Hs04023098_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49786561 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	DKKL1 SNRNP70 TSKS SNORD34 SNAR-A8 DHDH PTH2 LHB TMEM143 NTF4 LMTK3 GYS1 IRF3 SNAR-A11 C19orf73 SNAR-A9 SNAR-A6 LOC101928295 GRIN2D FUT1 SNORD32A SNAR-A7 BCL2L12 SNAR-A2 RASIP1 SPHK2 RCN3 SNAR-A12 NOSIP TULP2 PTOV1 BAX ATF5 RPS11 RPL13A CPT1C GFY SNORD33 SLC17A7 SIGLEC16 SNAR-C4 LOC100287477 SYNGR4 CGB5 NUCB1 SNORD35B MIR4751 DBP SCAF1 MIR4750 FTL SNAR-C3 SNAR-B1 SNAR-B2 MIR4749 CYTH2 MIR150 PRRG2 HRC PLEKHA4 NTN5 AP2A1 FCGRT KDELR1 C19orf68 IL4I1 FLT3LG FAM83E MIR4324 LOC105372430 CA11 TRPM4 CCDC114 PTOV1-AS2 CARD8 LIN7B ADM5 CGB7 SNAR-A3 LOC101059948 FUT2 PRMT1 PPFIA3 BSPH1 MED25 SNAR-A5 CGB3 SIGLEC11 SPACA4 SNAR-A1 VRK3 SEC1P PNKP CABP5 SNAR-A14 ZNF473 IZUMO1 PTOV1-AS1 PIH1D1 SNAR-A10 SLC6A16 MAMSTR RRAS MIR5088 GRWD1 CCDC155 PLA2G4C-AS1 CGB8 MIR6800 LOC105447645 SNAR-C5 FGF21 LIG1 TBC1D17 ZNF114 SNAR-G1 BCAT2 RUVBL2 MIR6798 FUZ ALDH16A1 EMP3 PLA2G4C CGB2 SNAR-G2 MIR6799 KCNA7 SNAR-A4 NUP62 CARD8-AS1 SNAR-C2 TEAD2 SNORD35A SNAR-C1 HSD17B14 PRR12 CD37 KCNJ14 ELSPBP1 AKT1S1 SULT2B1 SNAR-D FLJ26850 RPL18 CGB1 PPP1R15A SNAR-A13 NUCB1-AS1
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	AP2A1 FUZ MIR5088 PRR12 MED25 BCL2L12 TSKS SCAF1 MIR6800 PTOV1 PTOV1-AS2 MIR6799 MIR4749 ADM5 CPT1C PRMT1 IRF3 PTOV1-AS1 RRAS
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	AP2A1 FUZ IL4I1 MED25 TSKS MIR4751 AKT1S1 MIR4750 MIR6800 PTOV1 PTOV1-AS2 MIR6799 ATF5 MIR4749 PNKP TBC1D17 NUP62 PTOV1-AS1
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	FUZ MED25 TSKS MIR4751 SCAF1 MIR4750 MIR6799 MIR4749 PNKP NUP62 IRF3 PRRG2 PTOV1-AS1 RRAS AP2A1 MIR5088 PRR12 IL4I1 BCL2L12 AKT1S1 NOSIP MIR6800 PTOV1 PTOV1-AS2 ATF5 ADM5 TBC1D17 CPT1C PRMT1
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	FUZ MED25 TSKS SNORD35B SNORD34 SCAF1 MIR6799 MIR150 IRF3 PRRG2 PTOV1-AS1 RRAS SNORD35A AP2A1 FCGRT MIR5088 PRR12 SNORD32A BCL2L12 RCN3 NOSIP MIR6800 RPS11 ADM5 RPL13A CPT1C PRMT1 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