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