AutismKB 2.0

Variant Details for IL1RAPL1


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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 LinksEntrez ID:11141; OMIM: 300206; Uniprot ID:IRPL1_HUMAN; ENSEMBL ID: ENSG00000169306; HGNC ID: 5996
Relate to Another Database: SFARIGene; denovo-db
Variant Statistic Top

Click 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