Hs00463637_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49134647 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 11 - Intron 12

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