Assay Details
Target Gene Details
Entrez Gene ID: | 160 |
Gene Name: | adaptor related protein complex 2 alpha 1 subunit |
Gene Aliases: |
ADTAA, AP2-ALPHA, CLAPA1 |
Location: |
Chr.19:49766923-49807114 on Build GRCh38 |
Assay Gene Location: | Within Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AP2A1 | NM_014203.2 | NP_055018.2 | ||
NM_130787.2 | NP_570603.2 | |||
XM_011526556.2 | XP_011524858.1 | |||
XM_011526557.2 | XP_011524859.1 | |||
AK124343.1 | 8 | 1700 | ||
AK302005.1 | ||||
AL136925.1 | CAB66859.1 | |||
BC014214.2 | AAH14214.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | CABP5 PIH1D1 SLC6A16 SNAR-C1 RPL13A SNAR-C4 SNAR-A5 SNAR-B2 FCGRT PTOV1 FLJ26850 DBP PLA2G4C NTN5 SNAR-C2 SNAR-A9 SNAR-A8 RPL18 CGB7 PTH2 NUCB1-AS1 SNAR-A1 SNORD32A MAMSTR TULP2 PRRG2 PPP1R15A NUCB1 SNAR-C5 GFY PRMT1 MIR4749 FUT2 SEC1P FAM83E IZUMO1 TEAD2 SNAR-A6 RASIP1 AKT1S1 TRPM4 MIR5088 SNAR-D SNORD34 BSPH1 RCN3 SNAR-G2 BAX MIR4324 DHDH SNAR-A3 SIGLEC16 SNAR-A14 SNAR-A2 HSD17B14 LOC101059948 KCNA7 TSKS FTL BCAT2 KDELR1 FUT1 SNAR-A10 SNORD35B FLT3LG CARD8-AS1 PTOV1-AS2 FUZ CCDC155 SIGLEC11 ZNF114 SNORD33 TMEM143 MIR150 SYNGR4 MIR4751 SNORD35A FGF21 C19orf68 SNRNP70 GRIN2D SNAR-G1 PTOV1-AS1 RPS11 CGB5 SPACA4 ATF5 ZNF473 VRK3 SNAR-A12 ADM5 NTF4 BCL2L12 GRWD1 CYTH2 MIR6800 PNKP PRR12 LOC100287477 RRAS NUP62 KCNJ14 LOC105372430 IL4I1 SULT2B1 CGB2 PLA2G4C-AS1 PPFIA3 SNAR-C3 MIR4750 AP2A1 SNAR-B1 SNAR-A4 EMP3 MED25 HRC CGB3 LOC105447645 LIG1 CGB1 SPHK2 CA11 LOC101928295 ELSPBP1 SCAF1 MIR6798 LIN7B TBC1D17 C19orf73 SNAR-A11 MIR6799 PLEKHA4 GYS1 CARD8 RUVBL2 SNAR-A13 IRF3 ALDH16A1 CGB8 NOSIP LHB CPT1C CCDC114 SNAR-A7 DKKL1 CD37 LMTK3 SLC17A7 |
nsv470150 | Chr.19:49618821 - 49856789 on Build GRCh38 | Gain | ADM5 BCL2L12 PRMT1 MIR4749 MIR6800 MED25 PRR12 MIR6799 PTOV1 PTOV1-AS1 IRF3 RRAS PTOV1-AS2 FUZ CPT1C MIR5088 SCAF1 TSKS AP2A1 |
dgv53n68 | Chr.19:49724393 - 49943224 on Build GRCh38 | Loss | MIR4751 MIR4749 MIR6800 PNKP MED25 MIR6799 PTOV1 PTOV1-AS1 PTOV1-AS2 FUZ NUP62 IL4I1 AKT1S1 ATF5 TSKS MIR4750 TBC1D17 AP2A1 |
nsv953600 | Chr.19:49555044 - 49938043 on Build GRCh38 | Deletion | MIR4751 MED25 PTOV1 PTOV1-AS1 ATF5 SCAF1 TSKS TBC1D17 PRRG2 ADM5 BCL2L12 PRMT1 MIR4749 MIR6800 PNKP PRR12 MIR6799 IRF3 RRAS PTOV1-AS2 FUZ NUP62 NOSIP IL4I1 CPT1C AKT1S1 MIR5088 MIR4750 AP2A1 |
nsv1160655 | Chr.19:49489110 - 49841830 on Build GRCh38 | Deletion | RPL13A SNORD35A MED25 FCGRT PTOV1-AS1 RPS11 SCAF1 SNORD32A TSKS PRRG2 ADM5 BCL2L12 PRMT1 MIR6800 PRR12 MIR6799 SNORD35B IRF3 RRAS FUZ NOSIP CPT1C SNORD33 MIR5088 SNORD34 RCN3 MIR150 AP2A1 |
esv3427277 | Chr.19:49796183 - 49797481 on Build GRCh38 | Duplication | AP2A1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |