Hs04015971_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49123895 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: Within Intron 1

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
	BC101518.1			AAI01519.1
	BC101520.1			AAI01521.1
	DA236900.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

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

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

neurotransmitter secretion
glutamate secretion
regulation of short-term neuronal synaptic plasticity

Function(s)

protein binding