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