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

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