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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: 9662

FusionGeneSummary for DDX5_TRBV20-1

check button Fusion gene summary
Fusion gene informationFusion gene name: DDX5_TRBV20-1
Fusion gene ID: 9662
HgeneTgene
Gene symbol

DDX5

TRBV20-1

Gene ID

1655

28567

Gene nameDEAD-box helicase 5T cell receptor beta variable 20-1
SynonymsG17P1|HLR1|HUMP68|p68TCRBV20S1|TCRBV2S1|TRBV201
Cytomap

17q23.3

7q34

Type of geneprotein-codingother
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 hV_segment translation product
Modification date2018052220180529
UniProtAcc

P17844

Ensembl transtripts involved in fusion geneENST00000225792, ENST00000450599, 
ENST00000578804, ENST00000580026, 
ENST00000390394, 
Fusion gene scores* DoF score14 X 13 X 4=7288 X 10 X 1=80
# samples 1410
** MAII scorelog2(14/728*10)=-2.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/80*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DDX5 [Title/Abstract] AND TRBV20-1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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


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
ChiTaRS3.1DB152516DDX5chr17

62500340

-TRBV20-1chr16

2105413

+
* 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
5CDS-intronENST00000225792ENST00000390394DDX5chr17

62500340

-TRBV20-1chr16

2105413

+
intron-intronENST00000450599ENST00000390394DDX5chr17

62500340

-TRBV20-1chr16

2105413

+
5CDS-intronENST00000578804ENST00000390394DDX5chr17

62500340

-TRBV20-1chr16

2105413

+
intron-intronENST00000580026ENST00000390394DDX5chr17

62500340

-TRBV20-1chr16

2105413

+

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FusionProtFeatures for DDX5_TRBV20-1


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

P17844

TRBV20-1

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}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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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FusionGeneSequence for DDX5_TRBV20-1


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_TRBV20-1


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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RelatedDrugs for DDX5_TRBV20-1


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_TRBV20-1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDDX5C0014175Endometriosis1CTD_human