Variant Details for CD200R1
Basic Information Top
| Gene Symbol: | CD200R1 ( CD200R,HCRTR2,MOX2R,OX2R ) |
|---|---|
| Gene Full Name: | CD200 receptor 1 |
| Band: | 3q13.2 |
| Quick Links | Entrez ID:131450; OMIM: 607546; Uniprot ID:MO2R1_HUMAN; ENSEMBL ID: ENSG00000163606; HGNC ID: 24235 |
| 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 | 2 | 0 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000481 | 3 | 3q13.2 | 112442521 | 113016263 | 573742 | gain | external link | Gregory, 2009 |
| AutCNV0000480 | 3 | 3q13.2 | 112335810 | 113016263 | 680453 | gain | external link | Gregory, 2009 |
| AutCNV0002446 | 3 | 3q13.2 | 112635194 | 112724661 | 89467 | loss | external link | Pinto, 2010 |
| AutCNV0005105 | 7 | 69955482 | 70217682 | 262200 | loss | external link | Fan Y, 2016 |
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 |
|---|---|---|---|---|---|---|
| 3 | 112647684 | G | C | mosaic | PASM | Dou Y, 2017 |
| 3 | 112647684 | G | C | High-confidence mosaics | Resequencing | Lim ET, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000143 | 3q13.2-13.31 | 3 | - | - | 5.58 | - | Allen-Brady, 2008 |