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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:CREBBP-NLRC3 (FusionGDB2 ID:19376) |
Fusion Gene Summary for CREBBP-NLRC3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CREBBP-NLRC3 | Fusion gene ID: 19376 | Hgene | Tgene | Gene symbol | CREBBP | NLRC3 | Gene ID | 1387 | 197358 |
| Gene name | CREB binding protein | NLR family CARD domain containing 3 | |
| Synonyms | CBP|KAT3A|MKHK1|RSTS|RSTS1 | CLR16.2|NOD3 | |
| Cytomap | 16p13.3 | 16p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | CREB-binding proteinhistone lysine acetyltransferase CREBBPprotein-lysine acetyltransferase CREBBP | NLR family CARD domain-containing protein 3CARD15-like proteinNACHT, LRR and CARD domains-containing protein 3NOD-like receptor C3caterpiller protein 16.2nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3 | |
| Modification date | 20200329 | 20200313 | |
| UniProtAcc | Q92793 | Q7RTR2 | |
| Ensembl transtripts involved in fusion gene | ENST00000262367, ENST00000382070, | ENST00000419350, ENST00000448023, ENST00000603507, ENST00000324659, ENST00000359128, ENST00000301749, | |
| Fusion gene scores | * DoF score | 43 X 38 X 17=27778 | 3 X 5 X 4=60 |
| # samples | 61 | 5 | |
| ** MAII score | log2(61/27778*10)=-5.50898967694577 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CREBBP [Title/Abstract] AND NLRC3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CREBBP(3817721)-NLRC3(3598753), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | CREBBP-NLRC3 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. CREBBP-NLRC3 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. CREBBP-NLRC3 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. CREBBP-NLRC3 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. CREBBP-NLRC3 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. CREBBP-NLRC3 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. | ||
| * 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 |
| Hgene | CREBBP | GO:0000122 | negative regulation of transcription by RNA polymerase II | 21539536 |
| Hgene | CREBBP | GO:0006355 | regulation of transcription, DNA-templated | 12169688 |
| Hgene | CREBBP | GO:0006473 | protein acetylation | 15273251|24207024|24939902|28790157|30540930 |
| Hgene | CREBBP | GO:0016573 | histone acetylation | 11742995 |
| Hgene | CREBBP | GO:0018076 | N-terminal peptidyl-lysine acetylation | 12435739 |
| Hgene | CREBBP | GO:0034644 | cellular response to UV | 24939902 |
| Hgene | CREBBP | GO:0045893 | positive regulation of transcription, DNA-templated | 11742995 |
| Hgene | CREBBP | GO:1990258 | histone glutamine methylation | 30540930 |
| Tgene | NLRC3 | GO:0007249 | I-kappaB kinase/NF-kappaB signaling | 15705585 |
| Tgene | NLRC3 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 15705585 |
| Tgene | NLRC3 | GO:0032715 | negative regulation of interleukin-6 production | 22863753 |
| Tgene | NLRC3 | GO:0032720 | negative regulation of tumor necrosis factor production | 22863753 |
| Tgene | NLRC3 | GO:0050728 | negative regulation of inflammatory response | 25277106 |
| Tgene | NLRC3 | GO:1900226 | negative regulation of NLRP3 inflammasome complex assembly | 25277106 |
| Tgene | NLRC3 | GO:1901223 | negative regulation of NIK/NF-kappaB signaling | 25277106 |
| Fusion gene breakpoints across CREBBP (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across NLRC3 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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 | BLCA | TCGA-4Z-AA82-01A | CREBBP | chr16 | 3794895 | - | NLRC3 | chr16 | 3592274 | - |
| ChimerDB4 | LIHC | TCGA-DD-A11C-01A | CREBBP | chr16 | 3817721 | - | NLRC3 | chr16 | 3598753 | - |
| ChiTaRS5.0 | N/A | AJ315157 | CREBBP | chr16 | 3901965 | - | NLRC3 | chr16 | 3612566 | - |
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Fusion Gene ORF analysis for CREBBP-NLRC3 |
| 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-5UTR | ENST00000262367 | ENST00000419350 | CREBBP | chr16 | 3794895 | - | NLRC3 | chr16 | 3592274 | - |
| 5CDS-5UTR | ENST00000262367 | ENST00000419350 | CREBBP | chr16 | 3817721 | - | NLRC3 | chr16 | 3598753 | - |
| 5CDS-5UTR | ENST00000262367 | ENST00000448023 | CREBBP | chr16 | 3794895 | - | NLRC3 | chr16 | 3592274 | - |
| 5CDS-5UTR | ENST00000262367 | ENST00000448023 | CREBBP | chr16 | 3817721 | - | NLRC3 | chr16 | 3598753 | - |
| 5CDS-5UTR | ENST00000262367 | ENST00000603507 | CREBBP | chr16 | 3794895 | - | NLRC3 | chr16 | 3592274 | - |
| 5CDS-5UTR | ENST00000262367 | ENST00000603507 | CREBBP | chr16 | 3817721 | - | NLRC3 | chr16 | 3598753 | - |
| 5CDS-5UTR | ENST00000382070 | ENST00000419350 | CREBBP | chr16 | 3794895 | - | NLRC3 | chr16 | 3592274 | - |
| 5CDS-5UTR | ENST00000382070 | ENST00000419350 | CREBBP | chr16 | 3817721 | - | NLRC3 | chr16 | 3598753 | - |
| 5CDS-5UTR | ENST00000382070 | ENST00000448023 | CREBBP | chr16 | 3794895 | - | NLRC3 | chr16 | 3592274 | - |
| 5CDS-5UTR | ENST00000382070 | ENST00000448023 | CREBBP | chr16 | 3817721 | - | NLRC3 | chr16 | 3598753 | - |
| 5CDS-5UTR | ENST00000382070 | ENST00000603507 | CREBBP | chr16 | 3794895 | - | NLRC3 | chr16 | 3592274 | - |
| 5CDS-5UTR | ENST00000382070 | ENST00000603507 | CREBBP | chr16 | 3817721 | - | NLRC3 | chr16 | 3598753 | - |
| 5CDS-intron | ENST00000262367 | ENST00000324659 | CREBBP | chr16 | 3794895 | - | NLRC3 | chr16 | 3592274 | - |
| 5CDS-intron | ENST00000262367 | ENST00000324659 | CREBBP | chr16 | 3817721 | - | NLRC3 | chr16 | 3598753 | - |
| 5CDS-intron | ENST00000262367 | ENST00000359128 | CREBBP | chr16 | 3817721 | - | NLRC3 | chr16 | 3598753 | - |
| 5CDS-intron | ENST00000382070 | ENST00000324659 | CREBBP | chr16 | 3794895 | - | NLRC3 | chr16 | 3592274 | - |
| 5CDS-intron | ENST00000382070 | ENST00000324659 | CREBBP | chr16 | 3817721 | - | NLRC3 | chr16 | 3598753 | - |
| 5CDS-intron | ENST00000382070 | ENST00000359128 | CREBBP | chr16 | 3817721 | - | NLRC3 | chr16 | 3598753 | - |
| Frame-shift | ENST00000262367 | ENST00000301749 | CREBBP | chr16 | 3794895 | - | NLRC3 | chr16 | 3592274 | - |
| Frame-shift | ENST00000262367 | ENST00000301749 | CREBBP | chr16 | 3817721 | - | NLRC3 | chr16 | 3598753 | - |
| Frame-shift | ENST00000262367 | ENST00000359128 | CREBBP | chr16 | 3794895 | - | NLRC3 | chr16 | 3592274 | - |
| Frame-shift | ENST00000382070 | ENST00000301749 | CREBBP | chr16 | 3794895 | - | NLRC3 | chr16 | 3592274 | - |
| Frame-shift | ENST00000382070 | ENST00000301749 | CREBBP | chr16 | 3817721 | - | NLRC3 | chr16 | 3598753 | - |
| Frame-shift | ENST00000382070 | ENST00000359128 | CREBBP | chr16 | 3794895 | - | NLRC3 | chr16 | 3592274 | - |
| intron-intron | ENST00000262367 | ENST00000301749 | CREBBP | chr16 | 3901965 | - | NLRC3 | chr16 | 3612566 | - |
| intron-intron | ENST00000262367 | ENST00000324659 | CREBBP | chr16 | 3901965 | - | NLRC3 | chr16 | 3612566 | - |
| intron-intron | ENST00000262367 | ENST00000359128 | CREBBP | chr16 | 3901965 | - | NLRC3 | chr16 | 3612566 | - |
| intron-intron | ENST00000262367 | ENST00000419350 | CREBBP | chr16 | 3901965 | - | NLRC3 | chr16 | 3612566 | - |
| intron-intron | ENST00000262367 | ENST00000448023 | CREBBP | chr16 | 3901965 | - | NLRC3 | chr16 | 3612566 | - |
| intron-intron | ENST00000262367 | ENST00000603507 | CREBBP | chr16 | 3901965 | - | NLRC3 | chr16 | 3612566 | - |
| intron-intron | ENST00000382070 | ENST00000301749 | CREBBP | chr16 | 3901965 | - | NLRC3 | chr16 | 3612566 | - |
| intron-intron | ENST00000382070 | ENST00000324659 | CREBBP | chr16 | 3901965 | - | NLRC3 | chr16 | 3612566 | - |
| intron-intron | ENST00000382070 | ENST00000359128 | CREBBP | chr16 | 3901965 | - | NLRC3 | chr16 | 3612566 | - |
| intron-intron | ENST00000382070 | ENST00000419350 | CREBBP | chr16 | 3901965 | - | NLRC3 | chr16 | 3612566 | - |
| intron-intron | ENST00000382070 | ENST00000448023 | CREBBP | chr16 | 3901965 | - | NLRC3 | chr16 | 3612566 | - |
| intron-intron | ENST00000382070 | ENST00000603507 | CREBBP | chr16 | 3901965 | - | NLRC3 | chr16 | 3612566 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for CREBBP-NLRC3 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for CREBBP-NLRC3 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:3817721/:3598753) - 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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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CREBBP | NLRC3 |
| FUNCTION: Acetylates histones, giving a specific tag for transcriptional activation (PubMed:24616510). Also acetylates non-histone proteins, like DDX21, FBL, IRF2, MAFG, NCOA3, POLR1E/PAF53 and FOXO1 (PubMed:10490106, PubMed:11154691, PubMed:12738767, PubMed:12929931, PubMed:9707565, PubMed:24207024, PubMed:28790157, PubMed:30540930). Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers (PubMed:14645221). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Acetylates POLR1E/PAF53, leading to decreased association of RNA polymerase I with the rDNA promoter region and coding region (PubMed:24207024). Acetylates DDX21, thereby inhibiting DDX21 helicase activity (PubMed:28790157). Acetylates FBL, preventing methylation of 'Gln-105' of histone H2A (H2AQ104me) (PubMed:30540930). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493). {ECO:0000269|PubMed:10490106, ECO:0000269|PubMed:11154691, ECO:0000269|PubMed:12738767, ECO:0000269|PubMed:12929931, ECO:0000269|PubMed:14645221, ECO:0000269|PubMed:24207024, ECO:0000269|PubMed:24616510, ECO:0000269|PubMed:24939902, ECO:0000269|PubMed:25514493, ECO:0000269|PubMed:28790157, ECO:0000269|PubMed:30540930, ECO:0000269|PubMed:9707565}. | FUNCTION: Negative regulator of the innate immune response (PubMed:15705585, PubMed:22863753, PubMed:25277106). Attenuates signaling pathways activated by Toll-like receptors (TLRs) and the DNA sensor STING/TMEM173 in response to pathogen-associated molecular patterns, such as intracellular poly(dA:dT), but not poly(I:C), or in response to DNA virus infection, including that of Herpes simplex virus 1 (HSV1) (By similarity) (PubMed:22863753). May affect TLR4 signaling by acting at the level of TRAF6 ubiquitination, decreasing the activating 'Lys-63'-linked ubiquitination and leaving unchanged the degradative 'Lys-48'-linked ubiquitination (PubMed:22863753). Inhibits the PI3K-AKT-mTOR pathway possibly by directly interacting with the posphatidylinositol 3-kinase regulatory subunit p85 (PIK3R1/PIK3R2) and disrupting the association between PIK3R1/PIK3R2 and the catalytic subunit p110 (PIK3CA/PIK3CB/PIK3CD) and reducing PIK3R1/PIK3R2 activation. Via its regulation of the PI3K-AKT-mTOR pathway, controls cell proliferation, predominantly in intestinal epithelial cells (By similarity). May also affect NOD1- or NOD2-mediated NF-kappa-B activation (PubMed:25277106). Might also affect the inflammatory response by preventing NLRP3 inflammasome formation, CASP1 cleavage and IL1B maturation (PubMed:25277106). {ECO:0000250|UniProtKB:Q5DU56, ECO:0000269|PubMed:15705585, ECO:0000269|PubMed:22863753, ECO:0000269|PubMed:25277106}. |
| 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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Fusion Gene Sequence for CREBBP-NLRC3 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for CREBBP-NLRC3 |
| 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 |
| - 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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Related Drugs for CREBBP-NLRC3 |
| Drugs targeting genes involved in this fusion gene. (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 CREBBP-NLRC3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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