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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 GMPR |
 Gene summary |
| Gene information | Gene symbol | GMPR | Gene ID | 2766 |
| Gene name | guanosine monophosphate reductase | |
| Synonyms | GMPR 1|GMPR1 | |
| Cytomap | 6p22.3 | |
| Type of gene | protein-coding | |
| Description | GMP reductase 1guanine monophosphate reductaseguanosine 5'-monophosphate oxidoreductase 1guanosine monophosphate reductase 1 | |
| Modification date | 20200313 | |
| UniProtAcc | P36959, Q7Z527, | |
| Context | - 29426890(Guanosine monophosphate reductase 1 is a potential therapeutic target for 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 GMPR |
| 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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ENSG00000137198
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| PG | UP | 1.177765e+02 | 9.245499e-01 | 2.704572e-12 | 9.018265e-10 |
| 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 |
| PG | UP | ENST00000259727.5 | GMPR-201:protein_coding:GMPR | 1.020814e+02 | 9.675452e-01 | 2.764265e-13 | 6.496066e-10 |
| PG | UP | ENST00000540478.1 | GMPR-202:retained_intron:GMPR | 3.340710e+00 | 1.158430e+00 | 2.960505e-06 | 2.030133e-04 |
| CB | DOWN | ENST00000544145.1 | GMPR-204:lncRNA:GMPR | 6.552545e+01 | -9.901505e-01 | 6.808982e-04 | 3.738995e-03 |
| TC | UP | ENST00000259727.5 | GMPR-201:protein_coding:GMPR | 5.432599e+02 | 8.614446e-01 | 5.838298e-11 | 1.227971e-08 |
| 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 GMPR |
| 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_240684 | chr6 | 16246842:16246961:16250284:16250367:16254562:16254735 | 16250284:16250367 |
| exon_skip_276443 | chr6 | 16254562:16254735:16274415:16274496:16278784:16278890 | 16274415:16274496 |
| exon_skip_41108 | chr6 | 16278784:16278890:16285793:16285835:16290462:16290621 | 16285793:16285835 |
| exon_skip_90267 | chr6 | 16250284:16250367:16254562:16254735:16274415:16274496 | 16254562:16254735 |
| 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 GMPR |
| 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 |
| ENST00000259727 | 16285793 | 16285835 | Frame-shift |
| ENST00000259727 | 16250284 | 16250367 | In-frame |
| ENST00000259727 | 16254562 | 16254735 | 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 |
| ENST00000259727 | 16250284 | 16250367 | 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 |
| ENST00000259727 | 16274415 | 16274496 | Frame-shift |
| ENST00000259727 | 16285793 | 16285835 | Frame-shift |
| ENST00000259727 | 16250284 | 16250367 | In-frame |
| ENST00000259727 | 16254562 | 16254735 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GMPR |
p-ENSG00000137198_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 |
| ENST00000259727 | 1532 | 345 | 16250284 | 16250367 | 323 | 405 | 69 | 97 |
| ENST00000259727 | 1532 | 345 | 16254562 | 16254735 | 407 | 579 | 97 | 155 |
| 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 |
| ENST00000259727 | 1532 | 345 | 16250284 | 16250367 | 323 | 405 | 69 | 97 |
| 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 |
| ENST00000259727 | 1532 | 345 | 16250284 | 16250367 | 323 | 405 | 69 | 97 |
| ENST00000259727 | 1532 | 345 | 16254562 | 16254735 | 407 | 579 | 97 | 155 |
| 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 |
| P36959 | 69 | 97 | 73 | 75 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 69 | 97 | 78 | 78 | Binding site | Note=NADP;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03195 |
| P36959 | 69 | 97 | 1 | 345 | Chain | ID=PRO_0000093723;Note=GMP reductase 1 |
| P36959 | 69 | 97 | 68 | 70 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 69 | 97 | 82 | 91 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 69 | 97 | 93 | 98 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 97 | 155 | 99 | 103 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 97 | 155 | 125 | 129 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 97 | 155 | 152 | 159 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 97 | 155 | 1 | 345 | Chain | ID=PRO_0000093723;Note=GMP reductase 1 |
| P36959 | 97 | 155 | 93 | 98 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 97 | 155 | 107 | 119 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 97 | 155 | 136 | 148 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 97 | 155 | 129 | 131 | Nucleotide binding | Note=NADP;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03195 |
| 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 |
| P36959 | 69 | 97 | 73 | 75 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 69 | 97 | 78 | 78 | Binding site | Note=NADP;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03195 |
| P36959 | 69 | 97 | 1 | 345 | Chain | ID=PRO_0000093723;Note=GMP reductase 1 |
| P36959 | 69 | 97 | 68 | 70 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 69 | 97 | 82 | 91 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 69 | 97 | 93 | 98 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| 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 |
| P36959 | 69 | 97 | 73 | 75 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 69 | 97 | 78 | 78 | Binding site | Note=NADP;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03195 |
| P36959 | 69 | 97 | 1 | 345 | Chain | ID=PRO_0000093723;Note=GMP reductase 1 |
| P36959 | 69 | 97 | 68 | 70 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 69 | 97 | 82 | 91 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 69 | 97 | 93 | 98 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 97 | 155 | 99 | 103 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 97 | 155 | 125 | 129 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 97 | 155 | 152 | 159 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 97 | 155 | 1 | 345 | Chain | ID=PRO_0000093723;Note=GMP reductase 1 |
| P36959 | 97 | 155 | 93 | 98 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 97 | 155 | 107 | 119 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 97 | 155 | 136 | 148 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2BLE |
| P36959 | 97 | 155 | 129 | 131 | Nucleotide binding | Note=NADP;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03195 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GMPR |
| 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 GMPR |
| - 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 GMPR |
| 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 GMPR |
| 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 GMPR |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for GMPR |
| 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 GMPR |
| 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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