Hs04025170_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49124524 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	C19orf73 PPFIA3 SNRNP70 LIN7B
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	MIR6798 SNAR-G1 CGB2 HRC CGB5 CGB3 CGB8 KCNA7 TRPM4 LOC101059948 LIN7B LHB CGB7 SNAR-G2 NTF4 C19orf73 PPFIA3 SNRNP70 RUVBL2 CGB1
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	GYS1 IL4I1 FGF21 CGB8 SNAR-C5 NUCB1-AS1 PTOV1-AS2 CCDC155 SNAR-C4 ZNF473 SNAR-A4 SCAF1 MIR6799 SNAR-D RPS11 PTOV1 SNORD35B SNAR-C1 PPP1R15A CGB1 CCDC114 MIR6798 MIR150 DKKL1 SNAR-A3 SNAR-A2 SPHK2 SNAR-A1 BCAT2 TRPM4 BAX SNAR-A8 ELSPBP1 NTF4 C19orf73 FUT2 KCNJ14 MIR4751 CD37 SNAR-C2 FUZ SNAR-B2 CGB2 HSD17B14 KCNA7 NOSIP SNAR-C3 MAMSTR MIR4749 TULP2 NTN5 PPFIA3 SNRNP70 LOC100287477 ADM5 LOC105447645 PRR12 RASIP1 RRAS NUP62 SLC6A16 SNORD34 SLC17A7 FLT3LG LHB CGB7 SNAR-A12 SNORD35A LOC105372430 SNAR-B1 PTOV1-AS1 FAM83E IRF3 AKT1S1 MED25 SNAR-A6 SYNGR4 CABP5 SNAR-G1 SIGLEC11 CGB5 VRK3 ATF5 SULT2B1 LIN7B SNAR-G2 GRWD1 SNORD32A FUT1 FTL DHDH KDELR1 PLA2G4C LOC101928295 CARD8-AS1 TBC1D17 PIH1D1 HRC MIR6800 PRMT1 GRIN2D TSKS BSPH1 PLEKHA4 SNAR-A13 SNAR-A9 AP2A1 MIR4750 IZUMO1 SNAR-A11 ALDH16A1 C19orf68 LMTK3 SEC1P SNAR-A14 SNAR-A10 CYTH2 SNAR-A7 FCGRT CGB3 TMEM143 SPACA4 PNKP LOC101059948 SNORD33 TEAD2 LIG1 CARD8 PTH2 RUVBL2 RCN3 DBP PLA2G4C-AS1 CPT1C ZNF114 MIR4324 CA11 SNAR-A5 FLJ26850 PRRG2 RPL18 EMP3 RPL13A GFY NUCB1 SIGLEC16 MIR5088 BCL2L12
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	C19orf73 HRC PPFIA3 SNRNP70 TRPM4 LIN7B
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	C19orf73 HRC PPFIA3 TRPM4 LIN7B
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	C19orf73 HRC PPFIA3 TRPM4 LIN7B
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	MIR6798 SNAR-G1 CGB2 GYS1 CGB5 CGB3 CGB8 KCNA7 LOC101059948 LIN7B LHB BAX NUCB1-AS1 CGB7 SNAR-G2 NTF4 C19orf73 FTL NUCB1 DHDH PPFIA3 SNRNP70 RUVBL2 CGB1
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	C19orf73 KCNA7 PPFIA3 SNRNP70 LIN7B

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