Variant Details for EPHA1
Basic Information Top
| Gene Symbol: | EPHA1 ( EPH,EPHT,EPHT1,MGC163163 ) |
|---|---|
| Gene Full Name: | EPH receptor A1 |
| Band: | 7q34-q35 |
| Quick Links | Entrez ID:2041; OMIM: 179610; Uniprot ID:EPHA1_HUMAN; ENSEMBL ID: ENSG00000146904; HGNC ID: 3385 |
| 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 | 0 | 0 | 1 | 0 | 2 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000513 | 7 | 7q34-35 | 142921940 | 143559549 | 637609 | gain | external link | Gregory, 2009 |
| AutCNV0000515 | 7 | 7q34-35 | 143055622 | 144267119 | 1211497 | gain | external link | Gregory, 2009 |
| AutCNV0000514 | 7 | 7q34-35 | 143055622 | 143559549 | 503927 | loss | external link | Gregory, 2009 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 143095153 | C | T | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000020 | 7q34 | 7 | D7S684 | 2.26 | - | - | Bailey, 1998 |
| AutLD0000003 | 7q35 | 7 | D7S2195 | 1.65 | - | - | McCauley, 2005 |