Hs04092010_cn

• Gene Symbol: COMT
• Assay Reference Genome Location: Chr.22:19954880 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	COMT ARVCF MIR185 TANGO2 MIR4761
esv3584493	Chr.22:19954404 - 19991035 on Build GRCh38	Gain	COMT ARVCF MIR4761
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	LINC00896 CCDC188 DGCR8 LOC101927859 TANGO2 RANBP1 GP1BB MIR4761 C22orf29 DGCR6L ZDHHC8 TBX1 LOC440792 ARVCF MIR185 CLDN5 MIR1306 UFD1L MIR3618 GNB1L LOC284865 MIR6816 CDC45 SEPT5-GP1BB COMT TXNRD2 RTN4R TRMT2A MIR1286 SEPT5 LINC00895
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	LINC00896 CCDC188 DGCR8 TANGO2 RANBP1 GP1BB MIR4761 C22orf29 DGCR6L ZDHHC8 TBX1 LOC440792 ARVCF MIR185 MIR1306 MIR3618 GNB1L LOC284865 MIR6816 SEPT5-GP1BB COMT TXNRD2 RTN4R TRMT2A MIR1286 SEPT5
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	LINC00896 CCDC188 DGCR8 TANGO2 RANBP1 GP1BB MIR4761 C22orf29 DGCR6L ZDHHC8 TBX1 LOC440792 ARVCF MIR185 MIR1306 MIR3618 GNB1L LOC284865 MIR6816 SEPT5-GP1BB COMT TXNRD2 RTN4R TRMT2A MIR1286 SEPT5
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	COMT TXNRD2 ARVCF MIR185 TANGO2 MIR4761
esv3647280	Chr.22:19901541 - 19962814 on Build GRCh38	Gain	COMT TXNRD2
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	COMT TXNRD2 DGCR8 ARVCF MIR185 TANGO2 MIR4761
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	LINC00896 CCDC188 MIR3618 DGCR8 GNB1L LOC284865 MIR6816 TANGO2 RANBP1 MIR4761 C22orf29 DGCR6L ZDHHC8 TBX1 LOC440792 COMT TXNRD2 ARVCF MIR185 RTN4R TRMT2A MIR1306 MIR1286
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	GGT3P TSSK2 DGCR2 LOC100996401 DGCR6 GP1BB FAM230A MIR4761 GSC2 PRODH C22orf29 RIMBP3 LOC100996432 TBX1 LOC100996415 MRPL40 CLDN5 DGCR10 LOC642643 PI4KAP1 DGCR5 HIRA LINC01311 UFD1L LOC729461 GNB1L SLC25A1 USP18 DGCR11 TMEM191B CDC45 DGCR9 LOC102725072 SEPT5-GP1BB COMT TXNRD2 DGCR14 CLTCL1 SEPT5 C22orf39 LINC00895

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