Hs01106512_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49128376 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 2 - Exon 3

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
	AK293798.1
	AK308483.1	1	90
	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	CGB3 LOC101059948 MIR6798 NTF4 CGB2 KCNA7 RUVBL2 LIN7B CGB1 HRC LHB TRPM4 CGB7 CGB8 CGB5 C19orf73 SNAR-G2 SNAR-G1 SNRNP70 PPFIA3
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	C19orf73 SNRNP70 PPFIA3 LIN7B
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	CGB3 ZNF473 SNAR-B2 FUZ BAX FCGRT PTOV1-AS1 CABP5 LIN7B SNAR-A7 SNAR-C4 IL4I1 CPT1C LOC105372430 TSKS CGB5 DBP SNORD35B C19orf73 SNAR-G2 MIR6800 PTH2 SNRNP70 PPFIA3 CGB2 PRMT1 LOC101928295 IZUMO1 SNAR-A13 FLJ26850 LOC100287477 GYS1 PRR12 SNAR-A12 MIR5088 SNAR-D SNORD34 C19orf68 ADM5 NOSIP SYNGR4 NTF4 TMEM143 SEC1P SNAR-A14 CARD8-AS1 SNAR-C2 CCDC114 MIR150 CGB1 SNAR-A8 CARD8 TRPM4 CGB7 MIR4750 MAMSTR SNAR-A3 IRF3 ZNF114 MIR4324 DHDH SIGLEC11 LMTK3 RUVBL2 SLC6A16 AKT1S1 PRRG2 NUCB1 HRC CGB8 RCN3 RPS11 TULP2 PPP1R15A SNAR-A6 PNKP RRAS DKKL1 TBC1D17 PIH1D1 KCNA7 HSD17B14 SNAR-A4 SNAR-A2 FTL BCL2L12 GRWD1 FAM83E LIG1 CCDC155 CYTH2 PTOV1 SNAR-A10 SNAR-C1 SULT2B1 TEAD2 SNAR-A1 SCAF1 RASIP1 GFY FLT3LG FUT2 NUP62 LOC105447645 LHB CA11 SPACA4 PTOV1-AS2 ATF5 BCAT2 RPL18 SNAR-G1 SNORD35A MIR6798 CD37 GRIN2D VRK3 PLA2G4C-AS1 SIGLEC16 EMP3 SNAR-C5 MIR4751 SPHK2 SNAR-A9 KCNJ14 MED25 SNAR-C3 PLEKHA4 LOC101059948 SNORD33 NUCB1-AS1 KDELR1 SNORD32A RPL13A SNAR-A11 FUT1 ALDH16A1 SNAR-B1 SNAR-A5 SLC17A7 FGF21 NTN5 PLA2G4C ELSPBP1 BSPH1 MIR6799 AP2A1 MIR4749
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	HRC TRPM4 C19orf73 SNRNP70 PPFIA3 LIN7B
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	HRC TRPM4 C19orf73 PPFIA3 LIN7B
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	CGB3 LOC101059948 MIR6798 NTF4 CGB2 NUCB1-AS1 DHDH BAX KCNA7 RUVBL2 LIN7B GYS1 CGB1 NUCB1 LHB FTL CGB7 CGB8 CGB5 C19orf73 SNAR-G2 SNAR-G1 SNRNP70 PPFIA3
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	HRC TRPM4 C19orf73 PPFIA3 LIN7B
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	KCNA7 C19orf73 SNRNP70 PPFIA3 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