Hs04016375_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49125845 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	PPFIA3 C19orf73 LIN7B SNRNP70
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	SNAR-G2 KCNA7 CGB7 NTF4 CGB1 LIN7B CGB3 HRC LOC101059948 SNRNP70 CGB2 MIR6798 RUVBL2 LHB SNAR-G1 PPFIA3 C19orf73 TRPM4 CGB5 CGB8
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	LOC100287477 SEC1P SNAR-A4 FCGRT SLC17A7 CGB1 LOC101928295 LMTK3 VRK3 BAX CD37 FUZ PTH2 MIR6800 SNAR-C3 SNAR-B2 SNAR-C4 LOC105447645 MIR4749 RPL18 IL4I1 CARD8-AS1 TEAD2 PRR12 ZNF473 DBP CGB2 FLJ26850 ELSPBP1 RPL13A LHB RCN3 MIR4751 BCAT2 SPACA4 SNAR-A12 PTOV1-AS2 SNAR-G2 GYS1 FTL CCDC155 CARD8 SNAR-C5 BCL2L12 SNAR-A10 SNRNP70 IZUMO1 MIR6798 EMP3 NUP62 SNAR-A7 SNAR-C1 C19orf73 CGB5 MED25 ATF5 SIGLEC11 TMEM143 C19orf68 SNORD32A KCNA7 PPP1R15A NUCB1-AS1 SNAR-C2 PNKP CGB3 SNAR-A13 LOC101059948 FUT2 CABP5 SNAR-G1 TULP2 PRMT1 SNORD33 FGF21 CGB8 FAM83E NTF4 KCNJ14 IRF3 ZNF114 TBC1D17 SNORD34 SNAR-A5 SPHK2 CYTH2 PLA2G4C MIR5088 SNAR-A2 SNAR-A1 SNORD35A CCDC114 GFY RPS11 CA11 SNAR-A8 DKKL1 ALDH16A1 NOSIP LIN7B PTOV1-AS1 HRC ADM5 BSPH1 AP2A1 MIR4750 PPFIA3 PLEKHA4 GRIN2D SCAF1 SNAR-D SYNGR4 CGB7 PRRG2 SNORD35B KDELR1 PTOV1 SNAR-B1 RRAS LIG1 SNAR-A11 GRWD1 LOC105372430 MAMSTR NUCB1 CPT1C MIR150 SLC6A16 PIH1D1 SIGLEC16 FLT3LG AKT1S1 HSD17B14 MIR4324 FUT1 SNAR-A6 NTN5 PLA2G4C-AS1 RUVBL2 SNAR-A14 SNAR-A9 RASIP1 TRPM4 DHDH SNAR-A3 TSKS SULT2B1 MIR6799
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	PPFIA3 C19orf73 TRPM4 LIN7B HRC SNRNP70
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	PPFIA3 C19orf73 TRPM4 LIN7B HRC
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	PPFIA3 C19orf73 TRPM4 LIN7B HRC
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	SNAR-G2 GYS1 KCNA7 CGB7 NUCB1-AS1 NTF4 FTL CGB1 LIN7B CGB3 LOC101059948 SNRNP70 BAX CGB2 MIR6798 RUVBL2 LHB SNAR-G1 PPFIA3 C19orf73 DHDH CGB5 NUCB1 CGB8
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	KCNA7 PPFIA3 C19orf73 LIN7B 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