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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: 9575

FusionGeneSummary for DDX1_RPL28

check button Fusion gene summary
Fusion gene informationFusion gene name: DDX1_RPL28
Fusion gene ID: 9575
HgeneTgene
Gene symbol

DDX1

RPL28

Gene ID

1653

6158

Gene nameDEAD-box helicase 1ribosomal protein L28
SynonymsDBP-RB|UKVH5dL28
Cytomap

2p24.3

19q13.42

Type of geneprotein-codingprotein-coding
DescriptionATP-dependent RNA helicase DDX1DEAD (Asp-Glu-Ala-Asp) box helicase 1DEAD (Asp-Glu-Ala-Asp) box polypeptide 1DEAD box polypeptide 1DEAD box protein 1DEAD box protein retinoblastomaDEAD box-1DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1DEAD/H-box h60S ribosomal protein L28large ribosomal subunit protein eL28
Modification date2018052220180525
UniProtAcc

Q92499

P46779

Ensembl transtripts involved in fusion geneENST00000381341, ENST00000233084, 
ENST00000344063, ENST00000431533, 
ENST00000428193, ENST00000558815, 
ENST00000560583, ENST00000560055, 
ENST00000559463, ENST00000558131, 
ENST00000558752, ENST00000458349, 
Fusion gene scores* DoF score2 X 2 X 2=88 X 8 X 4=256
# samples 211
** MAII scorelog2(2/8*10)=1.32192809488736log2(11/256*10)=-1.21864028647534
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DDX1 [Title/Abstract] AND RPL28 [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
HgeneDDX1

GO:0006302

double-strand break repair

18710941

HgeneDDX1

GO:0032508

DNA duplex unwinding

18710941

HgeneDDX1

GO:0090305

nucleic acid phosphodiester bond hydrolysis

18710941


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
ChiTaRS3.1BG473709DDX1chr2

15760492

-RPL28chr19

55897300

+
* 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-5UTRENST00000381341ENST00000344063DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-5UTRENST00000381341ENST00000431533DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-5UTRENST00000381341ENST00000428193DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-5UTRENST00000381341ENST00000558815DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-5UTRENST00000381341ENST00000560583DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-5UTRENST00000381341ENST00000560055DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-intronENST00000381341ENST00000559463DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-intronENST00000381341ENST00000558131DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-intronENST00000381341ENST00000558752DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-intronENST00000381341ENST00000458349DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-5UTRENST00000233084ENST00000344063DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-5UTRENST00000233084ENST00000431533DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-5UTRENST00000233084ENST00000428193DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-5UTRENST00000233084ENST00000558815DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-5UTRENST00000233084ENST00000560583DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-5UTRENST00000233084ENST00000560055DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-intronENST00000233084ENST00000559463DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-intronENST00000233084ENST00000558131DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-intronENST00000233084ENST00000558752DDX1chr2

15760492

-RPL28chr19

55897300

+
5CDS-intronENST00000233084ENST00000458349DDX1chr2

15760492

-RPL28chr19

55897300

+

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FusionProtFeatures for DDX1_RPL28


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DDX1

Q92499

RPL28

P46779

Acts as an ATP-dependent RNA helicase, able to unwindboth RNA-RNA and RNA-DNA duplexes. Possesses 5' single-strandedRNA overhang nuclease activity. Possesses ATPase activity onvarious RNA, but not DNA polynucleotides. May play a role in RNAclearance at DNA double-strand breaks (DSBs), thereby facilitatingthe template-guided repair of transcriptionally active regions ofthe genome. Together with RELA, acts as a coactivator to enhanceNF-kappa-B-mediated transcriptional activation. Acts as a positivetranscriptional regulator of cyclin CCND2 expression. Binds to thecyclin CCND2 promoter region. Associates with chromatin at the NF-kappa-B promoter region via association with RELA. Binds topoly(A) RNA. May be involved in 3'-end cleavage andpolyadenylation of pre-mRNAs. Component of the tRNA-splicingligase complex required to facilitate the enzymatic turnover ofcatalytic subunit RTCB: together with archease (ZBTB8OS), acts byfacilitating the guanylylation of RTCB, a key intermediate step intRNA ligation (PubMed:24870230). {ECO:0000269|PubMed:12183465,ECO:0000269|PubMed:15567440, ECO:0000269|PubMed:18335541,ECO:0000269|PubMed:18710941, ECO:0000269|PubMed:20573827,ECO:0000269|PubMed:24870230}. (Microbial infection) Required for HIV-1 Rev function aswell as for HIV-1 and coronavirus IBV replication. Binds to theRRE sequence of HIV-1 mRNAs. {ECO:0000269|PubMed:15567440}. (Microbial infection) Required for Coronavirus IBVreplication. {ECO:0000269|PubMed:20573827}.

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 DDX1_RPL28


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 DDX1_RPL28


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 DDX1_RPL28


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DDX1_RPL28


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDDX1C0014173Endometrial Hyperplasia1CTD_human
HgeneDDX1C0236969Substance-Related Disorders1CTD_human
TgeneRPL28C0043094Weight Gain1CTD_human