Hs04025170_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49124524 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	PPFIA3 CGB8 NTF4 CGB7 LOC101059948 SNRNP70 TRPM4 LHB MIR6798 KCNA7 CGB1 LIN7B C19orf73 RUVBL2 HRC SNAR-G1 SNAR-G2 CGB2 CGB3 CGB5
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	LIN7B PPFIA3 C19orf73 SNRNP70
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	TMEM143 PRRG2 SULT2B1 GRIN2D SNAR-C2 FAM83E SNORD32A VRK3 RPS11 KCNJ14 ELSPBP1 RUVBL2 MIR4324 CA11 HRC SIGLEC11 AKT1S1 FUT2 NOSIP HSD17B14 SIGLEC16 SEC1P PRMT1 SNORD35B SLC6A16 KDELR1 TULP2 FCGRT KCNA7 GFY LIN7B NTN5 SNAR-A8 SNAR-C1 SNAR-A4 PRR12 PTOV1 SNAR-G1 SNAR-C5 PIH1D1 PLEKHA4 BAX CGB8 MIR6799 NTF4 MED25 SNORD34 SNAR-A7 SNAR-B2 CABP5 RPL13A SNORD33 SNORD35A IZUMO1 PTOV1-AS2 LOC105447645 CCDC155 LMTK3 SNAR-A9 FLT3LG SCAF1 LOC101059948 SNRNP70 SNAR-A1 TRPM4 CD37 RPL18 FUT1 LOC100287477 MIR6800 CYTH2 PNKP SNAR-A12 SNAR-B1 SNAR-C4 NUCB1 DKKL1 SNAR-A10 PTH2 SPACA4 TBC1D17 GRWD1 ZNF114 LOC105372430 PTOV1-AS1 ADM5 RCN3 BSPH1 SNAR-A11 CARD8-AS1 SNAR-A3 CPT1C FTL FGF21 ALDH16A1 SNAR-A2 EMP3 CGB7 DHDH LOC101928295 SLC17A7 BCL2L12 NUP62 MAMSTR CCDC114 DBP TSKS CGB3 PPP1R15A MIR4749 PPFIA3 MIR4750 PLA2G4C-AS1 MIR5088 SNAR-A13 MIR4751 RASIP1 SPHK2 SNAR-A14 C19orf68 NUCB1-AS1 CARD8 SYNGR4 C19orf73 GYS1 SNAR-C3 CGB2 PLA2G4C FUZ ZNF473 AP2A1 BCAT2 MIR150 TEAD2 LHB MIR6798 IRF3 FLJ26850 SNAR-A6 CGB1 IL4I1 LIG1 SNAR-G2 RRAS ATF5 SNAR-D SNAR-A5 CGB5
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	LIN7B PPFIA3 C19orf73 HRC SNRNP70 TRPM4
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	LIN7B PPFIA3 C19orf73 HRC TRPM4
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	BAX PPFIA3 CGB8 NTF4 CGB7 DHDH LOC101059948 SNRNP70 LHB MIR6798 KCNA7 CGB1 LIN7B NUCB1-AS1 C19orf73 RUVBL2 GYS1 SNAR-G1 SNAR-G2 CGB2 CGB3 FTL NUCB1 CGB5
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	LIN7B PPFIA3 C19orf73 HRC TRPM4
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	LIN7B PPFIA3 C19orf73 SNRNP70 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