Hs02410660_cn

• Gene Symbol: PI4KA
• Assay Reference Genome Location: Chr.22:20783983 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 Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SERPIND1	NM_000185.3			NP_000176.2
	AK225292.1
	AK314200.1
	BC035028.2			AAH35028.1
	CR456573.1			CAG30459.1
	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	BCRP2 POM121L8P THAP7 FAM230B TMEM191A PI4KA CRKL MIR649 SLC7A4 TUBA3FP GGT2 LZTR1 POM121L4P SNAP29 LOC101928891 P2RX6 SERPIND1 LRRC74B P2RX6P THAP7-AS1 AIFM3
esv3893441	Chr.22:20733858 - 21135629 on Build GRCh38	Gain+Loss	BCRP2 THAP7 PI4KA CRKL MIR649 SLC7A4 TUBA3FP LZTR1 SNAP29 LOC101928891 P2RX6 SERPIND1 LRRC74B P2RX6P THAP7-AS1 AIFM3
nsv1065617	Chr.22:20705383 - 21111546 on Build GRCh38	Gain	BCRP2 THAP7 PI4KA CRKL MIR649 SLC7A4 TUBA3FP LZTR1 SNAP29 LOC101928891 P2RX6 SERPIND1 LRRC74B P2RX6P THAP7-AS1 AIFM3
dgv7994n54	Chr.22:20559470 - 21111491 on Build GRCh38	Gain	BCRP2 MED15 THAP7 TMEM191A PI4KA CRKL MIR649 SLC7A4 TUBA3FP LZTR1 POM121L4P SNAP29 LOC101928891 SMPD4P1 P2RX6 SERPIND1 LRRC74B P2RX6P THAP7-AS1 AIFM3
dgv7993n54	Chr.22:20346736 - 21111491 on Build GRCh38	Gain	BCRP2 MED15 THAP7 CRKL TUBA3FP LZTR1 POM121L4P SNAP29 ZNF74 SMPD4P1 P2RX6 SERPIND1 USP41 LOC101927859 SCARF2 AIFM3 TMEM191A PI4KA MIR649 SLC7A4 KLHL22 LOC101928891 LRRC74B P2RX6P THAP7-AS1
nsv834140	Chr.22:20742586 - 20951488 on Build GRCh38	Loss	SNAP29 PI4KA SERPIND1 CRKL
esv2763693	Chr.22:20581182 - 21111546 on Build GRCh38	Gain	BCRP2 MED15 THAP7 TMEM191A PI4KA CRKL MIR649 SLC7A4 TUBA3FP LZTR1 POM121L4P SNAP29 LOC101928891 SMPD4P1 P2RX6 SERPIND1 LRRC74B P2RX6P THAP7-AS1 AIFM3
esv3647303	Chr.22:20724447 - 20805193 on Build GRCh38	Gain	PI4KA SERPIND1
dgv4483n100	Chr.22:20362634 - 21212930 on Build GRCh38	Gain	BCRP2 MED15 THAP7 CRKL TUBA3FP LZTR1 POM121L4P SNAP29 ZNF74 SMPD4P1 P2RX6 SERPIND1 USP41 SCARF2 AIFM3 FAM230B TMEM191A PI4KA MIR649 SLC7A4 GGT2 KLHL22 LOC101928891 LRRC74B P2RX6P THAP7-AS1
nsv588305	Chr.22:20721841 - 21108064 on Build GRCh38	Loss	BCRP2 THAP7 PI4KA CRKL MIR649 SLC7A4 TUBA3FP LZTR1 SNAP29 LOC101928891 P2RX6 SERPIND1 LRRC74B P2RX6P THAP7-AS1 AIFM3
nsv523162	Chr.22:20389246 - 21108064 on Build GRCh38	Loss	BCRP2 MED15 THAP7 TMEM191A PI4KA CRKL MIR649 SLC7A4 TUBA3FP LZTR1 KLHL22 POM121L4P SNAP29 LOC101928891 ZNF74 SMPD4P1 P2RX6 SERPIND1 LRRC74B USP41 P2RX6P THAP7-AS1 SCARF2 AIFM3

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