Hs04023724_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49794598 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: Within Intron 7

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

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