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

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