|
Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for DHRS3 |
Gene summary |
Gene information | Gene symbol | DHRS3 | Gene ID | 9249 |
Gene name | dehydrogenase/reductase 3 | |
Synonyms | DD83.1|RDH17|Rsdr1|SDR1|SDR16C1|retSDR1 | |
Cytomap | 1p36.21 | |
Type of gene | protein-coding | |
Description | short-chain dehydrogenase/reductase 3dehydrogenase/reductase (SDR family) member 3dehydrogenase/reductase member 3retinal short-chain dehydrogenase/reductase 1retinol dehydrogenase 17short chain dehydrogenase/reductase family 16C member 1short-chain | |
Modification date | 20180523 | |
UniProtAcc | O75911 | |
Context | PubMed: DHRS3 [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 |
Top |
Exon skipping events across known transcript of Ensembl for DHRS3 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. |
Top |
Gene isoform structures and expression levels for DHRS3 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for DHRS3 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_21921 | 1 | 12628420:12628453:12632755:12632881:12638745:12638984 | 12632755:12632881 | ENSG00000162496.4 | ENST00000376223.2 |
exon_skip_21922 | 1 | 12628420:12628453:12632755:12632881:12640550:12640694 | 12632755:12632881 | ENSG00000162496.4 | ENST00000464917.1 |
exon_skip_21928 | 1 | 12632755:12632881:12638745:12638984:12639320:12639440 | 12638745:12638984 | ENSG00000162496.4 | ENST00000376223.2 |
exon_skip_21932 | 1 | 12638745:12638984:12639320:12639440:12640550:12640694 | 12639320:12639440 | ENSG00000162496.4 | ENST00000376223.2,ENST00000430996.1 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for DHRS3 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_21921 | 1 | 12628420:12628453:12632755:12632881:12638745:12638984 | 12632755:12632881 | ENSG00000162496.4 | ENST00000376223.2 |
exon_skip_21922 | 1 | 12628420:12628453:12632755:12632881:12640550:12640694 | 12632755:12632881 | ENSG00000162496.4 | ENST00000464917.1 |
exon_skip_21928 | 1 | 12632755:12632881:12638745:12638984:12639320:12639440 | 12638745:12638984 | ENSG00000162496.4 | ENST00000376223.2 |
exon_skip_21932 | 1 | 12638745:12638984:12639320:12639440:12640550:12640694 | 12639320:12639440 | ENSG00000162496.4 | ENST00000376223.2,ENST00000430996.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for DHRS3 |
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 |
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 |
Top |
Infer the effects of exon skipping event on protein functional features for DHRS3 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
Top |
SNVs in the skipped exons for DHRS3 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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 |
LIHC | TCGA-DD-A39Y-01 | exon_skip_21922 exon_skip_21921 | 12632756 | 12632881 | 12632781 | 12632781 | Frame_Shift_Del | T | - | p.M267fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_21928 | 12638746 | 12638984 | 12638912 | 12638912 | Frame_Shift_Del | C | - | p.A178fs |
CESC | TCGA-EA-A411-01 | exon_skip_21922 exon_skip_21921 | 12632756 | 12632881 | 12632817 | 12632817 | Nonsense_Mutation | G | A | p.Q255* |
- 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 |
VMCUB1_URINARY_TRACT | 12632756 | 12632881 | 12632761 | 12632761 | Missense_Mutation | C | G | p.L273F |
LMSU_STOMACH | 12632756 | 12632881 | 12632826 | 12632826 | Missense_Mutation | C | T | p.E252K |
SNUC4_LARGE_INTESTINE | 12632756 | 12632881 | 12632873 | 12632873 | Missense_Mutation | T | C | p.N236S |
SNU1040_LARGE_INTESTINE | 12638746 | 12638984 | 12638798 | 12638798 | Missense_Mutation | T | C | p.T216A |
SNU1040_LARGE_INTESTINE | 12638746 | 12638984 | 12638855 | 12638855 | Missense_Mutation | C | T | p.A197T |
SN12C_KIDNEY | 12638746 | 12638984 | 12638908 | 12638908 | Missense_Mutation | A | C | p.L179R |
MCC13_SKIN | 12638746 | 12638984 | 12638920 | 12638920 | Missense_Mutation | G | A | p.S175F |
NCIH250_LUNG | 12638746 | 12638984 | 12638947 | 12638947 | Missense_Mutation | T | C | p.Q166R |
SNUC4_LARGE_INTESTINE | 12639321 | 12639440 | 12639334 | 12639334 | Missense_Mutation | A | G | p.L149P |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DHRS3 |
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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DHRS3 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DHRS3 |
Top |
RelatedDrugs for DHRS3 |
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 |
O75911 | DB00162 | Vitamin A | Short-chain dehydrogenase/reductase 3 | small molecule | approved|nutraceutical|vet_approved |
Top |
RelatedDiseases for DHRS3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
DHRS3 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |