Hs00468698_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49129486 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 5

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