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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 MRPL39 |
Gene summary |
Gene information | Gene symbol | MRPL39 | Gene ID | 54148 |
Gene name | mitochondrial ribosomal protein L39 | |
Synonyms | C21orf92|L39mt|MRP-L5|MRPL5|MSTP003|PRED22|PRED66|RPML5 | |
Cytomap | 21q21.3 | |
Type of gene | protein-coding | |
Description | 39S ribosomal protein L39, mitochondrial39S ribosomal protein L5, mitochondrialL5mtMRP-L39mitochondrial large ribosomal subunit protein mL39 | |
Modification date | 20200313 | |
UniProtAcc | C9JG87, Q9NYK5, | |
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 MRPL39 |
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 |
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 MRPL39 |
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_118009 | chr21 | 25585656:25585754:25588835:25588882:25592812:25592960 | 25588835:25588882 |
exon_skip_179031 | chr21 | 25599799:25599866:25601368:25601467:25603796:25603935 | 25601368:25601467 |
exon_skip_190582 | chr21 | 25588835:25588882:25592812:25592965:25593893:25593958 | 25592812:25592965 |
exon_skip_203829 | chr21 | 25585656:25585754:25588835:25588882:25592812:25592965 | 25588835:25588882 |
exon_skip_224698 | chr21 | 25601368:25601467:25603796:25603935:25606449:25606655 | 25603796:25603935 |
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 MRPL39 |
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 |
ENST00000352957 | 25592812 | 25592965 | Frame-shift |
ENST00000352957 | 25603796 | 25603935 | Frame-shift |
ENST00000352957 | 25588835 | 25588882 | 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 |
ENST00000352957 | 25603796 | 25603935 | 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 |
ENST00000352957 | 25592812 | 25592965 | Frame-shift |
ENST00000352957 | 25601368 | 25601467 | Frame-shift |
ENST00000352957 | 25603796 | 25603935 | Frame-shift |
ENST00000352957 | 25588835 | 25588882 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MRPL39 |
p-ENSG00000154719_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 |
ENST00000352957 | 1127 | 338 | 25588835 | 25588882 | 964 | 1010 | 307 | 322 |
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 |
ENST00000352957 | 1127 | 338 | 25588835 | 25588882 | 964 | 1010 | 307 | 322 |
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 |
Q9NYK5 | 307 | 322 | 1 | 338 | Chain | ID=PRO_0000087684;Note=39S ribosomal protein L39%2C mitochondrial |
Q9NYK5 | 307 | 322 | 310 | 319 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OOM |
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 |
Q9NYK5 | 307 | 322 | 1 | 338 | Chain | ID=PRO_0000087684;Note=39S ribosomal protein L39%2C mitochondrial |
Q9NYK5 | 307 | 322 | 310 | 319 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5OOM |
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3'-UTR located exon skipping events that lost miRNA binding sites in MRPL39 |
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 MRPL39 |
- 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 MRPL39 |
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 MRPL39 |
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 MRPL39 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for MRPL39 |
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 MRPL39 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |