Hs02103588_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49130437 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 8541
• Gene Name: PTPRF interacting protein alpha 3
• Gene Aliases: LPNA3
• Location: Chr.19:49119389-49151030 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPFIA3	NM_003660.3			NP_003651.1
	NR_103842.1
	XM_017027407.1			XP_016882896.1
	AB014554.2
	AK025972.1
	AK289757.1
	AK293798.1
	AK308483.1
	BC101518.1			AAI01519.1
	BC101520.1			AAI01521.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	LOC101059948 LHB MIR6798 SNAR-G2 CGB3 LIN7B HRC CGB1 CGB5 SNRNP70 RUVBL2 CGB2 CGB7 CGB8 PPFIA3 KCNA7 TRPM4 SNAR-G1 C19orf73 NTF4
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	SNRNP70 PPFIA3 LIN7B C19orf73
nsv470149	Chr.19:49129515 - 49155110 on Build GRCh38	Loss	PPFIA3 HRC
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	MAMSTR LHB EMP3 SEC1P GRWD1 FLT3LG HRC ZNF473 CGB5 PTOV1-AS1 CYTH2 ZNF114 TULP2 GRIN2D MIR4749 SNAR-G1 LMTK3 CABP5 MIR4751 FCGRT SNAR-A4 FGF21 MED25 CD37 NUCB1 FUZ SNAR-G2 SPHK2 MIR5088 LOC105372430 SIGLEC11 NOSIP FUT2 MIR4750 RUVBL2 AP2A1 PLEKHA4 CA11 PPFIA3 CPT1C KCNA7 NTF4 PNKP SNAR-A5 TBC1D17 MIR6798 SNAR-A11 MIR6799 CARD8-AS1 CGB1 SLC6A16 SNAR-B1 SULT2B1 CCDC155 SNAR-D SNAR-A2 CARD8 FLJ26850 SNAR-A1 LIG1 SYNGR4 SNORD35B SNORD33 C19orf68 NUP62 SNAR-A14 SNRNP70 MIR4324 CGB2 CGB8 BSPH1 GFY SNORD35A BCAT2 RASIP1 SNAR-B2 SNAR-A8 LOC100287477 DKKL1 SNAR-A13 SNAR-A3 PPP1R15A HSD17B14 PIH1D1 PLA2G4C-AS1 LOC101928295 PTOV1 CCDC114 KDELR1 SNAR-A7 TRPM4 FTL C19orf73 TEAD2 ALDH16A1 PLA2G4C RCN3 MIR6800 RRAS BCL2L12 TMEM143 SPACA4 RPS11 AKT1S1 LIN7B MIR150 PTOV1-AS2 SNORD34 ELSPBP1 SIGLEC16 BAX LOC105447645 SNAR-C5 CGB7 IRF3 SCAF1 SNAR-C4 RPL18 KCNJ14 IZUMO1 LOC101059948 NUCB1-AS1 GYS1 SNAR-A6 SNAR-C2 SNAR-A12 PTH2 RPL13A VRK3 SNAR-A10 PRMT1 SNAR-C1 FUT1 ATF5 SNAR-C3 ADM5 FAM83E SLC17A7 TSKS PRR12 CGB3 NTN5 SNORD32A DBP SNAR-A9 PRRG2 DHDH IL4I1
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	SNRNP70 PPFIA3 TRPM4 LIN7B C19orf73 HRC
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	PPFIA3 TRPM4 LIN7B C19orf73 HRC
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	LOC101059948 NUCB1-AS1 GYS1 LHB NUCB1 MIR6798 SNAR-G2 CGB3 LIN7B CGB1 CGB5 SNRNP70 RUVBL2 BAX CGB2 CGB7 CGB8 PPFIA3 KCNA7 SNAR-G1 FTL DHDH C19orf73 NTF4
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	PPFIA3 TRPM4 LIN7B C19orf73 HRC
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	SNRNP70 PPFIA3 KCNA7 LIN7B C19orf73

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

neurotransmitter secretion
glutamate secretion
regulation of short-term neuronal synaptic plasticity

Function(s)

protein binding