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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:DIXDC1-MCF2 (FusionGDB2 ID:HG85458TG4168)

Fusion Gene Summary for DIXDC1-MCF2

check button Fusion gene summary
Fusion gene informationFusion gene name: DIXDC1-MCF2
Fusion gene ID: hg85458tg4168
HgeneTgene
Gene symbol

DIXDC1

MCF2

Gene ID

85458

4168

Gene nameDIX domain containing 1MCF.2 cell line derived transforming sequence
SynonymsCCD1ARHGEF21|DBL
Cytomap('DIXDC1')('MCF2')

11q23.1

Xq27.1

Type of geneprotein-codingprotein-coding
Descriptiondixincoiled-coil protein DIX1proto-oncogene DBLOncogene MCF2 (oncogene DBL)proto-oncogene MCF-2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000315253, ENST00000389821, 
ENST00000440460, ENST00000529225, 
ENST00000531396, 
Fusion gene scores* DoF score7 X 6 X 4=1683 X 3 X 2=18
# samples 93
** MAII scorelog2(9/168*10)=-0.900464326449086
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DIXDC1 [Title/Abstract] AND MCF2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDIXDC1(111816805)-MCF2(138741217), # 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
HgeneDIXDC1

GO:0060070

canonical Wnt signaling pathway

21189423



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
ChiTaRS5.0N/AAB209679DIXDC1chr11

111816805

+MCF2chrX

138741217

-


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Fusion Gene ORF analysis for DIXDC1-MCF2

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
intron-intronENST00000315253ENST00000338585DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000315253ENST00000370573DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000315253ENST00000370576DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000315253ENST00000370578DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000315253ENST00000414978DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000315253ENST00000483690DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000315253ENST00000519895DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000315253ENST00000520602DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000315253ENST00000536274DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000389821ENST00000338585DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000389821ENST00000370573DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000389821ENST00000370576DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000389821ENST00000370578DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000389821ENST00000414978DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000389821ENST00000483690DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000389821ENST00000519895DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000389821ENST00000520602DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000389821ENST00000536274DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000440460ENST00000338585DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000440460ENST00000370573DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000440460ENST00000370576DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000440460ENST00000370578DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000440460ENST00000414978DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000440460ENST00000483690DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000440460ENST00000519895DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000440460ENST00000520602DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000440460ENST00000536274DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000529225ENST00000338585DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000529225ENST00000370573DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000529225ENST00000370576DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000529225ENST00000370578DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000529225ENST00000414978DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000529225ENST00000483690DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000529225ENST00000519895DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000529225ENST00000520602DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000529225ENST00000536274DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000531396ENST00000338585DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000531396ENST00000370573DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000531396ENST00000370576DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000531396ENST00000370578DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000531396ENST00000414978DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000531396ENST00000483690DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000531396ENST00000519895DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000531396ENST00000520602DIXDC1chr11

111816805

+MCF2chrX

138741217

-
intron-intronENST00000531396ENST00000536274DIXDC1chr11

111816805

+MCF2chrX

138741217

-

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 DIXDC1-MCF2


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 DIXDC1-MCF2


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/:111816805/:138741217)
- 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
..
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}.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 DIXDC1-MCF2


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 DIXDC1-MCF2


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 DIXDC1-MCF2


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 DIXDC1-MCF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDIXDC1C0003469Anxiety Disorders1CTD_human
HgeneDIXDC1C0004352Autistic Disorder1CTD_human
HgeneDIXDC1C0005586Bipolar Disorder1CTD_human
HgeneDIXDC1C0005587Depression, Bipolar1CTD_human
HgeneDIXDC1C0011573Endogenous depression1CTD_human
HgeneDIXDC1C0011581Depressive disorder1CTD_human
HgeneDIXDC1C0024713Manic Disorder1CTD_human
HgeneDIXDC1C0025193Melancholia1CTD_human
HgeneDIXDC1C0036341Schizophrenia1CTD_human
HgeneDIXDC1C0041696Unipolar Depression1CTD_human
HgeneDIXDC1C0086133Depressive Syndrome1CTD_human
HgeneDIXDC1C0282126Depression, Neurotic1CTD_human
HgeneDIXDC1C0338831Manic1CTD_human
HgeneDIXDC1C0376280Anxiety States, Neurotic1CTD_human
HgeneDIXDC1C1279420Anxiety neurosis (finding)1CTD_human