Hs04015971_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49123895 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	MIR6798 CGB2 C19orf73 CGB8 KCNA7 PPFIA3 SNAR-G2 CGB3 CGB1 CGB5 LIN7B NTF4 RUVBL2 HRC TRPM4 SNAR-G1 LHB SNRNP70 LOC101059948 CGB7
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	LIN7B C19orf73 SNRNP70 PPFIA3
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	SNORD34 PLA2G4C-AS1 TSKS IL4I1 SULT2B1 MED25 ZNF473 NUCB1-AS1 CGB3 SNAR-A13 PTH2 NTF4 MIR4750 ELSPBP1 SNRNP70 RPL18 RCN3 FUT2 HSD17B14 SNAR-B2 BCAT2 CA11 SNAR-A8 MAMSTR IRF3 SNAR-C2 TBC1D17 CGB1 SIGLEC11 SNAR-A12 TRPM4 PIH1D1 KCNJ14 PTOV1 LOC101059948 CCDC155 PPP1R15A SNAR-C4 PRMT1 CGB8 FUT1 FAM83E PPFIA3 SLC17A7 SNAR-A14 MIR4324 NUP62 ADM5 CD37 FGF21 SNORD32A HRC SNAR-D SNAR-B1 SNAR-A5 CABP5 MIR4749 SIGLEC16 SNAR-A11 RASIP1 PTOV1-AS1 LIG1 PLA2G4C CGB5 SNAR-C5 DKKL1 SNAR-A7 LOC100287477 GFY RUVBL2 LMTK3 SLC6A16 SNAR-A10 RPS11 FLJ26850 PRR12 DBP FTL BSPH1 C19orf73 KCNA7 MIR5088 C19orf68 SPACA4 BAX DHDH GYS1 IZUMO1 SNAR-A2 GRIN2D SEC1P PNKP LHB TMEM143 LOC105447645 SNAR-A4 NUCB1 SNORD35A KDELR1 MIR6798 CYTH2 MIR6799 CGB2 AKT1S1 SNORD33 SNAR-G2 FCGRT SNORD35B PRRG2 LOC105372430 SNAR-A6 NOSIP SNAR-A3 MIR6800 CCDC114 MIR4751 PTOV1-AS2 SYNGR4 BCL2L12 TEAD2 FLT3LG GRWD1 SNAR-C1 SNAR-A9 EMP3 LIN7B LOC101928295 ZNF114 CARD8 SNAR-G1 SCAF1 AP2A1 SNAR-A1 VRK3 NTN5 ATF5 CARD8-AS1 ALDH16A1 RPL13A CPT1C SPHK2 SNAR-C3 RRAS MIR150 TULP2 PLEKHA4 FUZ CGB7
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	LIN7B C19orf73 HRC TRPM4 SNRNP70 PPFIA3
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	LIN7B C19orf73 HRC TRPM4 PPFIA3
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	MIR6798 CGB2 C19orf73 CGB8 KCNA7 PPFIA3 BAX SNAR-G2 DHDH GYS1 NUCB1-AS1 CGB3 CGB1 CGB5 LIN7B NTF4 RUVBL2 SNAR-G1 LHB SNRNP70 NUCB1 LOC101059948 FTL CGB7
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	LIN7B C19orf73 HRC TRPM4 PPFIA3
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	LIN7B C19orf73 KCNA7 SNRNP70 PPFIA3

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