Hs04032748_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49774467 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-A8 FUT1 SNAR-A3 NTF4 CABP5 DBP ADM5 SNAR-A1 EMP3 PRR12 SNAR-A13 SEC1P FCGRT CYTH2 CGB8 HSD17B14 HRC NOSIP FGF21 SNAR-G1 SNAR-A2 DKKL1 KDELR1 AKT1S1 SNAR-B2 SNAR-A14 FUT2 PRMT1 TEAD2 SNAR-G2 LOC100287477 RRAS AP2A1 SNORD35A DHDH PLA2G4C FUZ PTOV1-AS1 NUCB1-AS1 PRRG2 LOC101928295 RPL18 TMEM143 PLEKHA4 SNORD33 SPACA4 SNAR-A10 CGB3 C19orf68 MIR6798 SPHK2 SLC17A7 KCNJ14 LOC105447645 SNAR-C3 CGB1 CGB7 PNKP MIR150 SIGLEC11 IZUMO1 SLC6A16 TSKS FLJ26850 SNAR-A6 SNAR-A11 MAMSTR LOC105372430 CGB5 ZNF114 SNAR-C4 ELSPBP1 RPS11 SNAR-A9 GFY SCAF1 PIH1D1 LHB TRPM4 LOC101059948 ALDH16A1 ATF5 CGB2 RASIP1 TBC1D17 PPP1R15A SNORD32A SNAR-D PTOV1 NTN5 PTOV1-AS2 NUP62 SNORD35B CARD8 SNAR-A12 BAX PLA2G4C-AS1 SYNGR4 TULP2 IL4I1 CCDC155 KCNA7 SULT2B1 SNAR-C2 SNORD34 SNAR-B1 VRK3 LIN7B SNRNP70 SIGLEC16 BCAT2 FAM83E PPFIA3 ZNF473 CPT1C MIR4751 SNAR-C5 MIR6800 CA11 C19orf73 PTH2 SNAR-A5 CD37 RPL13A RCN3 BCL2L12 IRF3 CCDC114 SNAR-C1 CARD8-AS1 MIR4749 GRIN2D FLT3LG MIR4750 MIR5088 LIG1 NUCB1 MED25 FTL GRWD1 BSPH1 SNAR-A4 SNAR-A7 MIR6799 GYS1 LMTK3 MIR4324 RUVBL2
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	SCAF1 MIR4749 RRAS CPT1C AP2A1 TSKS FUZ MIR6800 PTOV1-AS1 MIR5088 MED25 ADM5 PRR12 MIR6799 PTOV1 PTOV1-AS2 BCL2L12 IRF3 PRMT1
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	MIR4749 AP2A1 PNKP NUP62 MIR4751 TSKS FUZ MIR6800 PTOV1-AS1 MIR4750 MED25 ATF5 IL4I1 TBC1D17 MIR6799 PTOV1 AKT1S1 PTOV1-AS2
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	SCAF1 RRAS CPT1C AP2A1 MIR4751 FUZ MIR6800 PTOV1-AS1 PRRG2 ATF5 ADM5 TBC1D17 PRR12 PTOV1 PTOV1-AS2 BCL2L12 IRF3 MIR4749 PNKP NUP62 NOSIP TSKS MIR4750 MIR5088 MED25 IL4I1 MIR6799 AKT1S1 PRMT1
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	SCAF1 RRAS CPT1C AP2A1 SNORD35A FUZ MIR6800 PTOV1-AS1 PRRG2 ADM5 SNORD33 RPL13A SNORD32A PRR12 RCN3 BCL2L12 IRF3 FCGRT MIR150 SNORD35B NOSIP TSKS MIR5088 MED25 SNORD34 MIR6799 RPS11 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