Hs04010716_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49768563 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	CABP5 SNAR-C3 RUVBL2 CGB2 DBP LHB SNAR-A10 VRK3 MAMSTR BCL2L12 FLJ26850 FCGRT RASIP1 BCAT2 TRPM4 CARD8-AS1 CGB3 TULP2 ZNF473 IL4I1 MIR6800 KDELR1 SCAF1 DHDH MIR6799 MIR4751 RPL18 GRWD1 SNAR-B1 NUCB1 SPACA4 CYTH2 SNAR-G1 CGB7 CD37 KCNJ14 MIR4324 MIR150 SNAR-A4 IRF3 PTOV1 PRR12 CPT1C SNORD34 C19orf68 RRAS FAM83E PLEKHA4 PNKP ALDH16A1 KCNA7 RCN3 FUT1 SYNGR4 SEC1P SNAR-A7 SNAR-C4 SNAR-A3 PTH2 LOC101059948 CA11 FUZ NTF4 BAX CGB8 PRMT1 RPL13A LOC105447645 SNORD35B SNAR-A11 FLT3LG PPP1R15A SNAR-A2 SNAR-A13 SNAR-G2 ZNF114 LIN7B HRC TMEM143 SLC6A16 PPFIA3 NTN5 SNAR-A12 MIR6798 CCDC155 TEAD2 NOSIP SNAR-A9 TSKS C19orf73 ADM5 LOC101928295 SNAR-A6 AP2A1 PRRG2 FGF21 LMTK3 SPHK2 SLC17A7 NUP62 GYS1 SNRNP70 SNORD32A SULT2B1 SNAR-C2 HSD17B14 SIGLEC16 BSPH1 LOC100287477 EMP3 MED25 SNORD35A PIH1D1 SNAR-A1 CARD8 MIR4749 DKKL1 SNAR-C5 SNAR-C1 SIGLEC11 SNAR-D MIR4750 LOC105372430 GFY LIG1 PLA2G4C-AS1 AKT1S1 SNAR-A14 TBC1D17 ELSPBP1 PTOV1-AS2 RPS11 FUT2 CGB5 SNAR-A8 MIR5088 IZUMO1 FTL CGB1 PTOV1-AS1 SNORD33 GRIN2D PLA2G4C SNAR-B2 NUCB1-AS1 ATF5 SNAR-A5 CCDC114
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	FUZ MED25 PRMT1 RRAS MIR6800 SCAF1 TSKS MIR5088 MIR6799 MIR4749 BCL2L12 ADM5 PTOV1-AS1 AP2A1 IRF3 PTOV1 PRR12 PTOV1-AS2 CPT1C
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	FUZ MED25 IL4I1 MIR6800 TSKS NUP62 PNKP MIR6799 MIR4751 MIR4749 MIR4750 PTOV1-AS1 AP2A1 AKT1S1 PTOV1 ATF5 TBC1D17 PTOV1-AS2
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	MED25 RRAS NOSIP TSKS PNKP MIR4749 BCL2L12 ADM5 MIR4750 AP2A1 PRRG2 AKT1S1 TBC1D17 PTOV1-AS2 FUZ PRMT1 IL4I1 MIR6800 SCAF1 NUP62 MIR5088 MIR6799 MIR4751 PTOV1-AS1 IRF3 PTOV1 ATF5 PRR12 CPT1C
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	SNORD34 MED25 SNORD35A RRAS NOSIP TSKS RCN3 BCL2L12 ADM5 AP2A1 PRRG2 FCGRT RPS11 FUZ PRMT1 MIR6800 RPL13A SCAF1 MIR5088 MIR6799 SNORD32A SNORD35B PTOV1-AS1 SNORD33 MIR150 IRF3 PRR12 CPT1C

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