Hs04026062_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49773172 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	CGB3 MIR4749 CD37 SNAR-A14 MED25 SNAR-A10 PRMT1 KCNA7 FAM83E SNAR-A8 SNAR-C5 SNAR-A4 PNKP LOC105372430 NOSIP SULT2B1 C19orf73 PTOV1-AS2 LOC100287477 IRF3 FLJ26850 PRRG2 AKT1S1 TMEM143 PIH1D1 SNAR-C3 FUZ SNAR-A11 SNAR-A7 ATF5 SYNGR4 SIGLEC16 SEC1P MIR6798 PTOV1-AS1 FUT2 SNORD32A GFY DHDH SNAR-A5 SNAR-A12 SNAR-C4 SNAR-C1 IZUMO1 CCDC114 PPP1R15A PLA2G4C LIG1 GRIN2D BSPH1 FUT1 SLC17A7 HSD17B14 SNAR-G2 SNAR-A3 BAX ZNF473 SPACA4 SNAR-D MIR5088 TSKS RPL13A CABP5 SNAR-B2 LOC105447645 TULP2 GRWD1 SNAR-A13 SNAR-A9 SCAF1 SNAR-G1 TEAD2 PRR12 DBP MIR4324 FTL TBC1D17 ELSPBP1 MIR6800 RPL18 SNORD34 SNORD33 CPT1C NUCB1-AS1 CCDC155 CA11 VRK3 RPS11 CGB1 LHB AP2A1 SNAR-A1 NTN5 BCAT2 SNRNP70 SNORD35B NUCB1 CARD8 PLEKHA4 CGB7 CGB2 HRC LOC101928295 NUP62 DKKL1 FCGRT SLC6A16 RCN3 CGB5 CGB8 PTH2 MIR4750 MIR6799 EMP3 IL4I1 BCL2L12 RUVBL2 TRPM4 RRAS ALDH16A1 ADM5 SIGLEC11 PLA2G4C-AS1 NTF4 SNORD35A PPFIA3 GYS1 LOC101059948 KDELR1 LIN7B C19orf68 KCNJ14 SNAR-C2 ZNF114 CARD8-AS1 FGF21 MAMSTR MIR4751 CYTH2 PTOV1 MIR150 SNAR-A2 FLT3LG SNAR-B1 RASIP1 LMTK3 SPHK2 SNAR-A6
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	IRF3 MIR4749 MIR6799 MIR6800 MIR5088 TSKS BCL2L12 MED25 CPT1C PRMT1 PTOV1 RRAS FUZ ADM5 SCAF1 PTOV1-AS1 AP2A1 PTOV1-AS2 PRR12
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	TBC1D17 MIR4749 MIR4750 MIR6799 MIR6800 TSKS IL4I1 MIR4751 AKT1S1 MED25 PTOV1 FUZ ATF5 PNKP NUP62 PTOV1-AS1 AP2A1 PTOV1-AS2
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	TBC1D17 MIR4749 MIR4750 MIR6799 MIR6800 IL4I1 BCL2L12 MED25 CPT1C PRMT1 RRAS ADM5 PNKP NOSIP AP2A1 PTOV1-AS2 IRF3 MIR5088 TSKS MIR4751 PRRG2 AKT1S1 PTOV1 FUZ ATF5 SCAF1 NUP62 PTOV1-AS1 PRR12
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	SNORD32A MIR6799 MIR6800 SNORD34 SNORD33 BCL2L12 MED25 CPT1C PRMT1 RRAS RPS11 ADM5 SNORD35A NOSIP AP2A1 IRF3 SNORD35B MIR5088 TSKS RPL13A PRRG2 MIR150 FUZ SCAF1 PTOV1-AS1 FCGRT RCN3 PRR12

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