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Fusion Protein:CBFB-NAE1 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: CBFB-NAE1 | FusionPDB ID: 13373 | FusionGDB2.0 ID: 13373 | Hgene | Tgene | Gene symbol | CBFB | NAE1 | Gene ID | 865 | 8883 |
Gene name | core-binding factor subunit beta | NEDD8 activating enzyme E1 subunit 1 | |
Synonyms | PEBP2B | A-116A10.1|APPBP1|HPP1|ula-1 | |
Cytomap | 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 | NEDD8-activating enzyme E1 regulatory subunitAPP-BP1NEDD8-activating enzyme E1 subunitamyloid beta precursor protein binding protein 1, 59kDaamyloid beta precursor protein-binding protein 1, 59 kDaamyloid beta precursor protein-binding protein 1, 59k | |
Modification date | 20200320 | 20200313 | |
UniProtAcc | Q13951 | Q13564 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000290858, ENST00000412916, ENST00000561924, ENST00000568858, | ENST00000394074, ENST00000564040, ENST00000290810, ENST00000359087, ENST00000379463, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 17 X 18 X 12=3672 | 7 X 8 X 4=224 |
# samples | 33 | 9 | |
** MAII score | log2(33/3672*10)=-3.47602812916799 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/224*10)=-1.31550182572793 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: CBFB [Title/Abstract] AND NAE1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | CBFB(67070658)-NAE1(66857503), # samples:4 | ||
Anticipated loss of major functional domain due to fusion event. | CBFB-NAE1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CBFB-NAE1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* 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 |
Tgene | NAE1 | GO:0033314 | mitotic DNA replication checkpoint | 10722740 |
Tgene | NAE1 | GO:0042981 | regulation of apoptotic process | 14557245 |
Tgene | NAE1 | GO:0043523 | regulation of neuron apoptotic process | 10722740 |
Tgene | NAE1 | GO:0045116 | protein neddylation | 10207026|12740388 |
Tgene | NAE1 | GO:0051402 | neuron apoptotic process | 14557245 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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 |
ChimerDB4 | ESCA | TCGA-L5-A4OQ-01A | CBFB | chr16 | 67070658 | - | NAE1 | chr16 | 66857503 | - |
ChimerDB4 | ESCA | TCGA-L5-A4OQ-01A | CBFB | chr16 | 67070658 | + | NAE1 | chr16 | 66857503 | - |
ChimerDB4 | ESCA | TCGA-L5-A4OQ | CBFB | chr16 | 67070658 | + | NAE1 | chr16 | 66857503 | - |
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Fusion ORF Analysis |
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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) |
ENST00000290858 | CBFB | chr16 | 67070658 | + | ENST00000359087 | NAE1 | chr16 | 66857503 | - | 2033 | 543 | 261 | 1898 | 545 |
ENST00000290858 | CBFB | chr16 | 67070658 | + | ENST00000290810 | NAE1 | chr16 | 66857503 | - | 2033 | 543 | 261 | 1898 | 545 |
ENST00000290858 | CBFB | chr16 | 67070658 | + | ENST00000379463 | NAE1 | chr16 | 66857503 | - | 2028 | 543 | 261 | 1898 | 545 |
ENST00000412916 | CBFB | chr16 | 67070658 | + | ENST00000359087 | NAE1 | chr16 | 66857503 | - | 1935 | 445 | 163 | 1800 | 545 |
ENST00000412916 | CBFB | chr16 | 67070658 | + | ENST00000290810 | NAE1 | chr16 | 66857503 | - | 1935 | 445 | 163 | 1800 | 545 |
ENST00000412916 | CBFB | chr16 | 67070658 | + | ENST00000379463 | NAE1 | chr16 | 66857503 | - | 1930 | 445 | 163 | 1800 | 545 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000290858 | ENST00000359087 | CBFB | chr16 | 67070658 | + | NAE1 | chr16 | 66857503 | - | 0.000430665 | 0.99956936 |
ENST00000290858 | ENST00000290810 | CBFB | chr16 | 67070658 | + | NAE1 | chr16 | 66857503 | - | 0.000430665 | 0.99956936 |
ENST00000290858 | ENST00000379463 | CBFB | chr16 | 67070658 | + | NAE1 | chr16 | 66857503 | - | 0.000457779 | 0.99954224 |
ENST00000412916 | ENST00000359087 | CBFB | chr16 | 67070658 | + | NAE1 | chr16 | 66857503 | - | 0.000338175 | 0.9996618 |
ENST00000412916 | ENST00000290810 | CBFB | chr16 | 67070658 | + | NAE1 | chr16 | 66857503 | - | 0.000338175 | 0.9996618 |
ENST00000412916 | ENST00000379463 | CBFB | chr16 | 67070658 | + | NAE1 | chr16 | 66857503 | - | 0.000361975 | 0.99963796 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >13373_13373_1_CBFB-NAE1_CBFB_chr16_67070658_ENST00000290858_NAE1_chr16_66857503_ENST00000290810_length(amino acids)=545AA_BP=93 MPRVVPDQRSKFENEEFFRKLSRECEIKYTGFRDRPHEERQARFQNACRDGRSEIAFVATGTNLSLQFFPASWQGEQRQTPSREYVDLER EAGKNRAEAAMEFLQELNSDVSGSFVEESPENLLDNDPSFFCRFTVVVATQLPESTSLRLADVLWNSQIPLLICRTYGLVGYMRIIIKEH PVIESHPDNALEDLRLDKPFPELREHFQSYDLDHMEKKDHSHTPWIVIIAKYLAQWYSETNGRIPKTYKEKEDFRDLIRQGILKNENGAP EDEENFEEAIKNVNTALNTTQIPSSIEDIFNDDRCINITKQTPSFWILARALKEFVAKEGQGNLPVRGTIPDMIADSGKYIKLQNVYREK AKKDAAAVGNHVAKLLQSIGQAPESISEKELKLLCSNSAFLRVVRCRSLAEEYGLDTINKDEIISSMDNPDNEIVLYLMLRAVDRFHKQQ GRYPGVSNYQVEEDIGKLKSCLTGFLQEYGLSVMVKDDYVHEFCRYGAAEPHTIAAFLGGAAAQEVIKIITKQFVIFNNTYIYSGMSQTS -------------------------------------------------------------- >13373_13373_2_CBFB-NAE1_CBFB_chr16_67070658_ENST00000290858_NAE1_chr16_66857503_ENST00000359087_length(amino acids)=545AA_BP=93 MPRVVPDQRSKFENEEFFRKLSRECEIKYTGFRDRPHEERQARFQNACRDGRSEIAFVATGTNLSLQFFPASWQGEQRQTPSREYVDLER EAGKNRAEAAMEFLQELNSDVSGSFVEESPENLLDNDPSFFCRFTVVVATQLPESTSLRLADVLWNSQIPLLICRTYGLVGYMRIIIKEH PVIESHPDNALEDLRLDKPFPELREHFQSYDLDHMEKKDHSHTPWIVIIAKYLAQWYSETNGRIPKTYKEKEDFRDLIRQGILKNENGAP EDEENFEEAIKNVNTALNTTQIPSSIEDIFNDDRCINITKQTPSFWILARALKEFVAKEGQGNLPVRGTIPDMIADSGKYIKLQNVYREK AKKDAAAVGNHVAKLLQSIGQAPESISEKELKLLCSNSAFLRVVRCRSLAEEYGLDTINKDEIISSMDNPDNEIVLYLMLRAVDRFHKQQ GRYPGVSNYQVEEDIGKLKSCLTGFLQEYGLSVMVKDDYVHEFCRYGAAEPHTIAAFLGGAAAQEVIKIITKQFVIFNNTYIYSGMSQTS -------------------------------------------------------------- >13373_13373_3_CBFB-NAE1_CBFB_chr16_67070658_ENST00000290858_NAE1_chr16_66857503_ENST00000379463_length(amino acids)=545AA_BP=93 MPRVVPDQRSKFENEEFFRKLSRECEIKYTGFRDRPHEERQARFQNACRDGRSEIAFVATGTNLSLQFFPASWQGEQRQTPSREYVDLER EAGKNRAEAAMEFLQELNSDVSGSFVEESPENLLDNDPSFFCRFTVVVATQLPESTSLRLADVLWNSQIPLLICRTYGLVGYMRIIIKEH PVIESHPDNALEDLRLDKPFPELREHFQSYDLDHMEKKDHSHTPWIVIIAKYLAQWYSETNGRIPKTYKEKEDFRDLIRQGILKNENGAP EDEENFEEAIKNVNTALNTTQIPSSIEDIFNDDRCINITKQTPSFWILARALKEFVAKEGQGNLPVRGTIPDMIADSGKYIKLQNVYREK AKKDAAAVGNHVAKLLQSIGQAPESISEKELKLLCSNSAFLRVVRCRSLAEEYGLDTINKDEIISSMDNPDNEIVLYLMLRAVDRFHKQQ GRYPGVSNYQVEEDIGKLKSCLTGFLQEYGLSVMVKDDYVHEFCRYGAAEPHTIAAFLGGAAAQEVIKIITKQFVIFNNTYIYSGMSQTS -------------------------------------------------------------- >13373_13373_4_CBFB-NAE1_CBFB_chr16_67070658_ENST00000412916_NAE1_chr16_66857503_ENST00000290810_length(amino acids)=545AA_BP=93 MPRVVPDQRSKFENEEFFRKLSRECEIKYTGFRDRPHEERQARFQNACRDGRSEIAFVATGTNLSLQFFPASWQGEQRQTPSREYVDLER EAGKNRAEAAMEFLQELNSDVSGSFVEESPENLLDNDPSFFCRFTVVVATQLPESTSLRLADVLWNSQIPLLICRTYGLVGYMRIIIKEH PVIESHPDNALEDLRLDKPFPELREHFQSYDLDHMEKKDHSHTPWIVIIAKYLAQWYSETNGRIPKTYKEKEDFRDLIRQGILKNENGAP EDEENFEEAIKNVNTALNTTQIPSSIEDIFNDDRCINITKQTPSFWILARALKEFVAKEGQGNLPVRGTIPDMIADSGKYIKLQNVYREK AKKDAAAVGNHVAKLLQSIGQAPESISEKELKLLCSNSAFLRVVRCRSLAEEYGLDTINKDEIISSMDNPDNEIVLYLMLRAVDRFHKQQ GRYPGVSNYQVEEDIGKLKSCLTGFLQEYGLSVMVKDDYVHEFCRYGAAEPHTIAAFLGGAAAQEVIKIITKQFVIFNNTYIYSGMSQTS -------------------------------------------------------------- >13373_13373_5_CBFB-NAE1_CBFB_chr16_67070658_ENST00000412916_NAE1_chr16_66857503_ENST00000359087_length(amino acids)=545AA_BP=93 MPRVVPDQRSKFENEEFFRKLSRECEIKYTGFRDRPHEERQARFQNACRDGRSEIAFVATGTNLSLQFFPASWQGEQRQTPSREYVDLER EAGKNRAEAAMEFLQELNSDVSGSFVEESPENLLDNDPSFFCRFTVVVATQLPESTSLRLADVLWNSQIPLLICRTYGLVGYMRIIIKEH PVIESHPDNALEDLRLDKPFPELREHFQSYDLDHMEKKDHSHTPWIVIIAKYLAQWYSETNGRIPKTYKEKEDFRDLIRQGILKNENGAP EDEENFEEAIKNVNTALNTTQIPSSIEDIFNDDRCINITKQTPSFWILARALKEFVAKEGQGNLPVRGTIPDMIADSGKYIKLQNVYREK AKKDAAAVGNHVAKLLQSIGQAPESISEKELKLLCSNSAFLRVVRCRSLAEEYGLDTINKDEIISSMDNPDNEIVLYLMLRAVDRFHKQQ GRYPGVSNYQVEEDIGKLKSCLTGFLQEYGLSVMVKDDYVHEFCRYGAAEPHTIAAFLGGAAAQEVIKIITKQFVIFNNTYIYSGMSQTS -------------------------------------------------------------- >13373_13373_6_CBFB-NAE1_CBFB_chr16_67070658_ENST00000412916_NAE1_chr16_66857503_ENST00000379463_length(amino acids)=545AA_BP=93 MPRVVPDQRSKFENEEFFRKLSRECEIKYTGFRDRPHEERQARFQNACRDGRSEIAFVATGTNLSLQFFPASWQGEQRQTPSREYVDLER EAGKNRAEAAMEFLQELNSDVSGSFVEESPENLLDNDPSFFCRFTVVVATQLPESTSLRLADVLWNSQIPLLICRTYGLVGYMRIIIKEH PVIESHPDNALEDLRLDKPFPELREHFQSYDLDHMEKKDHSHTPWIVIIAKYLAQWYSETNGRIPKTYKEKEDFRDLIRQGILKNENGAP EDEENFEEAIKNVNTALNTTQIPSSIEDIFNDDRCINITKQTPSFWILARALKEFVAKEGQGNLPVRGTIPDMIADSGKYIKLQNVYREK AKKDAAAVGNHVAKLLQSIGQAPESISEKELKLLCSNSAFLRVVRCRSLAEEYGLDTINKDEIISSMDNPDNEIVLYLMLRAVDRFHKQQ GRYPGVSNYQVEEDIGKLKSCLTGFLQEYGLSVMVKDDYVHEFCRYGAAEPHTIAAFLGGAAAQEVIKIITKQFVIFNNTYIYSGMSQTS -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr16:67070658/chr16:66857503) - 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 | NAE1 |
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: Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Necessary for cell cycle progression through the S-M checkpoint. Overexpression of NAE1 causes apoptosis through deregulation of NEDD8 conjugation. {ECO:0000269|PubMed:10207026, ECO:0000269|PubMed:10722740, ECO:0000269|PubMed:12740388}. |
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- 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 |
- 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 Protein Structures |
![]() * Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
Fusion protein PDB link (fusion AA seq ID in FusionPDB) | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | AA seq | Len(AA seq) |
PDB file >>>1164_CBFB_67070658_NAE1_66857503_1164_CBFB_67070658_NAE1_66857503_ranked_0.pdb | CBFB | 67070658 | 67070658 | ENST00000379463 | NAE1 | chr16 | 66857503 | - | MPRVVPDQRSKFENEEFFRKLSRECEIKYTGFRDRPHEERQARFQNACRDGRSEIAFVATGTNLSLQFFPASWQGEQRQTPSREYVDLER EAGKNRAEAAMEFLQELNSDVSGSFVEESPENLLDNDPSFFCRFTVVVATQLPESTSLRLADVLWNSQIPLLICRTYGLVGYMRIIIKEH PVIESHPDNALEDLRLDKPFPELREHFQSYDLDHMEKKDHSHTPWIVIIAKYLAQWYSETNGRIPKTYKEKEDFRDLIRQGILKNENGAP EDEENFEEAIKNVNTALNTTQIPSSIEDIFNDDRCINITKQTPSFWILARALKEFVAKEGQGNLPVRGTIPDMIADSGKYIKLQNVYREK AKKDAAAVGNHVAKLLQSIGQAPESISEKELKLLCSNSAFLRVVRCRSLAEEYGLDTINKDEIISSMDNPDNEIVLYLMLRAVDRFHKQQ GRYPGVSNYQVEEDIGKLKSCLTGFLQEYGLSVMVKDDYVHEFCRYGAAEPHTIAAFLGGAAAQEVIKIITKQFVIFNNTYIYSGMSQTS | 545 |
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pLDDT score distribution |
![]() * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
CBFB_pLDDT.png![]() |
NAE1_pLDDT.png![]() |
![]() * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
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Ramachandran Plot of Fusion Protein Structure |
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Fusion AA seq ID in FusionPDB and their Ramachandran plots |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
CBFB | CHGB, RUNX1, MYOD1, RUNX3, COPRS, KMT2A, ELAVL1, CUL5, vif, nef, APOBEC3G, MYC, RAB2A, TCEB1, RNF7, TCEB2, RUNX2, ARL6IP6, SERPINB5, SLC25A32, TAS2R41, CRIP1, GALK1, PPIA, SOD1, NFATC1, GCHFR, G3BP1, CTNNB1, CBFA2T3, NKX2-1, IKZF3, IKZF1, AMBRA1, TRIM28, BAG3, BCL11B, CBFB, EMD, ETS1, HAX1, HLTF, HNRNPM, HSPBP1, PML, RBM14, TCF12, TCF7, TSC2, TUBA4A, ZBTB1, AKAP8L, ANXA1, HDAC3, IKZF2, SEC16A, TAF4, PDCD6IP, ARIH1, ARIH2, CUL2, DCAF11, NCOR1, NEDD8, RBX1, YTHDF2, PLEKHA4, CHRM5, BRD4, DDX58, ATG7, FBXW12, NIP7, HSPA1A, FCN3, FAM109A, LHFPL4, FOXF2, LRRC32, DUOXA2, VPS28, SMPDL3B, RP2, AQP12B, BTF3, |
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Gene | STRING network |
CBFB | ![]() |
NAE1 |
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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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Related Drugs to CBFB-NAE1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to CBFB-NAE1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (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 |