Hs04031614_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49788931 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 5

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
	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-A11 CGB5 SNRNP70 CARD8-AS1 C19orf73 NUCB1 SYNGR4 LOC105447645 LOC101928295 AP2A1 SNAR-G1 MIR150 SNORD32A LIN7B TBC1D17 NTF4 SNAR-C1 SPACA4 MIR6799 GRWD1 SPHK2 PNKP SNAR-C4 TEAD2 SNORD34 RUVBL2 SNAR-A12 MIR4750 KDELR1 VRK3 SULT2B1 BCL2L12 PTOV1-AS1 SNAR-C3 SLC17A7 RASIP1 NOSIP BCAT2 HSD17B14 FLJ26850 FLT3LG CGB3 RRAS GFY LOC101059948 FUT1 MIR4324 FGF21 PLA2G4C-AS1 DBP CA11 SEC1P PRR12 CD37 RCN3 SNORD35B MIR6800 PTH2 RPL18 PTOV1-AS2 FCGRT FUT2 CYTH2 CGB2 CGB1 PLA2G4C SNAR-B1 SNAR-A1 SLC6A16 ADM5 TSKS CCDC114 NUP62 HRC CARD8 MIR4751 SNAR-C2 SNAR-A4 PPP1R15A SNAR-A9 GRIN2D SNAR-A14 IZUMO1 MED25 SNAR-A3 SNAR-G2 SIGLEC16 SNAR-A6 MIR6798 IRF3 GYS1 PTOV1 PPFIA3 LOC100287477 CPT1C MIR4749 RPL13A SCAF1 PRMT1 SIGLEC11 IL4I1 SNORD35A CCDC155 PLEKHA4 SNAR-A7 LIG1 MAMSTR SNORD33 MIR5088 BAX RPS11 NUCB1-AS1 PIH1D1 SNAR-A10 BSPH1 ZNF114 TMEM143 LOC105372430 EMP3 FTL ATF5 SNAR-A5 DHDH CABP5 C19orf68 KCNA7 CGB8 ALDH16A1 SNAR-C5 SNAR-A13 DKKL1 LMTK3 SNAR-B2 TULP2 TRPM4 CGB7 ZNF473 FUZ KCNJ14 AKT1S1 FAM83E SNAR-A2 PRRG2 ELSPBP1 NTN5 LHB SNAR-A8 SNAR-D
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	PTOV1 MIR6799 MIR5088 CPT1C MIR4749 MIR6800 SCAF1 PRMT1 RRAS PTOV1-AS2 FUZ AP2A1 BCL2L12 PTOV1-AS1 MED25 ADM5 PRR12 TSKS IRF3
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	PTOV1 MIR6799 PNKP NUP62 MIR4749 MIR6800 MIR4751 MIR4750 PTOV1-AS2 FUZ AKT1S1 AP2A1 IL4I1 ATF5 TBC1D17 PTOV1-AS1 MED25 TSKS
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	NOSIP MIR5088 NUP62 MIR4751 RRAS AP2A1 ATF5 TBC1D17 MED25 PRR12 IRF3 PTOV1 MIR6799 PNKP CPT1C MIR4749 MIR6800 SCAF1 PRMT1 MIR4750 PTOV1-AS2 FUZ AKT1S1 IL4I1 PRRG2 BCL2L12 PTOV1-AS1 ADM5 TSKS
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	NOSIP SNORD33 MIR5088 RPS11 RRAS AP2A1 MIR150 SNORD32A MED25 PRR12 IRF3 RCN3 SNORD35B MIR6799 CPT1C MIR6800 SNORD34 RPL13A SCAF1 PRMT1 FCGRT FUZ SNORD35A PRRG2 BCL2L12 PTOV1-AS1 ADM5 TSKS
nsv524546	Chr.19:49786602 - 49792888 on Build GRCh38	Loss	MIR6799 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