Hs02342602_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49133812 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 9 - Exon 10

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

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