Hs04092848_cn

• Gene Symbol: COMT
• Assay Reference Genome Location: Chr.22:19955349 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
esv3584493	Chr.22:19954404 - 19991035 on Build GRCh38	Gain	ARVCF MIR4761 COMT
nsv953026	Chr.22:19950978 - 20070877 on Build GRCh38	Deletion	MIR185 ARVCF MIR4761 COMT TANGO2
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	SEPT5 UFD1L MIR1286 ZDHHC8 LOC284865 DGCR8 CDC45 TANGO2 GP1BB MIR185 ARVCF LOC101927859 SEPT5-GP1BB COMT MIR1306 TRMT2A DGCR6L LOC440792 C22orf29 TXNRD2 LINC00895 GNB1L RTN4R RANBP1 MIR3618 LINC00896 CCDC188 MIR4761 CLDN5 TBX1 MIR6816
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	SEPT5 MIR1286 ZDHHC8 LOC284865 DGCR8 TANGO2 GP1BB MIR185 ARVCF SEPT5-GP1BB COMT MIR1306 TRMT2A DGCR6L LOC440792 C22orf29 TXNRD2 GNB1L RTN4R RANBP1 MIR3618 LINC00896 CCDC188 MIR4761 TBX1 MIR6816
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	SEPT5 MIR1286 ZDHHC8 LOC284865 DGCR8 TANGO2 GP1BB MIR185 ARVCF SEPT5-GP1BB COMT MIR1306 TRMT2A DGCR6L LOC440792 C22orf29 TXNRD2 GNB1L RTN4R RANBP1 MIR3618 LINC00896 CCDC188 MIR4761 TBX1 MIR6816
esv3647280	Chr.22:19901541 - 19962814 on Build GRCh38	Gain	TXNRD2 COMT
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	MIR185 TXNRD2 ARVCF MIR4761 COMT TANGO2
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	MIR185 TXNRD2 ARVCF MIR4761 DGCR8 COMT TANGO2
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR1306 TRMT2A MIR1286 DGCR6L ZDHHC8 LOC284865 LOC440792 DGCR8 TANGO2 C22orf29 MIR185 TXNRD2 ARVCF GNB1L RTN4R RANBP1 MIR3618 LINC00896 CCDC188 MIR4761 TBX1 COMT MIR6816
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	LOC642643 SEPT5 UFD1L PI4KAP1 GGT3P PRODH LINC01311 CDC45 GP1BB C22orf39 HIRA DGCR10 DGCR11 SLC25A1 USP18 LOC100996415 RIMBP3 SEPT5-GP1BB GSC2 COMT MRPL40 DGCR5 LOC729461 DGCR6 DGCR9 TMEM191B C22orf29 CLTCL1 TXNRD2 TSSK2 LINC00895 GNB1L LOC100996432 DGCR2 MIR4761 CLDN5 TBX1 DGCR14 LOC100996401 FAM230A LOC102725072

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