Hs04020539_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49795261 on build GRCh38
• Cytoband: 19q13.33

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 7

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
	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	MED25 KDELR1 PLA2G4C SNAR-A11 RASIP1 ZNF473 MIR4750 SNAR-A2 CABP5 FLJ26850 AP2A1 MIR4749 SNAR-C2 MIR6799 LOC100287477 MIR5088 CYTH2 SNAR-C1 SNAR-A1 AKT1S1 PTOV1 FAM83E CGB2 SNAR-A5 MIR4324 HRC TEAD2 PRMT1 MIR6798 HSD17B14 ATF5 BCAT2 TULP2 FLT3LG SNORD34 DKKL1 SNAR-G1 TRPM4 SNAR-A14 SIGLEC11 KCNA7 PIH1D1 FTL SNAR-A12 TSKS PRRG2 SNAR-C3 SNAR-B1 IZUMO1 SULT2B1 PLA2G4C-AS1 LOC105447645 NOSIP RPL18 FUT2 BSPH1 CGB5 SLC17A7 GRIN2D PTOV1-AS1 LMTK3 SNORD35A FCGRT ADM5 MAMSTR SNAR-A6 EMP3 SNAR-A4 NTN5 GFY SCAF1 PLEKHA4 SNAR-B2 SLC6A16 SNAR-D C19orf68 ALDH16A1 TBC1D17 SNAR-A7 RRAS PPFIA3 CARD8 FUZ TMEM143 C19orf73 PTH2 ELSPBP1 NUCB1-AS1 CGB1 CGB8 PTOV1-AS2 RCN3 SEC1P LIN7B IRF3 BAX PNKP NTF4 SNAR-C5 SNAR-G2 CA11 CGB7 LHB VRK3 CCDC155 SNAR-A10 SPACA4 FGF21 DHDH CPT1C SNORD32A LOC101059948 SNAR-C4 RPS11 SNAR-A8 BCL2L12 SPHK2 NUP62 CD37 NUCB1 CGB3 CARD8-AS1 SNAR-A3 MIR4751 ZNF114 MIR150 DBP SNAR-A9 LIG1 KCNJ14 SNRNP70 SNORD35B PRR12 FUT1 LOC101928295 SNAR-A13 PPP1R15A SIGLEC16 GRWD1 SYNGR4 SNORD33 LOC105372430 MIR6800 IL4I1 CCDC114 RPL13A RUVBL2 GYS1
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	CPT1C MED25 PTOV1 IRF3 PTOV1-AS1 SCAF1 PRR12 BCL2L12 ADM5 AP2A1 MIR6800 RRAS TSKS PRMT1 MIR4749 FUZ MIR6799 MIR5088 PTOV1-AS2
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	MED25 PTOV1 PTOV1-AS1 PNKP NUP62 MIR4750 TBC1D17 AP2A1 MIR6800 IL4I1 MIR4751 TSKS MIR4749 FUZ MIR6799 ATF5 PTOV1-AS2 AKT1S1
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	CPT1C MED25 SCAF1 BCL2L12 NUP62 MIR4750 TBC1D17 AP2A1 RRAS MIR4751 TSKS MIR4749 PRRG2 FUZ MIR6799 MIR5088 PTOV1-AS2 NOSIP AKT1S1 PTOV1 IRF3 PTOV1-AS1 PRR12 PNKP ADM5 MIR6800 IL4I1 PRMT1 ATF5
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	CPT1C MED25 SNORD34 SCAF1 SNORD32A RPS11 BCL2L12 AP2A1 RRAS TSKS MIR150 PRRG2 FUZ MIR6799 MIR5088 SNORD35B NOSIP RCN3 IRF3 PTOV1-AS1 PRR12 SNORD35A FCGRT SNORD33 ADM5 MIR6800 PRMT1 RPL13A

More Information

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

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
Golgi to endosome transport
endocytosis
microtubule-based movement
antigen processing and presentation of exogenous peptide antigen via MHC class II
negative regulation of epidermal growth factor receptor signaling pathway
ephrin receptor signaling pathway
regulation of defense response to virus by virus
Wnt signaling pathway, planar cell polarity pathway
clathrin-mediated endocytosis
negative regulation of hyaluronan biosynthetic process

Function(s)

protein binding
protein C-terminus binding
protein transporter activity
protein kinase binding
protein complex binding
clathrin adaptor activity