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Fusion gene ID: 8829 |
FusionGeneSummary for CTNNB1_BOLA2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CTNNB1_BOLA2 | Fusion gene ID: 8829 | Hgene | Tgene | Gene symbol | CTNNB1 | BOLA2 | Gene ID | 1499 | 654483 |
| Gene name | catenin beta 1 | bolA family member 2B | |
| Synonyms | CTNNB|EVR7|MRD19|armadillo | BOLA2 | |
| Cytomap | 3p22.1 | 16p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | catenin beta-1catenin (cadherin-associated protein), beta 1, 88kDa | bolA-like protein 2BolA-like protein 2 member BbolA homolog 2BbolA-like protein 2B | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | P35222 | Q9H3K6 | |
| Ensembl transtripts involved in fusion gene | ENST00000471014, ENST00000405570, ENST00000396183, ENST00000349496, ENST00000453024, ENST00000396185, | ENST00000330978, | |
| Fusion gene scores | * DoF score | 12 X 9 X 6=648 | 19 X 26 X 1=494 |
| # samples | 12 | 28 | |
| ** MAII score | log2(12/648*10)=-2.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(28/494*10)=-0.819084214639711 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CTNNB1 [Title/Abstract] AND BOLA2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | CTNNB1 | GO:0008285 | negative regulation of cell proliferation | 12970740 |
| Hgene | CTNNB1 | GO:0030997 | regulation of centriole-centriole cohesion | 18086858 |
| Hgene | CTNNB1 | GO:0032355 | response to estradiol | 15304487 |
| Hgene | CTNNB1 | GO:0033234 | negative regulation of protein sumoylation | 22155184 |
| Hgene | CTNNB1 | GO:0043065 | positive regulation of apoptotic process | 12651860|12970740 |
| Hgene | CTNNB1 | GO:0043525 | positive regulation of neuron apoptotic process | 19591802 |
| Hgene | CTNNB1 | GO:0045893 | positive regulation of transcription, DNA-templated | 12970740|18787224 |
| Hgene | CTNNB1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9065402|11751639|12651860|14660579|18193033 |
| Hgene | CTNNB1 | GO:0060070 | canonical Wnt signaling pathway | 10644691|12937339|19187541 |
| Hgene | CTNNB1 | GO:0071681 | cellular response to indole-3-methanol | 10868478 |
| Hgene | CTNNB1 | GO:0090279 | regulation of calcium ion import | 19996314 |
| Hgene | CTNNB1 | GO:1904798 | positive regulation of core promoter binding | 22723415 |
| Hgene | CTNNB1 | GO:2000008 | regulation of protein localization to cell surface | 19996314 |
| Tgene | BOLA2 | GO:0044571 | [2Fe-2S] cluster assembly | 27519415 |
| Tgene | BOLA2 | GO:0097428 | protein maturation by iron-sulfur cluster transfer | 27519415 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AK098472 | CTNNB1 | chr3 | 41281339 | + | BOLA2 | chr16 | 29465668 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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-3CDS | ENST00000471014 | ENST00000330978 | CTNNB1 | chr3 | 41281339 | + | BOLA2 | chr16 | 29465668 | - |
| intron-3CDS | ENST00000405570 | ENST00000330978 | CTNNB1 | chr3 | 41281339 | + | BOLA2 | chr16 | 29465668 | - |
| 3UTR-3CDS | ENST00000396183 | ENST00000330978 | CTNNB1 | chr3 | 41281339 | + | BOLA2 | chr16 | 29465668 | - |
| 3UTR-3CDS | ENST00000349496 | ENST00000330978 | CTNNB1 | chr3 | 41281339 | + | BOLA2 | chr16 | 29465668 | - |
| intron-3CDS | ENST00000453024 | ENST00000330978 | CTNNB1 | chr3 | 41281339 | + | BOLA2 | chr16 | 29465668 | - |
| 3UTR-3CDS | ENST00000396185 | ENST00000330978 | CTNNB1 | chr3 | 41281339 | + | BOLA2 | chr16 | 29465668 | - |
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FusionProtFeatures for CTNNB1_BOLA2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CTNNB1 | BOLA2 |
| Key downstream component of the canonical Wnt signalingpathway. In the absence of Wnt, forms a complex with AXIN1, AXIN2,APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminalSer and Thr residues and ubiquitination of CTNNB1 via BTRC and itssubsequent degradation by the proteasome. In the presence of Wntligand, CTNNB1 is not ubiquitinated and accumulates in thenucleus, where it acts as a coactivator for transcription factorsof the TCF/LEF family, leading to activate Wnt responsive genes.Involved in the regulation of cell adhesion, as component of an E-cadherin:catenin adhesion complex. Acts as a negative regulator ofcentrosome cohesion. Involved in the CDK2/PTPN6/CTNNB1/CEACAM1pathway of insulin internalization. Blocks anoikis of malignantkidney and intestinal epithelial cells and promotes theiranchorage-independent growth by down-regulating DAPK2. DisruptsPML function and PML-NB formation by inhibiting RANBP2-mediatedsumoylation of PML (PubMed:17524503, PubMed:18077326,PubMed:18086858, PubMed:18957423, PubMed:21262353,PubMed:22647378, PubMed:22699938, PubMed:22155184). Promotesneurogenesis by maintaining sympathetic neuroblasts within thecell cycle (By similarity). {ECO:0000250|UniProtKB:Q02248,ECO:0000269|PubMed:17524503, ECO:0000269|PubMed:18077326,ECO:0000269|PubMed:18086858, ECO:0000269|PubMed:18957423,ECO:0000269|PubMed:21262353, ECO:0000269|PubMed:22155184,ECO:0000269|PubMed:22647378, ECO:0000269|PubMed:22699938}. | Acts as a cytosolic iron-sulfur (Fe-S) cluster assemblyfactor that facilitates [2Fe-2S] cluster insertion into a subsetof cytosolic proteins (PubMed:26613676, PubMed:27519415). Actstogether with the monothiol glutaredoxin GLRX3 (PubMed:26613676,PubMed:27519415). {ECO:0000269|PubMed:26613676,ECO:0000269|PubMed:27519415}. |
| 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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FusionGeneSequence for CTNNB1_BOLA2 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for CTNNB1_BOLA2 |
| 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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RelatedDrugs for CTNNB1_BOLA2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CTNNB1_BOLA2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CTNNB1 | C0009375 | Colonic Neoplasms | 9 | CTD_human |
| Hgene | CTNNB1 | C0206711 | Pilomatrixoma | 8 | CTD_human;HPO;ORPHANET;UNIPROT |
| Hgene | CTNNB1 | C0009404 | Colorectal Neoplasms | 4 | CTD_human |
| Hgene | CTNNB1 | C0001418 | Adenocarcinoma | 3 | CTD_human |
| Hgene | CTNNB1 | C0023904 | Liver Neoplasms, Experimental | 3 | CTD_human |
| Hgene | CTNNB1 | C0025149 | Medulloblastoma | 3 | CTD_human;HPO;UNIPROT |
| Hgene | CTNNB1 | C1527249 | Colorectal Cancer | 3 | UNIPROT |
| Hgene | CTNNB1 | C1879526 | Aberrant Crypt Foci | 3 | CTD_human |
| Hgene | CTNNB1 | C2239176 | Liver carcinoma | 3 | CTD_human;HPO |
| Hgene | CTNNB1 | C0001430 | Adenoma | 2 | CTD_human |
| Hgene | CTNNB1 | C0023903 | Liver neoplasms | 2 | CTD_human |
| Hgene | CTNNB1 | C0036341 | Schizophrenia | 2 | PSYGENET |
| Hgene | CTNNB1 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| Hgene | CTNNB1 | C0001624 | Adrenal Gland Neoplasms | 1 | CTD_human |
| Hgene | CTNNB1 | C0007528 | Cecal Neoplasms | 1 | CTD_human |
| Hgene | CTNNB1 | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
| Hgene | CTNNB1 | C0010276 | Craniopharyngioma | 1 | CTD_human;ORPHANET |
| Hgene | CTNNB1 | C0018923 | Hemangiosarcoma | 1 | CTD_human |
| Hgene | CTNNB1 | C0021841 | Intestinal Neoplasms | 1 | CTD_human |
| Hgene | CTNNB1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Hgene | CTNNB1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | CTNNB1 | C0026846 | Muscular Atrophy | 1 | CTD_human |
| Hgene | CTNNB1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | CTNNB1 | C0027708 | Nephroblastoma | 1 | CTD_human |
| Hgene | CTNNB1 | C0027746 | Nerve Degeneration | 1 | CTD_human |
| Hgene | CTNNB1 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| Hgene | CTNNB1 | C0031149 | Peritoneal Neoplasms | 1 | CTD_human |
| Hgene | CTNNB1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | CTNNB1 | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
| Hgene | CTNNB1 | C0206624 | Hepatoblastoma | 1 | CTD_human |
| Hgene | CTNNB1 | C0206669 | Hepatocellular Adenoma | 1 | CTD_human |
| Hgene | CTNNB1 | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
| Hgene | CTNNB1 | C0232347 | No-Reflow Phenomenon | 1 | CTD_human |
| Hgene | CTNNB1 | C0334634 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 1 | CTD_human |
| Hgene | CTNNB1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| Hgene | CTNNB1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | CTNNB1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Hgene | CTNNB1 | C3554449 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 | 1 | ORPHANET;UNIPROT |
| Hgene | CTNNB1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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