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Fusion gene ID: 9185 |
FusionGeneSummary for CYR61_COL6A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CYR61_COL6A1 | Fusion gene ID: 9185 | Hgene | Tgene | Gene symbol | CYR61 | COL6A1 | Gene ID | 3491 | 1291 |
| Gene name | cysteine rich angiogenic inducer 61 | collagen type VI alpha 1 chain | |
| Synonyms | CCN1|GIG1|IGFBP10 | BTHLM1|OPLL|UCHMD1 | |
| Cytomap | 1p22.3 | 21q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein CYR61CCN family member 1IBP-10IGF-binding protein 10IGFBP-10cysteine-rich heparin-binding protein 61cysteine-rich, anigogenic inducer, 61insulin-like growth factor-binding protein 10 | collagen alpha-1(VI) chainalpha 1 (VI) chain (61 AA)collagen VI, alpha-1 polypeptidecollagen, type VI, alpha 1 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | O00622 | P12109 | |
| Ensembl transtripts involved in fusion gene | ENST00000451137, ENST00000480413, | ENST00000361866, ENST00000498614, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 11 X 11 X 5=605 |
| # samples | 4 | 21 | |
| ** MAII score | log2(4/9*10)=2.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(21/605*10)=-1.52654581449583 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CYR61 [Title/Abstract] AND COL6A1 [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 | CYR61 | GO:0001934 | positive regulation of protein phosphorylation | 20675382 |
| Hgene | CYR61 | GO:0030335 | positive regulation of cell migration | 20675382 |
| Hgene | CYR61 | GO:0033690 | positive regulation of osteoblast proliferation | 20675382 |
| Hgene | CYR61 | GO:0044319 | wound healing, spreading of cells | 20675382 |
| Hgene | CYR61 | GO:0045669 | positive regulation of osteoblast differentiation | 20675382 |
| Hgene | CYR61 | GO:0045860 | positive regulation of protein kinase activity | 20675382 |
| Hgene | CYR61 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20675382 |
| Hgene | CYR61 | GO:0070372 | regulation of ERK1 and ERK2 cascade | 20675382 |
| 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 | CA420740 | CYR61 | chr1 | 86048850 | - | COL6A1 | chr21 | 47424290 | - |
| * 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 |
| 3UTR-3UTR | ENST00000451137 | ENST00000361866 | CYR61 | chr1 | 86048850 | - | COL6A1 | chr21 | 47424290 | - |
| 3UTR-3UTR | ENST00000451137 | ENST00000498614 | CYR61 | chr1 | 86048850 | - | COL6A1 | chr21 | 47424290 | - |
| intron-3UTR | ENST00000480413 | ENST00000361866 | CYR61 | chr1 | 86048850 | - | COL6A1 | chr21 | 47424290 | - |
| intron-3UTR | ENST00000480413 | ENST00000498614 | CYR61 | chr1 | 86048850 | - | COL6A1 | chr21 | 47424290 | - |
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FusionProtFeatures for CYR61_COL6A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CYR61 | COL6A1 |
| Promotes cell proliferation, chemotaxis, angiogenesisand cell adhesion. Appears to play a role in wound healing by up-regulating, in skin fibroblasts, the expression of a number ofgenes involved in angiogenesis, inflammation and matrix remodelingincluding VEGA-A, VEGA-C, MMP1, MMP3, TIMP1, uPA, PAI-1 andintegrins alpha-3 and alpha-5. CYR61-mediated gene regulation isdependent on heparin-binding. Down-regulates the expression ofalpha-1 and alpha-2 subunits of collagen type-1. Promotes celladhesion and adhesive signaling through integrin alpha-6/beta-1,cell migration through integrin alpha-v/beta-5 and cellproliferation through integrin alpha-v/beta-3.{ECO:0000269|PubMed:11584015}. | Collagen VI acts as a cell-binding protein. |
| 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 CYR61_COL6A1 |
| 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 CYR61_COL6A1 |
| 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 CYR61_COL6A1 |
| 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 |
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RelatedDiseases for CYR61_COL6A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CYR61 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Hgene | CYR61 | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | COL6A1 | C1834674 | Bethlem myopathy | 5 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL6A1 | C0410179 | Scleroatonic muscular dystrophy | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL6A1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Tgene | COL6A1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | COL6A1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Tgene | COL6A1 | C0026850 | Muscular Dystrophy | 1 | CTD_human |
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