Hs04027217_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49122529 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: Within Intron 1

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
	AK289757.1
	BC101518.1			AAI01519.1
	BC101520.1			AAI01521.1
	DA236900.1

Target Copy Number Variation Details

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

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

More Information

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

Gene Ontology Categories:

Process(es)

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

Function(s)

protein binding