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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 MTRF1 |
Gene summary |
Gene information | Gene symbol | MTRF1 | Gene ID | 9617 |
Gene name | mitochondrial translation release factor 1 | |
Synonyms | MRF1|MTTRF1|RF1 | |
Cytomap | 13q14.11 | |
Type of gene | protein-coding | |
Description | peptide chain release factor 1, mitochondrialMRF-1mitochondrial translational release factor 1mitochontrial peptide chain release factor 1mtRF-1 | |
Modification date | 20200313 | |
UniProtAcc | ||
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 MTRF1 |
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 MTRF1 |
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_100365 | chr13 | 41260493:41260915:41262411:41262481:41263485:41263538 | 41262411:41262481 |
exon_skip_131520 | chr13 | 41233890:41234007:41240261:41240433:41252645:41252752 | 41240261:41240433 |
exon_skip_138140 | chr13 | 41261691:41261825:41262411:41262481:41263485:41263538 | 41262411:41262481 |
exon_skip_161951 | chr13 | 41216975:41217228:41223256:41223354:41226432:41226568 | 41223256:41223354 |
exon_skip_186623 | chr13 | 41254529:41254620:41257673:41257796:41260493:41260586 | 41257673:41257796 |
exon_skip_200805 | chr13 | 41261333:41261825:41262411:41262481:41263485:41263538 | 41262411:41262481 |
exon_skip_209309 | chr13 | 41216975:41217228:41220537:41220643:41223256:41223354 | 41220537:41220643 |
exon_skip_246966 | chr13 | 41260493:41260915:41261691:41261825:41262215:41262262 | 41261691:41261825 |
exon_skip_269112 | chr13 | 41260493:41260915:41262048:41262331:41263485:41263538 | 41262048:41262331 |
exon_skip_269745 | chr13 | 41254529:41254620:41257673:41257797:41260493:41260586 | 41257673:41257797 |
exon_skip_286384 | chr13 | 41254529:41254620:41257673:41257797:41260493:41260915 | 41257673:41257797 |
exon_skip_53910 | chr13 | 41260493:41260915:41261691:41261825:41262215:41262331 | 41261691:41261825 |
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 MTRF1 |
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 |
ENST00000379477 | 41261691 | 41261825 | 3UTR-3UTR |
ENST00000379477 | 41240261 | 41240433 | Frame-shift |
ENST00000379480 | 41240261 | 41240433 | Frame-shift |
ENST00000379477 | 41223256 | 41223354 | In-frame |
ENST00000379480 | 41223256 | 41223354 | 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 |
ENST00000379477 | 41261691 | 41261825 | 3UTR-3UTR |
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 |
ENST00000379477 | 41261691 | 41261825 | 3UTR-3UTR |
ENST00000379477 | 41240261 | 41240433 | Frame-shift |
ENST00000379480 | 41240261 | 41240433 | Frame-shift |
ENST00000379477 | 41223256 | 41223354 | In-frame |
ENST00000379480 | 41223256 | 41223354 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MTRF1 |
p-ENSG00000120662_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 |
ENST00000379477 | 1965 | 445 | 41223256 | 41223354 | 1596 | 1693 | 375 | 407 |
ENST00000379480 | 2202 | 445 | 41223256 | 41223354 | 1227 | 1324 | 375 | 407 |
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 |
ENST00000379477 | 1965 | 445 | 41223256 | 41223354 | 1596 | 1693 | 375 | 407 |
ENST00000379480 | 2202 | 445 | 41223256 | 41223354 | 1227 | 1324 | 375 | 407 |
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 |
O75570 | 375 | 407 | 407 | 407 | Natural variant | ID=VAR_051789;Note=I->V;Dbxref=dbSNP:rs9315812 |
O75570 | 375 | 407 | 407 | 407 | Natural variant | ID=VAR_051789;Note=I->V;Dbxref=dbSNP:rs9315812 |
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 |
O75570 | 375 | 407 | 407 | 407 | Natural variant | ID=VAR_051789;Note=I->V;Dbxref=dbSNP:rs9315812 |
O75570 | 375 | 407 | 407 | 407 | Natural variant | ID=VAR_051789;Note=I->V;Dbxref=dbSNP:rs9315812 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MTRF1 |
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 | ENST00000379477 | 41261691 | 41261825 | hsa-miR-4693-3p | chr13:41261773-41261780 | 8mer-1a | chr13:41261758-41261780 | 162.00 | -18.11 |
Mayo | ENST00000379477 | 41261691 | 41261825 | hsa-miR-6787-3p | chr13:41261816-41261823 | 8mer-1a | chr13:41261802-41261823 | 141.00 | -14.74 |
MSBB | ENST00000379477 | 41261691 | 41261825 | hsa-miR-4693-3p | chr13:41261773-41261780 | 8mer-1a | chr13:41261758-41261780 | 162.00 | -18.11 |
MSBB | ENST00000379477 | 41261691 | 41261825 | hsa-miR-6787-3p | chr13:41261816-41261823 | 8mer-1a | chr13:41261802-41261823 | 141.00 | -14.74 |
ROSMAP | ENST00000379477 | 41261691 | 41261825 | hsa-miR-4693-3p | chr13:41261773-41261780 | 8mer-1a | chr13:41261758-41261780 | 162.00 | -18.11 |
ROSMAP | ENST00000379477 | 41261691 | 41261825 | hsa-miR-6787-3p | chr13:41261816-41261823 | 8mer-1a | chr13:41261802-41261823 | 141.00 | -14.74 |
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SNVs in the skipped exons for MTRF1 |
- 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 MTRF1 |
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 MTRF1 |
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 MTRF1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for MTRF1 |
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 MTRF1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |