Hs02342602_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49133812 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 9 - Exon 10

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