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Relevance to Autism

Rare variants in the ODF3L2 gene have been identified with autism (Bucan et al., 2009).

Molecular Function

Unknown

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN183R001 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R002 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R003 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R004 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R005 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R006 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R007 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R008 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R009 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R010 
 copy_number_loss 
  
  
  
  
 Multiplex 
 GEN183R011 
 copy_number_loss 
  
  
  
  
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 32
 
19
Deletion-Duplication
 9
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
EGFR epidermal growth factor receptor 1956 P00533 TIPY/MS; IP/WB
Tong J , et al. 2008
FBXW5 F-box and WD repeat domain containing 5 54661 Q969U6 IP; LC-MS/MS
Huttlin EL , et al. 2015
GPHN gephyrin 10243 Q9NQX3 IP; LC-MS/MS
Huttlin EL , et al. 2015
KCTD10 potassium channel tetramerisation domain containing 10 83892 Q9H3F6 IP; LC-MS/MS
Huttlin EL , et al. 2015
NMT1 N-myristoyltransferase 1 4836 P30419 IP; LC-MS/MS
Huttlin EL , et al. 2015
NMT2 N-myristoyltransferase 2 9397 O60551 IP; LC-MS/MS
Huttlin EL , et al. 2015

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