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
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	NTF4 LIN7B CGB5 CGB8 CGB3 SNAR-G1 KCNA7 SNAR-G2 LHB TRPM4 SNRNP70 PPFIA3 RUVBL2 CGB1 C19orf73 CGB2 MIR6798 HRC CGB7 LOC101059948
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	LIN7B C19orf73 SNRNP70 PPFIA3
nsv470149	Chr.19:49129515 - 49155110 on Build GRCh38	Loss	HRC PPFIA3
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	TBC1D17 RPL18 NUCB1 MIR6799 MIR4324 SNORD34 CGB1 HSD17B14 CGB2 SNAR-A6 PLA2G4C SNAR-A3 PRR12 SCAF1 MIR6798 DBP SNAR-A9 SIGLEC16 SULT2B1 PTOV1-AS2 CGB8 FLJ26850 SNAR-A4 GYS1 RPS11 CA11 KDELR1 CPT1C TULP2 LOC101928295 HRC ADM5 PRMT1 IRF3 SNAR-A10 RRAS RCN3 CGB5 SLC6A16 SNAR-C1 SNAR-G2 MED25 LMTK3 FUT1 SNORD32A FUZ MIR4750 ZNF114 PTOV1-AS1 FUT2 CARD8-AS1 PNKP LOC101059948 GFY PRRG2 FCGRT LIG1 BAX BSPH1 CCDC114 SLC17A7 ELSPBP1 ZNF473 SNAR-C2 CGB7 MIR150 LOC105372430 FLT3LG IZUMO1 CYTH2 SNORD35A SNORD33 TSKS TEAD2 SNAR-B1 SEC1P NOSIP PTOV1 MIR6800 SNAR-C3 SNAR-C5 VRK3 LOC105447645 SPHK2 SNAR-A2 IL4I1 PLA2G4C-AS1 RASIP1 CGB3 SNAR-A13 SNAR-A11 KCNA7 PPFIA3 MIR4749 BCAT2 NUCB1-AS1 FGF21 MIR4751 SNAR-A8 FAM83E KCNJ14 NTF4 LIN7B NUP62 CD37 SNAR-G1 SNAR-A12 LOC100287477 DKKL1 FTL LHB BCL2L12 CARD8 EMP3 RPL13A AP2A1 SYNGR4 TMEM143 SNAR-B2 SNAR-C4 GRIN2D PPP1R15A CABP5 SNAR-A14 MAMSTR AKT1S1 C19orf68 SNAR-A1 NTN5 DHDH SNAR-D TRPM4 SNORD35B SNRNP70 ATF5 SIGLEC11 RUVBL2 PLEKHA4 C19orf73 SNAR-A5 GRWD1 ALDH16A1 SPACA4 PIH1D1 PTH2 SNAR-A7 MIR5088 CCDC155
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	LIN7B C19orf73 HRC TRPM4 SNRNP70 PPFIA3
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	LIN7B C19orf73 HRC TRPM4 PPFIA3
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	NTF4 LIN7B CGB5 CGB8 CGB3 SNAR-G1 KCNA7 GYS1 NUCB1 DHDH SNAR-G2 FTL LHB SNRNP70 PPFIA3 RUVBL2 BAX CGB1 C19orf73 CGB2 MIR6798 NUCB1-AS1 CGB7 LOC101059948
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	LIN7B C19orf73 HRC TRPM4 PPFIA3
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	LIN7B C19orf73 KCNA7 SNRNP70 PPFIA3
dgv667e214	Chr.19:49130606 - 49174364 on Build GRCh38	Gain	HRC TRPM4 PPFIA3

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