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Fusion gene ID: 5670 |
FusionGeneSummary for CBFB_GSE1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CBFB_GSE1 | Fusion gene ID: 5670 | Hgene | Tgene | Gene symbol | CBFB | GSE1 | Gene ID | 865 | 23199 |
| Gene name | core-binding factor subunit beta | Gse1 coiled-coil protein | |
| Synonyms | PEBP2B | CRHSP24|KIAA0182 | |
| Cytomap | 16q22.1 | 16q24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | core-binding factor subunit betaCBF-betaPEA2-betaPEBP2-betaSL3-3 enhancer factor 1 beta subunitSL3-3 enhancer factor 1 subunit betaSL3/AKV core-binding factor beta subunitcore-binding factor beta subunitpolyomavirus enhancer binding protein 2, bet | genetic suppressor element 1CTC-786C10.1Gse1 coiled-coil protein homolog | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q13951 | Q14687 | |
| Ensembl transtripts involved in fusion gene | ENST00000561924, ENST00000290858, ENST00000412916, ENST00000568858, | ENST00000405402, ENST00000253458, ENST00000393243, ENST00000471070, | |
| Fusion gene scores | * DoF score | 14 X 14 X 9=1764 | 7 X 7 X 5=245 |
| # samples | 26 | 7 | |
| ** MAII score | log2(26/1764*10)=-2.76226703252907 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/245*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CBFB [Title/Abstract] AND GSE1 [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 |
| 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 |
| TCGA | LD | OV | TCGA-23-2084-01A | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
| * 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 |
| 5CDS-intron | ENST00000561924 | ENST00000405402 | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
| 5CDS-intron | ENST00000561924 | ENST00000253458 | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
| 5CDS-intron | ENST00000561924 | ENST00000393243 | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
| 5CDS-intron | ENST00000561924 | ENST00000471070 | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
| 5CDS-intron | ENST00000290858 | ENST00000405402 | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
| 5CDS-intron | ENST00000290858 | ENST00000253458 | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
| 5CDS-intron | ENST00000290858 | ENST00000393243 | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
| 5CDS-intron | ENST00000290858 | ENST00000471070 | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
| 5CDS-intron | ENST00000412916 | ENST00000405402 | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
| 5CDS-intron | ENST00000412916 | ENST00000253458 | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
| 5CDS-intron | ENST00000412916 | ENST00000393243 | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
| 5CDS-intron | ENST00000412916 | ENST00000471070 | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
| intron-intron | ENST00000568858 | ENST00000405402 | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
| intron-intron | ENST00000568858 | ENST00000253458 | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
| intron-intron | ENST00000568858 | ENST00000393243 | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
| intron-intron | ENST00000568858 | ENST00000471070 | CBFB | chr16 | 67116211 | + | GSE1 | chr16 | 85205195 | + |
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FusionProtFeatures for CBFB_GSE1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CBFB | GSE1 |
| Forms the heterodimeric complex core-binding factor(CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNXmembers modulate the transcription of their target genes throughrecognizing the core consensus binding sequence 5'-TGTGGT-3', orvery rarely, 5'-TGCGGT-3', within their regulatory regions viatheir runt domain, while CBFB is a non-DNA-binding regulatorysubunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core siteof a number of enhancers and promoters, including murine leukemiavirus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3and GM-CSF promoters. CBF complexes repress ZBTB7B transcriptionfactor during cytotoxic (CD8+) T cell development. They bind toRUNX-binding sequence within the ZBTB7B locus acting astranscriptional silencer and allowing for cytotoxic T celldifferentiation. {ECO:0000250|UniProtKB:Q08024}. |
| 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 CBFB_GSE1 |
| 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 CBFB_GSE1 |
| 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 |
| CBFB | CHGB, RUNX1, MYOD1, RUNX3, COPRS, KMT2A, ELAVL1, CUL5, APOBEC3G, MYC, RAB2A, TCEB1, RNF7, TCEB2, RUNX2, ARL6IP6, SERPINB5, SLC25A32, TAS2R41, CRIP1, GALK1, PPIA, SOD1, NFATC1, GCHFR, G3BP1 | GSE1 | NUDT18, RBPMS, RCOR3, HDAC2, KDM1A, RBM48, XRCC6, NR2E1, CDC5L, CEP63, TNIK, ELAVL1, TCF3, FUS, HDAC1, MTA3, EXOSC6, DGCR6, RUNX1T1, GOLGA2, TRIP6, RALBP1, GSE1, C1orf94, TEKT4, C6orf165, SNAI1, HMG20B, FGF1, DOK4, NTRK1, SRPK2, NINL, MAPK3, HMG20A, TCF4, EYA2, LLGL2, HAO2, FAM136A, NR3C1, AR, TRIM25 |
| - 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 CBFB_GSE1 |
| 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 CBFB_GSE1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CBFB | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
| Hgene | CBFB | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
| Hgene | CBFB | C0008925 | Cleft Palate | 1 | CTD_human |
| Hgene | CBFB | C0018798 | Congenital Heart Defects | 1 | CTD_human |
| Hgene | CBFB | C0023479 | Acute myelomonocytic leukemia | 1 | CTD_human;ORPHANET |
| Hgene | CBFB | C0029396 | Heterotopic Ossification | 1 | CTD_human |
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