Hs04082636_cn

• Gene Symbol: COMT
• Assay Reference Genome Location: Chr.22:19965007 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 1312
• Gene Name: catechol-O-methyltransferase
• Gene Aliases: HEL-S-98n
• Location: Chr.22:19941740-19969975 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COMT	NM_000754.3			NP_000745.1
	NM_001135161.1			NP_001128633.1
	NM_001135162.1			NP_001128634.1
	NM_007310.2			NP_009294.1
	XM_011529886.1			XP_011528188.1
	XM_017028594.1			XP_016884083.1
	XM_017028595.1			XP_016884084.1
	AK130031.1
	AK290440.1
	BC000419.2			AAH00419.2
	BC005867.2			AAH05867.1
	BC011935.2			AAH11935.1
	BC100018.1			AAI00019.1
	CR456422.1			CAG30308.1
	CR456997.1			CAG33278.1
	EF103918.1
	EF103919.1
	EF212883.1
	EF217321.1
	EF217322.1
	FJ224345.1
	FJ410131.1
	FJ410132.1
	M58525.1			AAA68929.1
	M65212.1			AAA68927.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3584493	Chr.22:19954404 - 19991035 on Build GRCh38	Gain	ARVCF MIR4761 COMT
esv3568271	Chr.22:19962193 - 19966868 on Build GRCh38	Loss	ARVCF MIR4761 COMT
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	MIR6816 TBX1 SEPT5-GP1BB TXNRD2 LOC284865 RANBP1 UFD1L MIR185 CDC45 C22orf29 CLDN5 TRMT2A ZDHHC8 MIR1306 COMT LOC101927859 ARVCF CCDC188 MIR4761 SEPT5 LINC00896 GNB1L LOC440792 LINC00895 MIR3618 RTN4R DGCR8 DGCR6L GP1BB TANGO2 MIR1286
nsv1064496	Chr.22:19960814 - 19991035 on Build GRCh38	Gain	ARVCF MIR4761 COMT
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR6816 TBX1 SEPT5-GP1BB TXNRD2 LOC284865 RANBP1 MIR185 C22orf29 TRMT2A ZDHHC8 MIR1306 COMT ARVCF CCDC188 MIR4761 SEPT5 LINC00896 GNB1L LOC440792 MIR3618 RTN4R DGCR8 DGCR6L GP1BB TANGO2 MIR1286
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	ARVCF MIR185 MIR4761 COMT TANGO2 TXNRD2
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	ARVCF MIR185 DGCR8 MIR4761 COMT TANGO2 TXNRD2
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	ARVCF MIR6816 TBX1 CCDC188 MIR4761 LINC00896 TXNRD2 LOC284865 RANBP1 GNB1L MIR185 C22orf29 LOC440792 MIR3618 TRMT2A ZDHHC8 RTN4R MIR1306 DGCR8 DGCR6L COMT TANGO2 MIR1286
nsv953026	Chr.22:19950978 - 20070877 on Build GRCh38	Deletion	ARVCF MIR185 MIR4761 COMT TANGO2
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR6816 TBX1 SEPT5-GP1BB TXNRD2 LOC284865 RANBP1 MIR185 C22orf29 TRMT2A ZDHHC8 MIR1306 COMT ARVCF CCDC188 MIR4761 SEPT5 LINC00896 GNB1L LOC440792 MIR3618 RTN4R DGCR8 DGCR6L GP1BB TANGO2 MIR1286
nsv588240	Chr.22:19962740 - 19965038 on Build GRCh38	Loss	MIR4761 COMT
nsv517165	Chr.22:19962905 - 19999679 on Build GRCh38	Loss	ARVCF MIR4761 COMT
esv3568270	Chr.22:19963847 - 19966728 on Build GRCh38	Loss	ARVCF COMT

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

methyltransferase

Gene Ontology Categories:

Process(es)

female pregnancy
learning
short-term memory
estrogen metabolic process
response to organic cyclic compound
cellular response to phosphate starvation
methylation
response to lipopolysaccharide
developmental process
negative regulation of renal sodium excretion
neurotransmitter catabolic process
dopamine catabolic process
response to drug
negative regulation of dopamine metabolic process
response to pain
multicellular organismal reproductive process
negative regulation of smooth muscle cell proliferation
positive regulation of homocysteine metabolic process
regulation of sensory perception of pain

Function(s)

magnesium ion binding
protein binding
methyltransferase activity
O-methyltransferase activity
catechol O-methyltransferase activity