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Relevance to Autism

An enrichment of deletions of the TRPM1 gene were observed in ASD cases (5/2,588) compared to controls (0/2,670; Fisher's exact test p=0.029) (Girirajan et al., 2013).

Molecular Function

This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis.

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
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
A survey of rare coding variants in candidate genes in schizophrenia by deep sequencing.
SCZ

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN513R001 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN513R002 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN513R003 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Multiplex 
 GEN513R004a 
 copy_number_loss 
  
  
 Familial 
 Both parents 
 Multiplex 
 GEN513R005 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN513R006 
 stop_gained 
 c.3115C>T 
 p.Arg1039Ter 
 Unknown 
  
 Unknown 
 GEN513R007 
 missense_variant 
 c.2433C>G 
 p.Phe811Leu 
 De novo 
 NA 
 Simplex 
 GEN513R008 
 splice_site_variant 
 c.3680+1G>T 
  
 Familial 
 Paternal 
 Multiplex 
 GEN513R009 
 splice_site_variant 
 c.1016+1G>A 
  
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 10
  construct
15
Duplication
 1
 
15
Duplication
 2
 
15
Deletion
 1
 
15
Duplication
 66
  construct
15
Duplication
 14
 
15
Duplication
 3
 
15
Deletion-Duplication
 13
 
15
Deletion
 18
 
15
Deletion-Duplication
 43
 
15
Deletion-Duplication
 71
  construct

No Animal Model Data Available

No PIN Data Available
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