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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for DHCR24 |
 Gene summary |
| Gene information | Gene symbol | DHCR24 | Gene ID | 1718 |
| Gene name | 24-dehydrocholesterol reductase | |
| Synonyms | DCE|Nbla03646|SELADIN1|seladin-1 | |
| Cytomap | 1p32.3 | |
| Type of gene | protein-coding | |
| Description | delta(24)-sterol reductase3 beta-hydroxysterol delta 24-reductasedesmosterol-to-cholesterol enzymediminuto/dwarf1 homologseladin 1selective AD indicator 1 | |
| Modification date | 20200320 | |
| UniProtAcc | ||
| Context | - 29115990(DHCR24 Exerts Neuroprotection Upon Inflammation-Induced Neuronal Death) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| DHCR24 | GO:0043066 | negative regulation of apoptotic process | 15688385 |
| DHCR24 | GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 11007892 |
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Gene structures and expression levels for DHCR24 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000116133
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for DHCR24 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_110283 | chr1 | 54865303:54865446:54871350:54871613:54875093:54875211 | 54871350:54871613 |
| exon_skip_129473 | chr1 | 54875976:54876047:54879749:54879805:54883618:54883773 | 54879749:54879805 |
| exon_skip_170793 | chr1 | 54854037:54854234:54865303:54865446:54871350:54871613 | 54865303:54865446 |
| exon_skip_209000 | chr1 | 54854037:54854234:54855989:54856024:54865303:54865446 | 54855989:54856024 |
| exon_skip_89140 | chr1 | 54875942:54876047:54879060:54879319:54883618:54883773 | 54879060:54879319 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for DHCR24 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000371269 | 54865303 | 54865446 | In-frame |
| ENST00000371269 | 54871350 | 54871613 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB 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 Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000371269 | 54865303 | 54865446 | In-frame |
| ENST00000371269 | 54871350 | 54871613 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DHCR24 |
p-ENSG00000116133_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000371269 | 4267 | 516 | 54871350 | 54871613 | 712 | 974 | 204 | 291 |
| ENST00000371269 | 4267 | 516 | 54865303 | 54865446 | 976 | 1118 | 292 | 339 |
| Loci of skipped exons in MSBB 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 Mayo 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 |
| ENST00000371269 | 4267 | 516 | 54871350 | 54871613 | 712 | 974 | 204 | 291 |
| ENST00000371269 | 4267 | 516 | 54865303 | 54865446 | 976 | 1118 | 292 | 339 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q15392 | 204 | 291 | 23 | 516 | Chain | ID=PRO_0000007230;Note=Delta(24)-sterol reductase |
| Q15392 | 204 | 291 | 58 | 234 | Domain | Note=FAD-binding PCMH-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00718 |
| Q15392 | 204 | 291 | 53 | 516 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q15392 | 292 | 339 | 23 | 516 | Chain | ID=PRO_0000007230;Note=Delta(24)-sterol reductase |
| Q15392 | 292 | 339 | 294 | 294 | Natural variant | ID=VAR_012733;Note=In DESMOS. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11519011;Dbxref=dbSNP:rs281797257,PMID:11519011 |
| Q15392 | 292 | 339 | 306 | 306 | Natural variant | ID=VAR_012734;Note=In DESMOS. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11519011;Dbxref=dbSNP:rs281797256,PMID:11519011 |
| Q15392 | 292 | 339 | 53 | 516 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 Mayo. |
| 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 |
| Q15392 | 204 | 291 | 23 | 516 | Chain | ID=PRO_0000007230;Note=Delta(24)-sterol reductase |
| Q15392 | 204 | 291 | 58 | 234 | Domain | Note=FAD-binding PCMH-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00718 |
| Q15392 | 204 | 291 | 53 | 516 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q15392 | 292 | 339 | 23 | 516 | Chain | ID=PRO_0000007230;Note=Delta(24)-sterol reductase |
| Q15392 | 292 | 339 | 294 | 294 | Natural variant | ID=VAR_012733;Note=In DESMOS. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11519011;Dbxref=dbSNP:rs281797257,PMID:11519011 |
| Q15392 | 292 | 339 | 306 | 306 | Natural variant | ID=VAR_012734;Note=In DESMOS. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11519011;Dbxref=dbSNP:rs281797256,PMID:11519011 |
| Q15392 | 292 | 339 | 53 | 516 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DHCR24 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for DHCR24 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for DHCR24 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DHCR24 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for DHCR24 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for DHCR24 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for DHCR24 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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