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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:IL1RN-COL3A1 (FusionGDB2 ID:HG3557TG1281)

Fusion Gene Summary for IL1RN-COL3A1

check button Fusion gene summary
Fusion gene informationFusion gene name: IL1RN-COL3A1
Fusion gene ID: hg3557tg1281
HgeneTgene
Gene symbol

IL1RN

COL3A1

Gene ID

3557

1281

Gene nameinterleukin 1 receptor antagonistcollagen type III alpha 1 chain
SynonymsDIRA|ICIL-1RA|IL-1RN|IL-1ra|IL-1ra3|IL1F3|IL1RA|IRAP|MVCD4EDS4A|EDSVASC|PMGEDSV
Cytomap('IL1RN')('COL3A1')

2q14.1

2q32.2

Type of geneprotein-codingprotein-coding
Descriptioninterleukin-1 receptor antagonist proteinIL1 inhibitorintracellular IL-1 receptor antagonist type IIintracellular interleukin-1 receptor antagonist (icIL-1ra)type II interleukin-1 receptor antagonistcollagen alpha-1(III) chainEhlers-Danlos syndrome type IV, autosomal dominantalpha-1 type III collagenalpha1 (III) collagencollagen, fetalcollagen, type III, alpha 1
Modification date2020032920200313
UniProtAcc.

P02461

Ensembl transtripts involved in fusion geneENST00000361779, ENST00000409052, 
ENST00000259206, ENST00000354115, 
ENST00000409930, ENST00000465812, 
Fusion gene scores* DoF score8 X 8 X 4=25634 X 39 X 8=10608
# samples 843
** MAII scorelog2(8/256*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(43/10608*10)=-4.62467221052313
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IL1RN [Title/Abstract] AND COL3A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIL1RN(113885287)-COL3A1(189859021), # samples:1
Anticipated loss of major functional domain due to fusion event.IL1RN-COL3A1 seems lost the major protein functional domain in Tgene partner, which is a CGC 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
HgeneIL1RN

GO:0034115

negative regulation of heterotypic cell-cell adhesion

2139180

HgeneIL1RN

GO:0051384

response to glucocorticoid

10443688

HgeneIL1RN

GO:2000660

negative regulation of interleukin-1-mediated signaling pathway

2137200|2139180

TgeneCOL3A1

GO:0007160

cell-matrix adhesion

16912226

TgeneCOL3A1

GO:0007179

transforming growth factor beta receptor signaling pathway

16360482

TgeneCOL3A1

GO:0009314

response to radiation

14736764

TgeneCOL3A1

GO:0018149

peptide cross-linking

16754721

TgeneCOL3A1

GO:0034097

response to cytokine

9076960|16360482

TgeneCOL3A1

GO:0042060

wound healing

1466622



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
ChimerDB4HNSCTCGA-BA-5557IL1RNchr2

113885287

+COL3A1chr2

189859021

+


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Fusion Gene ORF analysis for IL1RN-COL3A1

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
5UTR-3CDSENST00000361779ENST00000304636IL1RNchr2

113885287

+COL3A1chr2

189859021

+
5UTR-3CDSENST00000361779ENST00000317840IL1RNchr2

113885287

+COL3A1chr2

189859021

+
5UTR-3CDSENST00000409052ENST00000304636IL1RNchr2

113885287

+COL3A1chr2

189859021

+
5UTR-3CDSENST00000409052ENST00000317840IL1RNchr2

113885287

+COL3A1chr2

189859021

+
Frame-shiftENST00000259206ENST00000304636IL1RNchr2

113885287

+COL3A1chr2

189859021

+
Frame-shiftENST00000259206ENST00000317840IL1RNchr2

113885287

+COL3A1chr2

189859021

+
Frame-shiftENST00000354115ENST00000304636IL1RNchr2

113885287

+COL3A1chr2

189859021

+
Frame-shiftENST00000354115ENST00000317840IL1RNchr2

113885287

+COL3A1chr2

189859021

+
Frame-shiftENST00000409930ENST00000304636IL1RNchr2

113885287

+COL3A1chr2

189859021

+
Frame-shiftENST00000409930ENST00000317840IL1RNchr2

113885287

+COL3A1chr2

189859021

+
intron-3CDSENST00000465812ENST00000304636IL1RNchr2

113885287

+COL3A1chr2

189859021

+
intron-3CDSENST00000465812ENST00000317840IL1RNchr2

113885287

+COL3A1chr2

189859021

+

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 IL1RN-COL3A1


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 IL1RN-COL3A1


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/:113885287/:189859021)
- 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: 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}.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.

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 IL1RN-COL3A1


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 IL1RN-COL3A1


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 IL1RN-COL3A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCOL3A1P02461DB00048Collagenase clostridium histolyticumBinderBiotechApproved|Investigational

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Related Diseases for IL1RN-COL3A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIL1RNC0020429Hyperalgesia4CTD_human
HgeneIL1RNC0458247Allodynia4CTD_human
HgeneIL1RNC0751211Hyperalgesia, Primary4CTD_human
HgeneIL1RNC0751212Hyperalgesia, Secondary4CTD_human
HgeneIL1RNC0751213Tactile Allodynia4CTD_human
HgeneIL1RNC0751214Hyperalgesia, Thermal4CTD_human
HgeneIL1RNC2936719Mechanical Allodynia4CTD_human
HgeneIL1RNC0001973Alcoholic Intoxication, Chronic2PSYGENET
HgeneIL1RNC0003873Rheumatoid Arthritis2CTD_human
HgeneIL1RNC0005586Bipolar Disorder2PSYGENET
HgeneIL1RNC0011206Delirium2PSYGENET
HgeneIL1RNC0027051Myocardial Infarction2CTD_human
HgeneIL1RNC0027540Necrosis2CTD_human
HgeneIL1RNC0033578Prostatic Neoplasms2CTD_human
HgeneIL1RNC0037274Dermatologic disorders2CTD_human
HgeneIL1RNC0376358Malignant neoplasm of prostate2CTD_human
HgeneIL1RNC2748507INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneIL1RNC0003123Anorexia1CTD_human
HgeneIL1RNC0003165Anthracosis1CTD_human
HgeneIL1RNC0004096Asthma1CTD_human
HgeneIL1RNC0004352Autistic Disorder1CTD_human
HgeneIL1RNC0007102Malignant tumor of colon1CTD_human
HgeneIL1RNC0007786Brain Ischemia1CTD_human
HgeneIL1RNC0009375Colonic Neoplasms1CTD_human
HgeneIL1RNC0011991Diarrhea1CTD_human
HgeneIL1RNC0013415Dysthymic Disorder1PSYGENET
HgeneIL1RNC0015230Exanthema1CTD_human
HgeneIL1RNC0015378Extravasation of Contrast Media1CTD_human
HgeneIL1RNC0015967Fever1CTD_human
HgeneIL1RNC0016059Fibrosis1CTD_human
HgeneIL1RNC0018099Gout1CTD_human
HgeneIL1RNC0021368Inflammation1CTD_human
HgeneIL1RNC0022658Kidney Diseases1CTD_human
HgeneIL1RNC0023186Learning Disorders1CTD_human
HgeneIL1RNC0026769Multiple Sclerosis1CTD_human
HgeneIL1RNC0027121Myositis1CTD_human
HgeneIL1RNC0027626Neoplasm Invasiveness1CTD_human
HgeneIL1RNC0030193Pain1CTD_human
HgeneIL1RNC0033687Proteinuria1CTD_human
HgeneIL1RNC0034069Pulmonary Fibrosis1CTD_human
HgeneIL1RNC0035021Relapsing Fever1GENOMICS_ENGLAND
HgeneIL1RNC0036429Sclerosis1CTD_human
HgeneIL1RNC0038220Status Epilepticus1CTD_human
HgeneIL1RNC0038454Cerebrovascular accident1CTD_human
HgeneIL1RNC0085129Bronchial Hyperreactivity1CTD_human
HgeneIL1RNC0087031Juvenile-Onset Still Disease1CTD_human
HgeneIL1RNC0158353Infectious Myositis1CTD_human
HgeneIL1RNC0162557Liver Failure, Acute1CTD_human
HgeneIL1RNC0234230Pain, Burning1CTD_human
HgeneIL1RNC0234238Ache1CTD_human
HgeneIL1RNC0234254Radiating pain1CTD_human
HgeneIL1RNC0270823Petit mal status1CTD_human
HgeneIL1RNC0274861Arsenic Poisoning, Inorganic1CTD_human
HgeneIL1RNC0274862Nervous System, Organic Arsenic Poisoning1CTD_human
HgeneIL1RNC0311335Grand Mal Status Epilepticus1CTD_human
HgeneIL1RNC0311375Arsenic Poisoning1CTD_human
HgeneIL1RNC0333355Inflammatory disease of mucous membrane1CTD_human
HgeneIL1RNC0333641Atrophic1CTD_human
HgeneIL1RNC0393734Complex Partial Status Epilepticus1CTD_human
HgeneIL1RNC0458257Pain, Splitting1CTD_human
HgeneIL1RNC0458259Pain, Crushing1CTD_human
HgeneIL1RNC0524988Schnitzler Syndrome1CTD_human
HgeneIL1RNC0544796Myositis, Proliferative1CTD_human
HgeneIL1RNC0751262Adult Learning Disorders1CTD_human
HgeneIL1RNC0751263Learning Disturbance1CTD_human
HgeneIL1RNC0751265Learning Disabilities1CTD_human
HgeneIL1RNC0751324Multiple Sclerosis, Acute Fulminating1CTD_human
HgeneIL1RNC0751356Idiopathic Inflammatory Myopathies1CTD_human
HgeneIL1RNC0751357Myositis, Focal1CTD_human
HgeneIL1RNC0751407Pain, Migratory1CTD_human
HgeneIL1RNC0751408Suffering, Physical1CTD_human
HgeneIL1RNC0751522Status Epilepticus, Subclinical1CTD_human
HgeneIL1RNC0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneIL1RNC0751524Simple Partial Status Epilepticus1CTD_human
HgeneIL1RNC0751851Arsenic Encephalopathy1CTD_human
HgeneIL1RNC0751852Arsenic Induced Polyneuropathy1CTD_human
HgeneIL1RNC0751956Acute Cerebrovascular Accidents1CTD_human
HgeneIL1RNC0917798Cerebral Ischemia1CTD_human
HgeneIL1RNC1330966Developmental Academic Disorder1CTD_human
HgeneIL1RNC1623038Cirrhosis1CTD_human
HgeneIL1RNC2239176Liver carcinoma1CTD_human
HgeneIL1RNC3495559Juvenile arthritis1CTD_human
HgeneIL1RNC3714758Juvenile psoriatic arthritis1CTD_human
HgeneIL1RNC3714772Recurrent fevers1GENOMICS_ENGLAND
HgeneIL1RNC3860213Autoinflammatory disorder1GENOMICS_ENGLAND
HgeneIL1RNC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneIL1RNC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
HgeneIL1RNC4721507Alveolitis, Fibrosing1CTD_human
TgeneC0268338Ehlers-Danlos Syndrome, Type IV43CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC4707243Familial thoracic aortic aneurysm and aortic dissection10CLINGEN;GENOMICS_ENGLAND
TgeneC0023890Liver Cirrhosis5CTD_human
TgeneC0239946Fibrosis, Liver5CTD_human
TgeneC0023893Liver Cirrhosis, Experimental2CTD_human
TgeneC0162871Aortic Aneurysm, Abdominal2ORPHANET
TgeneC1853365AORTIC ANEURYSM, FAMILIAL ABDOMINAL 12ORPHANET
TgeneC2697932Loeys-Dietz Syndrome2GENOMICS_ENGLAND
TgeneC0003504Aortic Valve Insufficiency1CTD_human
TgeneC0005398Cholestasis, Extrahepatic1CTD_human
TgeneC0015695Fatty Liver1CTD_human
TgeneC0016059Fibrosis1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0020443Hypercholesterolemia1CTD_human
TgeneC0020456Hyperglycemia1CTD_human
TgeneC0020459Hyperinsulinism1CTD_human
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0022548Keloid1CTD_human
TgeneC0023891Liver Cirrhosis, Alcoholic1CTD_human
TgeneC0023895Liver diseases1CTD_human
TgeneC0027719Nephrosclerosis1CTD_human
TgeneC0034069Pulmonary Fibrosis1CTD_human
TgeneC0036341Schizophrenia1CTD_human
TgeneC0038454Cerebrovascular accident1GENOMICS_ENGLAND
TgeneC0041956Ureteral obstruction1CTD_human
TgeneC0086565Liver Dysfunction1CTD_human
TgeneC0149721Left Ventricular Hypertrophy1CTD_human
TgeneC0238288Muscular Dystrophy, Facioscapulohumeral1CTD_human
TgeneC0238590Acrogeria1ORPHANET
TgeneC0338586Vertebral Artery Dissection1GENOMICS_ENGLAND
TgeneC0406584Acrogeria, gottron type1ORPHANET
TgeneC0553692Brain hemorrhage1GENOMICS_ENGLAND
TgeneC0553980Endomyocardial Fibrosis1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC0948008Ischemic stroke1GENOMICS_ENGLAND
TgeneC1257963Endogenous Hyperinsulinism1CTD_human
TgeneC1257964Exogenous Hyperinsulinism1CTD_human
TgeneC1257965Compensatory Hyperinsulinemia1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1623038Cirrhosis1CTD_human
TgeneC1855520Hyperglycemia, Postprandial1CTD_human
TgeneC1862932ANEURYSM, INTRACRANIAL BERRY, 1 (disorder)1ORPHANET
TgeneC2711227Steatohepatitis1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC4721507Alveolitis, Fibrosing1CTD_human