Hs04483369_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49796881 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 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	8	1700
	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	NTN5 MIR4749 EMP3 KCNJ14 SNAR-A2 AKT1S1 LOC100287477 SCAF1 LHB LIG1 KDELR1 BSPH1 AP2A1 LIN7B SEC1P MAMSTR CGB1 PTOV1-AS2 ATF5 SNAR-A12 ZNF114 CCDC114 SNAR-C2 BCL2L12 SNAR-A11 SYNGR4 NUP62 IL4I1 FLJ26850 SNAR-C4 GRWD1 CGB8 VRK3 TBC1D17 SNAR-A6 SNAR-G2 NUCB1 DKKL1 GYS1 TEAD2 SNAR-C1 GFY FAM83E NUCB1-AS1 LOC101928295 LMTK3 FTL NTF4 PIH1D1 CGB2 MIR4750 NOSIP ALDH16A1 TMEM143 RUVBL2 TRPM4 FCGRT MIR150 MIR6800 PTOV1-AS1 MIR4324 FLT3LG RCN3 SNAR-G1 SNAR-A5 TULP2 SNAR-A9 CA11 CYTH2 SNORD34 SNAR-A14 MIR6799 PLA2G4C-AS1 SPHK2 DHDH CGB3 IZUMO1 CARD8-AS1 DBP SLC17A7 SNORD32A SIGLEC16 SNAR-D SULT2B1 SNAR-C5 BCAT2 SNAR-B1 PRMT1 MIR5088 SNAR-A8 SNAR-A1 SNAR-A13 RRAS IRF3 SPACA4 PTH2 SNRNP70 ZNF473 CD37 SNORD33 SNORD35B SIGLEC11 CABP5 BAX RASIP1 C19orf68 MED25 CPT1C TSKS SNAR-A3 HRC SLC6A16 C19orf73 ELSPBP1 MIR6798 LOC105372430 PPFIA3 RPS11 SNORD35A FUT1 CARD8 PPP1R15A PNKP ADM5 RPL13A PRRG2 SNAR-C3 LOC105447645 MIR4751 RPL18 LOC101059948 PRR12 PTOV1 GRIN2D HSD17B14 SNAR-A4 SNAR-B2 CCDC155 FGF21 SNAR-A10 CGB7 CGB5 SNAR-A7 PLEKHA4 KCNA7 FUT2 FUZ PLA2G4C
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	MIR4749 MIR6800 PTOV1-AS1 MED25 CPT1C PRMT1 TSKS MIR5088 PTOV1-AS2 SCAF1 PRR12 RRAS IRF3 PTOV1 MIR6799 BCL2L12 FUZ AP2A1 ADM5
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	TBC1D17 MIR4749 MIR6800 PTOV1-AS1 MED25 AKT1S1 TSKS MIR4751 PTOV1-AS2 ATF5 PTOV1 MIR4750 MIR6799 NUP62 IL4I1 FUZ AP2A1 PNKP
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	TBC1D17 MIR4749 PRRG2 AKT1S1 PRMT1 MIR5088 MIR4751 SCAF1 PRR12 RRAS IRF3 PTOV1 MIR4750 NOSIP AP2A1 MIR6800 PTOV1-AS1 MED25 CPT1C TSKS PTOV1-AS2 ATF5 MIR6799 BCL2L12 NUP62 IL4I1 FUZ PNKP ADM5
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	SNORD32A RPL13A PRRG2 PRMT1 MIR5088 SCAF1 PRR12 RRAS IRF3 NOSIP AP2A1 FCGRT MIR150 SNORD33 SNORD35B MIR6800 PTOV1-AS1 MED25 RCN3 CPT1C TSKS SNORD34 MIR6799 BCL2L12 RPS11 SNORD35A FUZ ADM5
esv3427277	Chr.19:49796183 - 49797481 on Build GRCh38	Duplication	AP2A1

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