Hs01106512_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49128376 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: Overlaps Intron 2 - Exon 3

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
	AK293798.1
	AK308483.1	1	90
	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
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	PPFIA3 LIN7B SNRNP70 C19orf73
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	CGB7 TRPM4 RUVBL2 CGB2 SNRNP70 NTF4 C19orf73 CGB1 LOC101059948 PPFIA3 LHB SNAR-G2 LIN7B CGB5 CGB8 KCNA7 MIR6798 SNAR-G1 HRC CGB3
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	BCAT2 DHDH AP2A1 TRPM4 RUVBL2 PTH2 MED25 LOC101059948 PIH1D1 CCDC155 SNAR-A13 FGF21 RPL18 FLT3LG SNAR-D PNKP SNAR-C3 IRF3 RPL13A TULP2 SNAR-A14 MIR150 SNAR-A1 CGB3 LOC100287477 CPT1C KDELR1 SULT2B1 BAX LMTK3 PTOV1-AS1 CYTH2 CGB8 GYS1 CA11 SNAR-A3 FLJ26850 IZUMO1 FTL MIR6800 LOC105447645 SNORD33 BCL2L12 IL4I1 PPP1R15A MIR4751 PLEKHA4 SNAR-G2 DBP GRWD1 LIG1 PTOV1-AS2 SNAR-A9 SNAR-C5 SNORD35A CCDC114 PRRG2 SNAR-A10 GFY AKT1S1 BSPH1 SNAR-C4 NOSIP RCN3 SNAR-A7 DKKL1 SNAR-C1 SPACA4 ADM5 NTN5 SNAR-A2 MIR6798 ZNF114 RRAS NUCB1 FUT2 SNAR-A5 RASIP1 C19orf73 SNORD35B CGB1 ELSPBP1 SLC6A16 PPFIA3 RPS11 FAM83E TMEM143 PRMT1 NUCB1-AS1 CGB5 KCNA7 MIR5088 CARD8-AS1 GRIN2D HRC SNAR-A4 PLA2G4C-AS1 CGB7 CARD8 CGB2 SNAR-A11 SYNGR4 FCGRT PLA2G4C SLC17A7 LHB SNAR-B2 TSKS KCNJ14 SIGLEC16 SNAR-A12 SEC1P SNAR-C2 PTOV1 PRR12 MIR4749 SNRNP70 EMP3 LOC105372430 NTF4 SNORD34 SNORD32A NUP62 MIR4324 MIR6799 LIN7B SCAF1 MAMSTR ATF5 MIR4750 SPHK2 VRK3 SNAR-G1 SNAR-A6 FUT1 CD37 SIGLEC11 LOC101928295 ZNF473 CABP5 SNAR-A8 ALDH16A1 SNAR-B1 C19orf68 HSD17B14 TBC1D17 FUZ TEAD2
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	PPFIA3 TRPM4 LIN7B SNRNP70 C19orf73 HRC
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	PPFIA3 TRPM4 LIN7B C19orf73 HRC
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	PPFIA3 TRPM4 LIN7B C19orf73 HRC
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	CGB7 DHDH NUCB1 RUVBL2 CGB2 SNRNP70 BAX NTF4 C19orf73 CGB1 LOC101059948 PPFIA3 LHB SNAR-G2 LIN7B NUCB1-AS1 CGB5 CGB8 KCNA7 GYS1 MIR6798 SNAR-G1 FTL CGB3
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	PPFIA3 LIN7B SNRNP70 KCNA7 C19orf73

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

neurotransmitter secretion
glutamate secretion
regulation of short-term neuronal synaptic plasticity

Function(s)

protein binding