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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:C1R-COL6A1 (FusionGDB2 ID:HG715TG1291) |
Fusion Gene Summary for C1R-COL6A1 |
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Fusion gene information | Fusion gene name: C1R-COL6A1 | Fusion gene ID: hg715tg1291 | Hgene | Tgene | Gene symbol | C1R | COL6A1 | Gene ID | 715 | 1291 |
Gene name | complement C1r | collagen type VI alpha 1 chain | |
Synonyms | EDSPD1 | BTHLM1|OPLL|UCHMD1 | |
Cytomap | ('C1R')('COL6A1') 12p13.31 | 21q22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | complement C1r subcomponentcomplement component 1, r subcomponent | collagen alpha-1(VI) chainalpha 1 (VI) chain (61 AA)collagen VI, alpha-1 polypeptidecollagen, type VI, alpha 1epididymis secretory sperm binding protein | |
Modification date | 20200313 | 20200328 | |
UniProtAcc | P00736 | P12109 | |
Ensembl transtripts involved in fusion gene | ENST00000542285, ENST00000602298, | ||
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 12 X 13 X 6=936 |
# samples | 2 | 15 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(15/936*10)=-2.64154602908752 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: C1R [Title/Abstract] AND COL6A1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | C1R(7241206)-COL6A1(47412277), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | C1R-COL6A1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. C1R-COL6A1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. C1R-COL6A1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. |
* 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 |
Hgene | C1R | GO:0031638 | zymogen activation | 20178990 |
![]() * 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 | MESO | TCGA-UT-A88E-01B | C1R | chr12 | 7241206 | - | COL6A1 | chr21 | 47412277 | + |
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Fusion Gene ORF analysis for C1R-COL6A1 |
![]() * 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 |
5CDS-intron | ENST00000542285 | ENST00000498614 | C1R | chr12 | 7241206 | - | COL6A1 | chr21 | 47412277 | + |
Frame-shift | ENST00000542285 | ENST00000361866 | C1R | chr12 | 7241206 | - | COL6A1 | chr21 | 47412277 | + |
intron-3CDS | ENST00000602298 | ENST00000361866 | C1R | chr12 | 7241206 | - | COL6A1 | chr21 | 47412277 | + |
intron-intron | ENST00000602298 | ENST00000498614 | C1R | chr12 | 7241206 | - | COL6A1 | chr21 | 47412277 | + |
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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 C1R-COL6A1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
C1R | chr12 | 7241205 | - | COL6A1 | chr21 | 47412276 | + | 0.003282942 | 0.99671704 |
C1R | chr12 | 7241205 | - | COL6A1 | chr21 | 47412276 | + | 0.003282942 | 0.99671704 |
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Fusion Protein Features for C1R-COL6A1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:7241206/:47412277) - 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 |
C1R | COL6A1 |
FUNCTION: C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system. | FUNCTION: Collagen VI acts as a cell-binding protein. |
![]() * 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 C1R-COL6A1 |
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Fusion Gene PPI Analysis for C1R-COL6A1 |
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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 C1R-COL6A1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | C1R | P00736 | DB06404 | Human C1-esterase inhibitor | Inhibitor | Biotech | Approved |
Hgene | C1R | P00736 | DB14548 | Zinc sulfate, unspecified form | Modulator | Small molecule | Approved|Experimental |
Hgene | C1R | P00736 | DB00110 | Palivizumab | Biotech | Approved|Investigational | |
Hgene | C1R | P00736 | DB01593 | Zinc | Small molecule | Approved|Investigational | |
Hgene | C1R | P00736 | DB09228 | Conestat alfa | Inhibitor | Biotech | Approved|Investigational |
Hgene | C1R | P00736 | DB14487 | Zinc acetate | Small molecule | Approved|Investigational | |
Hgene | C1R | P00736 | DB14533 | Zinc chloride | Modulator | Small molecule | Approved|Investigational |
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Related Diseases for C1R-COL6A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | C1R | C4551499 | EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 | 2 | GENOMICS_ENGLAND;UNIPROT |
Hgene | C1R | C0014175 | Endometriosis | 1 | CTD_human |
Hgene | C1R | C0024141 | Lupus Erythematosus, Systemic | 1 | GENOMICS_ENGLAND |
Hgene | C1R | C0030524 | Paratuberculosis | 1 | CTD_human |
Hgene | C1R | C0268347 | Ehlers-Danlos Syndrome, Type VIII | 1 | CTD_human;ORPHANET |
Hgene | C1R | C0269102 | Endometrioma | 1 | CTD_human |
Hgene | C1R | C0272242 | Complement deficiency disease | 1 | GENOMICS_ENGLAND |
Tgene | C1834674 | BETHLEM MYOPATHY 1 | 7 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0410179 | Ullrich congenital muscular dystrophy 1 | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0000786 | Spontaneous abortion | 1 | CTD_human | |
Tgene | C0000822 | Abortion, Tubal | 1 | CTD_human | |
Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
Tgene | C0024121 | Lung Neoplasms | 1 | CTD_human | |
Tgene | C0026850 | Muscular Dystrophy | 1 | CTD_human | |
Tgene | C0242379 | Malignant neoplasm of lung | 1 | CTD_human | |
Tgene | C1135196 | Heart Failure, Diastolic | 1 | CTD_human | |
Tgene | C3830362 | Early Pregnancy Loss | 1 | CTD_human | |
Tgene | C4552766 | Miscarriage | 1 | CTD_human |