Hs01199100_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49133022 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 7 - Exon 8

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
	AK025972.1
	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
nsv470149	Chr.19:49129515 - 49155110 on Build GRCh38	Loss	PPFIA3 HRC
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	LIN7B PPFIA3 C19orf73 SNRNP70
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	SNAR-G2 NTF4 CGB3 TRPM4 C19orf73 SNRNP70 HRC MIR6798 LOC101059948 RUVBL2 LIN7B PPFIA3 CGB5 LHB CGB8 CGB1 CGB7 KCNA7 CGB2 SNAR-G1
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	SNAR-A4 SNAR-G2 IL4I1 AKT1S1 MIR6800 SNAR-A6 HRC SNAR-A8 FAM83E LOC101059948 CD37 SCAF1 LOC105372430 C19orf68 MAMSTR CCDC155 FLT3LG FUT2 SNAR-A13 MIR4749 SNAR-B2 SLC6A16 TRPM4 CA11 RPL13A LOC100287477 SNORD33 LOC101928295 KCNJ14 PRMT1 CGB5 LHB VRK3 NTN5 SNAR-A2 PLEKHA4 NOSIP SNORD32A SNAR-C5 SEC1P NTF4 RPS11 SNRNP70 BSPH1 CARD8 GRIN2D FLJ26850 CGB7 SIGLEC11 SPHK2 NUP62 PLA2G4C EMP3 ELSPBP1 LMTK3 IRF3 SNORD35A SNAR-C2 GFY PPP1R15A CGB3 MIR4750 SNAR-A10 PLA2G4C-AS1 MIR4751 HSD17B14 ALDH16A1 PPFIA3 TMEM143 CCDC114 CARD8-AS1 CGB8 FUT1 TEAD2 KCNA7 SNAR-C4 SNAR-G1 BCAT2 RPL18 SLC17A7 SNAR-A14 TBC1D17 RASIP1 PTOV1-AS1 SNAR-A11 IZUMO1 TSKS SNAR-A9 ADM5 SULT2B1 SPACA4 MIR6799 ZNF114 C19orf73 DKKL1 MIR6798 FUZ FTL MIR150 SNAR-C1 BCL2L12 LIN7B CABP5 CPT1C KDELR1 SNAR-A1 SIGLEC16 AP2A1 SNAR-A5 PTH2 LOC105447645 NUCB1 GYS1 SNAR-A12 PRR12 RRAS MIR5088 SNAR-C3 MIR4324 SNAR-D SNAR-A7 RUVBL2 SNAR-A3 SYNGR4 DHDH FGF21 CGB2 BAX GRWD1 TULP2 RCN3 PRRG2 ZNF473 NUCB1-AS1 LIG1 SNORD34 PNKP CYTH2 PIH1D1 ATF5 SNAR-B1 SNORD35B PTOV1-AS2 CGB1 DBP PTOV1 MED25 FCGRT
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	LIN7B PPFIA3 TRPM4 C19orf73 SNRNP70 HRC
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	LIN7B PPFIA3 TRPM4 C19orf73 HRC
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	LIN7B PPFIA3 TRPM4 C19orf73 HRC
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	SNAR-G2 NUCB1 GYS1 NUCB1-AS1 NTF4 CGB3 C19orf73 SNRNP70 MIR6798 LOC101059948 FTL RUVBL2 LIN7B PPFIA3 CGB5 DHDH LHB CGB8 CGB1 CGB7 KCNA7 CGB2 BAX SNAR-G1
dgv667e214	Chr.19:49130606 - 49174364 on Build GRCh38	Gain	PPFIA3 TRPM4 HRC
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	LIN7B PPFIA3 KCNA7 C19orf73 SNRNP70

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