Hs00967956_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49781811 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 2 - Intron 3

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

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