Hs04022682_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49137205 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
	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	LIN7B SNRNP70 C19orf73 PPFIA3
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	CGB7 SNAR-G1 LHB SNAR-G2 CGB1 LOC101059948 CGB3 SNRNP70 C19orf73 MIR6798 KCNA7 RUVBL2 CGB2 TRPM4 CGB5 HRC LIN7B CGB8 NTF4 PPFIA3
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	GFY TBC1D17 NUCB1 LIG1 RRAS NTN5 AP2A1 RPL18 SNAR-A8 SNAR-A4 PLEKHA4 RPL13A SNAR-A1 SNAR-B2 PTOV1-AS1 SIGLEC16 MIR4750 ZNF473 RCN3 HSD17B14 SNORD35A TULP2 PNKP C19orf68 PRRG2 TEAD2 LOC101059948 ALDH16A1 SNORD35B TSKS C19orf73 CD37 MIR5088 CCDC155 LOC101928295 SNAR-A10 CGB8 SPACA4 PRMT1 RPS11 SNAR-G1 SNAR-G2 SNAR-C3 ADM5 IRF3 CA11 SNRNP70 TMEM143 SNAR-A14 SNAR-A12 SNORD32A FGF21 CGB2 SNAR-A9 PPP1R15A GYS1 GRIN2D BAX SPHK2 MIR6800 DHDH MIR150 DKKL1 FAM83E FUZ PTOV1 SNAR-C4 LOC100287477 ZNF114 DBP FLJ26850 SYNGR4 BCAT2 MIR4324 CCDC114 PTOV1-AS2 ELSPBP1 SCAF1 TRPM4 CGB5 BCL2L12 FUT2 MIR4751 SNAR-D SNAR-A11 SLC17A7 SNAR-B1 SULT2B1 LMTK3 NUP62 CGB3 SNAR-C5 GRWD1 KCNA7 ATF5 SNAR-A7 SNAR-A3 MIR6799 RASIP1 CARD8-AS1 CARD8 LOC105447645 HRC LIN7B MIR4749 IZUMO1 PLA2G4C-AS1 KDELR1 PLA2G4C SIGLEC11 MAMSTR SNORD34 CGB1 BSPH1 SNAR-A13 IL4I1 KCNJ14 SNAR-A2 CABP5 SNAR-C2 CYTH2 FTL RUVBL2 CPT1C SLC6A16 PPFIA3 CGB7 FCGRT FLT3LG MED25 NOSIP LHB EMP3 PRR12 PTH2 SNAR-A5 SEC1P AKT1S1 SNORD33 SNAR-C1 LOC105372430 MIR6798 VRK3 FUT1 NUCB1-AS1 PIH1D1 SNAR-A6 NTF4
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	TRPM4 HRC LIN7B SNRNP70 C19orf73 PPFIA3
nsv524235	Chr.19:49136745 - 49158770 on Build GRCh38	Gain	TRPM4 HRC PPFIA3
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	TRPM4 HRC LIN7B C19orf73 PPFIA3
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	TRPM4 HRC LIN7B C19orf73 PPFIA3
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	CGB7 NUCB1 SNAR-G1 LHB SNAR-G2 CGB1 LOC101059948 CGB3 SNRNP70 BAX C19orf73 MIR6798 DHDH KCNA7 FTL RUVBL2 CGB2 CGB5 LIN7B CGB8 NUCB1-AS1 GYS1 NTF4 PPFIA3
dgv667e214	Chr.19:49130606 - 49174364 on Build GRCh38	Gain	TRPM4 HRC PPFIA3
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	LIN7B SNRNP70 C19orf73 KCNA7 PPFIA3

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