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Fusion gene ID: 17739 |
FusionGeneSummary for IRF8_MRPL14 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IRF8_MRPL14 | Fusion gene ID: 17739 | Hgene | Tgene | Gene symbol | IRF8 | MRPL14 | Gene ID | 3394 | 64928 |
| Gene name | interferon regulatory factor 8 | mitochondrial ribosomal protein L14 | |
| Synonyms | H-ICSBP|ICSBP|ICSBP1|IMD32A|IMD32B|IRF-8 | L14mt|L32mt|MRP-L14|MRP-L32|MRPL32|RMPL32|RPML32 | |
| Cytomap | 16q24.1 | 6p21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | interferon regulatory factor 8interferon consensus sequence binding protein 1 | 39S ribosomal protein L14, mitochondrial39S ribosomal protein L32, mitochondrialmitochondrial large ribosomal subunit protein uL14m | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q02556 | Q6P1L8 | |
| Ensembl transtripts involved in fusion gene | ENST00000268638, ENST00000563180, ENST00000562492, | ENST00000372014, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 11 X 6 X 7=462 |
| # samples | 2 | 13 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(13/462*10)=-1.8293812283876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: IRF8 [Title/Abstract] AND MRPL14 [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) |
| 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 | IRF8 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 1460054|25122610 |
| Hgene | IRF8 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 25122610 |
| Hgene | IRF8 | GO:0071346 | cellular response to interferon-gamma | 25122610 |
| Fusion gene information from three resources (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 | CA392423 | IRF8 | chr16 | 85940745 | + | MRPL14 | chr6 | 44086998 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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-intron | ENST00000268638 | ENST00000372014 | IRF8 | chr16 | 85940745 | + | MRPL14 | chr6 | 44086998 | - |
| intron-intron | ENST00000563180 | ENST00000372014 | IRF8 | chr16 | 85940745 | + | MRPL14 | chr6 | 44086998 | - |
| intron-intron | ENST00000562492 | ENST00000372014 | IRF8 | chr16 | 85940745 | + | MRPL14 | chr6 | 44086998 | - |
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FusionProtFeatures for IRF8_MRPL14 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IRF8 | MRPL14 |
| Plays a role as a transcriptional activator or repressor(PubMed:25122610). Specifically binds to the upstream regulatoryregion of type I IFN and IFN-inducible MHC class I genes (theinterferon consensus sequence (ICS)). Plays a negative regulatoryrole in cells of the immune system. Involved in CD8(+) dendriticcell differentiation by forming a complex with the BATF-JUNBheterodimer in immune cells, leading to recognition of AICEsequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatoryelement, followed by cooperative binding of BATF and IRF8 andactivation of genes (By similarity).{ECO:0000250|UniProtKB:P23611, ECO:0000269|PubMed:25122610}. | Forms part of 2 intersubunit bridges in the assembledribosome. Upon binding to MALSU1 intersubunit bridge formation isblocked, preventing ribosome formation and repressing translation(Probable). {ECO:0000305|PubMed:22829778}. |
| 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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FusionGeneSequence for IRF8_MRPL14 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (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 IRF8_MRPL14 |
| 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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RelatedDrugs for IRF8_MRPL14 |
| Drugs targeting genes involved in this fusion gene. (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 IRF8_MRPL14 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | IRF8 | C4016741 | IMMUNODEFICIENCY 32B | 2 | UNIPROT |
| Hgene | IRF8 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Hgene | IRF8 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | IRF8 | C0026769 | Multiple Sclerosis | 1 | CTD_human |
| Hgene | IRF8 | C3808589 | IMMUNODEFICIENCY 32A | 1 | ORPHANET;UNIPROT |
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