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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 DHDH |
 Gene summary |
| Gene information | Gene symbol | DHDH | Gene ID | 27294 |
| Gene name | dihydrodiol dehydrogenase | |
| Synonyms | 2DD|HUM2DD | |
| Cytomap | 19q13.33 | |
| Type of gene | protein-coding | |
| Description | trans-1,2-dihydrobenzene-1,2-diol dehydrogenase3-deoxyglucosone reductaseD-xylose 1-dehydrogenaseD-xylose-NADP dehydrogenasedihydrodiol dehydrogenase (dimeric) | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UQ10 | |
| Context | PubMed: DHDH [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 |
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Exon skipping events across known transcript of Ensembl for DHDH 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 DHDH |
| 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 DHDH |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_308956 | 19 | 49438256:49438368:49439288:49439452:49442705:49442958 | 49439288:49439452 | ENSG00000104808.3 | ENST00000522614.1,ENST00000221403.2 |
| exon_skip_308960 | 19 | 49442705:49442958:49445696:49445821:49447613:49447764 | 49445696:49445821 | ENSG00000104808.3 | ENST00000221403.2 |
| exon_skip_308962 | 19 | 49442705:49442958:49447613:49447764:49448080:49448216 | 49447613:49447764 | ENSG00000104808.3 | ENST00000520557.1 |
| exon_skip_308964 | 19 | 49445696:49445821:49447613:49447764:49448080:49448216 | 49447613:49447764 | ENSG00000104808.3 | ENST00000221403.2,ENST00000523250.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DHDH |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_308956 | 19 | 49438256:49438368:49439288:49439452:49442705:49442958 | 49439288:49439452 | ENSG00000104808.3 | ENST00000221403.2,ENST00000522614.1 |
| exon_skip_308960 | 19 | 49442705:49442958:49445696:49445821:49447613:49447764 | 49445696:49445821 | ENSG00000104808.3 | ENST00000221403.2 |
| exon_skip_308962 | 19 | 49442705:49442958:49447613:49447764:49448080:49448216 | 49447613:49447764 | ENSG00000104808.3 | ENST00000520557.1 |
| exon_skip_308964 | 19 | 49445696:49445821:49447613:49447764:49448080:49448216 | 49447613:49447764 | ENSG00000104808.3 | ENST00000221403.2,ENST00000523250.1 |
| 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 DHDH |
| 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 |
| ENST00000221403 | 49439288 | 49439452 | Frame-shift |
| ENST00000221403 | 49445696 | 49445821 | Frame-shift |
| ENST00000221403 | 49447613 | 49447764 | Frame-shift |
| 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 |
| ENST00000221403 | 49439288 | 49439452 | Frame-shift |
| ENST00000221403 | 49445696 | 49445821 | Frame-shift |
| ENST00000221403 | 49447613 | 49447764 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for DHDH |
| 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 DHDH |
| - 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. |
DHDH_KIRC_exon_skip_308956_psi_boxplot.png |
| - 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 |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_308960 | 49445697 | 49445821 | 49445731 | 49445731 | Frame_Shift_Del | C | - | p.Y218fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_308960 | 49445697 | 49445821 | 49445735 | 49445735 | Frame_Shift_Del | G | - | p.G220fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_308964 exon_skip_308962 | 49447614 | 49447764 | 49447691 | 49447691 | Frame_Shift_Del | A | - | p.P274fs |
| KIRC | TCGA-CZ-5451-01 | exon_skip_308956 | 49439289 | 49439452 | 49439432 | 49439433 | Frame_Shift_Ins | - | A | p.R116fs |
| CHOL | TCGA-WD-A7RX-01 | exon_skip_308964 exon_skip_308962 | 49447614 | 49447764 | 49447641 | 49447641 | Nonsense_Mutation | G | T | p.E258X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CZ-5451-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_308956 | |
| Skipped exon start: 49439289 | |
| Skipped exon end: 49439452 | |
| Mutation start: 49439432 | |
| Mutation end: 49439433 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.R116fs | |
exon_skip_308956_KIRC_TCGA-CZ-5451-01.png | |
| - 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 |
| MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49439289 | 49439452 | 49439300 | 49439300 | Missense_Mutation | A | G | p.I72V |
| BC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49439289 | 49439452 | 49439388 | 49439388 | Missense_Mutation | T | C | p.V101A |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49439289 | 49439452 | 49439397 | 49439397 | Missense_Mutation | C | T | p.A104V |
| KYAE1_OESOPHAGUS | 49439289 | 49439452 | 49439422 | 49439422 | Missense_Mutation | G | C | p.E112D |
| WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49439289 | 49439452 | 49439433 | 49439433 | Missense_Mutation | G | A | p.R116Q |
| NB1_AUTONOMIC_GANGLIA | 49445697 | 49445821 | 49445699 | 49445699 | Missense_Mutation | G | T | p.V208L |
| OC316_OVARY | 49445697 | 49445821 | 49445765 | 49445765 | Missense_Mutation | A | G | p.I230V |
| OC314_OVARY | 49445697 | 49445821 | 49445765 | 49445765 | Missense_Mutation | A | G | p.I230V |
| NCIH524_LUNG | 49445697 | 49445821 | 49445801 | 49445801 | Missense_Mutation | G | T | p.G242C |
| SNU81_LARGE_INTESTINE | 49447614 | 49447764 | 49447641 | 49447641 | Missense_Mutation | G | A | p.E258K |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49447614 | 49447764 | 49447684 | 49447684 | Missense_Mutation | C | A | p.P272Q |
| KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49447614 | 49447764 | 49447753 | 49447753 | Missense_Mutation | G | A | p.C295Y |
| NCIH2810_PLEURA | 49447614 | 49447764 | 49447758 | 49447758 | Missense_Mutation | C | T | p.R297C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DHDH |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DHDH |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DHDH |
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RelatedDrugs for DHDH |
| 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 DHDH |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DHDH | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
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