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