Hs04023611_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49126852 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	SNRNP70 LIN7B C19orf73 PPFIA3
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	SNAR-G1 LHB TRPM4 MIR6798 KCNA7 HRC NTF4 CGB5 CGB7 CGB2 SNRNP70 LIN7B LOC101059948 CGB1 SNAR-G2 CGB3 C19orf73 RUVBL2 CGB8 PPFIA3
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	SPACA4 SNORD35B ELSPBP1 MIR6800 SNAR-A14 BCAT2 SCAF1 CARD8-AS1 SNAR-A4 PTH2 RUVBL2 GYS1 TSKS MIR4749 IRF3 SNORD35A PTOV1-AS2 MIR5088 CGB7 IL4I1 CGB1 TBC1D17 PRR12 SNAR-G2 HSD17B14 SNORD34 TULP2 SNAR-B1 C19orf73 PIH1D1 KDELR1 PLA2G4C NOSIP CGB8 NUCB1-AS1 SNAR-A1 SNAR-A10 CA11 CYTH2 FUT1 NTN5 SNAR-A7 CGB5 AP2A1 SNAR-D SNRNP70 DBP LOC105447645 MAMSTR BCL2L12 CABP5 PTOV1 TEAD2 FTL SNAR-A11 ADM5 SNAR-A5 LHB LOC100287477 RRAS MIR6798 GRIN2D SULT2B1 PLA2G4C-AS1 PPP1R15A NTF4 SNORD32A SNAR-A6 BSPH1 PNKP SNAR-C1 PLEKHA4 SLC6A16 TMEM143 SLC17A7 VRK3 SNAR-G1 SNAR-A13 FCGRT TRPM4 DHDH MIR6799 SNAR-C4 SNAR-C2 SNAR-B2 GRWD1 KCNA7 ZNF114 MIR4750 MIR4324 ZNF473 CCDC114 FUZ SYNGR4 FLT3LG ALDH16A1 MED25 BAX SIGLEC11 DKKL1 PRMT1 EMP3 SEC1P RPL13A CPT1C C19orf68 CARD8 SNAR-C3 PTOV1-AS1 FGF21 SPHK2 SNAR-A3 GFY NUCB1 MIR4751 LOC105372430 SNAR-C5 RPL18 MIR150 LOC101928295 IZUMO1 SNAR-A8 SIGLEC16 CD37 CGB2 CCDC155 LOC101059948 RCN3 AKT1S1 KCNJ14 SNORD33 RPS11 PPFIA3 NUP62 SNAR-A9 FAM83E RASIP1 FUT2 FLJ26850 HRC PRRG2 SNAR-A2 LIG1 SNAR-A12 LIN7B CGB3 LMTK3 ATF5
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	SNRNP70 LIN7B TRPM4 C19orf73 HRC PPFIA3
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	LIN7B TRPM4 C19orf73 HRC PPFIA3
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	LIN7B TRPM4 C19orf73 HRC PPFIA3
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	NUCB1-AS1 SNAR-G1 NUCB1 LHB BAX DHDH MIR6798 KCNA7 NTF4 CGB5 CGB7 CGB2 SNRNP70 LIN7B LOC101059948 CGB1 SNAR-G2 CGB3 FTL C19orf73 RUVBL2 CGB8 PPFIA3 GYS1
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	SNRNP70 LIN7B C19orf73 KCNA7 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