Hs04012082_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49121999 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 PPFIA3 LIN7B C19orf73
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	SNRNP70 KCNA7 RUVBL2 CGB8 TRPM4 SNAR-G1 SNAR-G2 C19orf73 CGB3 LOC101059948 HRC CGB2 NTF4 LHB MIR6798 CGB7 PPFIA3 LIN7B CGB1 CGB5
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	SLC6A16 TULP2 BCAT2 LOC105447645 PTOV1-AS1 SPHK2 SNAR-A11 NUCB1-AS1 SNAR-G2 C19orf73 MIR4751 SNAR-A14 CARD8-AS1 SNAR-A13 SNAR-A8 KCNJ14 TBC1D17 IZUMO1 AKT1S1 CD37 FAM83E DKKL1 CCDC155 SNAR-A6 SNAR-A2 KDELR1 MIR150 SNAR-C3 PTH2 BAX DBP FUT1 LHB HSD17B14 PRMT1 PLA2G4C-AS1 RPL18 CCDC114 PTOV1-AS2 SNORD33 PTOV1 ZNF473 SCAF1 SNORD35A MIR6800 CABP5 MIR5088 MIR4750 MIR4749 SYNGR4 SPACA4 LOC101928295 GFY FCGRT SNORD35B ELSPBP1 SNAR-C2 SNAR-A4 SLC17A7 SNAR-C5 KCNA7 GRIN2D PRR12 RPS11 FGF21 SNAR-A7 SNAR-A1 NTN5 IL4I1 SNAR-B1 HRC GRWD1 FUZ FTL SIGLEC16 SNORD34 RASIP1 PPP1R15A CA11 BSPH1 TMEM143 SNAR-D CGB5 FUT2 MAMSTR SULT2B1 CGB8 TSKS TRPM4 PRRG2 SNAR-A12 EMP3 BCL2L12 SNAR-A9 RCN3 LIG1 NUCB1 SNAR-A3 MIR6799 SNAR-A10 ALDH16A1 ATF5 RUVBL2 NUP62 SNAR-C1 RRAS LOC101059948 CPT1C SNAR-C4 CGB2 CYTH2 MIR6798 ZNF114 LMTK3 FLJ26850 IRF3 SNRNP70 PLA2G4C FLT3LG NOSIP PIH1D1 DHDH SNORD32A GYS1 MED25 PLEKHA4 RPL13A CARD8 LIN7B CGB1 SIGLEC11 C19orf68 VRK3 SEC1P MIR4324 PNKP LOC100287477 SNAR-G1 SNAR-B2 CGB3 NTF4 LOC105372430 AP2A1 TEAD2 CGB7 PPFIA3 ADM5 SNAR-A5
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	SNRNP70 HRC TRPM4 PPFIA3 LIN7B C19orf73
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	HRC TRPM4 PPFIA3 LIN7B C19orf73
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	HRC TRPM4 PPFIA3 LIN7B C19orf73
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	SNRNP70 KCNA7 RUVBL2 CGB8 SNAR-G1 NUCB1-AS1 SNAR-G2 C19orf73 CGB3 BAX LOC101059948 CGB2 NTF4 LHB MIR6798 DHDH NUCB1 GYS1 FTL CGB7 PPFIA3 LIN7B CGB1 CGB5
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	SNRNP70 KCNA7 PPFIA3 LIN7B C19orf73

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