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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180523 | |
| UniProtAcc | P49915 | |
| Context | PubMed: GMPS [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for GMPS from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for GMPS |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for GMPS |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_378971 | 3 | 155611306:155611488:155615715:155615830:155621651:155621749 | 155615715:155615830 | ENSG00000163655.11 | ENST00000496455.2 |
| exon_skip_378972 | 3 | 155621651:155621749:155623948:155624052:155628480:155628599 | 155623948:155624052 | ENSG00000163655.11 | ENST00000476145.1,ENST00000496455.2,ENST00000295920.7 |
| exon_skip_378973 | 3 | 155632207:155632359:155633807:155633981:155637021:155637127 | 155633807:155633981 | ENSG00000163655.11 | ENST00000496455.2,ENST00000295920.7 |
| exon_skip_378974 | 3 | 155637021:155637127:155639975:155640091:155643029:155643155 | 155639975:155640091 | ENSG00000163655.11 | ENST00000496455.2,ENST00000295920.7 |
| exon_skip_378975 | 3 | 155643029:155643155:155649553:155649669:155652704:155652835 | 155649553:155649669 | ENSG00000163655.11 | ENST00000496455.2,ENST00000295920.7 |
| exon_skip_378976 | 3 | 155649553:155649669:155652704:155652835:155654126:155654299 | 155652704:155652835 | ENSG00000163655.11 | ENST00000496455.2,ENST00000295920.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GMPS |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_378971 | 3 | 155611306:155611488:155615715:155615830:155621651:155621749 | 155615715:155615830 | ENSG00000163655.11 | ENST00000496455.2 |
| exon_skip_378972 | 3 | 155621651:155621749:155623948:155624052:155628480:155628599 | 155623948:155624052 | ENSG00000163655.11 | ENST00000496455.2,ENST00000295920.7,ENST00000476145.1 |
| exon_skip_378973 | 3 | 155632207:155632359:155633807:155633981:155637021:155637127 | 155633807:155633981 | ENSG00000163655.11 | ENST00000496455.2,ENST00000295920.7 |
| exon_skip_378974 | 3 | 155637021:155637127:155639975:155640091:155643029:155643155 | 155639975:155640091 | ENSG00000163655.11 | ENST00000496455.2,ENST00000295920.7 |
| exon_skip_378975 | 3 | 155643029:155643155:155649553:155649669:155652704:155652835 | 155649553:155649669 | ENSG00000163655.11 | ENST00000496455.2,ENST00000295920.7 |
| exon_skip_378976 | 3 | 155649553:155649669:155652704:155652835:155654126:155654299 | 155652704:155652835 | ENSG00000163655.11 | ENST00000496455.2,ENST00000295920.7 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000496455 | 155615715 | 155615830 | Frame-shift |
| ENST00000496455 | 155623948 | 155624052 | Frame-shift |
| ENST00000496455 | 155639975 | 155640091 | Frame-shift |
| ENST00000496455 | 155649553 | 155649669 | Frame-shift |
| ENST00000496455 | 155652704 | 155652835 | Frame-shift |
| ENST00000496455 | 155633807 | 155633981 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000496455 | 155615715 | 155615830 | Frame-shift |
| ENST00000496455 | 155623948 | 155624052 | Frame-shift |
| ENST00000496455 | 155639975 | 155640091 | Frame-shift |
| ENST00000496455 | 155649553 | 155649669 | Frame-shift |
| ENST00000496455 | 155652704 | 155652835 | Frame-shift |
| ENST00000496455 | 155633807 | 155633981 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GMPS |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 | 155633807 | 155633981 | 1374 | 1547 | 346 | 404 |
| Loci of skipped exons in GTEx 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 | 155633807 | 155633981 | 1374 | 1547 | 346 | 404 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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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SNVs in the skipped exons for GMPS |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| BLCA | TCGA-DK-AA6W-01 | exon_skip_378973 | 155633808 | 155633981 | 155633812 | 155633812 | Frame_Shift_Del | C | - | p.A348fs |
| STAD | TCGA-HU-A4GC-01 | exon_skip_378974 | 155639976 | 155640091 | 155640046 | 155640046 | Frame_Shift_Del | C | - | p.N463fs |
| COAD | TCGA-D5-6540-01 | exon_skip_378974 | 155639976 | 155640091 | 155640070 | 155640070 | Frame_Shift_Del | T | - | p.D471fs |
| DLBC | TCGA-GR-7351-01 | exon_skip_378973 | 155633808 | 155633981 | 155633817 | 155633817 | Nonsense_Mutation | G | T | p.E350X |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_378973 | 155633808 | 155633981 | 155633955 | 155633955 | Nonsense_Mutation | G | T | p.E396* |
| LUAD | TCGA-17-Z010-01 | exon_skip_378975 | 155649554 | 155649669 | 155649577 | 155649577 | Nonsense_Mutation | C | A | p.Y528* |
| READ | TCGA-F5-6814-01 | exon_skip_378976 | 155652705 | 155652835 | 155652736 | 155652736 | Nonsense_Mutation | G | T | p.E570X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| HCC2450_LUNG | 155615716 | 155615830 | 155615730 | 155615730 | Missense_Mutation | C | T | p.S75F |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 155615716 | 155615830 | 155615801 | 155615801 | Missense_Mutation | C | T | p.P99S |
| HEC1A_ENDOMETRIUM | 155633808 | 155633981 | 155633852 | 155633852 | Missense_Mutation | G | T | p.E361D |
| CAOV4_OVARY | 155633808 | 155633981 | 155633902 | 155633902 | Missense_Mutation | C | G | p.S378C |
| EFM19_BREAST | 155633808 | 155633981 | 155633970 | 155633970 | Missense_Mutation | T | G | p.L401V |
| KE39_STOMACH | 155639976 | 155640091 | 155640080 | 155640080 | Missense_Mutation | A | T | p.S475C |
| MS1_SKIN | 155639976 | 155640091 | 155640080 | 155640080 | Missense_Mutation | A | T | p.S475C |
| MS1_LUNG | 155639976 | 155640091 | 155640080 | 155640081 | Missense_Mutation | AG | TT | p.S475F |
| MS1_SKIN | 155639976 | 155640091 | 155640081 | 155640081 | Missense_Mutation | G | T | p.S475I |
| LOVO_LARGE_INTESTINE | 155649554 | 155649669 | 155649569 | 155649569 | Missense_Mutation | T | A | p.Y526N |
| NCIH2030_LUNG | 155649554 | 155649669 | 155649660 | 155649660 | Missense_Mutation | A | G | p.N556S |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 155652705 | 155652835 | 155652727 | 155652727 | Missense_Mutation | C | T | p.P567S |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 155652705 | 155652835 | 155652760 | 155652760 | Missense_Mutation | A | G | p.T578A |
| KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 155652705 | 155652835 | 155652835 | 155652835 | Splice_Site | G | - | p.G603fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GMPS |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GMPS |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GMPS |
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RelatedDrugs for GMPS |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P49915 | DB00142 | Glutamic Acid | GMP synthase [glutamine-hydrolyzing] | small molecule | approved|nutraceutical |
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RelatedDiseases for GMPS |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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