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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:NLRP1-FAM193B (FusionGDB2 ID:59385) |
Fusion Gene Summary for NLRP1-FAM193B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NLRP1-FAM193B | Fusion gene ID: 59385 | Hgene | Tgene | Gene symbol | NLRP1 | FAM193B | Gene ID | 22861 | 54540 |
| Gene name | NLR family pyrin domain containing 1 | family with sequence similarity 193 member B | |
| Synonyms | AIADK|CARD7|CIDED|CLR17.1|DEFCAP|DEFCAP-L/S|JRRP|MSPC|NAC|NALP1|PP1044|SLEV1|VAMAS1 | IRIZIO | |
| Cytomap | 17p13.2 | 5q35.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | NACHT, LRR and PYD domains-containing protein 1NACHT, LRR and PYD containing protein 1NACHT, leucine rich repeat and PYD (pyrin domain) containing 1NACHT, leucine rich repeat and PYD containing 1caspase recruitment domain protein 7caspase recruitment | protein FAM193B | |
| Modification date | 20200322 | 20200313 | |
| UniProtAcc | Q9C000 | Q96PV7 | |
| Ensembl transtripts involved in fusion gene | ENST00000262467, ENST00000269280, ENST00000345221, ENST00000354411, ENST00000572272, ENST00000577119, ENST00000571307, | ENST00000329540, ENST00000443375, ENST00000508298, ENST00000514747, | |
| Fusion gene scores | * DoF score | 6 X 5 X 3=90 | 9 X 6 X 5=270 |
| # samples | 7 | 11 | |
| ** MAII score | log2(7/90*10)=-0.362570079384708 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/270*10)=-1.29545588352617 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NLRP1 [Title/Abstract] AND FAM193B [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | NLRP1(5485179)-FAM193B(176966148), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | NLRP1-FAM193B seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. NLRP1-FAM193B seems lost the major protein functional domain in Tgene partner, which is a essential gene 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 | NLRP1 | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 15212762 |
| Hgene | NLRP1 | GO:0051402 | neuron apoptotic process | 15212762 |
| Fusion gene breakpoints across NLRP1 (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 FAM193B (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 | STAD | TCGA-HU-A4HB-01A | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
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Fusion Gene ORF analysis for NLRP1-FAM193B |
| 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 | ENST00000262467 | ENST00000329540 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-5UTR | ENST00000262467 | ENST00000443375 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-5UTR | ENST00000269280 | ENST00000329540 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-5UTR | ENST00000269280 | ENST00000443375 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-5UTR | ENST00000345221 | ENST00000329540 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-5UTR | ENST00000345221 | ENST00000443375 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-5UTR | ENST00000354411 | ENST00000329540 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-5UTR | ENST00000354411 | ENST00000443375 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-5UTR | ENST00000572272 | ENST00000329540 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-5UTR | ENST00000572272 | ENST00000443375 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-5UTR | ENST00000577119 | ENST00000329540 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-5UTR | ENST00000577119 | ENST00000443375 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-intron | ENST00000262467 | ENST00000508298 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-intron | ENST00000269280 | ENST00000508298 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-intron | ENST00000345221 | ENST00000508298 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-intron | ENST00000354411 | ENST00000508298 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-intron | ENST00000572272 | ENST00000508298 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5CDS-intron | ENST00000577119 | ENST00000508298 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5UTR-3CDS | ENST00000571307 | ENST00000514747 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5UTR-5UTR | ENST00000571307 | ENST00000329540 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5UTR-5UTR | ENST00000571307 | ENST00000443375 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 5UTR-intron | ENST00000571307 | ENST00000508298 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| Frame-shift | ENST00000262467 | ENST00000514747 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| Frame-shift | ENST00000269280 | ENST00000514747 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| Frame-shift | ENST00000345221 | ENST00000514747 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| Frame-shift | ENST00000354411 | ENST00000514747 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| Frame-shift | ENST00000572272 | ENST00000514747 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| Frame-shift | ENST00000577119 | ENST00000514747 | NLRP1 | chr17 | 5485179 | - | FAM193B | chr5 | 176966148 | - |
| 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 NLRP1-FAM193B |
| 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 NLRP1-FAM193B |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:5485179/:176966148) - 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 |
| NLRP1 | FAM193B |
| FUNCTION: As the sensor component of the NLRP1 inflammasome, plays a crucial role in innate immunity and inflammation. Inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens and other damage-associated signals and play critical roles in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP1, CASP1, and possibly PYCARD. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu (PubMed:33093214). Activation of NLRP1 inflammasome is also required for HMGB1 secretion. The active cytokines and HMGB1 stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death (PubMed:22665479, PubMed:17418785). May be activated by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, in a NOD2-dependent manner (PubMed:18511561). Binds ATP and shows ATPase activity (PubMed:11113115, PubMed:15212762, PubMed:33243852). Plays an important role in antiviral immunity and inflammation in the human airway epithelium. Upon infection by human rhinoviruses 14 and 16 (HRV-14 and HRV-16), NLRP1 is cleaved and activated which triggers NLRP1-dependent inflammasome activation and IL18 secretion (PubMed:33093214). Contrary to its mouse ortholog, not activated by Bacillus anthracis lethal toxin (PubMed:19651869). Acts as a direct sensor for long dsRNA and thus RNA virus infection (PubMed:33243852). Positive-strand RNA viruses such as Semliki forest virus and long dsRNA activate the NLRP1 inflammasome, triggering IL1B release in a NLRP1-dependent fashion (PubMed:33243852). {ECO:0000250|UniProtKB:A1Z198, ECO:0000269|PubMed:11113115, ECO:0000269|PubMed:15212762, ECO:0000269|PubMed:17349957, ECO:0000269|PubMed:17418785, ECO:0000269|PubMed:18511561, ECO:0000269|PubMed:19651869, ECO:0000269|PubMed:22665479, ECO:0000269|PubMed:27662089, ECO:0000269|PubMed:31484767, ECO:0000269|PubMed:33093214, ECO:0000269|PubMed:33243852}.; FUNCTION: [Isoform 2]: It is unclear whether is involved in inflammasome formation. It is not cleaved within the FIIND domain, does not assemble into specks, nor promote IL1B release (PubMed:22665479). However, in an vitro cell-free system, it has been shown to be activated by MDP (PubMed:17349957). {ECO:0000269|PubMed:17349957, ECO:0000269|PubMed:22665479}. |
| 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 NLRP1-FAM193B |
| 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 NLRP1-FAM193B |
| 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 NLRP1-FAM193B |
| 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 NLRP1-FAM193B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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