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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for DHCR7 |
Gene summary |
Gene information | Gene symbol | DHCR7 | Gene ID | 1717 |
Gene name | 7-dehydrocholesterol reductase | |
Synonyms | SLOS | |
Cytomap | 11q13.4 | |
Type of gene | protein-coding | |
Description | 7-dehydrocholesterol reductase7-DHC reductasedelta-7-dehydrocholesterol reductasedelta7-sterol reductaseputative sterol reductase SR-2sterol delta-7-reductasesterol reductase SR-2 | |
Modification date | 20200313 | |
UniProtAcc | A0A024R5F7, A0A0S2Z3N8, A0A0S2Z3S3, A0A0S2Z3U5, A0A1Y1B909, A0A1Y1BBN3, | |
Context |
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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Gene structures and expression levels for DHCR7 |
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. |
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 |
CB | DOWN | ENST00000407721.6 | DHCR7-202:protein_coding:DHCR7 | 7.682170e+01 | -2.722645e+00 | 3.175530e-06 | 4.010414e-05 |
TC | DOWN | ENST00000407721.6 | DHCR7-202:protein_coding:DHCR7 | 1.409374e+02 | -1.748093e+00 | 1.034919e-05 | 2.661917e-04 |
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 DHCR7 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_114480 | chr11 | 71434965:71435190:71435442:71435839:71437812:71437943 | 71435442:71435839 |
exon_skip_18728 | chr11 | 71444855:71444958:71447610:71447734:71448290:71448356 | 71447610:71447734 |
exon_skip_203195 | chr11 | 71444855:71444958:71447610:71447726:71448290:71448356 | 71447610:71447726 |
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 DHCR7 |
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 |
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 |
ENST00000355527 | 71447610 | 71447734 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for DHCR7 |
p-ENSG00000172893_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 |
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 |
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 |
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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DHCR7 |
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 |
Mayo | ENST00000355527 | 71447610 | 71447734 | hsa-miR-7856-5p | chr11:71447670-71447677 | 8mer-1a | chr11:71447670-71447693 | 158.00 | -21.77 |
Mayo | ENST00000355527 | 71447610 | 71447734 | hsa-miR-8067 | chr11:71447679-71447686 | 8mer-1a | chr11:71447670-71447693 | 158.00 | -21.77 |
Mayo | ENST00000355527 | 71447610 | 71447734 | hsa-miR-6770-5p | chr11:71447714-71447721 | 8mer-1a | chr11:71447697-71447721 | 154.00 | -22.28 |
Mayo | ENST00000355527 | 71447610 | 71447734 | hsa-miR-5088-3p | chr11:71447640-71447647 | 8mer-1a | chr11:71447638-71447658 | 155.00 | -15.14 |
Mayo | ENST00000355527 | 71447610 | 71447734 | hsa-miR-6071 | chr11:71447636-71447643 | 8mer-1a | chr11:71447626-71447646 | 150.00 | -16.73 |
Mayo | ENST00000355527 | 71447610 | 71447734 | hsa-miR-6508-5p | chr11:71447679-71447686 | 8mer-1a | chr11:71447670-71447693 | 158.00 | -21.77 |
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SNVs in the skipped exons for DHCR7 |
- 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 DHCR7 |
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 DHCR7 |
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 DHCR7 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for DHCR7 |
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 DHCR7 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |