Hs04011455_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49137833 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 15

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
	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	SNRNP70 CGB5 C19orf73 SNAR-G1 PPFIA3 KCNA7 CGB1 CGB3 LHB MIR6798 RUVBL2 LIN7B TRPM4 SNAR-G2 LOC101059948 NTF4 CGB7 CGB8 CGB2 HRC
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	SNRNP70 C19orf73 PPFIA3 LIN7B
nsv470149	Chr.19:49129515 - 49155110 on Build GRCh38	Loss	PPFIA3 HRC
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	ZNF114 VRK3 NUCB1-AS1 SNAR-C2 PRMT1 SNORD34 SNAR-G2 PTOV1-AS1 SPACA4 SNORD35A PLEKHA4 RRAS BCL2L12 TMEM143 LOC105447645 SEC1P SNAR-A3 RPL18 SULT2B1 EMP3 KCNA7 CGB3 SNAR-A11 SNAR-A6 MIR6798 SNAR-A13 MIR6799 TEAD2 SNAR-A2 SNAR-D HSD17B14 FUZ LOC105372430 GRWD1 TULP2 CCDC114 CGB5 SLC17A7 RPL13A SIGLEC11 SNORD35B SNAR-A8 NTF4 FUT2 FGF21 SNORD32A BSPH1 LOC101928295 PNKP PLA2G4C IRF3 SNAR-G1 AKT1S1 PRR12 IZUMO1 PLA2G4C-AS1 LOC101059948 LOC100287477 LIG1 KDELR1 CARD8 FCGRT CPT1C FUT1 NUCB1 FLJ26850 PPFIA3 CARD8-AS1 RASIP1 SNAR-C3 PTOV1-AS2 CGB7 RPS11 SLC6A16 CABP5 SNAR-B1 LMTK3 GYS1 MIR6800 TBC1D17 SNAR-A10 CA11 SNORD33 ALDH16A1 IL4I1 FLT3LG SNAR-C4 ADM5 MIR4749 PTOV1 C19orf68 TRPM4 TSKS MIR5088 PRRG2 DHDH SNAR-A9 BCAT2 ATF5 CGB8 SNAR-A5 SNAR-A14 FAM83E CGB2 PPP1R15A KCNJ14 SCAF1 CCDC155 NUP62 SNRNP70 SYNGR4 C19orf73 SNAR-A7 BAX SNAR-A12 CGB1 AP2A1 MIR4324 LHB PTH2 SNAR-A4 RUVBL2 LIN7B DKKL1 SIGLEC16 SNAR-C5 NOSIP GRIN2D CD37 CYTH2 PIH1D1 MIR4751 SNAR-B2 RCN3 SNAR-A1 SPHK2 SNAR-C1 MIR4750 MAMSTR NTN5 GFY MIR150 FTL ELSPBP1 DBP MED25 ZNF473 HRC
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	TRPM4 SNRNP70 C19orf73 PPFIA3 HRC LIN7B
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	TRPM4 C19orf73 PPFIA3 HRC LIN7B
nsv524235	Chr.19:49136745 - 49158770 on Build GRCh38	Gain	TRPM4 PPFIA3 HRC
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	GYS1 SNRNP70 CGB5 C19orf73 SNAR-G1 BAX NUCB1 PPFIA3 NUCB1-AS1 KCNA7 CGB1 CGB3 LHB MIR6798 RUVBL2 LIN7B SNAR-G2 LOC101059948 NTF4 FTL DHDH CGB7 CGB8 CGB2
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	TRPM4 C19orf73 PPFIA3 HRC LIN7B
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	SNRNP70 C19orf73 PPFIA3 KCNA7 LIN7B
dgv667e214	Chr.19:49130606 - 49174364 on Build GRCh38	Gain	TRPM4 PPFIA3 HRC

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