Hs00835021_cn

• Gene Symbol: PPFIA3
• Assay Reference Genome Location: Chr.19:49135869 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 Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPFIA3	NM_003660.3	14	1960	NP_003651.1
	NR_103842.1	14	1960
	XM_017027407.1	14	1960	XP_016882896.1
	AB014554.2	14	1943
	AK025972.1	11	1160
	AK289757.1	14	1665
	AK293798.1	12	1411
	AK308483.1	12	1451
	BC101518.1	14	1686	AAI01519.1
	BC101520.1	14	1686	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	PPFIA3 HRC
dgv3620n100	Chr.19:49087495 - 49147785 on Build GRCh38	Gain	C19orf73 PPFIA3 SNRNP70 LIN7B
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	CGB2 KCNA7 SNAR-G1 LHB HRC CGB1 MIR6798 C19orf73 PPFIA3 CGB7 RUVBL2 SNRNP70 CGB8 TRPM4 NTF4 SNAR-G2 CGB3 LOC101059948 CGB5 LIN7B
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	BCAT2 CGB2 TULP2 SEC1P SNAR-C1 ZNF114 PTH2 CGB7 SNORD35B TBC1D17 FLJ26850 CCDC114 SCAF1 BSPH1 FUT2 CGB3 SLC6A16 LIG1 RCN3 CD37 IZUMO1 ADM5 HRC CGB1 CCDC155 SPHK2 SNAR-A4 TMEM143 ZNF473 CPT1C LOC105372430 MED25 NUCB1-AS1 GYS1 SNAR-D SNAR-A6 C19orf68 FAM83E SNAR-A12 MIR6800 AP2A1 SPACA4 MIR4749 KCNA7 ELSPBP1 PNKP PRR12 SULT2B1 SNAR-A2 RRAS SNAR-A7 PLA2G4C LOC105447645 FLT3LG SNAR-B2 SNAR-G1 LMTK3 LHB DKKL1 NTN5 RASIP1 C19orf73 HSD17B14 PLA2G4C-AS1 FCGRT SNAR-C2 SNAR-A10 CGB8 BAX MIR4324 SNAR-A13 PLEKHA4 MAMSTR DHDH CARD8-AS1 LIN7B PTOV1-AS1 MIR4750 PIH1D1 SNAR-C3 SNAR-A11 RPL18 CARD8 RPS11 LOC100287477 SNAR-B1 GRWD1 FGF21 MIR5088 SNRNP70 NUP62 LOC101928295 SNORD34 ATF5 SNAR-G2 CGB5 VRK3 SIGLEC11 PTOV1-AS2 SNAR-A5 SYNGR4 RPL13A SNAR-A9 KCNJ14 MIR6798 ALDH16A1 FTL IL4I1 PPFIA3 TSKS PRRG2 TRPM4 NUCB1 CA11 PTOV1 SLC17A7 DBP TEAD2 MIR150 GRIN2D NOSIP PPP1R15A FUT1 PRMT1 SNORD32A CABP5 IRF3 AKT1S1 SNAR-A3 BCL2L12 SNAR-A14 MIR4751 NTF4 MIR6799 SNAR-C5 EMP3 LOC101059948 FUZ GFY SNAR-A1 CYTH2 SNORD35A KDELR1 SNAR-A8 RUVBL2 SNAR-C4 SNORD33 SIGLEC16
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	C19orf73 PPFIA3 SNRNP70 TRPM4 HRC LIN7B
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	C19orf73 PPFIA3 TRPM4 HRC LIN7B
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	C19orf73 PPFIA3 TRPM4 HRC LIN7B
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	CGB2 KCNA7 SNAR-G1 LHB CGB1 MIR6798 FTL C19orf73 PPFIA3 CGB7 RUVBL2 SNRNP70 NUCB1-AS1 CGB8 GYS1 BAX NUCB1 NTF4 DHDH SNAR-G2 CGB3 LOC101059948 CGB5 LIN7B
dgv667e214	Chr.19:49130606 - 49174364 on Build GRCh38	Gain	PPFIA3 TRPM4 HRC
dgv3619n100	Chr.19:49067856 - 49147785 on Build GRCh38	Gain	C19orf73 PPFIA3 SNRNP70 KCNA7 LIN7B

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

neurotransmitter secretion
glutamate secretion
regulation of short-term neuronal synaptic plasticity

Function(s)

protein binding