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mutLBSgeneDB |
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| Gene summary for 100505984 |
 Gene summary |
| Basic gene Info. | Gene symbol | 100505984 |
| Gene name | ||
| Synonyms | ||
| Cytomap | UCSC genome browser: | |
| Type of gene | ||
| RefGenes | ||
| Description | ||
| Modification date | ||
| dbXrefs | ||
| Protein | UniProt: P18564 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_100505984 | |
| BioGPS: 100505984 | ||
| Pathway | NCI Pathway Interaction Database: 100505984 | |
| KEGG: 100505984 | ||
| REACTOME: 100505984 | ||
| Pathway Commons: 100505984 | ||
| Context | iHOP: 100505984 | |
| ligand binding site mutation search in PubMed: 100505984 | ||
| UCL Cancer Institute: 100505984 | ||
| 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 100505984 |
| 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 100505984 |
| 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 | P196 | N195S | -1.3708835 | P196 | N195D | -1.2709414 | S144 | S144F | -1.1998156 | A234 | I232M | -0.98710681 | A143 | A143T | -0.76699283 | C197 | C197Y | -0.68045573 |
| (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 100505984 from PDB |
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| Differential gene expression and gene-gene network for 100505984 |
| 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 100505984 |
| 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 100505984 |
| 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 100505984 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 100505984 |
| Multiple alignments for P18564 in multiple species |
| LBS | AA sequence | # species | Species | A143 | LMDLSASMDDD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | A234 | NQKISANIDTP | 2 | Homo sapiens, Bos taurus | A234 | KQKISANIDTP | 2 | Mus musculus, Rattus norvegicus | C197 | EIANPCSSIPY | 2 | Homo sapiens, Bos taurus | C197 | EITNPCSSIPY | 2 | Mus musculus, Rattus norvegicus | D140 | LYYLMDLSASM | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D147 | SASMDDDLNTI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D148 | ASMDDDLNTIK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D237 | ISANIDTPEGG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D271 | LVFVSDADSHF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E179 | FGSFVEKPVSP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E179 | FGSFVEKPISP | 1 | Bos taurus | E240 | NIDTPEGGFDA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I200 | NPCSSIPYFCL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I236 | KISANIDTPEG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K355 | VGLLQKDSGNI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K355 | VGVLQKDSGNI | 1 | Bos taurus | M145 | DLSASMDDDLN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N235 | QKISANIDTPE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | P196 | EEIANPCSSIP | 2 | Homo sapiens, Bos taurus | P196 | EEITNPCSSIP | 2 | Mus musculus, Rattus norvegicus | P239 | ANIDTPEGGFD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S142 | YLMDLSASMDD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S144 | MDLSASMDDDL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T238 | SANIDTPEGGF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y202 | CSSIPYFCLPT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus |
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