Hs01199100_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49133022 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 7 - Exon 8

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

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