Hs04024615_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49796291 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	1110
	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	ALDH16A1 LMTK3 SIGLEC11 SNAR-A1 CYTH2 SNAR-A11 PPFIA3 SNAR-G2 RUVBL2 FUZ PNKP CCDC114 DHDH LIG1 PRRG2 CD37 PRR12 GYS1 SNAR-A13 AKT1S1 PTH2 CGB7 KCNA7 FUT1 MIR6798 SNAR-A4 SNAR-A10 CPT1C NUP62 LHB BCAT2 CARD8-AS1 FAM83E SNAR-A14 HRC SPHK2 CGB2 CGB3 IRF3 CABP5 PLEKHA4 FTL NUCB1 SNAR-A12 SNAR-C1 DBP SLC17A7 SNAR-B1 EMP3 CGB1 SNAR-C5 RPS11 SNORD34 NTF4 SNAR-C2 SNAR-A3 MIR4750 CCDC155 SCAF1 SYNGR4 GRIN2D LIN7B LOC100287477 FLJ26850 SNAR-A2 PTOV1-AS2 CA11 LOC101928295 SNORD35A ATF5 MIR5088 MIR4324 SNAR-G1 RCN3 PTOV1-AS1 SLC6A16 CGB8 SEC1P TBC1D17 CARD8 HSD17B14 FGF21 SNAR-A9 C19orf73 FLT3LG VRK3 GRWD1 TEAD2 FCGRT SPACA4 SULT2B1 LOC105447645 FUT2 DKKL1 BSPH1 LOC101059948 SNORD33 NTN5 MIR4751 SNAR-A8 SNRNP70 PPP1R15A RRAS C19orf68 MAMSTR MED25 PTOV1 KDELR1 SNAR-A7 SNAR-A5 IL4I1 BAX TULP2 SNAR-C3 PLA2G4C-AS1 ADM5 ELSPBP1 RPL13A AP2A1 SNAR-B2 PRMT1 PIH1D1 MIR6799 BCL2L12 TSKS GFY IZUMO1 ZNF473 SIGLEC16 LOC105372430 CGB5 NOSIP SNORD32A PLA2G4C MIR6800 ZNF114 TMEM143 RASIP1 KCNJ14 SNAR-A6 SNAR-D SNAR-C4 SNORD35B TRPM4 MIR4749 NUCB1-AS1 MIR150 RPL18
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	MIR6800 PTOV1-AS1 CPT1C ADM5 AP2A1 FUZ PRMT1 SCAF1 RRAS MIR6799 BCL2L12 TSKS MED25 PRR12 PTOV1 MIR4749 IRF3 PTOV1-AS2 MIR5088
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	IL4I1 MIR6800 PTOV1-AS1 MIR4750 TBC1D17 NUP62 MIR4751 AP2A1 FUZ PNKP MIR6799 TSKS MED25 PTOV1 MIR4749 AKT1S1 PTOV1-AS2 ATF5
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	IL4I1 PTOV1-AS1 TBC1D17 ADM5 AP2A1 FUZ PNKP PRMT1 MIR6799 BCL2L12 TSKS PRRG2 PRR12 AKT1S1 NOSIP MIR6800 CPT1C MIR4750 NUP62 MIR4751 SCAF1 RRAS MED25 PTOV1 MIR4749 IRF3 PTOV1-AS2 ATF5 MIR5088
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	RCN3 PTOV1-AS1 ADM5 RPL13A AP2A1 FUZ PRMT1 MIR6799 BCL2L12 TSKS FCGRT PRRG2 PRR12 RPS11 NOSIP SNORD32A SNORD34 MIR6800 CPT1C SNORD33 SCAF1 RRAS SNORD35B MED25 IRF3 MIR150 SNORD35A MIR5088
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