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

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