Hs04016305_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49798142 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 8

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

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