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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:RNF43-HSF5 (FusionGDB2 ID:74646)

Fusion Gene Summary for RNF43-HSF5

check button Fusion gene summary
Fusion gene informationFusion gene name: RNF43-HSF5
Fusion gene ID: 74646
HgeneTgene
Gene symbol

RNF43

HSF5

Gene ID

54894

124535

Gene namering finger protein 43heat shock transcription factor 5
SynonymsRNF124|SSPCS|URCCHSF 5|HSTF 5
Cytomap

17q22

17q22

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase RNF43RING-type E3 ubiquitin transferase RNF43heat shock factor protein 5heat shock transcription factor family member 5
Modification date2020031320200313
UniProtAcc.

Q4G112

Ensembl transtripts involved in fusion geneENST00000500597, ENST00000407977, 
ENST00000583753, ENST00000584437, 
ENST00000577716, ENST00000581868, 
ENST00000577625, ENST00000580014, 
ENST00000323777, 
Fusion gene scores* DoF score12 X 10 X 7=8407 X 4 X 6=168
# samples 138
** MAII scorelog2(13/840*10)=-2.69187770463767
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RNF43 [Title/Abstract] AND HSF5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRNF43(56492687)-HSF5(56499791), # samples:2
Anticipated loss of major functional domain due to fusion event.RNF43-HSF5 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
RNF43-HSF5 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
* 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
HgeneRNF43

GO:0006511

ubiquitin-dependent protein catabolic process

22895187

HgeneRNF43

GO:0016567

protein ubiquitination

22575959

HgeneRNF43

GO:0038018

Wnt receptor catabolic process

22895187


check buttonFusion gene breakpoints across RNF43 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across HSF5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4READTCGA-AF-5654-01ARNF43chr17

56492687

-HSF5chr17

56499791

-
ChimerDB4COADTCGA-AA-3819-01ARNF43chr17

56492690

-HSF5chr17

56544343

-
ChimerDB4READTCGA-AF-5654-01ARNF43chr17

56492687

-HSF5chr17

56499791

-


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Fusion Gene ORF analysis for RNF43-HSF5

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
In-frameENST00000500597ENST00000323777RNF43chr17

56492687

-HSF5chr17

56499791

-
In-frameENST00000407977ENST00000323777RNF43chr17

56492687

-HSF5chr17

56499791

-
Frame-shiftENST00000583753ENST00000323777RNF43chr17

56492687

-HSF5chr17

56499791

-
Frame-shiftENST00000584437ENST00000323777RNF43chr17

56492687

-HSF5chr17

56499791

-
Frame-shiftENST00000577716ENST00000323777RNF43chr17

56492687

-HSF5chr17

56499791

-
intron-3CDSENST00000581868ENST00000323777RNF43chr17

56492687

-HSF5chr17

56499791

-
intron-3CDSENST00000577625ENST00000323777RNF43chr17

56492687

-HSF5chr17

56499791

-
intron-3CDSENST00000580014ENST00000323777RNF43chr17

56492687

-HSF5chr17

56499791

-
Frame-shiftENST00000500597ENST00000323777RNF43chr17

56492690

-HSF5chr17

56544343

-
Frame-shiftENST00000407977ENST00000323777RNF43chr17

56492690

-HSF5chr17

56544343

-
Frame-shiftENST00000583753ENST00000323777RNF43chr17

56492690

-HSF5chr17

56544343

-
Frame-shiftENST00000584437ENST00000323777RNF43chr17

56492690

-HSF5chr17

56544343

-
Frame-shiftENST00000577716ENST00000323777RNF43chr17

56492690

-HSF5chr17

56544343

-
intron-3CDSENST00000581868ENST00000323777RNF43chr17

56492690

-HSF5chr17

56544343

-
intron-3CDSENST00000577625ENST00000323777RNF43chr17

56492690

-HSF5chr17

56544343

-
intron-3CDSENST00000580014ENST00000323777RNF43chr17

56492690

-HSF5chr17

56544343

-

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 RNF43-HSF5


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.

check buttonDistribution 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 RNF43-HSF5


check button Go to

FGviewer for the breakpoints of chr17:56492687-chr17:56499791

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.HSF5

Q4G112

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: May act as a transcriptional factor. {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
HgeneRNF43chr17:56492687chr17:56499791ENST00000407977-210443_50384.0784.0Compositional biasNote=Ser-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000407977-210547_55784.0784.0Compositional biasNote=His-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000407977-210569_76084.0784.0Compositional biasNote=Pro-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000500597-29443_50384.0743.0Compositional biasNote=Ser-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000500597-29547_55784.0743.0Compositional biasNote=His-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000500597-29569_76084.0743.0Compositional biasNote=Pro-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000577625-19443_5030657.0Compositional biasNote=Ser-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000577625-19547_5570657.0Compositional biasNote=His-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000577625-19569_7600657.0Compositional biasNote=Pro-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000577716-210443_50384.0784.0Compositional biasNote=Ser-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000577716-210547_55784.0784.0Compositional biasNote=His-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000577716-210569_76084.0784.0Compositional biasNote=Pro-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000583753-18443_50384.0743.0Compositional biasNote=Ser-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000583753-18547_55784.0743.0Compositional biasNote=His-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000583753-18569_76084.0743.0Compositional biasNote=Pro-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000584437-19443_50384.0784.0Compositional biasNote=Ser-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000584437-19547_55784.0784.0Compositional biasNote=His-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000584437-19569_76084.0784.0Compositional biasNote=Pro-rich
HgeneRNF43chr17:56492687chr17:56499791ENST00000407977-210219_78384.0784.0Topological domainCytoplasmic
HgeneRNF43chr17:56492687chr17:56499791ENST00000407977-21024_19784.0784.0Topological domainExtracellular
HgeneRNF43chr17:56492687chr17:56499791ENST00000500597-29219_78384.0743.0Topological domainCytoplasmic
HgeneRNF43chr17:56492687chr17:56499791ENST00000500597-2924_19784.0743.0Topological domainExtracellular
HgeneRNF43chr17:56492687chr17:56499791ENST00000577625-19219_7830657.0Topological domainCytoplasmic
HgeneRNF43chr17:56492687chr17:56499791ENST00000577625-1924_1970657.0Topological domainExtracellular
HgeneRNF43chr17:56492687chr17:56499791ENST00000577716-210219_78384.0784.0Topological domainCytoplasmic
HgeneRNF43chr17:56492687chr17:56499791ENST00000577716-21024_19784.0784.0Topological domainExtracellular
HgeneRNF43chr17:56492687chr17:56499791ENST00000583753-18219_78384.0743.0Topological domainCytoplasmic
HgeneRNF43chr17:56492687chr17:56499791ENST00000583753-1824_19784.0743.0Topological domainExtracellular
HgeneRNF43chr17:56492687chr17:56499791ENST00000584437-19219_78384.0784.0Topological domainCytoplasmic
HgeneRNF43chr17:56492687chr17:56499791ENST00000584437-1924_19784.0784.0Topological domainExtracellular
HgeneRNF43chr17:56492687chr17:56499791ENST00000407977-210198_21884.0784.0TransmembraneHelical
HgeneRNF43chr17:56492687chr17:56499791ENST00000500597-29198_21884.0743.0TransmembraneHelical
HgeneRNF43chr17:56492687chr17:56499791ENST00000577625-19198_2180657.0TransmembraneHelical
HgeneRNF43chr17:56492687chr17:56499791ENST00000577716-210198_21884.0784.0TransmembraneHelical
HgeneRNF43chr17:56492687chr17:56499791ENST00000583753-18198_21884.0743.0TransmembraneHelical
HgeneRNF43chr17:56492687chr17:56499791ENST00000584437-19198_21884.0784.0TransmembraneHelical
HgeneRNF43chr17:56492687chr17:56499791ENST00000407977-210272_31384.0784.0Zinc fingerRING-type%3B atypical
HgeneRNF43chr17:56492687chr17:56499791ENST00000500597-29272_31384.0743.0Zinc fingerRING-type%3B atypical
HgeneRNF43chr17:56492687chr17:56499791ENST00000577625-19272_3130657.0Zinc fingerRING-type%3B atypical
HgeneRNF43chr17:56492687chr17:56499791ENST00000577716-210272_31384.0784.0Zinc fingerRING-type%3B atypical
HgeneRNF43chr17:56492687chr17:56499791ENST00000583753-18272_31384.0743.0Zinc fingerRING-type%3B atypical
HgeneRNF43chr17:56492687chr17:56499791ENST00000584437-19272_31384.0784.0Zinc fingerRING-type%3B atypical
TgeneHSF5chr17:56492687chr17:56499791ENST000003237774610_200573.3333333333334597.0DNA bindingOntology_term=ECO:0000250


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Fusion Gene Sequence for RNF43-HSF5


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 RNF43-HSF5


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 RNF43-HSF5


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 RNF43-HSF5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRNF43C4310714SESSILE SERRATED POLYPOSIS CANCER SYNDROME6CLINGEN
HgeneRNF43C0009402Colorectal Carcinoma1CTD_human
HgeneRNF43C0009404Colorectal Neoplasms1CTD_human
HgeneRNF43C0014170Endometrial Neoplasms1CTD_human
HgeneRNF43C0023897Liver Diseases, Parasitic1CTD_human
HgeneRNF43C0024623Malignant neoplasm of stomach1CTD_human
HgeneRNF43C0033578Prostatic Neoplasms1CTD_human
HgeneRNF43C0038356Stomach Neoplasms1CTD_human
HgeneRNF43C0206698Cholangiocarcinoma1CGI;CTD_human
HgeneRNF43C0345905Intrahepatic Cholangiocarcinoma1CTD_human
HgeneRNF43C0376358Malignant neoplasm of prostate1CTD_human
HgeneRNF43C0476089Endometrial Carcinoma1CTD_human
HgeneRNF43C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneRNF43C2931456Prostate cancer, familial1CTD_human
HgeneRNF43C3805278Extrahepatic Cholangiocarcinoma1CTD_human
HgeneRNF43C4296896Hyperplastic polyposis syndrome1ORPHANET
HgeneRNF43C4722327PROSTATE CANCER, HEREDITARY, 11CTD_human