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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:FBXW7-SETD7 (FusionGDB2 ID:29924)

Fusion Gene Summary for FBXW7-SETD7

check button Fusion gene summary
Fusion gene informationFusion gene name: FBXW7-SETD7
Fusion gene ID: 29924
HgeneTgene
Gene symbol

FBXW7

SETD7

Gene ID

55294

80854

Gene nameF-box and WD repeat domain containing 7SET domain containing 7, histone lysine methyltransferase
SynonymsAGO|CDC4|FBW6|FBW7|FBX30|FBXO30|FBXW6|SEL-10|SEL10|hAgo|hCdc4KMT7|SET7|SET7/9|SET9
Cytomap

4q31.3

4q31.1

Type of geneprotein-codingprotein-coding
DescriptionF-box/WD repeat-containing protein 7F-box and WD repeat domain containing 7, E3 ubiquitin protein ligaseF-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)F-box protein FBW7F-box protein FBX30F-box protein SEL-10archipelagohomolog ofhistone-lysine N-methyltransferase SETD7H3-K4-HMTase SETD7SET domain containing 7, lysine methyltransferaseSET domain containing lysine methyltransferase 7SET domain-containing protein 7histone H3-K4 methyltransferase SETD7histone H3-lysine 4-specif
Modification date2020032720200313
UniProtAcc

Q969H0

.
Ensembl transtripts involved in fusion geneENST00000281708, ENST00000603548, 
ENST00000604095, ENST00000604872, 
ENST00000263981, ENST00000296555, 
ENST00000393956, ENST00000603841, 
ENST00000506866, ENST00000274031, 
ENST00000404104, ENST00000406354, 
ENST00000608958, 
Fusion gene scores* DoF score15 X 9 X 10=13505 X 5 X 3=75
# samples 175
** MAII scorelog2(17/1350*10)=-2.98935275580049
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FBXW7 [Title/Abstract] AND SETD7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFBXW7(153456093)-SETD7(140417675), # samples:1
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
HgeneFBXW7

GO:0016567

protein ubiquitination

12354302|15103331

HgeneFBXW7

GO:0031146

SCF-dependent proteasomal ubiquitin-dependent protein catabolic process

15103331|17434132

HgeneFBXW7

GO:0031398

positive regulation of protein ubiquitination

12628165

HgeneFBXW7

GO:0045741

positive regulation of epidermal growth factor-activated receptor activity

20208556

HgeneFBXW7

GO:0050821

protein stabilization

20208556

HgeneFBXW7

GO:0051443

positive regulation of ubiquitin-protein transferase activity

12628165

HgeneFBXW7

GO:1901800

positive regulation of proteasomal protein catabolic process

23858059

HgeneFBXW7

GO:1903378

positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway

23858059

HgeneFBXW7

GO:2000060

positive regulation of ubiquitin-dependent protein catabolic process

20208556

TgeneSETD7

GO:0006974

cellular response to DNA damage stimulus

23509280

TgeneSETD7

GO:0018026

peptidyl-lysine monomethylation

17108971

TgeneSETD7

GO:0018027

peptidyl-lysine dimethylation

17108971

TgeneSETD7

GO:0070828

heterochromatin organization

23509280


check buttonFusion gene breakpoints across FBXW7 (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 SETD7 (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
ChimerDB4PRADTCGA-M7-A724-01AFBXW7chr4

153456093

-SETD7chr4

140417675

-


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Fusion Gene ORF analysis for FBXW7-SETD7

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
5UTR-3CDSENST00000281708ENST00000506866FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-3CDSENST00000603548ENST00000506866FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-3CDSENST00000604095ENST00000506866FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-3CDSENST00000604872ENST00000506866FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000281708ENST00000274031FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000281708ENST00000404104FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000281708ENST00000406354FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000281708ENST00000608958FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000603548ENST00000274031FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000603548ENST00000404104FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000603548ENST00000406354FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000603548ENST00000608958FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000604095ENST00000274031FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000604095ENST00000404104FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000604095ENST00000406354FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000604095ENST00000608958FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000604872ENST00000274031FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000604872ENST00000404104FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000604872ENST00000406354FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000604872ENST00000608958FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-3CDSENST00000263981ENST00000506866FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-3CDSENST00000296555ENST00000506866FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-3CDSENST00000393956ENST00000506866FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-3CDSENST00000603841ENST00000506866FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000263981ENST00000274031FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000263981ENST00000404104FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000263981ENST00000406354FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000263981ENST00000608958FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000296555ENST00000274031FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000296555ENST00000404104FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000296555ENST00000406354FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000296555ENST00000608958FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000393956ENST00000274031FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000393956ENST00000404104FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000393956ENST00000406354FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000393956ENST00000608958FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000603841ENST00000274031FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000603841ENST00000404104FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000603841ENST00000406354FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000603841ENST00000608958FBXW7chr4

153456093

-SETD7chr4

140417675

-

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 FBXW7-SETD7


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 FBXW7-SETD7


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/:153456093/:140417675)
- 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
FBXW7

Q969H0

.
FUNCTION: Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter bring them to the SCF complex for ubiquitination (PubMed:22748924, PubMed:17434132, PubMed:26976582, PubMed:28727686). Identified substrates include cyclin-E (CCNE1 or CCNE2), DISC1, JUN, MYC, NOTCH1 released notch intracellular domain (NICD), NOTCH2, MCL1, and probably PSEN1 (PubMed:11565034, PubMed:12354302, PubMed:11585921, PubMed:15103331, PubMed:14739463, PubMed:17558397, PubMed:17873522, PubMed:22608923, PubMed:22748924, PubMed:29149593, PubMed:25775507, PubMed:28007894, PubMed:26976582, PubMed:28727686). Acts as a negative regulator of JNK signaling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation (PubMed:14739463). SCF(FBXW7) complex mediates the ubiquitination and subsequent degradation of NFE2L1 (By similarity). Involved in bone homeostasis and negative regulation of osteoclast differentiation (PubMed:29149593). Regulates the amplitude of the cyclic expression of hepatic core clock genes and genes involved in lipid and glucose metabolism via ubiquitination and proteasomal degradation of their transcriptional repressor NR1D1; CDK1-dependent phosphorylation of NR1D1 is necessary for SCF(FBXW7)-mediated ubiquitination (PubMed:27238018). {ECO:0000250|UniProtKB:Q8VBV4, ECO:0000269|PubMed:11565034, ECO:0000269|PubMed:11585921, ECO:0000269|PubMed:14739463, ECO:0000269|PubMed:15103331, ECO:0000269|PubMed:17434132, ECO:0000269|PubMed:17558397, ECO:0000269|PubMed:17873522, ECO:0000269|PubMed:22608923, ECO:0000269|PubMed:22748924, ECO:0000269|PubMed:25775507, ECO:0000269|PubMed:26976582, ECO:0000269|PubMed:27238018, ECO:0000269|PubMed:28007894, ECO:0000269|PubMed:28727686, ECO:0000269|PubMed:29149593, ECO:0000305|PubMed:12354302}.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 FBXW7-SETD7


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 FBXW7-SETD7


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 FBXW7-SETD7


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 FBXW7-SETD7


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