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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:HNF4A-MOCOS (FusionGDB2 ID:37014)

Fusion Gene Summary for HNF4A-MOCOS

check button Fusion gene summary
Fusion gene informationFusion gene name: HNF4A-MOCOS
Fusion gene ID: 37014
HgeneTgene
Gene symbol

HNF4A

MOCOS

Gene ID

6927

55034

Gene nameHNF1 homeobox Amolybdenum cofactor sulfurase
SynonymsHNF-1A|HNF1|HNF4A|IDDM20|LFB1|MODY3|TCF-1|TCF1HMCS|MCS|MOS
Cytomap

12q24.31

18q12.2

Type of geneprotein-codingprotein-coding
Descriptionhepatocyte nuclear factor 1-alphaHNF-1-alphaalbumin proximal factorhepatic nuclear factor 1interferon production regulator factorliver-specific transcription factor LF-B1transcription factor 1, hepatictruncated hepatocyte nuclear factor 1 alphamolybdenum cofactor sulfurase
Modification date2020031320200313
UniProtAcc

P41235

Q96EN8

Ensembl transtripts involved in fusion geneENST00000316099, ENST00000316673, 
ENST00000415691, ENST00000443598, 
ENST00000457232, ENST00000609795, 
ENST00000588132, ENST00000261326, 
Fusion gene scores* DoF score6 X 5 X 3=904 X 5 X 5=100
# samples 710
** MAII scorelog2(7/90*10)=-0.362570079384708
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/100*10)=0
Context

PubMed: HNF4A [Title/Abstract] AND MOCOS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHNF4A(43048516)-MOCOS(33846711), # samples:1
Anticipated loss of major functional domain due to fusion event.HNF4A-MOCOS seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
HNF4A-MOCOS seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
HNF4A-MOCOS seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
HNF4A-MOCOS seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene 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
HgeneHNF4A

GO:0001779

natural killer cell differentiation

11301190

HgeneHNF4A

GO:0006357

regulation of transcription by RNA polymerase II

10330009

HgeneHNF4A

GO:0045893

positive regulation of transcription, DNA-templated

1989880|11980910|12453420


check buttonFusion gene breakpoints across HNF4A (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 MOCOS (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
ChimerDB4STADTCGA-HU-A4GXHNF4Achr20

43048516

+MOCOSchr18

33846711

+


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Fusion Gene ORF analysis for HNF4A-MOCOS

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-3UTRENST00000316099ENST00000588132HNF4Achr20

43048516

+MOCOSchr18

33846711

+
5CDS-3UTRENST00000316673ENST00000588132HNF4Achr20

43048516

+MOCOSchr18

33846711

+
5CDS-3UTRENST00000415691ENST00000588132HNF4Achr20

43048516

+MOCOSchr18

33846711

+
5CDS-3UTRENST00000443598ENST00000588132HNF4Achr20

43048516

+MOCOSchr18

33846711

+
5CDS-3UTRENST00000457232ENST00000588132HNF4Achr20

43048516

+MOCOSchr18

33846711

+
5CDS-3UTRENST00000609795ENST00000588132HNF4Achr20

43048516

+MOCOSchr18

33846711

+
Frame-shiftENST00000316099ENST00000261326HNF4Achr20

43048516

+MOCOSchr18

33846711

+
Frame-shiftENST00000316673ENST00000261326HNF4Achr20

43048516

+MOCOSchr18

33846711

+
Frame-shiftENST00000415691ENST00000261326HNF4Achr20

43048516

+MOCOSchr18

33846711

+
Frame-shiftENST00000443598ENST00000261326HNF4Achr20

43048516

+MOCOSchr18

33846711

+
Frame-shiftENST00000457232ENST00000261326HNF4Achr20

43048516

+MOCOSchr18

33846711

+
Frame-shiftENST00000609795ENST00000261326HNF4Achr20

43048516

+MOCOSchr18

33846711

+

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 HNF4A-MOCOS


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)
HNF4Achr2043048516+MOCOSchr1833846711+2.47E-091
HNF4Achr2043048516+MOCOSchr1833846711+2.47E-091

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.
genomic feature of top 1%

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Fusion Protein Features for HNF4A-MOCOS


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/:43048516/:33846711)
- 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
HNF4A

P41235

MOCOS

Q96EN8

FUNCTION: Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes (PubMed:30597922). Activates the transcription of CYP2C38 (By similarity). Represses the CLOCK-ARNTL/BMAL1 transcriptional activity and is essential for circadian rhythm maintenance and period regulation in the liver and colon cells (PubMed:30530698). {ECO:0000250|UniProtKB:P49698, ECO:0000269|PubMed:30530698, ECO:0000269|PubMed:30597922}.FUNCTION: Sulfurates the molybdenum cofactor. Sulfation of molybdenum is essential for xanthine dehydrogenase (XDH) and aldehyde oxidase (ADO) enzymes in which molybdenum cofactor is liganded by 1 oxygen and 1 sulfur atom in active form. In vitro, the C-terminal domain is able to reduce N-hydroxylated prodrugs, such as benzamidoxime. {ECO:0000255|HAMAP-Rule:MF_03050, ECO:0000269|PubMed:16973608}.

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 HNF4A-MOCOS


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 HNF4A-MOCOS


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 HNF4A-MOCOS


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 HNF4A-MOCOS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource