Hs04091259_cn

• Gene Symbol: COMT
• Assay Reference Genome Location: Chr.22:19965986 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
nsv953026	Chr.22:19950978 - 20070877 on Build GRCh38	Deletion	ARVCF TANGO2 MIR4761 MIR185 COMT
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	ZDHHC8 MIR4761 CCDC188 COMT DGCR6L GP1BB UFD1L LOC101927859 DGCR8 RTN4R SEPT5-GP1BB CLDN5 TXNRD2 MIR1306 GNB1L TBX1 ARVCF TRMT2A LOC284865 RANBP1 C22orf29 CDC45 TANGO2 MIR1286 LINC00896 LOC440792 SEPT5 MIR3618 LINC00895 MIR185 MIR6816
nsv1064496	Chr.22:19960814 - 19991035 on Build GRCh38	Gain	ARVCF MIR4761 COMT
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	ZDHHC8 MIR4761 CCDC188 COMT DGCR6L GP1BB DGCR8 RTN4R SEPT5-GP1BB TXNRD2 MIR1306 GNB1L TBX1 ARVCF TRMT2A LOC284865 RANBP1 C22orf29 TANGO2 MIR1286 LINC00896 LOC440792 SEPT5 MIR3618 MIR185 MIR6816
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	ZDHHC8 MIR4761 CCDC188 COMT DGCR6L GP1BB DGCR8 RTN4R SEPT5-GP1BB TXNRD2 MIR1306 GNB1L TBX1 ARVCF TRMT2A LOC284865 RANBP1 C22orf29 TANGO2 MIR1286 LINC00896 LOC440792 SEPT5 MIR3618 MIR185 MIR6816
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	ARVCF TANGO2 MIR4761 TXNRD2 MIR185 COMT
nsv517165	Chr.22:19962905 - 19999679 on Build GRCh38	Loss	ARVCF MIR4761 COMT
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	ARVCF TANGO2 DGCR8 MIR4761 TXNRD2 MIR185 COMT
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR1306 GNB1L TBX1 ARVCF ZDHHC8 MIR4761 TRMT2A CCDC188 COMT LOC284865 RANBP1 DGCR6L C22orf29 TANGO2 MIR1286 LINC00896 DGCR8 LOC440792 RTN4R MIR3618 TXNRD2 MIR185 MIR6816
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