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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:DDX5-EEF1A1 (FusionGDB2 ID:HG1655TG1915)

Fusion Gene Summary for DDX5-EEF1A1

check button Fusion gene summary
Fusion gene informationFusion gene name: DDX5-EEF1A1
Fusion gene ID: hg1655tg1915
HgeneTgene
Gene symbol

DDX5

EEF1A1

Gene ID

1655

1915

Gene nameDEAD-box helicase 5eukaryotic translation elongation factor 1 alpha 1
SynonymsG17P1|HLR1|HUMP68|p68CCS-3|CCS3|EE1A1|EEF-1|EEF1A|EF-Tu|EF1A|GRAF-1EF|LENG7|PTI1|eEF1A-1
Cytomap('DDX5')('EEF1A1')

17q23.3

6q13

Type of geneprotein-codingprotein-coding
Descriptionprobable ATP-dependent RNA helicase DDX5ATP-dependent RNA helicase DDX5DEAD (Asp-Glu-Ala-Asp) box helicase 5DEAD (Asp-Glu-Ala-Asp) box polypeptide 5DEAD box protein 5DEAD box-5DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)RNA helongation factor 1-alpha 1CTCL tumor antigenEF-1-alpha-1EF1a-like proteincervical cancer suppressor 3elongation factor 1 alpha subunitelongation factor Tuepididymis secretory sperm binding proteineukaryotic elongation factor 1 A-1eukaryotic tran
Modification date2020031320200327
UniProtAcc

P17844

.
Ensembl transtripts involved in fusion geneENST00000225792, ENST00000450599, 
ENST00000578804, ENST00000580026, 
Fusion gene scores* DoF score33 X 25 X 10=825038 X 33 X 8=10032
# samples 2741
** MAII scorelog2(27/8250*10)=-4.93336280696971
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(41/10032*10)=-4.61284153329659
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DDX5 [Title/Abstract] AND EEF1A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDDX5(62502194)-EEF1A1(74229779), # 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
HgeneDDX5

GO:0000122

negative regulation of transcription by RNA polymerase II

15298701

HgeneDDX5

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

21343338

HgeneDDX5

GO:0000956

nuclear-transcribed mRNA catabolic process

23788676

TgeneEEF1A1

GO:0071364

cellular response to epidermal growth factor stimulus

9852145

TgeneEEF1A1

GO:1900022

regulation of D-erythro-sphingosine kinase activity

18263879



check button Fusion gene information
* 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
ChimerDB4Non-CancerERR315404DDX5chr17

62502194

-EEF1A1chr6

74229779

-
ChimerDB4Non-CancerERR315406DDX5chr17

62502194

-EEF1A1chr6

74229779

-


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Fusion Gene ORF analysis for DDX5-EEF1A1

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-5UTRENST00000225792ENST00000309268DDX5chr17

62502194

-EEF1A1chr6

74229779

-
5CDS-5UTRENST00000225792ENST00000316292DDX5chr17

62502194

-EEF1A1chr6

74229779

-
5CDS-5UTRENST00000225792ENST00000331523DDX5chr17

62502194

-EEF1A1chr6

74229779

-
5CDS-5UTRENST00000450599ENST00000309268DDX5chr17

62502194

-EEF1A1chr6

74229779

-
5CDS-5UTRENST00000450599ENST00000316292DDX5chr17

62502194

-EEF1A1chr6

74229779

-
5CDS-5UTRENST00000450599ENST00000331523DDX5chr17

62502194

-EEF1A1chr6

74229779

-
5CDS-intronENST00000225792ENST00000491404DDX5chr17

62502194

-EEF1A1chr6

74229779

-
5CDS-intronENST00000450599ENST00000491404DDX5chr17

62502194

-EEF1A1chr6

74229779

-
intron-5UTRENST00000578804ENST00000309268DDX5chr17

62502194

-EEF1A1chr6

74229779

-
intron-5UTRENST00000578804ENST00000316292DDX5chr17

62502194

-EEF1A1chr6

74229779

-
intron-5UTRENST00000578804ENST00000331523DDX5chr17

62502194

-EEF1A1chr6

74229779

-
intron-5UTRENST00000580026ENST00000309268DDX5chr17

62502194

-EEF1A1chr6

74229779

-
intron-5UTRENST00000580026ENST00000316292DDX5chr17

62502194

-EEF1A1chr6

74229779

-
intron-5UTRENST00000580026ENST00000331523DDX5chr17

62502194

-EEF1A1chr6

74229779

-
intron-intronENST00000578804ENST00000491404DDX5chr17

62502194

-EEF1A1chr6

74229779

-
intron-intronENST00000580026ENST00000491404DDX5chr17

62502194

-EEF1A1chr6

74229779

-

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 DDX5-EEF1A1


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)


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Fusion Protein Features for DDX5-EEF1A1


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/:62502194/:74229779)
- 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
DDX5

P17844

.
FUNCTION: Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre-mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for androgen receptor AR but probably not ESR1. Synergizes with DDX17 and SRA1 RNA to activate MYOD1 transcriptional activity and involved in skeletal muscle differentiation. Transcriptional coactivator for p53/TP53 and involved in p53/TP53 transcriptional response to DNA damage and p53/TP53-dependent apoptosis. Transcriptional coactivator for RUNX2 and involved in regulation of osteoblast differentiation. Acts as transcriptional repressor in a promoter-specific manner; the function probably involves association with histone deacetylases, such as HDAC1. As component of a large PER complex is involved in the inhibition of 3' transcriptional termination of circadian target genes such as PER1 and NR1D1 and the control of the circadian rhythms. {ECO:0000269|PubMed:12527917, ECO:0000269|PubMed:15298701, ECO:0000269|PubMed:15660129, ECO:0000269|PubMed:17011493, ECO:0000269|PubMed:17960593, ECO:0000269|PubMed:18829551, ECO:0000269|PubMed:19718048, ECO:0000269|PubMed:21343338}.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 DDX5-EEF1A1


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 DDX5-EEF1A1


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 DDX5-EEF1A1


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 DDX5-EEF1A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDDX5C0014175Endometriosis1CTD_human
HgeneDDX5C0269102Endometrioma1CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human