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Fusion Protein:DHX58-FAM134C |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: DHX58-FAM134C | FusionPDB ID: 22703 | FusionGDB2.0 ID: 22703 | Hgene | Tgene | Gene symbol | DHX58 | FAM134C | Gene ID | 79132 | 162427 |
| Gene name | DExH-box helicase 58 | reticulophagy regulator family member 3 | |
| Synonyms | D11LGP2|D11lgp2e|LGP2|RLR-3 | FAM134C | |
| Cytomap | 17q21.2 | 17q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | probable ATP-dependent RNA helicase DHX58DEXH (Asp-Glu-X-His) box polypeptide 58RIG-I-like receptor 3RIG-I-like receptor LGP2RLRRNA helicase LGP2ortholog of mouse D11lgp2probable ATP-dependent helicase LGP2protein D11Lgp2 homolog | reticulophagy regulator 3family with sequence similarity 134 member Cprotein FAM134C | |
| Modification date | 20200322 | 20200327 | |
| UniProtAcc | Q96C10 | . | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000251642, | ENST00000543197, ENST00000309428, ENST00000585894, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 3 X 3 X 2=18 | 13 X 10 X 6=780 |
| # samples | 3 | 16 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(16/780*10)=-2.28540221886225 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: DHX58 [Title/Abstract] AND FAM134C [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | DHX58(40263314)-FAM134C(40739882), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | DHX58-FAM134C seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. DHX58-FAM134C seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. DHX58-FAM134C seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. DHX58-FAM134C seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. | ||
| * 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 | DHX58 | GO:0032480 | negative regulation of type I interferon production | 21525357 |
| Hgene | DHX58 | GO:0039536 | negative regulation of RIG-I signaling pathway | 18411269 |
| Hgene | DHX58 | GO:0045088 | regulation of innate immune response | 18411269 |
| Hgene | DHX58 | GO:0045824 | negative regulation of innate immune response | 21525357 |
| Fusion gene breakpoints across DHX58 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across FAM134C (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| 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 | STAD | TCGA-BR-8487-01A | DHX58 | chr17 | 40263314 | - | FAM134C | chr17 | 40739882 | - |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000251642 | DHX58 | chr17 | 40263314 | - | ENST00000309428 | FAM134C | chr17 | 40739882 | - | 3946 | 593 | 223 | 1647 | 474 |
| ENST00000251642 | DHX58 | chr17 | 40263314 | - | ENST00000585894 | FAM134C | chr17 | 40739882 | - | 2132 | 593 | 223 | 1647 | 474 |
| 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 |
| ENST00000251642 | ENST00000309428 | DHX58 | chr17 | 40263314 | - | FAM134C | chr17 | 40739882 | - | 0.017984726 | 0.98201525 |
| ENST00000251642 | ENST00000585894 | DHX58 | chr17 | 40263314 | - | FAM134C | chr17 | 40739882 | - | 0.050617304 | 0.9493827 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >22703_22703_1_DHX58-FAM134C_DHX58_chr17_40263314_ENST00000251642_FAM134C_chr17_40739882_ENST00000309428_length(amino acids)=474AA_BP=123 MELRSYQWEVIMPALEGKNIIIWLPTGAGKTRAAAYVAKRHLETVDGAKVVVLVNRVHLVTQHGEEFRRMLDGRWTVTTLSGDMGPRAGF GHLARCHDLLICTAELLQMALTSPEEEEHVELTVPRPDALDNESWGFVHPRLLSVPELCHHVAEVWVSGTIFIRNVLLFKKQNPGKFCLL SCGILTFLAVLGRYVPGLLLSYLMLVTVMMWPLAVYHRLWDRAYVRLKPALQRLDFSVRGYMMSKQRERQLRRRALHPERAMDNHSDSEE ELAAFCPQLDDSTVARELAITDSEHSDAEVSCTDNGTFNLSRGQTPLTEGSEDLDGHSDPEESFARDLPDFPSINMDPAGLDDEDDTSIG MPSLMYRSPPGAEEPQAPPASRDEAALPELLLGALPVGSNLTSNLASLVSQGMIQLALSGASQPGPSGAPAQRATRGFLRSPSSDLDTDA -------------------------------------------------------------- >22703_22703_2_DHX58-FAM134C_DHX58_chr17_40263314_ENST00000251642_FAM134C_chr17_40739882_ENST00000585894_length(amino acids)=474AA_BP=123 MELRSYQWEVIMPALEGKNIIIWLPTGAGKTRAAAYVAKRHLETVDGAKVVVLVNRVHLVTQHGEEFRRMLDGRWTVTTLSGDMGPRAGF GHLARCHDLLICTAELLQMALTSPEEEEHVELTVPRPDALDNESWGFVHPRLLSVPELCHHVAEVWVSGTIFIRNVLLFKKQNPGKFCLL SCGILTFLAVLGRYVPGLLLSYLMLVTVMMWPLAVYHRLWDRAYVRLKPALQRLDFSVRGYMMSKQRERQLRRRALHPERAMDNHSDSEE ELAAFCPQLDDSTVARELAITDSEHSDAEVSCTDNGTFNLSRGQTPLTEGSEDLDGHSDPEESFARDLPDFPSINMDPAGLDDEDDTSIG MPSLMYRSPPGAEEPQAPPASRDEAALPELLLGALPVGSNLTSNLASLVSQGMIQLALSGASQPGPSGAPAQRATRGFLRSPSSDLDTDA -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:40263314/chr17:40739882) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DHX58 | . |
| FUNCTION: Acts as a regulator of DDX58/RIG-I and IFIH1/MDA5 mediated antiviral signaling. Cannot initiate antiviral signaling as it lacks the CARD domain required for activating MAVS/IPS1-dependent signaling events. Can have both negative and positive regulatory functions related to DDX58/RIG-I and IFIH1/MDA5 signaling and this role in regulating signaling may be complex and could probably depend on characteristics of the infecting virus or target cells, or both. Its inhibitory action on DDX58/RIG-I signaling may involve the following mechanisms: competition with DDX58/RIG-I for binding to the viral RNA, binding to DDX58/RIG-I and inhibiting its dimerization and interaction with MAVS/IPS1, competing with IKBKE in its binding to MAVS/IPS1 thereby inhibiting activation of interferon regulatory factor 3 (IRF3). Its positive regulatory role may involve unwinding or stripping nucleoproteins of viral RNA thereby facilitating their recognition by DDX58/RIG-I and IFIH1/MDA5. Involved in the innate immune response to various RNA viruses and some DNA viruses such as poxviruses and coronavirus SARS-CoV-2, and also to the bacterial pathogen Listeria monocytogenes (PubMed:31256877). Can bind both ssRNA and dsRNA, with a higher affinity for dsRNA. Shows a preference to 5'-triphosphorylated RNA, although it can recognize RNA lacking a 5'-triphosphate. {ECO:0000269|PubMed:16116171, ECO:0000269|PubMed:17020950, ECO:0000269|PubMed:17190814, ECO:0000269|PubMed:18411269, ECO:0000269|PubMed:19208642, ECO:0000269|PubMed:19211564, ECO:0000269|PubMed:19278996, ECO:0000269|PubMed:19380577, ECO:0000269|PubMed:21187438, ECO:0000269|PubMed:21525357, ECO:0000269|PubMed:31256877}. | FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. |
| 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. |
| - 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 |
| Hgene | DHX58 | chr17:40263314 | chr17:40739882 | ENST00000251642 | - | 4 | 14 | 24_31 | 123.33333333333333 | 679.0 | Nucleotide binding | ATP |
| Tgene | FAM134C | chr17:40263314 | chr17:40739882 | ENST00000309428 | 1 | 9 | 445_450 | 115.33333333333333 | 467.0 | Motif | LIR motif | |
| Tgene | FAM134C | chr17:40263314 | chr17:40739882 | ENST00000309428 | 1 | 9 | 164_184 | 115.33333333333333 | 467.0 | Transmembrane | Helical | |
| Tgene | FAM134C | chr17:40263314 | chr17:40739882 | ENST00000309428 | 1 | 9 | 187_207 | 115.33333333333333 | 467.0 | Transmembrane | Helical |
| - 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 |
| Hgene | DHX58 | chr17:40263314 | chr17:40739882 | ENST00000251642 | - | 4 | 14 | 489_546 | 123.33333333333333 | 679.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | DHX58 | chr17:40263314 | chr17:40739882 | ENST00000251642 | - | 4 | 14 | 11_188 | 123.33333333333333 | 679.0 | Domain | Helicase ATP-binding |
| Hgene | DHX58 | chr17:40263314 | chr17:40739882 | ENST00000251642 | - | 4 | 14 | 350_514 | 123.33333333333333 | 679.0 | Domain | Helicase C-terminal |
| Hgene | DHX58 | chr17:40263314 | chr17:40739882 | ENST00000251642 | - | 4 | 14 | 539_669 | 123.33333333333333 | 679.0 | Domain | RLR CTR |
| Hgene | DHX58 | chr17:40263314 | chr17:40739882 | ENST00000251642 | - | 4 | 14 | 131_134 | 123.33333333333333 | 679.0 | Motif | Note=DECH box |
| Hgene | DHX58 | chr17:40263314 | chr17:40739882 | ENST00000251642 | - | 4 | 14 | 572_655 | 123.33333333333333 | 679.0 | Region | Note=RNA-binding |
| Tgene | FAM134C | chr17:40263314 | chr17:40739882 | ENST00000309428 | 1 | 9 | 81_101 | 115.33333333333333 | 467.0 | Transmembrane | Helical |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| DHX58 | |
| FAM134C |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to DHX58-FAM134C |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to DHX58-FAM134C |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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