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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:CIC-DUX4 (FusionGDB2 ID:HG23152TG100288687)

Fusion Gene Summary for CIC-DUX4

check button Fusion gene summary
Fusion gene informationFusion gene name: CIC-DUX4
Fusion gene ID: hg23152tg100288687
HgeneTgene
Gene symbol

CIC

DUX4

Gene ID

23152

100288687

Gene namecapicua transcriptional repressordouble homeobox 4
SynonymsMRD45DUX4L
Cytomap('CIC')('DUX4')

19q13.2

4q35.2

Type of geneprotein-codingprotein-coding
Descriptionprotein capicua homologdouble homeobox protein 4double homeobox 4-likedouble homeobox protein 10double homeobox protein 4/10
Modification date2020031320200313
UniProtAcc

Q96RK0

.
Ensembl transtripts involved in fusion geneENST00000160740, ENST00000572681, 
ENST00000575354, ENST00000575839, 
Fusion gene scores* DoF score13 X 12 X 6=9362 X 2 X 2=8
# samples 122
** MAII scorelog2(12/936*10)=-2.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: CIC [Title/Abstract] AND DUX4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint
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
TgeneDUX4

GO:0006915

apoptotic process

17588759

TgeneDUX4

GO:0045944

positive regulation of transcription by RNA polymerase II

17984056|24589735|30315230

TgeneDUX4

GO:0070317

negative regulation of G0 to G1 transition

24589735



check button Fusion gene information
* 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
ChimerKB3..CICchr19

42799949

+DUX4chr10

135484981

+
ChimerKB4..CICchr19

42799949

+DUX4chr10

135484981

+


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Fusion Gene ORF analysis for CIC-DUX4

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-intronENST00000160740ENST00000554285CICchr19

42799949

+DUX4chr10

135484981

+
5CDS-intronENST00000160740ENST00000556625CICchr19

42799949

+DUX4chr10

135484981

+
5CDS-intronENST00000160740ENST00000605758CICchr19

42799949

+DUX4chr10

135484981

+
5CDS-intronENST00000572681ENST00000554285CICchr19

42799949

+DUX4chr10

135484981

+
5CDS-intronENST00000572681ENST00000556625CICchr19

42799949

+DUX4chr10

135484981

+
5CDS-intronENST00000572681ENST00000605758CICchr19

42799949

+DUX4chr10

135484981

+
5CDS-intronENST00000575354ENST00000554285CICchr19

42799949

+DUX4chr10

135484981

+
5CDS-intronENST00000575354ENST00000556625CICchr19

42799949

+DUX4chr10

135484981

+
5CDS-intronENST00000575354ENST00000605758CICchr19

42799949

+DUX4chr10

135484981

+
intron-intronENST00000575839ENST00000554285CICchr19

42799949

+DUX4chr10

135484981

+
intron-intronENST00000575839ENST00000556625CICchr19

42799949

+DUX4chr10

135484981

+
intron-intronENST00000575839ENST00000605758CICchr19

42799949

+DUX4chr10

135484981

+

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 CIC-DUX4


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)


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Fusion Protein Features for CIC-DUX4


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/:/:)
- 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
CIC

Q96RK0

.
FUNCTION: Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development. {ECO:0000250|UniProtKB:Q924A2}.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 CIC-DUX4


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 CIC-DUX4


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 CIC-DUX4


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 CIC-DUX4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCICC4539848MENTAL RETARDATION, AUTOSOMAL DOMINANT 453GENOMICS_ENGLAND;UNIPROT
HgeneCICC0020796Profound Mental Retardation2CTD_human
HgeneCICC0025363Mental Retardation, Psychosocial2CTD_human
HgeneCICC0917816Mental deficiency2CTD_human
HgeneCICC3714756Intellectual Disability2CTD_human
HgeneCICC0027627Neoplasm Metastasis1CTD_human
HgeneCICC0041671Attention Deficit Disorder1CTD_human
HgeneCICC0087012Ataxia, Spinocerebellar1CTD_human
HgeneCICC0752120Spinocerebellar Ataxia Type 11CTD_human
HgeneCICC0752121Spinocerebellar Ataxia Type 21CTD_human
HgeneCICC0752122Spinocerebellar Ataxia Type 41CTD_human
HgeneCICC0752123Spinocerebellar Ataxia Type 51CTD_human
HgeneCICC0752124Spinocerebellar Ataxia Type 6 (disorder)1CTD_human
HgeneCICC0752125Spinocerebellar Ataxia Type 71CTD_human
HgeneCICC1263846Attention deficit hyperactivity disorder1CTD_human
HgeneCICC1321905Minimal Brain Dysfunction1CTD_human
HgeneCICC1510586Autism Spectrum Disorders1CTD_human
TgeneC0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
TgeneC0023453L2 Acute Lymphoblastic Leukemia1CTD_human
TgeneC0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human
TgeneC0238288Muscular Dystrophy, Facioscapulohumeral1CTD_human;ORPHANET
TgeneC1834673Facioscapulohumeral muscular dystrophy 1a1GENOMICS_ENGLAND
TgeneC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human