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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 9654

FusionGeneSummary for DDX5_ETV4

check button Fusion gene summary
Fusion gene informationFusion gene name: DDX5_ETV4
Fusion gene ID: 9654
HgeneTgene
Gene symbol

DDX5

ETV4

Gene ID

1655

2118

Gene nameDEAD-box helicase 5ETS variant 4
SynonymsG17P1|HLR1|HUMP68|p68E1A-F|E1AF|PEA3|PEAS3
Cytomap

17q23.3

17q21.31

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 hETS translocation variant 4EWS protein/E1A enhancer binding protein chimeraadenovirus E1A enhancer-binding proteinets variant gene 4 (E1A enhancer-binding protein, E1AF)polyomavirus enhancer activator 3 homolog
Modification date2018052220180523
UniProtAcc

P17844

P43268

Ensembl transtripts involved in fusion geneENST00000225792, ENST00000450599, 
ENST00000578804, ENST00000580026, 
ENST00000319349, ENST00000393664, 
ENST00000538265, ENST00000545954, 
ENST00000545089, ENST00000591713, 
ENST00000586826, 
Fusion gene scores* DoF score14 X 13 X 4=7289 X 8 X 3=216
# samples 1418
** MAII scorelog2(14/728*10)=-2.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/216*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DDX5 [Title/Abstract] AND ETV4 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Transcription factor involved fusion gene, inframe and retained DNA-binding domain.
* 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

TgeneETV4

GO:0045944

positive regulation of transcription by RNA polymerase II

24983502


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1EU599085DDX5chr17

62500340

-ETV4chr17

41613848

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
In-frameENST00000225792ENST00000319349DDX5chr17

62500340

-ETV4chr17

41613848

-
In-frameENST00000225792ENST00000393664DDX5chr17

62500340

-ETV4chr17

41613848

-
In-frameENST00000225792ENST00000538265DDX5chr17

62500340

-ETV4chr17

41613848

-
In-frameENST00000225792ENST00000545954DDX5chr17

62500340

-ETV4chr17

41613848

-
In-frameENST00000225792ENST00000545089DDX5chr17

62500340

-ETV4chr17

41613848

-
In-frameENST00000225792ENST00000591713DDX5chr17

62500340

-ETV4chr17

41613848

-
5CDS-intronENST00000225792ENST00000586826DDX5chr17

62500340

-ETV4chr17

41613848

-
intron-3CDSENST00000450599ENST00000319349DDX5chr17

62500340

-ETV4chr17

41613848

-
intron-3CDSENST00000450599ENST00000393664DDX5chr17

62500340

-ETV4chr17

41613848

-
intron-3CDSENST00000450599ENST00000538265DDX5chr17

62500340

-ETV4chr17

41613848

-
intron-3CDSENST00000450599ENST00000545954DDX5chr17

62500340

-ETV4chr17

41613848

-
intron-3CDSENST00000450599ENST00000545089DDX5chr17

62500340

-ETV4chr17

41613848

-
intron-3CDSENST00000450599ENST00000591713DDX5chr17

62500340

-ETV4chr17

41613848

-
intron-intronENST00000450599ENST00000586826DDX5chr17

62500340

-ETV4chr17

41613848

-
In-frameENST00000578804ENST00000319349DDX5chr17

62500340

-ETV4chr17

41613848

-
In-frameENST00000578804ENST00000393664DDX5chr17

62500340

-ETV4chr17

41613848

-
In-frameENST00000578804ENST00000538265DDX5chr17

62500340

-ETV4chr17

41613848

-
In-frameENST00000578804ENST00000545954DDX5chr17

62500340

-ETV4chr17

41613848

-
In-frameENST00000578804ENST00000545089DDX5chr17

62500340

-ETV4chr17

41613848

-
In-frameENST00000578804ENST00000591713DDX5chr17

62500340

-ETV4chr17

41613848

-
5CDS-intronENST00000578804ENST00000586826DDX5chr17

62500340

-ETV4chr17

41613848

-
intron-3CDSENST00000580026ENST00000319349DDX5chr17

62500340

-ETV4chr17

41613848

-
intron-3CDSENST00000580026ENST00000393664DDX5chr17

62500340

-ETV4chr17

41613848

-
intron-3CDSENST00000580026ENST00000538265DDX5chr17

62500340

-ETV4chr17

41613848

-
intron-3CDSENST00000580026ENST00000545954DDX5chr17

62500340

-ETV4chr17

41613848

-
intron-3CDSENST00000580026ENST00000545089DDX5chr17

62500340

-ETV4chr17

41613848

-
intron-3CDSENST00000580026ENST00000591713DDX5chr17

62500340

-ETV4chr17

41613848

-
intron-intronENST00000580026ENST00000586826DDX5chr17

62500340

-ETV4chr17

41613848

-

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FusionProtFeatures for DDX5_ETV4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DDX5

P17844

ETV4

P43268

Involved in the alternative regulation of pre-mRNAsplicing; its RNA helicase activity is necessary for increasingtau exon 10 inclusion and occurs in a RBM4-dependent manner. Bindsto the tau pre-mRNA in the stem-loop region downstream of exon 10.The rate of ATP hydrolysis is highly stimulated by single-strandedRNA. Involved in transcriptional regulation; the function isindependent of the RNA helicase activity. Transcriptionalcoactivator for androgen receptor AR but probably not ESR1.Synergizes with DDX17 and SRA1 RNA to activate MYOD1transcriptional activity and involved in skeletal muscledifferentiation. Transcriptional coactivator for p53/TP53 andinvolved in p53/TP53 transcriptional response to DNA damage andp53/TP53-dependent apoptosis. Transcriptional coactivator forRUNX2 and involved in regulation of osteoblast differentiation.Acts as transcriptional repressor in a promoter-specific manner;the function probably involves association with histonedeacetylases, such as HDAC1. As component of a large PER complexis involved in the inhibition of 3' transcriptional termination ofcircadian target genes such as PER1 and NR1D1 and the control ofthe 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}. Transcriptional activator that binds to the enhancer ofthe adenovirus E1A gene; the core-binding sequence is5'[AC]GGA[AT]GT-3'. {ECO:0000269|PubMed:19307308}.

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
TgeneETV4chr17:62500340chr17:41613848ENST00000319349-313148_24467485Compositional biasNote=Gln-rich
TgeneETV4chr17:62500340chr17:41613848ENST00000393664-212148_24467485Compositional biasNote=Gln-rich
TgeneETV4chr17:62500340chr17:41613848ENST00000538265-212148_24428446Compositional biasNote=Gln-rich
TgeneETV4chr17:62500340chr17:41613848ENST00000538265-21249_7528446Compositional biasNote=Asp/Glu-rich (acidic)
TgeneETV4chr17:62500340chr17:41613848ENST00000545954-212148_24428446Compositional biasNote=Gln-rich
TgeneETV4chr17:62500340chr17:41613848ENST00000545954-21249_7528446Compositional biasNote=Asp/Glu-rich (acidic)
TgeneETV4chr17:62500340chr17:41613848ENST00000591713-313148_24467485Compositional biasNote=Gln-rich
TgeneETV4chr17:62500340chr17:41613848ENST00000319349-313341_42167485DNA bindingETS
TgeneETV4chr17:62500340chr17:41613848ENST00000393664-212341_42167485DNA bindingETS
TgeneETV4chr17:62500340chr17:41613848ENST00000538265-212341_42128446DNA bindingETS
TgeneETV4chr17:62500340chr17:41613848ENST00000545954-212341_42128446DNA bindingETS
TgeneETV4chr17:62500340chr17:41613848ENST00000591713-313341_42167485DNA bindingETS

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDDX5chr17:62500340chr17:41613848ENST00000225792-313125_300102615DomainHelicase ATP-binding
HgeneDDX5chr17:62500340chr17:41613848ENST00000225792-313328_475102615DomainHelicase C-terminal
HgeneDDX5chr17:62500340chr17:41613848ENST00000225792-313248_251102615MotifNote=DEAD box
HgeneDDX5chr17:62500340chr17:41613848ENST00000225792-31394_122102615MotifNote=Q motif
HgeneDDX5chr17:62500340chr17:41613848ENST00000225792-313114_116102615Nucleotide bindingNote=ATP
HgeneDDX5chr17:62500340chr17:41613848ENST00000225792-313138_145102615Nucleotide bindingNote=ATP
HgeneDDX5chr17:62500340chr17:41613848ENST00000225792-313477_614102615RegionNote=Transactivation domain
TgeneETV4chr17:62500340chr17:41613848ENST00000319349-31349_7567485Compositional biasNote=Asp/Glu-rich (acidic)
TgeneETV4chr17:62500340chr17:41613848ENST00000393664-21249_7567485Compositional biasNote=Asp/Glu-rich (acidic)
TgeneETV4chr17:62500340chr17:41613848ENST00000591713-31349_7567485Compositional biasNote=Asp/Glu-rich (acidic)


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FusionGeneSequence for DDX5_ETV4


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for DDX5_ETV4


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
DDX5STK24, HDAC1, CREBBP, EP300, AKAP8, FBL, OTUB1, MEPCE, CDK9, HNRNPA1, HNRNPH1, KHDRBS2, IPO11, TCEA1, AIRE, MYOD1, SMARCA4, TBP, POLR2A, MGMT, SRRM1, SRRM2, PIAS1, MBD3, CHD3, ESR1, TADA2A, SMN1, CD4, DGCR8, ZWINT, CALM1, PIK3CA, PSMA3, TNNT1, VHL, SMARCAD1, YY1, NDRG1, HDGF, CENPA, MBNL1, SF3A2, ARRB2, ERG, NFX1, CUL3, CUL4A, CUL4B, CUL5, CUL2, CUL1, COPS5, COPS6, DCUN1D1, CAND1, NEDD8, DDX5, DDX17, HDAC2, HDAC3, INPPL1, SHC1, CRK, AKT1, DHX15, SRSF1, SF3B3, U2AF2, DHX38, SNRPA1, EIF4A3, PRKDC, SF3A1, HNRNPM, HNRNPF, SNRPD1, RBMX, SYNCRIP, U2AF1, SART1, PRPF40A, IGF2BP3, SNW1, PRPF19, SNRPD2, VTN, MCM7, SYN1, RPS20, XRCC4, RPS16, HNRNPA0, EEF2, PRSS1, THRAP3, GOLIM4, EPRS, RPL19, SRP14, SMURF1, FN1, VCAM1, RBM10, WBP11, HNRNPK, DHX9, RBM4, HNRNPH2, HNRNPH3, KHDRBS1, RBFOX2, IL7R, MAP1LC3A, ITGA4, CTNNB1, CD81, IGSF8, FBXW4, FBXO46, SP1, MAPK10, FBXO6, TARDBP, PARK2, PIN1, DBNL, ERO1L, FKBP10, LRSAM1, PABPC4, PRPSAP1, WDR4, RPA1, RPA2, RPA3, STAU1, MDM2, SPRTN, AURKA, AURKB, CEP250, TP53, TUBGCP3, FUS, MAPKAPK2, DROSHA, NXF1, CUL7, OBSL1, CCDC8, UBE2I, EZH2, SUZ12, EED, RNF2, SMAD3, ABL1, ARAF, CDK2, DAPK1, ILK, MAST3, SGK2, SRPK1, TNK1, TYK2, LUZP4, RPS6KB2, UNK, NTRK1, ATXN2, ATXN2L, C14orf166, CPSF6, DDX18, DNAJC2, ELAC2, GTPBP4, HNRNPR, IMPDH1, SBDS, SKIV2L2, TRMT6, DHX36, EDC4, EIF2A, GMPS, LUC7L2, NACA, UPF1, SFN, SCARNA22, FRS3, XPO1, HNRNPU, RPL10, MATR3, SKI, MCM2, MCM5, CDC5L, CDC37, CRBN, CBX7, RYBP, WWP2, DERL1, EGFR, YPEL5, RMND5A, MAEA, RANBP9, ARMC8, NR2E1, CYLD, CD2BP2, INO80B, TRIM25, HOTAIR, HEY1, BRCA1, LMNA, MTF1ETV4HOXD4, RFWD2, SAE1, UBA2, SMAD2, APP, HTT, ATXN1, STK11, TP63, JUN, CARM1, TRIM25


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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RelatedDrugs for DDX5_ETV4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneDDX5P17844DB11638ArtenimolProbable ATP-dependent RNA helicase DDX5small moleculeapproved|investigational

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RelatedDiseases for DDX5_ETV4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDDX5C0014175Endometriosis1CTD_human
TgeneETV4C0027627Neoplasm Metastasis1CTD_human
TgeneETV4C0033578Prostatic Neoplasms1CTD_human
TgeneETV4C1458155Mammary Neoplasms1CTD_human