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Fusion gene ID: 7926 |
FusionGeneSummary for COL3A1_ANXA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COL3A1_ANXA1 | Fusion gene ID: 7926 | Hgene | Tgene | Gene symbol | COL3A1 | ANXA1 | Gene ID | 1281 | 301 |
| Gene name | collagen type III alpha 1 chain | annexin A1 | |
| Synonyms | EDS4A|EDSVASC | ANX1|LPC1 | |
| Cytomap | 2q32.2 | 9q21.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | collagen alpha-1(III) chainEhlers-Danlos syndrome type IV, autosomal dominantalpha-1 type III collagenalpha1 (III) collagencollagen, fetalcollagen, type III, alpha 1 | annexin A1annexin I (lipocortin I)annexin-1calpactin IIcalpactin-2chromobindin-9phospholipase A2 inhibitory protein | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P02461 | P04083 | |
| Ensembl transtripts involved in fusion gene | ENST00000304636, ENST00000317840, | ENST00000257497, ENST00000376911, ENST00000491192, | |
| Fusion gene scores | * DoF score | 24 X 18 X 11=4752 | 19 X 2 X 7=266 |
| # samples | 29 | 19 | |
| ** MAII score | log2(29/4752*10)=-4.03441003078583 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(19/266*10)=-0.485426827170242 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: COL3A1 [Title/Abstract] AND ANXA1 [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 | COL3A1 | GO:0007160 | cell-matrix adhesion | 16912226 |
| Hgene | COL3A1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 16360482 |
| Hgene | COL3A1 | GO:0009314 | response to radiation | 14736764 |
| Hgene | COL3A1 | GO:0018149 | peptide cross-linking | 16754721 |
| Hgene | COL3A1 | GO:0034097 | response to cytokine | 9076960|16360482 |
| Hgene | COL3A1 | GO:0042060 | wound healing | 1466622 |
| Tgene | ANXA1 | GO:0002548 | monocyte chemotaxis | 15187149 |
| Tgene | ANXA1 | GO:0007187 | G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger | 25664854 |
| Tgene | ANXA1 | GO:0008360 | regulation of cell shape | 15187149 |
| Tgene | ANXA1 | GO:0018149 | peptide cross-linking | 10908733 |
| Tgene | ANXA1 | GO:0030216 | keratinocyte differentiation | 10908733 |
| Tgene | ANXA1 | GO:0031340 | positive regulation of vesicle fusion | 2138016 |
| Tgene | ANXA1 | GO:0031532 | actin cytoskeleton reorganization | 15187149 |
| Tgene | ANXA1 | GO:0032743 | positive regulation of interleukin-2 production | 17008549 |
| Tgene | ANXA1 | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 22773844 |
| Tgene | ANXA1 | GO:0042102 | positive regulation of T cell proliferation | 17008549 |
| Tgene | ANXA1 | GO:0045627 | positive regulation of T-helper 1 cell differentiation | 17008549 |
| Tgene | ANXA1 | GO:0045629 | negative regulation of T-helper 2 cell differentiation | 17008549 |
| Tgene | ANXA1 | GO:0071385 | cellular response to glucocorticoid stimulus | 2936963 |
| Tgene | ANXA1 | GO:0071621 | granulocyte chemotaxis | 15187149 |
| Tgene | ANXA1 | GO:0090050 | positive regulation of cell migration involved in sprouting angiogenesis | 22773844 |
| Tgene | ANXA1 | GO:0090303 | positive regulation of wound healing | 25664854 |
| 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 |
| TCGA | RV | CESC | TCGA-EK-A2RO-01A | COL3A1 | chr2 | 189877472 | + | ANXA1 | chr9 | 75772570 | + |
| * 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 |
| 5CDS-intron | ENST00000304636 | ENST00000257497 | COL3A1 | chr2 | 189877472 | + | ANXA1 | chr9 | 75772570 | + |
| 5CDS-intron | ENST00000304636 | ENST00000376911 | COL3A1 | chr2 | 189877472 | + | ANXA1 | chr9 | 75772570 | + |
| 5CDS-intron | ENST00000304636 | ENST00000491192 | COL3A1 | chr2 | 189877472 | + | ANXA1 | chr9 | 75772570 | + |
| 5CDS-intron | ENST00000317840 | ENST00000257497 | COL3A1 | chr2 | 189877472 | + | ANXA1 | chr9 | 75772570 | + |
| 5CDS-intron | ENST00000317840 | ENST00000376911 | COL3A1 | chr2 | 189877472 | + | ANXA1 | chr9 | 75772570 | + |
| 5CDS-intron | ENST00000317840 | ENST00000491192 | COL3A1 | chr2 | 189877472 | + | ANXA1 | chr9 | 75772570 | + |
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FusionProtFeatures for COL3A1_ANXA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COL3A1 | ANXA1 |
| Plays important roles in the innate immune response aseffector of glucocorticoid-mediated responses and regulator of theinflammatory process. Has anti-inflammatory activity(PubMed:8425544). Plays a role in glucocorticoid-mediated down-regulation of the early phase of the inflammatory response (Bysimilarity). Promotes resolution of inflammation and wound healing(PubMed:25664854). Functions at least in part by activating theformyl peptide receptors and downstream signaling cascades(PubMed:15187149, PubMed:25664854). Promotes chemotaxis ofgranulocytes and monocytes via activation of the formyl peptidereceptors (PubMed:15187149). Contributes to the adaptive immuneresponse by enhancing signaling cascades that are triggered by T-cell activation, regulates differentiation and proliferation ofactivated T-cells (PubMed:17008549). Promotes the differentiationof T-cells into Th1 cells and negatively regulates differentiationinto Th2 cells (PubMed:17008549). Has no effect on unstimulated Tcells (PubMed:17008549). Promotes rearrangement of the actincytoskeleton, cell polarization and cell migration(PubMed:15187149). Negatively regulates hormone exocytosis viaactivation of the formyl peptide receptors and reorganization ofthe actin cytoskeleton (PubMed:19625660). Has high affinity forCa(2+) and can bind up to eight Ca(2+) ions (By similarity).Displays Ca(2+)-dependent binding to phospholipid membranes(PubMed:2532504, PubMed:8557678). Plays a role in the formation ofphagocytic cups and phagosomes. Plays a role in phagocytosis bymediating the Ca(2+)-dependent interaction between phagosomes andthe actin cytoskeleton (By similarity).{ECO:0000250|UniProtKB:P10107, ECO:0000250|UniProtKB:P19619,ECO:0000269|PubMed:15187149, ECO:0000269|PubMed:17008549,ECO:0000269|PubMed:19625660, ECO:0000269|PubMed:2532504,ECO:0000269|PubMed:25664854, ECO:0000269|PubMed:2936963,ECO:0000269|PubMed:8425544, ECO:0000269|PubMed:8557678}. |
| 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 COL3A1_ANXA1 |
| 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 COL3A1_ANXA1 |
| 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 |
| COL3A1 | SPARC, THBS1, MAG, SP1, CAND1, MYOC, PDGFA, PDGFB, ERAL1 | ANXA1 | PPM1B, DLG3, S100A11, KRT8, USP25, USPL1, SLX1B, ATG4B, MGMT, UCHL5, UBE3A, CD4, UBE2I, GAPDH, KLHL23, APBB1, CSAD, C1orf123, RPA1, UNC119, OTUB1, C14orf1, XRCC6, KMT2B, CCT7, UBE2D1, COPS6, LRIF1, FAF1, ANXA1, ANXA5, SIRT7, CUL5, CDK2, IKBKG, RIPK1, RELA, ANXA4, FN1, VCAM1, ATF2, ITGA4, HMGA1, BAG3, ATP4A, YWHAQ, HECW2, WWOX, ZBTB1, MEIS2, ENO1, MOV10, NXF1, CUL7, OBSL1, SUMO2, NSL1, UCP2, SOX2, KIR2DS2, DDX19B, UGT1A10, ZSCAN20, TP53BP2, MAP1S, STK4, RASSF10, HNRNPA1, HSPB1, CEP152, CEP128, CEP89, DCTN1, KIF11, PPIA, TFG, GOLT1B, CCDC88A, USP7, MCM2, EGFR, U2AF2, ACTA1, PLA2G4A, CDC73, CDH1, GNB2, FRMD1, RPUSD3, SOD1, TRIM25, G3BP1, BRCA1 |
| - 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 COL3A1_ANXA1 |
| 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 | COL3A1 | P02461 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-1(III) chain | biotech | approved|investigational |
| Tgene | ANXA1 | P04083 | DB00288 | Amcinonide | Annexin A1 | small molecule | approved |
| Tgene | ANXA1 | P04083 | DB01234 | Dexamethasone | Annexin A1 | small molecule | approved|investigational|vet_approved |
| Tgene | ANXA1 | P04083 | DB00741 | Hydrocortisone | Annexin A1 | small molecule | approved|vet_approved |
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RelatedDiseases for COL3A1_ANXA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | COL3A1 | C0268338 | Ehlers-Danlos Syndrome, Type IV | 23 | ORPHANET;UNIPROT |
| Hgene | COL3A1 | C0023890 | Liver Cirrhosis | 5 | CTD_human |
| Hgene | COL3A1 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
| Hgene | COL3A1 | C1853365 | AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 | 2 | ORPHANET;UNIPROT |
| Hgene | COL3A1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
| Hgene | COL3A1 | C0015695 | Fatty Liver | 1 | CTD_human |
| Hgene | COL3A1 | C0016059 | Fibrosis | 1 | CTD_human |
| Hgene | COL3A1 | C0020443 | Hypercholesterolemia | 1 | CTD_human |
| Hgene | COL3A1 | C0020456 | Hyperglycemia | 1 | CTD_human |
| Hgene | COL3A1 | C0020459 | Hyperinsulinism | 1 | CTD_human |
| Hgene | COL3A1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | COL3A1 | C0022548 | Keloid | 1 | CTD_human |
| Hgene | COL3A1 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
| Hgene | COL3A1 | C0023895 | Liver diseases | 1 | CTD_human |
| Hgene | COL3A1 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| Hgene | COL3A1 | C0036341 | Schizophrenia | 1 | CTD_human |
| Hgene | COL3A1 | C0041956 | Ureteral obstruction | 1 | CTD_human |
| Hgene | COL3A1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
| Hgene | COL3A1 | C0238288 | Muscular Dystrophy, Facioscapulohumeral | 1 | CTD_human |
| Hgene | COL3A1 | C0268337 | Ehlers-Danlos syndrome, type 3 (disorder) | 1 | CTD_human;UNIPROT |
| Hgene | COL3A1 | C0553980 | Endomyocardial Fibrosis | 1 | CTD_human |
| Hgene | COL3A1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
| Tgene | ANXA1 | C0024667 | Animal Mammary Neoplasms | 3 | CTD_human |
| Tgene | ANXA1 | C0024668 | Mammary Neoplasms, Experimental | 2 | CTD_human |
| Tgene | ANXA1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Tgene | ANXA1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | ANXA1 | C0022658 | Kidney Diseases | 1 | CTD_human |
| Tgene | ANXA1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | ANXA1 | C0024232 | Lymphatic Metastasis | 1 | CTD_human |
| Tgene | ANXA1 | C0026640 | Mouth Neoplasms | 1 | CTD_human |
| Tgene | ANXA1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Tgene | ANXA1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | ANXA1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | ANXA1 | C0038354 | Stomach Diseases | 1 | CTD_human |
| Tgene | ANXA1 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Tgene | ANXA1 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Tgene | ANXA1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
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