Hs04016375_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49125845 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
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	CGB7 SNAR-G1 CGB3 C19orf73 PPFIA3 HRC TRPM4 CGB5 CGB2 LIN7B KCNA7 SNRNP70 CGB8 MIR6798 SNAR-G2 NTF4 RUVBL2 LOC101059948 LHB CGB1
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	SNRNP70 C19orf73 PPFIA3 LIN7B
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	FUZ SNAR-A10 FLT3LG PTOV1 SNAR-G1 SNAR-A1 SNORD34 PRMT1 CGB3 PPFIA3 AKT1S1 SNAR-A9 SNAR-A14 SNRNP70 CGB8 PLA2G4C RUVBL2 IRF3 RPL18 SPHK2 SNAR-A11 SNAR-B1 FCGRT SNAR-A6 PRRG2 CCDC114 DBP TSKS MIR6799 HSD17B14 PTH2 CCDC155 MIR4749 LOC105372430 BCL2L12 TEAD2 TBC1D17 SEC1P SNORD35A PLA2G4C-AS1 PTOV1-AS1 EMP3 FGF21 MIR4324 GRWD1 MIR6798 SLC6A16 KDELR1 IZUMO1 LHB SNAR-A3 VRK3 KCNJ14 PRR12 IL4I1 FTL HRC FAM83E MAMSTR LIG1 SNORD33 NOSIP SNORD35B NTF4 TULP2 SNAR-C4 LOC101059948 FUT2 CGB1 MIR150 C19orf73 MIR4751 BAX SNAR-A2 CARD8-AS1 DHDH SCAF1 C19orf68 PIH1D1 CD37 CGB5 LIN7B SNAR-A8 LOC101928295 RASIP1 LMTK3 FUT1 CYTH2 PNKP TMEM143 DKKL1 RRAS SNAR-A12 CPT1C GFY SNORD32A BSPH1 MIR5088 GYS1 CABP5 SIGLEC16 CGB2 RCN3 KCNA7 FLJ26850 ZNF473 SLC17A7 SNAR-C5 ADM5 PPP1R15A ELSPBP1 NTN5 SYNGR4 NUP62 LOC105447645 CARD8 NUCB1 SNAR-D MIR6800 TRPM4 SNAR-A13 CA11 SIGLEC11 SNAR-A7 SNAR-B2 ZNF114 SPACA4 LOC100287477 SULT2B1 ALDH16A1 NUCB1-AS1 RPL13A AP2A1 BCAT2 CGB7 SNAR-A5 PLEKHA4 RPS11 SNAR-C1 SNAR-A4 MIR4750 SNAR-C3 SNAR-C2 SNAR-G2 ATF5 MED25 GRIN2D PTOV1-AS2
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	SNRNP70 C19orf73 PPFIA3 HRC TRPM4 LIN7B
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	C19orf73 PPFIA3 HRC TRPM4 LIN7B
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	CGB7 SNAR-G1 CGB3 GYS1 C19orf73 BAX NUCB1 PPFIA3 DHDH FTL CGB5 CGB2 LIN7B KCNA7 SNRNP70 CGB8 MIR6798 SNAR-G2 NUCB1-AS1 NTF4 RUVBL2 LOC101059948 LHB CGB1
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	C19orf73 PPFIA3 HRC TRPM4 LIN7B
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	SNRNP70 C19orf73 PPFIA3 LIN7B KCNA7

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