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Center for Computational Systems Medicine
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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-FTL (FusionGDB2 ID:39325)

Fusion Gene Summary for IL1RN-FTL

check button Fusion gene summary
Fusion gene informationFusion gene name: IL1RN-FTL
Fusion gene ID: 39325
HgeneTgene
Gene symbol

IL1RN

FTL

Gene ID

3557

2512

Gene nameinterleukin 1 receptor antagonistferritin light chain
SynonymsDIRA|ICIL-1RA|IL-1RN|IL-1ra|IL-1ra3|IL1F3|IL1RA|IRAP|MVCD4LFTD|NBIA3
Cytomap

2q14.1

19q13.33

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 antagonistferritin light chainepididymis secretory sperm binding proteinferritin L subunitferritin L-chainferritin light polypeptide-like 3ferritin, light polypeptide
Modification date2020032920200329
UniProtAcc

P18510

P02792

Ensembl transtripts involved in fusion geneENST00000465812, ENST00000409052, 
ENST00000361779, ENST00000259206, 
ENST00000354115, ENST00000409930, 
ENST00000331825, 
Fusion gene scores* DoF score8 X 8 X 4=25625 X 21 X 8=4200
# samples 828
** MAII scorelog2(8/256*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(28/4200*10)=-3.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointIL1RN(113877705)-FTL(49469537), # samples:1
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
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


check buttonFusion gene breakpoints across IL1RN (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across FTL (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4LUSCTCGA-56-7731IL1RNchr2

113877705

+FTLchr19

49469537

+


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Fusion Gene ORF analysis for IL1RN-FTL

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
intron-3CDSENST00000465812ENST00000331825IL1RNchr2

113877705

+FTLchr19

49469537

+
5UTR-3CDSENST00000409052ENST00000331825IL1RNchr2

113877705

+FTLchr19

49469537

+
intron-3CDSENST00000361779ENST00000331825IL1RNchr2

113877705

+FTLchr19

49469537

+
Frame-shiftENST00000259206ENST00000331825IL1RNchr2

113877705

+FTLchr19

49469537

+
intron-3CDSENST00000354115ENST00000331825IL1RNchr2

113877705

+FTLchr19

49469537

+
intron-3CDSENST00000409930ENST00000331825IL1RNchr2

113877705

+FTLchr19

49469537

+

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-FTL


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)
IL1RNchr2113877705+FTLchr1949469537+0.0017986790.99820125
IL1RNchr2113877705+FTLchr1949469537+0.0017986790.99820125

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for IL1RN-FTL


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IL1RN

P18510

FTL

P02792

FUNCTION: Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure. {ECO:0000269|PubMed:7775431}.FUNCTION: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). {ECO:0000250, ECO:0000269|PubMed:19923220, ECO:0000269|PubMed:20159981}.

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-FTL


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-FTL


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-FTL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneIL1RNP18510DB06372RilonaceptBinderBiotechApproved|Investigational
HgeneIL1RNP18510DB06372RilonaceptBinderBiotechApproved|Investigational
HgeneIL1RNP18510DB06372RilonaceptBinderBiotechApproved|Investigational
TgeneFTLP02792DB09517Sodium ferric gluconate complexBindingSmall moleculeApproved
TgeneFTLP02792DB13995Ferric pyrophosphate citrateBinderSmall moleculeApproved|Investigational
TgeneFTLP02792DB00893Iron DextranOtherSmall moleculeApproved|Vet_approved

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Related Diseases for IL1RN-FTL


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
TgeneFTLC1833213Hyperferritinemia, hereditary, with congenital cataracts3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFTLC1853578Neuroferritinopathy3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFTLC3810090L-FERRITIN DEFICIENCY2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneFTLC0011573Endogenous depression1CTD_human
TgeneFTLC0011581Depressive disorder1CTD_human
TgeneFTLC0012715Iron Metabolism Disorders1CTD_human
TgeneFTLC0022548Keloid1CTD_human
TgeneFTLC0025193Melancholia1CTD_human
TgeneFTLC0026650Movement Disorders1GENOMICS_ENGLAND
TgeneFTLC0027626Neoplasm Invasiveness1CTD_human
TgeneFTLC0027627Neoplasm Metastasis1CTD_human
TgeneFTLC0028754Obesity1CTD_human
TgeneFTLC0029408Degenerative polyarthritis1CTD_human
TgeneFTLC0033975Psychotic Disorders1PSYGENET
TgeneFTLC0041696Unipolar Depression1CTD_human
TgeneFTLC0086133Depressive Syndrome1CTD_human
TgeneFTLC0086743Osteoarthrosis Deformans1CTD_human
TgeneFTLC0282126Depression, Neurotic1CTD_human
TgeneFTLC0349204Nonorganic psychosis1PSYGENET
TgeneFTLC0751870Heredodegenerative Disorders, Nervous System1CTD_human
TgeneFTLC4707880Genetic hyperferritinemia without iron overload1ORPHANET