Hs02103588_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49130437 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 6 - Exon 7

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

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