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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 |
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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) |
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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 |
![]() * 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 |
![]() * 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 | + |
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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) |
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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 |
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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 |
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Fusion Protein Features for C1S-CD4 |
![]() 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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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}. |
![]() * 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 |
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Fusion Gene PPI Analysis for C1S-CD4 |
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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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Related Drugs for C1S-CD4 |
![]() (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 |
![]() (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 |