THBS1
Homo sapiens
Gene Name: Thrombospondin 1
Aliases: TSP; THBS; TSP1; TSP-1; THBS-1
Chromosome No: 15
Chromosome Band: 15q14
Genetic Category: Genetic association/rare single gene variant-Rare single gene variant
Aliases: TSP; THBS; TSP1; TSP-1; THBS-1
Chromosome No: 15
Chromosome Band: 15q14
Genetic Category: Genetic association/rare single gene variant-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 4
Evidence score: 3
ASD Reports: 5
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 4
Evidence score: 3
| Associated Disorders: |
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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
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
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
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
