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
esv3568271	Chr.22:19962193 - 19966868 on Build GRCh38	Loss	COMT MIR4761 ARVCF
esv3584493	Chr.22:19954404 - 19991035 on Build GRCh38	Gain	COMT MIR4761 ARVCF
nsv1055752	Chr.22:19960814 - 20013499 on Build GRCh38	Gain	COMT MIR4761 ARVCF
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	UFD1L LOC101927859 RTN4R LINC00896 LINC00895 RANBP1 GP1BB CDC45 MIR6816 COMT CCDC188 C22orf29 TRMT2A SEPT5-GP1BB MIR1286 ARVCF MIR3618 DGCR6L MIR185 CLDN5 SEPT5 GNB1L TXNRD2 ZDHHC8 TBX1 LOC284865 MIR1306 DGCR8 TANGO2 MIR4761 LOC440792
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	RTN4R LINC00896 RANBP1 GP1BB MIR6816 COMT CCDC188 C22orf29 TRMT2A SEPT5-GP1BB MIR1286 ARVCF MIR3618 DGCR6L MIR185 SEPT5 GNB1L TXNRD2 ZDHHC8 TBX1 LOC284865 MIR1306 DGCR8 TANGO2 MIR4761 LOC440792
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	MIR185 COMT TXNRD2 TANGO2 MIR4761 ARVCF
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	MIR185 COMT TXNRD2 DGCR8 TANGO2 MIR4761 ARVCF
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR185 GNB1L TXNRD2 RTN4R LINC00896 ZDHHC8 RANBP1 TBX1 LOC284865 MIR6816 COMT CCDC188 MIR1306 C22orf29 DGCR8 TANGO2 TRMT2A MIR1286 MIR4761 ARVCF MIR3618 LOC440792 DGCR6L
nsv953026	Chr.22:19950978 - 20070877 on Build GRCh38	Deletion	MIR185 COMT TANGO2 MIR4761 ARVCF
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	RTN4R LINC00896 RANBP1 GP1BB MIR6816 COMT CCDC188 C22orf29 TRMT2A SEPT5-GP1BB MIR1286 ARVCF MIR3618 DGCR6L MIR185 SEPT5 GNB1L TXNRD2 ZDHHC8 TBX1 LOC284865 MIR1306 DGCR8 TANGO2 MIR4761 LOC440792
nsv588240	Chr.22:19962740 - 19965038 on Build GRCh38	Loss	COMT MIR4761
nsv517165	Chr.22:19962905 - 19999679 on Build GRCh38	Loss	COMT MIR4761 ARVCF
esv3568270	Chr.22:19963847 - 19966728 on Build GRCh38	Loss	COMT ARVCF

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