Hs01487440_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49128861 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 3 - Exon 4

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