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

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