Variant Details for OR1E1
Basic Information Top
| Gene Symbol: | OR1E1 ( HGM071,OR13-66,OR17-2,OR17-32,OR1E5,OR1E6,OR1E8P,OR1E9P,OST547 ) |
|---|---|
| Gene Full Name: | olfactory receptor, family 1, subfamily E, member 1 |
| Band: | 17p13.3 |
| Quick Links | Entrez ID:8387; OMIM: NA; Uniprot ID:OR1E1_HUMAN; ENSEMBL ID: ENSG00000180016; HGNC ID: 8189 |
| 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 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000373 | 17 | 17p13.3 | 0 | 3653251 | 3653251 | external link | Zwaag, 2009 | |
| AutCNV0002125 | 17 | 17p13.3 | 2906098 | 3589467 | 683369 | gain | external link | Pinto, 2010 |
| AutCNV0004681 | 17 | 17p13.3;p13.2 | 2455643 | 3449869 | 994226 | gain | external link | Gazzellone MJ, 2014 |
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 | 3301128 | G | A | c.577C>T | p.Arg193* | Sanger sequencing | Takata A, 2018 |
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! | |||||||