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
nsv470149	Chr.19:49129515 - 49155110 on Build GRCh38	Loss	HRC PPFIA3
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	SNRNP70 LIN7B C19orf73 PPFIA3
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	SNRNP70 HRC CGB1 CGB2 LIN7B RUVBL2 MIR6798 PPFIA3 KCNA7 CGB3 LHB C19orf73 LOC101059948 SNAR-G2 CGB5 CGB8 CGB7 SNAR-G1 TRPM4 NTF4
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	CYTH2 CGB1 CABP5 BCL2L12 PPP1R15A NUP62 KCNJ14 IL4I1 SNAR-B2 MIR150 CGB3 SNAR-A9 SIGLEC16 SNAR-A2 SNAR-A12 RASIP1 SNAR-G1 CCDC114 RPS11 LOC105372430 CARD8-AS1 SNRNP70 LIG1 SNAR-C4 FAM83E FUT2 SNORD32A KDELR1 LMTK3 SNAR-A11 MAMSTR PTOV1-AS1 SNAR-A13 NUCB1 LOC100287477 SNORD33 RPL13A FUT1 C19orf73 SULT2B1 NUCB1-AS1 TSKS FTL SNAR-C1 HRC SNAR-C3 GRIN2D MIR6800 AKT1S1 SCAF1 TULP2 MIR5088 PIH1D1 SPHK2 VRK3 BSPH1 RCN3 HSD17B14 PLA2G4C-AS1 SNAR-G2 CA11 CGB8 SNORD34 ATF5 ADM5 SNAR-A6 NOSIP CD37 SEC1P SNORD35B MIR6798 CPT1C PPFIA3 MED25 GYS1 AP2A1 CGB7 ZNF473 PRRG2 TEAD2 SNAR-A10 DHDH DBP LIN7B SLC6A16 SNAR-B1 RUVBL2 FGF21 MIR4749 LHB SNAR-A14 PLA2G4C FLT3LG LOC101059948 LOC105447645 CGB5 PTOV1 ZNF114 TRPM4 NTF4 CGB2 SNAR-A1 SNAR-C2 KCNA7 MIR4750 ALDH16A1 PRR12 IZUMO1 DKKL1 BCAT2 LOC101928295 SNAR-C5 SPACA4 TBC1D17 BAX C19orf68 SNAR-D SNAR-A8 SLC17A7 GRWD1 FLJ26850 GFY MIR4324 PTH2 RRAS RPL18 TMEM143 SIGLEC11 PNKP SNAR-A7 ELSPBP1 SYNGR4 CARD8 IRF3 SNAR-A4 SNAR-A5 MIR6799 FUZ MIR4751 PTOV1-AS2 SNAR-A3 FCGRT CCDC155 PRMT1 SNORD35A NTN5 EMP3 PLEKHA4
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	SNRNP70 HRC LIN7B C19orf73 PPFIA3 TRPM4
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	HRC LIN7B C19orf73 PPFIA3 TRPM4
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	HRC LIN7B C19orf73 PPFIA3 TRPM4
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	SNRNP70 CGB1 CGB2 LIN7B RUVBL2 MIR6798 PPFIA3 NUCB1 KCNA7 CGB3 LHB C19orf73 LOC101059948 GYS1 NUCB1-AS1 SNAR-G2 CGB5 CGB8 CGB7 FTL BAX SNAR-G1 DHDH NTF4
dgv667e214	Chr.19:49130606 - 49174364 on Build GRCh38	Gain	HRC PPFIA3 TRPM4
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	SNRNP70 LIN7B C19orf73 PPFIA3 KCNA7

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