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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:PDGFB-HNF4A (FusionGDB2 ID:HG5155TG3172) |
Fusion Gene Summary for PDGFB-HNF4A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PDGFB-HNF4A | Fusion gene ID: hg5155tg3172 | Hgene | Tgene | Gene symbol | PDGFB | HNF4A | Gene ID | 5155 | 3172 |
| Gene name | platelet derived growth factor subunit B | hepatocyte nuclear factor 4 alpha | |
| Synonyms | IBGC5|PDGF-2|PDGF2|SIS|SSV|c-sis | FRTS4|HNF4|HNF4a7|HNF4a8|HNF4a9|HNF4alpha|MODY|MODY1|NR2A1|NR2A21|TCF|TCF14 | |
| Cytomap | ('PDGFB')('HNF4A') 22q13.1 | 20q13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | platelet-derived growth factor subunit BPDGF subunit BPDGF, B chainbecaplerminepididymis secretory sperm binding proteinplatelet-derived growth factor 2platelet-derived growth factor B chainplatelet-derived growth factor beta polypeptide (simian sa | hepatocyte nuclear factor 4-alphaHNF4alpha10/11/12TCF-14hepatic nuclear factor 4 alphanuclear receptor subfamily 2 group A member 1transcription factor 14transcription factor HNF-4 | |
| Modification date | 20200313 | 20200329 | |
| UniProtAcc | P01127 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000331163, ENST00000381551, | ||
| Fusion gene scores | * DoF score | 4 X 5 X 3=60 | 6 X 6 X 5=180 |
| # samples | 5 | 7 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/180*10)=-1.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PDGFB [Title/Abstract] AND HNF4A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | PDGFB(39619689)-HNF4A(42990332), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 |
| Hgene | PDGFB | GO:0001938 | positive regulation of endothelial cell proliferation | 9685360 |
| Hgene | PDGFB | GO:0002548 | monocyte chemotaxis | 17991872 |
| Hgene | PDGFB | GO:0006468 | protein phosphorylation | 17942966 |
| Hgene | PDGFB | GO:0008284 | positive regulation of cell proliferation | 2439522|2836953|7073684 |
| Hgene | PDGFB | GO:0009611 | response to wounding | 2538439 |
| Hgene | PDGFB | GO:0010512 | negative regulation of phosphatidylinositol biosynthetic process | 2538439 |
| Hgene | PDGFB | GO:0010544 | negative regulation of platelet activation | 2538439 |
| Hgene | PDGFB | GO:0010628 | positive regulation of gene expression | 23554459|24008408 |
| Hgene | PDGFB | GO:0010629 | negative regulation of gene expression | 23554459|25089138 |
| Hgene | PDGFB | GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling | 10734101|11788434|17942966 |
| Hgene | PDGFB | GO:0014911 | positive regulation of smooth muscle cell migration | 9409235 |
| Hgene | PDGFB | GO:0018105 | peptidyl-serine phosphorylation | 16530387 |
| Hgene | PDGFB | GO:0018108 | peptidyl-tyrosine phosphorylation | 10734101|16530387 |
| Hgene | PDGFB | GO:0030335 | positive regulation of cell migration | 11788434|21245381 |
| Hgene | PDGFB | GO:0031954 | positive regulation of protein autophosphorylation | 12070119|16530387 |
| Hgene | PDGFB | GO:0032091 | negative regulation of protein binding | 22619279 |
| Hgene | PDGFB | GO:0032147 | activation of protein kinase activity | 16530387 |
| Hgene | PDGFB | GO:0032148 | activation of protein kinase B activity | 16530387 |
| Hgene | PDGFB | GO:0035655 | interleukin-18-mediated signaling pathway | 21321938 |
| Hgene | PDGFB | GO:0035793 | positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway | 19019919 |
| Hgene | PDGFB | GO:0043406 | positive regulation of MAP kinase activity | 9685360|11788434|16530387|17942966 |
| Hgene | PDGFB | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 9685360 |
| Hgene | PDGFB | GO:0043552 | positive regulation of phosphatidylinositol 3-kinase activity | 16530387 |
| Hgene | PDGFB | GO:0045737 | positive regulation of cyclin-dependent protein serine/threonine kinase activity | 16530387 |
| Hgene | PDGFB | GO:0045840 | positive regulation of mitotic nuclear division | 10644978|10734101|17942966 |
| Hgene | PDGFB | GO:0045892 | negative regulation of transcription, DNA-templated | 16530387|25089138 |
| Hgene | PDGFB | GO:0045893 | positive regulation of transcription, DNA-templated | 16530387|17324121 |
| Hgene | PDGFB | GO:0048008 | platelet-derived growth factor receptor signaling pathway | 2439522|2536956|2836953|19088079|21245381|23554459 |
| Hgene | PDGFB | GO:0048146 | positive regulation of fibroblast proliferation | 2439522|10644978|17324121 |
| Hgene | PDGFB | GO:0048661 | positive regulation of smooth muscle cell proliferation | 21321938 |
| Hgene | PDGFB | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 21245381 |
| Hgene | PDGFB | GO:0050921 | positive regulation of chemotaxis | 9409235|19019919 |
| Hgene | PDGFB | GO:0060326 | cell chemotaxis | 16014047|17991872|21245381 |
| Hgene | PDGFB | GO:0061098 | positive regulation of protein tyrosine kinase activity | 16530387 |
| Hgene | PDGFB | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 11788434|16530387|17942966 |
| Hgene | PDGFB | GO:0071363 | cellular response to growth factor stimulus | 21245381 |
| Hgene | PDGFB | GO:0072126 | positive regulation of glomerular mesangial cell proliferation | 11788434|16014047 |
| Hgene | PDGFB | GO:0090280 | positive regulation of calcium ion import | 19019919 |
| Hgene | PDGFB | GO:1900127 | positive regulation of hyaluronan biosynthetic process | 17324121 |
| Hgene | PDGFB | GO:1902894 | negative regulation of pri-miRNA transcription by RNA polymerase II | 26493107 |
| Hgene | PDGFB | GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II | 19088079 |
| Hgene | PDGFB | GO:1904707 | positive regulation of vascular smooth muscle cell proliferation | 12070119|19088079|23554459 |
| Hgene | PDGFB | GO:1904754 | positive regulation of vascular associated smooth muscle cell migration | 12070119|19088079|23554459 |
| Hgene | PDGFB | GO:1905064 | negative regulation of vascular smooth muscle cell differentiation | 19088079 |
| Hgene | PDGFB | GO:1905176 | positive regulation of vascular smooth muscle cell dedifferentiation | 19088079 |
| Hgene | PDGFB | GO:2000379 | positive regulation of reactive oxygen species metabolic process | 19019919 |
| Hgene | PDGFB | GO:2000573 | positive regulation of DNA biosynthetic process | 10644978|10734101|11788434|12070119|16530387|17942966|19019919 |
| Hgene | PDGFB | GO:2000591 | positive regulation of metanephric mesenchymal cell migration | 10734101 |
| Tgene | HNF4A | GO:0006357 | regulation of transcription by RNA polymerase II | 10330009|12911579 |
| Tgene | HNF4A | GO:0007596 | blood coagulation | 12911579 |
| Tgene | HNF4A | GO:0019216 | regulation of lipid metabolic process | 10551874 |
| Tgene | HNF4A | GO:0045892 | negative regulation of transcription, DNA-templated | 30530698 |
| Tgene | HNF4A | GO:0045893 | positive regulation of transcription, DNA-templated | 16488887 |
| Tgene | HNF4A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 7615825 |
| 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 |
| ChiTaRS5.0 | N/A | BC029822 | PDGFB | chr22 | 39619689 | - | HNF4A | chr20 | 42990332 | + |
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Fusion Gene ORF analysis for PDGFB-HNF4A |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-intron | ENST00000331163 | ENST00000316099 | PDGFB | chr22 | 39619689 | - | HNF4A | chr20 | 42990332 | + |
| intron-intron | ENST00000331163 | ENST00000316673 | PDGFB | chr22 | 39619689 | - | HNF4A | chr20 | 42990332 | + |
| intron-intron | ENST00000331163 | ENST00000415691 | PDGFB | chr22 | 39619689 | - | HNF4A | chr20 | 42990332 | + |
| intron-intron | ENST00000331163 | ENST00000443598 | PDGFB | chr22 | 39619689 | - | HNF4A | chr20 | 42990332 | + |
| intron-intron | ENST00000331163 | ENST00000457232 | PDGFB | chr22 | 39619689 | - | HNF4A | chr20 | 42990332 | + |
| intron-intron | ENST00000331163 | ENST00000609795 | PDGFB | chr22 | 39619689 | - | HNF4A | chr20 | 42990332 | + |
| intron-intron | ENST00000381551 | ENST00000316099 | PDGFB | chr22 | 39619689 | - | HNF4A | chr20 | 42990332 | + |
| intron-intron | ENST00000381551 | ENST00000316673 | PDGFB | chr22 | 39619689 | - | HNF4A | chr20 | 42990332 | + |
| intron-intron | ENST00000381551 | ENST00000415691 | PDGFB | chr22 | 39619689 | - | HNF4A | chr20 | 42990332 | + |
| intron-intron | ENST00000381551 | ENST00000443598 | PDGFB | chr22 | 39619689 | - | HNF4A | chr20 | 42990332 | + |
| intron-intron | ENST00000381551 | ENST00000457232 | PDGFB | chr22 | 39619689 | - | HNF4A | chr20 | 42990332 | + |
| intron-intron | ENST00000381551 | ENST00000609795 | PDGFB | chr22 | 39619689 | - | HNF4A | chr20 | 42990332 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| 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 |
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Fusion Genomic Features for PDGFB-HNF4A |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for PDGFB-HNF4A |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:39619689/:42990332) - 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PDGFB | . |
| FUNCTION: Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin (PubMed:26599395). Required for normal proliferation and recruitment of pericytes and vascular smooth muscle cells in the central nervous system, skin, lung, heart and placenta. Required for normal blood vessel development, and for normal development of kidney glomeruli. Plays an important role in wound healing. Signaling is modulated by the formation of heterodimers with PDGFA (By similarity). {ECO:0000250|UniProtKB:P31240, ECO:0000269|PubMed:26599395}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
| 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 * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and 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 |
| - In-frame and 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 |
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Fusion Gene Sequence for PDGFB-HNF4A |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for PDGFB-HNF4A |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for PDGFB-HNF4A |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for PDGFB-HNF4A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PDGFB | C3809645 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | PDGFB | C0393590 | Fahr's syndrome (disorder) | 3 | GENOMICS_ENGLAND;ORPHANET |
| Hgene | PDGFB | C0004782 | Basal Ganglia Diseases | 1 | CTD_human |
| Hgene | PDGFB | C0006663 | Calcinosis | 1 | CTD_human |
| Hgene | PDGFB | C0015371 | Extrapyramidal Disorders | 1 | CTD_human |
| Hgene | PDGFB | C0016059 | Fibrosis | 1 | CTD_human |
| Hgene | PDGFB | C0017566 | Gingival Hyperplasia | 1 | CTD_human |
| Hgene | PDGFB | C0025286 | Meningioma | 1 | ORPHANET |
| Hgene | PDGFB | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| Hgene | PDGFB | C0035309 | Retinal Diseases | 1 | CTD_human |
| Hgene | PDGFB | C0040028 | Thrombocythemia, Essential | 1 | CTD_human |
| Hgene | PDGFB | C0263628 | Tumoral calcinosis | 1 | CTD_human |
| Hgene | PDGFB | C0521174 | Microcalcification | 1 | CTD_human |
| Hgene | PDGFB | C0750951 | Lenticulostriate Disorders | 1 | CTD_human |
| Hgene | PDGFB | C1623038 | Cirrhosis | 1 | CTD_human |
| Hgene | PDGFB | C2239176 | Liver carcinoma | 1 | CTD_human |
| Hgene | PDGFB | C3489628 | Thrombocytosis, Autosomal Dominant | 1 | CTD_human |
| Hgene | PDGFB | C4551624 | Idiopathic basal ganglia calcification 1 | 1 | CTD_human |
| Hgene | PDGFB | C4721507 | Alveolitis, Fibrosing | 1 | CTD_human |
| Tgene | C1852093 | Maturity-Onset Diabetes of the Young, Type 1 | 8 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C3888631 | Monogenic diabetes | 7 | CLINGEN;GENOMICS_ENGLAND | |
| Tgene | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C4014962 | FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C0342276 | Maturity onset diabetes mellitus in young | 2 | GENOMICS_ENGLAND;ORPHANET | |
| Tgene | C4274078 | Hyperinsulinism due to HNF4A deficiency | 2 | ORPHANET | |
| Tgene | C0009324 | Ulcerative Colitis | 1 | CTD_human | |
| Tgene | C0431693 | Renal cysts and diabetes syndrome | 1 | ORPHANET |
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