Hs01789367_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49134859 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 12 - Exon 13

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