Hs04027217_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49122529 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	NTF4 SNAR-G2 SNRNP70 PPFIA3 KCNA7 MIR6798 RUVBL2 CGB8 CGB1 LIN7B CGB5 CGB3 HRC SNAR-G1 TRPM4 CGB7 LOC101059948 CGB2 LHB C19orf73
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	SNRNP70 PPFIA3 LIN7B C19orf73
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	PTOV1 ZNF114 C19orf68 BCL2L12 SNORD34 RUVBL2 NUP62 CGB8 PTOV1-AS1 DBP TULP2 ALDH16A1 FCGRT SNAR-A1 RPL13A PLA2G4C-AS1 HRC SYNGR4 SULT2B1 FUT2 SNAR-A5 CYTH2 TRPM4 SNAR-C1 DKKL1 PTOV1-AS2 KCNJ14 ELSPBP1 LOC101928295 DHDH RRAS SNAR-A8 CCDC155 SPHK2 IL4I1 SNAR-A9 LOC105447645 CA11 GFY SNORD35B MIR150 CCDC114 LOC101059948 LHB SNAR-B2 MIR4324 MIR6800 SCAF1 EMP3 SNRNP70 KDELR1 ATF5 CGB1 ADM5 SLC6A16 CD37 CABP5 SLC17A7 CARD8-AS1 NOSIP CGB7 SPACA4 RPS11 SIGLEC16 GRIN2D TEAD2 FUZ TMEM143 CGB3 BAX FLT3LG FAM83E SNORD35A PRRG2 MIR4750 AP2A1 HSD17B14 SNAR-G2 LOC105372430 RPL18 PIH1D1 FGF21 SEC1P FTL LOC100287477 AKT1S1 SNAR-G1 MIR6799 PNKP SNAR-A7 SNAR-A10 BCAT2 SNAR-A6 MED25 SNAR-A4 NUCB1 NTN5 FUT1 MIR4749 CARD8 KCNA7 MIR4751 SNAR-A3 LIN7B LMTK3 LIG1 SNAR-A12 SNAR-C5 MIR5088 PRR12 SNAR-A11 FLJ26850 CGB2 NUCB1-AS1 PRMT1 TSKS NTF4 CPT1C SNAR-D SNAR-C4 SNORD33 VRK3 CGB5 SNAR-B1 MAMSTR PLA2G4C GYS1 IRF3 SNAR-A13 RASIP1 C19orf73 ZNF473 PPFIA3 SNAR-A14 GRWD1 SNAR-C2 MIR6798 SNAR-C3 SNORD32A IZUMO1 PTH2 PPP1R15A RCN3 PLEKHA4 TBC1D17 BSPH1 SNAR-A2 SIGLEC11
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	HRC SNRNP70 PPFIA3 TRPM4 LIN7B C19orf73
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	HRC PPFIA3 TRPM4 LIN7B C19orf73
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	NTF4 SNAR-G2 SNRNP70 PPFIA3 KCNA7 DHDH MIR6798 RUVBL2 CGB8 CGB1 LIN7B CGB5 CGB3 BAX FTL SNAR-G1 GYS1 CGB7 LOC101059948 CGB2 LHB C19orf73 NUCB1-AS1 NUCB1
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	HRC PPFIA3 TRPM4 LIN7B C19orf73
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	SNRNP70 PPFIA3 KCNA7 LIN7B C19orf73

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