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
esv3584493	Chr.22:19954404 - 19991035 on Build GRCh38	Gain	COMT MIR4761 ARVCF
nsv953026	Chr.22:19950978 - 20070877 on Build GRCh38	Deletion	COMT MIR4761 ARVCF MIR185 TANGO2
nsv1055752	Chr.22:19960814 - 20013499 on Build GRCh38	Gain	COMT MIR4761 ARVCF
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	MIR6816 ZDHHC8 CCDC188 MIR1286 ARVCF MIR185 LOC440792 LOC101927859 MIR3618 LINC00895 COMT C22orf29 MIR4761 LINC00896 TANGO2 TRMT2A GNB1L GP1BB SEPT5 TBX1 MIR1306 TXNRD2 RANBP1 DGCR8 CLDN5 SEPT5-GP1BB DGCR6L UFD1L CDC45 LOC284865 RTN4R
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR6816 ZDHHC8 CCDC188 MIR1286 ARVCF MIR185 LOC440792 MIR3618 COMT C22orf29 MIR4761 LINC00896 TANGO2 TRMT2A GNB1L GP1BB SEPT5 TBX1 MIR1306 TXNRD2 RANBP1 DGCR8 SEPT5-GP1BB DGCR6L LOC284865 RTN4R
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR6816 ZDHHC8 CCDC188 MIR1286 ARVCF MIR185 LOC440792 MIR3618 COMT C22orf29 MIR4761 LINC00896 TANGO2 TRMT2A GNB1L GP1BB SEPT5 TBX1 MIR1306 TXNRD2 RANBP1 DGCR8 SEPT5-GP1BB DGCR6L LOC284865 RTN4R
nsv517165	Chr.22:19962905 - 19999679 on Build GRCh38	Loss	COMT MIR4761 ARVCF
nsv469641	Chr.22:19891662 - 20067735 on Build GRCh38	Loss	TXNRD2 COMT MIR4761 ARVCF MIR185 TANGO2
dgv72n68	Chr.22:19891663 - 20082447 on Build GRCh38	Loss	TXNRD2 COMT MIR4761 ARVCF MIR185 TANGO2 DGCR8
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR6816 TBX1 MIR1306 ZDHHC8 TXNRD2 CCDC188 MIR1286 RANBP1 ARVCF MIR185 DGCR8 LOC440792 MIR3618 COMT C22orf29 MIR4761 DGCR6L LINC00896 LOC284865 TANGO2 TRMT2A RTN4R GNB1L

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