Hs04088743_cn

• Gene Symbol: COMT
• Assay Reference Genome Location: Chr.22:19955628 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	TANGO2 ARVCF MIR4761 MIR185 COMT
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	GP1BB CCDC188 SEPT5-GP1BB MIR6816 DGCR8 MIR185 COMT TRMT2A C22orf29 LOC440792 TBX1 UFD1L TXNRD2 MIR1286 LOC284865 MIR3618 ARVCF DGCR6L MIR1306 LOC101927859 RANBP1 LINC00896 RTN4R GNB1L TANGO2 SEPT5 MIR4761 CLDN5 LINC00895 CDC45 ZDHHC8
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	GP1BB CCDC188 SEPT5-GP1BB MIR6816 DGCR8 MIR185 COMT TRMT2A C22orf29 LOC440792 TBX1 TXNRD2 MIR1286 LOC284865 MIR3618 ARVCF DGCR6L MIR1306 RANBP1 LINC00896 RTN4R GNB1L TANGO2 SEPT5 MIR4761 ZDHHC8
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	GP1BB CCDC188 SEPT5-GP1BB MIR6816 DGCR8 MIR185 COMT TRMT2A C22orf29 LOC440792 TBX1 TXNRD2 MIR1286 LOC284865 MIR3618 ARVCF DGCR6L MIR1306 RANBP1 LINC00896 RTN4R GNB1L TANGO2 SEPT5 MIR4761 ZDHHC8
esv3647280	Chr.22:19901541 - 19962814 on Build GRCh38	Gain	COMT TXNRD2
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	TANGO2 ARVCF MIR4761 MIR185 COMT TXNRD2
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	TANGO2 ARVCF MIR4761 MIR185 COMT TXNRD2 DGCR8
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	ARVCF DGCR6L CCDC188 MIR1306 RANBP1 MIR6816 DGCR8 LINC00896 RTN4R GNB1L TANGO2 MIR4761 MIR185 COMT TRMT2A C22orf29 LOC440792 TBX1 TXNRD2 MIR1286 LOC284865 MIR3618 ZDHHC8
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	MRPL40 GP1BB GSC2 DGCR10 SLC25A1 SEPT5-GP1BB DGCR11 DGCR9 COMT LOC100996415 CLTCL1 LOC642643 C22orf29 LOC729461 LOC100996432 TBX1 UFD1L TXNRD2 C22orf39 LINC01311 HIRA LOC100996401 TSSK2 DGCR6 DGCR2 TMEM191B GGT3P PRODH DGCR5 GNB1L DGCR14 SEPT5 LOC102725072 MIR4761 CLDN5 LINC00895 CDC45 PI4KAP1 USP18 FAM230A RIMBP3

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