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Relevance to Autism

Studies have found genetic association and rare variants in the ASMT gene that are identified with autism.

Molecular Function

melatonin biosynthesis

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Abnormal melatonin synthesis in autism spectrum disorders.
ASD
Positive Association
Association between ASMT and autistic-like traits in children from a Swedish nationwide cohort.
ALTs
Positive Association
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplica...
ASD
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
ASD
ID
Support
Sequencing ASMT identifies rare mutations in Chinese Han patients with autism.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Highly Cited
Pineal N-acetyltransferase and hydroxyindole-O-methyltransferase: control by the retinohypothalamic tract and the suprachiasmatic nucleus.
Highly Cited
CONTROL OF HYDROXYINDOLE O-METHYLTRANSFERASE ACTIVITY IN THE RAT PINEAL GLAND BY ENVIRONMENTAL LIGHTING.
Recent Recommendation
Daily rhythm in pineal phosphodiesterase (PDE) activity reflects adrenergic/3',5'-cyclic adenosine 5'-monophosphate induction of the PDE4B2 variant.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN018R001 
 splice_site_variant 
 IVS5+2T>C 
 p.? 
 Familial 
 Paternal 
 Simplex 
 GEN018R002 
 missense_variant 
 c.51C>A 
 p.Asn17Lys 
 De novo 
 NA 
 Simplex 
 GEN018R003 
 missense_variant 
 c.241A>G 
 p.Lys81Glu 
 Familial 
 Maternal 
 Simplex 
 GEN018R004 
 missense_variant 
 c.917G>C 
 p.Gly306Ala 
 De novo 
 NA 
 Simplex 
 GEN018R005 
 missense_variant 
 c.976C>T 
 p.Leu326Phe 
 De novo 
 NA 
 Simplex 
 GEN018R006 
 synonymous_variant 
  
 p.(=) 
  
  
 Simplex 
 GEN018R007 
 synonymous_variant 
 c.615G>A 
 p.Gln205= 
  
  
 Simplex 
 GEN018R008 
 copy_number_gain 
  
  
 Unknown 
  
 Unknown 
 GEN018R009 
 missense_variant 
 c.343C>T 
 p.Arg115Trp 
 Familial 
 Maternal 
 Unknown 
 GEN018R010 
 missense_variant 
 c.496G>A 
 p.Val166Ile 
 Familial 
 Maternal 
 Unknown 
 GEN018R011 
 missense_variant 
 c.536T>G 
 p.Val179Gly 
 Familial 
 Maternal (1 case), Paternal (1 case) 
 Unknown 
 GEN018R012 
 stop_gained 
 A>G 
 p.Trp257Ter 
 Familial 
 Paternal 
 Unknown 
 GEN018R013 
 2KB_upstream_variant 
 c.-56C>A 
  
 Unknown 
  
 Unknown 
 GEN018R014 
 splice_site_variant 
 IVS2+943T 
 p.? 
 Unknown 
  
 Unknown 
 GEN018R015 
 splice_site_variant 
 IVS5+43G>C 
 p.? 
 Unknown 
  
 Unknown 
 GEN018R016 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN018R017 
 stop_gained 
 c.569G>A 
 p.Trp190Ter 
 De novo 
 NA 
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN018C001 
 copy_number_gain 
  
 N/A 
 N/A 
 SARC, AGRE 
 Discovery 
 GEN018C002 
 intron_variant, 2_KB_upstream_variant 
 rs4446909 
 c.-310G>A;c.-67-243G>A 
 G 
 PARIS and others 
 Discovery 
 GEN018C003 
 intron_variant, 2_KB_upstream_variant 
 rs5989681 
 c.-201G>C;c.-67-134G>C 
 G 
 PARIS and others 
 Discovery 
 GEN018C004 
 intron_variant 
 rs5949028 
 c.910+213C>T;c.685+213C>T;c.826+213C>T 
 T/C 
 1771 individuals (884 males and 887 females) from The Child and Adolescent Twin Study in Sweden (CATSS), which were all assessed for autistic-like traits (ALTs). 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 40
 
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
Duplication
 4
 
X
Deletion
 5
 
X
Duplication
 5
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 
X/Y
Duplication
 5
 
X/Y
Duplication
 2
 
Y
Duplication
 7
 

No Animal Model Data Available

No PIN Data Available
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