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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for DDIT3 |
 Gene summary |
| Gene information | Gene symbol | DDIT3 | Gene ID | 1649 |
| Gene name | DNA damage inducible transcript 3 | |
| Synonyms | C/EBPzeta|CEBPZ|CHOP|CHOP-10|CHOP10|GADD153 | |
| Cytomap | 12q13.3 | |
| Type of gene | protein-coding | |
| Description | DNA damage-inducible transcript 3 proteinC/EBP zetaCCAAT/enhancer-binding protein homologous proteinc/EBP-homologous protein 10growth arrest and DNA damage-inducible protein GADD153 | |
| Modification date | 20180527 | |
| UniProtAcc | P35638 | |
| Context | PubMed: DDIT3 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| DDIT3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 18940792 |
| DDIT3 | GO:0006986 | response to unfolded protein | 18940792 |
| DDIT3 | GO:0007050 | cell cycle arrest | 22496745 |
| DDIT3 | GO:0032792 | negative regulation of CREB transcription factor activity | 8622660 |
| DDIT3 | GO:0034976 | response to endoplasmic reticulum stress | 18940792|19061639|20829347 |
| DDIT3 | GO:0042789 | mRNA transcription by RNA polymerase II | 14667815 |
| DDIT3 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 17872950 |
| DDIT3 | GO:0043433 | negative regulation of DNA binding transcription factor activity | 16434966 |
| DDIT3 | GO:0045454 | cell redox homeostasis | 14667815 |
| DDIT3 | GO:0045892 | negative regulation of transcription, DNA-templated | 18940792 |
| DDIT3 | GO:0045893 | positive regulation of transcription, DNA-templated | 15322075|15775988 |
| DDIT3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 22065586 |
| DDIT3 | GO:0051259 | protein complex oligomerization | 18534616 |
| DDIT3 | GO:0070059 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 18940792|20829347 |
| DDIT3 | GO:1903026 | negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding | 8622660 |
| DDIT3 | GO:1990440 | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress | 15322075|24939851 |
| DDIT3 | GO:2000016 | negative regulation of determination of dorsal identity | 16434966 |
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Exon skipping events across known transcript of Ensembl for DDIT3 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for DDIT3 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for DDIT3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_94174 | 12 | 57910735:57910963:57911051:57911207:57911488:57911536 | 57911051:57911207 | ENSG00000175197.6 | ENST00000547303.1 |
| exon_skip_94175 | 12 | 57910735:57910963:57911051:57911221:57911488:57911536 | 57911051:57911221 | ENSG00000175197.6 | ENST00000346473.3 |
| exon_skip_94178 | 12 | 57910735:57910963:57911051:57911325:57911488:57911536 | 57911051:57911325 | ENSG00000175197.6 | ENST00000547526.1 |
| exon_skip_94180 | 12 | 57910735:57910963:57911051:57911378:57911488:57911536 | 57911051:57911378 | ENSG00000175197.6 | ENST00000551116.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DDIT3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_94174 | 12 | 57910735:57910963:57911051:57911207:57911488:57911536 | 57911051:57911207 | ENSG00000175197.6 | ENST00000547303.1 |
| exon_skip_94175 | 12 | 57910735:57910963:57911051:57911221:57911488:57911536 | 57911051:57911221 | ENSG00000175197.6 | ENST00000346473.3 |
| exon_skip_94178 | 12 | 57910735:57910963:57911051:57911325:57911488:57911536 | 57911051:57911325 | ENSG00000175197.6 | ENST00000547526.1 |
| exon_skip_94180 | 12 | 57910735:57910963:57911051:57911378:57911488:57911536 | 57911051:57911378 | ENSG00000175197.6 | ENST00000551116.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for DDIT3 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000346473 | 57911051 | 57911221 | 3UTR-3CDS |
| ENST00000547303 | 57911051 | 57911207 | 3UTR-3CDS |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000346473 | 57911051 | 57911221 | 3UTR-3CDS |
| ENST00000547303 | 57911051 | 57911207 | 3UTR-3CDS |
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Infer the effects of exon skipping event on protein functional features for DDIT3 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for DDIT3 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| COAD | TCGA-CK-5916-01 | exon_skip_94174 | 57911052 | 57911207 | 57911083 | 57911083 | Frame_Shift_Del | C | - | p.G59fs |
| COAD | TCGA-CK-5916-01 | exon_skip_94175 | 57911052 | 57911221 | 57911083 | 57911083 | Frame_Shift_Del | C | - | p.G59fs |
| COAD | TCGA-CK-5916-01 | exon_skip_94178 | 57911052 | 57911325 | 57911083 | 57911083 | Frame_Shift_Del | C | - | p.G59fs |
| COAD | TCGA-CK-5916-01 | exon_skip_94180 | 57911052 | 57911378 | 57911083 | 57911083 | Frame_Shift_Del | C | - | p.G59fs |
| HNSC | TCGA-P3-A6T4-01 | exon_skip_94178 | 57911052 | 57911325 | 57911229 | 57911229 | Frame_Shift_Del | A | - | p.Y10fs |
| HNSC | TCGA-P3-A6T4-01 | exon_skip_94180 | 57911052 | 57911378 | 57911229 | 57911229 | Frame_Shift_Del | A | - | p.Y10fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57911052 | 57911378 | 57911083 | 57911083 | Frame_Shift_Del | C | - | p.G36fs |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57911052 | 57911207 | 57911083 | 57911083 | Frame_Shift_Del | C | - | p.G36fs |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57911052 | 57911221 | 57911083 | 57911083 | Frame_Shift_Del | C | - | p.G36fs |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57911052 | 57911325 | 57911083 | 57911083 | Frame_Shift_Del | C | - | p.G36fs |
| EN_ENDOMETRIUM | 57911052 | 57911378 | 57911081 | 57911081 | Missense_Mutation | T | C | p.T37A |
| EN_ENDOMETRIUM | 57911052 | 57911207 | 57911081 | 57911081 | Missense_Mutation | T | C | p.T37A |
| EN_ENDOMETRIUM | 57911052 | 57911221 | 57911081 | 57911081 | Missense_Mutation | T | C | p.T37A |
| EN_ENDOMETRIUM | 57911052 | 57911325 | 57911081 | 57911081 | Missense_Mutation | T | C | p.T37A |
| MZ7MEL_SKIN | 57911052 | 57911378 | 57911086 | 57911086 | Missense_Mutation | C | T | p.G35E |
| MZ7MEL_SKIN | 57911052 | 57911207 | 57911086 | 57911086 | Missense_Mutation | C | T | p.G35E |
| MZ7MEL_SKIN | 57911052 | 57911221 | 57911086 | 57911086 | Missense_Mutation | C | T | p.G35E |
| MZ7MEL_SKIN | 57911052 | 57911325 | 57911086 | 57911086 | Missense_Mutation | C | T | p.G35E |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57911052 | 57911378 | 57911093 | 57911093 | Missense_Mutation | C | T | p.E33K |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57911052 | 57911207 | 57911093 | 57911093 | Missense_Mutation | C | T | p.E33K |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57911052 | 57911221 | 57911093 | 57911093 | Missense_Mutation | C | T | p.E33K |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57911052 | 57911325 | 57911093 | 57911093 | Missense_Mutation | C | T | p.E33K |
| A431_SKIN | 57911052 | 57911378 | 57911111 | 57911111 | Missense_Mutation | C | G | p.E27Q |
| A431_SKIN | 57911052 | 57911207 | 57911111 | 57911111 | Missense_Mutation | C | G | p.E27Q |
| A431_SKIN | 57911052 | 57911221 | 57911111 | 57911111 | Missense_Mutation | C | G | p.E27Q |
| A431_SKIN | 57911052 | 57911325 | 57911111 | 57911111 | Missense_Mutation | C | G | p.E27Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DDIT3 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_94180 | 12 | 57910735:57910963:57911051:57911378:57911488:57911536 | 57911051:57911378 | ENST00000551116.1 | COAD | rs697221 | chr12:57911160 | G/A | 2.73e-04 |
| exon_skip_94174 | 12 | 57910735:57910963:57911051:57911207:57911488:57911536 | 57911051:57911207 | ENST00000547303.1 | COAD | rs697221 | chr12:57911160 | G/A | 2.73e-04 |
| exon_skip_94175 | 12 | 57910735:57910963:57911051:57911221:57911488:57911536 | 57911051:57911221 | ENST00000346473.3 | COAD | rs697221 | chr12:57911160 | G/A | 2.73e-04 |
| exon_skip_94178 | 12 | 57910735:57910963:57911051:57911325:57911488:57911536 | 57911051:57911325 | ENST00000547526.1 | COAD | rs697221 | chr12:57911160 | G/A | 2.73e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDIT3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDIT3 |
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RelatedDrugs for DDIT3 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for DDIT3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DDIT3 | C0206634 | Liposarcoma, Myxoid | 3 | CTD_human;HPO;ORPHANET |
| DDIT3 | C0003949 | Asbestosis | 1 | CTD_human |
| DDIT3 | C0011616 | Contact Dermatitis | 1 | CTD_human |
| DDIT3 | C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | CTD_human |
| DDIT3 | C0021831 | Intestinal Diseases | 1 | CTD_human |
| DDIT3 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| DDIT3 | C0027720 | Nephrosis | 1 | CTD_human |
| DDIT3 | C0028754 | Obesity | 1 | CTD_human |
| DDIT3 | C0028840 | Ocular Hypertension | 1 | CTD_human |
| DDIT3 | C0041582 | Ulcer | 1 | CTD_human |
| DDIT3 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| DDIT3 | C3495559 | Juvenile arthritis | 1 | CTD_human |
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