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