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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:FBF1-HELZ (FusionGDB2 ID:29513)

Fusion Gene Summary for FBF1-HELZ

check button Fusion gene summary
Fusion gene informationFusion gene name: FBF1-HELZ
Fusion gene ID: 29513
HgeneTgene
Gene symbol

FBF1

HELZ

Gene ID

85302

9931

Gene nameFas binding factor 1helicase with zinc finger
SynonymsAlb|FBF-1DHRC|DRHC|HUMORF5
Cytomap

17q25.1

17q24.2

Type of geneprotein-codingprotein-coding
Descriptionfas-binding factor 1Fas (TNFRSF6) binding factor 1Fas binding protein 1albatrossprotein albatrossprobable helicase with zinc finger domaindown-regulated in human cancers proteinhelicase with zinc finger domain
Modification date2020032020200313
UniProtAcc

Q8TES7

Q9BYK8

Ensembl transtripts involved in fusion geneENST00000319129, ENST00000389570, 
ENST00000586717, ENST00000586631, 
ENST00000588478, 
ENST00000580662, 
ENST00000358691, ENST00000580168, 
Fusion gene scores* DoF score2 X 2 X 2=88 X 7 X 3=168
# samples 28
** MAII scorelog2(2/8*10)=1.32192809488736log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FBF1 [Title/Abstract] AND HELZ [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFBF1(73933647)-HELZ(65134230), # samples:3
Anticipated loss of major functional domain due to fusion event.FBF1-HELZ seems lost the major protein functional domain in Tgene partner, which is a essential 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

check buttonFusion gene breakpoints across FBF1 (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 HELZ (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
ChimerDB4LUADTCGA-78-7146-01AFBF1chr17

73933647

-HELZchr17

65134230

-


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Fusion Gene ORF analysis for FBF1-HELZ

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-intronENST00000319129ENST00000580662FBF1chr17

73933647

-HELZchr17

65134230

-
5CDS-intronENST00000389570ENST00000580662FBF1chr17

73933647

-HELZchr17

65134230

-
5CDS-intronENST00000586717ENST00000580662FBF1chr17

73933647

-HELZchr17

65134230

-
Frame-shiftENST00000319129ENST00000358691FBF1chr17

73933647

-HELZchr17

65134230

-
Frame-shiftENST00000319129ENST00000580168FBF1chr17

73933647

-HELZchr17

65134230

-
Frame-shiftENST00000389570ENST00000358691FBF1chr17

73933647

-HELZchr17

65134230

-
Frame-shiftENST00000389570ENST00000580168FBF1chr17

73933647

-HELZchr17

65134230

-
Frame-shiftENST00000586717ENST00000358691FBF1chr17

73933647

-HELZchr17

65134230

-
Frame-shiftENST00000586717ENST00000580168FBF1chr17

73933647

-HELZchr17

65134230

-
intron-3CDSENST00000586631ENST00000358691FBF1chr17

73933647

-HELZchr17

65134230

-
intron-3CDSENST00000586631ENST00000580168FBF1chr17

73933647

-HELZchr17

65134230

-
intron-3CDSENST00000588478ENST00000358691FBF1chr17

73933647

-HELZchr17

65134230

-
intron-3CDSENST00000588478ENST00000580168FBF1chr17

73933647

-HELZchr17

65134230

-
intron-intronENST00000586631ENST00000580662FBF1chr17

73933647

-HELZchr17

65134230

-
intron-intronENST00000588478ENST00000580662FBF1chr17

73933647

-HELZchr17

65134230

-

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 FBF1-HELZ


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 FBF1-HELZ


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/:73933647/:65134230)
- 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
FBF1

Q8TES7

HELZ

Q9BYK8

FUNCTION: Keratin-binding protein required for epithelial cell polarization. Involved in apical junction complex (AJC) assembly via its interaction with PARD3. Required for ciliogenesis. {ECO:0000269|PubMed:18838552, ECO:0000269|PubMed:23348840}.FUNCTION: Helicase that acts as a transcriptional coactivator for a number of nuclear receptors including PPARA, PPARG, THRA, THRB and RXRA. {ECO:0000269|PubMed:16239304, ECO:0000269|PubMed:23525231}.

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 FBF1-HELZ


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 FBF1-HELZ


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 FBF1-HELZ


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 FBF1-HELZ


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