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

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