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Fusion gene ID: 9654 |
FusionGeneSummary for DDX5_ETV4 |
Fusion gene summary |
Fusion gene information | Fusion gene name: DDX5_ETV4 | Fusion gene ID: 9654 | Hgene | Tgene | Gene symbol | DDX5 | ETV4 | Gene ID | 1655 | 2118 |
Gene name | DEAD-box helicase 5 | ETS variant 4 | |
Synonyms | G17P1|HLR1|HUMP68|p68 | E1A-F|E1AF|PEA3|PEAS3 | |
Cytomap | 17q23.3 | 17q21.31 | |
Type of gene | protein-coding | protein-coding | |
Description | probable 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 h | ETS 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 date | 20180522 | 20180523 | |
UniProtAcc | P17844 | P43268 | |
Ensembl transtripts involved in fusion gene | ENST00000225792, ENST00000450599, ENST00000578804, ENST00000580026, | ENST00000319349, ENST00000393664, ENST00000538265, ENST00000545954, ENST00000545089, ENST00000591713, ENST00000586826, | |
Fusion gene scores | * DoF score | 14 X 13 X 4=728 | 9 X 8 X 3=216 |
# samples | 14 | 18 | |
** MAII score | log2(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 annotation | Oncogene 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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | DDX5 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15298701 |
Hgene | DDX5 | GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | 21343338 |
Hgene | DDX5 | GO:0000956 | nuclear-transcribed mRNA catabolic process | 23788676 |
Tgene | ETV4 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 24983502 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | EU599085 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000225792 | ENST00000319349 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
In-frame | ENST00000225792 | ENST00000393664 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
In-frame | ENST00000225792 | ENST00000538265 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
In-frame | ENST00000225792 | ENST00000545954 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
In-frame | ENST00000225792 | ENST00000545089 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
In-frame | ENST00000225792 | ENST00000591713 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
5CDS-intron | ENST00000225792 | ENST00000586826 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
intron-3CDS | ENST00000450599 | ENST00000319349 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
intron-3CDS | ENST00000450599 | ENST00000393664 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
intron-3CDS | ENST00000450599 | ENST00000538265 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
intron-3CDS | ENST00000450599 | ENST00000545954 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
intron-3CDS | ENST00000450599 | ENST00000545089 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
intron-3CDS | ENST00000450599 | ENST00000591713 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
intron-intron | ENST00000450599 | ENST00000586826 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
In-frame | ENST00000578804 | ENST00000319349 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
In-frame | ENST00000578804 | ENST00000393664 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
In-frame | ENST00000578804 | ENST00000538265 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
In-frame | ENST00000578804 | ENST00000545954 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
In-frame | ENST00000578804 | ENST00000545089 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
In-frame | ENST00000578804 | ENST00000591713 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
5CDS-intron | ENST00000578804 | ENST00000586826 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
intron-3CDS | ENST00000580026 | ENST00000319349 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
intron-3CDS | ENST00000580026 | ENST00000393664 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
intron-3CDS | ENST00000580026 | ENST00000538265 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
intron-3CDS | ENST00000580026 | ENST00000545954 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
intron-3CDS | ENST00000580026 | ENST00000545089 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
intron-3CDS | ENST00000580026 | ENST00000591713 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
intron-intron | ENST00000580026 | ENST00000586826 | DDX5 | chr17 | 62500340 | - | ETV4 | chr17 | 41613848 | - |
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FusionProtFeatures for DDX5_ETV4 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
DDX5 | ETV4 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Tgene | >ETV4 | chr17:62500340 | chr17:41613848 | ENST00000319349 | - | 3 | 13 | 148_244 | 67 | 485 | Compositional bias | Note=Gln-rich |
Tgene | >ETV4 | chr17:62500340 | chr17:41613848 | ENST00000393664 | - | 2 | 12 | 148_244 | 67 | 485 | Compositional bias | Note=Gln-rich |
Tgene | >ETV4 | chr17:62500340 | chr17:41613848 | ENST00000538265 | - | 2 | 12 | 148_244 | 28 | 446 | Compositional bias | Note=Gln-rich |
Tgene | >ETV4 | chr17:62500340 | chr17:41613848 | ENST00000538265 | - | 2 | 12 | 49_75 | 28 | 446 | Compositional bias | Note=Asp/Glu-rich (acidic) |
Tgene | >ETV4 | chr17:62500340 | chr17:41613848 | ENST00000545954 | - | 2 | 12 | 148_244 | 28 | 446 | Compositional bias | Note=Gln-rich |
Tgene | >ETV4 | chr17:62500340 | chr17:41613848 | ENST00000545954 | - | 2 | 12 | 49_75 | 28 | 446 | Compositional bias | Note=Asp/Glu-rich (acidic) |
Tgene | >ETV4 | chr17:62500340 | chr17:41613848 | ENST00000591713 | - | 3 | 13 | 148_244 | 67 | 485 | Compositional bias | Note=Gln-rich |
Tgene | >ETV4 | chr17:62500340 | chr17:41613848 | ENST00000319349 | - | 3 | 13 | 341_421 | 67 | 485 | DNA binding | ETS |
Tgene | >ETV4 | chr17:62500340 | chr17:41613848 | ENST00000393664 | - | 2 | 12 | 341_421 | 67 | 485 | DNA binding | ETS |
Tgene | >ETV4 | chr17:62500340 | chr17:41613848 | ENST00000538265 | - | 2 | 12 | 341_421 | 28 | 446 | DNA binding | ETS |
Tgene | >ETV4 | chr17:62500340 | chr17:41613848 | ENST00000545954 | - | 2 | 12 | 341_421 | 28 | 446 | DNA binding | ETS |
Tgene | >ETV4 | chr17:62500340 | chr17:41613848 | ENST00000591713 | - | 3 | 13 | 341_421 | 67 | 485 | DNA binding | ETS |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | >DDX5 | chr17:62500340 | chr17:41613848 | ENST00000225792 | - | 3 | 13 | 125_300 | 102 | 615 | Domain | Helicase ATP-binding |
Hgene | >DDX5 | chr17:62500340 | chr17:41613848 | ENST00000225792 | - | 3 | 13 | 328_475 | 102 | 615 | Domain | Helicase C-terminal |
Hgene | >DDX5 | chr17:62500340 | chr17:41613848 | ENST00000225792 | - | 3 | 13 | 248_251 | 102 | 615 | Motif | Note=DEAD box |
Hgene | >DDX5 | chr17:62500340 | chr17:41613848 | ENST00000225792 | - | 3 | 13 | 94_122 | 102 | 615 | Motif | Note=Q motif |
Hgene | >DDX5 | chr17:62500340 | chr17:41613848 | ENST00000225792 | - | 3 | 13 | 114_116 | 102 | 615 | Nucleotide binding | Note=ATP |
Hgene | >DDX5 | chr17:62500340 | chr17:41613848 | ENST00000225792 | - | 3 | 13 | 138_145 | 102 | 615 | Nucleotide binding | Note=ATP |
Hgene | >DDX5 | chr17:62500340 | chr17:41613848 | ENST00000225792 | - | 3 | 13 | 477_614 | 102 | 615 | Region | Note=Transactivation domain |
Tgene | ETV4 | chr17:62500340 | chr17:41613848 | ENST00000319349 | - | 3 | 13 | 49_75 | 67 | 485 | Compositional bias | Note=Asp/Glu-rich (acidic) |
Tgene | ETV4 | chr17:62500340 | chr17:41613848 | ENST00000393664 | - | 2 | 12 | 49_75 | 67 | 485 | Compositional bias | Note=Asp/Glu-rich (acidic) |
Tgene | ETV4 | chr17:62500340 | chr17:41613848 | ENST00000591713 | - | 3 | 13 | 49_75 | 67 | 485 | Compositional bias | Note=Asp/Glu-rich (acidic) |
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FusionGeneSequence for DDX5_ETV4 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
DDX5 | STK24, 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, MTF1 | ETV4 | HOXD4, RFWD2, SAE1, UBA2, SMAD2, APP, HTT, ATXN1, STK11, TP63, JUN, CARM1, TRIM25 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for DDX5_ETV4 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | DDX5 | P17844 | DB11638 | Artenimol | Probable ATP-dependent RNA helicase DDX5 | small molecule | approved|investigational |
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RelatedDiseases for DDX5_ETV4 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DDX5 | C0014175 | Endometriosis | 1 | CTD_human |
Tgene | ETV4 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Tgene | ETV4 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | ETV4 | C1458155 | Mammary Neoplasms | 1 | CTD_human |