Variant Details for MYO1E
Basic Information Top
| Gene Symbol: | MYO1E ( HuncM-IC,MGC104638,MYO1C ) |
|---|---|
| Gene Full Name: | myosin IE |
| Band: | 15q22.2 |
| Quick Links | Entrez ID:4643; OMIM: 601479; Uniprot ID:MYO1E_HUMAN; ENSEMBL ID: ENSG00000157483; HGNC ID: 7599 |
| 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 | 5 | 3 | 0 | 1 | 0 | 1 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000291 | 15 | 15q22-23 | 58012708 | 72612946 | 14600238 | loss | external link | Smith, 2000 |
| AutCNV0000274 | 15 | 15q22 | 58012708 | 67512946 | 9500238 | loss | external link | Wassink, 2001 |
| AutCNV0000110 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0000028 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0000230 | 15 | 15q21.3 | 58859048 | 60086155 | 1227107 | gain | external link | Christian, 2008 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 15 | 59430484 | G | A | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 15 | 59506918 | G | C | strong | neutral | 0.4755 | Iossifov I, 2014 | ||
| 15 | 59487682 | G | A | deleterious | 0.5 | Chen R, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 15 | 59516914 | C | T | Y | deleterious | 0.8995 | Turner TN, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000158 | 15q21.1-q22.2 | 15 | rs383902 | 1.49 | - | - | Allen-Brady, 2010 |