Variant Details for ANTXR2
Basic Information Top
| Gene Symbol: | ANTXR2 ( CMG-2,CMG2,FLJ31074,ISH,JHF,MGC111533,MGC45856 ) |
|---|---|
| Gene Full Name: | anthrax toxin receptor 2 |
| Band: | 4q21.21 |
| Quick Links | Entrez ID:118429; OMIM: 608041; Uniprot ID:ANTR2_HUMAN; ENSEMBL ID: ENSG00000163297; HGNC ID: 21732 |
| 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 | 3 | 0 | 3 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000129 | 4 | 4q21 | 80420236 | 87220236 | 6800000 | loss | external link | Jacquemont, 2006 |
| AutCNV0004449 | 4 | 4q21.21 | 80865131 | 80895083 | 29952 | gain | external link | Nord, 2011 |
| AutCNV0003543 | 4 | 4q21.21 | 80634930 | 80879828 | 244898 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 4 | 80954694 | C | T | mosaic | PASM | Dou Y, 2017 |
| 4 | 80954694 | C | T | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 4 | 80954694 | C | T | mosaic | Sanger Sequencing and Pyrosequencing | Freed D, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||