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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:COL3A1-PLAT (FusionGDB2 ID:HG1281TG5327)

Fusion Gene Summary for COL3A1-PLAT

check button Fusion gene summary
Fusion gene informationFusion gene name: COL3A1-PLAT
Fusion gene ID: hg1281tg5327
HgeneTgene
Gene symbol

COL3A1

PLAT

Gene ID

1281

5327

Gene namecollagen type III alpha 1 chainplasminogen activator, tissue type
SynonymsEDS4A|EDSVASC|PMGEDSVT-PA|TPA
Cytomap('COL3A1')('PLAT')

2q32.2

8p11.21

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(III) chainEhlers-Danlos syndrome type IV, autosomal dominantalpha-1 type III collagenalpha1 (III) collagencollagen, fetalcollagen, type III, alpha 1tissue-type plasminogen activatoralteplaseplasminogen/activator kringlereteplaset-plasminogen activator
Modification date2020031320200313
UniProtAcc

P02461

.
Ensembl transtripts involved in fusion geneENST00000304636, ENST00000317840, 
Fusion gene scores* DoF score46 X 40 X 15=2760028 X 6 X 12=2016
# samples 5626
** MAII scorelog2(56/27600*10)=-5.62309762960793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(26/2016*10)=-2.95491211047146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COL3A1 [Title/Abstract] AND PLAT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOL3A1(189877472)-PLAT(42051245), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneCOL3A1

GO:0007160

cell-matrix adhesion

16912226

HgeneCOL3A1

GO:0007179

transforming growth factor beta receptor signaling pathway

16360482

HgeneCOL3A1

GO:0009314

response to radiation

14736764

HgeneCOL3A1

GO:0018149

peptide cross-linking

16754721

HgeneCOL3A1

GO:0034097

response to cytokine

9076960|16360482

HgeneCOL3A1

GO:0042060

wound healing

1466622

TgenePLAT

GO:0031639

plasminogen activation

12694198|17849409|24196407

TgenePLAT

GO:0045861

negative regulation of proteolysis

1695900



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
ChimerDB4COADTCGA-A6-5664-01ACOL3A1chr2

189877472

-PLATchr8

42051245

-
ChimerDB4TGCTTCGA-2G-AALZ-01ACOL3A1chr2

189877472

-PLATchr8

42051245

-


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Fusion Gene ORF analysis for COL3A1-PLAT

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
5CDS-intronENST00000304636ENST00000220809COL3A1chr2

189877472

-PLATchr8

42051245

-
5CDS-intronENST00000304636ENST00000270189COL3A1chr2

189877472

-PLATchr8

42051245

-
5CDS-intronENST00000304636ENST00000352041COL3A1chr2

189877472

-PLATchr8

42051245

-
5CDS-intronENST00000304636ENST00000429089COL3A1chr2

189877472

-PLATchr8

42051245

-
5CDS-intronENST00000304636ENST00000429710COL3A1chr2

189877472

-PLATchr8

42051245

-
5CDS-intronENST00000304636ENST00000519510COL3A1chr2

189877472

-PLATchr8

42051245

-
5CDS-intronENST00000304636ENST00000524009COL3A1chr2

189877472

-PLATchr8

42051245

-
5CDS-intronENST00000317840ENST00000220809COL3A1chr2

189877472

-PLATchr8

42051245

-
5CDS-intronENST00000317840ENST00000270189COL3A1chr2

189877472

-PLATchr8

42051245

-
5CDS-intronENST00000317840ENST00000352041COL3A1chr2

189877472

-PLATchr8

42051245

-
5CDS-intronENST00000317840ENST00000429089COL3A1chr2

189877472

-PLATchr8

42051245

-
5CDS-intronENST00000317840ENST00000429710COL3A1chr2

189877472

-PLATchr8

42051245

-
5CDS-intronENST00000317840ENST00000519510COL3A1chr2

189877472

-PLATchr8

42051245

-
5CDS-intronENST00000317840ENST00000524009COL3A1chr2

189877472

-PLATchr8

42051245

-

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 COL3A1-PLAT


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 COL3A1-PLAT


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/:189877472/:42051245)
- 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
COL3A1

P02461

.
FUNCTION: Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.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 COL3A1-PLAT


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 COL3A1-PLAT


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 COL3A1-PLAT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCOL3A1P02461DB00048Collagenase clostridium histolyticumBinderBiotechApproved|Investigational

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Related Diseases for COL3A1-PLAT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL3A1C0268338Ehlers-Danlos Syndrome, Type IV43CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCOL3A1C4707243Familial thoracic aortic aneurysm and aortic dissection10CLINGEN;GENOMICS_ENGLAND
HgeneCOL3A1C0023890Liver Cirrhosis5CTD_human
HgeneCOL3A1C0239946Fibrosis, Liver5CTD_human
HgeneCOL3A1C0023893Liver Cirrhosis, Experimental2CTD_human
HgeneCOL3A1C0162871Aortic Aneurysm, Abdominal2ORPHANET
HgeneCOL3A1C1853365AORTIC ANEURYSM, FAMILIAL ABDOMINAL 12ORPHANET
HgeneCOL3A1C2697932Loeys-Dietz Syndrome2GENOMICS_ENGLAND
HgeneCOL3A1C0003504Aortic Valve Insufficiency1CTD_human
HgeneCOL3A1C0005398Cholestasis, Extrahepatic1CTD_human
HgeneCOL3A1C0015695Fatty Liver1CTD_human
HgeneCOL3A1C0016059Fibrosis1CTD_human
HgeneCOL3A1C0019193Hepatitis, Toxic1CTD_human
HgeneCOL3A1C0020443Hypercholesterolemia1CTD_human
HgeneCOL3A1C0020456Hyperglycemia1CTD_human
HgeneCOL3A1C0020459Hyperinsulinism1CTD_human
HgeneCOL3A1C0020538Hypertensive disease1CTD_human
HgeneCOL3A1C0022548Keloid1CTD_human
HgeneCOL3A1C0023891Liver Cirrhosis, Alcoholic1CTD_human
HgeneCOL3A1C0023895Liver diseases1CTD_human
HgeneCOL3A1C0027719Nephrosclerosis1CTD_human
HgeneCOL3A1C0034069Pulmonary Fibrosis1CTD_human
HgeneCOL3A1C0036341Schizophrenia1CTD_human
HgeneCOL3A1C0038454Cerebrovascular accident1GENOMICS_ENGLAND
HgeneCOL3A1C0041956Ureteral obstruction1CTD_human
HgeneCOL3A1C0086565Liver Dysfunction1CTD_human
HgeneCOL3A1C0149721Left Ventricular Hypertrophy1CTD_human
HgeneCOL3A1C0238288Muscular Dystrophy, Facioscapulohumeral1CTD_human
HgeneCOL3A1C0238590Acrogeria1ORPHANET
HgeneCOL3A1C0338586Vertebral Artery Dissection1GENOMICS_ENGLAND
HgeneCOL3A1C0406584Acrogeria, gottron type1ORPHANET
HgeneCOL3A1C0553692Brain hemorrhage1GENOMICS_ENGLAND
HgeneCOL3A1C0553980Endomyocardial Fibrosis1CTD_human
HgeneCOL3A1C0860207Drug-Induced Liver Disease1CTD_human
HgeneCOL3A1C0948008Ischemic stroke1GENOMICS_ENGLAND
HgeneCOL3A1C1257963Endogenous Hyperinsulinism1CTD_human
HgeneCOL3A1C1257964Exogenous Hyperinsulinism1CTD_human
HgeneCOL3A1C1257965Compensatory Hyperinsulinemia1CTD_human
HgeneCOL3A1C1262760Hepatitis, Drug-Induced1CTD_human
HgeneCOL3A1C1623038Cirrhosis1CTD_human
HgeneCOL3A1C1855520Hyperglycemia, Postprandial1CTD_human
HgeneCOL3A1C1862932ANEURYSM, INTRACRANIAL BERRY, 1 (disorder)1ORPHANET
HgeneCOL3A1C2711227Steatohepatitis1CTD_human
HgeneCOL3A1C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneCOL3A1C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneCOL3A1C4279912Chemically-Induced Liver Toxicity1CTD_human
HgeneCOL3A1C4721507Alveolitis, Fibrosing1CTD_human
TgeneC0038454Cerebrovascular accident58CTD_human
TgeneC0751956Acute Cerebrovascular Accidents58CTD_human
TgeneC0027051Myocardial Infarction33CTD_human
TgeneC0007786Brain Ischemia24CTD_human
TgeneC0917798Cerebral Ischemia24CTD_human
TgeneC2937358Cerebral Hemorrhage20CTD_human
TgeneC0151699Intracranial Hemorrhage14CTD_human
TgeneC0553692Brain hemorrhage14CTD_human
TgeneC0751893Posterior Fossa Hemorrhage14CTD_human
TgeneC0034065Pulmonary Embolism9CTD_human
TgeneC0524702Pulmonary Thromboembolisms9CTD_human
TgeneC0019080Hemorrhage8CTD_human
TgeneC0007785Cerebral Infarction6CTD_human
TgeneC0751010Cerebral Infarction, Left Hemisphere6CTD_human
TgeneC0751011Cerebral Infarction, Right Hemisphere6CTD_human
TgeneC0751012Anterior Choroidal Artery Infarction6CTD_human
TgeneC0751014Subcortical Infarction6CTD_human
TgeneC0887799Posterior Choroidal Artery Infarction6CTD_human
TgeneC0040053Thrombosis4CTD_human
TgeneC0087086Thrombus4CTD_human
TgeneC0238281Middle Cerebral Artery Syndrome4CTD_human
TgeneC0740376Middle Cerebral Artery Thrombosis4CTD_human
TgeneC0740391Middle Cerebral Artery Occlusion4CTD_human
TgeneC0740392Infarction, Middle Cerebral Artery4CTD_human
TgeneC0751845Middle Cerebral Artery Embolus4CTD_human
TgeneC0751846Left Middle Cerebral Artery Infarction4CTD_human
TgeneC0751847Embolic Infarction, Middle Cerebral Artery4CTD_human
TgeneC0751848Thrombotic Infarction, Middle Cerebral Artery4CTD_human
TgeneC0751849Right Middle Cerebral Artery Infarction4CTD_human
TgeneC0002994Angioedema3CTD_human
TgeneC0010072Coronary Thrombosis3CTD_human
TgeneC0042487Venous Thrombosis3CTD_human
TgeneC0149871Deep Vein Thrombosis3CTD_human
TgeneC0007781Intracranial Embolism and Thrombosis2CTD_human
TgeneC0877172Hematoma, Epidural, Spinal2CTD_human
TgeneC0877855Cerebral Embolism and Thrombosis2CTD_human
TgeneC0936247Brain Embolism and Thrombosis2CTD_human
TgeneC0001125Acidosis, Lactic1CTD_human
TgeneC0001883Airway Obstruction1CTD_human
TgeneC0003129Anoxemia1CTD_human
TgeneC0003130Anoxia1CTD_human
TgeneC0003537Aphasia1CTD_human
TgeneC0003546Aphasia, Acquired1CTD_human
TgeneC0003838Arterial Occlusive Diseases1CTD_human
TgeneC0004153Atherosclerosis1CTD_human
TgeneC0004604Back Pain1CTD_human
TgeneC0004610Bacteremia1CTD_human
TgeneC0007177Cardiac Tamponade1CTD_human
TgeneC0008301Choking1CTD_human
TgeneC0013922Embolism1CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human
TgeneC0018946Hematoma, Subdural1CTD_human
TgeneC0018989Hemiparesis1CTD_human
TgeneC0019064Hemopericardium1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0020649Hypotension1CTD_human
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0024031Low Back Pain1CTD_human
TgeneC0025309Meningoencephalitis1CTD_human
TgeneC0027746Nerve Degeneration1CTD_human
TgeneC0030552Paresis1CTD_human
TgeneC0031039Pericardial effusion1CTD_human
TgeneC0035126Reperfusion Injury1CTD_human
TgeneC0035229Respiratory Insufficiency1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0036980Shock, Cardiogenic1CTD_human
TgeneC0037926Compression of spinal cord1CTD_human
TgeneC0040038Thromboembolism1CTD_human
TgeneC0079102Cerebral Thrombosis1CTD_human
TgeneC0085307Embolism and Thrombosis1CTD_human
TgeneC0149504Encephalopathy, Toxic1CTD_human
TgeneC0149649Cholesterol Embolism1CTD_human
TgeneC0154659Toxic Encephalitis1CTD_human
TgeneC0162820Dermatitis, Allergic Contact1CTD_human
TgeneC0234462Aphasia, Ageusic1CTD_human
TgeneC0234469Aphasia, Global1CTD_human
TgeneC0234472Aphasia, Functional1CTD_human
TgeneC0234474Aphasia, Graphomotor1CTD_human
TgeneC0234476Aphasia, Intellectual1CTD_human
TgeneC0234482Aphasia, Semantic1CTD_human
TgeneC0234484Aphasia, Syntactical1CTD_human
TgeneC0235032Neurotoxicity Syndromes1CTD_human
TgeneC0235063Respiratory Depression1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0236733Amphetamine-Related Disorders1CTD_human
TgeneC0236804Amphetamine Addiction1CTD_human
TgeneC0236807Amphetamine Abuse1CTD_human
TgeneC0242184Hypoxia1CTD_human
TgeneC0242426Chylopericardium1CTD_human
TgeneC0242698Ventricular Dysfunction, Left1CTD_human
TgeneC0265110Cerebral Vasospasm1CTD_human
TgeneC0270795Monoparesis1CTD_human
TgeneC0338457Aphasia, Progressive1CTD_human
TgeneC0393953Anterior Cerebral Circulation Infarction1CTD_human
TgeneC0423682Low Back Pain, Mechanical1CTD_human
TgeneC0423689Low Back Pain, Posterior Compartment1CTD_human
TgeneC0438921Back Pain without Radiation1CTD_human
TgeneC0454576Aphasia, Mixed1CTD_human
TgeneC0577660Low Back Pain, Postural1CTD_human
TgeneC0700292Hypoxemia1CTD_human
TgeneC0740363Back Pain with Radiation1CTD_human
TgeneC0742803Conus Medullaris Syndrome1CTD_human
TgeneC0750917Aphasia, Auditory Discriminatory1CTD_human
TgeneC0750918Aphasia, Commisural1CTD_human
TgeneC0750919Aphasia, Post-Ictal1CTD_human
TgeneC0750920Aphasia, Post-Traumatic1CTD_human
TgeneC0750921Dejerine-Lichtheim Phenomenon1CTD_human
TgeneC0750949Vertebrogenic Pain Syndrome1CTD_human
TgeneC0751409Upper Extremity Paresis1CTD_human
TgeneC0751410Lower Extremity Paresis1CTD_human
TgeneC0751648Recurrent Low Back Pain1CTD_human
TgeneC0751895Vasospasm, Intracranial1CTD_human
TgeneC0751952Anterior Circulation Brain Infarction1CTD_human
TgeneC0751953Brain Infarction, Posterior Circulation1CTD_human
TgeneC0751954Venous Infarction, Brain1CTD_human
TgeneC0751955Brain Infarction1CTD_human
TgeneC0752143Intracranial Thrombosis1CTD_human
TgeneC0752144Brain Thrombosis1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC0936261Brain Thrombus1CTD_human
TgeneC0936263Cerebral Thrombus1CTD_human
TgeneC0973461Dysphasia1CTD_human
TgeneC1145670Respiratory Failure1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1563937Atherogenesis1CTD_human
TgeneC1704212Embolus1CTD_human
TgeneC1861172Venous Thromboembolism1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human