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mutLBSgeneDB |
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| Gene summary for 100652777 |
 Gene summary |
| Basic gene Info. | Gene symbol | 100652777 |
| Gene name | ||
| Synonyms | ||
| Cytomap | UCSC genome browser: | |
| Type of gene | ||
| RefGenes | ||
| Description | ||
| Modification date | ||
| dbXrefs | ||
| Protein | UniProt: O15496 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_100652777 | |
| BioGPS: 100652777 | ||
| Pathway | NCI Pathway Interaction Database: 100652777 | |
| KEGG: 100652777 | ||
| REACTOME: 100652777 | ||
| Pathway Commons: 100652777 | ||
| Context | iHOP: 100652777 | |
| ligand binding site mutation search in PubMed: 100652777 | ||
| UCL Cancer Institute: 100652777 | ||
| 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 100652777 |
| 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 100652777 |
| 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 | L140 | Q142K | -0.88458404 | I136 | Q134H | -0.45714113 |
| (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 100652777 from PDB |
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| Differential gene expression and gene-gene network for 100652777 |
| 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 100652777 |
| 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 100652777 |
| 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 100652777 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of 100652777 |
| Multiple alignments for O15496 in multiple species |
| LBS | AA sequence | # species | Species | A48 | GLLELAGTLDC | 2 | Mus musculus, Rattus norvegicus | A48 | GILELAGTVGC | 1 | Homo sapiens | C85 | AIDWCCHGHDC | 1 | Homo sapiens | C85 | AIDWCCYHHDC | 1 | Mus musculus | C85 | AIDWCCYYHDC | 1 | Rattus norvegicus | D89 | CCHGHDCCYTR | 1 | Homo sapiens | D89 | CCYHHDCCYSR | 1 | Mus musculus | D89 | CCYYHDCCYSQ | 1 | Rattus norvegicus | F68 | MNYGCYCGLGG | 2 | Mus musculus, Rattus norvegicus | F68 | MKYGCFCGLGG | 1 | Homo sapiens | G70 | YGCYCGLGGHG | 2 | Mus musculus, Rattus norvegicus | G70 | YGCFCGLGGHG | 1 | Homo sapiens | G72 | CYCGLGGHGEP | 2 | Mus musculus, Rattus norvegicus | G72 | CFCGLGGHGQP | 1 | Homo sapiens | H88 | WCCHGHDCCYT | 1 | Homo sapiens | H88 | WCCYHHDCCYS | 1 | Mus musculus | H88 | WCCYYHDCCYS | 1 | Rattus norvegicus | I136 | KCDQEIANCLA | 1 | Homo sapiens | I136 | RCDEELAYCLA | 1 | Mus musculus | I136 | RCDETLAYCLA | 1 | Rattus norvegicus | I44 | VYKRGLLELAG | 2 | Mus musculus, Rattus norvegicus | I44 | VHRRGILELAG | 1 | Homo sapiens | L140 | EIANCLAQTEY | 1 | Homo sapiens | L140 | ELAYCLAGTEY | 1 | Mus musculus | L140 | TLAYCLADTEY | 1 | Rattus norvegicus | L47 | RGLLELAGTLD | 2 | Mus musculus, Rattus norvegicus | L47 | RGILELAGTVG | 1 | Homo sapiens | L71 | GCYCGLGGHGE | 2 | Mus musculus, Rattus norvegicus | L71 | GCFCGLGGHGQ | 1 | Homo sapiens | M63 | SPMAYMNYGCY | 2 | Mus musculus, Rattus norvegicus | M63 | TPIAYMKYGCF | 1 | Homo sapiens | P59 | VGPRSPMAYMN | 2 | Mus musculus, Rattus norvegicus | P59 | VGPRTPIAYMK | 1 | Homo sapiens | Y62 | RSPMAYMNYGC | 2 | Mus musculus, Rattus norvegicus | Y62 | RTPIAYMKYGC | 1 | Homo sapiens |
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