Variant Details for MSR1
Basic Information Top
| Gene Symbol: | MSR1 ( CD204,SCARA1,SR-A,phSR1,phSR2 ) |
|---|---|
| Gene Full Name: | macrophage scavenger receptor 1 |
| Band: | 8p22 |
| Quick Links | Entrez ID:4481; OMIM: 153622; Uniprot ID:MSRE_HUMAN; ENSEMBL ID: ENSG00000038945; HGNC ID: 7376 |
| 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 | 8 | 0 | 0 | 2 | 0 | 1 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000264 | 8 | 8p21-23 | 10000 | 29644081 | 29634081 | gain | external link | Papanikolaou, 2006 |
| AutCNV0000680 | 8 | 8p21.2-p23.1 | 12241093 | 26707917 | 14466824 | gain | external link | Ozgen, 2009 |
| AutCNV0002688 | 8 | 8p22 | 15948235 | 16021468 | 73233 | loss | external link | Pinto, 2010 |
| AutCNV0001899 | 8 | 8p22 | 15948235 | 16021468 | 73233 | loss | external link | Pinto, 2010 |
| AutCNV0001898 | 8 | 8p22 | 15948235 | 16021468 | 73233 | loss | external link | Pinto, 2010 |
| AutCNV0001897 | 8 | 8p22 | 15948235 | 16021468 | 73233 | loss | external link | Pinto, 2010 |
| AutCNV0001896 | 8 | 8p22 | 15948235 | 16021468 | 73233 | loss | external link | Pinto, 2010 |
| AutCNV0000704 | 8 | 8p22 | 12655629 | 19055720 | 6400091 | loss | external link | Berkel, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 15669447 | G | C | Doan RN, 2016 | |||||
| 8 | 15669488 | T | G | Doan RN, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000032 | 8p22 | 8 | D8S261 | 1.12 | - | - | Monaco, 2001 |