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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:MYC-PVT1 (FusionGDB2 ID:56238)

Fusion Gene Summary for MYC-PVT1

check button Fusion gene summary
Fusion gene informationFusion gene name: MYC-PVT1
Fusion gene ID: 56238
HgeneTgene
Gene symbol

MYC

PVT1

Gene ID

4609

5820

Gene nameMYC proto-oncogene, bHLH transcription factorPvt1 oncogene
SynonymsMRTL|MYCC|bHLHe39|c-MycLINC00079|MIR1204HG|NCRNA00079|onco-lncRNA-100
Cytomap

8q24.21

8q24.21

Type of geneprotein-codingncRNA
Descriptionmyc proto-oncogene proteinavian myelocytomatosis viral oncogene homologclass E basic helix-loop-helix protein 39myc-related translation/localization regulatory factorproto-oncogene c-Myctranscription factor p64v-myc avian myelocytomatosis viral oncoCXCR4/PVT1 fusionHIST1H2BD/PVT1 fusionMIR1204, MIR1205, MIR1206 and MIR1207 hostOncogene PVT-1 (MYC activator)PVT1/CASC8 fusionPVT1/CCDC26 fusionPVT1/IFRD1 fusionPVT1/IRF2BP2 fusionPVT1/LINC00824 fusionPVT1/MYC fusionPVT1/NFIL3 fusionPVT1/NSMCE
Modification date2020032920200322
UniProtAcc

P01106

.
Ensembl transtripts involved in fusion geneENST00000377970, ENST00000524013, 
ENST00000259523, 
ENST00000408388, 
Fusion gene scores* DoF score18 X 21 X 3=113442 X 40 X 11=18480
# samples 2254
** MAII scorelog2(22/1134*10)=-2.36584521141757
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(54/18480*10)=-5.09686153925259
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYC [Title/Abstract] AND PVT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPVT1(128806980)-MYC(128750494), # samples:2
PVT1(128903244)-MYC(128750494), # samples:2
PVT1(128903244)-MYC(128750497), # samples:2
PVT1(128806980)-MYC(128750497), # samples:2
PVT1(128806979)-MYC(128750493), # samples:2
MYC(128748869)-PVT1(129108764), # samples:1
MYC(128753382)-PVT1(128894556), # 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
HgeneMYC

GO:0000122

negative regulation of transcription by RNA polymerase II

9924025|19160485

HgeneMYC

GO:0006338

chromatin remodeling

21533051

HgeneMYC

GO:0006879

cellular iron ion homeostasis

9924025

HgeneMYC

GO:0006974

cellular response to DNA damage stimulus

17873522

HgeneMYC

GO:0007050

cell cycle arrest

10962037

HgeneMYC

GO:0008284

positive regulation of cell proliferation

15994933|19160485

HgeneMYC

GO:0010332

response to gamma radiation

19179467

HgeneMYC

GO:0010468

regulation of gene expression

21447833

HgeneMYC

GO:0010628

positive regulation of gene expression

15459207

HgeneMYC

GO:0032986

protein-DNA complex disassembly

19160485

HgeneMYC

GO:0035690

cellular response to drug

17873522|19179467

HgeneMYC

GO:0043280

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process

19179467

HgeneMYC

GO:0045893

positive regulation of transcription, DNA-templated

10962037|17558397|18818310

HgeneMYC

GO:0045944

positive regulation of transcription by RNA polymerase II

10723141

HgeneMYC

GO:0048146

positive regulation of fibroblast proliferation

9924025|18987311

HgeneMYC

GO:0048147

negative regulation of fibroblast proliferation

10962037

HgeneMYC

GO:0050679

positive regulation of epithelial cell proliferation

18987311

HgeneMYC

GO:0051276

chromosome organization

10962037

HgeneMYC

GO:0051782

negative regulation of cell division

10962037

HgeneMYC

GO:0070371

ERK1 and ERK2 cascade

15459207

HgeneMYC

GO:0071456

cellular response to hypoxia

15459207

HgeneMYC

GO:2001022

positive regulation of response to DNA damage stimulus

19179467


check buttonFusion gene breakpoints across MYC (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 PVT1 (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
ChimerDB4BRCATCGA-AR-A2LR-01AMYCchr8

128753382

+PVT1chr8

128894556

+
ChimerDB4OVTCGA-59-2351-01AMYCchr8

128748869

+PVT1chr8

129108764

+


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Fusion Gene ORF analysis for MYC-PVT1

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
3UTR-intronENST00000377970ENST00000408388MYCchr8

128753382

+PVT1chr8

128894556

+
3UTR-intronENST00000524013ENST00000408388MYCchr8

128753382

+PVT1chr8

128894556

+
5CDS-intronENST00000377970ENST00000408388MYCchr8

128748869

+PVT1chr8

129108764

+
5CDS-intronENST00000524013ENST00000408388MYCchr8

128748869

+PVT1chr8

129108764

+
5UTR-intronENST00000259523ENST00000408388MYCchr8

128748869

+PVT1chr8

129108764

+
intron-intronENST00000259523ENST00000408388MYCchr8

128753382

+PVT1chr8

128894556

+

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 MYC-PVT1


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 MYC-PVT1


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/:128806980/:128750494)
- 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
MYC

P01106

.
FUNCTION: Transcription factor that binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5'-CAC[GA]TG-3'. Activates the transcription of growth-related genes. Binds to the VEGFA promoter, promoting VEGFA production and subsequent sprouting angiogenesis (PubMed:24940000). Regulator of somatic reprogramming, controls self-renewal of embryonic stem cells. Functions with TAF6L to activate target gene expression through RNA polymerase II pause release (By similarity). {ECO:0000250|UniProtKB:P01108, ECO:0000269|PubMed:24940000, ECO:0000269|PubMed:25956029}.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 MYC-PVT1


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 MYC-PVT1


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 MYC-PVT1


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 MYC-PVT1


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