Hs02368057_cn

• Gene Symbol: P2RX6
• Assay Reference Genome Location: Chr.22:21013854 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 9127
• Gene Name: purinergic receptor P2X 6
• Gene Aliases: P2RXL1, P2X6, P2XM
• Location: Chr.22:21009699-21028013 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
P2RX6	XM_017029075.1			XP_016884564.1

Target Gene Details

• Entrez Gene ID: 113691
• Gene Name: tubulin alpha 3f pseudogene
• Gene Aliases: -
• Location: Chr.22:21008203-21014287 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TUBA3FP	NR_003608.1	1	434
	AK057257.1	1	386
	AK315686.1	1	382
	BI668929.1	1	442
	CN368433.1	1	411

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv7994n54	Chr.22:20559470 - 21111491 on Build GRCh38	Gain	TMEM191A THAP7 SLC7A4 P2RX6P BCRP2 TUBA3FP MED15 AIFM3 SNAP29 LRRC74B LZTR1 CRKL P2RX6 SERPIND1 SMPD4P1 PI4KA THAP7-AS1 LOC101928891 MIR649 POM121L4P
nsv1065617	Chr.22:20705383 - 21111546 on Build GRCh38	Gain	THAP7 SLC7A4 P2RX6P BCRP2 TUBA3FP AIFM3 SNAP29 LRRC74B LZTR1 CRKL P2RX6 SERPIND1 PI4KA THAP7-AS1 LOC101928891 MIR649
esv3893441	Chr.22:20733858 - 21135629 on Build GRCh38	Gain+Loss	THAP7 SLC7A4 P2RX6P BCRP2 TUBA3FP AIFM3 SNAP29 LRRC74B LZTR1 CRKL P2RX6 SERPIND1 PI4KA THAP7-AS1 LOC101928891 MIR649
nsv471185	Chr.22:20977267 - 21033678 on Build GRCh38	Loss	LZTR1 THAP7 SLC7A4 P2RX6 TUBA3FP AIFM3 THAP7-AS1
nsv834142	Chr.22:20979844 - 21170235 on Build GRCh38	Gain	LRRC74B LZTR1 THAP7 SLC7A4 P2RX6 P2RX6P BCRP2 TUBA3FP AIFM3 THAP7-AS1 MIR649 FAM230B
nsv834141	Chr.22:20859455 - 21051952 on Build GRCh38	Loss	THAP7 SLC7A4 P2RX6P TUBA3FP AIFM3 SNAP29 LRRC74B LZTR1 CRKL P2RX6 THAP7-AS1 LOC101928891 MIR649
nsv828961	Chr.22:20980653 - 21023359 on Build GRCh38	Gain	LZTR1 THAP7 P2RX6 TUBA3FP AIFM3 THAP7-AS1
esv2763693	Chr.22:20581182 - 21111546 on Build GRCh38	Gain	TMEM191A THAP7 SLC7A4 P2RX6P BCRP2 TUBA3FP MED15 AIFM3 SNAP29 LRRC74B LZTR1 CRKL P2RX6 SERPIND1 SMPD4P1 PI4KA THAP7-AS1 LOC101928891 MIR649 POM121L4P
nsv3563	Chr.22:21012779 - 21057225 on Build GRCh38	Deletion	LRRC74B SLC7A4 P2RX6 P2RX6P TUBA3FP MIR649
esv3647305	Chr.22:20902577 - 21081487 on Build GRCh38	Gain	LRRC74B LZTR1 THAP7 CRKL SLC7A4 P2RX6 P2RX6P TUBA3FP AIFM3 THAP7-AS1 LOC101928891 MIR649
nsv1062280	Chr.22:20963144 - 21028993 on Build GRCh38	Gain	LZTR1 THAP7 SLC7A4 P2RX6 TUBA3FP AIFM3 THAP7-AS1 LOC101928891
esv3647308	Chr.22:21008293 - 21023987 on Build GRCh38	Loss	P2RX6 TUBA3FP THAP7-AS1
nsv588305	Chr.22:20721841 - 21108064 on Build GRCh38	Loss	THAP7 SLC7A4 P2RX6P BCRP2 TUBA3FP AIFM3 SNAP29 LRRC74B LZTR1 CRKL P2RX6 SERPIND1 PI4KA THAP7-AS1 LOC101928891 MIR649
esv2678175	Chr.22:20691629 - 21284480 on Build GRCh38	Deletion	TMEM191A THAP7 SLC7A4 P2RX6P BCRP2 TUBA3FP AIFM3 SNAP29 FAM230B GGT2 LRRC74B LZTR1 CRKL P2RX6 SERPIND1 POM121L8P PI4KA THAP7-AS1 LOC101928891 MIR649 POM121L4P
nsv436864	Chr.22:20346736 - 21559130 on Build GRCh38	Insertion	TMEM191A THAP7 RIMBP3B SLC7A4 TUBA3FP USP41 SNAP29 FAM230B LRRC74B LZTR1 RIMBP3C P2RX6 SERPIND1 UBE2L3 POM121L8P ZNF74 LOC100996335 LOC101928891 MIR649 HIC2 P2RX6P BCRP2 MED15 AIFM3 TMEM191C GGT2 LOC101927859 CRKL SCARF2 SMPD4P1 PI4KA THAP7-AS1 KLHL22 PI4KAP2 POM121L4P
dgv4483n100	Chr.22:20362634 - 21212930 on Build GRCh38	Gain	TMEM191A THAP7 SLC7A4 TUBA3FP USP41 SNAP29 FAM230B LRRC74B LZTR1 P2RX6 SERPIND1 ZNF74 LOC101928891 MIR649 P2RX6P BCRP2 MED15 AIFM3 GGT2 CRKL SCARF2 SMPD4P1 PI4KA THAP7-AS1 KLHL22 POM121L4P
esv3647307	Chr.22:21006311 - 21015449 on Build GRCh38	Loss	P2RX6 TUBA3FP THAP7-AS1
nsv523162	Chr.22:20389246 - 21108064 on Build GRCh38	Loss	TMEM191A THAP7 SLC7A4 P2RX6P BCRP2 TUBA3FP MED15 AIFM3 USP41 SNAP29 LRRC74B LZTR1 CRKL P2RX6 SCARF2 SERPIND1 SMPD4P1 ZNF74 PI4KA THAP7-AS1 LOC101928891 KLHL22 MIR649 POM121L4P
nsv828960	Chr.22:20953775 - 21057148 on Build GRCh38	Loss	LRRC74B LZTR1 THAP7 SLC7A4 P2RX6 P2RX6P TUBA3FP AIFM3 THAP7-AS1 LOC101928891 MIR649

More Information

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

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

transport
muscle contraction
signal transduction
blood coagulation
response to ATP
purinergic nucleotide receptor signaling pathway
protein homooligomerization
protein heterooligomerization
cation transmembrane transport

Function(s)

purinergic nucleotide receptor activity
transmembrane signaling receptor activity
extracellular ATP-gated cation channel activity
ATP binding
channel activity
identical protein binding