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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 7877

FusionGeneSummary for COL1A1_MMP2

check button Fusion gene summary
Fusion gene informationFusion gene name: COL1A1_MMP2
Fusion gene ID: 7877
HgeneTgene
Gene symbol

COL1A1

MMP2

Gene ID

1277

4313

Gene namecollagen type I alpha 1 chainmatrix metallopeptidase 2
SynonymsEDSARTH1|EDSC|OI1|OI2|OI3|OI4CLG4|CLG4A|MMP-2|MMP-II|MONA|TBE-1
Cytomap

17q21.33

16q12.2

Type of geneprotein-codingprotein-coding
Descriptioncollagen 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 pro72 kDa type IV collagenasecollagenase type IV-Amatrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)matrix metalloproteinase-2matrix metalloproteinase-IIneutrophil gelatinase
Modification date2018052720180519
UniProtAcc

P02452

P08253

Ensembl transtripts involved in fusion geneENST00000225964, ENST00000570308, 
ENST00000219070, ENST00000543485, 
ENST00000437642, 
Fusion gene scores* DoF score28 X 47 X 4=52645 X 5 X 4=100
# samples 525
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCOL1A1

GO:0010718

positive regulation of epithelial to mesenchymal transition

20018240

HgeneCOL1A1

GO:0030335

positive regulation of cell migration

20018240

HgeneCOL1A1

GO:0034504

protein localization to nucleus

20018240

HgeneCOL1A1

GO:0045893

positive regulation of transcription, DNA-templated

20018240

HgeneCOL1A1

GO:0090263

positive regulation of canonical Wnt signaling pathway

20018240

TgeneMMP2

GO:0006508

proteolysis

15863497


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-E9-A229-01ACOL1A1chr17

48271710

-MMP2chr16

55525713

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000225964ENST00000570308COL1A1chr17

48271710

-MMP2chr16

55525713

+
Frame-shitENST00000225964ENST00000219070COL1A1chr17

48271710

-MMP2chr16

55525713

+
Frame-shitENST00000225964ENST00000543485COL1A1chr17

48271710

-MMP2chr16

55525713

+
Frame-shitENST00000225964ENST00000437642COL1A1chr17

48271710

-MMP2chr16

55525713

+

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FusionProtFeatures for COL1A1_MMP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COL1A1

P02452

MMP2

P08253

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.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for COL1A1_MMP2


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
COL1A1IGFBP3, 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, MCPH1MMP2TIMP2, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for COL1A1_MMP2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCOL1A1P02452DB00048Collagenase clostridium histolyticumCollagen alpha-1(I) chainbiotechapproved|investigational
HgeneCOL1A1P02452DB13133Von Willebrand Factor HumanCollagen alpha-1(I) chainbiotechapproved|investigational
TgeneMMP2P08253DB01197Captopril72 kDa type IV collagenasesmall moleculeapproved

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RelatedDiseases for COL1A1_MMP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL1A1C0268358Osteogenesis imperfecta, dominant perinatal lethal39CTD_human;ORPHANET;UNIPROT
HgeneCOL1A1C0268362Osteogenesis imperfecta type III (disorder)18CTD_human;ORPHANET;UNIPROT
HgeneCOL1A1C0268363Osteogenesis imperfecta type IV (disorder)14CTD_human;ORPHANET;UNIPROT
HgeneCOL1A1C0023931Lobstein's Disease12ORPHANET;UNIPROT
HgeneCOL1A1C0023890Liver Cirrhosis4CTD_human
HgeneCOL1A1C0023893Liver Cirrhosis, Experimental3CTD_human
HgeneCOL1A1C4225429Ehlers-Danlos syndrome classic type2UNIPROT
HgeneCOL1A1C0000786Spontaneous abortion1CTD_human
HgeneCOL1A1C0002949Aneurysm, Dissecting1CTD_human
HgeneCOL1A1C0003504Aortic Valve Insufficiency1CTD_human
HgeneCOL1A1C0004364Autoimmune Diseases1CTD_human
HgeneCOL1A1C0006663Calcinosis1CTD_human
HgeneCOL1A1C0008311Cholangitis1CTD_human
HgeneCOL1A1C0016059Fibrosis1CTD_human
HgeneCOL1A1C0018824Heart valve disease1CTD_human
HgeneCOL1A1C0020497Cortical Congenital Hyperostosis1CTD_human;ORPHANET;UNIPROT
HgeneCOL1A1C0020538Hypertensive disease1CTD_human
HgeneCOL1A1C0022548Keloid1CTD_human
HgeneCOL1A1C0027726Nephrotic Syndrome1CTD_human
HgeneCOL1A1C0029172Oral Submucous Fibrosis1CTD_human
HgeneCOL1A1C0029434Osteogenesis Imperfecta1CTD_human
HgeneCOL1A1C0149721Left Ventricular Hypertrophy1CTD_human
HgeneCOL1A1C1619692Nephrogenic Fibrosing Dermopathy1CTD_human
TgeneMMP2C0027627Neoplasm Metastasis5CTD_human
TgeneMMP2C0027626Neoplasm Invasiveness4CTD_human
TgeneMMP2C0006663Calcinosis2CTD_human
TgeneMMP2C0009404Colorectal Neoplasms2CTD_human
TgeneMMP2C0023890Liver Cirrhosis2CTD_human
TgeneMMP2C0023893Liver Cirrhosis, Experimental2CTD_human
TgeneMMP2C0027051Myocardial Infarction2CTD_human
TgeneMMP2C0376634Craniofacial Abnormalities2CTD_human
TgeneMMP2C1458155Mammary Neoplasms2CTD_human
TgeneMMP2C1850155TORG-WINCHESTER SYNDROME2CTD_human;ORPHANET;UNIPROT
TgeneMMP2C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneMMP2C0003493Aortic Diseases1CTD_human
TgeneMMP2C0003496Aortic Rupture1CTD_human
TgeneMMP2C0003873Rheumatoid Arthritis1CTD_human
TgeneMMP2C0005940Bone Diseases1CTD_human
TgeneMMP2C0005944Metabolic Bone Disorder1CTD_human
TgeneMMP2C0005967Bone neoplasms1CTD_human
TgeneMMP2C0011853Diabetes Mellitus, Experimental1CTD_human
TgeneMMP2C0011882Diabetic Neuropathies1CTD_human
TgeneMMP2C0017636Glioblastoma1CTD_human
TgeneMMP2C0020538Hypertensive disease1CTD_human
TgeneMMP2C0021368Inflammation1CTD_human
TgeneMMP2C0023283Leishmaniasis, Cutaneous1CTD_human
TgeneMMP2C0023891Liver Cirrhosis, Alcoholic1CTD_human
TgeneMMP2C0024143Lupus Nephritis1CTD_human
TgeneMMP2C0024689Mandibular Diseases1CTD_human
TgeneMMP2C0024796Marfan Syndrome1CTD_human
TgeneMMP2C0024950Maxillary Diseases1CTD_human
TgeneMMP2C0027439Nasopharyngeal Neoplasms1CTD_human
TgeneMMP2C0028433Nose Neoplasms1CTD_human
TgeneMMP2C0029172Oral Submucous Fibrosis1CTD_human
TgeneMMP2C0029445Bone necrosis1CTD_human
TgeneMMP2C0029463Osteosarcoma1CTD_human
TgeneMMP2C0034067Pulmonary Emphysema1CTD_human
TgeneMMP2C0034069Pulmonary Fibrosis1CTD_human
TgeneMMP2C0043094Weight Gain1CTD_human
TgeneMMP2C0085762Alcohol abuse1PSYGENET
TgeneMMP2C0162872Aortic Aneurysm, Thoracic1CTD_human
TgeneMMP2C1336708Testicular Germ Cell Tumor1CTD_human
TgeneMMP2C2239176Liver carcinoma1CTD_human
TgeneMMP2C2931822Nasopharyngeal carcinoma1CTD_human
TgeneMMP2C2936380Neointima1CTD_human
TgeneMMP2C2937358Cerebral Hemorrhage1CTD_human
TgeneMMP2C4277682Chemical and Drug Induced Liver Injury1CTD_human