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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:C1S-CD4 (FusionGDB2 ID:HG716TG920) |
Fusion Gene Summary for C1S-CD4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: C1S-CD4 | Fusion gene ID: hg716tg920 | Hgene | Tgene | Gene symbol | C1S | CD4 | Gene ID | 716 | 920 |
| Gene name | complement C1s | CD4 molecule | |
| Synonyms | EDSPD2 | CD4mut | |
| Cytomap | ('C1S')('CD4') 12p13.31 | 12p13.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | complement C1s subcomponentC1 esterasebasic proline-rich peptide IB-1complement component 1 subcomponent scomplement component 1, s subcomponent | T-cell surface glycoprotein CD4CD4 antigen (p55)CD4 receptorT-cell surface antigen T4/Leu-3 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P09871 | P01730 | |
| Ensembl transtripts involved in fusion gene | ENST00000406697, ENST00000328916, ENST00000360817, ENST00000402681, ENST00000495061, | ||
| Fusion gene scores | * DoF score | 11 X 10 X 6=660 | 2 X 2 X 2=8 |
| # samples | 11 | 2 | |
| ** MAII score | log2(11/660*10)=-2.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: C1S [Title/Abstract] AND CD4 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | C1S(7096461)-CD4(6923308), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | CD4 | GO:0001934 | positive regulation of protein phosphorylation | 24942581 |
| Tgene | CD4 | GO:0006948 | induction by virus of host cell-cell fusion | 9166430 |
| Tgene | CD4 | GO:0030217 | T cell differentiation | 1533274 |
| Tgene | CD4 | GO:0032507 | maintenance of protein location in cell | 15128768 |
| Tgene | CD4 | GO:0033674 | positive regulation of kinase activity | 24942581 |
| Tgene | CD4 | GO:0035723 | interleukin-15-mediated signaling pathway | 24942581 |
| Tgene | CD4 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 24942581 |
| Tgene | CD4 | GO:0043410 | positive regulation of MAPK cascade | 24942581 |
| Tgene | CD4 | GO:0045058 | T cell selection | 9551897 |
| Tgene | CD4 | GO:0045657 | positive regulation of monocyte differentiation | 24942581 |
| Tgene | CD4 | GO:0045860 | positive regulation of protein kinase activity | 2118992 |
| Tgene | CD4 | GO:0045893 | positive regulation of transcription, DNA-templated | 24942581 |
| Tgene | CD4 | GO:0046598 | positive regulation of viral entry into host cell | 24942581 |
| Tgene | CD4 | GO:0050863 | regulation of T cell activation | 1533274 |
| Tgene | CD4 | GO:0051924 | regulation of calcium ion transport | 24942581 |
| Tgene | CD4 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 24942581 |
| Tgene | CD4 | GO:0097011 | cellular response to granulocyte macrophage colony-stimulating factor stimulus | 24942581 |
| Fusion gene information * 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 | LUSC | TCGA-22-1017-01A | C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923308 | + |
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Fusion Gene ORF analysis for C1S-CD4 |
| 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 |
| 5UTR-3CDS | ENST00000406697 | ENST00000011653 | C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923308 | + |
| 5UTR-3CDS | ENST00000406697 | ENST00000541982 | C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923308 | + |
| 5UTR-3UTR | ENST00000406697 | ENST00000538827 | C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923308 | + |
| intron-3CDS | ENST00000328916 | ENST00000011653 | C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923308 | + |
| intron-3CDS | ENST00000328916 | ENST00000541982 | C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923308 | + |
| intron-3CDS | ENST00000360817 | ENST00000011653 | C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923308 | + |
| intron-3CDS | ENST00000360817 | ENST00000541982 | C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923308 | + |
| intron-3CDS | ENST00000402681 | ENST00000011653 | C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923308 | + |
| intron-3CDS | ENST00000402681 | ENST00000541982 | C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923308 | + |
| intron-3CDS | ENST00000495061 | ENST00000011653 | C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923308 | + |
| intron-3CDS | ENST00000495061 | ENST00000541982 | C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923308 | + |
| intron-3UTR | ENST00000328916 | ENST00000538827 | C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923308 | + |
| intron-3UTR | ENST00000360817 | ENST00000538827 | C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923308 | + |
| intron-3UTR | ENST00000402681 | ENST00000538827 | C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923308 | + |
| intron-3UTR | ENST00000495061 | ENST00000538827 | C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923308 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| 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 |
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Fusion Genomic Features for C1S-CD4 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923307 | + | 6.11E-05 | 0.99993885 |
| C1S | chr12 | 7096461 | + | CD4 | chr12 | 6923307 | + | 6.11E-05 | 0.99993885 |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for C1S-CD4 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:7096461/:6923308) - 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 |
| C1S | CD4 |
| FUNCTION: C1s B chain is a serine protease that combines with C1q and C1r to form C1, the first component of the classical pathway of the complement system. C1r activates C1s so that it can, in turn, activate C2 and C4. | FUNCTION: Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class II molecule:peptide complex. The antigens presented by class II peptides are derived from extracellular proteins while class I peptides are derived from cytosolic proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class II presented by antigen presenting cells (APCs). In turn, recruits the Src kinase LCK to the vicinity of the TCR-CD3 complex. LCK then initiates different intracellular signaling pathways by phosphorylating various substrates ultimately leading to lymphokine production, motility, adhesion and activation of T-helper cells. In other cells such as macrophages or NK cells, plays a role in differentiation/activation, cytokine expression and cell migration in a TCR/LCK-independent pathway. Participates in the development of T-helper cells in the thymus and triggers the differentiation of monocytes into functional mature macrophages. {ECO:0000269|PubMed:16951326, ECO:0000269|PubMed:24942581, ECO:0000269|PubMed:2823150, ECO:0000269|PubMed:7604010}.; FUNCTION: (Microbial infection) Primary receptor for human immunodeficiency virus-1 (HIV-1) (PubMed:2214026, PubMed:16331979, PubMed:9641677, PubMed:12089508). Down-regulated by HIV-1 Vpu (PubMed:17346169). Acts as a receptor for Human Herpes virus 7/HHV-7 (PubMed:7909607). {ECO:0000269|PubMed:12089508, ECO:0000269|PubMed:16331979, ECO:0000269|PubMed:17346169, ECO:0000269|PubMed:2214026, ECO:0000269|PubMed:7909607, ECO:0000269|PubMed:9641677}. |
| 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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Fusion Gene Sequence for C1S-CD4 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for C1S-CD4 |
| 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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Related Drugs for C1S-CD4 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | C1S | P09871 | DB06404 | Human C1-esterase inhibitor | Inhibitor | Biotech | Approved |
| Hgene | C1S | P09871 | DB14548 | Zinc sulfate, unspecified form | Modulator | Small molecule | Approved|Experimental |
| Hgene | C1S | P09871 | DB01593 | Zinc | Small molecule | Approved|Investigational | |
| Hgene | C1S | P09871 | DB09130 | Copper | Small molecule | Approved|Investigational | |
| Hgene | C1S | P09871 | DB09228 | Conestat alfa | Inhibitor | Biotech | Approved|Investigational |
| Hgene | C1S | P09871 | DB14487 | Zinc acetate | Small molecule | Approved|Investigational | |
| Hgene | C1S | P09871 | DB14533 | Zinc chloride | Modulator | Small molecule | Approved|Investigational |
| Tgene | CD4 | P01730 | DB00098 | Antithymocyte immunoglobulin (rabbit) | Biotech | Approved | |
| Tgene | CD4 | P01730 | DB12698 | Ibalizumab | Antagonist | Biotech | Approved|Investigational |
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Related Diseases for C1S-CD4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | C1S | C4310681 | EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | C1S | C0004364 | Autoimmune Diseases | 1 | CTD_human |
| Hgene | C1S | C0024141 | Lupus Erythematosus, Systemic | 1 | GENOMICS_ENGLAND |
| Hgene | C1S | C0241910 | Autoimmune Chronic Hepatitis | 1 | CTD_human |
| Hgene | C1S | C0268347 | Ehlers-Danlos Syndrome, Type VIII | 1 | ORPHANET |
| Hgene | C1S | C0272242 | Complement deficiency disease | 1 | GENOMICS_ENGLAND |
| Hgene | C1S | C0677607 | Hashimoto Disease | 1 | CTD_human |
| Hgene | C1S | C1862892 | Hereditary Angioedema Type II | 1 | CTD_human |
| Hgene | C1S | C2717905 | Hereditary Angioedema Types I and II | 1 | CTD_human |
| Hgene | C1S | C2717906 | Hereditary Angioedema Type I | 1 | CTD_human |
| Hgene | C1S | C3151078 | Complement Component C1s Deficiency | 1 | CTD_human;GENOMICS_ENGLAND |
| Tgene | C0013264 | Muscular Dystrophy, Duchenne | 1 | CTD_human | |
| Tgene | C0027746 | Nerve Degeneration | 1 | CTD_human | |
| Tgene | C0162526 | AIDS-Related Opportunistic Infections | 1 | CTD_human | |
| Tgene | C0917713 | Becker Muscular Dystrophy | 1 | CTD_human | |
| Tgene | C3542021 | Duchenne and Becker Muscular Dystrophy | 1 | CTD_human |
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