Hs04027710_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49120938 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	CGB3 HRC CGB5 SNRNP70 LOC101059948 LHB SNAR-G1 CGB8 PPFIA3 CGB7 TRPM4 CGB1 KCNA7 NTF4 LIN7B CGB2 C19orf73 RUVBL2 MIR6798 SNAR-G2
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	LIN7B C19orf73 SNRNP70 PPFIA3
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	CGB3 SNAR-A4 FLT3LG FUT2 LOC101059948 MIR150 RASIP1 SEC1P SNAR-B2 PLA2G4C-AS1 SNAR-A14 FUZ CGB1 TSKS ELSPBP1 SIGLEC16 FGF21 AP2A1 GRWD1 HSD17B14 SNAR-D MIR5088 SNAR-C4 FUT1 LIG1 TULP2 ATF5 ALDH16A1 NUP62 CARD8-AS1 MIR4324 TRPM4 NTF4 PLA2G4C PLEKHA4 ZNF114 MIR6798 VRK3 CA11 GRIN2D SNAR-G2 PPP1R15A TMEM143 MIR6799 CCDC114 SNORD33 SNAR-B1 RRAS EMP3 SLC17A7 CGB8 SNAR-A6 FTL PTOV1-AS1 MED25 MIR4749 FAM83E SNAR-A10 SNAR-C1 MAMSTR SULT2B1 CPT1C SNAR-A3 TEAD2 RUVBL2 DHDH BCAT2 PRRG2 LMTK3 KDELR1 SNAR-C5 CGB5 BSPH1 SNAR-A8 SNRNP70 SNAR-A11 IRF3 CARD8 PRMT1 LOC100287477 FLJ26850 C19orf73 TBC1D17 DKKL1 ZNF473 PTH2 RPL18 RPL13A SNAR-A1 PTOV1 NUCB1-AS1 MIR4751 LHB CGB7 LIN7B SNAR-A13 MIR6800 PTOV1-AS2 SNORD35B CABP5 RCN3 BAX SNAR-C3 HRC SNAR-C2 IL4I1 SYNGR4 CD37 NUCB1 C19orf68 PNKP SNAR-A9 LOC101928295 GYS1 SNORD35A SIGLEC11 GFY SPHK2 SNAR-A2 CGB2 BCL2L12 LOC105372430 PRR12 SLC6A16 SNAR-A12 AKT1S1 SPACA4 KCNJ14 NTN5 RPS11 SNAR-A7 NOSIP CCDC155 SNAR-G1 MIR4750 PPFIA3 LOC105447645 KCNA7 FCGRT SNORD34 ADM5 DBP SNORD32A PIH1D1 SCAF1 IZUMO1 CYTH2 SNAR-A5
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	HRC TRPM4 LIN7B C19orf73 SNRNP70 PPFIA3
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	HRC TRPM4 LIN7B C19orf73 PPFIA3
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	CGB3 NUCB1 CGB5 GYS1 NUCB1-AS1 SNRNP70 LOC101059948 LHB SNAR-G1 CGB8 PPFIA3 CGB7 CGB1 KCNA7 NTF4 LIN7B FTL CGB2 C19orf73 RUVBL2 MIR6798 DHDH BAX SNAR-G2
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	HRC TRPM4 LIN7B C19orf73 PPFIA3
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	KCNA7 LIN7B C19orf73 SNRNP70 PPFIA3

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