Hs02912910_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49128125 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 Exon 2 - Intron 2

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
	AK289757.1
	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
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	C19orf73 SNRNP70 LIN7B PPFIA3
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	HRC KCNA7 LOC101059948 CGB7 CGB2 SNRNP70 LIN7B LHB NTF4 TRPM4 CGB3 SNAR-G1 PPFIA3 C19orf73 SNAR-G2 CGB8 RUVBL2 MIR6798 CGB5 CGB1
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	TULP2 SPACA4 SNRNP70 RPL18 PTH2 KDELR1 SLC6A16 SYNGR4 SNAR-A3 SULT2B1 CYTH2 FAM83E GRWD1 FUT2 SNAR-A10 CGB1 NUCB1-AS1 ELSPBP1 IRF3 ZNF473 SIGLEC16 NTF4 TRPM4 SNAR-G1 FGF21 NUCB1 SNAR-C1 SNAR-A11 LMTK3 CGB8 CA11 IZUMO1 MED25 DKKL1 SNAR-C3 MAMSTR BCAT2 RRAS PTOV1-AS2 BSPH1 SNAR-A1 SNAR-C5 SNAR-G2 ADM5 KCNJ14 SNAR-A13 MIR6799 HSD17B14 RPL13A LIG1 MIR4750 PPP1R15A NOSIP GFY TBC1D17 LIN7B LHB SNAR-C2 SNORD35A SNORD32A SNAR-A4 PRR12 SNAR-A7 SIGLEC11 SNAR-A5 SNAR-A12 MIR4751 MIR6798 SNAR-A6 SNAR-C4 SNAR-D AKT1S1 MIR150 SLC17A7 PLEKHA4 ATF5 HRC CGB7 PLA2G4C-AS1 NTN5 PTOV1-AS1 FUT1 PIH1D1 PNKP C19orf73 IL4I1 C19orf68 RUVBL2 LOC101928295 CARD8 PRMT1 SNORD34 KCNA7 FLT3LG PLA2G4C SNAR-A14 SNAR-A9 CGB3 RPS11 ZNF114 SNORD35B SNORD33 AP2A1 CPT1C CGB5 FUZ SPHK2 CGB2 MIR5088 SNAR-B2 MIR4749 LOC105372430 MIR6800 CARD8-AS1 BCL2L12 DHDH PRRG2 GYS1 CCDC114 TMEM143 GRIN2D LOC105447645 RASIP1 NUP62 CD37 CABP5 FTL VRK3 LOC100287477 TSKS LOC101059948 SNAR-B1 ALDH16A1 BAX SCAF1 PPFIA3 EMP3 MIR4324 SNAR-A8 RCN3 FLJ26850 PTOV1 TEAD2 CCDC155 SEC1P FCGRT SNAR-A2 DBP
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	C19orf73 HRC SNRNP70 LIN7B TRPM4 PPFIA3
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	C19orf73 HRC LIN7B TRPM4 PPFIA3
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	C19orf73 HRC LIN7B TRPM4 PPFIA3
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	KCNA7 LOC101059948 CGB7 CGB2 SNRNP70 LIN7B LHB NTF4 CGB3 BAX SNAR-G1 DHDH PPFIA3 NUCB1 GYS1 C19orf73 SNAR-G2 CGB8 RUVBL2 MIR6798 FTL CGB5 CGB1 NUCB1-AS1
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	C19orf73 KCNA7 SNRNP70 LIN7B PPFIA3

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