Hs04090456_cn

• Gene Symbol: COMT
• Assay Reference Genome Location: Chr.22:19951450 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COMT	NM_000754.3			NP_000745.1
	NM_001135161.1			NP_001128633.1
	XM_017028594.1			XP_016884083.1
	XM_017028595.1			XP_016884084.1
	AK130031.1
	AK290440.1
	BC000419.2			AAH00419.2
	BC005867.2			AAH05867.1
	BE386545.1
	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	MIR4761 COMT TANGO2 ARVCF MIR185
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	DGCR8 LOC101927859 CLDN5 LINC00896 CCDC188 LOC440792 DGCR6L TXNRD2 GNB1L LINC00895 UFD1L SEPT5-GP1BB TBX1 MIR3618 LOC284865 TANGO2 RANBP1 MIR1306 MIR1286 COMT ARVCF MIR6816 MIR185 C22orf29 CDC45 MIR4761 TRMT2A GP1BB SEPT5 RTN4R ZDHHC8
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	DGCR8 LINC00896 CCDC188 LOC440792 DGCR6L TXNRD2 GNB1L SEPT5-GP1BB TBX1 MIR3618 LOC284865 TANGO2 RANBP1 MIR1306 MIR1286 COMT ARVCF MIR6816 MIR185 C22orf29 MIR4761 TRMT2A GP1BB SEPT5 RTN4R ZDHHC8
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	DGCR8 LINC00896 CCDC188 LOC440792 DGCR6L TXNRD2 GNB1L SEPT5-GP1BB TBX1 MIR3618 LOC284865 TANGO2 RANBP1 MIR1306 MIR1286 COMT ARVCF MIR6816 MIR185 C22orf29 MIR4761 TRMT2A GP1BB SEPT5 RTN4R ZDHHC8
esv3647280	Chr.22:19901541 - 19962814 on Build GRCh38	Gain	COMT TXNRD2
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	MIR4761 COMT TANGO2 TXNRD2 ARVCF MIR185
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	DGCR8 MIR4761 COMT TANGO2 TXNRD2 ARVCF MIR185
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR1286 DGCR8 COMT LINC00896 CCDC188 LOC440792 DGCR6L TXNRD2 ARVCF GNB1L MIR6816 MIR185 C22orf29 MIR4761 TRMT2A TBX1 MIR3618 LOC284865 TANGO2 RANBP1 MIR1306 RTN4R ZDHHC8
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	LINC01311 CLDN5 DGCR14 DGCR6 GGT3P CLTCL1 TXNRD2 LOC102725072 GNB1L USP18 LOC642643 DGCR9 LINC00895 UFD1L LOC100996401 SEPT5-GP1BB DGCR11 TBX1 TMEM191B LOC100996432 FAM230A LOC729461 C22orf39 SLC25A1 COMT PI4KAP1 RIMBP3 DGCR2 DGCR5 C22orf29 LOC100996415 CDC45 MIR4761 GSC2 MRPL40 HIRA GP1BB TSSK2 PRODH SEPT5 DGCR10

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