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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:SRPK1-CEP57L1 (FusionGDB2 ID:86481)

Fusion Gene Summary for SRPK1-CEP57L1

Fusion gene summary

Fusion gene information	Fusion gene name: SRPK1-CEP57L1
	Fusion gene ID: 86481
		Hgene	Tgene
	Gene symbol	SRPK1	CEP57L1
	Gene ID	6732	285753
	Gene name	SRSF protein kinase 1	centrosomal protein 57 like 1
	Synonyms	SFRSK1	C6orf182\|bA487F23.2\|cep57R
	Cytomap	6p21.31	6q21
	Type of gene	protein-coding	protein-coding
	Description	SRSF protein kinase 1SFRS protein kinase 1SR-protein-specific kinase 1serine/arginine-rich splicing factor kinase 1serine/threonine-protein kinase SRPK1	centrosomal protein CEP57L1centrosomal protein 57kDa-like 1centrosomal protein 57kDa-like protein 1centrosomal protein of 57 kDa-related proteincep57-related protein
	Modification date	20200327	20200313
	UniProtAcc	.	Q8IYX8
	Ensembl transtripts involved in fusion gene	ENST00000373822, ENST00000373825, ENST00000423325, ENST00000373821,	ENST00000336977, ENST00000359793, ENST00000368968, ENST00000368970, ENST00000407272, ENST00000517392, ENST00000519095, ENST00000520883, ENST00000521277, ENST00000521522, ENST00000521737, ENST00000523787,
Fusion gene scores	* DoF score	16 X 12 X 10=1920	2 X 3 X 2=12
	# samples	21	3
	** MAII score	log2(21/1920*10)=-3.1926450779424 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: SRPK1 [Title/Abstract] AND CEP57L1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	SRPK1(35810312)-CEP57L1(109481775), # samples:3
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	SRPK1	GO:0006468	protein phosphorylation	9237760\|11509566
Hgene	SRPK1	GO:0007059	chromosome segregation	15034300
Hgene	SRPK1	GO:0035556	intracellular signal transduction	11509566
Hgene	SRPK1	GO:0045070	positive regulation of viral genome replication	20498328
Hgene	SRPK1	GO:0045071	negative regulation of viral genome replication	12417631
Hgene	SRPK1	GO:0050684	regulation of mRNA processing	8208298

Fusion gene breakpoints across SRPK1 (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 CEP57L1 (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
ChimerDB4	LUSC	TCGA-94-7033-01A	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
ChimerDB4	LUSC	TCGA-94-7033	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
ChimerDB4	LUSC	TCGA-94-7033	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+

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Fusion Gene ORF analysis for SRPK1-CEP57L1

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
5CDS-intron	ENST00000373822	ENST00000336977	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373822	ENST00000336977	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373822	ENST00000359793	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373822	ENST00000359793	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373822	ENST00000368968	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373822	ENST00000368968	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373822	ENST00000368970	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373822	ENST00000368970	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373822	ENST00000407272	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373822	ENST00000407272	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373822	ENST00000517392	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373822	ENST00000517392	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373822	ENST00000519095	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373822	ENST00000519095	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373822	ENST00000520883	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373822	ENST00000520883	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373822	ENST00000521277	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373822	ENST00000521277	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373822	ENST00000521522	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373822	ENST00000521522	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373822	ENST00000521737	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373822	ENST00000521737	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373822	ENST00000523787	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373822	ENST00000523787	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373825	ENST00000336977	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373825	ENST00000336977	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373825	ENST00000359793	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373825	ENST00000359793	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373825	ENST00000368968	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373825	ENST00000368968	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373825	ENST00000368970	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373825	ENST00000368970	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373825	ENST00000407272	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373825	ENST00000407272	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373825	ENST00000517392	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373825	ENST00000517392	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373825	ENST00000519095	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373825	ENST00000519095	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373825	ENST00000520883	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373825	ENST00000520883	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373825	ENST00000521277	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373825	ENST00000521277	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373825	ENST00000521522	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373825	ENST00000521522	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373825	ENST00000521737	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373825	ENST00000521737	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000373825	ENST00000523787	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000373825	ENST00000523787	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000423325	ENST00000336977	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000423325	ENST00000336977	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000423325	ENST00000359793	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000423325	ENST00000359793	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000423325	ENST00000368968	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000423325	ENST00000368968	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000423325	ENST00000368970	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000423325	ENST00000368970	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000423325	ENST00000407272	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000423325	ENST00000407272	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000423325	ENST00000517392	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000423325	ENST00000517392	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000423325	ENST00000519095	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000423325	ENST00000519095	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000423325	ENST00000520883	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000423325	ENST00000520883	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000423325	ENST00000521277	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000423325	ENST00000521277	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000423325	ENST00000521522	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000423325	ENST00000521522	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000423325	ENST00000521737	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000423325	ENST00000521737	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
5CDS-intron	ENST00000423325	ENST00000523787	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
5CDS-intron	ENST00000423325	ENST00000523787	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
intron-intron	ENST00000373821	ENST00000336977	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
intron-intron	ENST00000373821	ENST00000336977	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
intron-intron	ENST00000373821	ENST00000359793	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
intron-intron	ENST00000373821	ENST00000359793	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
intron-intron	ENST00000373821	ENST00000368968	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
intron-intron	ENST00000373821	ENST00000368968	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
intron-intron	ENST00000373821	ENST00000368970	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
intron-intron	ENST00000373821	ENST00000368970	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
intron-intron	ENST00000373821	ENST00000407272	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
intron-intron	ENST00000373821	ENST00000407272	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
intron-intron	ENST00000373821	ENST00000517392	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
intron-intron	ENST00000373821	ENST00000517392	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
intron-intron	ENST00000373821	ENST00000519095	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
intron-intron	ENST00000373821	ENST00000519095	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
intron-intron	ENST00000373821	ENST00000520883	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
intron-intron	ENST00000373821	ENST00000520883	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
intron-intron	ENST00000373821	ENST00000521277	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
intron-intron	ENST00000373821	ENST00000521277	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
intron-intron	ENST00000373821	ENST00000521522	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
intron-intron	ENST00000373821	ENST00000521522	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
intron-intron	ENST00000373821	ENST00000521737	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
intron-intron	ENST00000373821	ENST00000521737	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+
intron-intron	ENST00000373821	ENST00000523787	SRPK1	chr6	35810312	-	CEP57L1	chr6	109481775	+
intron-intron	ENST00000373821	ENST00000523787	SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+

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 SRPK1-CEP57L1

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)
SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+	1.45E-10	1
SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+	1.45E-10	1
SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+	1.45E-10	1
SRPK1	chr6	35810311	-	CEP57L1	chr6	109481774	+	1.45E-10	1

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 SRPK1-CEP57L1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:35810312/:109481775)
- 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
.	CEP57L1 Q8IYX8
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: Centrosomal protein which may be required for microtubule attachment to centrosomes. {ECO:0000250}.

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 SRPK1-CEP57L1

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 SRPK1-CEP57L1

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 SRPK1-CEP57L1

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 SRPK1-CEP57L1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source