Hs02152183_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49134054 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 10 - Exon 11

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
nsv470149	Chr.19:49129515 - 49155110 on Build GRCh38	Loss	PPFIA3 HRC
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	PPFIA3 C19orf73 SNRNP70 LIN7B
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	KCNA7 HRC CGB1 LOC101059948 CGB2 C19orf73 SNAR-G2 RUVBL2 LIN7B MIR6798 CGB8 PPFIA3 NTF4 CGB5 CGB3 TRPM4 SNAR-G1 SNRNP70 LHB CGB7
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	LOC101059948 NTN5 CGB2 C19orf73 SNAR-C2 FUT1 SYNGR4 RUVBL2 MED25 PLEKHA4 SNORD35A PTOV1-AS2 PLA2G4C SNORD32A FCGRT SNAR-A1 SNORD34 PIH1D1 SCAF1 LOC105372430 ALDH16A1 MAMSTR RASIP1 PLA2G4C-AS1 SIGLEC11 TBC1D17 SPHK2 LIN7B RCN3 MIR4751 GFY ELSPBP1 CARD8-AS1 PTH2 MIR6799 BSPH1 KCNA7 HRC LMTK3 SNAR-G2 C19orf68 MIR5088 SEC1P SNAR-B1 SNAR-B2 TSKS LOC101928295 PPFIA3 NTF4 FGF21 CD37 KCNJ14 SNRNP70 LHB FTL VRK3 MIR6798 SNAR-A14 CGB8 SLC17A7 KDELR1 HSD17B14 SLC6A16 DKKL1 PTOV1-AS1 PTOV1 BCAT2 CCDC155 FUZ CARD8 PPP1R15A LIG1 DBP CABP5 SULT2B1 EMP3 RPS11 CCDC114 NUCB1 TEAD2 SPACA4 CGB3 PNKP TRPM4 CGB7 AKT1S1 CGB1 ZNF114 MIR150 PRMT1 LOC100287477 ADM5 CYTH2 SNAR-A5 SNAR-A11 PRR12 SNORD33 AP2A1 MIR4750 SNAR-A13 IL4I1 TMEM143 NOSIP GRIN2D TULP2 SIGLEC16 CA11 ATF5 LOC105447645 CPT1C SNAR-A2 RRAS MIR4749 DHDH SNAR-A7 SNAR-A4 SNAR-C1 BCL2L12 FUT2 CGB5 SNAR-A6 MIR4324 FLJ26850 BAX SNAR-C5 SNAR-C4 SNAR-A3 ZNF473 RPL13A PRRG2 SNAR-D SNORD35B FLT3LG SNAR-A8 NUCB1-AS1 IRF3 SNAR-A10 GRWD1 FAM83E NUP62 SNAR-A12 SNAR-A9 MIR6800 RPL18 IZUMO1 SNAR-G1 SNAR-C3 GYS1
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	PPFIA3 HRC C19orf73 TRPM4 SNRNP70 LIN7B
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	PPFIA3 HRC C19orf73 TRPM4 LIN7B
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	PPFIA3 HRC C19orf73 TRPM4 LIN7B
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	KCNA7 CGB1 LOC101059948 CGB2 C19orf73 SNAR-G2 FTL RUVBL2 NUCB1-AS1 LIN7B MIR6798 DHDH NUCB1 CGB8 PPFIA3 NTF4 CGB5 CGB3 SNAR-G1 SNRNP70 LHB CGB7 GYS1 BAX
dgv667e214	Chr.19:49130606 - 49174364 on Build GRCh38	Gain	PPFIA3 HRC TRPM4
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	PPFIA3 KCNA7 C19orf73 SNRNP70 LIN7B

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