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mutLBSgeneDB |
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| Gene summary for 101928269 |
 Gene summary |
| Basic gene Info. | Gene symbol | 101928269 |
| Gene name | ||
| Synonyms | ||
| Cytomap | UCSC genome browser: | |
| Type of gene | ||
| RefGenes | ||
| Description | ||
| Modification date | ||
| dbXrefs | ||
| Protein | UniProt: Q01196 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_101928269 | |
| BioGPS: 101928269 | ||
| Pathway | NCI Pathway Interaction Database: 101928269 | |
| KEGG: 101928269 | ||
| REACTOME: 101928269 | ||
| Pathway Commons: 101928269 | ||
| Context | iHOP: 101928269 | |
| ligand binding site mutation search in PubMed: 101928269 | ||
| UCL Cancer Institute: 101928269 | ||
| 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 101928269 |
| 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 101928269 |
| 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 | R139 | G138C | 0.12634159 | R135 | R135G | -1.7007809 | K167 | I166V | -1.6639722 | R135 | L134P | -1.6408111 | R135 | R135S | -1.5758945 | R174 | P173H | -1.5169345 | R135 | R135K | -1.4618043 | R139 | R139L | -0.6667116 | D171 | G172R | -0.52000296 | D171 | D171N | -0.50734738 | R174 | R174G | -0.49368446 | D171 | D171G | -0.44697345 | R135 | D133G | -0.42126794 | R174 | R174Q | -0.28844358 | R142 | G141R | -0.20636532 | R139 | G138S | -0.052340101 |
| (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 101928269 from PDB |
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| Differential gene expression and gene-gene network for 101928269 |
| 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 101928269 |
| 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 101928269 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of 101928269 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 1h9d | A | R135 R142 R174 | NUC | Nucleic Acids | 1h9d | C | R135 R142 R174 | NUC | Nucleic Acids | 1h9d | A | R139 R142 K167 D171 | NUC | Nucleic Acids | 1h9d | C | R139 R142 K167 D171 |
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| Conservation information for LBS of 101928269 |
| Multiple alignments for Q01196 in multiple species |
| LBS | AA sequence | # species | Species |
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