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Fusion gene ID: 4816 |
FusionGeneSummary for C1QC_C1QC |
Fusion gene summary |
Fusion gene information | Fusion gene name: C1QC_C1QC | Fusion gene ID: 4816 | Hgene | Tgene | Gene symbol | C1QC | C1QC | Gene ID | 714 | 714 |
Gene name | complement C1q C chain | complement C1q C chain | |
Synonyms | C1Q-C|C1QG | C1Q-C|C1QG | |
Cytomap | 1p36.12 | 1p36.12 | |
Type of gene | protein-coding | protein-coding | |
Description | complement C1q subcomponent subunit Ccomplement component 1, q subcomponent, C chaincomplement component 1, q subcomponent, gamma polypeptide | complement C1q subcomponent subunit Ccomplement component 1, q subcomponent, C chaincomplement component 1, q subcomponent, gamma polypeptide | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | P02747 | P02747 | |
Ensembl transtripts involved in fusion gene | ENST00000374640, ENST00000374639, ENST00000374637, | ENST00000374640, ENST00000374639, ENST00000374637, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 2 X 2 X 2=8 |
# samples | 4 | 3 | |
** MAII score | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/8*10)=1.90689059560852 | |
Context | PubMed: C1QC [Title/Abstract] AND C1QC [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 |
Hgene | C1QC | GO:0030853 | negative regulation of granulocyte differentiation | 10961870 |
Hgene | C1QC | GO:0045650 | negative regulation of macrophage differentiation | 10961870 |
Tgene | C1QC | GO:0030853 | negative regulation of granulocyte differentiation | 10961870 |
Tgene | C1QC | GO:0045650 | negative regulation of macrophage differentiation | 10961870 |
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 | BE769808 | C1QC | chr1 | 22970664 | - | C1QC | chr1 | 22974216 | - | ||
ChiTaRS3.1 | BE769806 | C1QC | chr1 | 22970664 | - | C1QC | chr1 | 22974216 | - |
* 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 | ENST00000374640 | ENST00000374640 | C1QC | chr1 | 22970664 | - | C1QC | chr1 | 22974216 | - |
Frame-shift | ENST00000374640 | ENST00000374639 | C1QC | chr1 | 22970664 | - | C1QC | chr1 | 22974216 | - |
In-frame | ENST00000374640 | ENST00000374637 | C1QC | chr1 | 22970664 | - | C1QC | chr1 | 22974216 | - |
Frame-shift | ENST00000374639 | ENST00000374640 | C1QC | chr1 | 22970664 | - | C1QC | chr1 | 22974216 | - |
Frame-shift | ENST00000374639 | ENST00000374639 | C1QC | chr1 | 22970664 | - | C1QC | chr1 | 22974216 | - |
In-frame | ENST00000374639 | ENST00000374637 | C1QC | chr1 | 22970664 | - | C1QC | chr1 | 22974216 | - |
Frame-shift | ENST00000374637 | ENST00000374640 | C1QC | chr1 | 22970664 | - | C1QC | chr1 | 22974216 | - |
Frame-shift | ENST00000374637 | ENST00000374639 | C1QC | chr1 | 22970664 | - | C1QC | chr1 | 22974216 | - |
In-frame | ENST00000374637 | ENST00000374637 | C1QC | chr1 | 22970664 | - | C1QC | chr1 | 22974216 | - |
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FusionProtFeatures for C1QC_C1QC |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
C1QC | C1QC |
C1q associates with the proenzymes C1r and C1s to yieldC1, the first component of the serum complement system. Thecollagen-like regions of C1q interact with the Ca(2+)-dependentC1r(2)C1s(2) proenzyme complex, and efficient activation of C1takes place on interaction of the globular heads of C1q with theFc regions of IgG or IgM antibody present in immune complexes. | C1q associates with the proenzymes C1r and C1s to yieldC1, the first component of the serum complement system. Thecollagen-like regions of C1q interact with the Ca(2+)-dependentC1r(2)C1s(2) proenzyme complex, and efficient activation of C1takes place on interaction of the globular heads of C1q with theFc regions of IgG or IgM antibody present in immune complexes. |
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 C1QC_C1QC |
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 C1QC_C1QC |
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 C1QC_C1QC |
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 |
Hgene | C1QC | P02747 | DB00002 | Cetuximab | Complement C1q subcomponent subunit C | biotech | approved |
Hgene | C1QC | P02747 | DB00051 | Adalimumab | Complement C1q subcomponent subunit C | biotech | approved |
Hgene | C1QC | P02747 | DB00054 | Abciximab | Complement C1q subcomponent subunit C | biotech | approved |
Hgene | C1QC | P02747 | DB00073 | Rituximab | Complement C1q subcomponent subunit C | biotech | approved |
Hgene | C1QC | P02747 | DB00005 | Etanercept | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Hgene | C1QC | P02747 | DB00056 | Gemtuzumab ozogamicin | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Hgene | C1QC | P02747 | DB00072 | Trastuzumab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Hgene | C1QC | P02747 | DB00074 | Basiliximab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Hgene | C1QC | P02747 | DB00075 | Muromonab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Hgene | C1QC | P02747 | DB00078 | Ibritumomab tiuxetan | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Hgene | C1QC | P02747 | DB00081 | Tositumomab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Hgene | C1QC | P02747 | DB00087 | Alemtuzumab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Hgene | C1QC | P02747 | DB00095 | Efalizumab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Hgene | C1QC | P02747 | DB00108 | Natalizumab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Hgene | C1QC | P02747 | DB00110 | Palivizumab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Hgene | C1QC | P02747 | DB00112 | Bevacizumab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Hgene | C1QC | P02747 | DB01593 | Zinc | Complement C1q subcomponent subunit C | small molecule | approved|investigational |
Hgene | C1QC | P02747 | DB00092 | Alefacept | Complement C1q subcomponent subunit C | biotech | approved|investigational|withdrawn |
Tgene | C1QC | P02747 | DB00002 | Cetuximab | Complement C1q subcomponent subunit C | biotech | approved |
Tgene | C1QC | P02747 | DB00051 | Adalimumab | Complement C1q subcomponent subunit C | biotech | approved |
Tgene | C1QC | P02747 | DB00054 | Abciximab | Complement C1q subcomponent subunit C | biotech | approved |
Tgene | C1QC | P02747 | DB00073 | Rituximab | Complement C1q subcomponent subunit C | biotech | approved |
Tgene | C1QC | P02747 | DB00005 | Etanercept | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Tgene | C1QC | P02747 | DB00056 | Gemtuzumab ozogamicin | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Tgene | C1QC | P02747 | DB00072 | Trastuzumab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Tgene | C1QC | P02747 | DB00074 | Basiliximab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Tgene | C1QC | P02747 | DB00075 | Muromonab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Tgene | C1QC | P02747 | DB00078 | Ibritumomab tiuxetan | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Tgene | C1QC | P02747 | DB00081 | Tositumomab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Tgene | C1QC | P02747 | DB00087 | Alemtuzumab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Tgene | C1QC | P02747 | DB00095 | Efalizumab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Tgene | C1QC | P02747 | DB00108 | Natalizumab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Tgene | C1QC | P02747 | DB00110 | Palivizumab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Tgene | C1QC | P02747 | DB00112 | Bevacizumab | Complement C1q subcomponent subunit C | biotech | approved|investigational |
Tgene | C1QC | P02747 | DB01593 | Zinc | Complement C1q subcomponent subunit C | small molecule | approved|investigational |
Tgene | C1QC | P02747 | DB00092 | Alefacept | Complement C1q subcomponent subunit C | biotech | approved|investigational|withdrawn |
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RelatedDiseases for C1QC_C1QC |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | C1QC | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | C1QC | C3150902 | C1q DEFICIENCY | 1 | UNIPROT |
Tgene | C1QC | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | C1QC | C3150902 | C1q DEFICIENCY | 1 | UNIPROT |