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mutLBSgeneDB |
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| Gene summary for 101928747 |
 Gene summary |
| Basic gene Info. | Gene symbol | 101928747 |
| Gene name | ||
| Synonyms | ||
| Cytomap | UCSC genome browser: | |
| Type of gene | ||
| RefGenes | ||
| Description | ||
| Modification date | ||
| dbXrefs | ||
| Protein | UniProt: P38159 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_101928747 | |
| BioGPS: 101928747 | ||
| Pathway | NCI Pathway Interaction Database: 101928747 | |
| KEGG: 101928747 | ||
| REACTOME: 101928747 | ||
| Pathway Commons: 101928747 | ||
| Context | iHOP: 101928747 | |
| ligand binding site mutation search in PubMed: 101928747 | ||
| UCL Cancer Institute: 101928747 | ||
| 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 101928747 |
| 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 101928747 |
| 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 | M40 | M40I | -1.1601826 | D5 | E3G | -0.801607 | D5 | D5Y | -0.66713807 | F51 | A52D | -0.57797673 | F53 | A52D | -0.57797673 | D5 | D5E | -0.5742258 | K9 | G8V | -0.024664764 |
| (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 101928747 from PDB |
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| Differential gene expression and gene-gene network for 101928747 |
| 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 101928747 |
| 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 101928747 |
| 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 101928747 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 2mb0 | B | D5 K9 M40 F51 F53 |
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| Conservation information for LBS of 101928747 |
| Multiple alignments for P38159 in multiple species |
| LBS | AA sequence | # species | Species | A78 | SLDGKAIKVEQ | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | A78 | PLDGKPIKVEQ | 1 | Danio rerio | D5 | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus | E82 | KAIKVEQATKP | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | E82 | KPIKVEQATKP | 1 | Danio rerio | F11 | RPGKLFIGGLN | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus | F51 | NKSRGFAFVTF | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | F51 | NKSRGFAFVTY | 1 | Danio rerio | F53 | SRGFAFVTFES | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | F53 | SRGFAFVTYEN | 1 | Danio rerio | F89 | ATKPSFE-SGR | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | F89 | ATKPQFETSGR | 1 | Danio rerio | G14 | KLFIGGLNTET | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus | I79 | LDGKAIKVEQA | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | I79 | LDGKPIKVEQA | 1 | Danio rerio | K80 | DGKAIKVEQAT | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | K80 | DGKPIKVEQAT | 1 | Danio rerio | K86 | VEQATKPSFE- | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | K86 | VEQATKPQFET | 1 | Danio rerio | K9 | ADRPGKLFIGG | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus | L38 | RIVEVLLMKDR | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | L38 | RISEVLLMKDR | 1 | Danio rerio | M40 | VEVLLMKDRET | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | M40 | SEVLLMKDRET | 1 | Danio rerio | P87 | EQATKPSFE-S | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | P87 | EQATKPQFETS | 1 | Danio rerio | Q83 | AIKVEQATKPS | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | Q83 | PIKVEQATKPQ | 1 | Danio rerio | R49 | ETNKSRGFAFV | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Pan troglodytes, Mus musculus | S88 | QATKPSFE-SG | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | S88 | QATKPQFETSG | 1 | Danio rerio | T85 | KVEQATKPSFE | 4 | Homo sapiens, Rattus norvegicus, Pan troglodytes, Mus musculus | T85 | KVEQATKPQFE | 1 | Danio rerio |
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