Evidence Details for COMT

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Basic Information Top

Gene Symbol:	COMT ( - )
Gene Full Name:	catechol-O-methyltransferase
Band:	22q11.21
Quick Links	Entrez ID:1312; OMIM: 116790; Uniprot ID:COMT_HUMAN; ENSEMBL ID: ENSG00000093010; HGNC ID: 2228
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>COMT|1312|nucleotide
ATGCCGGAGGCCCCGCCTCTGCTGTTGGCAGCTGTGTTGCTGGGCCTGGTGCTGCTGGTGGTGCTGCTGCTGCTTCTGAGGCACTGGGGCTGGGGCCTGTGCCTT
ATCGGCTGGAACGAGTTCATCCTGCAGCCCATCCACAACCTGCTCATGGGTGACACCAAGGAGCAGCGCATCCTGAACCACGTGCTGCAGCATGCGGAGCCCGGG
AACGCACAGAGCGTGCTGGAGGCCATTGACACCTACTGCGAGCAGAAGGAGTGGGCCATGAACGTGGGCGACAAGAAAGGCAAGATCGTGGACGCCGTGATTCAG
GAGCACCAGCCCTCCGTGCTGCTGGAGCTGGGGGCCTACTGTGGCTACTCAGCTGTGCGCATGGCCCGCCTGCTGTCACCAGGGGCGAGGCTCATCACCATCGAG
ATCAACCCCGACTGTGCCGCCATCACCCAGCGGATGGTGGATTTCGCTGGCGTGAAGGACAAGGTCACCCTTGTGGTTGGAGCGTCCCAGGACATCATCCCCCAG
CTGAAGAAGAAGTATGATGTGGACACACTGGACATGGTCTTCCTCGACCACTGGAAGGACCGGTACCTGCCGGACACGCTTCTCTTGGAGGAATGTGGCCTGCTG
CGGAAGGGGACAGTGCTACTGGCTGACAACGTGATCTGCCCAGGTGCGCCAGACTTCCTAGCACACGTGCGCGGGAGCAGCTGCTTTGAGTGCACACACTACCAA
TCGTTCCTGGAATACAGGGAGGTGGTGGACGGCCTGGAGAAGGCCATCTACAAGGGCCCAGGCAGCGAAGCAGGGCCCTGA

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Evidence summary 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	CNV	Linkage	Association	Expression	NGS de novo	NGS Mosaic	NGS Other	Low-Scale Gene Studies	Total
Score (No. of Studies)	No	0 (0)	2 (11)	1 (1)	2 (4)	0 (0)	0 (0)	0 (0)	0 (0)	0 (1)	10 (17)

Syndromic Autism Gene Top

Genome-Wide Association Studies(By Ethnic Group) Top

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

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

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Roubertie, 2001	-	FISH			autism	-	-	-	-	1	-	1
Niklasson, 2002	Sweden	FISH			autism	-	-	-	-	1	-	1
Szatmari, 2007	Europe, North America	SNP microarray			ASD	1491	-	-	-	-	-	0
Ramelli, 2008	-	FISH			ASD	-	-	-	-	1	-	1
Marshall, 2008	-	SNP microarray			ASD	427	238	189	-	427	500	927
Christian, 2008	USA	aCGH			ASD	397	35	362	-	397	372	769
Bucan, 2009	USA	SNP microarray			autism, ASD	912	-	912	-	-	1488	1488
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283
Bremer, 2011	-	aCGH			ASD	-	-	-	-	223	-	223
Levy, 2011	Simons Simplex Collection	aCGH	-	-	ASD	915	915	-	-	-	-	-
Sanders, 2011	Simons Simplex Collection	SNP microarray	-	-	ASD	1127	1127	-	-	-	-	-

Linkage Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Bailey, 1998	-	microsatellite-based genomic screen			PDD	99	-	99	-	-	-	-

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 2

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Anderson, 2008_1	USA	ABI 7900 Taqman system, Puregene, Ensembl, dbSNP and AppliedBiosystems	403	- (-)			ASD	- -	- -
ASIAN
Yirmiya, 2001_1	Israel	PCR	34	- (%)			AD	- -	- -

Case Control Based Association Studies: 2

Reference	Source	Platfrom	ASD Cases					Normal Controls		Result
Reference	Source	Platfrom	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
James, 2006_1	USA	ABI PRISM 7700 and 7900 Sequence Detection Systems			ASD	- -	-	205 (-)	- -
Toma, 2012_1	Spanish	SNPlex			ASD	17 -	-	350 (16.86%)	- -
MIXED/OTHERS
Limprasert P, 2014_1	Thai	-			ASD	51.8 months from 15 months to 16.6 years	-	250 (28.80%)	- -	-

Large Scale Expression Studies Top

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

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

NGS de novo Mutation Studies Top

Reference	Case Number	Family Number	de novo Number	Title
No matched NGS de novo Mutation Studies!

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family			Affected	Validation Method
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
No matched NGS Other Studies!

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

AutismKB 2.0

Evidence Details for COMT

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics