Hs04011455_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49137833 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 15

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
	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 LIN7B C19orf73 SNRNP70
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	RUVBL2 LHB CGB2 LIN7B SNAR-G2 CGB7 CGB3 KCNA7 SNAR-G1 MIR6798 TRPM4 PPFIA3 HRC LOC101059948 NTF4 C19orf73 SNRNP70 CGB1 CGB8 CGB5
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	LOC100287477 SNAR-A4 CD37 HSD17B14 MIR6799 LMTK3 MIR5088 ADM5 SLC6A16 GYS1 LOC101059948 SNAR-A6 SNAR-A9 IL4I1 FGF21 PRRG2 MAMSTR SNAR-A2 SNAR-A3 KCNJ14 MIR4324 LIN7B IRF3 PTH2 CGB7 SLC17A7 PNKP MIR4749 CCDC155 MIR4751 C19orf73 PPP1R15A AP2A1 SNAR-A5 DHDH BAX SNORD34 SNAR-C1 ZNF114 CGB2 RASIP1 BCAT2 TSKS CCDC114 SNAR-G1 NUP62 ATF5 BSPH1 SNORD32A DKKL1 ZNF473 PTOV1-AS2 SNAR-B1 SIGLEC16 FAM83E RPL13A SNAR-G2 RPS11 CGB3 GRWD1 FCGRT SNAR-C3 SNAR-A8 SNAR-A1 PIH1D1 SULT2B1 CA11 LOC105447645 TBC1D17 ELSPBP1 SCAF1 SNAR-D PLA2G4C-AS1 TULP2 RRAS EMP3 PRR12 IZUMO1 SNORD35A KCNA7 SNAR-A11 MED25 TRPM4 VRK3 NTN5 PTOV1 BCL2L12 CGB8 PLA2G4C CGB5 NUCB1 SNAR-A14 RUVBL2 FTL SNAR-C4 MIR6800 SNORD33 SIGLEC11 FLT3LG RCN3 MIR6798 GFY SPHK2 SNORD35B RPL18 SNAR-B2 PPFIA3 CARD8 NTF4 TMEM143 GRIN2D SNAR-C2 KDELR1 SEC1P SYNGR4 DBP LHB NUCB1-AS1 TEAD2 LIG1 C19orf68 PRMT1 LOC105372430 HRC SNAR-C5 SNAR-A12 ALDH16A1 CGB1 FUT2 FUT1 FUZ LOC101928295 MIR4750 SNAR-A7 CYTH2 SNAR-A10 SNAR-A13 PTOV1-AS1 FLJ26850 CARD8-AS1 CABP5 SPACA4 MIR150 AKT1S1 NOSIP PLEKHA4 CPT1C SNRNP70
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	TRPM4 PPFIA3 HRC LIN7B C19orf73 SNRNP70
nsv524235	Chr.19:49136745 - 49158770 on Build GRCh38	Gain	TRPM4 PPFIA3 HRC
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	TRPM4 PPFIA3 HRC LIN7B C19orf73
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	TRPM4 PPFIA3 HRC LIN7B C19orf73
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	NUCB1 RUVBL2 LHB FTL CGB2 LIN7B NUCB1-AS1 SNAR-G2 CGB7 CGB3 KCNA7 SNAR-G1 MIR6798 GYS1 PPFIA3 LOC101059948 NTF4 C19orf73 SNRNP70 CGB1 DHDH BAX CGB8 CGB5
dgv667e214	Chr.19:49130606 - 49174364 on Build GRCh38	Gain	TRPM4 PPFIA3 HRC
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	PPFIA3 LIN7B C19orf73 SNRNP70 KCNA7

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