Hs02768743_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49782512 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 Intron 4 - Exon 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	SNAR-A13 SNAR-A6 HRC CA11 SCAF1 FTL PRMT1 SYNGR4 ELSPBP1 SNAR-G2 SNORD32A GRIN2D PRR12 ZNF473 CCDC155 SNORD35A TMEM143 AP2A1 DBP FLT3LG GFY BAX PPFIA3 PTOV1-AS2 GYS1 BCL2L12 ADM5 SNAR-B1 PLA2G4C KCNJ14 LIN7B SIGLEC16 FUT1 MIR6800 TEAD2 BCAT2 CGB5 CGB3 AKT1S1 TSKS SNAR-A8 LOC101059948 GRWD1 MIR5088 EMP3 LHB CARD8 CGB7 SNAR-A12 NTN5 LIG1 NUP62 RPS11 SULT2B1 RRAS SNORD34 CGB8 CD37 ZNF114 RPL18 CABP5 SNAR-B2 SNRNP70 FLJ26850 SEC1P FCGRT MAMSTR ALDH16A1 SNAR-D RUVBL2 CYTH2 ATF5 C19orf68 DKKL1 SNAR-A11 RCN3 C19orf73 IRF3 SNAR-A4 MIR4324 PPP1R15A SNAR-A1 MIR4749 IZUMO1 SNAR-A2 MIR4750 SNAR-A10 TRPM4 SNAR-C2 SNAR-G1 FUZ SNAR-C4 NOSIP RASIP1 SNAR-C1 CCDC114 LOC105447645 BSPH1 NUCB1-AS1 SNORD35B KDELR1 PTOV1 SLC17A7 SPHK2 SNAR-C5 PIH1D1 PTH2 NUCB1 PLA2G4C-AS1 PRRG2 LOC105372430 MIR6798 CGB1 PNKP MIR150 LMTK3 FGF21 CGB2 NTF4 SIGLEC11 SNAR-A7 RPL13A TULP2 SNORD33 CPT1C SPACA4 MIR6799 FAM83E FUT2 SNAR-A3 MIR4751 KCNA7 LOC101928295 PTOV1-AS1 DHDH LOC100287477 PLEKHA4 TBC1D17 CARD8-AS1 SNAR-A14 VRK3 MED25 SNAR-C3 SLC6A16 HSD17B14 SNAR-A5 IL4I1 SNAR-A9
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	PTOV1-AS2 IRF3 BCL2L12 ADM5 PTOV1 SCAF1 TSKS MED25 MIR5088 MIR4749 PRMT1 CPT1C MIR6799 MIR6800 PRR12 FUZ PTOV1-AS1 AP2A1 RRAS
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	TBC1D17 PTOV1-AS2 AKT1S1 PTOV1 TSKS MED25 MIR4749 MIR4750 MIR6799 MIR6800 MIR4751 NUP62 IL4I1 FUZ ATF5 PNKP PTOV1-AS1 AP2A1
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	IRF3 AKT1S1 SCAF1 TSKS MIR5088 MIR4749 PRMT1 CPT1C MIR4750 MIR6799 PRR12 MIR4751 NUP62 FUZ NOSIP PTOV1-AS1 AP2A1 RRAS TBC1D17 PTOV1-AS2 BCL2L12 ADM5 PTOV1 MED25 MIR6800 PRRG2 IL4I1 ATF5 PNKP
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	RCN3 IRF3 SCAF1 TSKS RPL13A MIR5088 PRMT1 SNORD33 CPT1C SNORD32A MIR6799 PRR12 FUZ RPS11 SNORD35A NOSIP PTOV1-AS1 AP2A1 RRAS SNORD34 SNORD35B BCL2L12 ADM5 MED25 FCGRT MIR6800 PRRG2 MIR150

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