Hs00337243_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49133315 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 Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPFIA3	NM_003660.3	9	1454	NP_003651.1
	NR_103842.1	9	1454
	XM_017027407.1	9	1454	XP_016882896.1
	AB014554.2	9	1437
	AK025972.1	6	654
	AK289757.1	9	1159
	AK293798.1	7	905
	AK308483.1	7	945
	BC101518.1	9	1180	AAI01519.1
	BC101520.1	9	1180	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	PPFIA3 SNRNP70 LIN7B C19orf73
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	SNAR-G1 PPFIA3 CGB5 CGB7 NTF4 KCNA7 LIN7B LHB HRC RUVBL2 TRPM4 CGB3 SNRNP70 CGB2 CGB1 C19orf73 SNAR-G2 CGB8 MIR6798 LOC101059948
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	SYNGR4 AP2A1 BCL2L12 PTOV1 KDELR1 NTF4 PIH1D1 SNAR-A12 LHB HRC CD37 BCAT2 SNAR-A4 SNAR-A7 BSPH1 SNAR-A6 HSD17B14 SIGLEC16 C19orf73 SNORD33 LOC101059948 SLC6A16 SNAR-A5 SNAR-C2 SNAR-A8 FUT1 ELSPBP1 SNAR-C5 CPT1C FUZ PTH2 RASIP1 KCNJ14 MIR4751 LMTK3 NUCB1-AS1 SNAR-C1 FLJ26850 SNAR-B2 IL4I1 GFY CYTH2 SEC1P MIR5088 NOSIP ZNF473 SNAR-A3 NTN5 PRR12 ATF5 TBC1D17 TULP2 SNAR-A14 CGB7 SNORD35A NUP62 LOC105447645 SNORD35B CARD8-AS1 RRAS CGB3 RPS11 IRF3 EMP3 PTOV1-AS1 MIR6798 SPHK2 CARD8 LIG1 ADM5 SNORD34 SNAR-C3 MED25 SIGLEC11 VRK3 SPACA4 MIR6799 MIR150 GYS1 CCDC155 CGB1 DBP SNAR-G2 SNAR-A10 CGB8 FCGRT FUT2 SNAR-D PLA2G4C-AS1 MIR4749 LOC105372430 LIN7B PNKP FAM83E SNAR-B1 SNAR-A9 GRIN2D RUVBL2 SNAR-A1 TRPM4 FLT3LG PLA2G4C SNAR-A11 FGF21 CGB2 DKKL1 NUCB1 ALDH16A1 SLC17A7 RPL13A SNAR-G1 MIR4750 KCNA7 CA11 PRRG2 BAX SNORD32A SNAR-A2 CABP5 SULT2B1 AKT1S1 RPL18 SNAR-C4 SCAF1 TEAD2 SNRNP70 C19orf68 MAMSTR SNAR-A13 PPP1R15A GRWD1 LOC100287477 MIR4324 PPFIA3 CGB5 TMEM143 IZUMO1 DHDH MIR6800 PRMT1 CCDC114 PTOV1-AS2 FTL TSKS PLEKHA4 RCN3 LOC101928295 ZNF114
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	PPFIA3 SNRNP70 LIN7B C19orf73 HRC TRPM4
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	PPFIA3 LIN7B C19orf73 HRC TRPM4
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	PPFIA3 LIN7B C19orf73 HRC TRPM4
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	SNAR-G1 PPFIA3 CGB5 DHDH CGB7 NTF4 KCNA7 LIN7B BAX LHB RUVBL2 CGB3 FTL SNRNP70 GYS1 CGB2 CGB1 C19orf73 NUCB1-AS1 SNAR-G2 NUCB1 CGB8 MIR6798 LOC101059948
dgv667e214	Chr.19:49130606 - 49174364 on Build GRCh38	Gain	PPFIA3 HRC TRPM4
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	PPFIA3 SNRNP70 KCNA7 LIN7B C19orf73

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

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

Function(s)

protein binding