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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: 31654

FusionGeneSummary for RNU6ATAC_DDX1

check button Fusion gene summary
Fusion gene informationFusion gene name: RNU6ATAC_DDX1
Fusion gene ID: 31654
HgeneTgene
Gene symbol

RNU6ATAC

DDX1

Gene ID

100151684

1653

Gene nameRNA, U6atac small nuclear (U12-dependent splicing)DEAD-box helicase 1
SynonymsRNU6ATAC1|U6ATACDBP-RB|UKVH5d
Cytomap

9q34.2

2p24.3

Type of genesnRNAprotein-coding
DescriptionRNA, U6atac small nuclear 1ATP-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 h
Modification date2018051920180522
UniProtAcc

Q92499

Ensembl transtripts involved in fusion geneENST00000408749, ENST00000381341, 
ENST00000233084, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 4 X 3=48
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RNU6ATAC [Title/Abstract] AND DDX1 [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
TgeneDDX1

GO:0006302

double-strand break repair

18710941

TgeneDDX1

GO:0032508

DNA duplex unwinding

18710941

TgeneDDX1

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
ChiTaRS3.1DA765942RNU6ATACchr9

137029560

-DDX1chr2

15731992

+
* 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-5UTRENST00000408749ENST00000381341RNU6ATACchr9

137029560

-DDX1chr2

15731992

+
5CDS-5UTRENST00000408749ENST00000233084RNU6ATACchr9

137029560

-DDX1chr2

15731992

+

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FusionProtFeatures for RNU6ATAC_DDX1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RNU6ATAC

DDX1

Q92499

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}. 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 RNU6ATAC_DDX1


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 RNU6ATAC_DDX1


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 RNU6ATAC_DDX1


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 RNU6ATAC_DDX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDDX1C0014173Endometrial Hyperplasia1CTD_human
TgeneDDX1C0236969Substance-Related Disorders1CTD_human