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Fusion gene ID: 17739 |
FusionGeneSummary for IRF8_MRPL14 |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for IRF8_MRPL14 |
![]() (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 |
![]() (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 |