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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:FIP1L1-PDGFRA

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: FIP1L1-PDGFRA
	FusionPDB ID: 30424
	FusionGDB2.0 ID: 30424
		Hgene	Tgene
	Gene symbol	FIP1L1	PDGFRA
	Gene ID	81608	5156
	Gene name	factor interacting with PAPOLA and CPSF1	platelet derived growth factor receptor alpha
	Synonyms	FIP1\|Rhe\|hFip1	CD140A\|PDGFR-2\|PDGFR2
	Cytomap	4q12	4q12
	Type of gene	protein-coding	protein-coding
	Description	pre-mRNA 3'-end-processing factor FIP1FIP1 like 1FIP1-like 1 proteinFIP1L1 cleavage and polyadenylation specific factor subunitfactor interacting with PAPrearranged in hypereosinophilia	platelet-derived growth factor receptor alphaCD140 antigen-like family member ACD140a antigenPDGF-R-alphaalpha-type platelet-derived growth factor receptorplatelet-derived growth factor receptor 2platelet-derived growth factor receptor, alpha polype
	Modification date	20200313	20200329
	UniProtAcc	Q6UN15	P16234
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000306932, ENST00000337488, ENST00000358575, ENST00000507166, ENST00000507922, ENST00000510668,	ENST00000508170, ENST00000257290,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	9 X 10 X 8=720	18 X 27 X 8=3888
	# samples	13	17
	** MAII score	log2(13/720*10)=-2.46948528330122 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(17/3888*10)=-4.51542156746808 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: FIP1L1 [Title/Abstract] AND PDGFRA [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	FIP1L1(54310214)-PDGFRA(55156649), # samples:1 FIP1L1(54319107)-PDGFRA(55156689), # samples:1 FIP1L1(54292132)-PDGFRA(55141089), # samples:1 FIP1L1(54292132)-PDGFRA(55141092), # samples:1 PDGFRA(55156721)-FIP1L1(54310215), # samples:3
Anticipated loss of major functional domain due to fusion event.	FIP1L1-PDGFRA seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. FIP1L1-PDGFRA seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. FIP1L1-PDGFRA seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. FIP1L1-PDGFRA seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. FIP1L1-PDGFRA seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. FIP1L1-PDGFRA seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. FIP1L1-PDGFRA seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. FIP1L1-PDGFRA seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. FIP1L1-PDGFRA seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	PDGFRA	GO:0008284	positive regulation of cell proliferation	10806482
Tgene	PDGFRA	GO:0010544	negative regulation of platelet activation	8188664
Tgene	PDGFRA	GO:0018108	peptidyl-tyrosine phosphorylation	1646396\|2536956\|8188664
Tgene	PDGFRA	GO:0030335	positive regulation of cell migration	17470632
Tgene	PDGFRA	GO:0034614	cellular response to reactive oxygen species	24190966
Tgene	PDGFRA	GO:0038091	positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	17470632
Tgene	PDGFRA	GO:0046777	protein autophosphorylation	1646396\|2536956\|8188664
Tgene	PDGFRA	GO:0048008	platelet-derived growth factor receptor signaling pathway	2536956\|10806482
Tgene	PDGFRA	GO:0048146	positive regulation of fibroblast proliferation	10806482

Fusion gene breakpoints across FIP1L1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across PDGFRA (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	idiopathic hypereosinophilic syndrome	AY229892	FIP1L1	chr4	54292132		PDGFRA	chr4	55141089
ChimerDB4	LGG	TCGA-E1-A7YI-01A	FIP1L1	chr4	54310214	-	PDGFRA	chr4	55156649	+
ChimerDB4	LGG	TCGA-E1-A7YI-01A	FIP1L1	chr4	54319107	-	PDGFRA	chr4	55156689	+
ChimerKB3	.	.	FIP1L1	chr4	54306775	+	PDGFRA	chr4	55141007	+
ChiTaRS5.0	N/A	AY229892	FIP1L1	chr4	54292132	+	PDGFRA	chr4	55141092	+

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000507166	FIP1L1	chr4	54292132		ENST00000257290	PDGFRA	chr4	55141089		5527	1017	1019	2551	510
ENST00000358575	FIP1L1	chr4	54292132		ENST00000257290	PDGFRA	chr4	55141089		5676	1166	1168	2700	510
ENST00000337488	FIP1L1	chr4	54292132		ENST00000257290	PDGFRA	chr4	55141089		5721	1211	1213	2745	510
ENST00000507922	FIP1L1	chr4	54292132		ENST00000257290	PDGFRA	chr4	55141089		5650	1140	1142	2674	510
ENST00000306932	FIP1L1	chr4	54292132		ENST00000257290	PDGFRA	chr4	55141089		5448	938	940	2472	510
ENST00000507166	FIP1L1	chr4	54292132	+	ENST00000257290	PDGFRA	chr4	55141092	+	5524	1017	1073	2548	491
ENST00000358575	FIP1L1	chr4	54292132	+	ENST00000257290	PDGFRA	chr4	55141092	+	5673	1166	1222	2697	491
ENST00000337488	FIP1L1	chr4	54292132	+	ENST00000257290	PDGFRA	chr4	55141092	+	5718	1211	1267	2742	491
ENST00000507922	FIP1L1	chr4	54292132	+	ENST00000257290	PDGFRA	chr4	55141092	+	5647	1140	1196	2671	491
ENST00000306932	FIP1L1	chr4	54292132	+	ENST00000257290	PDGFRA	chr4	55141092	+	5445	938	994	2469	491

DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000507166	ENST00000257290	FIP1L1	chr4	54292132		PDGFRA	chr4	55141089		0.000170798	0.9998292
ENST00000358575	ENST00000257290	FIP1L1	chr4	54292132		PDGFRA	chr4	55141089		0.000174671	0.9998253
ENST00000337488	ENST00000257290	FIP1L1	chr4	54292132		PDGFRA	chr4	55141089		0.000171373	0.9998286
ENST00000507922	ENST00000257290	FIP1L1	chr4	54292132		PDGFRA	chr4	55141089		0.00017199	0.999828
ENST00000306932	ENST00000257290	FIP1L1	chr4	54292132		PDGFRA	chr4	55141089		0.000164294	0.9998357
ENST00000507166	ENST00000257290	FIP1L1	chr4	54292132	+	PDGFRA	chr4	55141092	+	0.000168597	0.9998313
ENST00000358575	ENST00000257290	FIP1L1	chr4	54292132	+	PDGFRA	chr4	55141092	+	0.00017267	0.9998273
ENST00000337488	ENST00000257290	FIP1L1	chr4	54292132	+	PDGFRA	chr4	55141092	+	0.000169334	0.9998306
ENST00000507922	ENST00000257290	FIP1L1	chr4	54292132	+	PDGFRA	chr4	55141092	+	0.000169846	0.9998301
ENST00000306932	ENST00000257290	FIP1L1	chr4	54292132	+	PDGFRA	chr4	55141092	+	0.000162303	0.99983764

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>30424_30424_1_FIP1L1-PDGFRA_FIP1L1_chr4_54292132_ENST00000306932_PDGFRA_chr4_55141089_ENST00000257290_length(amino acids)=510AA_BP=1
MPYDSRWEFPRDGLVLGRVLGSGAFGKVVEGTAYGLSRSQPVMKVAVKMLKPTARSSEKQALMSELKIMTHLGPHLNIVNLLGACTKSGP
IYIITEYCFYGDLVNYLHKNRDSFLSHHPEKPKKELDIFGLNPADESTRSYVILSFENNGDYMDMKQADTTQYVPMLERKEVSKYSDIQR
SLYDRPASYKKKSMLDSEVKNLLSDDNSEGLTLLDLLSFTYQVARGMEFLASKNCVHRDLAARNVLLAQGKIVKICDFGLARDIMHDSNY
VSKGSTFLPVKWMAPESIFDNLYTTLSDVWSYGILLWEIFSLGGTPYPGMMVDSTFYNKIKSGYRMAKPDHATSEVYEIMVKCWNSEPEK
RPSFYHLSEIVENLLPGQYKKSYEKIHLDFLKSDHPAVARMRVDSDNAYIGVTYKNEEDKLKDWEGGLDEQRLSADSGYIIPLPDIDPVP

--------------------------------------------------------------

>30424_30424_2_FIP1L1-PDGFRA_FIP1L1_chr4_54292132_ENST00000306932_PDGFRA_chr4_55141092_ENST00000257290_length(amino acids)=491AA_BP=
MGSGAFGKVVEGTAYGLSRSQPVMKVAVKMLKPTARSSEKQALMSELKIMTHLGPHLNIVNLLGACTKSGPIYIITEYCFYGDLVNYLHK
NRDSFLSHHPEKPKKELDIFGLNPADESTRSYVILSFENNGDYMDMKQADTTQYVPMLERKEVSKYSDIQRSLYDRPASYKKKSMLDSEV
KNLLSDDNSEGLTLLDLLSFTYQVARGMEFLASKNCVHRDLAARNVLLAQGKIVKICDFGLARDIMHDSNYVSKGSTFLPVKWMAPESIF
DNLYTTLSDVWSYGILLWEIFSLGGTPYPGMMVDSTFYNKIKSGYRMAKPDHATSEVYEIMVKCWNSEPEKRPSFYHLSEIVENLLPGQY
KKSYEKIHLDFLKSDHPAVARMRVDSDNAYIGVTYKNEEDKLKDWEGGLDEQRLSADSGYIIPLPDIDPVPEEEDLGKRNRHSSQTSEES

--------------------------------------------------------------

>30424_30424_3_FIP1L1-PDGFRA_FIP1L1_chr4_54292132_ENST00000337488_PDGFRA_chr4_55141089_ENST00000257290_length(amino acids)=510AA_BP=1
MPYDSRWEFPRDGLVLGRVLGSGAFGKVVEGTAYGLSRSQPVMKVAVKMLKPTARSSEKQALMSELKIMTHLGPHLNIVNLLGACTKSGP
IYIITEYCFYGDLVNYLHKNRDSFLSHHPEKPKKELDIFGLNPADESTRSYVILSFENNGDYMDMKQADTTQYVPMLERKEVSKYSDIQR
SLYDRPASYKKKSMLDSEVKNLLSDDNSEGLTLLDLLSFTYQVARGMEFLASKNCVHRDLAARNVLLAQGKIVKICDFGLARDIMHDSNY
VSKGSTFLPVKWMAPESIFDNLYTTLSDVWSYGILLWEIFSLGGTPYPGMMVDSTFYNKIKSGYRMAKPDHATSEVYEIMVKCWNSEPEK
RPSFYHLSEIVENLLPGQYKKSYEKIHLDFLKSDHPAVARMRVDSDNAYIGVTYKNEEDKLKDWEGGLDEQRLSADSGYIIPLPDIDPVP

--------------------------------------------------------------

>30424_30424_4_FIP1L1-PDGFRA_FIP1L1_chr4_54292132_ENST00000337488_PDGFRA_chr4_55141092_ENST00000257290_length(amino acids)=491AA_BP=
MGSGAFGKVVEGTAYGLSRSQPVMKVAVKMLKPTARSSEKQALMSELKIMTHLGPHLNIVNLLGACTKSGPIYIITEYCFYGDLVNYLHK
NRDSFLSHHPEKPKKELDIFGLNPADESTRSYVILSFENNGDYMDMKQADTTQYVPMLERKEVSKYSDIQRSLYDRPASYKKKSMLDSEV
KNLLSDDNSEGLTLLDLLSFTYQVARGMEFLASKNCVHRDLAARNVLLAQGKIVKICDFGLARDIMHDSNYVSKGSTFLPVKWMAPESIF
DNLYTTLSDVWSYGILLWEIFSLGGTPYPGMMVDSTFYNKIKSGYRMAKPDHATSEVYEIMVKCWNSEPEKRPSFYHLSEIVENLLPGQY
KKSYEKIHLDFLKSDHPAVARMRVDSDNAYIGVTYKNEEDKLKDWEGGLDEQRLSADSGYIIPLPDIDPVPEEEDLGKRNRHSSQTSEES

--------------------------------------------------------------

>30424_30424_5_FIP1L1-PDGFRA_FIP1L1_chr4_54292132_ENST00000358575_PDGFRA_chr4_55141089_ENST00000257290_length(amino acids)=510AA_BP=1
MPYDSRWEFPRDGLVLGRVLGSGAFGKVVEGTAYGLSRSQPVMKVAVKMLKPTARSSEKQALMSELKIMTHLGPHLNIVNLLGACTKSGP
IYIITEYCFYGDLVNYLHKNRDSFLSHHPEKPKKELDIFGLNPADESTRSYVILSFENNGDYMDMKQADTTQYVPMLERKEVSKYSDIQR
SLYDRPASYKKKSMLDSEVKNLLSDDNSEGLTLLDLLSFTYQVARGMEFLASKNCVHRDLAARNVLLAQGKIVKICDFGLARDIMHDSNY
VSKGSTFLPVKWMAPESIFDNLYTTLSDVWSYGILLWEIFSLGGTPYPGMMVDSTFYNKIKSGYRMAKPDHATSEVYEIMVKCWNSEPEK
RPSFYHLSEIVENLLPGQYKKSYEKIHLDFLKSDHPAVARMRVDSDNAYIGVTYKNEEDKLKDWEGGLDEQRLSADSGYIIPLPDIDPVP

--------------------------------------------------------------

>30424_30424_6_FIP1L1-PDGFRA_FIP1L1_chr4_54292132_ENST00000358575_PDGFRA_chr4_55141092_ENST00000257290_length(amino acids)=491AA_BP=
MGSGAFGKVVEGTAYGLSRSQPVMKVAVKMLKPTARSSEKQALMSELKIMTHLGPHLNIVNLLGACTKSGPIYIITEYCFYGDLVNYLHK
NRDSFLSHHPEKPKKELDIFGLNPADESTRSYVILSFENNGDYMDMKQADTTQYVPMLERKEVSKYSDIQRSLYDRPASYKKKSMLDSEV
KNLLSDDNSEGLTLLDLLSFTYQVARGMEFLASKNCVHRDLAARNVLLAQGKIVKICDFGLARDIMHDSNYVSKGSTFLPVKWMAPESIF
DNLYTTLSDVWSYGILLWEIFSLGGTPYPGMMVDSTFYNKIKSGYRMAKPDHATSEVYEIMVKCWNSEPEKRPSFYHLSEIVENLLPGQY
KKSYEKIHLDFLKSDHPAVARMRVDSDNAYIGVTYKNEEDKLKDWEGGLDEQRLSADSGYIIPLPDIDPVPEEEDLGKRNRHSSQTSEES

--------------------------------------------------------------

>30424_30424_7_FIP1L1-PDGFRA_FIP1L1_chr4_54292132_ENST00000507166_PDGFRA_chr4_55141089_ENST00000257290_length(amino acids)=510AA_BP=1
MPYDSRWEFPRDGLVLGRVLGSGAFGKVVEGTAYGLSRSQPVMKVAVKMLKPTARSSEKQALMSELKIMTHLGPHLNIVNLLGACTKSGP
IYIITEYCFYGDLVNYLHKNRDSFLSHHPEKPKKELDIFGLNPADESTRSYVILSFENNGDYMDMKQADTTQYVPMLERKEVSKYSDIQR
SLYDRPASYKKKSMLDSEVKNLLSDDNSEGLTLLDLLSFTYQVARGMEFLASKNCVHRDLAARNVLLAQGKIVKICDFGLARDIMHDSNY
VSKGSTFLPVKWMAPESIFDNLYTTLSDVWSYGILLWEIFSLGGTPYPGMMVDSTFYNKIKSGYRMAKPDHATSEVYEIMVKCWNSEPEK
RPSFYHLSEIVENLLPGQYKKSYEKIHLDFLKSDHPAVARMRVDSDNAYIGVTYKNEEDKLKDWEGGLDEQRLSADSGYIIPLPDIDPVP

--------------------------------------------------------------

>30424_30424_8_FIP1L1-PDGFRA_FIP1L1_chr4_54292132_ENST00000507166_PDGFRA_chr4_55141092_ENST00000257290_length(amino acids)=491AA_BP=
MGSGAFGKVVEGTAYGLSRSQPVMKVAVKMLKPTARSSEKQALMSELKIMTHLGPHLNIVNLLGACTKSGPIYIITEYCFYGDLVNYLHK
NRDSFLSHHPEKPKKELDIFGLNPADESTRSYVILSFENNGDYMDMKQADTTQYVPMLERKEVSKYSDIQRSLYDRPASYKKKSMLDSEV
KNLLSDDNSEGLTLLDLLSFTYQVARGMEFLASKNCVHRDLAARNVLLAQGKIVKICDFGLARDIMHDSNYVSKGSTFLPVKWMAPESIF
DNLYTTLSDVWSYGILLWEIFSLGGTPYPGMMVDSTFYNKIKSGYRMAKPDHATSEVYEIMVKCWNSEPEKRPSFYHLSEIVENLLPGQY
KKSYEKIHLDFLKSDHPAVARMRVDSDNAYIGVTYKNEEDKLKDWEGGLDEQRLSADSGYIIPLPDIDPVPEEEDLGKRNRHSSQTSEES

--------------------------------------------------------------

>30424_30424_9_FIP1L1-PDGFRA_FIP1L1_chr4_54292132_ENST00000507922_PDGFRA_chr4_55141089_ENST00000257290_length(amino acids)=510AA_BP=1
MPYDSRWEFPRDGLVLGRVLGSGAFGKVVEGTAYGLSRSQPVMKVAVKMLKPTARSSEKQALMSELKIMTHLGPHLNIVNLLGACTKSGP
IYIITEYCFYGDLVNYLHKNRDSFLSHHPEKPKKELDIFGLNPADESTRSYVILSFENNGDYMDMKQADTTQYVPMLERKEVSKYSDIQR
SLYDRPASYKKKSMLDSEVKNLLSDDNSEGLTLLDLLSFTYQVARGMEFLASKNCVHRDLAARNVLLAQGKIVKICDFGLARDIMHDSNY
VSKGSTFLPVKWMAPESIFDNLYTTLSDVWSYGILLWEIFSLGGTPYPGMMVDSTFYNKIKSGYRMAKPDHATSEVYEIMVKCWNSEPEK
RPSFYHLSEIVENLLPGQYKKSYEKIHLDFLKSDHPAVARMRVDSDNAYIGVTYKNEEDKLKDWEGGLDEQRLSADSGYIIPLPDIDPVP

--------------------------------------------------------------

>30424_30424_10_FIP1L1-PDGFRA_FIP1L1_chr4_54292132_ENST00000507922_PDGFRA_chr4_55141092_ENST00000257290_length(amino acids)=491AA_BP=
MGSGAFGKVVEGTAYGLSRSQPVMKVAVKMLKPTARSSEKQALMSELKIMTHLGPHLNIVNLLGACTKSGPIYIITEYCFYGDLVNYLHK
NRDSFLSHHPEKPKKELDIFGLNPADESTRSYVILSFENNGDYMDMKQADTTQYVPMLERKEVSKYSDIQRSLYDRPASYKKKSMLDSEV
KNLLSDDNSEGLTLLDLLSFTYQVARGMEFLASKNCVHRDLAARNVLLAQGKIVKICDFGLARDIMHDSNYVSKGSTFLPVKWMAPESIF
DNLYTTLSDVWSYGILLWEIFSLGGTPYPGMMVDSTFYNKIKSGYRMAKPDHATSEVYEIMVKCWNSEPEKRPSFYHLSEIVENLLPGQY
KKSYEKIHLDFLKSDHPAVARMRVDSDNAYIGVTYKNEEDKLKDWEGGLDEQRLSADSGYIIPLPDIDPVPEEEDLGKRNRHSSQTSEES

--------------------------------------------------------------

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr4:54310214/chr4:55156649)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
FIP1L1 Q6UN15	PDGFRA P16234
FUNCTION: Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. FIP1L1 contributes to poly(A) site recognition and stimulates poly(A) addition. Binds to U-rich RNA sequence elements surrounding the poly(A) site. May act to tether poly(A) polymerase to the CPSF complex. {ECO:0000269\|PubMed:14749727}.	FUNCTION: Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal development of the mucosa lining the gastrointestinal tract, and for recruitment of mesenchymal cells and normal development of intestinal villi. Plays a role in cell migration and chemotaxis in wound healing. Plays a role in platelet activation, secretion of agonists from platelet granules, and in thrombin-induced platelet aggregation. Binding of its cognate ligands - homodimeric PDGFA, homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFC -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PIK3R1, PLCG1, and PTPN11. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylates PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and thereby mediates activation of the AKT1 signaling pathway. Mediates activation of HRAS and of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3 and STAT5A and/or STAT5B. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor. {ECO:0000269\|PubMed:10734113, ECO:0000269\|PubMed:10947961, ECO:0000269\|PubMed:11297552, ECO:0000269\|PubMed:12522257, ECO:0000269\|PubMed:1646396, ECO:0000269\|PubMed:17087943, ECO:0000269\|PubMed:1709159, ECO:0000269\|PubMed:17141222, ECO:0000269\|PubMed:20972453, ECO:0000269\|PubMed:21224473, ECO:0000269\|PubMed:21596750, ECO:0000269\|PubMed:2554309, ECO:0000269\|PubMed:8188664, ECO:0000269\|PubMed:8760137, ECO:0000269\|PubMed:8943348}.

Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page
* Minus value of BPloci means that the break pointn is located before the CDS.

- Retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000257290

1041_1087

1090.0

Compositional bias

Note=Ser-rich

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000508170

1041_1087

219.0

Compositional bias

Note=Ser-rich

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000257290

117_201

1090.0

Domain

Note=Ig-like C2-type 2

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000257290

202_306

1090.0

Domain

Note=Ig-like C2-type 3

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000257290

24_113

1090.0

Domain

Note=Ig-like C2-type 1

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000257290

319_410

1090.0

Domain

Note=Ig-like C2-type 4

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000257290

414_517

1090.0

Domain

Note=Ig-like C2-type 5

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000257290

593_954

1090.0

Domain

Protein kinase

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000508170

117_201

219.0

Domain

Note=Ig-like C2-type 2

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000508170

202_306

219.0

Domain

Note=Ig-like C2-type 3

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000508170

24_113

219.0

Domain

Note=Ig-like C2-type 1

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000508170

319_410

219.0

Domain

Note=Ig-like C2-type 4

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000508170

414_517

219.0

Domain

Note=Ig-like C2-type 5

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000508170

593_954

219.0

Domain

Protein kinase

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000257290

599_607

1090.0

Nucleotide binding

ATP

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000508170

599_607

219.0

Nucleotide binding

ATP

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000257290

24_528

1090.0

Topological domain

Extracellular

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000257290

550_1089

1090.0

Topological domain

Cytoplasmic

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000508170

24_528

219.0

Topological domain

Extracellular

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000508170

550_1089

219.0

Topological domain

Cytoplasmic

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000257290

529_549

1090.0

Transmembrane

Helical

Tgene

PDGFRA

chr4:54292132

chr4:55141092

ENST00000508170

529_549

219.0

Transmembrane

Helical

- Not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000306932

356_406

265.0

521.0

Compositional bias

Note=Pro-rich

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000306932

456_562

265.0

521.0

Compositional bias

Note=Arg-rich

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000306932

478_594

265.0

521.0

Compositional bias

Note=Glu-rich

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000337488

356_406

339.0

595.0

Compositional bias

Note=Pro-rich

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000337488

456_562

339.0

595.0

Compositional bias

Note=Arg-rich

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000337488

478_594

339.0

595.0

Compositional bias

Note=Glu-rich

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000358575

356_406

324.0

589.0

Compositional bias

Note=Pro-rich

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000358575

456_562

324.0

589.0

Compositional bias

Note=Arg-rich

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000358575

478_594

324.0

589.0

Compositional bias

Note=Glu-rich

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000507166

356_406

339.0

850.0

Compositional bias

Note=Pro-rich

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000507166

456_562

339.0

850.0

Compositional bias

Note=Arg-rich

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000507166

478_594

339.0

850.0

Compositional bias

Note=Glu-rich

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000507922

356_406

324.0

379.0

Compositional bias

Note=Pro-rich

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000507922

456_562

324.0

379.0

Compositional bias

Note=Arg-rich

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000507922

478_594

324.0

379.0

Compositional bias

Note=Glu-rich

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000306932

1_356

265.0

521.0

Region

Note=Necessary for stimulating PAPOLA activity

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000306932

457_490

265.0

521.0

Region

Arg/Asp/Glu-rich domain

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000337488

1_356

339.0

595.0

Region

Note=Necessary for stimulating PAPOLA activity

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000337488

457_490

339.0

595.0

Region

Arg/Asp/Glu-rich domain

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000358575

1_356

324.0

589.0

Region

Note=Necessary for stimulating PAPOLA activity

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000358575

457_490

324.0

589.0

Region

Arg/Asp/Glu-rich domain

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000507166

1_356

339.0

850.0

Region

Note=Necessary for stimulating PAPOLA activity

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000507166

457_490

339.0

850.0

Region

Arg/Asp/Glu-rich domain

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000507922

1_356

324.0

379.0

Region

Note=Necessary for stimulating PAPOLA activity

Hgene

FIP1L1

chr4:54292132

chr4:55141092

ENST00000507922

457_490

324.0

379.0

Region

Arg/Asp/Glu-rich domain

Top

Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
FIP1L1
PDGFRA

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

Related Drugs to FIP1L1-PDGFRA

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to FIP1L1-PDGFRA

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	PDGFRA	C0238198	Gastrointestinal Stromal Tumors	10	CGI;CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	PDGFRA	C3179349	Gastrointestinal Stromal Sarcoma	9	CLINGEN;CTD_human;ORPHANET
Tgene	PDGFRA	C0346421	Chronic eosinophilic leukemia	4	ORPHANET
Tgene	PDGFRA	C0206141	Idiopathic Hypereosinophilic Syndrome	3	CTD_human;GENOMICS_ENGLAND
Tgene	PDGFRA	C0006413	Burkitt Lymphoma	2	ORPHANET
Tgene	PDGFRA	C0206142	Eosinophilic leukemia	2	CTD_human
Tgene	PDGFRA	C0206143	Loeffler's Endocarditis	2	CTD_human
Tgene	PDGFRA	C1292769	Precursor B-cell lymphoblastic leukemia	2	ORPHANET
Tgene	PDGFRA	C1540912	Hypereosinophilic syndrome	2	CGI;CTD_human
Tgene	PDGFRA	C0008925	Cleft Palate	1	CTD_human
Tgene	PDGFRA	C0015923	Fetal Alcohol Syndrome	1	PSYGENET
Tgene	PDGFRA	C0018801	Heart failure	1	CTD_human
Tgene	PDGFRA	C0018802	Congestive heart failure	1	CTD_human
Tgene	PDGFRA	C0023212	Left-Sided Heart Failure	1	CTD_human
Tgene	PDGFRA	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
Tgene	PDGFRA	C0024115	Lung diseases	1	CTD_human
Tgene	PDGFRA	C0025149	Medulloblastoma	1	CTD_human
Tgene	PDGFRA	C0035238	Congenital abnormality of respiratory system	1	CTD_human
Tgene	PDGFRA	C0038219	Status Dysraphicus	1	CTD_human
Tgene	PDGFRA	C0080178	Spina Bifida	1	CTD_human
Tgene	PDGFRA	C0205833	Medullomyoblastoma	1	CTD_human
Tgene	PDGFRA	C0206637	Mesenchymal Chondrosarcoma	1	CTD_human
Tgene	PDGFRA	C0235527	Heart Failure, Right-Sided	1	CTD_human
Tgene	PDGFRA	C0266508	Rachischisis	1	CTD_human
Tgene	PDGFRA	C0278510	Childhood Medulloblastoma	1	CTD_human
Tgene	PDGFRA	C0278876	Adult Medulloblastoma	1	CTD_human
Tgene	PDGFRA	C0376634	Craniofacial Abnormalities	1	CTD_human
Tgene	PDGFRA	C0751291	Desmoplastic Medulloblastoma	1	CTD_human
Tgene	PDGFRA	C1275668	Melanotic medulloblastoma	1	CTD_human
Tgene	PDGFRA	C1837218	Cleft palate, isolated	1	CTD_human
Tgene	PDGFRA	C1959583	Myocardial Failure	1	CTD_human
Tgene	PDGFRA	C1961112	Heart Decompensation	1	CTD_human
Tgene	PDGFRA	C2718076	Fetal Mummification	1	CTD_human
Tgene	PDGFRA	C2985290	Fetal Alcohol Spectrum Disorders	1	PSYGENET
Tgene	PDGFRA	C4545381	Myeloid and/or lymphoid neoplasm associated with platelet derived growth factor receptor alpha rearrangement	1	ORPHANET