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