Variant Details for OR1F1
Basic Information Top
| Gene Symbol: | OR1F1 ( OLFMF,OR16-36,OR16-37,OR16-88,OR16-89,OR16-90,OR1F10,OR1F13P,OR1F4,OR1F5,OR1F6,OR1F7,OR1F8,OR1F9,OR3-145,ORL1023 ) |
|---|---|
| Gene Full Name: | olfactory receptor, family 1, subfamily F, member 1 |
| Band: | 16p13.3 |
| Quick Links | Entrez ID:4992; OMIM: 603232; Uniprot ID:OR1F1_HUMAN; ENSEMBL ID: ENSG00000168124; HGNC ID: 8194 |
| 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 | 1 | 1 | 0 | 0 | 0 | 2 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003718 | 16 | 16p13.3 | 3113898 | 3730578 | 616680 | gain | external link | Gai, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 3255016 | C | T | c.770C>T | p.Ala257Val | Not_tested | neutral | 0.3053 | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000091 | 16p13 | 16 | D16S2619 | - | 2.17 | - | Buxbaum, 2004 |
| AutLD0000138 | 16p13.3 | 16 | D16S748 | - | - | 0.00117 | Lauritsen, 2006 |