Hs04502451_cn

• Gene Symbol: COMT
• Assay Reference Genome Location: Chr.22:19960372 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 5

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
	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
	BC100018.1			AAI00019.1
	BE386545.1
	BE728779.1
	BX461394.2
	FJ224345.1
	M58525.1			AAA68929.1

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	COMT ARVCF MIR4761
nsv953026	Chr.22:19950978 - 20070877 on Build GRCh38	Deletion	COMT TANGO2 MIR185 ARVCF MIR4761
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	RTN4R TRMT2A DGCR6L TBX1 MIR1286 RANBP1 GP1BB SEPT5 DGCR8 CLDN5 TXNRD2 CCDC188 MIR1306 CDC45 MIR3618 ZDHHC8 UFD1L LINC00895 TANGO2 LINC00896 LOC284865 MIR4761 LOC440792 MIR6816 SEPT5-GP1BB GNB1L COMT MIR185 C22orf29 ARVCF LOC101927859
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	RTN4R TRMT2A DGCR6L TBX1 MIR1286 RANBP1 GP1BB SEPT5 DGCR8 TXNRD2 CCDC188 MIR1306 MIR3618 ZDHHC8 TANGO2 LINC00896 LOC284865 MIR4761 LOC440792 MIR6816 SEPT5-GP1BB GNB1L COMT MIR185 C22orf29 ARVCF
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	RTN4R TRMT2A DGCR6L TBX1 MIR1286 RANBP1 GP1BB SEPT5 DGCR8 TXNRD2 CCDC188 MIR1306 MIR3618 ZDHHC8 TANGO2 LINC00896 LOC284865 MIR4761 LOC440792 MIR6816 SEPT5-GP1BB GNB1L COMT MIR185 C22orf29 ARVCF
esv3647280	Chr.22:19901541 - 19962814 on Build GRCh38	Gain	TXNRD2 COMT
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	TXNRD2 COMT TANGO2 MIR185 ARVCF MIR4761
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	TXNRD2 COMT TANGO2 MIR185 ARVCF DGCR8 MIR4761
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	RTN4R TRMT2A DGCR6L TBX1 MIR1286 TANGO2 RANBP1 LINC00896 LOC284865 DGCR8 MIR4761 LOC440792 MIR6816 GNB1L TXNRD2 COMT MIR185 C22orf29 CCDC188 ARVCF MIR1306 MIR3618 ZDHHC8
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	DGCR14 TBX1 LOC642643 HIRA GP1BB PI4KAP1 SEPT5 LOC729461 RIMBP3 DGCR10 LOC100996415 TMEM191B DGCR6 CLDN5 C22orf39 TXNRD2 DGCR2 CDC45 GGT3P USP18 UFD1L GSC2 MRPL40 LINC01311 LINC00895 PRODH TSSK2 DGCR11 MIR4761 DGCR9 LOC102725072 SEPT5-GP1BB GNB1L FAM230A SLC25A1 COMT C22orf29 DGCR5 CLTCL1 LOC100996401 LOC100996432

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