|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for 100616459 |
 Gene summary |
| Basic gene Info. | Gene symbol | 100616459 |
| Gene name | ||
| Synonyms | ||
| Cytomap | UCSC genome browser: | |
| Type of gene | ||
| RefGenes | ||
| Description | ||
| Modification date | ||
| dbXrefs | ||
| Protein | UniProt: P26599 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_100616459 | |
| BioGPS: 100616459 | ||
| Pathway | NCI Pathway Interaction Database: 100616459 | |
| KEGG: 100616459 | ||
| REACTOME: 100616459 | ||
| Pathway Commons: 100616459 | ||
| Context | iHOP: 100616459 | |
| ligand binding site mutation search in PubMed: 100616459 | ||
| UCL Cancer Institute: 100616459 | ||
| 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 100616459 |
| 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 100616459 |
| 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 | L253 | R254H | -1.3416917 | R52 | R52G | -1.2016857 | R185 | V183M | -1.1953637 | L263 | S262N | -1.12968 | R523 | R523P | -0.9649879 | R418 | R418C | -0.89647237 | K368 | R366L | -0.83858439 | N376 | A377T | -0.70295778 | L378 | A377T | -0.70295778 | H457 | T455M | -0.60240656 |
| (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 100616459 from PDB |
| Top |
| Differential gene expression and gene-gene network for 100616459 |
| 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 100616459 |
| 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 100616459 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of 100616459 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 2adc | A | H457 R523 | NUC | Nucleic Acids | 2adc | A | K368 N376 L378 R418 | III | Peptide ligand (SER,GLU,GLY,LEU,LEU,GLY,LEU) | 3zzz | B | L253 | NUC | Nucleic Acids | 2adb | A | R185 L263 | NUC | Nucleic Acids | 2ad9 | A | R52 |
| Top |
| Conservation information for LBS of 100616459 |
| Multiple alignments for P26599 in multiple species |
| LBS | AA sequence | # species | Species |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |