Variant Details for IL1RAPL1
Basic Information Top
| Gene Symbol: | IL1RAPL1 ( IL1R8,IL1RAPL,MRX10,MRX21,MRX34,OPHN4,TIGIRR-2 ) |
|---|---|
| Gene Full Name: | interleukin 1 receptor accessory protein-like 1 |
| Band: | Xp21.3-p21.2 |
| Quick Links | Entrez ID:11141; OMIM: 300206; Uniprot ID:IRPL1_HUMAN; ENSEMBL ID: ENSG00000169306; HGNC ID: 5996 |
| 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 | 0 | 1 | 2 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001376 | X | Xp21.2 | 29536125 | 29648021 | 111896 | loss | external link | Pinto, 2010 |
| AutCNV0000768 | X | Xp21.2-21.3 | 29021638 | 29569045 | 547407 | gain | external link | Pinto, 2010 |
| AutCNV0000713 | X | Xp11.2-p22.33 | 60000 | 56583275 | 56523275 | gain | external link | Edens, 2011 |
| AutCNV0005749 | X | gain | C Yuen RK, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| X | 29973282 | p.P478Q | Y | Butler MG, 2015 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Piton, 2008 | |||||||||
| Allen-Brady, 2011 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||