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

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