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Fusion gene ID: 7877 |
FusionGeneSummary for COL1A1_MMP2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: COL1A1_MMP2 | Fusion gene ID: 7877 | Hgene | Tgene | Gene symbol | COL1A1 | MMP2 | Gene ID | 1277 | 4313 |
Gene name | collagen type I alpha 1 chain | matrix metallopeptidase 2 | |
Synonyms | EDSARTH1|EDSC|OI1|OI2|OI3|OI4 | CLG4|CLG4A|MMP-2|MMP-II|MONA|TBE-1 | |
Cytomap | 17q21.33 | 16q12.2 | |
Type of gene | protein-coding | protein-coding | |
Description | collagen alpha-1(I) chainalpha-1 type I collagenalpha1(I) procollagencollagen alpha 1 chain type Icollagen alpha-1(I) chain preproproteincollagen of skin, tendon and bone, alpha-1 chaincollagen, type I, alpha 1pro-alpha-1 collagen type 1type I pro | 72 kDa type IV collagenasecollagenase type IV-Amatrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)matrix metalloproteinase-2matrix metalloproteinase-IIneutrophil gelatinase | |
Modification date | 20180527 | 20180519 | |
UniProtAcc | P02452 | P08253 | |
Ensembl transtripts involved in fusion gene | ENST00000225964, | ENST00000570308, ENST00000219070, ENST00000543485, ENST00000437642, | |
Fusion gene scores | * DoF score | 28 X 47 X 4=5264 | 5 X 5 X 4=100 |
# samples | 52 | 5 | |
** MAII score | log2(52/5264*10)=-3.33957596070679 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: COL1A1 [Title/Abstract] AND MMP2 [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 | COL1A1 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 20018240 |
Hgene | COL1A1 | GO:0030335 | positive regulation of cell migration | 20018240 |
Hgene | COL1A1 | GO:0034504 | protein localization to nucleus | 20018240 |
Hgene | COL1A1 | GO:0045893 | positive regulation of transcription, DNA-templated | 20018240 |
Hgene | COL1A1 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 20018240 |
Tgene | MMP2 | GO:0006508 | proteolysis | 15863497 |
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 | LD | BRCA | TCGA-E9-A229-01A | COL1A1 | chr17 | 48271710 | - | MMP2 | chr16 | 55525713 | + |
* 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 | ENST00000225964 | ENST00000570308 | COL1A1 | chr17 | 48271710 | - | MMP2 | chr16 | 55525713 | + |
Frame-shift | ENST00000225964 | ENST00000219070 | COL1A1 | chr17 | 48271710 | - | MMP2 | chr16 | 55525713 | + |
Frame-shift | ENST00000225964 | ENST00000543485 | COL1A1 | chr17 | 48271710 | - | MMP2 | chr16 | 55525713 | + |
Frame-shift | ENST00000225964 | ENST00000437642 | COL1A1 | chr17 | 48271710 | - | MMP2 | chr16 | 55525713 | + |
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FusionProtFeatures for COL1A1_MMP2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
COL1A1 | MMP2 |
Ubiquitinous metalloproteinase that is involved indiverse functions such as remodeling of the vasculature,angiogenesis, tissue repair, tumor invasion, inflammation, andatherosclerotic plaque rupture. As well as degrading extracellularmatrix proteins, can also act on several nonmatrix proteins suchas big endothelial 1 and beta-type CGRP promotingvasoconstriction. Also cleaves KISS at a Gly-|-Leu bond. Appearsto have a role in myocardial cell death pathways. Contributes tomyocardial oxidative stress by regulating the activity ofGSK3beta. Cleaves GSK3beta in vitro. Involved in the formation ofthe fibrovascular tissues in association with MMP14. PEX, the C-terminal non-catalytic fragment of MMP2,posseses anti-angiogenic and anti-tumor properties and inhibitscell migration and cell adhesion to FGF2 and vitronectin. Ligandfor integrinv/beta3 on the surface of blood vessels. Isoform 2: Mediates the proteolysis of CHUK/IKKA andinitiates a primary innate immune response by inducingmitochondrial-nuclear stress signaling with activation of the pro-inflammatory NF-kappaB, NFAT and IRF transcriptional pathways. |
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 COL1A1_MMP2 |
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 COL1A1_MMP2 |
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 |
COL1A1 | IGFBP3, TXN, ITGA2, ITGB1, NID1, NID2, SPARC, PRELP, PKD1, VWF, THBS1, MMP2, COL7A1, MATN2, MAG, ELAVL1, ATP13A2, C12orf57, RNH1, BARD1, BRCA1, UBC, CAPN1, COL1A1, COL1A2, PDGFA, PDGFB, GIPC2, UBXN11, DNM3, CD200R1, TMTC4, ERAL1, CAMKMT, TMEM180, OTUB1, EGFR, COLGALT2, P4HA2, PLOD1, LIN9, TIMM44, RASGEF1B, TLE3, YAF2, LPAR1, CYLD, MCPH1 | MMP2 | TIMP2, TIMP3, TGFB1, PZP, A2M, CCL7, LCN2, BCAN, COL1A1, TIMP4, THBS1, THBS2, USP12, OSBPL10, ITGAV, ITGB1, CAND1, HSP90AA1, BACE1, PAK4, ITGB3, COL14A1, COL12A1, COL2A1, FN1, COL18A1, HIST2H2AC, COL4A2, EDA, COL5A1, COL6A1, COL4A1, COL6A2, COLEC12, COL4A6, KLHL15, MTNR1A, MTNR1B |
- 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 COL1A1_MMP2 |
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 | COL1A1 | P02452 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-1(I) chain | biotech | approved|investigational |
Hgene | COL1A1 | P02452 | DB13133 | Von Willebrand Factor Human | Collagen alpha-1(I) chain | biotech | approved|investigational |
Tgene | MMP2 | P08253 | DB01197 | Captopril | 72 kDa type IV collagenase | small molecule | approved |
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RelatedDiseases for COL1A1_MMP2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | COL1A1 | C0268358 | Osteogenesis imperfecta, dominant perinatal lethal | 39 | CTD_human;ORPHANET;UNIPROT |
Hgene | COL1A1 | C0268362 | Osteogenesis imperfecta type III (disorder) | 18 | CTD_human;ORPHANET;UNIPROT |
Hgene | COL1A1 | C0268363 | Osteogenesis imperfecta type IV (disorder) | 14 | CTD_human;ORPHANET;UNIPROT |
Hgene | COL1A1 | C0023931 | Lobstein's Disease | 12 | ORPHANET;UNIPROT |
Hgene | COL1A1 | C0023890 | Liver Cirrhosis | 4 | CTD_human |
Hgene | COL1A1 | C0023893 | Liver Cirrhosis, Experimental | 3 | CTD_human |
Hgene | COL1A1 | C4225429 | Ehlers-Danlos syndrome classic type | 2 | UNIPROT |
Hgene | COL1A1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
Hgene | COL1A1 | C0002949 | Aneurysm, Dissecting | 1 | CTD_human |
Hgene | COL1A1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
Hgene | COL1A1 | C0004364 | Autoimmune Diseases | 1 | CTD_human |
Hgene | COL1A1 | C0006663 | Calcinosis | 1 | CTD_human |
Hgene | COL1A1 | C0008311 | Cholangitis | 1 | CTD_human |
Hgene | COL1A1 | C0016059 | Fibrosis | 1 | CTD_human |
Hgene | COL1A1 | C0018824 | Heart valve disease | 1 | CTD_human |
Hgene | COL1A1 | C0020497 | Cortical Congenital Hyperostosis | 1 | CTD_human;ORPHANET;UNIPROT |
Hgene | COL1A1 | C0020538 | Hypertensive disease | 1 | CTD_human |
Hgene | COL1A1 | C0022548 | Keloid | 1 | CTD_human |
Hgene | COL1A1 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
Hgene | COL1A1 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
Hgene | COL1A1 | C0029434 | Osteogenesis Imperfecta | 1 | CTD_human |
Hgene | COL1A1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
Hgene | COL1A1 | C1619692 | Nephrogenic Fibrosing Dermopathy | 1 | CTD_human |
Tgene | MMP2 | C0027627 | Neoplasm Metastasis | 5 | CTD_human |
Tgene | MMP2 | C0027626 | Neoplasm Invasiveness | 4 | CTD_human |
Tgene | MMP2 | C0006663 | Calcinosis | 2 | CTD_human |
Tgene | MMP2 | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
Tgene | MMP2 | C0023890 | Liver Cirrhosis | 2 | CTD_human |
Tgene | MMP2 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
Tgene | MMP2 | C0027051 | Myocardial Infarction | 2 | CTD_human |
Tgene | MMP2 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
Tgene | MMP2 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
Tgene | MMP2 | C1850155 | TORG-WINCHESTER SYNDROME | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | MMP2 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Tgene | MMP2 | C0003493 | Aortic Diseases | 1 | CTD_human |
Tgene | MMP2 | C0003496 | Aortic Rupture | 1 | CTD_human |
Tgene | MMP2 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
Tgene | MMP2 | C0005940 | Bone Diseases | 1 | CTD_human |
Tgene | MMP2 | C0005944 | Metabolic Bone Disorder | 1 | CTD_human |
Tgene | MMP2 | C0005967 | Bone neoplasms | 1 | CTD_human |
Tgene | MMP2 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
Tgene | MMP2 | C0011882 | Diabetic Neuropathies | 1 | CTD_human |
Tgene | MMP2 | C0017636 | Glioblastoma | 1 | CTD_human |
Tgene | MMP2 | C0020538 | Hypertensive disease | 1 | CTD_human |
Tgene | MMP2 | C0021368 | Inflammation | 1 | CTD_human |
Tgene | MMP2 | C0023283 | Leishmaniasis, Cutaneous | 1 | CTD_human |
Tgene | MMP2 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
Tgene | MMP2 | C0024143 | Lupus Nephritis | 1 | CTD_human |
Tgene | MMP2 | C0024689 | Mandibular Diseases | 1 | CTD_human |
Tgene | MMP2 | C0024796 | Marfan Syndrome | 1 | CTD_human |
Tgene | MMP2 | C0024950 | Maxillary Diseases | 1 | CTD_human |
Tgene | MMP2 | C0027439 | Nasopharyngeal Neoplasms | 1 | CTD_human |
Tgene | MMP2 | C0028433 | Nose Neoplasms | 1 | CTD_human |
Tgene | MMP2 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
Tgene | MMP2 | C0029445 | Bone necrosis | 1 | CTD_human |
Tgene | MMP2 | C0029463 | Osteosarcoma | 1 | CTD_human |
Tgene | MMP2 | C0034067 | Pulmonary Emphysema | 1 | CTD_human |
Tgene | MMP2 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
Tgene | MMP2 | C0043094 | Weight Gain | 1 | CTD_human |
Tgene | MMP2 | C0085762 | Alcohol abuse | 1 | PSYGENET |
Tgene | MMP2 | C0162872 | Aortic Aneurysm, Thoracic | 1 | CTD_human |
Tgene | MMP2 | C1336708 | Testicular Germ Cell Tumor | 1 | CTD_human |
Tgene | MMP2 | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | MMP2 | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |
Tgene | MMP2 | C2936380 | Neointima | 1 | CTD_human |
Tgene | MMP2 | C2937358 | Cerebral Hemorrhage | 1 | CTD_human |
Tgene | MMP2 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |