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	CCDC188 LOC440792 TBX1 SEPT5-GP1BB ZDHHC8 RTN4R RANBP1 ARVCF GP1BB DGCR8 UFD1L MIR4761 GNB1L SEPT5 TXNRD2 CLDN5 MIR3618 CDC45 TRMT2A LOC101927859 TANGO2 MIR1286 LINC00895 COMT LINC00896 MIR1306 LOC284865 C22orf29 MIR185 MIR6816 DGCR6L
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	CCDC188 LOC440792 TBX1 SEPT5-GP1BB ZDHHC8 RTN4R RANBP1 ARVCF GP1BB DGCR8 MIR4761 GNB1L SEPT5 TXNRD2 MIR3618 TRMT2A TANGO2 MIR1286 COMT LINC00896 MIR1306 LOC284865 C22orf29 MIR185 MIR6816 DGCR6L
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	CCDC188 LOC440792 TBX1 SEPT5-GP1BB ZDHHC8 RTN4R RANBP1 ARVCF GP1BB DGCR8 MIR4761 GNB1L SEPT5 TXNRD2 MIR3618 TRMT2A TANGO2 MIR1286 COMT LINC00896 MIR1306 LOC284865 C22orf29 MIR185 MIR6816 DGCR6L
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	TXNRD2 COMT ARVCF MIR185 TANGO2 MIR4761
esv3647280	Chr.22:19901541 - 19962814 on Build GRCh38	Gain	TXNRD2 COMT
nsv588238	Chr.22:19911363 - 19950115 on Build GRCh38	Loss	TXNRD2 COMT
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	TXNRD2 COMT ARVCF DGCR8 MIR185 TANGO2 MIR4761
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	HIRA TBX1 SEPT5-GP1BB LOC102725072 C22orf39 LINC01311 GP1BB DGCR2 RIMBP3 UFD1L LOC642643 PI4KAP1 MIR4761 GNB1L FAM230A LOC100996415 SEPT5 TSSK2 TXNRD2 TMEM191B CLDN5 CDC45 DGCR10 LOC100996432 DGCR14 LOC729461 LINC00895 LOC100996401 COMT GSC2 DGCR6 DGCR5 GGT3P CLTCL1 DGCR9 MRPL40 C22orf29 USP18 PRODH SLC25A1 DGCR11
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	CCDC188 LOC440792 MIR1286 TBX1 ZDHHC8 RTN4R RANBP1 COMT ARVCF DGCR8 LINC00896 MIR1306 MIR4761 GNB1L LOC284865 C22orf29 TXNRD2 MIR185 MIR3618 MIR6816 TRMT2A DGCR6L TANGO2

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