Hs04086089_cn

• Gene Symbol: COMT
• Assay Reference Genome Location: Chr.22:19954089 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	ARVCF MIR185 TANGO2 MIR4761 COMT
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	MIR1286 LOC284865 GNB1L RTN4R TXNRD2 TBX1 C22orf29 ZDHHC8 LINC00896 LINC00895 CCDC188 GP1BB MIR3618 SEPT5-GP1BB MIR1306 DGCR6L TRMT2A LOC440792 ARVCF MIR185 LOC101927859 SEPT5 MIR6816 RANBP1 DGCR8 COMT CDC45 UFD1L CLDN5 TANGO2 MIR4761
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR1286 LOC284865 GNB1L RTN4R TXNRD2 TBX1 C22orf29 ZDHHC8 LINC00896 CCDC188 GP1BB MIR3618 SEPT5-GP1BB MIR1306 DGCR6L TRMT2A LOC440792 ARVCF MIR185 SEPT5 MIR6816 RANBP1 DGCR8 COMT TANGO2 MIR4761
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR1286 LOC284865 GNB1L RTN4R TXNRD2 TBX1 C22orf29 ZDHHC8 LINC00896 CCDC188 GP1BB MIR3618 SEPT5-GP1BB MIR1306 DGCR6L TRMT2A LOC440792 ARVCF MIR185 SEPT5 MIR6816 RANBP1 DGCR8 COMT TANGO2 MIR4761
esv3647280	Chr.22:19901541 - 19962814 on Build GRCh38	Gain	TXNRD2 COMT
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	ARVCF MIR185 TXNRD2 TANGO2 MIR4761 COMT
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	ARVCF MIR185 TXNRD2 TANGO2 DGCR8 MIR4761 COMT
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR1286 TRMT2A LOC284865 GNB1L LOC440792 ARVCF MIR185 RTN4R TXNRD2 TBX1 C22orf29 MIR6816 ZDHHC8 LINC00896 RANBP1 CCDC188 DGCR8 COMT MIR3618 TANGO2 MIR1306 MIR4761 DGCR6L
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	GNB1L HIRA GSC2 LOC100996432 TXNRD2 TBX1 C22orf29 DGCR11 C22orf39 LINC00895 DGCR14 LOC102725072 DGCR10 GP1BB LOC100996401 SEPT5-GP1BB PRODH CLTCL1 SLC25A1 FAM230A LOC100996415 USP18 GGT3P SEPT5 LINC01311 MRPL40 LOC729461 PI4KAP1 COMT CDC45 TMEM191B UFD1L CLDN5 RIMBP3 DGCR2 TSSK2 DGCR6 DGCR9 LOC642643 MIR4761 DGCR5

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