Hs01433431_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49793019 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 6 - Exon 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	SNAR-A14 MIR4324 PPP1R15A MIR4750 PNKP SNAR-C3 AKT1S1 MIR6800 SNAR-A4 AP2A1 RASIP1 KDELR1 RPS11 FUT1 LOC101059948 PLEKHA4 CD37 LIG1 BSPH1 SNAR-C4 LOC105372430 SNRNP70 LOC105447645 SNORD32A CA11 SNAR-A13 CGB5 KCNA7 SNAR-A10 MIR6799 LMTK3 GRWD1 TBC1D17 SNORD33 SNAR-B2 SNAR-A6 SNORD35B NUCB1 SNAR-A1 CABP5 RUVBL2 NOSIP KCNJ14 SNAR-A3 LOC101928295 TRPM4 FLT3LG MIR150 CGB2 SNAR-A7 BCL2L12 SNORD34 DBP GRIN2D BAX PLA2G4C-AS1 SLC6A16 CCDC155 ADM5 PTOV1-AS2 C19orf68 CYTH2 PLA2G4C RPL18 SIGLEC16 CGB8 VRK3 LIN7B SNORD35A RRAS CGB1 NUP62 SNAR-A12 SPHK2 FAM83E CGB3 NTF4 LOC100287477 IL4I1 TSKS MAMSTR MIR6798 SNAR-C2 SYNGR4 MIR4751 ALDH16A1 IZUMO1 DHDH CARD8-AS1 SNAR-A11 HSD17B14 FGF21 SNAR-C1 SEC1P FTL CGB7 CARD8 HRC MIR4749 SNAR-D IRF3 SNAR-A5 RPL13A SLC17A7 CPT1C DKKL1 SNAR-A8 PRRG2 FCGRT SNAR-G2 SNAR-C5 LHB EMP3 SNAR-G1 TEAD2 SNAR-A9 ELSPBP1 SNAR-A2 TULP2 ZNF114 GFY CCDC114 PPFIA3 FUT2 NUCB1-AS1 MED25 PRMT1 MIR5088 ATF5 FUZ PTH2 RCN3 SULT2B1 GYS1 ZNF473 PRR12 NTN5 PTOV1-AS1 SPACA4 SNAR-B1 FLJ26850 C19orf73 SIGLEC11 PTOV1 BCAT2 SCAF1 PIH1D1 TMEM143
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	MIR5088 CPT1C FUZ MIR6799 MIR6800 AP2A1 PRR12 ADM5 PTOV1-AS1 PTOV1-AS2 PTOV1 TSKS MIR4749 SCAF1 BCL2L12 IRF3 MED25 RRAS PRMT1
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	ATF5 FUZ MIR4751 MIR4750 PNKP MIR6799 AKT1S1 MIR6800 AP2A1 PTOV1-AS1 PTOV1-AS2 IL4I1 PTOV1 TBC1D17 TSKS MIR4749 MED25 NUP62
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	CPT1C MIR4750 PNKP PRRG2 AKT1S1 MIR6800 NOSIP AP2A1 IL4I1 TSKS BCL2L12 MED25 PRMT1 MIR5088 ATF5 FUZ MIR4751 MIR6799 PRR12 ADM5 PTOV1-AS1 PTOV1-AS2 PTOV1 TBC1D17 MIR4749 SCAF1 IRF3 RRAS NUP62
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	RPL13A SNORD35B CPT1C PRRG2 FCGRT MIR6800 NOSIP AP2A1 RPS11 MIR150 TSKS BCL2L12 SNORD34 MED25 SNORD32A PRMT1 MIR5088 FUZ RCN3 MIR6799 PRR12 ADM5 PTOV1-AS1 SNORD33 SCAF1 IRF3 SNORD35A RRAS

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