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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:MDM2-CWC25 (FusionGDB2 ID:52399)

Fusion Gene Summary for MDM2-CWC25

check button Fusion gene summary
Fusion gene informationFusion gene name: MDM2-CWC25
Fusion gene ID: 52399
HgeneTgene
Gene symbol

MDM2

CWC25

Gene ID

4193

54883

Gene nameMDM2 proto-oncogeneCWC25 spliceosome associated protein homolog
SynonymsACTFS|HDMX|LSKB|hdm2CCDC49
Cytomap

12q15

17q12

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase Mdm2MDM2 oncogene, E3 ubiquitin protein ligaseMDM2 proto-oncogene, E3 ubiquitin protein ligaseMdm2, p53 E3 ubiquitin protein ligase homologMdm2, transformed 3T3 cell double minute 2, p53 binding proteindouble minute 2, humpre-mRNA-splicing factor CWC25 homologcoiled-coil domain-containing protein 49
Modification date2020032920200313
UniProtAcc.

Q9NXE8

Ensembl transtripts involved in fusion geneENST00000258149, ENST00000356290, 
ENST00000393412, ENST00000428863, 
ENST00000462284, ENST00000540827, 
ENST00000258148, ENST00000299252, 
ENST00000348801, ENST00000350057, 
ENST00000360430, ENST00000393410, 
ENST00000393413, ENST00000478070, 
ENST00000517852, ENST00000544125, 
ENST00000544561, ENST00000545204, 
ENST00000225428, ENST00000536127, 
Fusion gene scores* DoF score39 X 20 X 11=85806 X 6 X 6=216
# samples 476
** MAII scorelog2(47/8580*10)=-4.19024498582191
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/216*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MDM2 [Title/Abstract] AND CWC25 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMDM2(69233840)-CWC25(36957089), # 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
HgeneMDM2

GO:0000122

negative regulation of transcription by RNA polymerase II

9271120|17310983

HgeneMDM2

GO:0006511

ubiquitin-dependent protein catabolic process

11278372|15314173|16173922|17310983

HgeneMDM2

GO:0016567

protein ubiquitination

9450543|15878855|19656744|20153724

HgeneMDM2

GO:0031648

protein destabilization

9529249|10360174|15314173

HgeneMDM2

GO:0032436

positive regulation of proteasomal ubiquitin-dependent protein catabolic process

11278372

HgeneMDM2

GO:0034504

protein localization to nucleus

10360174

HgeneMDM2

GO:0042176

regulation of protein catabolic process

9153395

HgeneMDM2

GO:0043518

negative regulation of DNA damage response, signal transduction by p53 class mediator

9529249|10360174

HgeneMDM2

GO:0045184

establishment of protein localization

10360174

HgeneMDM2

GO:0045892

negative regulation of transcription, DNA-templated

9271120

HgeneMDM2

GO:0065003

protein-containing complex assembly

10608892|12915590

HgeneMDM2

GO:0071157

negative regulation of cell cycle arrest

9529249

HgeneMDM2

GO:0071480

cellular response to gamma radiation

16213212

HgeneMDM2

GO:0072717

cellular response to actinomycin D

15314173

HgeneMDM2

GO:1901797

negative regulation of signal transduction by p53 class mediator

16173922

TgeneCWC25

GO:0000398

mRNA splicing, via spliceosome

29301961


check buttonFusion gene breakpoints across MDM2 (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 CWC25 (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
ChiTaRS5.0N/ACR748127MDM2chr12

69233840

+CWC25chr17

36957089

-


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Fusion Gene ORF analysis for MDM2-CWC25

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-3UTRENST00000258149ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
3UTR-3UTRENST00000356290ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
3UTR-3UTRENST00000393412ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
3UTR-3UTRENST00000428863ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
3UTR-3UTRENST00000462284ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
3UTR-3UTRENST00000540827ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
3UTR-intronENST00000258149ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
3UTR-intronENST00000356290ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
3UTR-intronENST00000393412ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
3UTR-intronENST00000428863ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
3UTR-intronENST00000462284ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
3UTR-intronENST00000540827ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-3UTRENST00000258148ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-3UTRENST00000299252ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-3UTRENST00000348801ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-3UTRENST00000350057ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-3UTRENST00000360430ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-3UTRENST00000393410ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-3UTRENST00000393413ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-3UTRENST00000478070ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-3UTRENST00000517852ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-3UTRENST00000544125ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-3UTRENST00000544561ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-3UTRENST00000545204ENST00000225428MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-intronENST00000258148ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-intronENST00000299252ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-intronENST00000348801ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-intronENST00000350057ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-intronENST00000360430ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-intronENST00000393410ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-intronENST00000393413ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-intronENST00000478070ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-intronENST00000517852ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-intronENST00000544125ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-intronENST00000544561ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-
intron-intronENST00000545204ENST00000536127MDM2chr12

69233840

+CWC25chr17

36957089

-

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 MDM2-CWC25


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 MDM2-CWC25


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/:69233840/:36957089)
- 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
.CWC25

Q9NXE8

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: Involved in pre-mRNA splicing as component of the spliceosome. {ECO:0000269|PubMed:29301961}.

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 MDM2-CWC25


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 MDM2-CWC25


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 MDM2-CWC25


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 MDM2-CWC25


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