Hs04502896_cn

• Gene Symbol: COMT
• Assay Reference Genome Location: Chr.22:19957567 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 4

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_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
nsv953026	Chr.22:19950978 - 20070877 on Build GRCh38	Deletion	MIR185 COMT ARVCF TANGO2 MIR4761
esv3584493	Chr.22:19954404 - 19991035 on Build GRCh38	Gain	COMT ARVCF MIR4761
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	RANBP1 LOC101927859 DGCR8 MIR3618 LOC284865 LINC00895 ARVCF TANGO2 TXNRD2 LINC00896 UFD1L COMT C22orf29 SEPT5-GP1BB GNB1L DGCR6L MIR4761 CCDC188 LOC440792 TBX1 TRMT2A MIR185 GP1BB RTN4R MIR1286 CLDN5 CDC45 ZDHHC8 MIR1306 MIR6816 SEPT5
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	RANBP1 DGCR8 MIR3618 LOC284865 ARVCF TANGO2 TXNRD2 LINC00896 COMT C22orf29 SEPT5-GP1BB GNB1L DGCR6L MIR4761 CCDC188 LOC440792 TBX1 TRMT2A MIR185 GP1BB RTN4R MIR1286 ZDHHC8 MIR1306 MIR6816 SEPT5
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	RANBP1 DGCR8 MIR3618 LOC284865 ARVCF TANGO2 TXNRD2 LINC00896 COMT C22orf29 SEPT5-GP1BB GNB1L DGCR6L MIR4761 CCDC188 LOC440792 TBX1 TRMT2A MIR185 GP1BB RTN4R MIR1286 ZDHHC8 MIR1306 MIR6816 SEPT5
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	MIR185 COMT ARVCF TANGO2 MIR4761 TXNRD2
esv3647280	Chr.22:19901541 - 19962814 on Build GRCh38	Gain	COMT TXNRD2
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	MIR185 COMT DGCR8 ARVCF TANGO2 MIR4761 TXNRD2
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	SLC25A1 DGCR2 LOC729461 DGCR11 LOC642643 LINC00895 HIRA RIMBP3 PI4KAP1 TXNRD2 UFD1L DGCR9 LOC102725072 CLTCL1 COMT USP18 C22orf29 TMEM191B SEPT5-GP1BB GNB1L MIR4761 LOC100996432 TBX1 LINC01311 FAM230A PRODH C22orf39 DGCR6 DGCR14 LOC100996401 GP1BB GGT3P CLDN5 TSSK2 LOC100996415 GSC2 CDC45 DGCR5 DGCR10 MRPL40 SEPT5
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	RANBP1 DGCR8 CCDC188 MIR3618 LOC284865 LOC440792 ARVCF TANGO2 TBX1 TXNRD2 TRMT2A LINC00896 MIR185 COMT RTN4R C22orf29 MIR1286 GNB1L DGCR6L MIR4761 ZDHHC8 MIR1306 MIR6816

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