Hs04022682_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49137205 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 15

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
	AK025972.1
	AK289757.1
	AK293798.1
	AK308483.1
	BC101518.1			AAI01519.1
	BC101520.1			AAI01521.1

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 KCNA7 CGB3 HRC SNRNP70 C19orf73 SNAR-G1 LOC101059948 CGB8 CGB5 RUVBL2 CGB1 SNAR-G2 PPFIA3 CGB2 NTF4 TRPM4 LHB LIN7B CGB7
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	SNRNP70 PPFIA3 C19orf73 LIN7B
nsv470149	Chr.19:49129515 - 49155110 on Build GRCh38	Loss	HRC PPFIA3
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	AKT1S1 CCDC114 SNAR-A2 SNAR-A3 IRF3 SCAF1 MIR6800 ALDH16A1 DHDH SNORD34 FUT1 RCN3 CGB8 SNORD33 SNAR-A1 VRK3 SNAR-D KDELR1 PIH1D1 RPL13A SNAR-A9 RASIP1 GRIN2D BSPH1 HRC RPL18 LOC105447645 MIR4749 SPACA4 MIR4324 SNAR-A6 NUCB1-AS1 PLA2G4C-AS1 FCGRT AP2A1 NTF4 LOC101928295 NTN5 FGF21 MIR150 MIR4751 CARD8-AS1 CGB3 SNAR-C4 ADM5 C19orf73 FUZ SNAR-A4 PTOV1-AS1 LMTK3 FLT3LG SNAR-A12 SLC17A7 CGB7 CYTH2 PLA2G4C SNAR-C3 MIR6799 PTOV1 SNAR-A7 SNAR-A14 EMP3 PNKP SIGLEC11 BAX CA11 SNAR-C2 C19orf68 PTH2 CGB1 LIG1 MIR4750 LHB TULP2 TEAD2 FUT2 PRR12 LIN7B NOSIP ELSPBP1 GYS1 SNRNP70 FLJ26850 CCDC155 SNAR-A11 KCNJ14 CPT1C CGB5 PPFIA3 SIGLEC16 BCL2L12 FTL SNAR-A10 MIR6798 SULT2B1 PRRG2 TMEM143 ZNF114 TSKS ZNF473 PTOV1-AS2 FAM83E SNAR-G1 CABP5 HSD17B14 SNAR-C1 GFY NUCB1 IZUMO1 ATF5 SNAR-B2 SPHK2 PLEKHA4 CARD8 RPS11 SNAR-A5 PRMT1 SNORD35B SNORD35A DKKL1 SNAR-G2 MAMSTR TRPM4 NUP62 PPP1R15A KCNA7 RRAS MIR5088 SYNGR4 LOC100287477 SNAR-B1 LOC105372430 IL4I1 SNORD32A LOC101059948 GRWD1 DBP CD37 MED25 BCAT2 RUVBL2 SLC6A16 CGB2 TBC1D17 SNAR-A8 SEC1P SNAR-A13 SNAR-C5
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	HRC SNRNP70 PPFIA3 TRPM4 C19orf73 LIN7B
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	HRC PPFIA3 TRPM4 C19orf73 LIN7B
nsv524235	Chr.19:49136745 - 49158770 on Build GRCh38	Gain	HRC PPFIA3 TRPM4
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	FTL MIR6798 KCNA7 GYS1 CGB3 SNRNP70 C19orf73 BAX DHDH SNAR-G1 LOC101059948 CGB8 CGB5 RUVBL2 NUCB1-AS1 NUCB1 CGB1 SNAR-G2 PPFIA3 CGB2 NTF4 LHB LIN7B CGB7
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	HRC PPFIA3 TRPM4 C19orf73 LIN7B
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	KCNA7 SNRNP70 PPFIA3 C19orf73 LIN7B
dgv667e214	Chr.19:49130606 - 49174364 on Build GRCh38	Gain	HRC PPFIA3 TRPM4

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