Hs04081274_cn

• Gene Symbol: COMT
• Assay Reference Genome Location: Chr.22:19942256 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COMT	NM_000754.3			NP_000745.1
	XM_017028594.1			XP_016884083.1
	XM_017028595.1			XP_016884084.1
	AK130031.1
	AK290440.1
	BC000419.2			AAH00419.2
	BC005867.2			AAH05867.1
	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
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	MIR4761 RTN4R RANBP1 C22orf29 TBX1 GNB1L ARVCF DGCR6L LOC101927859 COMT TXNRD2 UFD1L SEPT5-GP1BB TRMT2A LINC00895 MIR1306 CCDC188 MIR6816 MIR1286 DGCR8 CDC45 LINC00896 SEPT5 GP1BB LOC440792 LOC284865 ZDHHC8 MIR3618 MIR185 TANGO2 CLDN5
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR4761 RTN4R RANBP1 C22orf29 TBX1 GNB1L ARVCF DGCR6L COMT TXNRD2 SEPT5-GP1BB TRMT2A MIR1306 CCDC188 MIR6816 MIR1286 DGCR8 LINC00896 SEPT5 GP1BB LOC440792 LOC284865 ZDHHC8 MIR3618 MIR185 TANGO2
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR4761 RTN4R RANBP1 C22orf29 TBX1 GNB1L ARVCF DGCR6L COMT TXNRD2 SEPT5-GP1BB TRMT2A MIR1306 CCDC188 MIR6816 MIR1286 DGCR8 LINC00896 SEPT5 GP1BB LOC440792 LOC284865 ZDHHC8 MIR3618 MIR185 TANGO2
nsv588238	Chr.22:19911363 - 19950115 on Build GRCh38	Loss	COMT TXNRD2
esv3647280	Chr.22:19901541 - 19962814 on Build GRCh38	Gain	COMT TXNRD2
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	MIR4761 ARVCF MIR185 COMT TANGO2 TXNRD2
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	MIR4761 DGCR8 ARVCF MIR185 COMT TANGO2 TXNRD2
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR6816 MIR4761 MIR1286 RTN4R DGCR8 RANBP1 C22orf29 TBX1 LINC00896 GNB1L ARVCF DGCR6L LOC440792 LOC284865 COMT TXNRD2 ZDHHC8 TRMT2A MIR3618 MIR185 MIR1306 TANGO2 CCDC188
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	MIR4761 DGCR6 LOC100996401 DGCR10 C22orf29 TBX1 PI4KAP1 GNB1L RIMBP3 PRODH COMT DGCR11 TXNRD2 C22orf39 UFD1L LINC01311 SEPT5-GP1BB DGCR9 LOC100996432 LINC00895 GSC2 MRPL40 LOC102725072 SLC25A1 CDC45 SEPT5 TMEM191B DGCR14 GP1BB USP18 CLTCL1 FAM230A DGCR5 HIRA LOC729461 DGCR2 LOC100996415 GGT3P LOC642643 TSSK2 CLDN5

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