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Evidence Detail for ASMT

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Basic Information Top
Gene Full Name: acetylserotonin O-methyltransferase
Band: Xp22.3 or Yp11.3
Quick LinksEntrez ID:438; OMIM: 300015,402500; Uniprot ID:HIOM_HUMAN; ENSEMBL ID: ENSG00000196433
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (4) 0 (0) 1 (5) 3 (3) 26 (12)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 4
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
Toma, 2007_1 Finland 4 (detail) 127
--ASD -
- 100
Toma, 2007_3 IMGSAC 4 (detail) 194
--ASD -
- 190
Toma, 2007_2 Italy 4 (detail) 69
--ASD -
- 90
Melke, 2008_1 PARIS 4 (detail) 278
- 255
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Toma, 2007_1 human bloodASD genetics: mutation screen
  • Subjects: 390
  • Normal Controls: 490
  • Methods: sequence
  • Evidence Details: Several rare mutations were identified. The splice site mutation was not only found in three families but also in one control individual. A new R319X stop mutation has been found in a single autism proband of Italian origin and is absent from the entire control sample.
Cai, 2008_1 human blood--ASD genetics
  • Subjects: 279
  • Normal Controls: -
  • Methods: Multiplex ligation-dependent probe amplification (MLPA), Fluorescence in situ hybridization (FISH), quantitative polymerase chain reaction (Q-PCR) and/or direct DNA sequencing
  • Evidence Details: A partial duplication in the ASMT gene, located in the pseudoautosomal region 1 (PAR1) of the sex chromosomes and previously suggested to be involved in ASD susceptibility, was observed in 6-7% of the cases but in only 2% of controls (P = 0.003).
Melke, 2008_1 human bloodASD genetics: mutation screen
  • Subjects: 250 (187 men, 63 women)
  • Normal Controls: 255
  • Methods: direct sequencing or TaqMan technology
  • Evidence Details: Several ASMT variants were identified, including a splice-site mutation (IVS5+2T>C), four non-synonymous variations (N17K, K81E, G306A, L326F) and two synonymous variations (N167N, Q205Q).
Melke, 2008_2 human blood and plateletASD protein expression
  • Subjects: 43 (14 female and 29 male)
  • Normal Controls: 75 (30 female and 45 male)
  • Methods: qRT-PCR, biochemical analyses
  • Evidence Details: Biochemical analyses performed on blood platelets and/or cultured cells revealed a highly significant decrease in ASMT activity and melatonin level in individuals with ASD.
Jonsson, 2010_1 human -ASD genetics: mutation screen
  • Subjects: 109 (40 females and 69 males)
  • Normal Controls: 188 (94 females and 94 males)
  • Methods: direct sequencing
  • Evidence Details: Several rare variants were identified in patients with ASD, including the previously reported splice site mutation in ASMT (IVS5+2T>C). Of the variants affecting protein sequence, only the V124I in the MTNR1B gene was absent in our comparison group. However, mutations were found in upstream regulatory regions in three of the genes investigated, ASMT, MTNR1A, and MTNR1B.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000161 X Xp22.33-22.31 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0000299 X Xp22 loss 1 - Denovo CNVs; Thomas, 1999
AutCNV0000300 X Xp22 loss 1 - Denovo CNVs; Thomas, 1999
AutCNV0000301 X Xp22 loss 1 - Denovo CNVs; Thomas, 1999
AutCNV0000713 X Xp11.2-p22.33 gain 1 - CNVs Only Present In Patients; Edens, 2011
AutCNV0004398 X Xp22.32-p22.33 loss 1 - CNVs Only Present In Patients; Sanders, 2011
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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