Evidence Detail for IL1RAPL1

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Basic Information Top
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
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Evidence Statistic Top

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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.
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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