Hs04092010_cn

• Gene Symbol: COMT
• Assay Reference Genome Location: Chr.22:19954880 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	MIR4761 COMT ARVCF
nsv953026	Chr.22:19950978 - 20070877 on Build GRCh38	Deletion	MIR4761 TANGO2 MIR185 COMT ARVCF
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	LOC101927859 C22orf29 RTN4R LOC284865 SEPT5-GP1BB MIR185 MIR6816 TRMT2A CDC45 RANBP1 TXNRD2 COMT UFD1L LOC440792 MIR1286 LINC00896 MIR4761 LINC00895 TANGO2 CCDC188 SEPT5 MIR3618 TBX1 DGCR6L CLDN5 GNB1L MIR1306 ZDHHC8 DGCR8 GP1BB ARVCF
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	C22orf29 RTN4R LOC284865 SEPT5-GP1BB MIR185 MIR6816 TRMT2A RANBP1 TXNRD2 COMT LOC440792 MIR1286 LINC00896 MIR4761 TANGO2 CCDC188 SEPT5 MIR3618 TBX1 DGCR6L GNB1L MIR1306 ZDHHC8 DGCR8 GP1BB ARVCF
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	C22orf29 RTN4R LOC284865 SEPT5-GP1BB MIR185 MIR6816 TRMT2A RANBP1 TXNRD2 COMT LOC440792 MIR1286 LINC00896 MIR4761 TANGO2 CCDC188 SEPT5 MIR3618 TBX1 DGCR6L GNB1L MIR1306 ZDHHC8 DGCR8 GP1BB ARVCF
esv3647280	Chr.22:19901541 - 19962814 on Build GRCh38	Gain	TXNRD2 COMT
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	MIR4761 TANGO2 MIR185 TXNRD2 COMT ARVCF
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	MIR4761 DGCR8 TANGO2 MIR185 TXNRD2 COMT ARVCF
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	PI4KAP1 MRPL40 C22orf29 USP18 DGCR2 C22orf39 SEPT5-GP1BB RIMBP3 DGCR11 TSSK2 DGCR6 LOC100996401 CDC45 DGCR14 FAM230A PRODH SLC25A1 TXNRD2 GSC2 COMT UFD1L CLTCL1 MIR4761 LINC00895 GGT3P HIRA LOC100996415 SEPT5 LINC01311 TBX1 DGCR9 CLDN5 GNB1L LOC102725072 LOC729461 DGCR5 GP1BB LOC100996432 DGCR10 TMEM191B LOC642643
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	LINC00896 C22orf29 MIR4761 TANGO2 CCDC188 RTN4R LOC284865 MIR3618 MIR185 MIR6816 TBX1 DGCR6L GNB1L TRMT2A MIR1306 ZDHHC8 DGCR8 RANBP1 TXNRD2 COMT LOC440792 ARVCF 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