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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:CBFB-CBFB (FusionGDB2 ID:HG865TG865) |
Fusion Gene Summary for CBFB-CBFB |
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Fusion gene information | Fusion gene name: CBFB-CBFB | Fusion gene ID: hg865tg865 | Hgene | Tgene | Gene symbol | CBFB | CBFB | Gene ID | 865 | 865 |
Gene name | core-binding factor subunit beta | core-binding factor subunit beta | |
Synonyms | PEBP2B | PEBP2B | |
Cytomap | ('CBFB')('CBFB') 16q22.1 | 16q22.1 | |
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 | 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 | |
Modification date | 20200320 | 20200320 | |
UniProtAcc | Q13951 | Q13951 | |
Ensembl transtripts involved in fusion gene | ENST00000290858, ENST00000412916, ENST00000561924, ENST00000568858, | ENST00000290858, ENST00000412916, ENST00000561924, ENST00000568858, | |
Fusion gene scores | * DoF score | 17 X 18 X 12=3672 | 3 X 3 X 3=27 |
# samples | 33 | 3 | |
** MAII score | log2(33/3672*10)=-3.47602812916799 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CBFB [Title/Abstract] AND CBFB [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CBFB(67134716)-CBFB(67134770), # 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() * 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 |
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Fusion Gene ORF analysis for CBFB-CBFB |
![]() * 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 |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for CBFB-CBFB |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for CBFB-CBFB |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:67134716/:67134770) - 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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Hgene | Tgene |
CBFB | CBFB |
FUNCTION: Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. {ECO:0000250|UniProtKB:Q08024}. | FUNCTION: Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. {ECO:0000250|UniProtKB:Q08024}. |
![]() * 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 CBFB-CBFB |
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Fusion Gene PPI Analysis for CBFB-CBFB |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for CBFB-CBFB |
![]() (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 CBFB-CBFB |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CBFB | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
Hgene | CBFB | C0023479 | Acute myelomonocytic leukemia | 2 | CTD_human;ORPHANET |
Hgene | CBFB | C0026998 | Acute Myeloid Leukemia, M1 | 2 | CTD_human |
Hgene | CBFB | C1879321 | Acute Myeloid Leukemia (AML-M2) | 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 | C0029396 | Heterotopic Ossification | 1 | CTD_human |
Hgene | CBFB | C1837218 | Cleft palate, isolated | 1 | CTD_human |
Tgene | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human | |
Tgene | C0023479 | Acute myelomonocytic leukemia | 2 | CTD_human;ORPHANET | |
Tgene | C0026998 | Acute Myeloid Leukemia, M1 | 2 | CTD_human | |
Tgene | C1879321 | Acute Myeloid Leukemia (AML-M2) | 2 | CTD_human | |
Tgene | C0005941 | Bone Diseases, Developmental | 1 | CTD_human | |
Tgene | C0008925 | Cleft Palate | 1 | CTD_human | |
Tgene | C0018798 | Congenital Heart Defects | 1 | CTD_human | |
Tgene | C0029396 | Heterotopic Ossification | 1 | CTD_human | |
Tgene | C1837218 | Cleft palate, isolated | 1 | CTD_human |