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Relevance to Autism

A recurrent bigenic duplication involving the DYDC1 and DYDC2 genes was identified in seven unrelated ASD cases but not in 580 controls (Girirajan et al., 2013).

Molecular Function

Plays a crucial role during acrosome biogenesis. Expressed in brain and testis.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
Recessive gene disruptions in autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN516R001 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN516R002 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN516R003 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN516R004 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN516R005 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN516R006 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN516R007 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN516R008a 
 stop_gained 
 c.120T>A 
 p.Tyr40Ter 
 Unknown 
  
 Unknown 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
10
Duplication
 1
 
10
Deletion-Duplication
 5
 
10
Deletion-Duplication
 25
 

No Animal Model Data Available





Download DYDC1's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 9915 Q9HBZ2 Y2H
Corominas R , et al. 2014
CCNC cyclin C 892 P24863 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CEP57L1 centrosomal protein 57kDa-like 1 285753 Q8IYX8 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
MOS v-mos Moloney murine sarcoma viral oncogene homolog 4342 P00540 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
NME5 Nucleoside diphosphate kinase homolog 5 8382 P56597 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta) 5296 O00459 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TCHP Trichoplein keratin filament-binding protein 84260 Q9BT92 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TFPT TCF3 (E2A) fusion partner (in childhood Leukemia) 29844 A0A024R4Q5 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TXLNB taxilin beta 167838 Q8N3L3 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
TXNDC9 thioredoxin domain containing 9 10190 O14530 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
USHBP1 Usher syndrome 1C binding protein 1 83878 B4DUE8 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
WAC WW domain containing adaptor with coiled-coil 51322 Q9BTA9 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
ZGPAT zinc finger, CCCH-type with G patch domain 84619 Q8N5A5 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014

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