Hs04023038_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49775836 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP2A1	NM_014203.2			NP_055018.2
	NM_130787.2			NP_570603.2
	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-A2 PPP1R15A SNAR-G2 SNAR-A8 CABP5 SLC6A16 CARD8-AS1 SNAR-A3 SNORD35A LOC101928295 NUCB1-AS1 LOC105447645 BCL2L12 NOSIP KCNA7 SEC1P CD37 RCN3 ZNF114 SPHK2 LOC100287477 FUT1 PTH2 SNAR-A14 RPL13A RPS11 DBP SNORD33 GRWD1 MIR6798 LOC105372430 SNAR-A1 SNAR-A11 NUP62 RPL18 SNAR-D FAM83E PRMT1 FCGRT PLA2G4C-AS1 SIGLEC11 RUVBL2 NUCB1 CARD8 BSPH1 CGB5 EMP3 CGB8 TEAD2 KCNJ14 MIR4749 TRPM4 SNAR-B1 CGB1 SIGLEC16 MIR4750 SLC17A7 FLJ26850 KDELR1 SNRNP70 MED25 SNAR-C3 CA11 SNAR-B2 CGB2 AP2A1 PLEKHA4 MIR5088 MIR4324 SNAR-A6 FUZ ZNF473 ATF5 HSD17B14 CGB7 LIG1 SNAR-A12 CCDC155 HRC SNAR-C1 FGF21 ELSPBP1 SPACA4 AKT1S1 PRRG2 C19orf73 SNAR-A7 C19orf68 BCAT2 PRR12 SYNGR4 CYTH2 NTF4 FTL SNAR-C4 LIN7B MIR6799 MAMSTR SNORD35B IL4I1 SNAR-A9 TSKS MIR6800 SNAR-A10 TULP2 FLT3LG SNORD32A SNORD34 CGB3 BAX SULT2B1 TBC1D17 SNAR-A4 PNKP LMTK3 CPT1C LHB SNAR-G1 ALDH16A1 PTOV1-AS1 PTOV1-AS2 PIH1D1 RASIP1 GRIN2D SNAR-A5 SCAF1 GYS1 NTN5 FUT2 SNAR-C5 ADM5 MIR4751 SNAR-C2 VRK3 IRF3 MIR150 DKKL1 IZUMO1 DHDH GFY SNAR-A13 RRAS TMEM143 PTOV1 PLA2G4C CCDC114 PPFIA3 LOC101059948
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	CPT1C MIR6799 PTOV1-AS1 PTOV1-AS2 RRAS AP2A1 TSKS MIR5088 BCL2L12 FUZ SCAF1 PTOV1 MIR6800 MIR4749 ADM5 PRR12 IRF3 PRMT1 MED25
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	PNKP MIR6799 PTOV1-AS1 PTOV1-AS2 IL4I1 AP2A1 AKT1S1 TSKS FUZ PTOV1 MIR6800 MIR4749 NUP62 ATF5 MIR4751 MIR4750 MED25 TBC1D17
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	PNKP CPT1C PTOV1-AS1 PTOV1-AS2 AKT1S1 PRRG2 BCL2L12 SCAF1 NOSIP MIR4749 ADM5 MIR4751 MIR4750 PRR12 IRF3 MED25 MIR6799 RRAS IL4I1 AP2A1 TSKS MIR5088 FUZ PTOV1 MIR6800 NUP62 ATF5 PRMT1 TBC1D17
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	CPT1C PTOV1-AS1 SNORD35A PRRG2 BCL2L12 SCAF1 NOSIP RCN3 ADM5 PRR12 IRF3 RPL13A RPS11 MED25 MIR150 MIR6799 SNORD33 SNORD35B RRAS AP2A1 TSKS MIR5088 FUZ MIR6800 SNORD32A PRMT1 SNORD34 FCGRT

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