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

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