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

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