Hs02912910_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49128125 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 Exon 2 - Intron 2

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

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

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