Hs04032748_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49774467 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP2A1	NM_014203.2			NP_055018.2
	NM_130787.2			NP_570603.2
	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	NUCB1 SLC17A7 PNKP SNRNP70 SNAR-A7 NUCB1-AS1 DKKL1 CARD8 FCGRT SNAR-B2 CGB5 FUT1 TULP2 PLA2G4C SNAR-C2 CYTH2 MIR6799 SNAR-A2 LOC100287477 SNAR-C4 SCAF1 PRRG2 KCNA7 LHB SNAR-A11 CGB1 FGF21 MAMSTR TEAD2 SNAR-C3 PTOV1-AS2 LOC101059948 SNAR-A6 SEC1P ZNF114 BSPH1 CCDC114 SNAR-A4 GFY PIH1D1 SNORD34 SNAR-A1 ELSPBP1 LOC105372430 SNORD32A CGB8 RUVBL2 TRPM4 PRR12 PTOV1-AS1 SNAR-A13 SNAR-A12 SIGLEC16 SPHK2 FUZ TSKS CGB2 CCDC155 AP2A1 SYNGR4 MIR150 BAX SNAR-A10 SNAR-A5 FLJ26850 SNORD33 LMTK3 NUP62 SIGLEC11 RPL13A NOSIP RPS11 C19orf73 CA11 MIR6798 C19orf68 FUT2 ALDH16A1 CGB3 CABP5 ZNF473 SNAR-D RRAS PTH2 PLEKHA4 RASIP1 NTF4 SNAR-G1 FTL MIR6800 CARD8-AS1 RCN3 IRF3 RPL18 SNORD35B CD37 TBC1D17 DHDH SNAR-A3 ADM5 SNORD35A SNAR-B1 FAM83E LIN7B BCAT2 DBP SPACA4 ATF5 SNAR-G2 CPT1C SNAR-A14 GRWD1 FLT3LG KCNJ14 MIR4751 TMEM143 SLC6A16 PPFIA3 EMP3 SNAR-A9 LIG1 MED25 MIR4750 IL4I1 SULT2B1 HRC PPP1R15A SNAR-C1 LOC105447645 SNAR-C5 MIR5088 NTN5 CGB7 HSD17B14 VRK3 GRIN2D MIR4749 LOC101928295 PLA2G4C-AS1 SNAR-A8 PRMT1 GYS1 PTOV1 BCL2L12 AKT1S1 IZUMO1 KDELR1 MIR4324
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	SCAF1 MIR5088 MED25 RRAS PRR12 PTOV1-AS1 CPT1C MIR4749 PTOV1-AS2 MIR6800 IRF3 FUZ PRMT1 TSKS PTOV1 BCL2L12 AP2A1 MIR6799 ADM5
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	MED25 NUP62 MIR4750 ATF5 PTOV1-AS1 PNKP MIR4749 IL4I1 PTOV1-AS2 MIR6800 FUZ TSKS TBC1D17 PTOV1 AP2A1 MIR4751 AKT1S1 MIR6799
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	MED25 RRAS PRR12 MIR4750 PTOV1-AS1 PNKP IL4I1 MIR6800 IRF3 FUZ TSKS TBC1D17 AP2A1 MIR6799 ADM5 SCAF1 MIR5088 PRRG2 NUP62 ATF5 CPT1C NOSIP MIR4749 PTOV1-AS2 PRMT1 PTOV1 BCL2L12 MIR4751 AKT1S1
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	MED25 SNORD32A RRAS PRR12 PTOV1-AS1 MIR6800 RCN3 FCGRT IRF3 FUZ SNORD35B TSKS AP2A1 MIR6799 ADM5 SNORD35A MIR150 SCAF1 MIR5088 PRRG2 SNORD33 RPL13A CPT1C NOSIP RPS11 PRMT1 BCL2L12 SNORD34

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