ASMT
Homo sapiens
Gene Name: acetylserotonin O-methyltransferase
Aliases: RP13-297E16.2, ASMTY, HIOMT, HIOMTY
Chromosome No: X,Y
Chromosome Band: Xp22.33
Genetic Category: Rare Single Gene variant, Genetic Association-Genetic Association-Rare single gene variant
Aliases: RP13-297E16.2, ASMTY, HIOMT, HIOMTY
Chromosome No: X,Y
Chromosome Band: Xp22.33
Genetic Category: Rare Single Gene variant, Genetic Association-Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 11
Recent Reports: 1
Annotated variants: 22
Associated CNVs: 17
Evidence score: 3
ASD Reports: 11
Recent Reports: 1
Annotated variants: 22
Associated CNVs: 17
Evidence score: 3
| Associated Disorders: |
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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
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
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
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
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
GEN018R011
missense_variant
c.536T>G
p.Val179Gly
Familial
Maternal (1 case), Paternal (1 case)
Unknown
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
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