Hs04078018_cn

• Gene Symbol: COMT
• Assay Reference Genome Location: Chr.22:19955996 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 MIR4761 COMT TANGO2 ARVCF
esv3584493	Chr.22:19954404 - 19991035 on Build GRCh38	Gain	MIR4761 COMT ARVCF
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	COMT TANGO2 CDC45 CCDC188 TBX1 RTN4R C22orf29 MIR6816 LOC284865 GNB1L RANBP1 MIR1286 LINC00896 MIR1306 ZDHHC8 ARVCF DGCR6L LOC440792 LINC00895 UFD1L TRMT2A TXNRD2 LOC101927859 CLDN5 SEPT5-GP1BB SEPT5 MIR185 MIR4761 MIR3618 GP1BB DGCR8
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	COMT TANGO2 CCDC188 TBX1 RTN4R C22orf29 MIR6816 LOC284865 GNB1L RANBP1 MIR1286 LINC00896 MIR1306 ZDHHC8 ARVCF DGCR6L LOC440792 TRMT2A TXNRD2 SEPT5-GP1BB SEPT5 MIR185 MIR4761 MIR3618 GP1BB DGCR8
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	COMT TANGO2 CCDC188 TBX1 RTN4R C22orf29 MIR6816 LOC284865 GNB1L RANBP1 MIR1286 LINC00896 MIR1306 ZDHHC8 ARVCF DGCR6L LOC440792 TRMT2A TXNRD2 SEPT5-GP1BB SEPT5 MIR185 MIR4761 MIR3618 GP1BB DGCR8
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	MIR185 MIR4761 COMT TANGO2 TXNRD2 ARVCF
esv3647280	Chr.22:19901541 - 19962814 on Build GRCh38	Gain	COMT TXNRD2
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	MIR185 MIR4761 COMT TANGO2 TXNRD2 DGCR8 ARVCF
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	COMT PI4KAP1 DGCR5 LOC100996401 CDC45 TBX1 RIMBP3 USP18 LOC729461 C22orf29 MRPL40 DGCR6 GNB1L LOC100996432 SLC25A1 TSSK2 LINC01311 GSC2 LOC102725072 TMEM191B HIRA LOC100996415 DGCR11 LINC00895 UFD1L PRODH DGCR2 TXNRD2 DGCR9 CLDN5 GGT3P SEPT5-GP1BB SEPT5 CLTCL1 MIR4761 DGCR14 DGCR10 GP1BB FAM230A C22orf39 LOC642643
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	COMT LOC440792 TANGO2 CCDC188 TBX1 TRMT2A TXNRD2 RTN4R C22orf29 MIR6816 LOC284865 GNB1L MIR185 MIR4761 RANBP1 MIR1286 MIR3618 LINC00896 MIR1306 ZDHHC8 DGCR8 ARVCF DGCR6L

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