AutismKB

Evidence Detail 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: Xp22.1-p21.3
Quick LinksEntrez ID:11141; OMIM: 300206; Uniprot ID:IRPL1_HUMAN; ENSEMBL ID: ENSG00000169306
Sequences Top
>IL1RAPL1|11141|nucleotide
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>IL1RAPL1|11141|protein
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Evidence 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.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 3 (4) 23 (4)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMMental retardation, X-linked, 21/34 (300143)
DescriptionNon-syndromic X-linked ID and/or ASD
Reference(s)18005360; 20531469; 18801879;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Piton, 2008_1 human blood lymphocytes and lymphoblastoid cell linesASD genetics: mutation screen
  • Subjects: 142(20 females and 122 males)
  • Normal Controls: -
  • Methods: mutation screen
  • Evidence Details: In a systematic sequencing screen of synaptic genes on the X chromosome, we have identified an autistic female without mental retardation (MR) who carries a de novo frameshift Ile367SerfsX6 mutation in Interleukin-1 Receptor Accessory Protein-Like 1 (IL1RAPL1), a gene implicated in calcium-regulated vesicle release and dendrite differentiation. This seven nucleotide deletion (c.1730delTACTCTT) occurred in exon 9 of the gene and caused a frameshift at Ile367 with a premature stop codon (TGA) 6 codons downstream (p.Ile367SerfsX6)
Piton, 2008_2 rat hippocampal neuron--- protein function
  • Subjects: -
  • Normal Controls: -
  • Methods: cell culture
  • Evidence Details: We showed that the function of the resulting truncated IL1RAPL1 protein is severely altered in hippocampal neurons, by measuring its effect on neurite outgrowth activity.
Piton, 2008_3 human ---- case report
  • Subjects: -
  • Normal Controls: -
  • Methods: Comparative genomic hybridization
  • Evidence Details: We identified by comparative genomic hybridization a large intragenic deletion of exons 3-7 of IL1RAPL1 in three brothers with autism and/or MR. This deletion causes a frameshift and the introduction of a premature stop codon, Ala28GlufsX15, at the very beginning of the protein.
Piton, 2010_1 human bloodASD genetics: mutation screen
  • Subjects: 142( 122 males and 20 females)
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: Exonic variants identified during the the screening of the 157 X-linked synapic genes
Allen-Brady, 2011_1 human bloodASD genotype-phenotype interaction
  • Subjects: 14 familiese for evidence of IL1RAPL1 involvement from AGRE
  • Normal Controls: -
  • Methods: PCR
  • Evidence Details: No evidence of IL1RAPL1 coding mutations in ASD cases specifically selected from the AGRE resource to more likely show dominant linkage inheritance and with suggestive linkage evidence in the chromosome Xp22.11-p21.2 region
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000713 X Xp11.2-p22.33 gain 1 - CNVs Only Present In Patients; Edens, 2011
AutCNV0000768 X Xp21.2-21.3 gain 1 - maternal Pinto, 2010
AutCNV0001376 X Xp21.2 loss 1 - maternal Pinto, 2010
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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