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Relevance to Autism

Two de novo loss-of-function (LoF) variant and a potentially damaging de novo missense variant in the TBCEL gene have been identified in ASD probands from the Simons Simplex Collection and the SPARK cohort (Satterstrom et al., 2020; Zhou et al., 2022). Transmission and de novo association (TADA) analysis of whole-exome and whole-genome sequencing data from the Autism Sequencing Consortium, the Simons Simplex Collection, the MSSNG cohort, and the SPARK cohort in Trost et al., 2022 identified TBCEL as an ASD-associated gene with a false discovery rate (FDR) < 0.1.

Molecular Function

Predicted to enable alpha-tubulin binding activity. Predicted to be involved in microtubule cytoskeleton organization; post-chaperonin tubulin folding pathway; and tubulin complex assembly.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Recent Recommendation
Genomic architecture of autism from comprehensive whole-genome sequence annotation
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1371R001 
 splice_site_variant 
 c.712+1G>T 
  
 De novo 
  
 Simplex 
 GEN1371R002 
 stop_gained 
 c.688C>T 
 p.Arg230Ter 
 De novo 
  
  
 GEN1371R003 
 missense_variant 
 c.689G>T 
 p.Arg230Leu 
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Duplication
 1
 
11
Duplication
 1
 
11
Deletion
 9
 

No Animal Model Data Available

 

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