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

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