Hs04023098_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49786561 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 5

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

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