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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:COL1A2-MMP9 (FusionGDB2 ID:HG1278TG4318)

Fusion Gene Summary for COL1A2-MMP9

check button Fusion gene summary
Fusion gene informationFusion gene name: COL1A2-MMP9
Fusion gene ID: hg1278tg4318
HgeneTgene
Gene symbol

COL1A2

MMP9

Gene ID

1278

4318

Gene namecollagen type I alpha 2 chainmatrix metallopeptidase 9
SynonymsEDSARTH2|EDSCV|OI4CLG4B|GELB|MANDP2|MMP-9
Cytomap('COL1A2')('MMP9')

7q21.3

20q13.12

Type of geneprotein-codingprotein-coding
Descriptioncollagen 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 2epididymis secretory sperm bmatrix metalloproteinase-9macrophage gelatinasematrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)type V collagenase
Modification date2020032220200329
UniProtAcc

P08123

.
Ensembl transtripts involved in fusion geneENST00000297268, 
Fusion gene scores* DoF score47 X 49 X 10=230305 X 4 X 4=80
# samples 585
** MAII scorelog2(58/23030*10)=-5.31131770066527
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COL1A2 [Title/Abstract] AND MMP9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOL1A2(94047860)-MMP9(44637588), # samples:1
Anticipated loss of major functional domain due to fusion event.COL1A2-MMP9 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
COL1A2-MMP9 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
HgeneCOL1A2

GO:0007179

transforming growth factor beta receptor signaling pathway

17217948

HgeneCOL1A2

GO:0007266

Rho protein signal transduction

17217948

TgeneMMP9

GO:0006508

proteolysis

2551898|15863497|19022250|24164424

TgeneMMP9

GO:0034614

cellular response to reactive oxygen species

26514923

TgeneMMP9

GO:0043388

positive regulation of DNA binding

22984561

TgeneMMP9

GO:0071276

cellular response to cadmium ion

26514923

TgeneMMP9

GO:1900122

positive regulation of receptor binding

24164424

TgeneMMP9

GO:2001258

negative regulation of cation channel activity

24164424



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SARCTCGA-DX-A7ES-01ACOL1A2chr7

94047860

+MMP9chr20

44637588

+


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Fusion Gene ORF analysis for COL1A2-MMP9

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-shiftENST00000297268ENST00000372330COL1A2chr7

94047860

+MMP9chr20

44637588

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for COL1A2-MMP9


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for COL1A2-MMP9


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:94047860/:44637588)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COL1A2

P08123

.
FUNCTION: Type I collagen is a member of group I collagen (fibrillar forming collagen).FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for COL1A2-MMP9


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for COL1A2-MMP9


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


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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Related Drugs for COL1A2-MMP9


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for COL1A2-MMP9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL1A2C0268358Osteogenesis imperfecta, dominant perinatal lethal16CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A2C0268362Osteogenesis imperfecta type III (disorder)16CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A2C0268363Osteogenesis imperfecta type IV (disorder)11GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A2C0023931Lobstein Disease6ORPHANET;UNIPROT
HgeneCOL1A2C1857034Ehlers-Danlos syndrome, cardiac valvular form3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneCOL1A2C0268345EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE2ORPHANET
HgeneCOL1A2C0000786Spontaneous abortion1CTD_human
HgeneCOL1A2C0000822Abortion, Tubal1CTD_human
HgeneCOL1A2C0016059Fibrosis1CTD_human
HgeneCOL1A2C0018824Heart valve disease1CTD_human
HgeneCOL1A2C0023890Liver Cirrhosis1CTD_human
HgeneCOL1A2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCOL1A2C0029172Oral Submucous Fibrosis1CTD_human
HgeneCOL1A2C0029408Degenerative polyarthritis1CTD_human
HgeneCOL1A2C0036421Systemic Scleroderma1CTD_human
HgeneCOL1A2C0086743Osteoarthrosis Deformans1CTD_human
HgeneCOL1A2C0239946Fibrosis, Liver1CTD_human
HgeneCOL1A2C1623038Cirrhosis1CTD_human
HgeneCOL1A2C3830362Early Pregnancy Loss1CTD_human
HgeneCOL1A2C4303789Ehlers-Danlos syndrome cardiac valvular type1GENOMICS_ENGLAND
HgeneCOL1A2C4551623EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 11GENOMICS_ENGLAND
HgeneCOL1A2C4552766Miscarriage1CTD_human
TgeneC0027626Neoplasm Invasiveness7CTD_human
TgeneC0027627Neoplasm Metastasis5CTD_human
TgeneC2937358Cerebral Hemorrhage5CTD_human
TgeneC0001973Alcoholic Intoxication, Chronic3PSYGENET
TgeneC0007621Neoplastic Cell Transformation3CTD_human
TgeneC0002152Alloxan Diabetes2CTD_human
TgeneC0004096Asthma2CTD_human
TgeneC0005586Bipolar Disorder2PSYGENET
TgeneC0006663Calcinosis2CTD_human
TgeneC0011853Diabetes Mellitus, Experimental2CTD_human
TgeneC0021368Inflammation2CTD_human
TgeneC0027051Myocardial Infarction2CTD_human
TgeneC0031051Pericementitis2CTD_human
TgeneC0031099Periodontitis2CTD_human
TgeneC0036341Schizophrenia2PSYGENET
TgeneC0038433Streptozotocin Diabetes2CTD_human
TgeneC0263628Tumoral calcinosis2CTD_human
TgeneC0521174Microcalcification2CTD_human
TgeneC0003486Aortic Aneurysm1CTD_human
TgeneC0003493Aortic Diseases1CTD_human
TgeneC0003496Aortic Rupture1CTD_human
TgeneC0004114Astrocytoma1CTD_human
TgeneC0005398Cholestasis, Extrahepatic1CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0005967Bone neoplasms1CTD_human
TgeneC0006114Cerebral Edema1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007102Malignant tumor of colon1CTD_human
TgeneC0007114Malignant neoplasm of skin1CTD_human
TgeneC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneC0007137Squamous cell carcinoma1CTD_human
TgeneC0007786Brain Ischemia1CTD_human
TgeneC0009324Ulcerative Colitis1CTD_human
TgeneC0009375Colonic Neoplasms1CTD_human
TgeneC0011882Diabetic Neuropathies1CTD_human
TgeneC0017636Glioblastoma1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0020507Hyperplasia1CTD_human
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0023176Lead Poisoning1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0023895Liver diseases1CTD_human
TgeneC0024117Chronic Obstructive Airway Disease1CTD_human
TgeneC0024143Lupus Nephritis1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0024796Marfan Syndrome1CTD_human
TgeneC0026552Morphine Dependence1CTD_human
TgeneC0026766Multiple Organ Failure1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0029172Oral Submucous Fibrosis1CTD_human
TgeneC0030297Pancreatic Neoplasm1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0034067Pulmonary Emphysema1CTD_human
TgeneC0034069Pulmonary Fibrosis1CTD_human
TgeneC0034189Pyemia1CTD_human
TgeneC0035126Reperfusion Injury1CTD_human
TgeneC0035309Retinal Diseases1CTD_human
TgeneC0036690Septicemia1CTD_human
TgeneC0037286Skin Neoplasms1CTD_human
TgeneC0038358Gastric ulcer1CTD_human
TgeneC0038587Substance Withdrawal Syndrome1CTD_human
TgeneC0086189Drug Withdrawal Symptoms1CTD_human
TgeneC0086565Liver Dysfunction1CTD_human
TgeneC0087169Withdrawal Symptoms1CTD_human
TgeneC0151526Premature Birth1CTD_human
TgeneC0162871Aortic Aneurysm, Abdominal1CTD_human
TgeneC0162872Aortic Aneurysm, Thoracic1CTD_human
TgeneC0205768Subependymal Giant Cell Astrocytoma1CTD_human
TgeneC0221227Centriacinar Emphysema1CTD_human
TgeneC0238281Middle Cerebral Artery Syndrome1CTD_human
TgeneC0243026Sepsis1CTD_human
TgeneC0264393Panacinar Emphysema1CTD_human
TgeneC0271673Symmetric Diabetic Proximal Motor Neuropathy1CTD_human
TgeneC0271674Asymmetric Diabetic Proximal Motor Neuropathy1CTD_human
TgeneC0271678Diabetic Mononeuropathy1CTD_human
TgeneC0271680Diabetic Polyneuropathies1CTD_human
TgeneC0271685Diabetic Amyotrophy1CTD_human
TgeneC0271686Diabetic Autonomic Neuropathy1CTD_human
TgeneC0279530Malignant Bone Neoplasm1CTD_human
TgeneC0280783Juvenile Pilocytic Astrocytoma1CTD_human
TgeneC0280785Diffuse Astrocytoma1CTD_human
TgeneC0334579Anaplastic astrocytoma1CTD_human
TgeneC0334580Protoplasmic astrocytoma1CTD_human
TgeneC0334581Gemistocytic astrocytoma1CTD_human
TgeneC0334582Fibrillary Astrocytoma1CTD_human
TgeneC0334583Pilocytic Astrocytoma1CTD_human
TgeneC0334588Giant Cell Glioblastoma1CTD_human
TgeneC0338070Childhood Cerebral Astrocytoma1CTD_human
TgeneC0340288Stable angina1CTD_human
TgeneC0340630Aortic Aneurysm, Thoracoabdominal1CTD_human
TgeneC0346647Malignant neoplasm of pancreas1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0393835Diabetic Asymmetric Polyneuropathy1CTD_human
TgeneC0432226Metaphyseal anadysplasia1ORPHANET
TgeneC0432291Mandibuloacral dysostosis1CTD_human
TgeneC0472387Vasogenic Cerebral Edema1CTD_human
TgeneC0472388Cytotoxic Cerebral Edema1CTD_human
TgeneC0547065Mixed oligoastrocytoma1CTD_human
TgeneC0600272Morphine Abuse1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0740376Middle Cerebral Artery Thrombosis1CTD_human
TgeneC0740391Middle Cerebral Artery Occlusion1CTD_human
TgeneC0740392Infarction, Middle Cerebral Artery1CTD_human
TgeneC0741160Aortic Aneurysm, Ruptured1CTD_human
TgeneC0750935Cerebral Astrocytoma1CTD_human
TgeneC0750936Intracranial Astrocytoma1CTD_human
TgeneC0750969Vasogenic Brain Edema1CTD_human
TgeneC0750970Cytotoxic Brain Edema1CTD_human
TgeneC0751074Diabetic Neuralgia1CTD_human
TgeneC0751845Middle Cerebral Artery Embolus1CTD_human
TgeneC0751846Left Middle Cerebral Artery Infarction1CTD_human
TgeneC0751847Embolic Infarction, Middle Cerebral Artery1CTD_human
TgeneC0751848Thrombotic Infarction, Middle Cerebral Artery1CTD_human
TgeneC0751849Right Middle Cerebral Artery Infarction1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC0917798Cerebral Ischemia1CTD_human
TgeneC0948089Acute Coronary Syndrome1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1527303Chronic Airflow Obstruction1CTD_human
TgeneC1527311Brain Edema1CTD_human
TgeneC1621958Glioblastoma Multiforme1CTD_human
TgeneC1704230Grade I Astrocytoma1CTD_human
TgeneC1719672Severe Sepsis1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC2350878Focal Emphysema1CTD_human
TgeneC2751322Metaphyseal Anadysplasia 21CTD_human;GENOMICS_ENGLAND
TgeneC2936380Neointima1CTD_human
TgeneC2936381Neointima Formation1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human
TgeneC4721507Alveolitis, Fibrosing1CTD_human
TgeneC4721845Marfan Syndrome, Type I1CTD_human