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mutLBSgeneDB |
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| Gene summary for GMPS |
 Gene summary |
| Basic gene Info. | Gene symbol | GMPS |
| Gene name | guanine monphosphate synthase | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 3q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003875.2, | |
| Description | GMP synthaseGMP synthase [glutamine-hydrolyzing]GMP synthetaseMLL/GMPS fusion proteinglutamine amidotransferaseguanine monphosphate synthetaseguanosine 5'-monophosphate synthase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600358 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000163655 | ||
| HPRD : 10927 | ||
| Vega : OTTHUMG00000158551 | ||
| Protein | UniProt: P49915 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GMPS | |
| BioGPS: 8833 | ||
| Pathway | NCI Pathway Interaction Database: GMPS | |
| KEGG: GMPS | ||
| REACTOME: GMPS | ||
| Pathway Commons: GMPS | ||
| Context | iHOP: GMPS | |
| ligand binding site mutation search in PubMed: GMPS | ||
| UCL Cancer Institute: GMPS | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for GMPS |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R337 | R337T | BLCA | 1 | K685,T689 | P687T | COAD | 1 | K685,T689 | P687S | COAD | 1 | E691 | W692L | LUAD | 1 | P441 | G442D | STAD | 1 | R337 | E335D | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for GMPS |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | R337 | R337T | -1.2737112 | R337 | E335D | -1.2355691 | K685 | P687S | -1.1255826 | T689 | P687S | -1.1255826 | K685 | P687T | -1.0143448 | T689 | P687T | -1.0143448 | E691 | W692L | -0.6886127 | P441 | G442D | -0.28248765 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for GMPS from PDB |
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| Differential gene expression and gene-gene network for GMPS |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for GMPS |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GMPS |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Nutraceutical | DB00142 | L-Glutamic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of GMPS go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | XMP | XANTHOSINE-5'-MONOPHOSPHATE | 2vxo | A | R337 P441 K685 T689 E691 | XMP | XANTHOSINE-5'-MONOPHOSPHATE | 2vxo | B | R337 P441 K685 T689 E691 |
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| Conservation information for LBS of GMPS |
| Multiple alignments for P49915 in multiple species |
| LBS | AA sequence | # species | Species | E691 | PPGTTEWE | 4 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus | F645 | FITSDFMTGVP | 2 | Mus musculus, Rattus norvegicus | F645 | FITSDFMTGIP | 1 | Homo sapiens | F645 | FVTSDFMTGQA | 1 | Caenorhabditis elegans | G383 | SLVASGKAELI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G383 | SALASGHADTI | 1 | Caenorhabditis elegans | G440 | RHPFPGPGLAI | 4 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus | K384 | LVASGKAELIK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K384 | ALASGHADTIK | 1 | Caenorhabditis elegans | K685 | YDLTSKPPGTT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K685 | LDMTCKPPGTT | 1 | Caenorhabditis elegans | P439 | SRHPFPGPGLA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P439 | QRHPFPGPGLA | 1 | Caenorhabditis elegans | P441 | HPFPGPGLAIR | 4 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus | Q610 | --KISQMPVIL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q610 | GHKIQQMPVVL | 1 | Caenorhabditis elegans | R337 | SPEEKRKIIGD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R337 | DPEMKRKIIGN | 1 | Caenorhabditis elegans | T689 | SKPPGTTEWE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T689 | CKPPGTTEWE | 1 | Caenorhabditis elegans | T690 | KPPGTTEWE | 4 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus |
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