Hs04021143_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49789921 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	CGB8 SNAR-A6 GFY CCDC114 MED25 SNAR-A7 TBC1D17 SNORD35B MIR150 SLC6A16 SNAR-G2 RCN3 DKKL1 ELSPBP1 NTN5 PRR12 SULT2B1 LIG1 SNAR-C5 CGB3 RPS11 CA11 PLA2G4C MIR5088 CCDC155 SNORD32A CD37 KCNJ14 SNAR-C1 FCGRT LHB TEAD2 LOC105447645 PPP1R15A PLA2G4C-AS1 PRRG2 C19orf68 C19orf73 CGB2 CABP5 SNAR-A12 FAM83E FUT1 MIR6800 SNAR-A9 AP2A1 SNAR-C4 HRC TSKS AKT1S1 FUT2 CARD8-AS1 IRF3 EMP3 FGF21 BSPH1 SNAR-A5 GRWD1 LOC105372430 FTL LIN7B CPT1C ZNF114 SNAR-A11 CGB5 PIH1D1 SNAR-A10 VRK3 LOC101059948 FLT3LG SNAR-A3 SIGLEC11 SNAR-C3 LOC100287477 NUCB1-AS1 RUVBL2 SNAR-G1 PLEKHA4 SNAR-B2 IZUMO1 FUZ HSD17B14 SNAR-A1 BCL2L12 SLC17A7 SIGLEC16 PTOV1-AS2 FLJ26850 PPFIA3 PTOV1 SNAR-C2 MIR4750 CGB1 SNORD34 BCAT2 PNKP SNORD33 MIR4751 NTF4 NOSIP LOC101928295 CGB7 SEC1P MIR4749 TULP2 SNAR-A4 BAX RPL18 KCNA7 TRPM4 MIR6798 RPL13A IL4I1 SYNGR4 SPACA4 SNORD35A LMTK3 SNAR-A2 SPHK2 PRMT1 TMEM143 SNAR-D SNRNP70 PTH2 MAMSTR PTOV1-AS1 ZNF473 ATF5 DHDH RASIP1 CARD8 SNAR-B1 MIR4324 SCAF1 SNAR-A14 CYTH2 ADM5 ALDH16A1 NUP62 SNAR-A13 MIR6799 GYS1 NUCB1 KDELR1 DBP GRIN2D SNAR-A8 RRAS
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	PRMT1 AP2A1 ADM5 MIR5088 TSKS MED25 IRF3 BCL2L12 PTOV1-AS1 MIR4749 PTOV1-AS2 PTOV1 MIR6799 FUZ PRR12 CPT1C MIR6800 RRAS SCAF1
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	AP2A1 TSKS AKT1S1 MED25 TBC1D17 PTOV1-AS1 MIR4749 PTOV1-AS2 NUP62 PTOV1 MIR4750 MIR6799 ATF5 FUZ PNKP IL4I1 MIR4751 MIR6800
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	PRMT1 AP2A1 TSKS AKT1S1 MED25 IRF3 TBC1D17 BCL2L12 PTOV1-AS1 PTOV1-AS2 PTOV1 MIR4750 ATF5 PNKP MIR4751 PRR12 CPT1C NOSIP SCAF1 ADM5 MIR5088 MIR4749 NUP62 PRRG2 MIR6799 FUZ IL4I1 MIR6800 RRAS
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	PRMT1 AP2A1 TSKS MED25 IRF3 BCL2L12 SNORD35B PTOV1-AS1 MIR150 RCN3 SNORD34 SNORD33 PRR12 CPT1C NOSIP SCAF1 RPS11 ADM5 MIR5088 SNORD32A FCGRT PRRG2 MIR6799 FUZ RPL13A MIR6800 RRAS SNORD35A
nsv524546	Chr.19:49786602 - 49792888 on Build GRCh38	Loss	AP2A1 MIR6799
nsv518114	Chr.19:49789853 - 49792888 on Build GRCh38	Loss	AP2A1 MIR6799

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