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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:IL1R1-IL1R1 (FusionGDB2 ID:39460)

Fusion Gene Summary for IL1R1-IL1R1

Fusion gene summary

Fusion gene information	Fusion gene name: IL1R1-IL1R1
	Fusion gene ID: 39460
		Hgene	Tgene
	Gene symbol	IL1R1	IL1R1
	Gene ID	3554	3554
	Gene name	interleukin 1 receptor type 1	interleukin 1 receptor type 1
	Synonyms	CD121A\|D2S1473\|IL-1R-alpha\|IL1R\|IL1RA\|P80	CD121A\|D2S1473\|IL-1R-alpha\|IL1R\|IL1RA\|P80
	Cytomap	2q11.2-q12.1	2q11.2-q12.1
	Type of gene	protein-coding	protein-coding
	Description	interleukin-1 receptor type 1CD121 antigen-like family member AIL-1R-1IL-1RT-1IL-1RT1interleukin 1 receptor alpha, type Iinterleukin-1 receptor alphainterleukin-1 receptor type I	interleukin-1 receptor type 1CD121 antigen-like family member AIL-1R-1IL-1RT-1IL-1RT1interleukin 1 receptor alpha, type Iinterleukin-1 receptor alphainterleukin-1 receptor type I
	Modification date	20200313	20200313
	UniProtAcc	P14778	P14778
	Ensembl transtripts involved in fusion gene	ENST00000233946, ENST00000409589, ENST00000410023, ENST00000409288, ENST00000409329, ENST00000409929, ENST00000424272,	ENST00000233946, ENST00000409589, ENST00000410023, ENST00000409288, ENST00000409329, ENST00000409929, ENST00000424272,
Fusion gene scores	* DoF score	4 X 6 X 6=144	5 X 6 X 2=60
	# samples	7	6
	** MAII score	log2(7/144*10)=-1.04064198449735 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(6/60*10)=0
Context	PubMed: IL1R1 [Title/Abstract] AND IL1R1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	IL1R1(102783590)-IL1R1(102784733), # samples:1 IL1R1(102794956)-IL1R1(102795017), # 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	IL1R1	GO:0032729	positive regulation of interferon-gamma production	10653850
Hgene	IL1R1	GO:0070498	interleukin-1-mediated signaling pathway	10383454
Hgene	IL1R1	GO:0070555	response to interleukin-1	10383454
Hgene	IL1R1	GO:2000556	positive regulation of T-helper 1 cell cytokine production	10653850
Tgene	IL1R1	GO:0032729	positive regulation of interferon-gamma production	10653850
Tgene	IL1R1	GO:0070498	interleukin-1-mediated signaling pathway	10383454
Tgene	IL1R1	GO:0070555	response to interleukin-1	10383454
Tgene	IL1R1	GO:2000556	positive regulation of T-helper 1 cell cytokine production	10653850

Fusion gene breakpoints across IL1R1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across IL1R1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS5.0	N/A	AF054830	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
ChiTaRS5.0	N/A	BE842588	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+

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Fusion Gene ORF analysis for IL1R1-IL1R1

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
3UTR-3UTR	ENST00000233946	ENST00000233946	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-3UTR	ENST00000233946	ENST00000409589	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-3UTR	ENST00000233946	ENST00000410023	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-3UTR	ENST00000409589	ENST00000233946	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-3UTR	ENST00000409589	ENST00000409589	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-3UTR	ENST00000409589	ENST00000410023	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-3UTR	ENST00000410023	ENST00000233946	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-3UTR	ENST00000410023	ENST00000409589	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-3UTR	ENST00000410023	ENST00000410023	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-intron	ENST00000233946	ENST00000409288	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-intron	ENST00000233946	ENST00000409329	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-intron	ENST00000233946	ENST00000409929	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-intron	ENST00000233946	ENST00000424272	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-intron	ENST00000409589	ENST00000409288	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-intron	ENST00000409589	ENST00000409329	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-intron	ENST00000409589	ENST00000409929	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-intron	ENST00000409589	ENST00000424272	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-intron	ENST00000410023	ENST00000409288	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-intron	ENST00000410023	ENST00000409329	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-intron	ENST00000410023	ENST00000409929	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
3UTR-intron	ENST00000410023	ENST00000424272	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-3UTR	ENST00000409288	ENST00000233946	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-3UTR	ENST00000409288	ENST00000409589	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-3UTR	ENST00000409288	ENST00000410023	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-3UTR	ENST00000409329	ENST00000233946	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-3UTR	ENST00000409329	ENST00000409589	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-3UTR	ENST00000409329	ENST00000410023	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-3UTR	ENST00000409929	ENST00000233946	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-3UTR	ENST00000409929	ENST00000409589	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-3UTR	ENST00000409929	ENST00000410023	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-3UTR	ENST00000424272	ENST00000233946	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-3UTR	ENST00000424272	ENST00000409589	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-3UTR	ENST00000424272	ENST00000410023	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-intron	ENST00000233946	ENST00000233946	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000233946	ENST00000409288	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000233946	ENST00000409329	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000233946	ENST00000409589	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000233946	ENST00000409929	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000233946	ENST00000410023	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000233946	ENST00000424272	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409288	ENST00000233946	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409288	ENST00000409288	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409288	ENST00000409288	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-intron	ENST00000409288	ENST00000409329	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409288	ENST00000409329	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-intron	ENST00000409288	ENST00000409589	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409288	ENST00000409929	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409288	ENST00000409929	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-intron	ENST00000409288	ENST00000410023	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409288	ENST00000424272	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409288	ENST00000424272	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-intron	ENST00000409329	ENST00000233946	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409329	ENST00000409288	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409329	ENST00000409288	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-intron	ENST00000409329	ENST00000409329	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409329	ENST00000409329	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-intron	ENST00000409329	ENST00000409589	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409329	ENST00000409929	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409329	ENST00000409929	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-intron	ENST00000409329	ENST00000410023	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409329	ENST00000424272	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409329	ENST00000424272	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-intron	ENST00000409589	ENST00000233946	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409589	ENST00000409288	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409589	ENST00000409329	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409589	ENST00000409589	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409589	ENST00000409929	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409589	ENST00000410023	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409589	ENST00000424272	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409929	ENST00000233946	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409929	ENST00000409288	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409929	ENST00000409288	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-intron	ENST00000409929	ENST00000409329	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409929	ENST00000409329	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-intron	ENST00000409929	ENST00000409589	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409929	ENST00000409929	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409929	ENST00000409929	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-intron	ENST00000409929	ENST00000410023	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409929	ENST00000424272	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000409929	ENST00000424272	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-intron	ENST00000410023	ENST00000233946	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000410023	ENST00000409288	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000410023	ENST00000409329	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000410023	ENST00000409589	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000410023	ENST00000409929	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000410023	ENST00000410023	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000410023	ENST00000424272	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000424272	ENST00000233946	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000424272	ENST00000409288	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000424272	ENST00000409288	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-intron	ENST00000424272	ENST00000409329	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000424272	ENST00000409329	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-intron	ENST00000424272	ENST00000409589	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000424272	ENST00000409929	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000424272	ENST00000409929	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+
intron-intron	ENST00000424272	ENST00000410023	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000424272	ENST00000424272	IL1R1	chr2	102783590	-	IL1R1	chr2	102784733	-
intron-intron	ENST00000424272	ENST00000424272	IL1R1	chr2	102794956	-	IL1R1	chr2	102795017	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for IL1R1-IL1R1

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution 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.

Distribution 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 IL1R1-IL1R1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:102783590/:102784733)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
IL1R1 P14778	IL1R1 P14778
FUNCTION: Receptor for IL1A, IL1B and IL1RN. After binding to interleukin-1 associates with the coreceptor IL1RAP to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B, MAPK and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Binds ligands with comparable affinity and binding of antagonist IL1RN prevents association with IL1RAP to form a signaling complex. Involved in IL1B-mediated costimulation of IFNG production from T-helper 1 (Th1) cells (PubMed:10653850). {ECO:0000269\|PubMed:10653850, ECO:0000269\|PubMed:10671496}.	FUNCTION: Receptor for IL1A, IL1B and IL1RN. After binding to interleukin-1 associates with the coreceptor IL1RAP to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B, MAPK and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Binds ligands with comparable affinity and binding of antagonist IL1RN prevents association with IL1RAP to form a signaling complex. Involved in IL1B-mediated costimulation of IFNG production from T-helper 1 (Th1) cells (PubMed:10653850). {ECO:0000269\|PubMed:10653850, ECO:0000269\|PubMed:10671496}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for IL1R1-IL1R1

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 IL1R1-IL1R1

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for IL1R1-IL1R1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for IL1R1-IL1R1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source