Variant Details for OR4K2
Basic Information Top
| Gene Symbol: | OR4K2 ( OR14-15 ) |
|---|---|
| Gene Full Name: | olfactory receptor, family 4, subfamily K, member 2 |
| Band: | 14q11.2 |
| Quick Links | Entrez ID:390431; OMIM: NA; Uniprot ID:OR4K2_HUMAN; ENSEMBL ID: ENSG00000165762; HGNC ID: 14728 |
| 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 | 0 | 1 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000575 | 14 | 14q11.1-11.2 | 19838252 | 20448211 | 609959 | gain | external link | Gregory, 2009 |
| AutCNV0000572 | 14 | 14q11.1-11.2 | 19662531 | 20448211 | 785680 | gain | external link | Gregory, 2009 |
| AutCNV0000571 | 14 | 14q11.1-11.2 | 19662531 | 20660181 | 997650 | loss | external link | Gregory, 2009 |
| AutCNV0000570 | 14 | 14q11.2 | 19662531 | 20448211 | 785680 | loss | external link | Gregory, 2009 |
| AutCNV0004658 | 14 | 19435611 | 20420849 | 985238 | loss | external link | Laplana M, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 14 | 20344642 | T | G | Parental Mosaic Transmitted | 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||