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

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