Hs04483369_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49796881 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 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

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