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Relevance to Autism

Genetic association has been found between the IL1RAPL2 gene and males with ASD in the HIHG/CHGR, AGRE and ACC cohorts (Chung et al., 2011).

Molecular Function

The protein encoded by this gene is a member of the interleukin 1 receptor family. This protein is similar to the interleukin 1 accessory proteins, and is most closely related to interleukin 1 receptor accessory protein-like 1 (IL1RAPL1). This gene and IL1RAPL1 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN302R001 
 copy_number_gain 
  
  
 Unknown 
  
 Unknown 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN302C001 
 intron_variant 
 rs9887672 
 c.1193-3016C>T 
 T/C 
 HIHG/CHGR, AGRE, ACC 
 Discovery 
 GEN302C002 
 intron_variant 
 rs10218388 
 c.1049-4004T>C 
  
 HIHG/CHGR, AGRE, ACC 
 Discovery 
 GEN302C003 
 intron_variant 
 rs5962575 
 c.903-3035T>C 
 C/T 
 HIHG/CHGR, AGRE, ACC 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 2
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 13
 
X
Deletion-Duplication
 13
 

No Animal Model Data Available

 

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