Variant Details for AHR
Basic Information Top
| Gene Symbol: | AHR ( bHLHe76 ) |
|---|---|
| Gene Full Name: | aryl hydrocarbon receptor |
| Band: | 7p21.1 |
| Quick Links | Entrez ID:196; OMIM: 600253; Uniprot ID:AHR_HUMAN; ENSEMBL ID: ENSG00000106546; HGNC ID: 348 |
| 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 | 7 | 0 | 0 | 0 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004626 | 11 | 11q21 | 96681832 | 96690474 | 8642 | gain | external link | Davis, 2008 |
| AutCNV0000213 | 7 | 7p21.1 | 16887765 | 17487841 | 600076 | gain | external link | Christian, 2008 |
| AutCNV0000504 | 7 | 7p21.1 | 16210305 | 17494426 | 1284121 | gain | external link | Gregory, 2009 |
| AutCNV0000698 | 7 | 7p21.1 | 15233475 | 19533475 | 4300000 | loss | external link | Berkel, 2010 |
| AutCNV0003929 | 7 | 7p21.1 | 16837506 | 17750105 | 912599 | gain | external link | Levy, 2011 |
| AutCNV0003602 | 7 | 7p21.1 | 17065909 | 17442679 | 376770 | gain | external link | Gai, 2011 |
| AutCNV0003601 | 7 | 7p21.1 | 16915528 | 17414784 | 499256 | 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 |
|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||