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Fusion Gene Summary | |
Fusion Gene ORF analysis | |
Fusion Genomic Features | |
Fusion Protein Features | |
Fusion Gene Sequence | |
Fusion Gene PPI analysis | |
Related Drugs | |
Related Diseases |
Fusion gene:DDIT3-CTDSP2 (FusionGDB2 ID:21819) |
Fusion Gene Summary for DDIT3-CTDSP2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: DDIT3-CTDSP2 | Fusion gene ID: 21819 | Hgene | Tgene | Gene symbol | DDIT3 | CTDSP2 | Gene ID | 1649 | 10106 |
Gene name | DNA damage inducible transcript 3 | CTD small phosphatase 2 | |
Synonyms | AltDDIT3|C/EBPzeta|CEBPZ|CHOP|CHOP-10|CHOP10|GADD153 | OS4|PSR2|SCP2 | |
Cytomap | 12q13.3 | 12q14.1 | |
Type of gene | protein-coding | protein-coding | |
Description | DNA damage-inducible transcript 3 proteinC/EBP zetaCCAAT/enhancer-binding protein homologous proteinalternative DDIT3 proteinc/EBP-homologous protein 10growth arrest and DNA damage-inducible protein GADD153 | carboxy-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 date | 20200313 | 20200313 | |
UniProtAcc | P35638 | O14595 | |
Ensembl transtripts involved in fusion gene | ENST00000346473, ENST00000547303, ENST00000551116, ENST00000552740, | ENST00000398073, ENST00000547701, ENST00000548823, | |
Fusion gene scores | * DoF score | 5 X 11 X 4=220 | 12 X 10 X 7=840 |
# samples | 11 | 13 | |
** MAII score | log2(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 breakpoint | DDIT3(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | DDIT3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 18940792 |
Hgene | DDIT3 | GO:0006986 | response to unfolded protein | 18940792 |
Hgene | DDIT3 | GO:0007050 | cell cycle arrest | 22496745 |
Hgene | DDIT3 | GO:0032792 | negative regulation of CREB transcription factor activity | 8622660 |
Hgene | DDIT3 | GO:0034976 | response to endoplasmic reticulum stress | 18940792|19061639|20829347 |
Hgene | DDIT3 | GO:0042789 | mRNA transcription by RNA polymerase II | 14667815 |
Hgene | DDIT3 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 17872950 |
Hgene | DDIT3 | GO:0043433 | negative regulation of DNA-binding transcription factor activity | 16434966 |
Hgene | DDIT3 | GO:0045454 | cell redox homeostasis | 14667815 |
Hgene | DDIT3 | GO:0045892 | negative regulation of transcription, DNA-templated | 18940792 |
Hgene | DDIT3 | GO:0045893 | positive regulation of transcription, DNA-templated | 15322075|15775988 |
Hgene | DDIT3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 22065586 |
Hgene | DDIT3 | GO:0070059 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 18940792|20829347 |
Hgene | DDIT3 | GO:1903026 | negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding | 8622660 |
Hgene | DDIT3 | GO:1990440 | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress | 15322075|24939851 |
Hgene | DDIT3 | GO:2000016 | negative regulation of determination of dorsal identity | 16434966 |
Tgene | CTDSP2 | GO:0006470 | protein dephosphorylation | 12721286 |
Fusion 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. |
Fusion 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. |
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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | GBM | TCGA-06-0238-01A | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218101 | - |
ChimerDB4 | GBM | TCGA-06-0238 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218102 | - |
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Fusion Gene ORF analysis for DDIT3-CTDSP2 |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3CDS | ENST00000346473 | ENST00000398073 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218101 | - |
5UTR-3CDS | ENST00000346473 | ENST00000398073 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218102 | - |
5UTR-3CDS | ENST00000547303 | ENST00000398073 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218101 | - |
5UTR-3CDS | ENST00000547303 | ENST00000398073 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218102 | - |
5UTR-3CDS | ENST00000551116 | ENST00000398073 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218101 | - |
5UTR-3CDS | ENST00000551116 | ENST00000398073 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218102 | - |
5UTR-3CDS | ENST00000552740 | ENST00000398073 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218101 | - |
5UTR-3CDS | ENST00000552740 | ENST00000398073 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218102 | - |
5UTR-5UTR | ENST00000346473 | ENST00000547701 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218101 | - |
5UTR-5UTR | ENST00000346473 | ENST00000547701 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218102 | - |
5UTR-5UTR | ENST00000547303 | ENST00000547701 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218101 | - |
5UTR-5UTR | ENST00000547303 | ENST00000547701 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218102 | - |
5UTR-5UTR | ENST00000551116 | ENST00000547701 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218101 | - |
5UTR-5UTR | ENST00000551116 | ENST00000547701 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218102 | - |
5UTR-5UTR | ENST00000552740 | ENST00000547701 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218101 | - |
5UTR-5UTR | ENST00000552740 | ENST00000547701 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218102 | - |
5UTR-intron | ENST00000346473 | ENST00000548823 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218101 | - |
5UTR-intron | ENST00000346473 | ENST00000548823 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218102 | - |
5UTR-intron | ENST00000547303 | ENST00000548823 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218101 | - |
5UTR-intron | ENST00000547303 | ENST00000548823 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218102 | - |
5UTR-intron | ENST00000551116 | ENST00000548823 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218101 | - |
5UTR-intron | ENST00000551116 | ENST00000548823 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218102 | - |
5UTR-intron | ENST00000552740 | ENST00000548823 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218101 | - |
5UTR-intron | ENST00000552740 | ENST00000548823 | DDIT3 | chr12 | 57914200 | - | CTDSP2 | chr12 | 58218102 | - |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
DeepORF 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. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for DDIT3-CTDSP2 |
FusionAI 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. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Distribution 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. |
Distribution 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 |
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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
DDIT3 | CTDSP2 |
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}. |
Retention 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 * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for DDIT3-CTDSP2 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for DDIT3-CTDSP2 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for DDIT3-CTDSP2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |