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Fusion gene ID: 5670 |
FusionGeneSummary for CBFB_GSE1 |
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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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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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 |
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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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RelatedDrugs for CBFB_GSE1 |
![]() (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 |
![]() (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 |