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

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