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Fusion gene ID: 5675 |
FusionGeneSummary for CBFB_NDE1 |
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Fusion gene information | Fusion gene name: CBFB_NDE1 | Fusion gene ID: 5675 | Hgene | Tgene | Gene symbol | CBFB | NDE1 | Gene ID | 865 | 54820 |
Gene name | core-binding factor subunit beta | nudE neurodevelopment protein 1 | |
Synonyms | PEBP2B | HOM-TES-87|LIS4|MHAC|NDE|NUDE|NUDE1 | |
Cytomap | 16q22.1 | 16p13.11 | |
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 | nuclear distribution protein nudE homolog 1LIS1-interacting protein NUDE1, rat homolognudE nuclear distribution E homolog 1nudE nuclear distribution gene E homolog 1 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q13951 | Q9NXR1 | |
Ensembl transtripts involved in fusion gene | ENST00000561924, ENST00000290858, ENST00000412916, ENST00000568858, | ENST00000396353, ENST00000396355, ENST00000396354, ENST00000342673, ENST00000571896, | |
Fusion gene scores | * DoF score | 14 X 14 X 9=1764 | 13 X 17 X 2=442 |
# samples | 26 | 19 | |
** MAII score | log2(26/1764*10)=-2.76226703252907 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(19/442*10)=-1.21804695106048 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CBFB [Title/Abstract] AND NDE1 [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 |
ChiTaRS3.1 | AF249897 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - | ||
ChiTaRS3.1 | AF202996 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - | ||
ChiTaRS3.1 | AF249898 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - | ||
ChiTaRS3.1 | AF390859 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
* 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 | ENST00000396353 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
5CDS-3UTR | ENST00000561924 | ENST00000396355 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
5CDS-3UTR | ENST00000561924 | ENST00000396354 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
5CDS-3UTR | ENST00000561924 | ENST00000342673 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
5CDS-3UTR | ENST00000561924 | ENST00000571896 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
5CDS-intron | ENST00000290858 | ENST00000396353 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
5CDS-3UTR | ENST00000290858 | ENST00000396355 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
5CDS-3UTR | ENST00000290858 | ENST00000396354 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
5CDS-3UTR | ENST00000290858 | ENST00000342673 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
5CDS-3UTR | ENST00000290858 | ENST00000571896 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
5CDS-intron | ENST00000412916 | ENST00000396353 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
5CDS-3UTR | ENST00000412916 | ENST00000396355 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
5CDS-3UTR | ENST00000412916 | ENST00000396354 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
5CDS-3UTR | ENST00000412916 | ENST00000342673 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
5CDS-3UTR | ENST00000412916 | ENST00000571896 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
intron-intron | ENST00000568858 | ENST00000396353 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
intron-3UTR | ENST00000568858 | ENST00000396355 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
intron-3UTR | ENST00000568858 | ENST00000396354 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
intron-3UTR | ENST00000568858 | ENST00000342673 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
intron-3UTR | ENST00000568858 | ENST00000571896 | CBFB | chr16 | 67116211 | + | NDE1 | chr16 | 15818851 | - |
5CDS-intron | ENST00000561924 | ENST00000396353 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
5CDS-3UTR | ENST00000561924 | ENST00000396355 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
5CDS-3UTR | ENST00000561924 | ENST00000396354 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
5CDS-3UTR | ENST00000561924 | ENST00000342673 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
5CDS-3UTR | ENST00000561924 | ENST00000571896 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
5CDS-intron | ENST00000290858 | ENST00000396353 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
5CDS-3UTR | ENST00000290858 | ENST00000396355 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
5CDS-3UTR | ENST00000290858 | ENST00000396354 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
5CDS-3UTR | ENST00000290858 | ENST00000342673 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
5CDS-3UTR | ENST00000290858 | ENST00000571896 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
intron-intron | ENST00000412916 | ENST00000396353 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
intron-3UTR | ENST00000412916 | ENST00000396355 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
intron-3UTR | ENST00000412916 | ENST00000396354 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
intron-3UTR | ENST00000412916 | ENST00000342673 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
intron-3UTR | ENST00000412916 | ENST00000571896 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
intron-intron | ENST00000568858 | ENST00000396353 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
intron-3UTR | ENST00000568858 | ENST00000396355 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
intron-3UTR | ENST00000568858 | ENST00000396354 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
intron-3UTR | ENST00000568858 | ENST00000342673 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
intron-3UTR | ENST00000568858 | ENST00000571896 | CBFB | chr16 | 67116231 | + | NDE1 | chr16 | 15818658 | - |
5CDS-intron | ENST00000561924 | ENST00000396353 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
5CDS-intron | ENST00000561924 | ENST00000396355 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
5CDS-intron | ENST00000561924 | ENST00000396354 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
5CDS-intron | ENST00000561924 | ENST00000342673 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
5CDS-intron | ENST00000561924 | ENST00000571896 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
5CDS-intron | ENST00000290858 | ENST00000396353 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
5CDS-intron | ENST00000290858 | ENST00000396355 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
5CDS-intron | ENST00000290858 | ENST00000396354 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
5CDS-intron | ENST00000290858 | ENST00000342673 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
5CDS-intron | ENST00000290858 | ENST00000571896 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
5CDS-intron | ENST00000412916 | ENST00000396353 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
5CDS-intron | ENST00000412916 | ENST00000396355 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
5CDS-intron | ENST00000412916 | ENST00000396354 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
5CDS-intron | ENST00000412916 | ENST00000342673 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
5CDS-intron | ENST00000412916 | ENST00000571896 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
intron-intron | ENST00000568858 | ENST00000396353 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
intron-intron | ENST00000568858 | ENST00000396355 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
intron-intron | ENST00000568858 | ENST00000396354 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
intron-intron | ENST00000568858 | ENST00000342673 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
intron-intron | ENST00000568858 | ENST00000571896 | CBFB | chr16 | 67116213 | + | NDE1 | chr16 | 15814910 | - |
intron-intron | ENST00000561924 | ENST00000396353 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000561924 | ENST00000396355 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000561924 | ENST00000396354 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000561924 | ENST00000342673 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000561924 | ENST00000571896 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000290858 | ENST00000396353 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000290858 | ENST00000396355 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000290858 | ENST00000396354 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000290858 | ENST00000342673 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000290858 | ENST00000571896 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000412916 | ENST00000396353 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000412916 | ENST00000396355 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000412916 | ENST00000396354 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000412916 | ENST00000342673 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000412916 | ENST00000571896 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000568858 | ENST00000396353 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000568858 | ENST00000396355 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000568858 | ENST00000396354 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000568858 | ENST00000342673 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
intron-intron | ENST00000568858 | ENST00000571896 | CBFB | chr16 | 67120259 | + | NDE1 | chr16 | 15815070 | - |
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FusionProtFeatures for CBFB_NDE1 |
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Hgene | Tgene |
CBFB | NDE1 |
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}. | Required for centrosome duplication and formation andfunction of the mitotic spindle. Essential for the development ofthe cerebral cortex. May regulate the production of neurons bycontrolling the orientation of the mitotic spindle during divisionof cortical neuronal progenitors of the proliferative ventricularzone of the brain. Orientation of the division plane perpendicularto the layers of the cortex gives rise to two proliferativeneuronal progenitors whereas parallel orientation of the divisionplane yields one proliferative neuronal progenitor and a post-mitotic neuron. A premature shift towards a neuronal fate withinthe progenitor population may result in an overall reduction inthe final number of neurons and an increase in the number ofneurons in the deeper layers of the cortex.{ECO:0000269|PubMed:17600710, ECO:0000269|PubMed:21529752}. |
![]() * 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_NDE1 |
![]() (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_NDE1 |
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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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RelatedDrugs for CBFB_NDE1 |
![]() (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_NDE1 |
![]() (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 |
Tgene | NDE1 | C0036341 | Schizophrenia | 4 | PSYGENET |
Tgene | NDE1 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
Tgene | NDE1 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |