Hs04079583_cn

• Gene Symbol: ARVCF
• Assay Reference Genome Location: Chr.22:19969199 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 421
• Gene Name: armadillo repeat gene deleted in velocardiofacial syndrome
• Gene Aliases: -
• Location: Chr.22:19966491-20016802 on Build GRCh38
• Assay Gene Location: Within Intron 24

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ARVCF	XM_005261242.2			XP_005261299.1
	XM_006724243.2			XP_006724306.1
	XM_006724246.3			XP_006724309.1
	XM_011530179.2			XP_011528481.1
	XM_011530182.2			XP_011528484.1
	AL390148.1	1	737

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 Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COMT	NM_000754.3	6	1528	NP_000745.1
	NM_001135161.1	6	1486	NP_001128633.1
	NM_001135162.1	6	1503	NP_001128634.1
	NM_007310.2	4	1259	NP_009294.1
	AK130031.1	7	1308
	AK290440.1	6	1466

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	MIR185 ARVCF TANGO2 COMT MIR4761
esv3584493	Chr.22:19954404 - 19991035 on Build GRCh38	Gain	ARVCF COMT MIR4761
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	CDC45 LINC00896 RANBP1 ZDHHC8 MIR1306 TBX1 TRMT2A CLDN5 UFD1L C22orf29 MIR185 GP1BB MIR3618 DGCR8 GNB1L DGCR6L COMT LOC101927859 TXNRD2 MIR4761 LINC00895 LOC284865 SEPT5-GP1BB CCDC188 MIR1286 MIR6816 ARVCF LOC440792 TANGO2 SEPT5 RTN4R
nsv1064496	Chr.22:19960814 - 19991035 on Build GRCh38	Gain	ARVCF COMT MIR4761
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	LINC00896 RANBP1 ZDHHC8 MIR1306 TBX1 TRMT2A C22orf29 MIR185 GP1BB MIR3618 DGCR8 GNB1L DGCR6L COMT TXNRD2 MIR4761 LOC284865 SEPT5-GP1BB CCDC188 MIR1286 MIR6816 ARVCF LOC440792 TANGO2 SEPT5 RTN4R
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	LINC00896 RANBP1 ZDHHC8 MIR1306 TBX1 TRMT2A C22orf29 MIR185 GP1BB MIR3618 DGCR8 GNB1L DGCR6L COMT TXNRD2 MIR4761 LOC284865 SEPT5-GP1BB CCDC188 MIR1286 MIR6816 ARVCF LOC440792 TANGO2 SEPT5 RTN4R
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	MIR185 ARVCF TANGO2 COMT TXNRD2 MIR4761
nsv517165	Chr.22:19962905 - 19999679 on Build GRCh38	Loss	ARVCF COMT MIR4761
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	DGCR8 MIR185 ARVCF TANGO2 COMT TXNRD2 MIR4761
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	DGCR8 LINC00896 RANBP1 GNB1L DGCR6L ZDHHC8 MIR1306 COMT TBX1 TRMT2A TXNRD2 MIR4761 LOC284865 C22orf29 MIR185 CCDC188 MIR1286 MIR6816 ARVCF LOC440792 TANGO2 MIR3618 RTN4R

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

intermediate filament binding protein, methyltransferase

Gene Ontology Categories:

Process(es)

cell adhesion
multicellular organism development
single organismal cell-cell adhesion
calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
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)

protein binding
magnesium ion binding
methyltransferase activity
O-methyltransferase activity
catechol O-methyltransferase activity