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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 GMPS |
 Gene summary |
| Gene information | Gene symbol | GMPS | Gene ID | 8833 |
| Gene name | guanine monophosphate synthase | |
| Synonyms | GATD7 | |
| Cytomap | 3q25.31 | |
| Type of gene | protein-coding | |
| Description | GMP synthase [glutamine-hydrolyzing]GMP synthaseGMP synthetaseMLL/GMPS fusion proteinglutamine amidotransferaseguanine monophosphate synthetaseguanosine 5'-monophosphate synthasetesticular tissue protein Li 82 | |
| Modification date | 20200313 | |
| UniProtAcc | P49915, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| GMPS | GO:0006177 | GMP biosynthetic process | 8089153 |
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Gene structures and expression levels for GMPS |
| 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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ENSG00000163655
| 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 | ENST00000295920.7 | GMPS-201:protein_coding:GMPS | 4.564696e+01 | 1.500364e+00 | 7.919831e-03 | 2.871959e-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 GMPS |
| 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_209995 | chr3 | 155931765:155931880:155934916:155935046:155936338:155936510 | 155934916:155935046 |
| exon_skip_295242 | chr3 | 155903863:155903960:155906160:155906263:155910692:155910810 | 155906160:155906263 |
| exon_skip_3111 | chr3 | 155893518:155893699:155897927:155898041:155903863:155903960 | 155897927:155898041 |
| exon_skip_33628 | chr3 | 155914419:155914570:155916019:155916192:155919233:155919338 | 155916019:155916192 |
| exon_skip_36512 | chr3 | 155919233:155919338:155922187:155922302:155925241:155925366 | 155922187:155922302 |
| 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 GMPS |
| 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 |
| ENST00000496455 | 155906160 | 155906263 | 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 |
| ENST00000496455 | 155897927 | 155898041 | Frame-shift |
| ENST00000496455 | 155906160 | 155906263 | 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 |
| ENST00000496455 | 155897927 | 155898041 | Frame-shift |
| ENST00000496455 | 155906160 | 155906263 | Frame-shift |
| ENST00000496455 | 155922187 | 155922302 | Frame-shift |
| ENST00000496455 | 155934916 | 155935046 | Frame-shift |
| ENST00000496455 | 155916019 | 155916192 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GMPS |
p-ENSG00000163655_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 |
| 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 |
| ENST00000496455 | 8768 | 693 | 155916019 | 155916192 | 1375 | 1547 | 346 | 404 |
| 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 |
| 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 |
| P49915 | 346 | 404 | 361 | 365 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VXO |
| P49915 | 346 | 404 | 2 | 693 | Chain | ID=PRO_0000140257;Note=GMP synthase [glutamine-hydrolyzing] |
| P49915 | 346 | 404 | 217 | 435 | Domain | Note=GMPS ATP-PPase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00886 |
| P49915 | 346 | 404 | 333 | 354 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VXO |
| P49915 | 346 | 404 | 377 | 382 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VXO |
| P49915 | 346 | 404 | 387 | 389 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VXO |
| P49915 | 346 | 404 | 396 | 403 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2VXO |
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3'-UTR located exon skipping events that lost miRNA binding sites in GMPS |
| 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 GMPS |
| - 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 GMPS |
| 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 GMPS |
| 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 GMPS |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_295242 | -4.694415e-01 | 1.758960e-09 |
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RelatedDrugs for GMPS |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P49915 | approved|nutraceutical | DB00142 | Glutamic Acid | small molecule | P49915 |
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RelatedDiseases for GMPS |
| 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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