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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:DDIT3-CTDSP2 (FusionGDB2 ID:21819)

Fusion Gene Summary for DDIT3-CTDSP2

check button Fusion gene summary
Fusion gene informationFusion gene name: DDIT3-CTDSP2
Fusion gene ID: 21819
HgeneTgene
Gene symbol

DDIT3

CTDSP2

Gene ID

1649

10106

Gene nameDNA damage inducible transcript 3CTD small phosphatase 2
SynonymsAltDDIT3|C/EBPzeta|CEBPZ|CHOP|CHOP-10|CHOP10|GADD153OS4|PSR2|SCP2
Cytomap

12q13.3

12q14.1

Type of geneprotein-codingprotein-coding
DescriptionDNA damage-inducible transcript 3 proteinC/EBP zetaCCAAT/enhancer-binding protein homologous proteinalternative DDIT3 proteinc/EBP-homologous protein 10growth arrest and DNA damage-inducible protein GADD153carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2NLI-interacting factor 2conserved gene amplified in osteosarcomanuclear LIM interactor-intera
Modification date2020031320200313
UniProtAcc

P35638

O14595

Ensembl transtripts involved in fusion geneENST00000346473, ENST00000547303, 
ENST00000551116, ENST00000552740, 
ENST00000398073, ENST00000547701, 
ENST00000548823, 
Fusion gene scores* DoF score5 X 11 X 4=22012 X 10 X 7=840
# samples 1113
** MAII scorelog2(11/220*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/840*10)=-2.69187770463767
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DDIT3 [Title/Abstract] AND CTDSP2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDDIT3(57914200)-CTDSP2(58218102), # samples:1
DDIT3(57914200)-CTDSP2(58218101), # 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
HgeneDDIT3

GO:0000122

negative regulation of transcription by RNA polymerase II

18940792

HgeneDDIT3

GO:0006986

response to unfolded protein

18940792

HgeneDDIT3

GO:0007050

cell cycle arrest

22496745

HgeneDDIT3

GO:0032792

negative regulation of CREB transcription factor activity

8622660

HgeneDDIT3

GO:0034976

response to endoplasmic reticulum stress

18940792|19061639|20829347

HgeneDDIT3

GO:0042789

mRNA transcription by RNA polymerase II

14667815

HgeneDDIT3

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

17872950

HgeneDDIT3

GO:0043433

negative regulation of DNA-binding transcription factor activity

16434966

HgeneDDIT3

GO:0045454

cell redox homeostasis

14667815

HgeneDDIT3

GO:0045892

negative regulation of transcription, DNA-templated

18940792

HgeneDDIT3

GO:0045893

positive regulation of transcription, DNA-templated

15322075|15775988

HgeneDDIT3

GO:0045944

positive regulation of transcription by RNA polymerase II

22065586

HgeneDDIT3

GO:0070059

intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress

18940792|20829347

HgeneDDIT3

GO:1903026

negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding

8622660

HgeneDDIT3

GO:1990440

positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress

15322075|24939851

HgeneDDIT3

GO:2000016

negative regulation of determination of dorsal identity

16434966

TgeneCTDSP2

GO:0006470

protein dephosphorylation

12721286


check buttonFusion gene breakpoints across DDIT3 (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 CTDSP2 (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
ChimerDB4GBMTCGA-06-0238-01ADDIT3chr12

57914200

-CTDSP2chr12

58218101

-
ChimerDB4GBMTCGA-06-0238DDIT3chr12

57914200

-CTDSP2chr12

58218102

-


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Fusion Gene ORF analysis for DDIT3-CTDSP2

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-3CDSENST00000346473ENST00000398073DDIT3chr12

57914200

-CTDSP2chr12

58218101

-
5UTR-3CDSENST00000346473ENST00000398073DDIT3chr12

57914200

-CTDSP2chr12

58218102

-
5UTR-3CDSENST00000547303ENST00000398073DDIT3chr12

57914200

-CTDSP2chr12

58218101

-
5UTR-3CDSENST00000547303ENST00000398073DDIT3chr12

57914200

-CTDSP2chr12

58218102

-
5UTR-3CDSENST00000551116ENST00000398073DDIT3chr12

57914200

-CTDSP2chr12

58218101

-
5UTR-3CDSENST00000551116ENST00000398073DDIT3chr12

57914200

-CTDSP2chr12

58218102

-
5UTR-3CDSENST00000552740ENST00000398073DDIT3chr12

57914200

-CTDSP2chr12

58218101

-
5UTR-3CDSENST00000552740ENST00000398073DDIT3chr12

57914200

-CTDSP2chr12

58218102

-
5UTR-5UTRENST00000346473ENST00000547701DDIT3chr12

57914200

-CTDSP2chr12

58218101

-
5UTR-5UTRENST00000346473ENST00000547701DDIT3chr12

57914200

-CTDSP2chr12

58218102

-
5UTR-5UTRENST00000547303ENST00000547701DDIT3chr12

57914200

-CTDSP2chr12

58218101

-
5UTR-5UTRENST00000547303ENST00000547701DDIT3chr12

57914200

-CTDSP2chr12

58218102

-
5UTR-5UTRENST00000551116ENST00000547701DDIT3chr12

57914200

-CTDSP2chr12

58218101

-
5UTR-5UTRENST00000551116ENST00000547701DDIT3chr12

57914200

-CTDSP2chr12

58218102

-
5UTR-5UTRENST00000552740ENST00000547701DDIT3chr12

57914200

-CTDSP2chr12

58218101

-
5UTR-5UTRENST00000552740ENST00000547701DDIT3chr12

57914200

-CTDSP2chr12

58218102

-
5UTR-intronENST00000346473ENST00000548823DDIT3chr12

57914200

-CTDSP2chr12

58218101

-
5UTR-intronENST00000346473ENST00000548823DDIT3chr12

57914200

-CTDSP2chr12

58218102

-
5UTR-intronENST00000547303ENST00000548823DDIT3chr12

57914200

-CTDSP2chr12

58218101

-
5UTR-intronENST00000547303ENST00000548823DDIT3chr12

57914200

-CTDSP2chr12

58218102

-
5UTR-intronENST00000551116ENST00000548823DDIT3chr12

57914200

-CTDSP2chr12

58218101

-
5UTR-intronENST00000551116ENST00000548823DDIT3chr12

57914200

-CTDSP2chr12

58218102

-
5UTR-intronENST00000552740ENST00000548823DDIT3chr12

57914200

-CTDSP2chr12

58218101

-
5UTR-intronENST00000552740ENST00000548823DDIT3chr12

57914200

-CTDSP2chr12

58218102

-

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 DDIT3-CTDSP2


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)

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 DDIT3-CTDSP2


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/:57914200/:58218102)
- 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
DDIT3

P35638

CTDSP2

O14595

FUNCTION: Multifunctional transcription factor in endoplasmic reticulum (ER) stress response (PubMed:15322075, PubMed:15775988, PubMed:19672300). Plays an essential role in the response to a wide variety of cell stresses and induces cell cycle arrest and apoptosis in response to ER stress (PubMed:15322075, PubMed:15775988). Plays a dual role both as an inhibitor of CCAAT/enhancer-binding protein (C/EBP) function and as an activator of other genes (By similarity). Acts as a dominant-negative regulator of C/EBP-induced transcription: dimerizes with members of the C/EBP family, impairs their association with C/EBP binding sites in the promoter regions, and inhibits the expression of C/EBP regulated genes (By similarity). Positively regulates the transcription of TRIB3, IL6, IL8, IL23, TNFRSF10B/DR5, PPP1R15A/GADD34, BBC3/PUMA, BCL2L11/BIM and ERO1L (PubMed:15775988, PubMed:17709599, PubMed:22761832, PubMed:20876114). Negatively regulates; expression of BCL2 and MYOD1, ATF4-dependent transcriptional activation of asparagine synthetase (ASNS), CEBPA-dependent transcriptional activation of hepcidin (HAMP) and CEBPB-mediated expression of peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:18940792, PubMed:19672300, PubMed:20829347). Together with ATF4, mediates ER-mediated cell death by promoting expression of genes involved in cellular amino acid metabolic processes, mRNA translation and the unfolded protein response (UPR) in response to ER stress (By similarity). Inhibits the canonical Wnt signaling pathway by binding to TCF7L2/TCF4, impairing its DNA-binding properties and repressing its transcriptional activity (PubMed:16434966). Plays a regulatory role in the inflammatory response through the induction of caspase-11 (CASP4/CASP11) which induces the activation of caspase-1 (CASP1) and both these caspases increase the activation of pro-IL1B to mature IL1B which is involved in the inflammatory response (By similarity). Acts as a major regulator of postnatal neovascularization through regulation of endothelial nitric oxide synthase (NOS3)-related signaling (By similarity). {ECO:0000250|UniProtKB:P35639, ECO:0000269|PubMed:15322075, ECO:0000269|PubMed:15775988, ECO:0000269|PubMed:16434966, ECO:0000269|PubMed:17709599, ECO:0000269|PubMed:18940792, ECO:0000269|PubMed:19672300, ECO:0000269|PubMed:20829347, ECO:0000269|PubMed:20876114, ECO:0000269|PubMed:22761832}.FUNCTION: Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residue repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation. Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells. May contribute to the development of sarcomas. {ECO:0000269|PubMed:12721286, ECO:0000269|PubMed:15681389}.

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 DDIT3-CTDSP2


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 DDIT3-CTDSP2


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 DDIT3-CTDSP2


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 DDIT3-CTDSP2


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