Hs02905188_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49791943 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 5 - Exon 6

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 Gene Details

• Entrez Gene ID: 102465479
• Gene Name: microRNA 6799
• Gene Aliases: hsa-mir-6799
• Location: Chr.19:49791866-49791934 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIR6799	NR_106857.1

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	RPL18 SNORD32A FLT3LG BCAT2 CCDC114 SNORD34 PNKP PTOV1-AS2 IZUMO1 TULP2 CARD8-AS1 GRWD1 KCNJ14 PLA2G4C TRPM4 SNAR-A3 CARD8 SNAR-C5 MIR150 SLC17A7 NUCB1 IL4I1 FGF21 CABP5 AP2A1 LOC101059948 MIR6798 SNORD35B FCGRT BAX ELSPBP1 SNRNP70 FTL FUZ HRC SNAR-B1 BCL2L12 ATF5 LOC105372430 LIN7B TMEM143 SNORD35A MIR4324 CGB5 TBC1D17 PTOV1 ZNF473 CA11 MIR6800 MAMSTR CGB7 FUT2 EMP3 SNAR-C4 CPT1C PLEKHA4 SNAR-A6 DBP LOC100287477 SIGLEC11 FUT1 LOC105447645 C19orf68 SNAR-C2 TSKS SNAR-D CGB8 BSPH1 CCDC155 FAM83E PRRG2 SNAR-A12 DKKL1 MIR6799 FLJ26850 NTN5 IRF3 MED25 AKT1S1 RCN3 CGB1 SNAR-A4 PLA2G4C-AS1 SNAR-C1 CYTH2 KCNA7 SYNGR4 SNAR-A10 RRAS KDELR1 CGB3 CGB2 SNAR-A2 SCAF1 NOSIP RPS11 SNAR-A8 NUP62 PTOV1-AS1 MIR4751 SNAR-A7 SNAR-A1 HSD17B14 SPACA4 MIR4750 GYS1 MIR5088 SNAR-G2 SLC6A16 SNAR-C3 PTH2 SNAR-A13 C19orf73 RUVBL2 TEAD2 VRK3 DHDH LHB CD37 SNAR-A14 SEC1P PRMT1 NTF4 LOC101928295 MIR4749 LIG1 NUCB1-AS1 SPHK2 RASIP1 SNAR-G1 PRR12 SNAR-A9 SNORD33 GRIN2D SULT2B1 PPFIA3 PIH1D1 LMTK3 SIGLEC16 SNAR-B2 SNAR-A11 GFY SNAR-A5 ALDH16A1 RPL13A ZNF114 PPP1R15A ADM5
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	RRAS MIR6799 FUZ SCAF1 PRR12 IRF3 BCL2L12 AP2A1 PTOV1-AS1 TSKS PTOV1-AS2 PTOV1 MIR6800 MED25 PRMT1 MIR5088 MIR4749 ADM5 CPT1C
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	MIR6799 FUZ IL4I1 ATF5 PNKP NUP62 AP2A1 PTOV1-AS1 MIR4751 TSKS PTOV1-AS2 TBC1D17 PTOV1 MIR6800 MED25 MIR4750 AKT1S1 MIR4749
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	MIR6799 FUZ IRF3 BCL2L12 ATF5 PNKP PTOV1-AS2 TBC1D17 PTOV1 MIR6800 MED25 PRMT1 AKT1S1 MIR4749 CPT1C RRAS SCAF1 IL4I1 PRR12 NOSIP NUP62 AP2A1 PTOV1-AS1 MIR4751 TSKS MIR4750 MIR5088 PRRG2 ADM5
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	SNORD32A MIR6799 FUZ SNORD34 IRF3 BCL2L12 SNORD35A MIR6800 MED25 PRMT1 RCN3 CPT1C RRAS MIR150 SCAF1 PRR12 NOSIP RPS11 SNORD33 AP2A1 PTOV1-AS1 SNORD35B TSKS FCGRT MIR5088 RPL13A PRRG2 ADM5
nsv524546	Chr.19:49786602 - 49792888 on Build GRCh38	Loss	MIR6799 AP2A1
nsv518114	Chr.19:49789853 - 49792888 on Build GRCh38	Loss	MIR6799 AP2A1

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