Hs01839002_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49798926 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 Exon 9 - Intron 9

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

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