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Relevance to Autism

Rare deletions involving the DDX53 gene have been identified in individuals with ASD (Pinto et al., 2010).

Molecular Function

This intronless gene encodes a protein which contains several domains found in members of the DEAD-box helicase protein family. Other members of this protein family participate in ATP-dependent RNA unwinding.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
ASD
ID
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
 GEN332R001 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN332R002 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN332R003 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN332R004 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN332R005 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN332R006 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN332R007 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 3
 
X
Deletion-Duplication
 17
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 2
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
DDX43 Probable ATP-dependent RNA helicase DDX43 55510 Q9NXZ2 IP; LC-MS/MS
Huttlin EL , et al. 2015
DNMT1 DNA (cytosine-5-)-methyltransferase 1 1786 P26358 ChIP
Kim Y , et al. 2010
HDAC2 histone deacetylase 2 3066 Q92769 IP/WB; in vitro deacetylation assay
Kim Y , et al. 2010
TP53 tumor protein p53 7157 P04637 ChIP
Kim Y , et al. 2010
UBC ubiquitin C 7316 P63279 IP/WB
Kim W , et al. 2011

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