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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 EPDR1 |
Gene summary |
Gene information | Gene symbol | EPDR1 | Gene ID | 54749 |
Gene name | ependymin related 1 | |
Synonyms | EPDR|MERP-1|MERP1|UCC1 | |
Cytomap | 7p14.1 | |
Type of gene | protein-coding | |
Description | mammalian ependymin-related protein 1ependymin related protein 1mammalian ependymin related protein 1upregulated in colorectal cancer gene 1 protein | |
Modification date | 20200313 | |
UniProtAcc | ||
Context | - 28222521(The Effects of LW-AFC on the Hippocampal Transcriptome in Senescence-Accelerated Mouse Prone 8 Strain, a Mouse Model of Alzheimer's Disease) |
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 EPDR1 |
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 | UP | ENST00000423717.1 | EPDR1-202:protein_coding:EPDR1 | 2.240390e+01 | 9.291139e-01 | 2.082571e-05 | 1.957510e-04 |
CB | UP | ENST00000425345.1 | EPDR1-203:protein_coding:EPDR1 | 1.791212e+01 | 8.107588e-01 | 1.984029e-03 | 9.161840e-03 |
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 EPDR1 |
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_271874 | chr7 | 37920658:37921208:37948840:37949048:37950200:37950286 | 37948840:37949048 |
exon_skip_57831 | chr7 | 37921320:37921451:37948840:37949048:37950200:37950286 | 37948840:37949048 |
exon_skip_87805 | chr7 | 37921069:37921208:37948840:37949048:37950200:37950286 | 37948840:37949048 |
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 EPDR1 |
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 |
ENST00000199448 | 37948840 | 37949048 | Frame-shift |
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 |
ENST00000199448 | 37948840 | 37949048 | Frame-shift |
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 |
ENST00000199448 | 37948840 | 37949048 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for EPDR1 |
p-ENSG00000086289_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 EPDR1 |
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 EPDR1 |
- 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 EPDR1 |
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 EPDR1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
CB | exon_skip_271874 | rs1450851 | chr7:37950173 | 1.042357e-04 | 1.789748e-02 |
TC | exon_skip_271874 | rs1530821 | chr7:37901595 | 5.512962e-05 | 1.024025e-02 |
DLPFC | exon_skip_271874 | rs2246951 | chr7:37948050 | 8.410238e-04 | 4.852866e-02 |
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Correlation with RNA binding proteins (RBPs) for EPDR1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
TC | SRSF2 | exon_skip_271874 | 4.275601e-01 | 4.362626e-08 |
TC | ELAVL4 | exon_skip_271874 | 5.248185e-01 | 4.603945e-12 |
TC | G3BP2 | exon_skip_271874 | 4.755607e-01 | 6.802463e-10 |
TC | PUM1 | exon_skip_271874 | 4.334389e-01 | 2.711213e-08 |
TC | HNRNPDL | exon_skip_271874 | 4.036536e-01 | 2.756884e-07 |
TC | HNRNPD | exon_skip_271874 | 4.806616e-01 | 4.204287e-10 |
TC | RALYL | exon_skip_271874 | 5.229303e-01 | 5.660409e-12 |
TC | CELF1 | exon_skip_271874 | 4.262356e-01 | 4.850130e-08 |
TC | HNRNPH2 | exon_skip_271874 | 4.763438e-01 | 6.321313e-10 |
TC | NOVA1 | exon_skip_271874 | 5.216302e-01 | 6.520777e-12 |
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RelatedDrugs for EPDR1 |
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 EPDR1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |