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

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