Hs02806407_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49781933 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 3 - Exon 4

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

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