Hs04027439_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49131520 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 7

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