Hs04010716_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49768563 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	LOC105447645 FCGRT SNAR-A9 MIR150 IRF3 MIR4750 NOSIP DHDH LOC105372430 BCAT2 SNAR-A5 GRIN2D EMP3 RPL13A ADM5 DKKL1 FUZ SNAR-B1 FTL LOC100287477 BCL2L12 ELSPBP1 SNORD35B NUP62 SNAR-A1 SNAR-G2 MIR6798 PPFIA3 ALDH16A1 PRRG2 KDELR1 FLT3LG BAX RASIP1 NUCB1-AS1 MIR4749 PIH1D1 SNORD34 PLA2G4C CGB2 FUT2 TEAD2 AKT1S1 SEC1P CA11 LOC101928295 MIR5088 SNORD35A PPP1R15A CGB8 RPS11 VRK3 SPACA4 SCAF1 SNAR-C1 MIR6800 SNAR-C5 SNAR-A4 KCNJ14 PRMT1 NTN5 SIGLEC11 RRAS LHB SULT2B1 SNAR-A7 PLA2G4C-AS1 CABP5 LOC101059948 SNAR-C2 SNORD33 SNAR-A2 NTF4 ATF5 SNAR-A14 SNAR-A10 DBP GYS1 SNAR-D CGB7 MIR4751 PTOV1-AS1 CGB1 SNRNP70 MIR4324 FUT1 GRWD1 SYNGR4 MIR6799 PNKP KCNA7 SNAR-A3 SLC17A7 PTH2 ZNF473 CYTH2 CARD8-AS1 BSPH1 GFY AP2A1 SIGLEC16 CGB5 PRR12 LIG1 CPT1C SNAR-C3 ZNF114 RPL18 TMEM143 CARD8 CD37 FLJ26850 SNAR-A12 TBC1D17 RCN3 SLC6A16 C19orf68 CCDC155 LMTK3 SNAR-B2 IZUMO1 FGF21 MAMSTR RUVBL2 PTOV1 HRC SNAR-G1 SPHK2 C19orf73 SNAR-C4 LIN7B IL4I1 FAM83E SNAR-A13 TRPM4 HSD17B14 SNAR-A6 SNAR-A8 CGB3 TSKS PTOV1-AS2 CCDC114 TULP2 SNAR-A11 PLEKHA4 MED25 SNORD32A NUCB1
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	MIR6799 BCL2L12 PRMT1 MIR5088 IRF3 TSKS PTOV1-AS2 PTOV1-AS1 AP2A1 RRAS PTOV1 PRR12 CPT1C MED25 SCAF1 ADM5 MIR6800 MIR4749 FUZ
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	MIR6799 PNKP AKT1S1 ATF5 IL4I1 TBC1D17 NUP62 MIR4750 TSKS PTOV1-AS2 MIR4751 PTOV1-AS1 AP2A1 PTOV1 MED25 MIR6800 MIR4749 FUZ
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	AKT1S1 ATF5 TBC1D17 MIR5088 IRF3 MIR4750 NOSIP MIR4751 PTOV1-AS1 PTOV1 SCAF1 ADM5 MIR6800 FUZ MIR6799 PNKP BCL2L12 PRMT1 IL4I1 NUP62 TSKS PTOV1-AS2 PRRG2 AP2A1 RRAS PRR12 CPT1C MED25 MIR4749
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	FCGRT MIR5088 RCN3 MIR150 SNORD35A IRF3 NOSIP PTOV1-AS1 RPS11 RPL13A SCAF1 ADM5 MIR6800 FUZ MIR6799 BCL2L12 PRMT1 SNORD35B TSKS PRRG2 AP2A1 RRAS PRR12 CPT1C MED25 SNORD32A SNORD34 SNORD33

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