Hs04078018_cn

• Gene Symbol: COMT
• Assay Reference Genome Location: Chr.22:19955996 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 COMT MIR4761
nsv953026	Chr.22:19950978 - 20070877 on Build GRCh38	Deletion	ARVCF MIR185 COMT MIR4761 TANGO2
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	ARVCF C22orf29 CDC45 MIR185 GP1BB DGCR8 MIR1306 LINC00896 LINC00895 RANBP1 MIR6816 LOC284865 CLDN5 TANGO2 TRMT2A SEPT5 DGCR6L MIR1286 MIR3618 LOC440792 COMT SEPT5-GP1BB RTN4R ZDHHC8 LOC101927859 TXNRD2 CCDC188 GNB1L TBX1 UFD1L MIR4761
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	ARVCF C22orf29 MIR185 GP1BB DGCR8 MIR1306 LINC00896 RANBP1 MIR6816 LOC284865 TANGO2 TRMT2A SEPT5 DGCR6L MIR1286 MIR3618 LOC440792 COMT SEPT5-GP1BB RTN4R ZDHHC8 TXNRD2 CCDC188 GNB1L TBX1 MIR4761
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	ARVCF C22orf29 MIR185 GP1BB DGCR8 MIR1306 LINC00896 RANBP1 MIR6816 LOC284865 TANGO2 TRMT2A SEPT5 DGCR6L MIR1286 MIR3618 LOC440792 COMT SEPT5-GP1BB RTN4R ZDHHC8 TXNRD2 CCDC188 GNB1L TBX1 MIR4761
esv3647280	Chr.22:19901541 - 19962814 on Build GRCh38	Gain	TXNRD2 COMT
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	ARVCF TXNRD2 MIR185 COMT MIR4761 TANGO2
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	ARVCF TXNRD2 MIR185 COMT DGCR8 MIR4761 TANGO2
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	ARVCF DGCR6L C22orf29 MIR1286 MIR185 MIR3618 LOC440792 COMT DGCR8 MIR1306 LINC00896 RTN4R ZDHHC8 RANBP1 MIR6816 LOC284865 TXNRD2 CCDC188 GNB1L TBX1 MIR4761 TANGO2 TRMT2A
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	TMEM191B DGCR10 C22orf29 DGCR11 CDC45 LOC642643 GP1BB LINC00895 LOC100996432 LOC100996415 LINC01311 DGCR9 CLDN5 SLC25A1 GGT3P DGCR14 FAM230A C22orf39 HIRA LOC729461 DGCR6 GSC2 DGCR5 TSSK2 CLTCL1 SEPT5 RIMBP3 DGCR2 PRODH COMT PI4KAP1 SEPT5-GP1BB USP18 LOC102725072 MRPL40 TXNRD2 LOC100996401 GNB1L TBX1 UFD1L 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