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Relevance to Autism

TP53BP1 was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to three ASD probands in three independent families and its interconnectedness with other ASD candidate genes in protein-protein interaction (PPI) networks in this report. A de novo nonsense variant and a de novo missense variant in this gene had previously been identified in ASD probands from the Autism Sequencing Consortium (De Rubeis et al., 2014; Satterstrom et al., 2020).

Molecular Function

This gene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This protein plays multiple roles in the DNA damage response, including promoting checkpoint signaling following DNA damage, acting as a scaffold for recruitment of DNA damage response proteins to damaged chromatin, and promoting NHEJ pathways by limiting end resection following a double-strand break. These roles are also important during V(D)J recombination, class switch recombination and at unprotected telomeres.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Recent ultra-rare inherited variants implicate new autism candidate risk genes
ASD
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1284R001 
 stop_gained 
 c.72C>A 
 p.Cys24Ter 
 Familial 
  
 Simplex 
 GEN1284R002 
 frameshift_variant 
 c.2783del 
 p.Pro928HisfsTer7 
 Familial 
  
 Simplex 
 GEN1284R003 
 stop_gained 
 c.4966C>T 
 p.Arg1656Ter 
 Familial 
  
 Simplex 
 GEN1284R004 
 missense_variant 
 c.5105G>A 
 p.Gly1702Glu 
 De novo 
 NA 
  
 GEN1284R005 
 stop_gained 
 c.5852G>A 
 p.Trp1951Ter 
 De novo 
 NA 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Deletion-Duplication
 10
 

No Animal Model Data Available

 

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