Hs03826369_cn

• Gene Symbol: P2RX7
• Assay Reference Genome Location: Chr.12:121146710 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 5027
• Gene Name: purinergic receptor P2X 7
• Gene Aliases: P2X7
• Location: Chr.12:121132819-121189478 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
P2RX7	NM_002562.5			NP_002553.3
	NR_033948.1
	NR_033949.1
	NR_033950.1
	NR_033951.1
	NR_033952.1
	NR_033953.1
	NR_033954.1
	NR_033955.1
	NR_033956.1
	XM_011538419.2			XP_011536721.1
	XM_011538420.2			XP_011536722.1
	XM_017019364.1			XP_016874853.1
	XM_017019365.1			XP_016874854.1
	XM_017019366.1			XP_016874855.1
	XM_017019367.1			XP_016874856.1
	AB209709.1			BAD92946.1
	AK090866.1
	AK225163.1
	AK290405.1
	AK294126.1
	AK296432.1
	AY847298.1			AAX82087.1
	AY847299.1			AAX82088.1
	AY847300.1			AAX82089.1
	AY847301.1			AAX82090.1
	AY847302.1			AAX82091.1
	AY847303.1			AAX82092.1
	AY847304.1			AAX82093.1
	BC007679.2			AAH07679.1
	BC011913.2			AAH11913.1
	BC121157.1
	BI598073.1
	DA274887.1
	DA302256.1
	DQ399293.1
	GQ180122.1
	Y09561.1			CAA70755.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv560455	Chr.12:121087788 - 121363295 on Build GRCh38	Gain	P2RX7 P2RX4 ANAPC5 CAMKK2
dgv307e214	Chr.12:121063111 - 121157572 on Build GRCh38	Gain	P2RX7
nsv1054878	Chr.12:121082077 - 121328424 on Build GRCh38	Gain	P2RX7 P2RX4 ANAPC5 CAMKK2
nsv560454	Chr.12:121019270 - 121307939 on Build GRCh38	Loss	P2RX7 P2RX4 OASL CAMKK2
nsv521928	Chr.12:120603925 - 121356945 on Build GRCh38	Gain	CABP1 P2RX7 ACADS SPPL3 C12orf43 P2RX4 OASL MLEC UNC119B XLOC_009911 HNF1A HNF1A-AS1 MIR4700 ANAPC5 CAMKK2
esv2759917	Chr.12:120978042 - 121147010 on Build GRCh38	Loss	P2RX7 C12orf43 HNF1A OASL
nsv832531	Chr.12:121002692 - 121166429 on Build GRCh38	Gain	P2RX7 C12orf43 OASL

More Information

Additional Information:

For this assay, SNP(s) [rs77372307] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

activation of MAPK activity
cell morphogenesis
phagolysosome assembly
positive regulation of T cell mediated cytotoxicity
regulation of sodium ion transport
protein phosphorylation
membrane protein ectodomain proteolysis
phospholipid transfer to membrane
membrane budding
inflammatory response
mitochondrion organization
cell surface receptor signaling pathway
blood coagulation
response to mechanical stimulus
response to zinc ion
positive regulation of calcium ion transport into cytosol
positive regulation of gene expression
positive regulation of glutamate secretion
positive regulation of gamma-aminobutyric acid secretion
synaptic vesicle exocytosis
protein processing
phospholipid scrambling
sensory perception of pain
cytolysis
positive regulation of bone mineralization
cellular response to extracellular stimulus
bleb assembly
positive regulation of prostaglandin secretion
response to lipopolysaccharide
positive regulation of interleukin-6 production
collagen metabolic process
response to ATP
response to fluid shear stress
positive regulation of ion transmembrane transport
purinergic nucleotide receptor signaling pathway
T cell proliferation
response to drug
T cell homeostasis
NAD transport
negative regulation of MAPK cascade
multicellular organismal protein catabolic process
phospholipid translocation
negative regulation of bone resorption
negative regulation of cell volume
positive regulation of glycolytic process
positive regulation of cytolysis
ceramide biosynthetic process
pore complex assembly
skeletal system morphogenesis
homeostasis of number of cells within a tissue
positive regulation of interleukin-1 alpha secretion
positive regulation of interleukin-1 beta secretion
defense response to Gram-positive bacterium
release of sequestered calcium ion into cytosol
protein oligomerization
positive regulation of cytoskeleton organization
response to calcium ion
response to electrical stimulus
regulation of killing of cells of other organism
membrane depolarization
positive regulation of mitochondrial depolarization
positive regulation of lymphocyte apoptotic process
cellular response to dsRNA
reactive oxygen species metabolic process
apoptotic signaling pathway
extrinsic apoptotic signaling pathway
positive regulation of bleb assembly

Function(s)

lipopolysaccharide binding
purinergic nucleotide receptor activity
extracellular ATP-gated cation channel activity
receptor binding
protein binding
ATP binding
protein homodimerization activity