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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 RRM1 |
 Gene summary |
| Gene information | Gene symbol | RRM1 | Gene ID | 6240 |
| Gene name | ribonucleotide reductase catalytic subunit M1 | |
| Synonyms | R1|RIR1|RR1 | |
| Cytomap | 11p15.4 | |
| Type of gene | protein-coding | |
| Description | ribonucleoside-diphosphate reductase large subunitribonucleoside-diphosphate reductase subunit M1ribonucleotide reductase M1 polypeptideribonucleotide reductase, R1 subunit | |
| 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 RRM1 |
| 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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ENSG00000167325
| 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 | UP | ENST00000490543.5 | SRRM1-217:lncRNA:SRRM1 | 2.190675e+01 | 1.119721e+00 | 1.008043e-08 | 3.023183e-07 |
| CB | DOWN | ENST00000533495.5 | RRM1-213:nonsense_mediated_decay:RRM1 | 1.961785e+02 | -1.395437e+00 | 3.989772e-04 | 2.380668e-03 |
| CB | UP | ENST00000479034.5 | SRRM1-212:lncRNA:SRRM1 | 1.137266e+02 | 1.164605e+00 | 1.096725e-02 | 3.749025e-02 |
| TC | DOWN | ENST00000533495.5 | RRM1-213:nonsense_mediated_decay:RRM1 | 9.827979e+01 | -1.545534e+00 | 2.050547e-05 | 4.565637e-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 RRM1 |
| 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_173279 | chr11 | 4094852:4095031:4101993:4102081:4106046:4106147 | 4101993:4102081 |
| exon_skip_210677 | chr11 | 4101993:4102081:4105606:4105691:4106046:4106147 | 4105606:4105691 |
| exon_skip_289491 | chr11 | 4132286:4132421:4133563:4133658:4135082:4135270 | 4133563:4133658 |
| exon_skip_42626 | chr11 | 4107435:4107535:4109644:4109703:4111601:4111640 | 4109644:4109703 |
| exon_skip_60020 | chr11 | 4101993:4102081:4105606:4105691:4106046:4106223 | 4105606:4105691 |
| exon_skip_72511 | chr11 | 4101993:4102081:4106046:4106223:4107435:4107480 | 4106046:4106223 |
| exon_skip_84491 | chr11 | 4126684:4126833:4127035:4127256:4129074:4129150 | 4127035:4127256 |
| 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 RRM1 |
| 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 |
| ENST00000300738 | 4101993 | 4102081 | Frame-shift |
| ENST00000300738 | 4106046 | 4106223 | 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 |
| ENST00000300738 | 4106046 | 4106223 | Frame-shift |
| ENST00000300738 | 4127035 | 4127256 | In-frame |
| 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 |
| ENST00000300738 | 4101993 | 4102081 | Frame-shift |
| ENST00000300738 | 4106046 | 4106223 | Frame-shift |
| ENST00000300738 | 4109644 | 4109703 | In-frame |
| ENST00000300738 | 4133563 | 4133658 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RRM1 |
p-ENSG00000167325_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 |
| ENST00000300738 | 3093 | 792 | 4127035 | 4127256 | 1676 | 1896 | 490 | 564 |
| 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 |
| ENST00000300738 | 3093 | 792 | 4109644 | 4109703 | 593 | 651 | 129 | 149 |
| ENST00000300738 | 3093 | 792 | 4133563 | 4133658 | 2111 | 2205 | 635 | 667 |
| 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 |
| P23921 | 490 | 564 | 502 | 506 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WGH |
| P23921 | 490 | 564 | 519 | 521 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HND |
| P23921 | 490 | 564 | 1 | 792 | Chain | ID=PRO_0000187190;Note=Ribonucleoside-diphosphate reductase large subunit |
| P23921 | 490 | 564 | 489 | 498 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WGH |
| P23921 | 490 | 564 | 508 | 514 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WGH |
| P23921 | 490 | 564 | 522 | 550 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WGH |
| P23921 | 490 | 564 | 554 | 556 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HNE |
| P23921 | 490 | 564 | 561 | 563 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WGH |
| 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 |
| P23921 | 129 | 149 | 1 | 792 | Chain | ID=PRO_0000187190;Note=Ribonucleoside-diphosphate reductase large subunit |
| P23921 | 129 | 149 | 128 | 133 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WGH |
| P23921 | 129 | 149 | 137 | 142 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WGH |
| P23921 | 129 | 149 | 145 | 154 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WGH |
| P23921 | 635 | 667 | 632 | 637 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HNC |
| P23921 | 635 | 667 | 1 | 792 | Chain | ID=PRO_0000187190;Note=Ribonucleoside-diphosphate reductase large subunit |
| P23921 | 635 | 667 | 639 | 648 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WGH |
| P23921 | 635 | 667 | 655 | 661 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WGH |
| P23921 | 635 | 667 | 666 | 668 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6AUI |
| P23921 | 635 | 667 | 662 | 664 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HNC |
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3'-UTR located exon skipping events that lost miRNA binding sites in RRM1 |
| 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 RRM1 |
| - 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 RRM1 |
| 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 RRM1 |
| 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 RRM1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for RRM1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P23921 | approved|investigational | DB00242 | Cladribine | small molecule | P23921 |
| P23921 | approved | DB00441 | Gemcitabine | small molecule | P23921 |
| P23921 | approved|investigational | DB00631 | Clofarabine | small molecule | P23921 |
| P23921 | approved | DB01005 | Hydroxyurea | small molecule | P23921 |
| P23921 | approved | DB01073 | Fludarabine | small molecule | P23921 |
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RelatedDiseases for RRM1 |
| 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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