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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:MUC5AC-IRF8 (FusionGDB2 ID:55710) |
Fusion Gene Summary for MUC5AC-IRF8 |
Fusion gene summary |
Fusion gene information | Fusion gene name: MUC5AC-IRF8 | Fusion gene ID: 55710 | Hgene | Tgene | Gene symbol | MUC5AC | IRF8 | Gene ID | 4586 | 3394 |
Gene name | mucin 5AC, oligomeric mucus/gel-forming | interferon regulatory factor 8 | |
Synonyms | MUC5|TBM|leB|mucin | H-ICSBP|ICSBP|ICSBP1|IMD32A|IMD32B|IRF-8 | |
Cytomap | 11p15.5 | 16q24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | mucin-5ACgastric mucinlewis B blood group antigenmajor airway glycoproteinmucin 5, subtypes A and C, tracheobronchial/gastricmucin 5AC, oligomeric mucus/gel-forming pseudogenemucin-5 subtype AC, tracheobronchialtracheobronchial mucin | interferon regulatory factor 8interferon consensus sequence binding protein 1 | |
Modification date | 20200322 | 20200313 | |
UniProtAcc | P98088 | Q02556 | |
Ensembl transtripts involved in fusion gene | ENST00000356191, ENST00000358378, | ENST00000268638, ENST00000563180, ENST00000562492, | |
Fusion gene scores | * DoF score | 5 X 6 X 4=120 | 4 X 3 X 4=48 |
# samples | 5 | 4 | |
** MAII score | log2(5/120*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: MUC5AC [Title/Abstract] AND IRF8 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | MUC5AC(26151256)-IRF8(85942596), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 | MUC5AC | GO:0048015 | phosphatidylinositol-mediated signaling | 25591774 |
Tgene | IRF8 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 1460054|25122610 |
Tgene | IRF8 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 25122610 |
Tgene | IRF8 | GO:0071346 | cellular response to interferon-gamma | 25122610 |
Fusion gene breakpoints across MUC5AC (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 IRF8 (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 | ESCA | TCGA-L5-A8NI-01A | MUC5AC | chr11 | 26151256 | + | IRF8 | chr16 | 85942596 | + |
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Fusion Gene ORF analysis for MUC5AC-IRF8 |
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 |
intron-3CDS | ENST00000356191 | ENST00000268638 | MUC5AC | chr11 | 26151256 | + | IRF8 | chr16 | 85942596 | + |
intron-3CDS | ENST00000356191 | ENST00000563180 | MUC5AC | chr11 | 26151256 | + | IRF8 | chr16 | 85942596 | + |
intron-intron | ENST00000356191 | ENST00000562492 | MUC5AC | chr11 | 26151256 | + | IRF8 | chr16 | 85942596 | + |
intron-3CDS | ENST00000358378 | ENST00000268638 | MUC5AC | chr11 | 26151256 | + | IRF8 | chr16 | 85942596 | + |
intron-3CDS | ENST00000358378 | ENST00000563180 | MUC5AC | chr11 | 26151256 | + | IRF8 | chr16 | 85942596 | + |
intron-intron | ENST00000358378 | ENST00000562492 | MUC5AC | chr11 | 26151256 | + | IRF8 | chr16 | 85942596 | + |
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 MUC5AC-IRF8 |
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 MUC5AC-IRF8 |
Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MUC5AC | IRF8 |
FUNCTION: Gel-forming glycoprotein of gastric and respiratory tract epithelia that protects the mucosa from infection and chemical damage by binding to inhaled microorganisms and particles that are subsequently removed by the mucociliary system (PubMed:14535999, PubMed:14718370). Interacts with H.pylori in the gastric epithelium, Barrett's esophagus as well as in gastric metaplasia of the duodenum (GMD) (PubMed:14535999). {ECO:0000269|PubMed:14535999, ECO:0000303|PubMed:14535999, ECO:0000303|PubMed:14718370}. | FUNCTION: Transcription factor that specifically binds to the upstream regulatory region of type I interferon (IFN) and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)) (PubMed:25122610). Can both act as a transcriptional activator or repressor (By similarity). Plays a negative regulatory role in cells of the immune system (By similarity). Involved in CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF8 and activation of genes (By similarity). Required for the development of plasmacytoid dendritic cells (pDCs), which produce most of the type I IFN in response to viral infection (By similarity). Positively regulates macroautophagy in dendritic cells (PubMed:29434592). {ECO:0000250|UniProtKB:P23611, ECO:0000269|PubMed:25122610, ECO:0000269|PubMed:29434592}. |
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 MUC5AC-IRF8 |
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 MUC5AC-IRF8 |
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 MUC5AC-IRF8 |
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 MUC5AC-IRF8 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | IRF8 | C4016741 | IMMUNODEFICIENCY 32B | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | IRF8 | C3808589 | IMMUNODEFICIENCY 32A | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | IRF8 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
Tgene | IRF8 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | IRF8 | C0026769 | Multiple Sclerosis | 1 | CTD_human |
Tgene | IRF8 | C0751324 | Multiple Sclerosis, Acute Fulminating | 1 | CTD_human |