Hs01232502_cn

• Gene Symbol: PI4KA
• Assay Reference Genome Location: Chr.22:20787672 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 5297
• Gene Name: phosphatidylinositol 4-kinase alpha
• Gene Aliases: PI4K-ALPHA, PIK4CA, PMGYCHA, pi4K230
• Location: Chr.22:20707691-20858812 on Build GRCh38
• Assay Gene Location: Within Intron 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PI4KA	NM_058004.3			NP_477352.3
	XM_005261634.1			XP_005261691.1
	XM_005261635.1			XP_005261692.1
	XM_011530226.1			XP_011528528.1
	XM_011530228.2			XP_011528530.1
	XM_017028829.1			XP_016884318.1
	XM_017028830.1			XP_016884319.1
	AB210002.1
	AF012872.1			AAD13352.1
	AK302424.1

Target Gene Details

• Entrez Gene ID: 3053
• Gene Name: serpin family D member 1
• Gene Aliases: D22S673, HC2, HCF2, HCII, HLS2, LS2, THPH10
• Location: Chr.22:20774095-20787720 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SERPIND1	NM_000185.3			NP_000176.2
	AK225292.1
	BC035028.2			AAH35028.1
	M12849.1			AAA52642.1
	X03498.1			CAA27218.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2678175	Chr.22:20691629 - 21284480 on Build GRCh38	Deletion	AIFM3 FAM230B SNAP29 LZTR1 TUBA3FP THAP7-AS1 SLC7A4 LRRC74B THAP7 TMEM191A PI4KA LOC101928891 MIR649 POM121L4P P2RX6P BCRP2 SERPIND1 GGT2 CRKL POM121L8P P2RX6
esv3893441	Chr.22:20733858 - 21135629 on Build GRCh38	Gain+Loss	AIFM3 SNAP29 LZTR1 TUBA3FP THAP7-AS1 SLC7A4 LRRC74B THAP7 PI4KA LOC101928891 MIR649 P2RX6P BCRP2 SERPIND1 CRKL P2RX6
nsv1065617	Chr.22:20705383 - 21111546 on Build GRCh38	Gain	AIFM3 SNAP29 LZTR1 TUBA3FP THAP7-AS1 SLC7A4 LRRC74B THAP7 PI4KA LOC101928891 MIR649 P2RX6P BCRP2 SERPIND1 CRKL P2RX6
dgv7994n54	Chr.22:20559470 - 21111491 on Build GRCh38	Gain	AIFM3 SNAP29 LZTR1 TUBA3FP THAP7-AS1 SLC7A4 SMPD4P1 LRRC74B THAP7 TMEM191A PI4KA LOC101928891 MIR649 POM121L4P P2RX6P BCRP2 SERPIND1 CRKL P2RX6 MED15
dgv7993n54	Chr.22:20346736 - 21111491 on Build GRCh38	Gain	AIFM3 SLC7A4 THAP7 LOC101928891 POM121L4P CRKL MED15 SNAP29 USP41 LZTR1 TUBA3FP THAP7-AS1 SMPD4P1 LRRC74B LOC101927859 ZNF74 TMEM191A PI4KA MIR649 P2RX6P BCRP2 SERPIND1 SCARF2 KLHL22 P2RX6
nsv834140	Chr.22:20742586 - 20951488 on Build GRCh38	Loss	PI4KA SNAP29 SERPIND1 CRKL
esv2763693	Chr.22:20581182 - 21111546 on Build GRCh38	Gain	AIFM3 SNAP29 LZTR1 TUBA3FP THAP7-AS1 SLC7A4 SMPD4P1 LRRC74B THAP7 TMEM191A PI4KA LOC101928891 MIR649 POM121L4P P2RX6P BCRP2 SERPIND1 CRKL P2RX6 MED15
esv3647303	Chr.22:20724447 - 20805193 on Build GRCh38	Gain	PI4KA SERPIND1
dgv4483n100	Chr.22:20362634 - 21212930 on Build GRCh38	Gain	AIFM3 SLC7A4 THAP7 LOC101928891 POM121L4P CRKL MED15 FAM230B SNAP29 USP41 LZTR1 TUBA3FP THAP7-AS1 SMPD4P1 LRRC74B ZNF74 TMEM191A PI4KA MIR649 P2RX6P BCRP2 SERPIND1 GGT2 SCARF2 KLHL22 P2RX6
nsv588305	Chr.22:20721841 - 21108064 on Build GRCh38	Loss	AIFM3 SNAP29 LZTR1 TUBA3FP THAP7-AS1 SLC7A4 LRRC74B THAP7 PI4KA LOC101928891 MIR649 P2RX6P BCRP2 SERPIND1 CRKL P2RX6
nsv523162	Chr.22:20389246 - 21108064 on Build GRCh38	Loss	AIFM3 SNAP29 USP41 LZTR1 TUBA3FP THAP7-AS1 SLC7A4 SMPD4P1 LRRC74B THAP7 ZNF74 TMEM191A PI4KA LOC101928891 MIR649 POM121L4P P2RX6P BCRP2 SERPIND1 CRKL SCARF2 KLHL22 P2RX6 MED15

More Information

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

Panther Classification:

Molecular Function -

kinase, protease inhibitor

Gene Ontology Categories:

Process(es)

phosphatidylinositol biosynthetic process
signal transduction
phosphatidylinositol phosphorylation
phosphatidylinositol-mediated signaling
cell-cell adhesion
chemotaxis
blood coagulation
bioluminescence
negative regulation of endopeptidase activity

Function(s)

1-phosphatidylinositol 4-kinase activity
protein binding
ATP binding
cadherin binding involved in cell-cell adhesion
endopeptidase inhibitor activity
serine-type endopeptidase inhibitor activity
heparin binding