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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:DIDO1-CTCF (FusionGDB2 ID:HG11083TG10664)

Fusion Gene Summary for DIDO1-CTCF

check button Fusion gene summary
Fusion gene informationFusion gene name: DIDO1-CTCF
Fusion gene ID: hg11083tg10664
HgeneTgene
Gene symbol

DIDO1

CTCF

Gene ID

11083

10664

Gene namedeath inducer-obliterator 1CCCTC-binding factor
SynonymsBYE1|C20orf158|DATF-1|DATF1|DIDO2|DIDO3|DIO-1|DIO1|dJ885L7.8CFAP108|FAP108|MRD21
Cytomap('DIDO1')('CTCF')

20q13.33

16q22.1

Type of geneprotein-codingprotein-coding
Descriptiondeath-inducer obliterator 1death-associated transcription factor 1transcriptional repressor CTCF11 zinc finger transcriptional repressor11-zinc finger proteinCCCTC-binding factor (zinc finger protein)CTCFL paralog
Modification date2020031320200313
UniProtAcc.

P49711

Ensembl transtripts involved in fusion geneENST00000266070, ENST00000266071, 
ENST00000370371, ENST00000395335, 
ENST00000354665, ENST00000370366, 
ENST00000370368, ENST00000395340, 
ENST00000395343, 
Fusion gene scores* DoF score12 X 9 X 8=8649 X 9 X 4=324
# samples 138
** MAII scorelog2(13/864*10)=-2.73251968913501
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/324*10)=-2.01792190799726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DIDO1 [Title/Abstract] AND CTCF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDIDO1(61569148)-CTCF(67605051), # 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
TgeneCTCF

GO:0000122

negative regulation of transcription by RNA polymerase II

8649389

TgeneCTCF

GO:0016584

nucleosome positioning

18654629

TgeneCTCF

GO:0045892

negative regulation of transcription, DNA-templated

8649389|18413740

TgeneCTCF

GO:0045893

positive regulation of transcription, DNA-templated

9407128



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
ChimerDB4BRCATCGA-A2-A04Q-01ADIDO1chr20

61569148

-CTCFchr16

67605051

+


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Fusion Gene ORF analysis for DIDO1-CTCF

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
5UTR-5UTRENST00000266070ENST00000264010DIDO1chr20

61569148

-CTCFchr16

67605051

+
5UTR-5UTRENST00000266070ENST00000401394DIDO1chr20

61569148

-CTCFchr16

67605051

+
5UTR-5UTRENST00000266071ENST00000264010DIDO1chr20

61569148

-CTCFchr16

67605051

+
5UTR-5UTRENST00000266071ENST00000401394DIDO1chr20

61569148

-CTCFchr16

67605051

+
5UTR-5UTRENST00000370371ENST00000264010DIDO1chr20

61569148

-CTCFchr16

67605051

+
5UTR-5UTRENST00000370371ENST00000401394DIDO1chr20

61569148

-CTCFchr16

67605051

+
5UTR-5UTRENST00000395335ENST00000264010DIDO1chr20

61569148

-CTCFchr16

67605051

+
5UTR-5UTRENST00000395335ENST00000401394DIDO1chr20

61569148

-CTCFchr16

67605051

+
intron-5UTRENST00000354665ENST00000264010DIDO1chr20

61569148

-CTCFchr16

67605051

+
intron-5UTRENST00000354665ENST00000401394DIDO1chr20

61569148

-CTCFchr16

67605051

+
intron-5UTRENST00000370366ENST00000264010DIDO1chr20

61569148

-CTCFchr16

67605051

+
intron-5UTRENST00000370366ENST00000401394DIDO1chr20

61569148

-CTCFchr16

67605051

+
intron-5UTRENST00000370368ENST00000264010DIDO1chr20

61569148

-CTCFchr16

67605051

+
intron-5UTRENST00000370368ENST00000401394DIDO1chr20

61569148

-CTCFchr16

67605051

+
intron-5UTRENST00000395340ENST00000264010DIDO1chr20

61569148

-CTCFchr16

67605051

+
intron-5UTRENST00000395340ENST00000401394DIDO1chr20

61569148

-CTCFchr16

67605051

+
intron-5UTRENST00000395343ENST00000264010DIDO1chr20

61569148

-CTCFchr16

67605051

+
intron-5UTRENST00000395343ENST00000401394DIDO1chr20

61569148

-CTCFchr16

67605051

+

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 DIDO1-CTCF


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)
DIDO1chr2061569147-CTCFchr1667605050+1.46E-081
DIDO1chr2061569147-CTCFchr1667605050+1.46E-081


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 DIDO1-CTCF


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/:61569148/:67605051)
- 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
.CTCF

P49711

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: Chromatin binding factor that binds to DNA sequence specific sites. Involved in transcriptional regulation by binding to chromatin insulators and preventing interaction between promoter and nearby enhancers and silencers. Acts as transcriptional repressor binding to promoters of vertebrate MYC gene and BAG1 gene. Also binds to the PLK and PIM1 promoters. Acts as a transcriptional activator of APP. Regulates APOA1/C3/A4/A5 gene cluster and controls MHC class II gene expression. Plays an essential role in oocyte and preimplantation embryo development by activating or repressing transcription. Seems to act as tumor suppressor. Plays a critical role in the epigenetic regulation. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, binding within the H19 imprinting control region (ICR) mediates maternally inherited higher-order chromatin conformation to restrict enhancer access to IGF2. Plays a critical role in gene silencing over considerable distances in the genome. Preferentially interacts with unmethylated DNA, preventing spreading of CpG methylation and maintaining methylation-free zones. Inversely, binding to target sites is prevented by CpG methylation. Plays an important role in chromatin remodeling. Can dimerize when it is bound to different DNA sequences, mediating long-range chromatin looping. Mediates interchromosomal association between IGF2/H19 and WSB1/NF1 and may direct distant DNA segments to a common transcription factory. Causes local loss of histone acetylation and gain of histone methylation in the beta-globin locus, without affecting transcription. When bound to chromatin, it provides an anchor point for nucleosomes positioning. Seems to be essential for homologous X-chromosome pairing. May participate with Tsix in establishing a regulatable epigenetic switch for X chromosome inactivation. May play a role in preventing the propagation of stable methylation at the escape genes from X- inactivation. Involved in sister chromatid cohesion. Associates with both centromeres and chromosomal arms during metaphase and required for cohesin localization to CTCF sites. Regulates asynchronous replication of IGF2/H19. Plays a role in the recruitment of CENPE to the pericentromeric/centromeric regions of the chromosome during mitosis (PubMed:26321640). {ECO:0000269|PubMed:11743158, ECO:0000269|PubMed:16815976, ECO:0000269|PubMed:17827499, ECO:0000269|PubMed:18347100, ECO:0000269|PubMed:18413740, ECO:0000269|PubMed:18550811, ECO:0000269|PubMed:18654629, ECO:0000269|PubMed:19322193, ECO:0000269|PubMed:26321640, ECO:0000269|PubMed:8649389, ECO:0000269|PubMed:9591631}.

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 DIDO1-CTCF


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 DIDO1-CTCF


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 DIDO1-CTCF


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 DIDO1-CTCF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDIDO1C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneC3809686MENTAL RETARDATION, AUTOSOMAL DOMINANT 217CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0079773Lymphoma, T-Cell, Cutaneous1CTD_human
TgeneC0376407Granulomatous Slack Skin1CTD_human
TgeneC1860789Leukemia, Megakaryoblastic, of Down Syndrome1CTD_human
TgeneC1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND