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

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