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

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