Hs04090456_cn

• Gene Symbol: COMT
• Assay Reference Genome Location: Chr.22:19951450 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COMT	NM_000754.3			NP_000745.1
	NM_001135161.1			NP_001128633.1
	XM_017028594.1			XP_016884083.1
	XM_017028595.1			XP_016884084.1
	AK130031.1
	AK290440.1
	BC000419.2			AAH00419.2
	BC005867.2			AAH05867.1
	BE386545.1
	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 COMT TANGO2 MIR4761
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	MIR6816 RTN4R TRMT2A UFD1L LINC00895 SEPT5-GP1BB C22orf29 CCDC188 DGCR8 LOC284865 CLDN5 LOC440792 MIR4761 ARVCF TXNRD2 CDC45 MIR1286 DGCR6L LOC101927859 TBX1 MIR1306 GP1BB ZDHHC8 MIR185 RANBP1 COMT TANGO2 LINC00896 MIR3618 GNB1L SEPT5
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR6816 RTN4R TRMT2A SEPT5-GP1BB C22orf29 CCDC188 DGCR8 LOC284865 LOC440792 MIR4761 ARVCF TXNRD2 MIR1286 DGCR6L TBX1 MIR1306 GP1BB ZDHHC8 MIR185 RANBP1 COMT TANGO2 LINC00896 MIR3618 GNB1L SEPT5
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR6816 RTN4R TRMT2A SEPT5-GP1BB C22orf29 CCDC188 DGCR8 LOC284865 LOC440792 MIR4761 ARVCF TXNRD2 MIR1286 DGCR6L TBX1 MIR1306 GP1BB ZDHHC8 MIR185 RANBP1 COMT TANGO2 LINC00896 MIR3618 GNB1L SEPT5
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	ARVCF TXNRD2 MIR185 COMT TANGO2 MIR4761
esv3647280	Chr.22:19901541 - 19962814 on Build GRCh38	Gain	TXNRD2 COMT
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	ARVCF TXNRD2 MIR185 DGCR8 COMT TANGO2 MIR4761
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	PI4KAP1 MRPL40 DGCR5 UFD1L DGCR11 LINC00895 SEPT5-GP1BB GGT3P GSC2 DGCR9 C22orf29 LINC01311 CLTCL1 LOC100996432 CLDN5 MIR4761 LOC100996401 SLC25A1 TXNRD2 CDC45 DGCR2 TBX1 TMEM191B C22orf39 DGCR14 PRODH GP1BB LOC102725072 COMT FAM230A RIMBP3 LOC642643 LOC100996415 USP18 GNB1L DGCR10 LOC729461 HIRA DGCR6 SEPT5 TSSK2
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	ARVCF TXNRD2 MIR6816 MIR1286 DGCR6L RTN4R TBX1 MIR1306 TRMT2A C22orf29 ZDHHC8 MIR185 CCDC188 RANBP1 DGCR8 LOC284865 COMT TANGO2 LINC00896 MIR3618 LOC440792 GNB1L MIR4761

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