96635896 | G | A | Sequenom | Michaelson JJ, 2012 | ||||
| 3 | 96934280 | G | 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! | |||||||