Hs04031614_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49788931 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 5

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	NOSIP MIR5088 SNAR-A9 KDELR1 NTN5 SLC17A7 MIR6800 SNAR-A8 SNAR-C2 SNAR-A11 SNAR-A3 BSPH1 FAM83E CGB2 FLJ26850 CGB5 LHB PTOV1 MIR4749 BAX DHDH RPS11 FGF21 NUCB1-AS1 SNORD35A ZNF473 TBC1D17 IRF3 EMP3 PTH2 SNAR-A14 SNAR-A1 TEAD2 GFY PPP1R15A ZNF114 SLC6A16 SNAR-A2 SNAR-C1 SPACA4 DKKL1 NUCB1 TSKS IZUMO1 RCN3 SNRNP70 LOC105372430 ELSPBP1 ADM5 PNKP MIR4750 PLA2G4C SNAR-A10 SNAR-A4 HRC PIH1D1 NUP62 PRMT1 SNAR-B1 CGB7 SULT2B1 PTOV1-AS1 ALDH16A1 RRAS LOC101059948 C19orf73 BCAT2 PRR12 SNAR-G2 GRWD1 SEC1P CCDC155 FUZ SNAR-C3 ATF5 SCAF1 SNORD32A FCGRT CA11 SNAR-A12 SNAR-B2 KCNJ14 SNAR-A13 SNORD34 TULP2 MED25 CGB3 DBP FTL CARD8-AS1 MIR4324 LOC101928295 RPL13A NTF4 GYS1 CGB1 PRRG2 LOC105447645 SPHK2 SNAR-C4 LMTK3 LIN7B FUT2 CGB8 TMEM143 SNAR-G1 PPFIA3 RASIP1 SNORD33 SIGLEC11 BCL2L12 MAMSTR IL4I1 LIG1 SYNGR4 SIGLEC16 HSD17B14 MIR6798 PTOV1-AS2 SNAR-A6 MIR150 AKT1S1 SNAR-A7 CPT1C CABP5 C19orf68 TRPM4 SNORD35B PLEKHA4 SNAR-C5 SNAR-A5 CYTH2 MIR6799 RUVBL2 SNAR-D CD37 MIR4751 LOC100287477 KCNA7 RPL18 CCDC114 VRK3 FUT1 GRIN2D FLT3LG AP2A1 PLA2G4C-AS1 CARD8
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	PRR12 CPT1C MED25 MIR5088 BCL2L12 MIR6799 PTOV1 MIR4749 FUZ PRMT1 TSKS SCAF1 PTOV1-AS1 RRAS MIR6800 ADM5 PTOV1-AS2 IRF3 AP2A1
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	AKT1S1 MED25 MIR6799 PTOV1 MIR4749 FUZ NUP62 ATF5 TSKS IL4I1 MIR4751 PTOV1-AS1 MIR6800 PNKP PTOV1-AS2 TBC1D17 AP2A1 MIR4750
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	PRR12 NOSIP MIR5088 BCL2L12 FUZ ATF5 TSKS SCAF1 IL4I1 MIR6800 ADM5 PNKP PTOV1-AS2 MIR4750 AKT1S1 CPT1C MED25 MIR6799 PTOV1 MIR4749 NUP62 PRMT1 PRRG2 MIR4751 PTOV1-AS1 RRAS TBC1D17 IRF3 AP2A1
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	PRR12 NOSIP MIR5088 SNORD33 BCL2L12 FUZ TSKS SCAF1 SNORD32A FCGRT RCN3 MIR6800 ADM5 SNORD34 MIR150 CPT1C MED25 SNORD35B RPL13A MIR6799 PRMT1 PRRG2 RPS11 PTOV1-AS1 RRAS SNORD35A IRF3 AP2A1
nsv524546	Chr.19:49786602 - 49792888 on Build GRCh38	Loss	MIR6799 AP2A1

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