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

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