Hs00760326_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49135957 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 Exon 14 - Intron 14

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

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

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

Function(s)

protein binding