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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:FRS2-MDM2 (FusionGDB2 ID:31335)

Fusion Gene Summary for FRS2-MDM2

check button Fusion gene summary
Fusion gene informationFusion gene name: FRS2-MDM2
Fusion gene ID: 31335
HgeneTgene
Gene symbol

FRS2

MDM2

Gene ID

10818

4193

Gene namefibroblast growth factor receptor substrate 2MDM2 proto-oncogene
SynonymsFRS1A|FRS2A|FRS2alpha|SNT|SNT-1|SNT1ACTFS|HDMX|LSKB|hdm2
Cytomap

12q15

12q15

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor receptor substrate 2FGFR signalling adaptorFGFR substrate 2FGFR-signaling adaptor SNTepididymis secretory sperm binding proteinsuc1-associated neurotrophic factor target 1E3 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, hum
Modification date2020031320200329
UniProtAcc.

Q00987

Ensembl transtripts involved in fusion geneENST00000299293, ENST00000549921, 
ENST00000550389, ENST00000397997, 
ENST00000462284, ENST00000356290, 
ENST00000540827, ENST00000258149, 
ENST00000428863, ENST00000393412, 
ENST00000258148, ENST00000544561, 
ENST00000393410, ENST00000393413, 
ENST00000517852, ENST00000545204, 
ENST00000350057, ENST00000360430, 
ENST00000299252, ENST00000348801, 
ENST00000478070, ENST00000544125, 
Fusion gene scores* DoF score71 X 15 X 14=1491012 X 10 X 6=720
# samples 7312
** MAII scorelog2(73/14910*10)=-4.35223998340343
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/720*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FRS2 [Title/Abstract] AND MDM2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMDM2(69218431)-FRS2(69924645), # samples:1
FRS2(69925836)-MDM2(69202988), # samples:2
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
TgeneMDM2

GO:0000122

negative regulation of transcription by RNA polymerase II

9271120|17310983

TgeneMDM2

GO:0006511

ubiquitin-dependent protein catabolic process

11278372|15314173|16173922|17310983

TgeneMDM2

GO:0016567

protein ubiquitination

9450543|15878855|19656744|20153724

TgeneMDM2

GO:0031648

protein destabilization

9529249|10360174|15314173

TgeneMDM2

GO:0032436

positive regulation of proteasomal ubiquitin-dependent protein catabolic process

11278372

TgeneMDM2

GO:0034504

protein localization to nucleus

10360174

TgeneMDM2

GO:0042176

regulation of protein catabolic process

9153395

TgeneMDM2

GO:0043518

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

9529249|10360174

TgeneMDM2

GO:0045184

establishment of protein localization

10360174

TgeneMDM2

GO:0045892

negative regulation of transcription, DNA-templated

9271120

TgeneMDM2

GO:0065003

protein-containing complex assembly

10608892|12915590

TgeneMDM2

GO:0071157

negative regulation of cell cycle arrest

9529249

TgeneMDM2

GO:0071480

cellular response to gamma radiation

16213212

TgeneMDM2

GO:0072717

cellular response to actinomycin D

15314173

TgeneMDM2

GO:1901797

negative regulation of signal transduction by p53 class mediator

16173922


check buttonFusion gene breakpoints across FRS2 (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 MDM2 (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
ChimerDB4LUADTCGA-49-4501-01AFRS2chr12

69925836

+MDM2chr12

69202988

+
ChimerDB4LUADTCGA-49-4501-01AFRS2chr12

69925836

-MDM2chr12

69202988

+


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Fusion Gene ORF analysis for FRS2-MDM2

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-3CDSENST00000299293ENST00000462284FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000299293ENST00000356290FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000299293ENST00000540827FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000299293ENST00000258149FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000299293ENST00000428863FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000299293ENST00000393412FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000299293ENST00000258148FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000299293ENST00000544561FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000299293ENST00000393410FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000299293ENST00000393413FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000299293ENST00000517852FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000299293ENST00000545204FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000299293ENST00000350057FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000299293ENST00000360430FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000299293ENST00000299252FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-intronENST00000299293ENST00000348801FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-intronENST00000299293ENST00000478070FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-intronENST00000299293ENST00000544125FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-3CDSENST00000549921ENST00000462284FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000549921ENST00000356290FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000549921ENST00000540827FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000549921ENST00000258149FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000549921ENST00000428863FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000549921ENST00000393412FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000549921ENST00000258148FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000549921ENST00000544561FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000549921ENST00000393410FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000549921ENST00000393413FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000549921ENST00000517852FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000549921ENST00000545204FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000549921ENST00000350057FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000549921ENST00000360430FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000549921ENST00000299252FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-intronENST00000549921ENST00000348801FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-intronENST00000549921ENST00000478070FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-intronENST00000549921ENST00000544125FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-3CDSENST00000550389ENST00000462284FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-5UTRENST00000550389ENST00000356290FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-5UTRENST00000550389ENST00000540827FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-5UTRENST00000550389ENST00000258149FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-5UTRENST00000550389ENST00000428863FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-5UTRENST00000550389ENST00000393412FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-5UTRENST00000550389ENST00000258148FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-5UTRENST00000550389ENST00000544561FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-5UTRENST00000550389ENST00000393410FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-5UTRENST00000550389ENST00000393413FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-5UTRENST00000550389ENST00000517852FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-5UTRENST00000550389ENST00000545204FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-5UTRENST00000550389ENST00000350057FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-5UTRENST00000550389ENST00000360430FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-5UTRENST00000550389ENST00000299252FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-intronENST00000550389ENST00000348801FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-intronENST00000550389ENST00000478070FRS2chr12

69925836

+MDM2chr12

69202988

+
intron-intronENST00000550389ENST00000544125FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-3CDSENST00000397997ENST00000462284FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000397997ENST00000356290FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000397997ENST00000540827FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000397997ENST00000258149FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000397997ENST00000428863FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000397997ENST00000393412FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000397997ENST00000258148FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000397997ENST00000544561FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000397997ENST00000393410FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000397997ENST00000393413FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000397997ENST00000517852FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000397997ENST00000545204FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000397997ENST00000350057FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000397997ENST00000360430FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-5UTRENST00000397997ENST00000299252FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-intronENST00000397997ENST00000348801FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-intronENST00000397997ENST00000478070FRS2chr12

69925836

+MDM2chr12

69202988

+
5UTR-intronENST00000397997ENST00000544125FRS2chr12

69925836

+MDM2chr12

69202988

+

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 FRS2-MDM2


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)
FRS2chr1269925836+MDM2chr1269202991+5.76E-081
FRS2chr1269925836+MDM2chr1269202991+5.76E-081

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 FRS2-MDM2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.MDM2

Q00987

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: E3 ubiquitin-protein ligase that mediates ubiquitination of p53/TP53, leading to its degradation by the proteasome. Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Also acts as a ubiquitin ligase E3 toward itself and ARRB1. Permits the nuclear export of p53/TP53. Promotes proteasome-dependent ubiquitin-independent degradation of retinoblastoma RB1 protein. Inhibits DAXX-mediated apoptosis by inducing its ubiquitination and degradation. Component of the TRIM28/KAP1-MDM2-p53/TP53 complex involved in stabilizing p53/TP53. Also component of the TRIM28/KAP1-ERBB4-MDM2 complex which links growth factor and DNA damage response pathways. Mediates ubiquitination and subsequent proteasome degradation of DYRK2 in nucleus. Ubiquitinates IGF1R and SNAI1 and promotes them to proteasomal degradation (PubMed:12821780, PubMed:15053880, PubMed:15195100, PubMed:15632057, PubMed:16337594, PubMed:17290220, PubMed:19098711, PubMed:19219073, PubMed:19837670, PubMed:19965871, PubMed:20173098, PubMed:20385133, PubMed:20858735, PubMed:22128911). Ubiquitinates DCX, leading to DCX degradation and reduction of the dendritic spine density of olfactory bulb granule cells (By similarity). Ubiquitinates DLG4, leading to proteasomal degradation of DLG4 which is required for AMPA receptor endocytosis (By similarity). Negatively regulates NDUFS1, leading to decreased mitochondrial respiration, marked oxidative stress, and commitment to the mitochondrial pathway of apoptosis (PubMed:30879903). Binds NDUFS1 leading to its cytosolic retention rather than mitochondrial localization resulting in decreased supercomplex assembly (interactions between complex I and complex III), decreased complex I activity, ROS production, and apoptosis (PubMed:30879903). {ECO:0000250|UniProtKB:P23804, ECO:0000269|PubMed:12821780, ECO:0000269|PubMed:15053880, ECO:0000269|PubMed:15195100, ECO:0000269|PubMed:15632057, ECO:0000269|PubMed:16337594, ECO:0000269|PubMed:17290220, ECO:0000269|PubMed:19098711, ECO:0000269|PubMed:19219073, ECO:0000269|PubMed:19837670, ECO:0000269|PubMed:19965871, ECO:0000269|PubMed:20173098, ECO:0000269|PubMed:20385133, ECO:0000269|PubMed:20858735, ECO:0000269|PubMed:22128911, ECO:0000269|PubMed:30879903}.

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 FRS2-MDM2


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 FRS2-MDM2


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 FRS2-MDM2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMDM2Q00987DB14548Zinc sulfate, unspecified formBinderSmall moleculeApproved|Experimental
TgeneMDM2Q00987DB01593ZincSmall moleculeApproved|Investigational
TgeneMDM2Q00987DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneMDM2Q00987DB14533Zinc chlorideBinderSmall moleculeApproved|Investigational

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Related Diseases for FRS2-MDM2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMDM2C0007131Non-Small Cell Lung Carcinoma2CTD_human
TgeneMDM2C0006142Malignant neoplasm of breast1CTD_human
TgeneMDM2C0007621Neoplastic Cell Transformation1CTD_human
TgeneMDM2C0019693HIV Infections1CTD_human
TgeneMDM2C0021364Male infertility1CTD_human
TgeneMDM2C0025202melanoma1CTD_human
TgeneMDM2C0032927Precancerous Conditions1CTD_human
TgeneMDM2C0033578Prostatic Neoplasms1CTD_human
TgeneMDM2C0085390Li-Fraumeni Syndrome1ORPHANET
TgeneMDM2C0263859Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome1CTD_human
TgeneMDM2C0282313Condition, Preneoplastic1CTD_human
TgeneMDM2C0376358Malignant neoplasm of prostate1CTD_human
TgeneMDM2C0678222Breast Carcinoma1CTD_human
TgeneMDM2C0848676Subfertility, Male1CTD_human
TgeneMDM2C0917731Male sterility1CTD_human
TgeneMDM2C1257931Mammary Neoplasms, Human1CTD_human
TgeneMDM2C1458155Mammary Neoplasms1CTD_human
TgeneMDM2C4505456HIV Coinfection1CTD_human
TgeneMDM2C4704874Mammary Carcinoma, Human1CTD_human