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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:BBX-C3orf58 (FusionGDB2 ID:HG56987TG205428)

Fusion Gene Summary for BBX-C3orf58

check button Fusion gene summary
Fusion gene informationFusion gene name: BBX-C3orf58
Fusion gene ID: hg56987tg205428
HgeneTgene
Gene symbol

BBX

C3orf58

Gene ID

56987

205428

Gene nameBBX high mobility group box domain containingdivergent protein kinase domain 2A
SynonymsARTC1|HBP2|HSPC339|MDS001C3orf58|DIA1|GoPro49|HASF
Cytomap('BBX')('C3orf58')

3q13.12

3q24

Type of geneprotein-codingprotein-coding
DescriptionHMG box transcription factor BBXAg recognized by Treg cells 1BBX, HMG-box containingHMG box-containing protein 2bobby sox homologx 001 proteindivergent protein kinase domain 2AGolgi Protein of 49 kDaGolgi protein GoPro49UPF0672 protein C3orf58deleted in autism 1deleted in autism protein 1hypoxia and AKT-induced stem cell factorhypoxia and Akt induced stem cell factor
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000325805, ENST00000402543, 
ENST00000406780, ENST00000415149, 
ENST00000416476, ENST00000473542, 
Fusion gene scores* DoF score14 X 12 X 8=13444 X 3 X 4=48
# samples 174
** MAII scorelog2(17/1344*10)=-2.98292648664106
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BBX [Title/Abstract] AND C3orf58 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBBX(107364756)-C3orf58(143704385), # 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
TgeneC3orf58

GO:0014066

regulation of phosphatidylinositol 3-kinase signaling

23784961

TgeneC3orf58

GO:0060038

cardiac muscle cell proliferation

23784961



check button Fusion gene information
* 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-BR-8364-01ABBXchr3

107364756

+C3orf58chr3

143704385

+


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Fusion Gene ORF analysis for BBX-C3orf58

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-3CDSENST00000325805ENST00000315691BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-3CDSENST00000402543ENST00000315691BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-3CDSENST00000406780ENST00000315691BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-3CDSENST00000415149ENST00000315691BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-3CDSENST00000416476ENST00000315691BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-5UTRENST00000325805ENST00000441925BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-5UTRENST00000402543ENST00000441925BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-5UTRENST00000406780ENST00000441925BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-5UTRENST00000415149ENST00000441925BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-5UTRENST00000416476ENST00000441925BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-intronENST00000325805ENST00000493396BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-intronENST00000325805ENST00000495414BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-intronENST00000402543ENST00000493396BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-intronENST00000402543ENST00000495414BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-intronENST00000406780ENST00000493396BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-intronENST00000406780ENST00000495414BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-intronENST00000415149ENST00000493396BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-intronENST00000415149ENST00000495414BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-intronENST00000416476ENST00000493396BBXchr3

107364756

+C3orf58chr3

143704385

+
5UTR-intronENST00000416476ENST00000495414BBXchr3

107364756

+C3orf58chr3

143704385

+
intron-3CDSENST00000473542ENST00000315691BBXchr3

107364756

+C3orf58chr3

143704385

+
intron-5UTRENST00000473542ENST00000441925BBXchr3

107364756

+C3orf58chr3

143704385

+
intron-intronENST00000473542ENST00000493396BBXchr3

107364756

+C3orf58chr3

143704385

+
intron-intronENST00000473542ENST00000495414BBXchr3

107364756

+C3orf58chr3

143704385

+

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 BBX-C3orf58


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)
BBXchr3107364756+C3orf58chr3143704384+2.10E-060.99999785
BBXchr3107364756+C3orf58chr3143704384+2.10E-060.99999785


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 BBX-C3orf58


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/:107364756/:143704385)
- 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


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Fusion Gene Sequence for BBX-C3orf58


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 BBX-C3orf58


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 BBX-C3orf58


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 BBX-C3orf58


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