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Fusion gene ID: 7897 |
FusionGeneSummary for COL1A2_LTB4R |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COL1A2_LTB4R | Fusion gene ID: 7897 | Hgene | Tgene | Gene symbol | COL1A2 | LTB4R | Gene ID | 1278 | 1241 |
| Gene name | collagen type I alpha 2 chain | leukotriene B4 receptor | |
| Synonyms | EDSARTH2|EDSCV|OI4 | BLT1|BLTR|CMKRL1|GPR16|LTB4R1|LTBR1|P2RY7|P2Y7 | |
| Cytomap | 7q21.3 | 14q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | collagen alpha-2(I) chainalpha 2 type I procollagenalpha 2(I) procollagenalpha 2(I)-collagenalpha-2 type I collagencollagen I, alpha-2 polypeptidecollagen of skin, tendon and bone, alpha-2 chaincollagen, type I, alpha 2type I procollagen | leukotriene B4 receptor 1G protein-coupled receptor 16LTB4-R 1LTB4-R1P2Y purinoceptor 7chemoattractant receptor-like 1chemokine receptor-like 1purinergic receptor P2Y, G-protein coupled, 7 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P08123 | Q15722 | |
| Ensembl transtripts involved in fusion gene | ENST00000297268, | ENST00000345363, ENST00000396789, ENST00000396782, | |
| Fusion gene scores | * DoF score | 15 X 20 X 5=1500 | 1 X 1 X 1=1 |
| # samples | 21 | 1 | |
| ** MAII score | log2(21/1500*10)=-2.83650126771712 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: COL1A2 [Title/Abstract] AND LTB4R [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 | COL1A2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 17217948 |
| Hgene | COL1A2 | GO:0007266 | Rho protein signal transduction | 17217948 |
| 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 | AW947290 | COL1A2 | chr7 | 94060247 | + | LTB4R | chr14 | 24783887 | - |
| * 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-intron | ENST00000297268 | ENST00000345363 | COL1A2 | chr7 | 94060247 | + | LTB4R | chr14 | 24783887 | - |
| 3UTR-5UTR | ENST00000297268 | ENST00000396789 | COL1A2 | chr7 | 94060247 | + | LTB4R | chr14 | 24783887 | - |
| 3UTR-intron | ENST00000297268 | ENST00000396782 | COL1A2 | chr7 | 94060247 | + | LTB4R | chr14 | 24783887 | - |
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FusionProtFeatures for COL1A2_LTB4R |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COL1A2 | LTB4R |
| Receptor for extracellular ATP > UTP and ADP. Theactivity of this receptor is mediated by G proteins which activatea phosphatidylinositol-calcium second messenger system. May be thecardiac P2Y receptor involved in the regulation of cardiac musclecontraction through modulation of L-type calcium currents. Is areceptor for leukotriene B4, a potent chemoattractant involved ininflammation and immune response. |
| 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 COL1A2_LTB4R |
| 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 COL1A2_LTB4R |
| 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 COL1A2_LTB4R |
| 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 | COL1A2 | P08123 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-2(I) chain | biotech | approved|investigational |
| Tgene | LTB4R | Q15722 | DB09285 | Morniflumate | Leukotriene B4 receptor 1 | small molecule | approved |
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RelatedDiseases for COL1A2_LTB4R |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | COL1A2 | C0268362 | Osteogenesis imperfecta type III (disorder) | 17 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL1A2 | C0268358 | Osteogenesis imperfecta, dominant perinatal lethal | 14 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL1A2 | C0268363 | Osteogenesis imperfecta type IV (disorder) | 11 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL1A2 | C0023931 | Lobstein's Disease | 6 | ORPHANET;UNIPROT |
| Hgene | COL1A2 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Hgene | COL1A2 | C0016059 | Fibrosis | 1 | CTD_human |
| Hgene | COL1A2 | C0018824 | Heart valve disease | 1 | CTD_human |
| Hgene | COL1A2 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Hgene | COL1A2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | COL1A2 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
| Hgene | COL1A2 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| Hgene | COL1A2 | C0036421 | Systemic Scleroderma | 1 | CTD_human |
| Hgene | COL1A2 | C1857034 | Ehlers-Danlos syndrome, cardiac valvular form | 1 | CTD_human;ORPHANET |
| Tgene | LTB4R | C0002792 | anaphylaxis | 1 | CTD_human |
| Tgene | LTB4R | C0021368 | Inflammation | 1 | CTD_human |
| Tgene | LTB4R | C0023895 | Liver diseases | 1 | CTD_human |
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