Hs04085410_cn

• Gene Symbol: COMT
• Assay Reference Genome Location: Chr.22:19953209 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	MIR4761 TANGO2 MIR185 ARVCF COMT
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	LOC284865 TRMT2A RTN4R LINC00895 TXNRD2 LOC101927859 RANBP1 CLDN5 MIR6816 MIR4761 DGCR6L LOC440792 ARVCF MIR1286 COMT LINC00896 GNB1L C22orf29 GP1BB TBX1 MIR3618 MIR185 CDC45 DGCR8 TANGO2 CCDC188 UFD1L MIR1306 SEPT5-GP1BB ZDHHC8 SEPT5
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	LOC284865 TRMT2A RTN4R TXNRD2 RANBP1 MIR6816 MIR4761 DGCR6L LOC440792 ARVCF MIR1286 COMT LINC00896 GNB1L C22orf29 GP1BB TBX1 MIR3618 MIR185 DGCR8 TANGO2 CCDC188 MIR1306 SEPT5-GP1BB ZDHHC8 SEPT5
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	LOC284865 TRMT2A RTN4R TXNRD2 RANBP1 MIR6816 MIR4761 DGCR6L LOC440792 ARVCF MIR1286 COMT LINC00896 GNB1L C22orf29 GP1BB TBX1 MIR3618 MIR185 DGCR8 TANGO2 CCDC188 MIR1306 SEPT5-GP1BB ZDHHC8 SEPT5
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	MIR4761 TANGO2 TXNRD2 MIR185 ARVCF COMT
esv3647280	Chr.22:19901541 - 19962814 on Build GRCh38	Gain	TXNRD2 COMT
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	DGCR8 MIR4761 TANGO2 TXNRD2 MIR185 ARVCF COMT
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	DGCR9 DGCR10 LOC102725072 LINC00895 TXNRD2 LOC642643 GSC2 CLDN5 TSSK2 DGCR11 LOC729461 MIR4761 DGCR6 CLTCL1 GGT3P DGCR5 LOC100996401 LOC100996432 DGCR14 COMT GNB1L C22orf29 FAM230A GP1BB TBX1 PI4KAP1 USP18 C22orf39 DGCR2 RIMBP3 CDC45 MRPL40 PRODH LOC100996415 UFD1L SEPT5-GP1BB SLC25A1 LINC01311 TMEM191B SEPT5 HIRA
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	TBX1 LOC284865 MIR3618 TRMT2A RTN4R TXNRD2 MIR185 RANBP1 MIR6816 DGCR8 MIR4761 TANGO2 DGCR6L CCDC188 LOC440792 ARVCF MIR1286 COMT LINC00896 MIR1306 GNB1L C22orf29 ZDHHC8

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