Hs02351997_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49795691 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: Overlaps Exon 8 - Intron 8

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

More Information

• Set Membership: Intragenic, 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