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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:MDM4-CYP3A5 (FusionGDB2 ID:52429)

Fusion Gene Summary for MDM4-CYP3A5

check button Fusion gene summary
Fusion gene informationFusion gene name: MDM4-CYP3A5
Fusion gene ID: 52429
HgeneTgene
Gene symbol

MDM4

CYP3A5

Gene ID

4194

1577

Gene nameMDM4 regulator of p53cytochrome P450 family 3 subfamily A member 5
SynonymsHDMX|MDMX|MRP1CP35|CYPIIIA5|P450PCN3|PCN3
Cytomap

1q32.1

7q22.1

Type of geneprotein-codingprotein-coding
Descriptionprotein Mdm4MDM4 protein variant GMDM4 protein variant YMDM4, p53 regulatorMDM4-related protein 1Mdm4 p53 binding protein homologdouble minute 4, human homolog of; p53-binding proteinmdm2-like p53-binding proteinprotein Mdmxcytochrome P450 3A5aryl hydrocarbon hydroxylasecytochrome P450 HLp2cytochrome P450, family 3, subfamily A, polypeptide 5cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5cytochrome P450-PCN3flavoprotein-linked monooxygenasemicroso
Modification date2020032920200320
UniProtAcc

O15151

P20815

Ensembl transtripts involved in fusion geneENST00000367182, ENST00000463049, 
ENST00000367180, ENST00000367183, 
ENST00000391947, ENST00000454264, 
ENST00000507825, 		ENST00000222982, 
ENST00000339843, ENST00000343703, 
ENST00000439761, ENST00000480723, 
Fusion gene scores* DoF score5 X 5 X 3=758 X 5 X 4=160
# samples 69
** MAII scorelog2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/160*10)=-0.830074998557688
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MDM4 [Title/Abstract] AND CYP3A5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMDM4(204518975)-CYP3A5(99257879), # 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
HgeneMDM4

GO:0000122

negative regulation of transcription by RNA polymerase II

9226370

HgeneMDM4

GO:0065003

protein-containing complex assembly

10608892

TgeneCYP3A5

GO:0002933

lipid hydroxylation

14559847

TgeneCYP3A5

GO:0008202

steroid metabolic process

14559847

TgeneCYP3A5

GO:0008210

estrogen metabolic process

12865317

TgeneCYP3A5

GO:0009822

alkaloid catabolic process

15039299

TgeneCYP3A5

GO:0042573

retinoic acid metabolic process

11093772

TgeneCYP3A5

GO:0042737

drug catabolic process

15039299

TgeneCYP3A5

GO:0070989

oxidative demethylation

15039299


check buttonFusion gene breakpoints across MDM4 (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 CYP3A5 (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
ChimerDB4STADTCGA-BR-8059-01AMDM4chr1

204518975

+CYP3A5chr7

99257879

-


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Fusion Gene ORF analysis for MDM4-CYP3A5

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-intronENST00000367182ENST00000222982MDM4chr1

204518975

+CYP3A5chr7

99257879

-
3UTR-intronENST00000367182ENST00000339843MDM4chr1

204518975

+CYP3A5chr7

99257879

-
3UTR-intronENST00000367182ENST00000343703MDM4chr1

204518975

+CYP3A5chr7

99257879

-
3UTR-intronENST00000367182ENST00000439761MDM4chr1

204518975

+CYP3A5chr7

99257879

-
3UTR-intronENST00000367182ENST00000480723MDM4chr1

204518975

+CYP3A5chr7

99257879

-
3UTR-intronENST00000463049ENST00000222982MDM4chr1

204518975

+CYP3A5chr7

99257879

-
3UTR-intronENST00000463049ENST00000339843MDM4chr1

204518975

+CYP3A5chr7

99257879

-
3UTR-intronENST00000463049ENST00000343703MDM4chr1

204518975

+CYP3A5chr7

99257879

-
3UTR-intronENST00000463049ENST00000439761MDM4chr1

204518975

+CYP3A5chr7

99257879

-
3UTR-intronENST00000463049ENST00000480723MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000367180ENST00000222982MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000367180ENST00000339843MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000367180ENST00000343703MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000367180ENST00000439761MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000367180ENST00000480723MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000367183ENST00000222982MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000367183ENST00000339843MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000367183ENST00000343703MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000367183ENST00000439761MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000367183ENST00000480723MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000391947ENST00000222982MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000391947ENST00000339843MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000391947ENST00000343703MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000391947ENST00000439761MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000391947ENST00000480723MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000454264ENST00000222982MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000454264ENST00000339843MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000454264ENST00000343703MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000454264ENST00000439761MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000454264ENST00000480723MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000507825ENST00000222982MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000507825ENST00000339843MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000507825ENST00000343703MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000507825ENST00000439761MDM4chr1

204518975

+CYP3A5chr7

99257879

-
intron-intronENST00000507825ENST00000480723MDM4chr1

204518975

+CYP3A5chr7

99257879

-

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 MDM4-CYP3A5


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 MDM4-CYP3A5


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/:204518975/:99257879)
- 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
MDM4

O15151

CYP3A5

P20815

FUNCTION: Inhibits p53/TP53- and TP73/p73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Inhibits degradation of MDM2. Can reverse MDM2-targeted degradation of TP53 while maintaining suppression of TP53 transactivation and apoptotic functions. {ECO:0000269|PubMed:16163388, ECO:0000269|PubMed:16511572}.FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of steroid hormones and vitamins (PubMed:2732228, PubMed:10681376, PubMed:11093772, PubMed:12865317). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds (PubMed:12865317, PubMed:2732228, PubMed:10681376, PubMed:11093772). Exhibits high catalytic activity for the formation of catechol estrogens from 17beta-estradiol (E2) and estrone (E1), namely 2-hydroxy E1 and E2 (PubMed:12865317). Catalyzes 6beta-hydroxylation of the steroid hormones testosterone, progesterone, and androstenedione (PubMed:2732228). Catalyzes the oxidative conversion of all-trans-retinol to all-trans-retinal, a rate-limiting step for the biosynthesis of all-trans-retinoic acid (atRA) (PubMed:10681376). Further metabolizes all trans-retinoic acid (atRA) to 4-hydroxyretinoate and may play a role in hepatic atRA clearance (PubMed:11093772). Also involved in the oxidative metabolism of xenobiotics, including calcium channel blocking drug nifedipine and immunosuppressive drug cyclosporine (PubMed:2732228). {ECO:0000269|PubMed:10681376, ECO:0000269|PubMed:11093772, ECO:0000269|PubMed:12865317, ECO:0000269|PubMed:2732228}.

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 MDM4-CYP3A5


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 MDM4-CYP3A5


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 MDM4-CYP3A5


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 MDM4-CYP3A5


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