Hs04027710_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49120938 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	LIN7B C19orf73 PPFIA3 SNRNP70
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	C19orf73 PPFIA3 NTF4 LOC101059948 CGB1 CGB5 CGB2 RUVBL2 CGB3 MIR6798 HRC LHB LIN7B SNAR-G2 CGB8 KCNA7 SNAR-G1 CGB7 SNRNP70 TRPM4
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	ELSPBP1 SNORD32A SNAR-A14 FTL FLT3LG SNAR-A13 CARD8 GRIN2D SNAR-A9 ALDH16A1 TBC1D17 PTOV1 SEC1P NOSIP PRR12 SPHK2 GFY CARD8-AS1 SNAR-G1 SNAR-C3 LMTK3 SULT2B1 LIG1 RASIP1 LOC105447645 DHDH LOC101059948 SNAR-A5 IRF3 ZNF473 SNAR-A4 HSD17B14 C19orf68 SNAR-A8 CPT1C SNORD34 MIR4749 SNRNP70 SCAF1 TRPM4 SNAR-A7 SNORD35A TSKS SNORD33 FLJ26850 SLC6A16 DKKL1 BSPH1 GRWD1 MIR150 PPP1R15A SLC17A7 PTOV1-AS2 PLEKHA4 AKT1S1 PLA2G4C CGB7 LOC101928295 PRMT1 SNAR-A11 ATF5 SNORD35B FAM83E LOC100287477 SIGLEC11 CCDC114 PPFIA3 MIR4750 CCDC155 FCGRT LIN7B NUP62 FUT2 SIGLEC16 GYS1 SNAR-A6 MIR4324 FUZ SNAR-D NUCB1 NTN5 C19orf73 DBP BAX PTH2 CGB1 RCN3 AP2A1 SNAR-G2 CGB8 MED25 PNKP FGF21 SNAR-A2 BCL2L12 IZUMO1 TEAD2 NTF4 LOC105372430 CGB5 MAMSTR MIR5088 VRK3 HRC SNAR-C2 LHB MIR6799 KDELR1 BCAT2 SNAR-C1 SNAR-A12 KCNA7 SNAR-B2 RRAS IL4I1 TULP2 KCNJ14 SPACA4 RUVBL2 MIR6798 MIR6800 PTOV1-AS1 SNAR-A3 RPS11 SNAR-C5 NUCB1-AS1 SNAR-A1 CABP5 FUT1 PLA2G4C-AS1 PIH1D1 RPL18 MIR4751 CGB2 EMP3 CGB3 CD37 SYNGR4 SNAR-C4 CYTH2 SNAR-B1 SNAR-A10 ZNF114 PRRG2 CA11 TMEM143 RPL13A ADM5
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	LIN7B C19orf73 PPFIA3 SNRNP70 TRPM4 HRC
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	LIN7B C19orf73 PPFIA3 TRPM4 HRC
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	LIN7B C19orf73 PPFIA3 TRPM4 HRC
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	C19orf73 DHDH PPFIA3 NTF4 FTL BAX LOC101059948 CGB1 CGB5 CGB2 RUVBL2 CGB3 MIR6798 LHB LIN7B SNAR-G2 CGB8 KCNA7 NUCB1-AS1 SNAR-G1 GYS1 CGB7 SNRNP70 NUCB1
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	LIN7B C19orf73 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