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