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Fusion Protein:CDC5L-VEGFA |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: CDC5L-VEGFA | FusionPDB ID: 14927 | FusionGDB2.0 ID: 14927 | Hgene | Tgene | Gene symbol | CDC5L | VEGFA | Gene ID | 988 | 7422 |
| Gene name | cell division cycle 5 like | vascular endothelial growth factor A | |
| Synonyms | CDC5|CDC5-LIKE|CEF1|PCDC5RP|dJ319D22.1 | MVCD1|VEGF|VPF | |
| Cytomap | 6p21.1 | 6p21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cell division cycle 5-like proteinCDC5 cell division cycle 5-likeCdc5-related proteindJ319D22.1 (CDC5-like protein)pombe cdc5-related protein | vascular endothelial growth factor Avascular endothelial growth factor A121vascular endothelial growth factor A165vascular permeability factor | |
| Modification date | 20200313 | 20200329 | |
| UniProtAcc | Q99459 | . | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000371477, | ENST00000230480, ENST00000372064, ENST00000372077, ENST00000425836, ENST00000457104, ENST00000482630, ENST00000518689, ENST00000518824, ENST00000520948, ENST00000523125, ENST00000523873, ENST00000523950, ENST00000372055, ENST00000372067, ENST00000417285, ENST00000324450, ENST00000413642, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 10 X 4 X 7=280 | 10 X 9 X 5=450 |
| # samples | 11 | 13 | |
| ** MAII score | log2(11/280*10)=-1.34792330342031 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/450*10)=-1.79141337818858 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: CDC5L [Title/Abstract] AND VEGFA [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | CDC5L(44376369)-VEGFA(43752278), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | CDC5L-VEGFA 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. CDC5L-VEGFA 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. CDC5L-VEGFA 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. CDC5L-VEGFA 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. CDC5L-VEGFA seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. CDC5L-VEGFA seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. CDC5L-VEGFA seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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 |
| Hgene | CDC5L | GO:0000398 | mRNA splicing, via spliceosome | 28076346 |
| Hgene | CDC5L | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11082045 |
| Tgene | VEGFA | GO:0000122 | negative regulation of transcription by RNA polymerase II | 18093989 |
| Tgene | VEGFA | GO:0001525 | angiogenesis | 11427521|21771332 |
| Tgene | VEGFA | GO:0001666 | response to hypoxia | 16490744 |
| Tgene | VEGFA | GO:0001934 | positive regulation of protein phosphorylation | 18386220|19033661 |
| Tgene | VEGFA | GO:0001938 | positive regulation of endothelial cell proliferation | 9202027|10022831|12714610|16489009|18386220|18577655|20497126 |
| Tgene | VEGFA | GO:0002042 | cell migration involved in sprouting angiogenesis | 18059339|20660291 |
| Tgene | VEGFA | GO:0002092 | positive regulation of receptor internalization | 20660291 |
| Tgene | VEGFA | GO:0008284 | positive regulation of cell proliferation | 7929439 |
| Tgene | VEGFA | GO:0008360 | regulation of cell shape | 7929439|10527820 |
| Tgene | VEGFA | GO:0010595 | positive regulation of endothelial cell migration | 10022831|19033661 |
| Tgene | VEGFA | GO:0010628 | positive regulation of gene expression | 18386220 |
| Tgene | VEGFA | GO:0010629 | negative regulation of gene expression | 28977001 |
| Tgene | VEGFA | GO:0010749 | regulation of nitric oxide mediated signal transduction | 16150726 |
| Tgene | VEGFA | GO:0030224 | monocyte differentiation | 21149635 |
| Tgene | VEGFA | GO:0030225 | macrophage differentiation | 21149635 |
| Tgene | VEGFA | GO:0030335 | positive regulation of cell migration | 7929439|17470632 |
| Tgene | VEGFA | GO:0030949 | positive regulation of vascular endothelial growth factor receptor signaling pathway | 1312256|7929439 |
| Tgene | VEGFA | GO:0031334 | positive regulation of protein complex assembly | 16489009|19033661 |
| Tgene | VEGFA | GO:0031954 | positive regulation of protein autophosphorylation | 20497126 |
| Tgene | VEGFA | GO:0032147 | activation of protein kinase activity | 18059339|20497126 |
| Tgene | VEGFA | GO:0032793 | positive regulation of CREB transcription factor activity | 20497126 |
| Tgene | VEGFA | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 18440775|20497126 |
| Tgene | VEGFA | GO:0035148 | tube formation | 19033661 |
| Tgene | VEGFA | GO:0035767 | endothelial cell chemotaxis | 18440775 |
| Tgene | VEGFA | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 18440775|20497126 |
| Tgene | VEGFA | GO:0038033 | positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway | 18440775|20497126|21245381 |
| Tgene | VEGFA | GO:0038091 | positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway | 17470632 |
| Tgene | VEGFA | GO:0042531 | positive regulation of tyrosine phosphorylation of STAT protein | 19390056 |
| Tgene | VEGFA | GO:0043117 | positive regulation of vascular permeability | 26598555 |
| Tgene | VEGFA | GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 18386220 |
| Tgene | VEGFA | GO:0043406 | positive regulation of MAP kinase activity | 18440775 |
| Tgene | VEGFA | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 9202027|18440775|20497126 |
| Tgene | VEGFA | GO:0045766 | positive regulation of angiogenesis | 18440775|18577655|19033661|20497126 |
| Tgene | VEGFA | GO:0045785 | positive regulation of cell adhesion | 19674970 |
| Tgene | VEGFA | GO:0045944 | positive regulation of transcription by RNA polymerase II | 18059339 |
| Tgene | VEGFA | GO:0048010 | vascular endothelial growth factor receptor signaling pathway | 21245381 |
| Tgene | VEGFA | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 10022831|16489009|20048167|21245381|26598555 |
| Tgene | VEGFA | GO:0050918 | positive chemotaxis | 20497126 |
| Tgene | VEGFA | GO:0050927 | positive regulation of positive chemotaxis | 7929439|12744932 |
| Tgene | VEGFA | GO:0051272 | positive regulation of cellular component movement | 10527820|12744932 |
| Tgene | VEGFA | GO:0051894 | positive regulation of focal adhesion assembly | 16489009 |
| Tgene | VEGFA | GO:0071456 | cellular response to hypoxia | 10575000 |
| Tgene | VEGFA | GO:0090037 | positive regulation of protein kinase C signaling | 18059339 |
| Tgene | VEGFA | GO:0090050 | positive regulation of cell migration involved in sprouting angiogenesis | 20551324 |
| Tgene | VEGFA | GO:0097533 | cellular stress response to acid chemical | 26299712 |
| Tgene | VEGFA | GO:1900086 | positive regulation of peptidyl-tyrosine autophosphorylation | 20660291 |
| Tgene | VEGFA | GO:1900745 | positive regulation of p38MAPK cascade | 18386220 |
| Tgene | VEGFA | GO:1901727 | positive regulation of histone deacetylase activity | 20497126 |
| Tgene | VEGFA | GO:1903141 | negative regulation of establishment of endothelial barrier | 20048167 |
| Tgene | VEGFA | GO:1903392 | negative regulation of adherens junction organization | 26598555 |
| Tgene | VEGFA | GO:1903572 | positive regulation of protein kinase D signaling | 20497126 |
| Tgene | VEGFA | GO:1903672 | positive regulation of sprouting angiogenesis | 26299712 |
| Tgene | VEGFA | GO:2000048 | negative regulation of cell-cell adhesion mediated by cadherin | 26598555 |
| Fusion gene breakpoints across CDC5L (5'-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 breakpoints across VEGFA (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 | BRCA | TCGA-A7-A26G-01A | CDC5L | chr6 | 44376369 | + | VEGFA | chr6 | 43752278 | + |
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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) |
| ENST00000371477 | CDC5L | chr6 | 44376369 | + | ENST00000324450 | VEGFA | chr6 | 43752278 | + | 1413 | 1391 | 275 | 1396 | 373 |
| ENST00000371477 | CDC5L | chr6 | 44376369 | + | ENST00000413642 | VEGFA | chr6 | 43752278 | + | 1440 | 1391 | 275 | 1396 | 373 |
| 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 |
| ENST00000371477 | ENST00000324450 | CDC5L | chr6 | 44376369 | + | VEGFA | chr6 | 43752278 | + | 0.001572438 | 0.9984276 |
| ENST00000371477 | ENST00000413642 | CDC5L | chr6 | 44376369 | + | VEGFA | chr6 | 43752278 | + | 0.001594428 | 0.99840564 |
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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 >14927_14927_1_CDC5L-VEGFA_CDC5L_chr6_44376369_ENST00000371477_VEGFA_chr6_43752278_ENST00000324450_length(amino acids)=373AA_BP= MPRHPAAKMPRIMIKGGVWRNTEDEILKAAVMKYGKNQWSRIASLLHRKSAKQCKARWYEWLDPSIKKTEWSREEEEKLLHLAKLMPTQW RTIAPIIGRTAAQCLEHYEFLLDKAAQRDNEEETTDDPRKLKPGEIDPNPETKPARPDPIDMDEDELEMLSEARARLANTQGKKAKRKAR EKQLEEARRLAALQKRRELRAAGIEIQKKRKRKRGVDYNAEIPFEKKPALGFYDTSEENYQALDADFRKLRQQDLDGELRSEKEGRDRKK DKQHLKRKKESDLPSAILQTSGVSEFTKKRSKLVLPAPQISDAELQEVVKVGQASEIARQTAEESGITNSASSTLLSEYNVTNNSVALRT -------------------------------------------------------------- >14927_14927_2_CDC5L-VEGFA_CDC5L_chr6_44376369_ENST00000371477_VEGFA_chr6_43752278_ENST00000413642_length(amino acids)=373AA_BP= MPRHPAAKMPRIMIKGGVWRNTEDEILKAAVMKYGKNQWSRIASLLHRKSAKQCKARWYEWLDPSIKKTEWSREEEEKLLHLAKLMPTQW RTIAPIIGRTAAQCLEHYEFLLDKAAQRDNEEETTDDPRKLKPGEIDPNPETKPARPDPIDMDEDELEMLSEARARLANTQGKKAKRKAR EKQLEEARRLAALQKRRELRAAGIEIQKKRKRKRGVDYNAEIPFEKKPALGFYDTSEENYQALDADFRKLRQQDLDGELRSEKEGRDRKK DKQHLKRKKESDLPSAILQTSGVSEFTKKRSKLVLPAPQISDAELQEVVKVGQASEIARQTAEESGITNSASSTLLSEYNVTNNSVALRT -------------------------------------------------------------- |
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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/chr6:44376369/chr6:43752278) - 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 |
| CDC5L | . |
| FUNCTION: DNA-binding protein involved in cell cycle control. May act as a transcription activator. Plays role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes (PubMed:11991638, PubMed:20176811, PubMed:28502770, PubMed:28076346, PubMed:29361316, PubMed:29360106, PubMed:29301961, PubMed:30728453, PubMed:30705154). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR) (PubMed:20176811). {ECO:0000269|PubMed:10570151, ECO:0000269|PubMed:11082045, ECO:0000269|PubMed:11101529, ECO:0000269|PubMed:11544257, ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:12927788, ECO:0000269|PubMed:18583928, ECO:0000269|PubMed:20176811, ECO:0000269|PubMed:24332808, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:29301961, ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316, ECO:0000269|PubMed:30705154, ECO:0000269|PubMed:30728453, ECO:0000269|PubMed:9038199, ECO:0000269|PubMed:9468527, ECO:0000269|PubMed:9632794}. | FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. |
| 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. |
| - 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 | CDC5L | chr6:44376369 | chr6:43752278 | ENST00000371477 | + | 8 | 16 | 142_245 | 364.0 | 803.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | CDC5L | chr6:44376369 | chr6:43752278 | ENST00000371477 | + | 8 | 16 | 31_54 | 364.0 | 803.0 | DNA binding | H-T-H motif |
| Hgene | CDC5L | chr6:44376369 | chr6:43752278 | ENST00000371477 | + | 8 | 16 | 82_104 | 364.0 | 803.0 | DNA binding | H-T-H motif |
| Hgene | CDC5L | chr6:44376369 | chr6:43752278 | ENST00000371477 | + | 8 | 16 | 1_56 | 364.0 | 803.0 | Domain | HTH myb-type 1 |
| Hgene | CDC5L | chr6:44376369 | chr6:43752278 | ENST00000371477 | + | 8 | 16 | 57_108 | 364.0 | 803.0 | Domain | HTH myb-type 2 |
| Hgene | CDC5L | chr6:44376369 | chr6:43752278 | ENST00000371477 | + | 8 | 16 | 165_271 | 364.0 | 803.0 | Motif | Nuclear localization signal |
| - 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 | CDC5L | chr6:44376369 | chr6:43752278 | ENST00000371477 | + | 8 | 16 | 676_701 | 364.0 | 803.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | CDC5L | chr6:44376369 | chr6:43752278 | ENST00000371477 | + | 8 | 16 | 764_802 | 364.0 | 803.0 | Coiled coil | Ontology_term=ECO:0000255 |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| CDC5L | |
| VEGFA |
| - 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 |
| Hgene | CDC5L | chr6:44376369 | chr6:43752278 | ENST00000371477 | + | 8 | 16 | 501_659 | 364.0 | 803.0 | DAPK3 |
| Hgene | CDC5L | chr6:44376369 | chr6:43752278 | ENST00000371477 | + | 8 | 16 | 706_800 | 364.0 | 803.0 | PLRG1 |
| Hgene | CDC5L | chr6:44376369 | chr6:43752278 | ENST00000371477 | + | 8 | 16 | 260_606 | 364.0 | 803.0 | PPP1R8 |
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Related Drugs to CDC5L-VEGFA |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to CDC5L-VEGFA |
| 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 |
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