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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 MRPL1 |
 Gene summary |
| Gene information | Gene symbol | MRPL1 | Gene ID | 65008 |
| Gene name | mitochondrial ribosomal protein L1 | |
| Synonyms | BM022|L1MT|MRP-L1 | |
| Cytomap | 4q21.1 | |
| Type of gene | protein-coding | |
| Description | 39S ribosomal protein L1, mitochondrialmitochondrial large ribosomal subunit protein uL1m | |
| 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 MRPL1 |
| 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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ENSG00000169288
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000504901.2 | MRPL1-203:lncRNA:MRPL1 | 5.097390e+01 | -2.026058e+00 | 1.358746e-04 | 9.613203e-04 |
| TC | DOWN | ENST00000504901.2 | MRPL1-203:lncRNA:MRPL1 | 4.709829e+01 | -1.085709e+00 | 6.930568e-03 | 4.271625e-02 |
| 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 MRPL1 |
| 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_147633 | chr4 | 77909266:77909372:77949797:77949878:77952489:77952749 | 77949797:77949878 |
| exon_skip_147820 | chr4 | 77871744:77871855:77883242:77883500:77885256:77885318 | 77883242:77883500 |
| exon_skip_182975 | chr4 | 77894139:77894250:77906946:77907210:77909266:77909312 | 77906946:77907210 |
| exon_skip_236715 | chr4 | 77883249:77883500:77885256:77885339:77887220:77887291 | 77885256:77885339 |
| exon_skip_253559 | chr4 | 77862830:77862879:77871744:77871855:77883242:77883498 | 77871744:77871855 |
| exon_skip_269468 | chr4 | 77862830:77862879:77871744:77871855:77883242:77883392 | 77871744:77871855 |
| exon_skip_81857 | chr4 | 77885256:77885339:77887220:77887291:77894139:77894250 | 77887220:77887291 |
| exon_skip_86802 | chr4 | 77894139:77894250:77909266:77909372:77949797:77949878 | 77909266:77909372 |
| 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 MRPL1 |
| 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 |
| ENST00000315567 | 77871744 | 77871855 | Frame-shift |
| ENST00000315567 | 77909266 | 77909372 | Frame-shift |
| ENST00000315567 | 77885256 | 77885339 | In-frame |
| ENST00000315567 | 77887220 | 77887291 | 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 |
| ENST00000315567 | 77871744 | 77871855 | Frame-shift |
| ENST00000315567 | 77949797 | 77949878 | 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 |
| ENST00000315567 | 77871744 | 77871855 | Frame-shift |
| ENST00000315567 | 77883242 | 77883500 | Frame-shift |
| ENST00000315567 | 77909266 | 77909372 | Frame-shift |
| ENST00000315567 | 77885256 | 77885339 | In-frame |
| ENST00000315567 | 77887220 | 77887291 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MRPL1 |
p-ENSG00000169288_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 |
| ENST00000315567 | 1507 | 325 | 77885256 | 77885339 | 733 | 815 | 134 | 162 |
| ENST00000315567 | 1507 | 325 | 77887220 | 77887291 | 817 | 887 | 162 | 186 |
| 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 |
| ENST00000315567 | 1507 | 325 | 77885256 | 77885339 | 733 | 815 | 134 | 162 |
| ENST00000315567 | 1507 | 325 | 77887220 | 77887291 | 817 | 887 | 162 | 186 |
| 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 |
| Q9BYD6 | 134 | 162 | 51 | 325 | Chain | ID=PRO_0000252440;Note=39S ribosomal protein L1%2C mitochondrial |
| Q9BYD6 | 162 | 186 | 51 | 325 | Chain | ID=PRO_0000252440;Note=39S ribosomal protein L1%2C mitochondrial |
| Q9BYD6 | 162 | 186 | 177 | 177 | Natural variant | ID=VAR_027866;Note=F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17855456,PMID:15489334 |
| 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 |
| Q9BYD6 | 134 | 162 | 51 | 325 | Chain | ID=PRO_0000252440;Note=39S ribosomal protein L1%2C mitochondrial |
| Q9BYD6 | 162 | 186 | 51 | 325 | Chain | ID=PRO_0000252440;Note=39S ribosomal protein L1%2C mitochondrial |
| Q9BYD6 | 162 | 186 | 177 | 177 | Natural variant | ID=VAR_027866;Note=F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17855456,PMID:15489334 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MRPL1 |
| 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 MRPL1 |
| - 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 MRPL1 |
| 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 MRPL1 |
| 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 MRPL1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| TC | RBFOX2 | exon_skip_182975 | -5.433761e-01 | 1.134935e-13 |
| TC | ELAVL4 | exon_skip_182975 | -5.905995e-01 | 2.035782e-16 |
| TC | KHDRBS2 | exon_skip_182975 | -6.156995e-01 | 4.546831e-18 |
| TC | KHDRBS3 | exon_skip_182975 | -4.939738e-01 | 3.183778e-11 |
| TC | HNRNPA0 | exon_skip_182975 | -4.618494e-01 | 7.882046e-10 |
| TC | HNRNPD | exon_skip_182975 | -4.201083e-01 | 3.195233e-08 |
| TC | RALYL | exon_skip_182975 | -6.143605e-01 | 5.617108e-18 |
| TC | HNRNPH2 | exon_skip_182975 | -5.289370e-01 | 6.483496e-13 |
| TC | NOVA1 | exon_skip_182975 | -4.356697e-01 | 8.517326e-09 |
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RelatedDrugs for MRPL1 |
| 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 MRPL1 |
| 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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