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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:ATP6V1E1-IL1RN (FusionGDB2 ID:HG529TG3557)

Fusion Gene Summary for ATP6V1E1-IL1RN

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V1E1-IL1RN
Fusion gene ID: hg529tg3557
HgeneTgene
Gene symbol

ATP6V1E1

IL1RN

Gene ID

529

3557

Gene nameATPase H+ transporting V1 subunit E1interleukin 1 receptor antagonist
SynonymsARCL2C|ATP6E|ATP6E2|ATP6V1E|P31|Vma4DIRA|ICIL-1RA|IL-1RN|IL-1ra|IL-1ra3|IL1F3|IL1RA|IRAP|MVCD4
Cytomap('ATP6V1E1')('IL1RN')

22q11.21

2q14.1

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase subunit E 1ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1H(+)-transporting two-sector ATPase, 31kDa subunitH+-transporting ATP synthase chain E, vacuolarV-ATPase 31 kDa subunitV-ATPase subunit E 1V-ATPase, subunit Evacinterleukin-1 receptor antagonist proteinIL1 inhibitorintracellular IL-1 receptor antagonist type IIintracellular interleukin-1 receptor antagonist (icIL-1ra)type II interleukin-1 receptor antagonist
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000253413, ENST00000399796, 
ENST00000399798, ENST00000478963, 
Fusion gene scores* DoF score7 X 7 X 2=988 X 5 X 7=280
# samples 710
** MAII scorelog2(7/98*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/280*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP6V1E1 [Title/Abstract] AND IL1RN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP6V1E1(18075375)-IL1RN(113890655), # 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
TgeneIL1RN

GO:0034115

negative regulation of heterotypic cell-cell adhesion

2139180

TgeneIL1RN

GO:0051384

response to glucocorticoid

10443688

TgeneIL1RN

GO:2000660

negative regulation of interleukin-1-mediated signaling pathway

2137200|2139180



check button Fusion gene information
* 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


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Fusion Gene ORF analysis for ATP6V1E1-IL1RN

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

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 ATP6V1E1-IL1RN


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 ATP6V1E1-IL1RN


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/:18075375/:113890655)
- 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
..
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: 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 ATP6V1E1-IL1RN


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 ATP6V1E1-IL1RN


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 ATP6V1E1-IL1RN


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 ATP6V1E1-IL1RN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP6V1E1C0268355Cutis Laxa, Autosomal Recessive, Type IIA1ORPHANET
HgeneATP6V1E1C4479387CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC1CTD_human;ORPHANET;UNIPROT
HgeneATP6V1E1C4479409CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID1ORPHANET
TgeneC0020429Hyperalgesia4CTD_human
TgeneC0458247Allodynia4CTD_human
TgeneC0751211Hyperalgesia, Primary4CTD_human
TgeneC0751212Hyperalgesia, Secondary4CTD_human
TgeneC0751213Tactile Allodynia4CTD_human
TgeneC0751214Hyperalgesia, Thermal4CTD_human
TgeneC2936719Mechanical Allodynia4CTD_human
TgeneC0001973Alcoholic Intoxication, Chronic2PSYGENET
TgeneC0003873Rheumatoid Arthritis2CTD_human
TgeneC0005586Bipolar Disorder2PSYGENET
TgeneC0011206Delirium2PSYGENET
TgeneC0027051Myocardial Infarction2CTD_human
TgeneC0027540Necrosis2CTD_human
TgeneC0033578Prostatic Neoplasms2CTD_human
TgeneC0037274Dermatologic disorders2CTD_human
TgeneC0376358Malignant neoplasm of prostate2CTD_human
TgeneC2748507INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0003123Anorexia1CTD_human
TgeneC0003165Anthracosis1CTD_human
TgeneC0004096Asthma1CTD_human
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0007102Malignant tumor of colon1CTD_human
TgeneC0007786Brain Ischemia1CTD_human
TgeneC0009375Colonic Neoplasms1CTD_human
TgeneC0011991Diarrhea1CTD_human
TgeneC0013415Dysthymic Disorder1PSYGENET
TgeneC0015230Exanthema1CTD_human
TgeneC0015378Extravasation of Contrast Media1CTD_human
TgeneC0015967Fever1CTD_human
TgeneC0016059Fibrosis1CTD_human
TgeneC0018099Gout1CTD_human
TgeneC0021368Inflammation1CTD_human
TgeneC0022658Kidney Diseases1CTD_human
TgeneC0023186Learning Disorders1CTD_human
TgeneC0026769Multiple Sclerosis1CTD_human
TgeneC0027121Myositis1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0030193Pain1CTD_human
TgeneC0033687Proteinuria1CTD_human
TgeneC0034069Pulmonary Fibrosis1CTD_human
TgeneC0035021Relapsing Fever1GENOMICS_ENGLAND
TgeneC0036429Sclerosis1CTD_human
TgeneC0038220Status Epilepticus1CTD_human
TgeneC0038454Cerebrovascular accident1CTD_human
TgeneC0085129Bronchial Hyperreactivity1CTD_human
TgeneC0087031Juvenile-Onset Still Disease1CTD_human
TgeneC0158353Infectious Myositis1CTD_human
TgeneC0162557Liver Failure, Acute1CTD_human
TgeneC0234230Pain, Burning1CTD_human
TgeneC0234238Ache1CTD_human
TgeneC0234254Radiating pain1CTD_human
TgeneC0270823Petit mal status1CTD_human
TgeneC0274861Arsenic Poisoning, Inorganic1CTD_human
TgeneC0274862Nervous System, Organic Arsenic Poisoning1CTD_human
TgeneC0311335Grand Mal Status Epilepticus1CTD_human
TgeneC0311375Arsenic Poisoning1CTD_human
TgeneC0333355Inflammatory disease of mucous membrane1CTD_human
TgeneC0333641Atrophic1CTD_human
TgeneC0393734Complex Partial Status Epilepticus1CTD_human
TgeneC0458257Pain, Splitting1CTD_human
TgeneC0458259Pain, Crushing1CTD_human
TgeneC0524988Schnitzler Syndrome1CTD_human
TgeneC0544796Myositis, Proliferative1CTD_human
TgeneC0751262Adult Learning Disorders1CTD_human
TgeneC0751263Learning Disturbance1CTD_human
TgeneC0751265Learning Disabilities1CTD_human
TgeneC0751324Multiple Sclerosis, Acute Fulminating1CTD_human
TgeneC0751356Idiopathic Inflammatory Myopathies1CTD_human
TgeneC0751357Myositis, Focal1CTD_human
TgeneC0751407Pain, Migratory1CTD_human
TgeneC0751408Suffering, Physical1CTD_human
TgeneC0751522Status Epilepticus, Subclinical1CTD_human
TgeneC0751523Non-Convulsive Status Epilepticus1CTD_human
TgeneC0751524Simple Partial Status Epilepticus1CTD_human
TgeneC0751851Arsenic Encephalopathy1CTD_human
TgeneC0751852Arsenic Induced Polyneuropathy1CTD_human
TgeneC0751956Acute Cerebrovascular Accidents1CTD_human
TgeneC0917798Cerebral Ischemia1CTD_human
TgeneC1330966Developmental Academic Disorder1CTD_human
TgeneC1623038Cirrhosis1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC3495559Juvenile arthritis1CTD_human
TgeneC3714758Juvenile psoriatic arthritis1CTD_human
TgeneC3714772Recurrent fevers1GENOMICS_ENGLAND
TgeneC3860213Autoinflammatory disorder1GENOMICS_ENGLAND
TgeneC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
TgeneC4721507Alveolitis, Fibrosing1CTD_human