Variant Details for MTNR1A
Basic Information Top
| Gene Symbol: | MTNR1A ( MEL-1A-R,MT1 ) |
|---|---|
| Gene Full Name: | melatonin receptor 1A |
| Band: | 4q35.2 |
| Quick Links | Entrez ID:4543; OMIM: 600665; Uniprot ID:MTR1A_HUMAN; ENSEMBL ID: ENSG00000168412; HGNC ID: 7463 |
| 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 | 4 | 0 | 0 | 0 | 1 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000061 | 4 | 4q35.1-35.2 | 185433851 | 188934851 | 3501000 | gain | external link | Szatmari, 2007 |
| AutCNV0000060 | 4 | 4q34.3-35.2 | 181840851 | 187856851 | 6016000 | gain | external link | Szatmari, 2007 |
| AutCNV0002517 | 4 | 4q35.2 | 187257004 | 187534375 | 277371 | gain | external link | Pinto, 2010 |
| AutCNV0003908 | 4 | 4q35.2 | 187192703 | 187472967 | 280264 | gain | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| Chaste, 2010 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||