|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 17718 |
FusionGeneSummary for IRF1_FOPNL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IRF1_FOPNL | Fusion gene ID: 17718 | Hgene | Tgene | Gene symbol | IRF1 | FOPNL | Gene ID | 3659 | 123811 |
| Gene name | interferon regulatory factor 1 | FGFR1OP N-terminal like | |
| Synonyms | IRF-1|MAR | C16orf63|FOR20|PHSECRG2 | |
| Cytomap | 5q31.1 | 16p13.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | interferon regulatory factor 1interferon regulatory factor 1 isoform +I9interferon regulatory factor 1 isoform d78interferon regulatory factor 1 isoform d9,10+interferon regulatory factor 1 isoform delta4interferon regulatory factor 1 isoform delta7 | lisH domain-containing protein FOPNLFOP-related protein of 20 kDalisH domain-containing protein C16orf63pluripotent embryonic stem cell-related protein | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | P10914 | Q96NB1 | |
| Ensembl transtripts involved in fusion gene | ENST00000245414, ENST00000405885, ENST00000463784, | ENST00000255759, ENST00000573968, ENST00000573396, ENST00000575744, ENST00000575073, ENST00000573429, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
| # samples | 1 | 1 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: IRF1 [Title/Abstract] AND FOPNL [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | IRF1 | GO:0006915 | apoptotic process | 19851330 |
| Hgene | IRF1 | GO:0007050 | cell cycle arrest | 22200613 |
| Hgene | IRF1 | GO:0035458 | cellular response to interferon-beta | 18035482 |
| Hgene | IRF1 | GO:0045893 | positive regulation of transcription, DNA-templated | 22200613 |
| Hgene | IRF1 | GO:0051607 | defense response to virus | 21389130|21478870 |
| 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 |
| TCGA | LD | STAD | TCGA-BR-6709-01A | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| * 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 |
| Frame-shift | ENST00000245414 | ENST00000255759 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| 5CDS-intron | ENST00000245414 | ENST00000573968 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| 5CDS-intron | ENST00000245414 | ENST00000573396 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| 5CDS-intron | ENST00000245414 | ENST00000575744 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| 5CDS-intron | ENST00000245414 | ENST00000575073 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| 5CDS-intron | ENST00000245414 | ENST00000573429 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| Frame-shift | ENST00000405885 | ENST00000255759 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| 5CDS-intron | ENST00000405885 | ENST00000573968 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| 5CDS-intron | ENST00000405885 | ENST00000573396 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| 5CDS-intron | ENST00000405885 | ENST00000575744 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| 5CDS-intron | ENST00000405885 | ENST00000575073 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| 5CDS-intron | ENST00000405885 | ENST00000573429 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| intron-3CDS | ENST00000463784 | ENST00000255759 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| intron-intron | ENST00000463784 | ENST00000573968 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| intron-intron | ENST00000463784 | ENST00000573396 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| intron-intron | ENST00000463784 | ENST00000575744 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| intron-intron | ENST00000463784 | ENST00000575073 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
| intron-intron | ENST00000463784 | ENST00000573429 | IRF1 | chr5 | 131822249 | - | FOPNL | chr16 | 15973745 | - |
Top |
FusionProtFeatures for IRF1_FOPNL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IRF1 | FOPNL |
| Transcriptional regulator which displays a remarkablefunctional diversity in the regulation of cellular responses.These include the regulation of IFN and IFN-inducible genes, hostresponse to viral and bacterial infections, regulation of manygenes expressed during hematopoiesis, inflammation, immuneresponses and cell proliferation and differentiation, regulationof the cell cycle and induction of growth arrest and programmedcell death following DNA damage. Stimulates both innate andacquired immune responses through the activation of specifictarget genes and can act as a transcriptional activator andrepressor regulating target genes by binding to an interferon-stimulated response element (ISRE) in their promoters. Its targetgenes for transcriptional activation activity include: genesinvolved in anti-viral response, such as IFN-alpha/beta,DDX58/RIG-I, TNFSF10/TRAIL, OAS1/2, PIAS1/GBP, EIF2AK2/PKR andRSAD2/viperin; antibacterial response, such as NOS2/INOS; anti-proliferative response, such as p53/TP53, LOX and CDKN1A;apoptosis, such as BBC3/PUMA, CASP1, CASP7 and CASP8; immuneresponse, such as IL7, IL12A/B and IL15, PTGS2/COX2 and CYBB; DNAdamage responses and DNA repair, such as POLQ/POLH; MHC class Iexpression, such as TAP1, PSMB9/LMP2, PSME1/PA28A, PSME2/PA28B andB2M and MHC class II expression, such as CIITA. Represses genesinvolved in anti-proliferative response, such as BIRC5/survivin,CCNB1, CCNE1, CDK1, CDK2 and CDK4 and in immune response, such asFOXP3, IL4, ANXA2 and TLR4. Stimulates p53/TP53-dependenttranscription through enhanced recruitment of EP300 leading toincreased acetylation of p53/TP53. Plays an important role inimmune response directly affecting NK maturation and activity,macrophage production of IL12, Th1 development and maturation ofCD8+ T-cells. Also implicated in the differentiation andmaturation of dendritic cells and in the suppression of regulatoryT (Treg) cells development. Acts as a tumor suppressor and plays arole not only in antagonism of tumor cell growth but also instimulating an immune response against tumor cells.{ECO:0000269|PubMed:15226432, ECO:0000269|PubMed:15509808,ECO:0000269|PubMed:17516545, ECO:0000269|PubMed:17942705,ECO:0000269|PubMed:18084608, ECO:0000269|PubMed:18497060,ECO:0000269|PubMed:18641303, ECO:0000269|PubMed:19404407,ECO:0000269|PubMed:19851330, ECO:0000269|PubMed:21389130,ECO:0000269|PubMed:22200613, ECO:0000269|PubMed:22367195}. | Involved in the biogenesis of cilia (PubMed:20551181).Required for the recruitement of PLK1 to centrosomes and S phaseprogression (PubMed:24018379). {ECO:0000269|PubMed:20551181,ECO:0000269|PubMed:24018379}. |
| 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 |
Top |
FusionGeneSequence for IRF1_FOPNL |
| 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). |
Top |
FusionGenePPI for IRF1_FOPNL |
| 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 |
| IRF1 | KAT2B, KAT2A, STAT1, IRF8, HMGA1, IRF9, EP300, SMARCA4, CREBBP, STUB1, TRAF3, HCFC1, KEAP1, SEC63, TRMT2A, NPM1, YBX1, TRIM28, SP2, SPI1, MDM2, SET, HSP90AA1, HSPA1A, CBL, HIST1H3A, CDKN1B, QARS, BIRC3, PRDM1, IRF2 | FOPNL | ELAVL1, OFD1, PCM1, KIAA0753, CEP162, CEP290, CEP128, CEP135, CEP63, CSNK1E, DYNLL1, FGFR1OP, SLAIN2, CCDC14 |
| - 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 |
Top |
RelatedDrugs for IRF1_FOPNL |
| 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 |
Top |
RelatedDiseases for IRF1_FOPNL |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | IRF1 | C0699791 | Stomach Carcinoma | 2 | HPO;UNIPROT |
| Hgene | IRF1 | C0038454 | Cerebrovascular accident | 1 | CTD_human |
| Hgene | IRF1 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|