Variant Details for ZYX
Basic Information Top
| Gene Symbol: | ZYX ( ESP-2,HED-2 ) |
|---|---|
| Gene Full Name: | zyxin |
| Band: | 7q34 |
| Quick Links | Entrez ID:7791; OMIM: 602002; Uniprot ID:ZYX_HUMAN; ENSEMBL ID: ENSG00000159840; HGNC ID: 13200 |
| 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 | 1 | 0 | 0 | 1 | 5 |
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 |
|---|---|---|---|---|---|---|
| 7 | 143079777 | G | A | Mosaic | Krupp DR, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000020 | 7q34 | 7 | D7S684 | 2.26 | - | - | Bailey, 1998 |