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

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