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

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