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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:DDX11-TSPAN11 (FusionGDB2 ID:21893)

Fusion Gene Summary for DDX11-TSPAN11

check button Fusion gene summary
Fusion gene informationFusion gene name: DDX11-TSPAN11
Fusion gene ID: 21893
HgeneTgene
Gene symbol

DDX11

TSPAN11

Gene ID

1663

441631

Gene nameDEAD/H-box helicase 11tetraspanin 11
SynonymsCHL1|CHLR1|KRG2|WABSVSSW1971
Cytomap

12p11.21

12p11.21

Type of geneprotein-codingprotein-coding
DescriptionATP-dependent DNA helicase DDX11CHL1-like helicase homologCHL1-related helicase gene-1CHL1-related protein 1DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)DEAD/Htetraspanin-11tspan-11
Modification date2020031320200313
UniProtAcc

Q96FC9

.
Ensembl transtripts involved in fusion geneENST00000228264, ENST00000251758, 
ENST00000350437, ENST00000407793, 
ENST00000542838, ENST00000545668, 
ENST00000539673, 
ENST00000261177, 
ENST00000535215, ENST00000544427, 
ENST00000545802, ENST00000546076, 
Fusion gene scores* DoF score3 X 3 X 2=186 X 4 X 5=120
# samples 36
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DDX11 [Title/Abstract] AND TSPAN11 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDDX11(31238060)-TSPAN11(31144790), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneDDX11

GO:0007062

sister chromatid cohesion

17105772

HgeneDDX11

GO:0032079

positive regulation of endodeoxyribonuclease activity

18499658

HgeneDDX11

GO:0032508

DNA duplex unwinding

10648783|18499658|26503245

HgeneDDX11

GO:0035563

positive regulation of chromatin binding

26089203

HgeneDDX11

GO:0044806

G-quadruplex DNA unwinding

26503245


check buttonFusion gene breakpoints across DDX11 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across TSPAN11 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-BR-A4J1DDX11chr12

31238060

+TSPAN11chr12

31144790

+


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Fusion Gene ORF analysis for DDX11-TSPAN11

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-intronENST00000228264ENST00000261177DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000228264ENST00000535215DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000228264ENST00000544427DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000228264ENST00000545802DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000228264ENST00000546076DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000251758ENST00000261177DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000251758ENST00000535215DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000251758ENST00000544427DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000251758ENST00000545802DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000251758ENST00000546076DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000350437ENST00000261177DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000350437ENST00000535215DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000350437ENST00000544427DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000350437ENST00000545802DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000350437ENST00000546076DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000407793ENST00000261177DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000407793ENST00000535215DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000407793ENST00000544427DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000407793ENST00000545802DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000407793ENST00000546076DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000542838ENST00000261177DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000542838ENST00000535215DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000542838ENST00000544427DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000542838ENST00000545802DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000542838ENST00000546076DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000545668ENST00000261177DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000545668ENST00000535215DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000545668ENST00000544427DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000545668ENST00000545802DDX11chr12

31238060

+TSPAN11chr12

31144790

+
5CDS-intronENST00000545668ENST00000546076DDX11chr12

31238060

+TSPAN11chr12

31144790

+
intron-intronENST00000539673ENST00000261177DDX11chr12

31238060

+TSPAN11chr12

31144790

+
intron-intronENST00000539673ENST00000535215DDX11chr12

31238060

+TSPAN11chr12

31144790

+
intron-intronENST00000539673ENST00000544427DDX11chr12

31238060

+TSPAN11chr12

31144790

+
intron-intronENST00000539673ENST00000545802DDX11chr12

31238060

+TSPAN11chr12

31144790

+
intron-intronENST00000539673ENST00000546076DDX11chr12

31238060

+TSPAN11chr12

31144790

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for DDX11-TSPAN11


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
DDX11chr1231238060+TSPAN11chr1231144790+0.000874250.9991258
DDX11chr1231238060+TSPAN11chr1231144790+0.000874250.9991258

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for DDX11-TSPAN11


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:31238060/:31144790)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DDX11

Q96FC9

.
FUNCTION: DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis (PubMed:10648783, PubMed:21854770, PubMed:23797032, PubMed:26089203, PubMed:26503245). Its double-stranded DNA helicase activity requires either a minimal 5'-single-stranded tail length of approximately 15 nt (flap substrates) or 10 nt length single-stranded gapped DNA substrates of a partial duplex DNA structure for helicase loading and translocation along DNA in a 5' to 3' direction (PubMed:18499658, PubMed:22102414). The helicase activity is capable of displacing duplex regions up to 100 bp, which can be extended up to 500 bp by the replication protein A (RPA) or the cohesion CTF18-replication factor C (Ctf18-RFC) complex activities (PubMed:18499658). Shows also ATPase- and helicase activities on substrates that mimic key DNA intermediates of replication, repair and homologous recombination reactions, including forked duplex, anti-parallel G-quadruplex and three-stranded D-loop DNA molecules (PubMed:22102414, PubMed:26503245). Plays a role in DNA double-strand break (DSB) repair at the DNA replication fork during DNA replication recovery from DNA damage (PubMed:23797032). Recruited with TIMELESS factor upon DNA-replication stress response at DNA replication fork to preserve replication fork progression, and hence ensure DNA replication fidelity (PubMed:26503245). Cooperates also with TIMELESS factor during DNA replication to regulate proper sister chromatid cohesion and mitotic chromosome segregation (PubMed:17105772, PubMed:18499658, PubMed:20124417, PubMed:23116066, PubMed:23797032). Stimulates 5'-single-stranded DNA flap endonuclease activity of FEN1 in an ATP- and helicase-independent manner; and hence it may contribute in Okazaki fragment processing at DNA replication fork during lagging strand DNA synthesis (PubMed:18499658). Its ability to function at DNA replication fork is modulated by its binding to long non-coding RNA (lncRNA) cohesion regulator non-coding RNA DDX11-AS1/CONCR, which is able to increase both DDX11 ATPase activity and binding to DNA replicating regions (PubMed:27477908). Plays also a role in heterochromatin organization (PubMed:21854770). Involved in rRNA transcription activation through binding to active hypomethylated rDNA gene loci by recruiting UBTF and the RNA polymerase Pol I transcriptional machinery (PubMed:26089203). Plays a role in embryonic development and prevention of aneuploidy (By similarity). Involved in melanoma cell proliferation and survival (PubMed:23116066). Associates with chromatin at DNA replication fork regions (PubMed:27477908). Binds to single- and double-stranded DNAs (PubMed:9013641, PubMed:18499658, PubMed:22102414). {ECO:0000250|UniProtKB:Q6AXC6, ECO:0000269|PubMed:10648783, ECO:0000269|PubMed:17105772, ECO:0000269|PubMed:18499658, ECO:0000269|PubMed:20124417, ECO:0000269|PubMed:21854770, ECO:0000269|PubMed:22102414, ECO:0000269|PubMed:23116066, ECO:0000269|PubMed:23797032, ECO:0000269|PubMed:26089203, ECO:0000269|PubMed:26503245, ECO:0000269|PubMed:27477908}.; FUNCTION: (Microbial infection) Required for bovine papillomavirus type 1 regulatory protein E2 loading onto mitotic chromosomes during DNA replication for the viral genome to be maintained and segregated. {ECO:0000269|PubMed:17189189}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for DDX11-TSPAN11


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for DDX11-TSPAN11


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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Related Drugs for DDX11-TSPAN11


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for DDX11-TSPAN11


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