Evidence Detail for ASMT

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Basic Information Top

Gene Symbol:	ASMT ( ASMTY,HIOMT,HIOMTY )
Gene Full Name:	acetylserotonin O-methyltransferase
Band:	Xp22.3 or Yp11.3
Quick Links	Entrez ID:438; OMIM: 300015,402500; Uniprot ID:HIOM_HUMAN; ENSEMBL ID: ENSG00000196433

Sequences Top

nucleotide Sequence
Protein Sequence

>ASMT|438|nucleotide
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.

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

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Population	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Melke, 2008_1	PARIS	4 (detail)	278	278 (27.70%)			ASD	- -	- -

Case Control Based Association Studies: 4

Reference	Population	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Population	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
Toma, 2007_2	Italy	4 (detail)	69 (-)	-	-	ASD	- -	-	90 (-)	- -
Toma, 2007_1	Finland	4 (detail)	127 (-)	-	-	ASD	- -	-	100 (-)	- -
Toma, 2007_3	IMGSAC	4 (detail)	194 (-)	-	-	ASD	- -	-	190 (-)	- -
Melke, 2008_1	PARIS	4 (detail)	278 (27.70%)			ASD	- -	-	255 (-)	- -

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Stage	#SNPs/ #VNTRs	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Other Low Scale Gene Studies Top

Reference	Orangnism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level
Toma, 2007_1	human	blood			ASD	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	blood			ASD	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 platelet			ASD	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

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

Reference	Population	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

CNV Studies Top

CNV Name	Chr	Band	Gain/Loss	Number of CNVs		Evidence Type	Reference
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
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

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
No Matched Linkage Regions !

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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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