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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:TRIB1-SAE1 (FusionGDB2 ID:93968)

Fusion Gene Summary for TRIB1-SAE1

check button Fusion gene summary
Fusion gene informationFusion gene name: TRIB1-SAE1
Fusion gene ID: 93968
HgeneTgene
Gene symbol

TRIB1

SAE1

Gene ID

10221

10055

Gene nametribbles pseudokinase 1SUMO1 activating enzyme subunit 1
SynonymsC8FW|GIG-2|GIG2|SKIP1|TRB-1|TRB1AOS1|HSPC140|SUA1|UBLE1A
Cytomap

8q24.13

19q13.32

Type of geneprotein-codingprotein-coding
Descriptiontribbles homolog 1G-protein-coupled receptor induced proteinG-protein-coupled receptor-induced gene 2 proteinG-protein-coupled receptor-induced protein 2phosphoprotein regulated by mitogenic pathwaystribbles-like protein 1SUMO-activating enzyme subunit 1SUMO-1 activating enzyme E1 N subunitSUMO-1 activating enzyme subunit 1activator of SUMO1sentrin/SUMO-activating protein AOS1ubiquitin-like 1-activating enzyme E1Aubiquitin-like protein SUMO-1 activating enzyme
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000311922, ENST00000519576, 
ENST00000520847, ENST00000521778, 
ENST00000392776, ENST00000270225, 
ENST00000413379, ENST00000540850, 
ENST00000598840, 
Fusion gene scores* DoF score4 X 2 X 4=329 X 8 X 10=720
# samples 613
** MAII scorelog2(6/32*10)=0.906890595608518
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(13/720*10)=-2.46948528330122
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TRIB1 [Title/Abstract] AND SAE1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTRIB1(126443504)-SAE1(47706928), # samples:3
Anticipated loss of major functional domain due to fusion event.TRIB1-SAE1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
TRIB1-SAE1 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
TRIB1-SAE1 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
HgeneTRIB1

GO:0043405

regulation of MAP kinase activity

15299019

TgeneSAE1

GO:0016925

protein sumoylation

15660128|20164921

TgeneSAE1

GO:0033235

positive regulation of protein sumoylation

10187858


check buttonFusion gene breakpoints across TRIB1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across SAE1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4BLCATCGA-XF-AAN0-01ATRIB1chr8

126443504

-SAE1chr19

47706928

+
ChimerDB4BLCATCGA-XF-AAN0-01ATRIB1chr8

126443504

+SAE1chr19

47706928

+
ChimerDB4BLCATCGA-XF-AAN0TRIB1chr8

126443504

+SAE1chr19

47706927

+
ChimerDB4BLCATCGA-XF-AAN0TRIB1chr8

126443504

+SAE1chr19

47706928

+
ChimerDB4BLCATCGA-XF-AAN0TRIB1chr8

126443504

+SAE1chr19

47712416

+


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Fusion Gene ORF analysis for TRIB1-SAE1

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-3UTRENST00000311922ENST00000392776TRIB1chr8

126443504

+SAE1chr19

47712416

+
5CDS-intronENST00000311922ENST00000270225TRIB1chr8

126443504

+SAE1chr19

47706928

+
5CDS-intronENST00000311922ENST00000270225TRIB1chr8

126443504

+SAE1chr19

47706927

+
5CDS-intronENST00000311922ENST00000392776TRIB1chr8

126443504

+SAE1chr19

47706928

+
5CDS-intronENST00000311922ENST00000392776TRIB1chr8

126443504

+SAE1chr19

47706927

+
5CDS-intronENST00000311922ENST00000413379TRIB1chr8

126443504

+SAE1chr19

47706928

+
5CDS-intronENST00000311922ENST00000413379TRIB1chr8

126443504

+SAE1chr19

47706927

+
5CDS-intronENST00000311922ENST00000540850TRIB1chr8

126443504

+SAE1chr19

47706928

+
5CDS-intronENST00000311922ENST00000540850TRIB1chr8

126443504

+SAE1chr19

47706927

+
5CDS-intronENST00000311922ENST00000598840TRIB1chr8

126443504

+SAE1chr19

47706928

+
5CDS-intronENST00000311922ENST00000598840TRIB1chr8

126443504

+SAE1chr19

47706927

+
Frame-shiftENST00000311922ENST00000270225TRIB1chr8

126443504

+SAE1chr19

47712416

+
Frame-shiftENST00000311922ENST00000413379TRIB1chr8

126443504

+SAE1chr19

47712416

+
Frame-shiftENST00000311922ENST00000598840TRIB1chr8

126443504

+SAE1chr19

47712416

+
In-frameENST00000311922ENST00000540850TRIB1chr8

126443504

+SAE1chr19

47712416

+
intron-3CDSENST00000519576ENST00000270225TRIB1chr8

126443504

+SAE1chr19

47712416

+
intron-3CDSENST00000519576ENST00000413379TRIB1chr8

126443504

+SAE1chr19

47712416

+
intron-3CDSENST00000519576ENST00000540850TRIB1chr8

126443504

+SAE1chr19

47712416

+
intron-3CDSENST00000519576ENST00000598840TRIB1chr8

126443504

+SAE1chr19

47712416

+
intron-3CDSENST00000520847ENST00000270225TRIB1chr8

126443504

+SAE1chr19

47712416

+
intron-3CDSENST00000520847ENST00000413379TRIB1chr8

126443504

+SAE1chr19

47712416

+
intron-3CDSENST00000520847ENST00000540850TRIB1chr8

126443504

+SAE1chr19

47712416

+
intron-3CDSENST00000520847ENST00000598840TRIB1chr8

126443504

+SAE1chr19

47712416

+
intron-3CDSENST00000521778ENST00000270225TRIB1chr8

126443504

+SAE1chr19

47712416

+
intron-3CDSENST00000521778ENST00000413379TRIB1chr8

126443504

+SAE1chr19

47712416

+
intron-3CDSENST00000521778ENST00000540850TRIB1chr8

126443504

+SAE1chr19

47712416

+
intron-3CDSENST00000521778ENST00000598840TRIB1chr8

126443504

+SAE1chr19

47712416

+
intron-3UTRENST00000519576ENST00000392776TRIB1chr8

126443504

+SAE1chr19

47712416

+
intron-3UTRENST00000520847ENST00000392776TRIB1chr8

126443504

+SAE1chr19

47712416

+
intron-3UTRENST00000521778ENST00000392776TRIB1chr8

126443504

+SAE1chr19

47712416

+
intron-intronENST00000519576ENST00000270225TRIB1chr8

126443504

+SAE1chr19

47706928

+
intron-intronENST00000519576ENST00000270225TRIB1chr8

126443504

+SAE1chr19

47706927

+
intron-intronENST00000519576ENST00000392776TRIB1chr8

126443504

+SAE1chr19

47706928

+
intron-intronENST00000519576ENST00000392776TRIB1chr8

126443504

+SAE1chr19

47706927

+
intron-intronENST00000519576ENST00000413379TRIB1chr8

126443504

+SAE1chr19

47706928

+
intron-intronENST00000519576ENST00000413379TRIB1chr8

126443504

+SAE1chr19

47706927

+
intron-intronENST00000519576ENST00000540850TRIB1chr8

126443504

+SAE1chr19

47706928

+
intron-intronENST00000519576ENST00000540850TRIB1chr8

126443504

+SAE1chr19

47706927

+
intron-intronENST00000519576ENST00000598840TRIB1chr8

126443504

+SAE1chr19

47706928

+
intron-intronENST00000519576ENST00000598840TRIB1chr8

126443504

+SAE1chr19

47706927

+
intron-intronENST00000520847ENST00000270225TRIB1chr8

126443504

+SAE1chr19

47706928

+
intron-intronENST00000520847ENST00000270225TRIB1chr8

126443504

+SAE1chr19

47706927

+
intron-intronENST00000520847ENST00000392776TRIB1chr8

126443504

+SAE1chr19

47706928

+
intron-intronENST00000520847ENST00000392776TRIB1chr8

126443504

+SAE1chr19

47706927

+
intron-intronENST00000520847ENST00000413379TRIB1chr8

126443504

+SAE1chr19

47706928

+
intron-intronENST00000520847ENST00000413379TRIB1chr8

126443504

+SAE1chr19

47706927

+
intron-intronENST00000520847ENST00000540850TRIB1chr8

126443504

+SAE1chr19

47706928

+
intron-intronENST00000520847ENST00000540850TRIB1chr8

126443504

+SAE1chr19

47706927

+
intron-intronENST00000520847ENST00000598840TRIB1chr8

126443504

+SAE1chr19

47706928

+
intron-intronENST00000520847ENST00000598840TRIB1chr8

126443504

+SAE1chr19

47706927

+
intron-intronENST00000521778ENST00000270225TRIB1chr8

126443504

+SAE1chr19

47706928

+
intron-intronENST00000521778ENST00000270225TRIB1chr8

126443504

+SAE1chr19

47706927

+
intron-intronENST00000521778ENST00000392776TRIB1chr8

126443504

+SAE1chr19

47706928

+
intron-intronENST00000521778ENST00000392776TRIB1chr8

126443504

+SAE1chr19

47706927

+
intron-intronENST00000521778ENST00000413379TRIB1chr8

126443504

+SAE1chr19

47706928

+
intron-intronENST00000521778ENST00000413379TRIB1chr8

126443504

+SAE1chr19

47706927

+
intron-intronENST00000521778ENST00000540850TRIB1chr8

126443504

+SAE1chr19

47706928

+
intron-intronENST00000521778ENST00000540850TRIB1chr8

126443504

+SAE1chr19

47706927

+
intron-intronENST00000521778ENST00000598840TRIB1chr8

126443504

+SAE1chr19

47706928

+
intron-intronENST00000521778ENST00000598840TRIB1chr8

126443504

+SAE1chr19

47706927

+

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)
ENST00000311922TRIB1chr8126443504+ENST00000540850SAE1chr1947712416+11529423321108258

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
ENST00000311922ENST00000540850TRIB1chr8126443504+SAE1chr1947712416+0.188357710.8116423

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Fusion Genomic Features for TRIB1-SAE1


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)
TRIB1chr8126443504+SAE1chr1947712415+0.0002125010.9997875
TRIB1chr8126443504+SAE1chr1947706927+7.48E-060.9999925
TRIB1chr8126443504+SAE1chr1947706927+7.48E-060.9999925
TRIB1chr8126443504+SAE1chr1947712415+0.0002125010.9997875
TRIB1chr8126443504+SAE1chr1947706927+7.48E-060.9999925
TRIB1chr8126443504+SAE1chr1947706927+7.48E-060.9999925

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

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 TRIB1-SAE1


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/chr8:126443504/chr19:47706928)
- 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
HgeneTRIB1chr8:126443504chr19:47712416ENST00000311922+131_338120373.0DomainProtein kinase
HgeneTRIB1chr8:126443504chr19:47712416ENST00000311922+13355_360120373.0MotifCOP1-binding


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Fusion Gene Sequence for TRIB1-SAE1


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.
>93968_93968_1_TRIB1-SAE1_TRIB1_chr8_126443504_ENST00000311922_SAE1_chr19_47712416_ENST00000540850_length(transcript)=1152nt_BP=942nt
AAGGAGGAGTGCACTGGCCGGGATCGGTGCAGCGCTCACACTCACTCACAGTCACTCTCTCTGAGCGCGTCTCGCTCGCTCTCATACACG
CCCGGAGCCCAGGAGCGCTCAGGATCCCGAGCGCCGCGAAAAAGTTCCCCCGGCTTTTGCTGGAGACTCATCGCTTTGGGAAGTGCATTT
GCTTCGTGGCTCCGCCGAGCCTGCTGAATCCTGTCCTCGCGGCTCGGGACCCCGGGATCGCTGACCGCTGCCGCCGCCGCCTCTGCCTCC
CGGACTATCGGCAGCCTCGGCAACAATAGTGGCGGCCGCCCCCAGCGAGGCTCCGGGAGCCCTTGCCTGCGGGGGTCCGGGGACTCGAGC
CGGCCTCCGCCTCCCGGACGCACAGCCAGCGTGGTCCCCGCGTGCAACGCGAGCGCCGGGGAGTGGCTCCTGCTTTGCCCCTCGTGGGGG
CCGAGCCAAGACCAGTCTGCAAACTCCATCCCGCCGGCTGGAAGAAGTCGCGGAGCCGGCACCAAACCCGCAGCGTCTTCCCGCGCGGAT
CCCGGGACTTAAAAAGCCGGGGCCACCCCGGCCCAGGACGGGATGCGGGTCGGTCCGGTGCGCTCTGCCATGAGCGGCGCCTCGCAGCCC
CGCGGCCCGGCCCTGCTCTTCCCAGCCACCCGAGGCGTCCCGGCCAAACGCCTGCTGGACGCCGACGACGCGGCGGCTGTGGCGGCCAAG
TGCCCGCGCCTCTCCGAGTGCTCCAGCCCCCCGGACTACCTCAGCCCCCCCGGCTCGCCCTGCAGCCCGCAGCCCCCGCCTGCCGCTCCG
GGGGCCGGCGGAGGCTCCGGGAGCGCGCCGGGGCCCAGCCGCATCGCCGACTACCTGCTGCTGCCCCTAGCCGAGCGCGAGCATGTGTCC
CGGGCGCTGTGCATCCACACTGGACGCGAGCTGCGCTGCAAGGCCCTGTCTCAGCGGGACCCTCCTCACAACAACTTCTTCTTCTTCGAT
GGCATGAAGGGGAATGGGATTGTGGAGTGCCTTGGCCCCAAGTGAACTCAAGATTTGGCAGCCCCAGAGATGCCAACTGCAGCATGCCCA

>93968_93968_1_TRIB1-SAE1_TRIB1_chr8_126443504_ENST00000311922_SAE1_chr19_47712416_ENST00000540850_length(amino acids)=258AA_BP=203
MPAGVRGLEPASASRTHSQRGPRVQRERRGVAPALPLVGAEPRPVCKLHPAGWKKSRSRHQTRSVFPRGSRDLKSRGHPGPGRDAGRSGA
LCHERRLAAPRPGPALPSHPRRPGQTPAGRRRRGGCGGQVPAPLRVLQPPGLPQPPRLALQPAAPACRSGGRRRLRERAGAQPHRRLPAA

--------------------------------------------------------------

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Fusion Gene PPI Analysis for TRIB1-SAE1


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 TRIB1-SAE1


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 TRIB1-SAE1


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