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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:CDC73-TROVE2 (FusionGDB2 ID:HG79577TG6738)

Fusion Gene Summary for CDC73-TROVE2

check button Fusion gene summary
Fusion gene informationFusion gene name: CDC73-TROVE2
Fusion gene ID: hg79577tg6738
HgeneTgene
Gene symbol

CDC73

TROVE2

Gene ID

79577

6738

Gene namecell division cycle 73Ro60, Y RNA binding protein
SynonymsC1orf28|FIHP|HPTJT|HRPT1|HRPT2|HYXRORNP|SSA2|TROVE2
Cytomap('CDC73')('TROVE2')

1q31.2

1q31.2

Type of geneprotein-codingprotein-coding
DescriptionparafibrominFamilial isolated hyperparathyroidismPaf1/RNA polymerase II complex componentcell division cycle 73 Paf1/RNA polymerase II complex component-like proteincell division cycle 73, Paf1/RNA polymerase II complex component, homologcell divisio60 kDa SS-A/Ro ribonucleoprotein60 kDa ribonucleoprotein RoRo/SSA 60kDaSjogren syndrome antigen A2 (60kD, ribonucleoprotein autoantigen SS-A/Ro)TROVE domain family member 2gastric cancer multi-drug resistance proteinro60 autoantigensjoegren syndrom
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000367435, ENST00000477868, 
ENST00000367435, ENST00000477868, 
Fusion gene scores* DoF score8 X 6 X 6=2888 X 8 X 4=256
# samples 89
** MAII scorelog2(8/288*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/256*10)=-1.50814690367033
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDC73 [Title/Abstract] AND TROVE2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDC73(193121574)-TROVE2(193060781), # samples:2
Anticipated loss of major functional domain due to fusion event.TROVE2-CDC73 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
TROVE2-CDC73 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
TROVE2-CDC73 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
TROVE2-CDC73 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
TROVE2-CDC73 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
TROVE2-CDC73 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneCDC73

GO:0008285

negative regulation of cell proliferation

16989776

HgeneCDC73

GO:0010390

histone monoubiquitination

16307923

HgeneCDC73

GO:0030177

positive regulation of Wnt signaling pathway

16630820

HgeneCDC73

GO:0032968

positive regulation of transcription elongation from RNA polymerase II promoter

20178742

HgeneCDC73

GO:0033523

histone H2B ubiquitination

16307923

HgeneCDC73

GO:0045638

negative regulation of myeloid cell differentiation

20541477

HgeneCDC73

GO:0045944

positive regulation of transcription by RNA polymerase II

20178742

HgeneCDC73

GO:2000134

negative regulation of G1/S transition of mitotic cell cycle

16989776

TgeneTROVE2

GO:0010468

regulation of gene expression

26382853

TgeneTROVE2

GO:0035457

cellular response to interferon-alpha

26382853



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
ChimerDB4LIHCTCGA-BC-A10T-01ACDC73chr1

193121574

-TROVE2chr1

193060781

+
ChimerDB4LIHCTCGA-BC-A10T-01ACDC73chr1

193121574

+TROVE2chr1

193060781

+


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Fusion Gene ORF analysis for CDC73-TROVE2

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-3UTRENST00000367435ENST00000367443CDC73chr1

193121574

+TROVE2chr1

193060781

+
5CDS-intronENST00000367435ENST00000367441CDC73chr1

193121574

+TROVE2chr1

193060781

+
5CDS-intronENST00000367435ENST00000367444CDC73chr1

193121574

+TROVE2chr1

193060781

+
5CDS-intronENST00000367435ENST00000367445CDC73chr1

193121574

+TROVE2chr1

193060781

+
5CDS-intronENST00000367435ENST00000367446CDC73chr1

193121574

+TROVE2chr1

193060781

+
5CDS-intronENST00000367435ENST00000400968CDC73chr1

193121574

+TROVE2chr1

193060781

+
5CDS-intronENST00000367435ENST00000416058CDC73chr1

193121574

+TROVE2chr1

193060781

+
5CDS-intronENST00000367435ENST00000432079CDC73chr1

193121574

+TROVE2chr1

193060781

+
5CDS-intronENST00000367435ENST00000460715CDC73chr1

193121574

+TROVE2chr1

193060781

+
intron-3UTRENST00000477868ENST00000367443CDC73chr1

193121574

+TROVE2chr1

193060781

+
intron-intronENST00000477868ENST00000367441CDC73chr1

193121574

+TROVE2chr1

193060781

+
intron-intronENST00000477868ENST00000367444CDC73chr1

193121574

+TROVE2chr1

193060781

+
intron-intronENST00000477868ENST00000367445CDC73chr1

193121574

+TROVE2chr1

193060781

+
intron-intronENST00000477868ENST00000367446CDC73chr1

193121574

+TROVE2chr1

193060781

+
intron-intronENST00000477868ENST00000400968CDC73chr1

193121574

+TROVE2chr1

193060781

+
intron-intronENST00000477868ENST00000416058CDC73chr1

193121574

+TROVE2chr1

193060781

+
intron-intronENST00000477868ENST00000432079CDC73chr1

193121574

+TROVE2chr1

193060781

+
intron-intronENST00000477868ENST00000460715CDC73chr1

193121574

+TROVE2chr1

193060781

+

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 CDC73-TROVE2


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)
CDC73chr1193121574+TROVE2chr1193060780+7.56E-050.9999244
CDC73chr1193121574+TROVE2chr1193060780+7.56E-050.9999244


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 CDC73-TROVE2


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/:193121574/:193060781)
- 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 CDC73-TROVE2


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 CDC73-TROVE2


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 CDC73-TROVE2


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 CDC73-TROVE2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDC73C1704981Hyperparathyroidism-Jaw Tumor Syndrome9CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCDC73C1840402HYPERPARATHYROIDISM 16CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCDC73C0687150Parathyroid Gland Adenocarcinoma2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneCDC73C4551961Familial Isolated Hyperparathyroidism1CTD_human;ORPHANET