Hs02351997_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49795691 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 Exon 8 - Intron 8

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

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