Hs01214295_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49130027 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 5 - Exon 6

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

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