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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:ZMYND8-RNF43 (FusionGDB2 ID:HG23613TG54894)

Fusion Gene Summary for ZMYND8-RNF43

check button Fusion gene summary
Fusion gene informationFusion gene name: ZMYND8-RNF43
Fusion gene ID: hg23613tg54894
HgeneTgene
Gene symbol

ZMYND8

RNF43

Gene ID

23613

54894

Gene namezinc finger MYND-type containing 8ring finger protein 43
SynonymsPRKCBP1|PRO2893|RACK7RNF124|SSPCS|URCC
Cytomap('ZMYND8')('RNF43')

20q13.12

17q22

Type of geneprotein-codingprotein-coding
Descriptionprotein kinase C-binding protein 1CTCL tumor antigen se14-3cutaneous T-cell lymphoma-associated antigen se14-3predicted protein of HQ2893zinc finger MYND domain-containing protein 8E3 ubiquitin-protein ligase RNF43RING-type E3 ubiquitin transferase RNF43
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000262975, ENST00000311275, 
ENST00000352431, ENST00000355972, 
ENST00000360911, ENST00000372023, 
ENST00000396281, ENST00000446994, 
ENST00000458360, ENST00000461685, 
ENST00000471951, ENST00000536340, 
ENST00000540497, ENST00000468376, 
Fusion gene scores* DoF score25 X 23 X 10=57506 X 3 X 4=72
# samples 346
** MAII scorelog2(34/5750*10)=-4.0799553045814
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZMYND8 [Title/Abstract] AND RNF43 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZMYND8(45976600)-RNF43(56448394), # 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
TgeneRNF43

GO:0006511

ubiquitin-dependent protein catabolic process

22895187

TgeneRNF43

GO:0016567

protein ubiquitination

22575959

TgeneRNF43

GO:0038018

Wnt receptor catabolic process

22895187



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
ChimerDB4PRADTCGA-ZG-A9LZ-01AZMYND8chr20

45976600

-RNF43chr17

56448394

-


Top

Fusion Gene ORF analysis for ZMYND8-RNF43

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
5CDS-5UTRENST00000262975ENST00000577625ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000262975ENST00000581868ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000311275ENST00000577625ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000311275ENST00000581868ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000352431ENST00000577625ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000352431ENST00000581868ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000355972ENST00000577625ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000355972ENST00000581868ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000360911ENST00000577625ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000360911ENST00000581868ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000372023ENST00000577625ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000372023ENST00000581868ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000396281ENST00000577625ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000396281ENST00000581868ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000446994ENST00000577625ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000446994ENST00000581868ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000458360ENST00000577625ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000458360ENST00000581868ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000461685ENST00000577625ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000461685ENST00000581868ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000471951ENST00000577625ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000471951ENST00000581868ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000536340ENST00000577625ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000536340ENST00000581868ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000540497ENST00000577625ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-5UTRENST00000540497ENST00000581868ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000262975ENST00000407977ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000262975ENST00000500597ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000262975ENST00000577716ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000262975ENST00000580014ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000262975ENST00000583753ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000262975ENST00000584437ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000311275ENST00000407977ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000311275ENST00000500597ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000311275ENST00000577716ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000311275ENST00000580014ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000311275ENST00000583753ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000311275ENST00000584437ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000352431ENST00000407977ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000352431ENST00000500597ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000352431ENST00000577716ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000352431ENST00000580014ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000352431ENST00000583753ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000352431ENST00000584437ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000355972ENST00000407977ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000355972ENST00000500597ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000355972ENST00000577716ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000355972ENST00000580014ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000355972ENST00000583753ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000355972ENST00000584437ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000360911ENST00000407977ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000360911ENST00000500597ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000360911ENST00000577716ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000360911ENST00000580014ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000360911ENST00000583753ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000360911ENST00000584437ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000372023ENST00000407977ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000372023ENST00000500597ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000372023ENST00000577716ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000372023ENST00000580014ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000372023ENST00000583753ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000372023ENST00000584437ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000396281ENST00000407977ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000396281ENST00000500597ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000396281ENST00000577716ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000396281ENST00000580014ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000396281ENST00000583753ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000396281ENST00000584437ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000446994ENST00000407977ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000446994ENST00000500597ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000446994ENST00000577716ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000446994ENST00000580014ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000446994ENST00000583753ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000446994ENST00000584437ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000458360ENST00000407977ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000458360ENST00000500597ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000458360ENST00000577716ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000458360ENST00000580014ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000458360ENST00000583753ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000458360ENST00000584437ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000461685ENST00000407977ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000461685ENST00000500597ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000461685ENST00000577716ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000461685ENST00000580014ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000461685ENST00000583753ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000461685ENST00000584437ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000471951ENST00000407977ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000471951ENST00000500597ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000471951ENST00000577716ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000471951ENST00000580014ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000471951ENST00000583753ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000471951ENST00000584437ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000536340ENST00000407977ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000536340ENST00000500597ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000536340ENST00000577716ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000536340ENST00000580014ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000536340ENST00000583753ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000536340ENST00000584437ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000540497ENST00000407977ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000540497ENST00000500597ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000540497ENST00000577716ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000540497ENST00000580014ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000540497ENST00000583753ZMYND8chr20

45976600

-RNF43chr17

56448394

-
5CDS-intronENST00000540497ENST00000584437ZMYND8chr20

45976600

-RNF43chr17

56448394

-
intron-5UTRENST00000468376ENST00000577625ZMYND8chr20

45976600

-RNF43chr17

56448394

-
intron-5UTRENST00000468376ENST00000581868ZMYND8chr20

45976600

-RNF43chr17

56448394

-
intron-intronENST00000468376ENST00000407977ZMYND8chr20

45976600

-RNF43chr17

56448394

-
intron-intronENST00000468376ENST00000500597ZMYND8chr20

45976600

-RNF43chr17

56448394

-
intron-intronENST00000468376ENST00000577716ZMYND8chr20

45976600

-RNF43chr17

56448394

-
intron-intronENST00000468376ENST00000580014ZMYND8chr20

45976600

-RNF43chr17

56448394

-
intron-intronENST00000468376ENST00000583753ZMYND8chr20

45976600

-RNF43chr17

56448394

-
intron-intronENST00000468376ENST00000584437ZMYND8chr20

45976600

-RNF43chr17

56448394

-

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 ZMYND8-RNF43


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)

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.
genomic feature

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Fusion Protein Features for ZMYND8-RNF43


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/:45976600/:56448394)
- 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 ZMYND8-RNF43


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 ZMYND8-RNF43


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 ZMYND8-RNF43


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 ZMYND8-RNF43


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4310714SESSILE SERRATED POLYPOSIS CANCER SYNDROME6CLINGEN
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0014170Endometrial Neoplasms1CTD_human
TgeneC0023897Liver Diseases, Parasitic1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0206698Cholangiocarcinoma1CGI;CTD_human
TgeneC0345905Intrahepatic Cholangiocarcinoma1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0476089Endometrial Carcinoma1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC2931456Prostate cancer, familial1CTD_human
TgeneC3805278Extrahepatic Cholangiocarcinoma1CTD_human
TgeneC4296896Hyperplastic polyposis syndrome1ORPHANET
TgeneC4722327PROSTATE CANCER, HEREDITARY, 11CTD_human