Hs04020539_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49795261 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	SPACA4 SNAR-C4 MIR4750 SNAR-A4 MED25 LOC101059948 FAM83E RASIP1 KDELR1 SNORD34 SLC17A7 SNAR-C2 RPL18 FUT2 ADM5 CCDC114 BCAT2 HRC SNAR-B1 LOC105447645 LHB SNORD35A MIR4749 SNAR-A13 PRMT1 CABP5 NTF4 RPL13A SNAR-A7 NUCB1-AS1 PPP1R15A DHDH BAX AKT1S1 CGB8 MIR6798 TULP2 CGB2 RUVBL2 VRK3 MIR6799 SNAR-B2 CD37 FUZ SNORD32A EMP3 MIR5088 SIGLEC16 SNAR-A11 FGF21 KCNJ14 BCL2L12 PLEKHA4 SCAF1 TRPM4 SNAR-A9 ALDH16A1 PNKP SNAR-A2 C19orf73 MIR4324 CA11 MIR6800 TMEM143 SNAR-A8 HSD17B14 NUCB1 LOC100287477 FLJ26850 CARD8-AS1 ZNF473 AP2A1 SYNGR4 SNAR-A6 LIN7B CCDC155 ZNF114 ELSPBP1 C19orf68 LOC101928295 KCNA7 PRRG2 RPS11 PTOV1-AS2 SNAR-G2 RRAS SNRNP70 CGB5 TBC1D17 SEC1P CGB7 IL4I1 SNAR-C1 SNAR-A5 FLT3LG GYS1 GRIN2D PTOV1 TSKS LIG1 SULT2B1 CARD8 CGB3 PLA2G4C SNAR-G1 LOC105372430 PRR12 MIR4751 SLC6A16 ATF5 SIGLEC11 CPT1C PLA2G4C-AS1 PPFIA3 NTN5 DKKL1 IZUMO1 SNAR-A3 MIR150 SNAR-A14 SNAR-C5 SNAR-A1 SNORD35B NUP62 PTOV1-AS1 PTH2 FCGRT CYTH2 NOSIP SNAR-C3 FTL LMTK3 FUT1 SNORD33 SPHK2 CGB1 SNAR-D GRWD1 GFY BSPH1 DBP PIH1D1 IRF3 MAMSTR RCN3 SNAR-A10 SNAR-A12 TEAD2
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	RRAS AP2A1 BCL2L12 ADM5 CPT1C SCAF1 MED25 MIR4749 MIR6799 PTOV1 TSKS PTOV1-AS2 PRMT1 FUZ MIR6800 PTOV1-AS1 MIR5088 IRF3 PRR12
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	TBC1D17 AP2A1 ATF5 AKT1S1 MIR4750 IL4I1 MED25 PNKP MIR4749 MIR6799 PTOV1 TSKS PTOV1-AS2 FUZ MIR6800 NUP62 PTOV1-AS1 MIR4751
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	AP2A1 ATF5 AKT1S1 CPT1C MIR4750 MED25 PRRG2 MIR6799 PTOV1-AS2 FUZ NUP62 PTOV1-AS1 MIR5088 NOSIP RRAS TBC1D17 BCL2L12 ADM5 SCAF1 IL4I1 PNKP MIR4749 PTOV1 TSKS PRMT1 MIR6800 IRF3 PRR12 MIR4751
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	AP2A1 CPT1C MIR150 MED25 PRRG2 MIR6799 RPS11 SNORD35B FUZ SNORD32A PTOV1-AS1 MIR5088 FCGRT SNORD34 NOSIP RRAS SNORD33 BCL2L12 ADM5 SCAF1 SNORD35A TSKS PRMT1 MIR6800 IRF3 RCN3 RPL13A PRR12

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