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Relevance to Autism

Sanger sequencing of 313 ASD cases and 350 controls (both of Han Chinese descent) identified five common variants, including one common variant (c.1567A>G; p.T523A) associated with autism, and seven rare variants, two of which (c.2429G>A; p.R810Q, c.3496G>C; p.E1166Q) were absent in controls and dbSNP (Lu et al., 2014). Combined association analysis of THBS1 rare variants (MAF<0.01) in patients and Asian samples in the 1000 Genomes project revealed association between these rare variants and autism (P=0.039).

Molecular Function

Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Common and rare variants of the THBS1 gene associated with the risk for autism.
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN638R001 
 missense_variant 
 c.2429G>A 
 p.Arg810Gln 
 Unknown 
  
 Unknown 
 GEN638R002 
 missense_variant 
 c.3496G>C 
 p.Glu1166Gln 
 Unknown 
  
 Unknown 
 GEN638R003 
 missense_variant 
 c.2876G>A 
 p.Arg959Gln 
 Unknown 
  
 Unknown 
 GEN638R004 
 missense_variant 
 c.3251G>A 
 p.Gly1084Glu 
 Unknown 
  
 Unknown 
 GEN638R005 
 missense_variant 
 c.2749G>T 
 p.Asp917Tyr 
 De novo 
 NA 
 Simplex 
 GEN638R006 
 stop_gained 
 c.2875C>T 
 p.Arg959Ter 
 De novo 
 NA 
 Multiplex 
 GEN638R007 
 stop_gained 
 c.2875C>T 
 p.Arg959Ter 
 De novo 
 NA 
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN638C001 
 missense_variant 
 rs2292305 
 c.1567A>G 
 p.Thr523Ala 
 313 ASD cases and 350 controls from the Han Chinese population 
 Discovery 
 GEN638C002 
 synonymous_variant 
 rs2229364 
 c.1290G>A 
 p.(=) 
 313 ASD cases and 350 controls from the Han Chinese population 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Deletion
 1
 
15
Deletion-Duplication
 22
 
15
Duplication
 1
 

No Animal Model Data Available

 

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