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mutLBSgeneDB |
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| Gene summary for 85390 |
 Gene summary |
| Basic gene Info. | Gene symbol | 85390 |
| Gene name | ||
| Synonyms | ||
| Cytomap | UCSC genome browser: | |
| Type of gene | ||
| RefGenes | ||
| Description | ||
| Modification date | ||
| dbXrefs | ||
| Protein | UniProt: P11142 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_85390 | |
| BioGPS: 85390 | ||
| Pathway | NCI Pathway Interaction Database: 85390 | |
| KEGG: 85390 | ||
| REACTOME: 85390 | ||
| Pathway Commons: 85390 | ||
| Context | iHOP: 85390 | |
| ligand binding site mutation search in PubMed: 85390 | ||
| UCL Cancer Institute: 85390 | ||
| Assigned class in mutLBSgeneDB | ||
| 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 85390 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples |
| 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 85390 |
| 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 | G230 | E231A | -1.4331387 | G201 | D199N | -1.3826663 | T37 | R36G | -0.91636719 | G202 | G203D | -0.72516321 | T204 | G203D | -0.72516321 | T204 | D206Y | -0.70937468 | R342 | R342P | -0.60494059 | G230 | D232E | -0.30936691 | R272 | T273I | -0.23232534 |
| (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 85390 from PDB |
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| Differential gene expression and gene-gene network for 85390 |
| 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 85390 |
| 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 85390 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB07045 | (2R,3R,4S,5R)-2-[6-amino-8-[(3,4-dichlorophenyl)methylamino]purin-9-yl]-5-(hydroxymethyl)oxolane-3,4-diol | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of 85390 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 3BH | 8-AMINOADENOSINE | 3fzh | A | G201 G202 G230 R272 R342 | 3BK | 8-[(3,4-DICHLOROBENZYL)AMINO]ADENOSINE | 3fzk | A | G201 G202 G230 R272 R342 | 3P1 | 8-[(QUINOLIN-2-YLMETHYL)AMINO]ADENOSINE | 3ldq | A | G201 G202 G230 R272 R342 | 3F5 | ADENOSINE-DERIVED INHIBITOR (GRP78) | 3m3z | A | G201 G202 G230 R272 R342 | ADP | ADP | 4h5t | A | G201 G202 G230 R272 R342 | ATP | ATP | 3fzf | A | G201 G202 T204 G230 R272 R342 | GOL | GLYCEROL | 4h5r | A | T204 | GOL | GLYCEROL | 4h5r | B | T204 | 3GO | 5'-O-(4-CYANOBENZYL)-8-[(QUINOLIN-6-YLMETHYL)AMINO]ADENOSINE | 3fzm | A | T37 G201 G202 G230 R272 R342 | 3FD | 4-[[(2R,3S,4R,5R)-5-[6-AMINO-8-[(3,4-DICHLOROPHENYL)METHYLAMINO]PURIN-9-YL]-3,4-DIHYDROXY-OXOLAN-2-YL]METHOXYMETHYL]BENZONITRILE | 3fzl | A | T37 G202 R272 R342 |
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| Conservation information for LBS of 85390 |
| Multiple alignments for P11142 in multiple species |
| LBS | AA sequence | # species | Species | D366 | KSINPDEAVAY | 8 | Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | E268 | LRTACERAKRT | 8 | Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | F150 | TVPAYFNDSQR | 8 | Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | G201 | LIFDLGGGTFD | 8 | Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | G202 | IFDLGGGTFDV | 8 | Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | G230 | DTHLGGEDFDN | 8 | Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | G338 | DIVLVGGSTRI | 7 | Homo sapiens, Drosophila melanogaster, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | G338 | DVVLVGGSTRI | 1 | Arabidopsis thaliana | G339 | IVLVGGSTRIP | 7 | Homo sapiens, Drosophila melanogaster, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | G339 | VVLVGGSTRIP | 1 | Arabidopsis thaliana | I343 | GGSTRIPKIQK | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | I343 | GGSTRIPKVQQ | 1 | Arabidopsis thaliana | I343 | GGSTRIPKVQR | 1 | Drosophila melanogaster | I343 | GGSTRIPKVQK | 1 | Caenorhabditis elegans | K271 | ACERAKRTLSS | 8 | Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | K71 | TVFDAKRLIGR | 7 | Homo sapiens, Arabidopsis thaliana, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | K71 | TIFDAKRLIGR | 1 | Drosophila melanogaster | Q154 | YFNDSQRQATK | 7 | Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus | Q154 | YFNDSQRQGTK | 1 | Gallus gallus | R272 | CERAKRTLSSS | 7 | Homo sapiens, Drosophila melanogaster, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | R272 | CERAKRTLSST | 1 | Arabidopsis thaliana | R342 | VGGSTRIPKIQ | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | R342 | VGGSTRIPKVQ | 3 | Arabidopsis thaliana, Drosophila melanogaster, Caenorhabditis elegans | R72 | VFDAKRLIGRR | 6 | Homo sapiens, Arabidopsis thaliana, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | R72 | IFDAKRLIGRR | 1 | Drosophila melanogaster | R72 | VFDAKRLIGRK | 1 | Caenorhabditis elegans | R76 | KRLIGRRFDDA | 5 | Homo sapiens, Drosophila melanogaster, Bos taurus, Mus musculus, Rattus norvegicus | R76 | KRLIGRRFTDS | 1 | Arabidopsis thaliana | R76 | KRLIGRKFDDP | 1 | Caenorhabditis elegans | R76 | KRLIGRRFDDS | 1 | Gallus gallus | S275 | AKRTLSSSTQA | 6 | Homo sapiens, Drosophila melanogaster, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | S275 | AKRTLSSTAQT | 1 | Arabidopsis thaliana | S275 | AKRTLSSSSQA | 1 | Caenorhabditis elegans | S340 | VLVGGSTRIPK | 8 | Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | T13 | GIDLGTTYSCV | 8 | Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | T14 | IDLGTTYSCVG | 8 | Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | T204 | DLGGGTFDVSI | 6 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | T204 | DLGGGTFDVSL | 1 | Arabidopsis thaliana | T204 | DLGGGTFDVSV | 1 | Drosophila melanogaster | T226 | STAGDTHLGGE | 6 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | T226 | ATAGDTHLGGE | 2 | Arabidopsis thaliana, Drosophila melanogaster | T37 | DQGNRTTPSYV | 8 | Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | Y149 | VTVPAYFNDSQ | 8 | Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | Y15 | DLGTTYSCVGV | 8 | Homo sapiens, Arabidopsis thaliana, Drosophila melanogaster, Caenorhabditis elegans, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus |
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