Hs04023126_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49125399 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	LIN7B SNAR-G2 CGB5 CGB7 CGB3 LHB NTF4 TRPM4 C19orf73 SNAR-G1 CGB1 KCNA7 HRC CGB8 MIR6798 PPFIA3 LOC101059948 CGB2 SNRNP70 RUVBL2
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	LIN7B C19orf73 PPFIA3 SNRNP70
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	CYTH2 LOC101928295 PTOV1-AS2 BAX ATF5 SNAR-A6 SNORD35A SNORD32A IZUMO1 LOC105372430 CPT1C MIR4750 IRF3 TSKS SIGLEC11 NTN5 SNAR-A11 SNAR-C4 CARD8 ELSPBP1 PLA2G4C SNAR-A14 CGB8 MIR6798 RPS11 VRK3 SNAR-C5 HSD17B14 SNAR-D SNAR-A1 PTOV1 SPHK2 SNAR-A9 GRWD1 SYNGR4 SCAF1 CCDC155 MIR4751 NOSIP TMEM143 PRR12 PTH2 SNORD33 FLJ26850 SNORD35B LMTK3 FTL CGB7 SNAR-C1 SNAR-A10 PLA2G4C-AS1 DKKL1 SNAR-A13 PPP1R15A SNAR-A3 FUT2 RPL18 SNAR-A4 CCDC114 MIR4324 PRRG2 LOC100287477 GFY DBP DHDH CGB5 PTOV1-AS1 GRIN2D LHB NTF4 PRMT1 TBC1D17 MAMSTR ALDH16A1 CD37 CA11 MIR6799 KDELR1 EMP3 MED25 FUZ SLC17A7 FGF21 SNAR-A2 LIG1 CGB1 FCGRT SNAR-A12 C19orf68 CGB2 SNRNP70 NUCB1-AS1 CABP5 PLEKHA4 FAM83E GYS1 SLC6A16 SNAR-B1 TRPM4 MIR150 BCL2L12 RUVBL2 PNKP PIH1D1 SNAR-A5 SNAR-G2 RASIP1 FLT3LG SNAR-C2 MIR4749 CGB3 IL4I1 SIGLEC16 MIR5088 RPL13A TEAD2 ADM5 SNAR-A7 SNORD34 KCNA7 RRAS ZNF114 SNAR-A8 CARD8-AS1 RCN3 FUT1 HRC PPFIA3 NUP62 TULP2 LIN7B SULT2B1 ZNF473 LOC105447645 SEC1P BSPH1 SPACA4 MIR6800 KCNJ14 C19orf73 SNAR-G1 SNAR-B2 LOC101059948 SNAR-C3 AKT1S1 AP2A1 BCAT2 NUCB1
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	LIN7B C19orf73 HRC PPFIA3 SNRNP70 TRPM4
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	LIN7B C19orf73 HRC PPFIA3 TRPM4
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	LIN7B BAX DHDH SNAR-G2 NUCB1-AS1 FTL CGB5 CGB7 CGB3 LHB GYS1 NTF4 C19orf73 SNAR-G1 CGB1 KCNA7 CGB8 MIR6798 PPFIA3 LOC101059948 CGB2 SNRNP70 RUVBL2 NUCB1
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	LIN7B C19orf73 HRC PPFIA3 TRPM4
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	LIN7B C19orf73 KCNA7 PPFIA3 SNRNP70

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