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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:DR1-CCDC18 (FusionGDB2 ID:24118)

Fusion Gene Summary for DR1-CCDC18

check button Fusion gene summary
Fusion gene informationFusion gene name: DR1-CCDC18
Fusion gene ID: 24118
HgeneTgene
Gene symbol

DR1

CCDC18

Gene ID

1810

343099

Gene namedown-regulator of transcription 1coiled-coil domain containing 18
SynonymsNC2|NC2-BETA|NC2B|NCB2NY-SAR-41
Cytomap

1p22.1

1p22.1

Type of geneprotein-codingprotein-coding
Descriptionprotein Dr1TATA-binding protein-associated phosphoproteinnegative cofactor 2negative cofactor 2-betacoiled-coil domain-containing protein 18sarcoma antigen NY-SAR-24sarcoma antigen NY-SAR-41
Modification date2020031320200313
UniProtAcc.

A1A4V9

Ensembl transtripts involved in fusion geneENST00000370272, ENST00000370267, 
ENST00000481583, 		ENST00000343253, 
ENST00000401026, ENST00000338949, 
ENST00000334652, ENST00000557479, 
ENST00000421014, 
Fusion gene scores* DoF score4 X 3 X 3=367 X 12 X 5=420
# samples 511
** MAII scorelog2(5/36*10)=0.473931188332412
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(11/420*10)=-1.93288580414146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DR1 [Title/Abstract] AND CCDC18 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDR1(93819628)-CCDC18(93730258), # samples:2
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
HgeneDR1

GO:0043966

histone H3 acetylation

18838386


check buttonFusion gene breakpoints across DR1 (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 CCDC18 (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-VQ-A91XDR1chr1

93819628

+CCDC18chr1

93730257

+
ChimerDB4STADTCGA-VQ-A91X-01ADR1chr1

93819628

+CCDC18chr1

93730258

+
ChimerDB4STADTCGA-VQ-A91X-01ADR1chr1

93819628

-CCDC18chr1

93730258

+


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Fusion Gene ORF analysis for DR1-CCDC18

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
In-frameENST00000370272ENST00000343253DR1chr1

93819628

+CCDC18chr1

93730257

+
In-frameENST00000370272ENST00000401026DR1chr1

93819628

+CCDC18chr1

93730257

+
5CDS-3UTRENST00000370272ENST00000338949DR1chr1

93819628

+CCDC18chr1

93730257

+
5CDS-3UTRENST00000370272ENST00000334652DR1chr1

93819628

+CCDC18chr1

93730257

+
5CDS-3UTRENST00000370272ENST00000557479DR1chr1

93819628

+CCDC18chr1

93730257

+
5CDS-intronENST00000370272ENST00000421014DR1chr1

93819628

+CCDC18chr1

93730257

+
In-frameENST00000370267ENST00000343253DR1chr1

93819628

+CCDC18chr1

93730257

+
In-frameENST00000370267ENST00000401026DR1chr1

93819628

+CCDC18chr1

93730257

+
5CDS-3UTRENST00000370267ENST00000338949DR1chr1

93819628

+CCDC18chr1

93730257

+
5CDS-3UTRENST00000370267ENST00000334652DR1chr1

93819628

+CCDC18chr1

93730257

+
5CDS-3UTRENST00000370267ENST00000557479DR1chr1

93819628

+CCDC18chr1

93730257

+
5CDS-intronENST00000370267ENST00000421014DR1chr1

93819628

+CCDC18chr1

93730257

+
intron-3CDSENST00000481583ENST00000343253DR1chr1

93819628

+CCDC18chr1

93730257

+
intron-3CDSENST00000481583ENST00000401026DR1chr1

93819628

+CCDC18chr1

93730257

+
intron-3UTRENST00000481583ENST00000338949DR1chr1

93819628

+CCDC18chr1

93730257

+
intron-3UTRENST00000481583ENST00000334652DR1chr1

93819628

+CCDC18chr1

93730257

+
intron-3UTRENST00000481583ENST00000557479DR1chr1

93819628

+CCDC18chr1

93730257

+
intron-intronENST00000481583ENST00000421014DR1chr1

93819628

+CCDC18chr1

93730257

+
In-frameENST00000370272ENST00000343253DR1chr1

93819628

+CCDC18chr1

93730258

+
In-frameENST00000370272ENST00000401026DR1chr1

93819628

+CCDC18chr1

93730258

+
5CDS-3UTRENST00000370272ENST00000338949DR1chr1

93819628

+CCDC18chr1

93730258

+
5CDS-3UTRENST00000370272ENST00000334652DR1chr1

93819628

+CCDC18chr1

93730258

+
5CDS-3UTRENST00000370272ENST00000557479DR1chr1

93819628

+CCDC18chr1

93730258

+
5CDS-intronENST00000370272ENST00000421014DR1chr1

93819628

+CCDC18chr1

93730258

+
In-frameENST00000370267ENST00000343253DR1chr1

93819628

+CCDC18chr1

93730258

+
In-frameENST00000370267ENST00000401026DR1chr1

93819628

+CCDC18chr1

93730258

+
5CDS-3UTRENST00000370267ENST00000338949DR1chr1

93819628

+CCDC18chr1

93730258

+
5CDS-3UTRENST00000370267ENST00000334652DR1chr1

93819628

+CCDC18chr1

93730258

+
5CDS-3UTRENST00000370267ENST00000557479DR1chr1

93819628

+CCDC18chr1

93730258

+
5CDS-intronENST00000370267ENST00000421014DR1chr1

93819628

+CCDC18chr1

93730258

+
intron-3CDSENST00000481583ENST00000343253DR1chr1

93819628

+CCDC18chr1

93730258

+
intron-3CDSENST00000481583ENST00000401026DR1chr1

93819628

+CCDC18chr1

93730258

+
intron-3UTRENST00000481583ENST00000338949DR1chr1

93819628

+CCDC18chr1

93730258

+
intron-3UTRENST00000481583ENST00000334652DR1chr1

93819628

+CCDC18chr1

93730258

+
intron-3UTRENST00000481583ENST00000557479DR1chr1

93819628

+CCDC18chr1

93730258

+
intron-intronENST00000481583ENST00000421014DR1chr1

93819628

+CCDC18chr1

93730258

+

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 DR1-CCDC18


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)
DR1chr193819628+CCDC18chr193730257+2.34E-081
DR1chr193819628+CCDC18chr193730257+2.34E-081
DR1chr193819628+CCDC18chr193730257+2.34E-081
DR1chr193819628+CCDC18chr193730257+2.34E-081

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.

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Fusion Protein Features for DR1-CCDC18


check button Go to

FGviewer for the breakpoints of chr1:93819628-chr1:93730257

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.CCDC18

A1A4V9

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneDR1chr1:93819628chr1:93730257ENST00000370267+3412_75128.0177.0DomainHistone-fold
HgeneDR1chr1:93819628chr1:93730257ENST00000370272+2312_75128.0177.0DomainHistone-fold
HgeneDR1chr1:93819628chr1:93730258ENST00000370267+3412_75128.0177.0DomainHistone-fold
HgeneDR1chr1:93819628chr1:93730258ENST00000370272+2312_75128.0177.0DomainHistone-fold
HgeneDR1chr1:93819628chr1:93730257ENST00000370267+34100_103128.0177.0MotifNuclear localization signal
HgeneDR1chr1:93819628chr1:93730257ENST00000370272+23100_103128.0177.0MotifNuclear localization signal
HgeneDR1chr1:93819628chr1:93730258ENST00000370267+34100_103128.0177.0MotifNuclear localization signal
HgeneDR1chr1:93819628chr1:93730258ENST00000370272+23100_103128.0177.0MotifNuclear localization signal

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDR1chr1:93819628chr1:93730257ENST00000370267+34121_168128.0177.0Compositional biasNote=Ala/Gln-rich
HgeneDR1chr1:93819628chr1:93730257ENST00000370272+23121_168128.0177.0Compositional biasNote=Ala/Gln-rich
HgeneDR1chr1:93819628chr1:93730258ENST00000370267+34121_168128.0177.0Compositional biasNote=Ala/Gln-rich
HgeneDR1chr1:93819628chr1:93730258ENST00000370272+23121_168128.0177.0Compositional biasNote=Ala/Gln-rich
TgeneCCDC18chr1:93819628chr1:93730257ENST000003432532529107_1381227.01455.0Coiled coilOntology_term=ECO:0000255
TgeneCCDC18chr1:93819628chr1:93730257ENST000003432532529170_4021227.01455.0Coiled coilOntology_term=ECO:0000255
TgeneCCDC18chr1:93819628chr1:93730257ENST000003432532529438_4641227.01455.0Coiled coilOntology_term=ECO:0000255
TgeneCCDC18chr1:93819628chr1:93730257ENST000003432532529508_13091227.01455.0Coiled coilOntology_term=ECO:0000255
TgeneCCDC18chr1:93819628chr1:93730258ENST000003432532529107_1381227.01455.0Coiled coilOntology_term=ECO:0000255
TgeneCCDC18chr1:93819628chr1:93730258ENST000003432532529170_4021227.01455.0Coiled coilOntology_term=ECO:0000255
TgeneCCDC18chr1:93819628chr1:93730258ENST000003432532529438_4641227.01455.0Coiled coilOntology_term=ECO:0000255
TgeneCCDC18chr1:93819628chr1:93730258ENST000003432532529508_13091227.01455.0Coiled coilOntology_term=ECO:0000255


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Fusion Gene Sequence for DR1-CCDC18


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 DR1-CCDC18


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 DR1-CCDC18


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 DR1-CCDC18


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