Hs04084810_cn

• Gene Symbol: COMT
• Assay Reference Genome Location: Chr.22:19959343 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 COMT TANGO2 ARVCF MIR4761
esv3584493	Chr.22:19954404 - 19991035 on Build GRCh38	Gain	COMT ARVCF MIR4761
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	SEPT5-GP1BB MIR6816 TANGO2 ARVCF MIR4761 CCDC188 GP1BB ZDHHC8 RTN4R LOC284865 UFD1L MIR1286 TRMT2A C22orf29 TXNRD2 LOC440792 TBX1 DGCR6L CDC45 DGCR8 SEPT5 CLDN5 RANBP1 LINC00896 MIR1306 MIR185 LOC101927859 COMT LINC00895 GNB1L MIR3618
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	SEPT5-GP1BB MIR6816 TANGO2 ARVCF MIR4761 CCDC188 GP1BB ZDHHC8 RTN4R LOC284865 MIR1286 TRMT2A C22orf29 TXNRD2 LOC440792 TBX1 DGCR6L DGCR8 SEPT5 RANBP1 LINC00896 MIR1306 MIR185 COMT GNB1L MIR3618
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	SEPT5-GP1BB MIR6816 TANGO2 ARVCF MIR4761 CCDC188 GP1BB ZDHHC8 RTN4R LOC284865 MIR1286 TRMT2A C22orf29 TXNRD2 LOC440792 TBX1 DGCR6L DGCR8 SEPT5 RANBP1 LINC00896 MIR1306 MIR185 COMT GNB1L MIR3618
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	MIR185 COMT TANGO2 ARVCF MIR4761 TXNRD2
esv3647280	Chr.22:19901541 - 19962814 on Build GRCh38	Gain	COMT TXNRD2
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	DGCR8 MIR185 COMT TANGO2 ARVCF MIR4761 TXNRD2
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	GSC2 SEPT5-GP1BB HIRA DGCR14 CLTCL1 LINC01311 MIR4761 DGCR10 LOC100996415 GP1BB LOC100996432 USP18 FAM230A UFD1L C22orf29 TMEM191B TXNRD2 PRODH MRPL40 TBX1 CDC45 LOC642643 SEPT5 GGT3P DGCR5 C22orf39 CLDN5 TSSK2 SLC25A1 LOC100996401 LOC729461 RIMBP3 DGCR9 LOC102725072 COMT DGCR11 PI4KAP1 DGCR6 DGCR2 LINC00895 GNB1L
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	TBX1 DGCR6L MIR6816 DGCR8 TANGO2 ARVCF MIR4761 RANBP1 CCDC188 ZDHHC8 RTN4R LINC00896 MIR1306 LOC284865 MIR185 COMT MIR1286 TRMT2A C22orf29 TXNRD2 GNB1L LOC440792 MIR3618

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