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Fusion Protein:CBLB-PGK1 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: CBLB-PGK1 | FusionPDB ID: 13387 | FusionGDB2.0 ID: 13387 | Hgene | Tgene | Gene symbol | CBLB | PGK1 | Gene ID | 868 | 5230 |
| Gene name | Cbl proto-oncogene B | phosphoglycerate kinase 1 | |
| Synonyms | Cbl-b|Nbla00127|RNF56 | HEL-S-68p|MIG10|PGKA | |
| Cytomap | 3q13.11 | Xq21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase CBL-BCas-Br-M (murine) ecotropic retroviral transforming sequence bCbl proto-oncogene B, E3 ubiquitin protein ligaseCbl proto-oncogene, E3 ubiquitin protein ligase BRING finger protein 56RING-type E3 ubiquitin transferase | phosphoglycerate kinase 1PRP 2cell migration-inducing gene 10 proteinepididymis secretory sperm binding protein Li 68pprimer recognition protein 2 | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | Q13191 | . | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000545639, ENST00000264122, ENST00000394027, ENST00000403724, ENST00000405772, ENST00000407712, | ENST00000373316, ENST00000442431, ENST00000476531, ENST00000537456, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 10 X 12 X 3=360 | 13 X 12 X 6=936 |
| # samples | 13 | 14 | |
| ** MAII score | log2(13/360*10)=-1.46948528330122 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/936*10)=-2.74108170263844 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: CBLB [Title/Abstract] AND PGK1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | CBLB(105452852)-PGK1(77369512), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | CBLB-PGK1 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. CBLB-PGK1 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. CBLB-PGK1 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. CBLB-PGK1 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. CBLB-PGK1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. CBLB-PGK1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. CBLB-PGK1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. CBLB-PGK1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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 | PGK1 | GO:0071456 | cellular response to hypoxia | 11130727 |
| Fusion gene breakpoints across CBLB (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 PGK1 (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 | OV | TCGA-04-1651 | CBLB | chr3 | 105452852 | - | PGK1 | chrX | 77369512 | + |
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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) |
| ENST00000264122 | CBLB | chr3 | 105452852 | - | ENST00000373316 | PGK1 | chrX | 77369512 | + | 5973 | 1525 | 136 | 1674 | 512 |
| ENST00000403724 | CBLB | chr3 | 105452852 | - | ENST00000373316 | PGK1 | chrX | 77369512 | + | 5973 | 1525 | 136 | 1674 | 512 |
| ENST00000405772 | CBLB | chr3 | 105452852 | - | ENST00000373316 | PGK1 | chrX | 77369512 | + | 5973 | 1525 | 136 | 1674 | 512 |
| 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 |
| ENST00000264122 | ENST00000373316 | CBLB | chr3 | 105452852 | - | PGK1 | chrX | 77369512 | + | 0.001442293 | 0.99855775 |
| ENST00000403724 | ENST00000373316 | CBLB | chr3 | 105452852 | - | PGK1 | chrX | 77369512 | + | 0.001442293 | 0.99855775 |
| ENST00000405772 | ENST00000373316 | CBLB | chr3 | 105452852 | - | PGK1 | chrX | 77369512 | + | 0.001442293 | 0.99855775 |
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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 >13387_13387_1_CBLB-PGK1_CBLB_chr3_105452852_ENST00000264122_PGK1_chrX_77369512_ENST00000373316_length(amino acids)=512AA_BP=462 MLRFHVSEACALGCSFFGSELFSAIPLPAGAPHTHWAACVWSGTRAHACLWTATAPKELKFQMANSMNGRNPGGRGGNPRKGRILGIIDA IQDAVGPPKQAAADRRTVEKTWKLMDKVVRLCQNPKLQLKNSPPYILDILPDTYQHLRLILSKYDDNQKLAQLSENEYFKIYIDSLMKKS KRAIRLFKEGKERMYEEQSQDRRNLTKLSLIFSHMLAEIKAIFPNGQFQGDNFRITKADAAEFWRKFFGDKTIVPWKVFRQCLHEVHQIS SGLEAMALKSTIDLTCNDYISVFEFDIFTRLFQPWGSILRNWNFLAVTHPGYMAFLTYDEVKARLQKYSTKPGSYIFRLSCTRLGQWAIG YVTGDGNILQTIPHNKPLFQALIDGSREGFYLYPDGRSYNPDLTGLCEPTPHDHIKVTQEQYELYCEMGSTFQLCKICAENDKDVKIEPC -------------------------------------------------------------- >13387_13387_2_CBLB-PGK1_CBLB_chr3_105452852_ENST00000403724_PGK1_chrX_77369512_ENST00000373316_length(amino acids)=512AA_BP=462 MLRFHVSEACALGCSFFGSELFSAIPLPAGAPHTHWAACVWSGTRAHACLWTATAPKELKFQMANSMNGRNPGGRGGNPRKGRILGIIDA IQDAVGPPKQAAADRRTVEKTWKLMDKVVRLCQNPKLQLKNSPPYILDILPDTYQHLRLILSKYDDNQKLAQLSENEYFKIYIDSLMKKS KRAIRLFKEGKERMYEEQSQDRRNLTKLSLIFSHMLAEIKAIFPNGQFQGDNFRITKADAAEFWRKFFGDKTIVPWKVFRQCLHEVHQIS SGLEAMALKSTIDLTCNDYISVFEFDIFTRLFQPWGSILRNWNFLAVTHPGYMAFLTYDEVKARLQKYSTKPGSYIFRLSCTRLGQWAIG YVTGDGNILQTIPHNKPLFQALIDGSREGFYLYPDGRSYNPDLTGLCEPTPHDHIKVTQEQYELYCEMGSTFQLCKICAENDKDVKIEPC -------------------------------------------------------------- >13387_13387_3_CBLB-PGK1_CBLB_chr3_105452852_ENST00000405772_PGK1_chrX_77369512_ENST00000373316_length(amino acids)=512AA_BP=462 MLRFHVSEACALGCSFFGSELFSAIPLPAGAPHTHWAACVWSGTRAHACLWTATAPKELKFQMANSMNGRNPGGRGGNPRKGRILGIIDA IQDAVGPPKQAAADRRTVEKTWKLMDKVVRLCQNPKLQLKNSPPYILDILPDTYQHLRLILSKYDDNQKLAQLSENEYFKIYIDSLMKKS KRAIRLFKEGKERMYEEQSQDRRNLTKLSLIFSHMLAEIKAIFPNGQFQGDNFRITKADAAEFWRKFFGDKTIVPWKVFRQCLHEVHQIS SGLEAMALKSTIDLTCNDYISVFEFDIFTRLFQPWGSILRNWNFLAVTHPGYMAFLTYDEVKARLQKYSTKPGSYIFRLSCTRLGQWAIG YVTGDGNILQTIPHNKPLFQALIDGSREGFYLYPDGRSYNPDLTGLCEPTPHDHIKVTQEQYELYCEMGSTFQLCKICAENDKDVKIEPC -------------------------------------------------------------- |
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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/chr3:105452852/chrX:77369512) - 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 |
| CBLB | . |
| FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome. Negatively regulates TCR (T-cell receptor), BCR (B-cell receptor) and FCER1 (high affinity immunoglobulin epsilon receptor) signal transduction pathways. In naive T-cells, inhibits VAV1 activation upon TCR engagement and imposes a requirement for CD28 costimulation for proliferation and IL-2 production. Also acts by promoting PIK3R1/p85 ubiquitination, which impairs its recruitment to the TCR and subsequent activation. In activated T-cells, inhibits PLCG1 activation and calcium mobilization upon restimulation and promotes anergy. In B-cells, acts by ubiquitinating SYK and promoting its proteasomal degradation. Slightly promotes SRC ubiquitination. May be involved in EGFR ubiquitination and internalization. May be functionally coupled with the E2 ubiquitin-protein ligase UB2D3. In association with CBL, required for proper feedback inhibition of ciliary platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway via ubiquitination and internalization of PDGFRA (By similarity). {ECO:0000250|UniProtKB:Q3TTA7, ECO:0000269|PubMed:10022120, ECO:0000269|PubMed:10086340, ECO:0000269|PubMed:11087752, ECO:0000269|PubMed:11526404, ECO:0000269|PubMed:14661060, ECO:0000269|PubMed:20525694}. | 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 | CBLB | chr3:105452852 | chrX:77369512 | ENST00000264122 | - | 9 | 19 | 219_232 | 401.0 | 983.0 | Calcium binding | Ontology_term=ECO:0000255 |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000403724 | - | 9 | 15 | 219_232 | 401.0 | 771.0 | Calcium binding | Ontology_term=ECO:0000255 |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000264122 | - | 9 | 19 | 35_343 | 401.0 | 983.0 | Domain | Cbl-PTB |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000403724 | - | 9 | 15 | 35_343 | 401.0 | 771.0 | Domain | Cbl-PTB |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000264122 | - | 9 | 19 | 168_240 | 401.0 | 983.0 | Region | Note=EF-hand-like |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000264122 | - | 9 | 19 | 241_343 | 401.0 | 983.0 | Region | Note=SH2-like |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000264122 | - | 9 | 19 | 344_372 | 401.0 | 983.0 | Region | Note=Linker |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000264122 | - | 9 | 19 | 35_167 | 401.0 | 983.0 | Region | Note=4H |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000403724 | - | 9 | 15 | 168_240 | 401.0 | 771.0 | Region | Note=EF-hand-like |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000403724 | - | 9 | 15 | 241_343 | 401.0 | 771.0 | Region | Note=SH2-like |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000403724 | - | 9 | 15 | 344_372 | 401.0 | 771.0 | Region | Note=Linker |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000403724 | - | 9 | 15 | 35_167 | 401.0 | 771.0 | Region | Note=4H |
| Tgene | PGK1 | chr3:105452852 | chrX:77369512 | ENST00000373316 | 2 | 11 | 373_376 | 90.66666666666667 | 418.0 | Nucleotide binding | ATP |
| - 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 | CBLB | chr3:105452852 | chrX:77369512 | ENST00000264122 | - | 9 | 19 | 477_925 | 401.0 | 983.0 | Compositional bias | Note=Pro-rich |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000403724 | - | 9 | 15 | 477_925 | 401.0 | 771.0 | Compositional bias | Note=Pro-rich |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000264122 | - | 9 | 19 | 931_970 | 401.0 | 983.0 | Domain | UBA |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000403724 | - | 9 | 15 | 931_970 | 401.0 | 771.0 | Domain | UBA |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000264122 | - | 9 | 19 | 373_412 | 401.0 | 983.0 | Zinc finger | RING-type |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000403724 | - | 9 | 15 | 373_412 | 401.0 | 771.0 | Zinc finger | RING-type |
| Tgene | PGK1 | chr3:105452852 | chrX:77369512 | ENST00000373316 | 2 | 11 | 24_26 | 90.66666666666667 | 418.0 | Region | Substrate binding | |
| Tgene | PGK1 | chr3:105452852 | chrX:77369512 | ENST00000373316 | 2 | 11 | 63_66 | 90.66666666666667 | 418.0 | Region | Substrate binding |
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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 |
| CBLB | |
| PGK1 |
| - 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 | CBLB | chr3:105452852 | chrX:77369512 | ENST00000264122 | - | 9 | 19 | 891_927 | 401.0 | 983.0 | SH3KBP1 |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000403724 | - | 9 | 15 | 891_927 | 401.0 | 771.0 | SH3KBP1 |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000264122 | - | 9 | 19 | 543_568 | 401.0 | 983.0 | VAV1 |
| Hgene | CBLB | chr3:105452852 | chrX:77369512 | ENST00000403724 | - | 9 | 15 | 543_568 | 401.0 | 771.0 | VAV1 |
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Related Drugs to CBLB-PGK1 |
| 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 CBLB-PGK1 |
| 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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