Hs04023611_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49126852 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
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	SNRNP70 SNAR-G1 CGB8 CGB1 HRC TRPM4 CGB5 LHB LIN7B CGB7 CGB3 C19orf73 LOC101059948 MIR6798 NTF4 CGB2 RUVBL2 KCNA7 SNAR-G2 PPFIA3
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	C19orf73 SNRNP70 LIN7B PPFIA3
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	SNRNP70 CYTH2 MED25 NTN5 KDELR1 SNAR-C1 LHB SNAR-C2 NOSIP SIGLEC11 MIR4750 CARD8 PTOV1 FUT2 CGB2 TULP2 RUVBL2 SULT2B1 MAMSTR SNAR-A11 PIH1D1 SLC17A7 BSPH1 SNAR-C4 LIN7B NUCB1 PTOV1-AS2 KCNA7 CA11 C19orf68 BAX MIR150 AKT1S1 CGB8 SNAR-A6 HSD17B14 ATF5 PTOV1-AS1 ZNF114 CGB3 PPP1R15A SNORD35A MIR6798 MIR4749 TBC1D17 SIGLEC16 SNAR-A5 PLEKHA4 SNAR-A9 SLC6A16 SNAR-G2 TMEM143 MIR6800 RPL18 IZUMO1 SNORD33 HRC RPS11 IL4I1 RASIP1 SNAR-A2 FLT3LG C19orf73 LOC100287477 GFY IRF3 RPL13A SNORD32A LIG1 MIR4324 FUZ SEC1P SNAR-A12 FCGRT RCN3 FLJ26850 FUT1 SNAR-G1 CGB1 PLA2G4C-AS1 TEAD2 PRRG2 PRMT1 ELSPBP1 SNAR-A3 NUCB1-AS1 EMP3 VRK3 FGF21 NUP62 SNAR-C3 DBP SNORD35B CGB5 LMTK3 SPHK2 LOC101928295 SNAR-A1 ADM5 MIR5088 SYNGR4 SPACA4 SNAR-A4 SNAR-A7 SNAR-A10 CCDC155 PNKP KCNJ14 SNAR-A14 SNAR-B2 GRWD1 SNAR-C5 PTH2 ALDH16A1 SNORD34 CD37 ZNF473 MIR4751 TRPM4 CGB7 SNAR-D CCDC114 CARD8-AS1 SNAR-B1 LOC101059948 PLA2G4C TSKS AP2A1 SNAR-A13 BCAT2 CABP5 FTL LOC105372430 GRIN2D DHDH PRR12 BCL2L12 FAM83E MIR6799 CPT1C RRAS NTF4 DKKL1 SNAR-A8 SCAF1 LOC105447645 GYS1 PPFIA3
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	C19orf73 SNRNP70 HRC TRPM4 LIN7B PPFIA3
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	C19orf73 HRC TRPM4 LIN7B PPFIA3
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	BAX FTL SNRNP70 DHDH SNAR-G1 CGB8 CGB1 CGB5 LHB LIN7B CGB7 CGB3 NUCB1 C19orf73 LOC101059948 MIR6798 NTF4 CGB2 RUVBL2 KCNA7 NUCB1-AS1 SNAR-G2 GYS1 PPFIA3
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	C19orf73 HRC TRPM4 LIN7B PPFIA3
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	C19orf73 SNRNP70 KCNA7 LIN7B PPFIA3

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