Hs04027439_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49131520 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: Within Intron 7

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

More Information

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

Gene Ontology Categories:

Process(es)

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

Function(s)

protein binding