Assay Details
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: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SERPIND1 | NM_000185.3 | 5 | 1765 | NP_000176.2 |
AK225292.1 | 5 | 1748 | ||
BC035028.2 | 5 | 1747 | AAH35028.1 | |
CR456573.1 | CAG30459.1 | |||
M12849.1 | 4 | 1726 | AAA52642.1 | |
X03498.1 | 4 | 1643 | 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 | TUBA3FP SERPIND1 PI4KA TMEM191A SLC7A4 THAP7-AS1 POM121L8P LZTR1 P2RX6 GGT2 P2RX6P FAM230B BCRP2 SNAP29 AIFM3 CRKL MIR649 POM121L4P LOC101928891 THAP7 LRRC74B |
esv3893441 | Chr.22:20733858 - 21135629 on Build GRCh38 | Gain+Loss | TUBA3FP SERPIND1 PI4KA SLC7A4 THAP7-AS1 LZTR1 P2RX6 P2RX6P BCRP2 SNAP29 AIFM3 CRKL MIR649 LOC101928891 THAP7 LRRC74B |
nsv1065617 | Chr.22:20705383 - 21111546 on Build GRCh38 | Gain | TUBA3FP SERPIND1 PI4KA SLC7A4 THAP7-AS1 LZTR1 P2RX6 P2RX6P BCRP2 SNAP29 AIFM3 CRKL MIR649 LOC101928891 THAP7 LRRC74B |
dgv7994n54 | Chr.22:20559470 - 21111491 on Build GRCh38 | Gain | TUBA3FP SERPIND1 SMPD4P1 PI4KA TMEM191A SLC7A4 THAP7-AS1 LZTR1 P2RX6 P2RX6P BCRP2 SNAP29 AIFM3 CRKL MIR649 POM121L4P LOC101928891 THAP7 LRRC74B MED15 |
dgv7993n54 | Chr.22:20346736 - 21111491 on Build GRCh38 | Gain | USP41 TMEM191A SLC7A4 THAP7-AS1 SCARF2 SNAP29 AIFM3 CRKL POM121L4P THAP7 LOC101927859 TUBA3FP ZNF74 SERPIND1 SMPD4P1 PI4KA LZTR1 P2RX6 P2RX6P BCRP2 KLHL22 MIR649 LOC101928891 LRRC74B MED15 |
nsv834140 | Chr.22:20742586 - 20951488 on Build GRCh38 | Loss | SERPIND1 SNAP29 PI4KA CRKL |
esv2763693 | Chr.22:20581182 - 21111546 on Build GRCh38 | Gain | TUBA3FP SERPIND1 SMPD4P1 PI4KA TMEM191A SLC7A4 THAP7-AS1 LZTR1 P2RX6 P2RX6P BCRP2 SNAP29 AIFM3 CRKL MIR649 POM121L4P LOC101928891 THAP7 LRRC74B MED15 |
esv3647303 | Chr.22:20724447 - 20805193 on Build GRCh38 | Gain | SERPIND1 PI4KA |
dgv4483n100 | Chr.22:20362634 - 21212930 on Build GRCh38 | Gain | USP41 TMEM191A SLC7A4 THAP7-AS1 GGT2 SCARF2 FAM230B SNAP29 AIFM3 CRKL POM121L4P THAP7 TUBA3FP ZNF74 SERPIND1 SMPD4P1 PI4KA LZTR1 P2RX6 P2RX6P BCRP2 KLHL22 MIR649 LOC101928891 LRRC74B MED15 |
nsv588305 | Chr.22:20721841 - 21108064 on Build GRCh38 | Loss | TUBA3FP SERPIND1 PI4KA SLC7A4 THAP7-AS1 LZTR1 P2RX6 P2RX6P BCRP2 SNAP29 AIFM3 CRKL MIR649 LOC101928891 THAP7 LRRC74B |
nsv523162 | Chr.22:20389246 - 21108064 on Build GRCh38 | Loss | TUBA3FP ZNF74 USP41 SERPIND1 SMPD4P1 PI4KA TMEM191A SLC7A4 THAP7-AS1 LZTR1 P2RX6 SCARF2 P2RX6P BCRP2 SNAP29 KLHL22 AIFM3 CRKL MIR649 POM121L4P LOC101928891 THAP7 LRRC74B MED15 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |