|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for 100500810 |
 Gene summary |
| Basic gene Info. | Gene symbol | 100500810 |
| Gene name | ||
| Synonyms | ||
| Cytomap | UCSC genome browser: | |
| Type of gene | ||
| RefGenes | ||
| Description | ||
| Modification date | ||
| dbXrefs | ||
| Protein | UniProt: P84077 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_100500810 | |
| BioGPS: 100500810 | ||
| Pathway | NCI Pathway Interaction Database: 100500810 | |
| KEGG: 100500810 | ||
| REACTOME: 100500810 | ||
| Pathway Commons: 100500810 | ||
| Context | iHOP: 100500810 | |
| ligand binding site mutation search in PubMed: 100500810 | ||
| UCL Cancer Institute: 100500810 | ||
| Assigned class in mutLBSgeneDB | ||
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
| Top |
| Ligand binding site mutations for 100500810 |
| 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. |
| Top |
| Protein structure related information for 100500810 |
| 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 |
 |
| 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 | W78 | R79H | -1.2266683 | D26 | L25M | -1.031326 | N126 | A125T | -0.90357411 |
| (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 100500810 from PDB |
| Top |
| Differential gene expression and gene-gene network for 100500810 |
| 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) |
| Top |
| Top |
| Phenotype information for 100500810 |
| 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 |
| Top |
| Pharmacological information for 100500810 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB02774 | 1,3-Propandiol | Small molecule |  |
| Experimental | DB04077 | Glycerol | Small molecule |  |
| Experimental | DB04121 | Guanosine-3'-Monophosphate-5'-Diphosphate | Small molecule |  |
| Experimental | DB04137 | Guanosine-5'-Triphosphate | Small molecule |  |
| Experimental | DB04315 | Guanosine-5'-Diphosphate | Small molecule |  |
| Experimental | DB07348 | 1,6,7,8,9,11A,12,13,14,14A-DECAHYDRO-1,13-DIHYDROXY-6-METHYL-4H-CYCLOPENT[F]OXACYCLOTRIDECIN-4-ONE | Small molecule |  |
| Experimental | DB08231 | MYRISTIC ACID | Small molecule |  |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of 100500810 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GDP | GUANOSINE-5'-DIPHOSPHATE | 1hur | A | D26 N126 | GTP | GTP | 4hmy | C | D26 N126 | GDP | GUANOSINE-5'-DIPHOSPHATE | 1hur | B | N126 | GDP | GUANOSINE-5'-DIPHOSPHATE | 1re0 | A | N126 | GDP | GUANOSINE-5'-DIPHOSPHATE | 1u81 | A | N126 | AFB | BREFELDIN A | 1re0 | A | W78 |
| Top |
| Conservation information for LBS of 100500810 |
| Multiple alignments for P84077 in multiple species |
| LBS | AA sequence | # species | Species | A160 | IQATCATSGDG | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | A27 | MVGLDAAGKTT | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | A28 | VGLDAAGKTTI | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | C159 | YIQATCATSGD | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | D129 | FANKQDLPNAM | 5 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | D129 | FANKQDLPQAM | 1 | Caenorhabditis elegans | D26 | LMVGLDAAGKT | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | D67 | SFTVWDVGGQD | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | E54 | IGFNVETVEYK | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | F51 | IPTIGFNVETV | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | G29 | GLDAAGKTTIL | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | G50 | TIPTIGFNVET | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | I46 | EIVTTIPTIGF | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | I74 | GGQDKIRPLWR | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | K127 | LVFANKQDLPN | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K127 | LVFANKQDLPQ | 1 | Caenorhabditis elegans | K127 | LIFANKQDLPN | 1 | Drosophila melanogaster | K30 | LDAAGKTTILY | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | L130 | ANKQDLPNAMN | 5 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | L130 | ANKQDLPQAMN | 1 | Caenorhabditis elegans | N126 | LLVFANKQDLP | 5 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus | N126 | LLIFANKQDLP | 1 | Drosophila melanogaster | N52 | PTIGFNVETVE | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | P47 | IVTTIPTIGFN | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | T161 | QATCATSGDGL | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | T31 | DAAGKTTILYK | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | T32 | AAGKTTILYKL | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | T45 | GEIVTTIPTIG | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | T48 | VTTIPTIGFNV | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | T64 | KNISFTVWDVG | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | V53 | TIGFNVETVEY | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | V65 | NISFTVWDVGG | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | W66 | ISFTVWDVGGQ | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | W78 | KIRPLWRHYFQ | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster | Y81 | PLWRHYFQNTQ | 6 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |