Variant Details for HTR7
Basic Information Top
| Gene Symbol: | HTR7 ( 5-HT7 ) |
|---|---|
| Gene Full Name: | 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) |
| Band: | 10q23.31 |
| Quick Links | Entrez ID:3363; OMIM: 182137; Uniprot ID:5HT7R_HUMAN; ENSEMBL ID: ENSG00000148680; HGNC ID: 5302 |
| 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 | 2 | 0 | 0 | 1 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000091 | 10 | 10q23.31-23.32 | 92162420 | 93018020 | 855600 | gain | external link | Szatmari, 2007 |
| AutCNV0000040 | 10 | 10q23.31-23.32 | 92018820 | 93018020 | 999200 | gain | external link | Szatmari, 2007 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 92509055 | G | A | Y | Cukier HN, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000090 | 10q23.31 | 10 | D10S2327 | - | 1.48 | - | Buxbaum, 2004 |