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Relevance to Autism

Two de novo missense variants that were predicted in silico to be damaging were identified in the CSNK1E gene in ASD probands from the Autism Sequencing Consortium in De Rubeis et al., 2014. TADA-Denovo analysis using a combined dataset of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium, as well as a novel cohort of 262 Japanese ASD trios, in Takata et al., 2018 identified CSNK1E as a gene significantly enriched in damaging de novo mutations in ASD cases (pBH < 0.05). Functional studies in Drosophila (Kloss et al., 1998), Syrian hamsters (Lowrey et al., 2000), and mice (Meng et al., 2008) have demonstrated a role for CSNK1E in circadian rhythms.

Molecular Function

The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Setting clock speed in mammals: the CK1 epsilon tau mutation in mice accelerates circadian pacemakers by selectively destabilizing PERIOD proteins.
Support
Positional syntenic cloning and functional characterization of the mammalian circadian mutation tau.
Support
The Drosophila clock gene double-time encodes a protein closely related to human casein kinase Iepsilon.
Recent Recommendation
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN996R001 
 missense_variant 
 c.739G>A 
 p.Glu247Lys 
 De novo 
  
  
 GEN996R002 
 missense_variant 
 c.406A>T 
 p.Met136Leu 
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 1
 
22
Duplication
 1
 
22
Deletion
 2
 
22
Duplication
 1
 
22
Deletion-Duplication
 24
 
22
Duplication
 1
 

Model Summary

Important functional differences between Csnk1d and Csnk1e.

References

Type
Title
Author, Year
Primary
Casein kinase 1 delta regulates the pace of the mammalian circadian clock.

M_CSNK1E_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: CSNK1E KO with deletion of exons 2 and 3 of the gene using Protamine-cre that is activated in the male germline, bred to homozygosity
Allele Type: Conditional loss-of-function
Strain of Origin: Not specified
Genetic Background: C57BL/6J
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified

M_CSNK1E_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Locomotor activity in diurnal cycle1
Increased
Description: There is increased in locomotor activity in the light/dark cycle indicated by longer free running period
Exp Paradigm: Locomotor activity rhythm in light/dark cycle
 Running wheel test
 Unreported
Circadian rhythm1
 No Change
 Running wheel test
 Unreported
Circadian rhythm1
 No Change
 Running wheel test
 Unreported
Circadian rhythm: Protein expression periodicity1
 No Change
 Western blot
 Unreported
 Not Reported: Communications, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

 

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