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Fusion gene ID: 37629 |
FusionGeneSummary for TCOF1_DSP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TCOF1_DSP | Fusion gene ID: 37629 | Hgene | Tgene | Gene symbol | TCOF1 | DSP | Gene ID | 6949 | 1832 |
| Gene name | treacle ribosome biogenesis factor 1 | desmoplakin | |
| Synonyms | MFD1|TCS|TCS1|treacle | DCWHKTA|DP | |
| Cytomap | 5q32-q33.1 | 6p24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | treacle proteinTreacher Collins syndrome proteinTreacher Collins-Franceschetti syndrome 1nucleolar trafficking phosphoprotein | desmoplakin250/210 kDa paraneoplastic pemphigus antigen | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q13428 | P15924 | |
| Ensembl transtripts involved in fusion gene | ENST00000451292, ENST00000377797, ENST00000445265, ENST00000323668, ENST00000439160, ENST00000394269, ENST00000504761, ENST00000513346, ENST00000506063, | ENST00000379802, ENST00000418664, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 17 X 15 X 8=2040 |
| # samples | 4 | 22 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(22/2040*10)=-3.2129937233342 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TCOF1 [Title/Abstract] AND DSP [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 |
| Tgene | DSP | GO:0018149 | peptide cross-linking | 10908733 |
| Tgene | DSP | GO:0030216 | keratinocyte differentiation | 10908733 |
| 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 | BE165642 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| * 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 | ENST00000451292 | ENST00000379802 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| 5CDS-intron | ENST00000451292 | ENST00000418664 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| Frame-shift | ENST00000377797 | ENST00000379802 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| 5CDS-intron | ENST00000377797 | ENST00000418664 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| Frame-shift | ENST00000445265 | ENST00000379802 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| 5CDS-intron | ENST00000445265 | ENST00000418664 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| Frame-shift | ENST00000323668 | ENST00000379802 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| 5CDS-intron | ENST00000323668 | ENST00000418664 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| Frame-shift | ENST00000439160 | ENST00000379802 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| 5CDS-intron | ENST00000439160 | ENST00000418664 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| intron-3CDS | ENST00000394269 | ENST00000379802 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| intron-intron | ENST00000394269 | ENST00000418664 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| Frame-shift | ENST00000504761 | ENST00000379802 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| 5CDS-intron | ENST00000504761 | ENST00000418664 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| Frame-shift | ENST00000513346 | ENST00000379802 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| 5CDS-intron | ENST00000513346 | ENST00000418664 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| intron-3CDS | ENST00000506063 | ENST00000379802 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
| intron-intron | ENST00000506063 | ENST00000418664 | TCOF1 | chr5 | 149776157 | + | DSP | chr6 | 7581583 | + |
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FusionProtFeatures for TCOF1_DSP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TCOF1 | DSP |
| Nucleolar protein that acts as a regulator of RNApolymerase I by connecting RNA polymerase I with enzymesresponsible for ribosomal processing and modification(PubMed:12777385, PubMed:26399832). Required for neural crestspecification: following monoubiquitination by the BCR(KBTBD8)complex, associates with NOLC1 and acts as a platform to connectRNA polymerase I with enzymes responsible for ribosomal processingand modification, leading to remodel the translational program ofdifferentiating cells in favor of neural crest specification(PubMed:26399832). {ECO:0000269|PubMed:12777385,ECO:0000269|PubMed:26399832}. | Major high molecular weight protein of desmosomes.Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and inthe anchoring of intermediate filaments to the desmosomes. |
| 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 TCOF1_DSP |
| 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 TCOF1_DSP |
| 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 TCOF1_DSP |
| 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 |
| Tgene | DSP | P15924 | DB01593 | Zinc | Desmoplakin | small molecule | approved|investigational |
| Tgene | DSP | P15924 | DB11638 | Artenimol | Desmoplakin | small molecule | approved|investigational |
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RelatedDiseases for TCOF1_DSP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TCOF1 | C0242387 | Mandibulofacial Dysostosis | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | TCOF1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | DSP | C1843896 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 | 3 | CTD_human;UNIPROT |
| Tgene | DSP | C4014393 | CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS | 2 | UNIPROT |
| Tgene | DSP | C0085298 | Sudden Cardiac Death | 1 | CTD_human;HPO |
| Tgene | DSP | C1800706 | Idiopathic Pulmonary Fibrosis | 1 | CTD_human;ORPHANET |
| Tgene | DSP | C1843292 | Skin Fragility-Woolly Hair Syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | DSP | C1854063 | Cardiomyopathy dilated with Woolly hair and keratoderma | 1 | CTD_human;ORPHANET |
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