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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:TP53-ECSIT (FusionGDB2 ID:93202)

Fusion Gene Summary for TP53-ECSIT

check button Fusion gene summary
Fusion gene informationFusion gene name: TP53-ECSIT
Fusion gene ID: 93202
HgeneTgene
Gene symbol

TP53

ECSIT

Gene ID

7157

51295

Gene nametumor protein p53ECSIT signaling integrator
SynonymsBCC7|BMFS5|LFS1|P53|TRP53SITPEC
Cytomap

17p13.1

19p13.2

Type of geneprotein-codingprotein-coding
Descriptioncellular tumor antigen p53antigen NY-CO-13mutant tumor protein 53p53 tumor suppressorphosphoprotein p53transformation-related protein 53tumor protein 53tumor supressor p53evolutionarily conserved signaling intermediate in Toll pathway, mitochondrialECSIT homologECSIT signalling integratorlikely ortholog of mouse signaling intermediate in Toll pathway evolutionarily conserved
Modification date2020032920200313
UniProtAcc.

Q9BQ95

Ensembl transtripts involved in fusion geneENST00000269305, ENST00000359597, 
ENST00000420246, ENST00000445888, 
ENST00000455263, ENST00000413465, 
ENST00000574684, 		ENST00000252440, 
ENST00000270517, ENST00000417981, 
ENST00000588998, ENST00000591104, 
ENST00000591352, ENST00000592312, 
Fusion gene scores* DoF score30 X 19 X 10=57006 X 5 X 5=150
# samples 378
** MAII scorelog2(37/5700*10)=-3.94536474342315
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/150*10)=-0.906890595608519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TP53 [Title/Abstract] AND ECSIT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTP53(7576853)-ECSIT(11630008), # samples:3
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
HgeneTP53

GO:0000733

DNA strand renaturation

8183576

HgeneTP53

GO:0006355

regulation of transcription, DNA-templated

7587074

HgeneTP53

GO:0006974

cellular response to DNA damage stimulus

14744935|15710329|17938203

HgeneTP53

GO:0006978

DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator

16213212

HgeneTP53

GO:0006983

ER overload response

14744935

HgeneTP53

GO:0007050

cell cycle arrest

15149599

HgeneTP53

GO:0008104

protein localization

16507995

HgeneTP53

GO:0008285

negative regulation of cell proliferation

22783376

HgeneTP53

GO:0010628

positive regulation of gene expression

15314173|20332243

HgeneTP53

GO:0030330

DNA damage response, signal transduction by p53 class mediator

15149599

HgeneTP53

GO:0031497

chromatin assembly

16322561

HgeneTP53

GO:0034644

cellular response to UV

16213212|23629966

HgeneTP53

GO:0036003

positive regulation of transcription from RNA polymerase II promoter in response to stress

30089260

HgeneTP53

GO:0042149

cellular response to glucose starvation

14744935|21471221

HgeneTP53

GO:0042771

intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator

14654789|14744935|17403783

HgeneTP53

GO:0042981

regulation of apoptotic process

14744935

HgeneTP53

GO:0043065

positive regulation of apoptotic process

12667443|15565177|20959462

HgeneTP53

GO:0045892

negative regulation of transcription, DNA-templated

24051492

HgeneTP53

GO:0045893

positive regulation of transcription, DNA-templated

16322561|17403783|18549481|20378837

HgeneTP53

GO:0045899

positive regulation of RNA polymerase II transcriptional preinitiation complex assembly

24289924

HgeneTP53

GO:0045944

positive regulation of transcription by RNA polymerase II

11672523|17145718|17310983|17599062|18549481|20959462|24652652

HgeneTP53

GO:0051123

RNA polymerase II preinitiation complex assembly

24289924

HgeneTP53

GO:0051974

negative regulation of telomerase activity

10597287

HgeneTP53

GO:0065003

protein-containing complex assembly

12915590

HgeneTP53

GO:0071158

positive regulation of cell cycle arrest

15314173

HgeneTP53

GO:0071480

cellular response to gamma radiation

16213212

HgeneTP53

GO:0072331

signal transduction by p53 class mediator

15314173

HgeneTP53

GO:0072717

cellular response to actinomycin D

15314173

HgeneTP53

GO:0090200

positive regulation of release of cytochrome c from mitochondria

14963330

HgeneTP53

GO:0097252

oligodendrocyte apoptotic process

7720704

HgeneTP53

GO:1902895

positive regulation of pri-miRNA transcription by RNA polymerase II

20546595

HgeneTP53

GO:1903800

positive regulation of production of miRNAs involved in gene silencing by miRNA

26100857

HgeneTP53

GO:1990248

regulation of transcription from RNA polymerase II promoter in response to DNA damage

30089260

TgeneECSIT

GO:0051341

regulation of oxidoreductase activity

17344420

TgeneECSIT

GO:0061635

regulation of protein complex stability

17344420


check buttonFusion gene breakpoints across TP53 (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 ECSIT (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
ChimerDB4PRADTCGA-WW-A8ZI-01ATP53chr17

7576853

-ECSITchr19

11630008

-
ChimerDB4PRADTCGA-WW-A8ZITP53chr17

7576853

-ECSITchr19

11630008

-


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Fusion Gene ORF analysis for TP53-ECSIT

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-5UTRENST00000269305ENST00000252440TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000269305ENST00000270517TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000269305ENST00000417981TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000269305ENST00000588998TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000269305ENST00000591104TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000359597ENST00000252440TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000359597ENST00000270517TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000359597ENST00000417981TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000359597ENST00000588998TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000359597ENST00000591104TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000420246ENST00000252440TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000420246ENST00000270517TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000420246ENST00000417981TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000420246ENST00000588998TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000420246ENST00000591104TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000445888ENST00000252440TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000445888ENST00000270517TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000445888ENST00000417981TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000445888ENST00000588998TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000445888ENST00000591104TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000455263ENST00000252440TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000455263ENST00000270517TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000455263ENST00000417981TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000455263ENST00000588998TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-5UTRENST00000455263ENST00000591104TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-intronENST00000269305ENST00000591352TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-intronENST00000269305ENST00000592312TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-intronENST00000359597ENST00000591352TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-intronENST00000359597ENST00000592312TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-intronENST00000420246ENST00000591352TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-intronENST00000420246ENST00000592312TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-intronENST00000445888ENST00000591352TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-intronENST00000445888ENST00000592312TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-intronENST00000455263ENST00000591352TP53chr17

7576853

-ECSITchr19

11630008

-
5CDS-intronENST00000455263ENST00000592312TP53chr17

7576853

-ECSITchr19

11630008

-
intron-5UTRENST00000413465ENST00000252440TP53chr17

7576853

-ECSITchr19

11630008

-
intron-5UTRENST00000413465ENST00000270517TP53chr17

7576853

-ECSITchr19

11630008

-
intron-5UTRENST00000413465ENST00000417981TP53chr17

7576853

-ECSITchr19

11630008

-
intron-5UTRENST00000413465ENST00000588998TP53chr17

7576853

-ECSITchr19

11630008

-
intron-5UTRENST00000413465ENST00000591104TP53chr17

7576853

-ECSITchr19

11630008

-
intron-5UTRENST00000574684ENST00000252440TP53chr17

7576853

-ECSITchr19

11630008

-
intron-5UTRENST00000574684ENST00000270517TP53chr17

7576853

-ECSITchr19

11630008

-
intron-5UTRENST00000574684ENST00000417981TP53chr17

7576853

-ECSITchr19

11630008

-
intron-5UTRENST00000574684ENST00000588998TP53chr17

7576853

-ECSITchr19

11630008

-
intron-5UTRENST00000574684ENST00000591104TP53chr17

7576853

-ECSITchr19

11630008

-
intron-intronENST00000413465ENST00000591352TP53chr17

7576853

-ECSITchr19

11630008

-
intron-intronENST00000413465ENST00000592312TP53chr17

7576853

-ECSITchr19

11630008

-
intron-intronENST00000574684ENST00000591352TP53chr17

7576853

-ECSITchr19

11630008

-
intron-intronENST00000574684ENST00000592312TP53chr17

7576853

-ECSITchr19

11630008

-

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 TP53-ECSIT


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 TP53-ECSIT


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/:7576853/:11630008)
- 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
.ECSIT

Q9BQ95

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: Adapter protein of the Toll-like and IL-1 receptor signaling pathway that is involved in the activation of NF-kappa-B via MAP3K1. Promotes proteolytic activation of MAP3K1. Involved in the BMP signaling pathway. Required for normal embryonic development (By similarity). {ECO:0000250}.; FUNCTION: Required for efficient assembly of mitochondrial NADH:ubiquinone oxidoreductase.

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 TP53-ECSIT


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 TP53-ECSIT


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 TP53-ECSIT


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 TP53-ECSIT


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