Hs01214295_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49130027 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: Overlaps Intron 5 - Exon 6

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

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

neurotransmitter secretion
glutamate secretion
regulation of short-term neuronal synaptic plasticity

Function(s)

protein binding