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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:IL1RAPL1-HP (FusionGDB2 ID:HG11141TG3240)

Fusion Gene Summary for IL1RAPL1-HP

check button Fusion gene summary
Fusion gene informationFusion gene name: IL1RAPL1-HP
Fusion gene ID: hg11141tg3240
HgeneTgene
Gene symbol

IL1RAPL1

HP

Gene ID

11141

3240

Gene nameinterleukin 1 receptor accessory protein like 1haptoglobin
SynonymsIL-1-RAPL-1|IL-1RAPL-1|IL1R8|IL1RAPL|IL1RAPL-1|MRX10|MRX21|MRX34|OPHN4|TIGIRR-2BP|HP2ALPHA2|HPA1S
Cytomap('IL1RAPL1')('HP')

Xp21.3-p21.2

16q22.2

Type of geneprotein-codingprotein-coding
Descriptioninterleukin-1 receptor accessory protein-like 1X-linked interleukin-1 receptor accessory protein-like 1interleukin 1 receptor-8mental retardation, X-linked 10oligophrenin-4three immunoglobulin domain-containing IL-1 receptor-related 2haptoglobinbinding peptidehaptoglobin alpha(1S)-betahaptoglobin alpha(2FS)-betahaptoglobin, alpha polypeptidehaptoglobin, beta polypeptidezonulin
Modification date2020031320200313
UniProtAcc.

P00738

Ensembl transtripts involved in fusion geneENST00000302196, ENST00000378993, 
Fusion gene scores* DoF score11 X 12 X 4=52814 X 11 X 3=462
# samples 1213
** MAII scorelog2(12/528*10)=-2.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/462*10)=-1.8293812283876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IL1RAPL1 [Title/Abstract] AND HP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIL1RAPL1(29941404)-HP(72094024), # 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
HgeneIL1RAPL1

GO:0045920

negative regulation of exocytosis

12783849

HgeneIL1RAPL1

GO:0099175

regulation of postsynapse organization

21926414

HgeneIL1RAPL1

GO:0099545

trans-synaptic signaling by trans-synaptic complex

21926414

HgeneIL1RAPL1

GO:1905606

regulation of presynapse assembly

21926414

TgeneHP

GO:0010942

positive regulation of cell death

19740759

TgeneHP

GO:0042542

response to hydrogen peroxide

19740759

TgeneHP

GO:0051354

negative regulation of oxidoreductase activity

19740759

TgeneHP

GO:2000296

negative regulation of hydrogen peroxide catabolic process

19740759



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
ChiTaRS5.0N/AAV692224IL1RAPL1chrX

29941404

-HPchr16

72094024

+


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Fusion Gene ORF analysis for IL1RAPL1-HP

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-3CDSENST00000302196ENST00000355906IL1RAPL1chrX

29941404

-HPchr16

72094024

+
intron-3CDSENST00000302196ENST00000398131IL1RAPL1chrX

29941404

-HPchr16

72094024

+
intron-3CDSENST00000302196ENST00000570083IL1RAPL1chrX

29941404

-HPchr16

72094024

+
intron-3CDSENST00000378993ENST00000355906IL1RAPL1chrX

29941404

-HPchr16

72094024

+
intron-3CDSENST00000378993ENST00000398131IL1RAPL1chrX

29941404

-HPchr16

72094024

+
intron-3CDSENST00000378993ENST00000570083IL1RAPL1chrX

29941404

-HPchr16

72094024

+
intron-intronENST00000302196ENST00000357763IL1RAPL1chrX

29941404

-HPchr16

72094024

+
intron-intronENST00000302196ENST00000562526IL1RAPL1chrX

29941404

-HPchr16

72094024

+
intron-intronENST00000302196ENST00000565574IL1RAPL1chrX

29941404

-HPchr16

72094024

+
intron-intronENST00000302196ENST00000569639IL1RAPL1chrX

29941404

-HPchr16

72094024

+
intron-intronENST00000378993ENST00000357763IL1RAPL1chrX

29941404

-HPchr16

72094024

+
intron-intronENST00000378993ENST00000562526IL1RAPL1chrX

29941404

-HPchr16

72094024

+
intron-intronENST00000378993ENST00000565574IL1RAPL1chrX

29941404

-HPchr16

72094024

+
intron-intronENST00000378993ENST00000569639IL1RAPL1chrX

29941404

-HPchr16

72094024

+

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 IL1RAPL1-HP


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 IL1RAPL1-HP


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/:29941404/:72094024)
- 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
.HP

P00738

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: As a result of hemolysis, hemoglobin is found to accumulate in the kidney and is secreted in the urine. Haptoglobin captures, and combines with free plasma hemoglobin to allow hepatic recycling of heme iron and to prevent kidney damage. Haptoglobin also acts as an antioxidant, has antibacterial activity, and plays a role in modulating many aspects of the acute phase response. Hemoglobin/haptoglobin complexes are rapidly cleared by the macrophage CD163 scavenger receptor expressed on the surface of liver Kupfer cells through an endocytic lysosomal degradation pathway. {ECO:0000269|PubMed:21248165}.; FUNCTION: The uncleaved form of allele alpha-2 (2-2), known as zonulin, plays a role in intestinal permeability, allowing intercellular tight junction disassembly, and controlling the equilibrium between tolerance and immunity to non-self antigens. {ECO:0000269|PubMed:21248165}.

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 IL1RAPL1-HP


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 IL1RAPL1-HP


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 IL1RAPL1-HP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneHPP00738DB14548Zinc sulfate, unspecified formBinderSmall moleculeApproved|Experimental
TgeneHPP00738DB14533Zinc chlorideBinderSmall moleculeApproved|Investigational

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Related Diseases for IL1RAPL1-HP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIL1RAPL1C0796206Atkin syndrome6CLINGEN;CTD_human;GENOMICS_ENGLAND
HgeneIL1RAPL1C0796241MENTAL RETARDATION, X-LINKED 34 (disorder)6CLINGEN
HgeneIL1RAPL1C0004352Autistic Disorder2CTD_human
HgeneIL1RAPL1C2931498Mental Retardation, X-Linked 12ORPHANET
HgeneIL1RAPL1C0025202melanoma1CTD_human
HgeneIL1RAPL1C0809983Schizophrenia and related disorders1PSYGENET
HgeneIL1RAPL1C1136249Mental Retardation, X-Linked1CTD_human;GENOMICS_ENGLAND
HgeneIL1RAPL1C1510586Autism Spectrum Disorders1CTD_human
TgeneC0041696Unipolar Depression4PSYGENET
TgeneC0011570Mental Depression3PSYGENET
TgeneC0011581Depressive disorder3PSYGENET
TgeneC0027051Myocardial Infarction3CTD_human
TgeneC1269683Major Depressive Disorder3PSYGENET
TgeneC0024530Malaria2CTD_human
TgeneC0525045Mood Disorders2PSYGENET
TgeneC0001723Affective Disorders, Psychotic1PSYGENET
TgeneC0002871Anemia1CTD_human
TgeneC0002895Anemia, Sickle Cell1CTD_human
TgeneC0003864Arthritis1CTD_human
TgeneC0004153Atherosclerosis1CTD_human
TgeneC0004364Autoimmune Diseases1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007222Cardiovascular Diseases1CTD_human
TgeneC0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0011875Diabetic Angiopathies1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0016479Food Poisoning1CTD_human
TgeneC0017416Genital Neoplasms, Female1CTD_human
TgeneC0018995Hemochromatosis1CTD_human
TgeneC0019054Hemolysis (disorder)1CTD_human
TgeneC0019163Hepatitis B1CTD_human
TgeneC0019693HIV Infections1CTD_human
TgeneC0020517Hypersensitivity1CTD_human
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0022660Kidney Failure, Acute1CTD_human
TgeneC0023418leukemia1CTD_human
TgeneC0025945Microangiopathy, Diabetic1CTD_human
TgeneC0035305Retinal Detachment1CTD_human
TgeneC0036341Schizophrenia1CTD_human
TgeneC0041296Tuberculosis1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0085397Pasteurellaceae Infections1CTD_human
TgeneC0162323Polyarthritis1CTD_human
TgeneC0205734Diabetes, Autoimmune1CTD_human
TgeneC0235574Intravascular hemolysis1CTD_human
TgeneC0242339Dyslipidemias1CTD_human
TgeneC0312854Extravascular Hemolysis1CTD_human
TgeneC0339546Retinal Pigment Epithelial Detachment1CTD_human
TgeneC0341934Transient hypertension of pregnancy1CTD_human
TgeneC0342257Complications of Diabetes Mellitus1CTD_human
TgeneC0342302Brittle diabetes1CTD_human
TgeneC0392514Hereditary hemochromatosis1CTD_human
TgeneC0524909Hepatitis B, Chronic1CTD_human
TgeneC0524910Hepatitis C, Chronic1CTD_human
TgeneC0598784Dyslipoproteinemias1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0679360Foodborne Disease1CTD_human
TgeneC0852036Pregnancy associated hypertension1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1527304Allergic Reaction1CTD_human
TgeneC1563937Atherogenesis1CTD_human
TgeneC1565662Acute Kidney Insufficiency1CTD_human
TgeneC2609414Acute kidney injury1CTD_human
TgeneC3279786ANHAPTOGLOBINEMIA1UNIPROT
TgeneC3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
TgeneC4505456HIV Coinfection1CTD_human
TgeneC4554117Diabetes Mellitus, Sudden-Onset1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human