Hs02804692_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49799315 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 9 - Exon 10

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

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