mutLBSgeneDB |
Gene summary for 102466755 |
Gene summary |
Basic gene Info. | Gene symbol | 102466755 |
Gene name | ||
Synonyms | ||
Cytomap | UCSC genome browser: | |
Type of gene | ||
RefGenes | ||
Description | ||
Modification date | ||
dbXrefs | ||
Protein | UniProt: Q15654 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_102466755 | |
BioGPS: 102466755 | ||
Pathway | NCI Pathway Interaction Database: 102466755 | |
KEGG: 102466755 | ||
REACTOME: 102466755 | ||
Pathway Commons: 102466755 | ||
Context | iHOP: 102466755 | |
ligand binding site mutation search in PubMed: 102466755 | ||
UCL Cancer Institute: 102466755 | ||
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 102466755 |
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 102466755 |
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 | H301 | V299A | -1.7434258 | C362 | C362S | -1.3688933 | H359 | Y358C | -1.1560921 | C339 | A340V | -0.73015896 | C310 | T309A | -0.7186264 | H359 | P360H | -0.68855591 | C279 | Q278R | -0.67744487 | C368 | R370C | -0.25557267 |
(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 102466755 from PDB |
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Differential gene expression and gene-gene network for 102466755 |
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 102466755 |
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 102466755 |
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 102466755 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 102466755 |
Multiple alignments for Q15654 in multiple species |
LBS | AA sequence | # species | Species | C279 | EYFGRCGGCGE | 2 | Mus musculus, Bos taurus | C279 | EYFGQCGGCGE | 1 | Homo sapiens | C282 | GRCGGCGEDVV | 2 | Mus musculus, Bos taurus | C282 | GQCGGCGEDVV | 1 | Homo sapiens | C304 | VFHVGCFVCST | 2 | Homo sapiens, Bos taurus | C304 | VFHIGCFVCST | 1 | Mus musculus | C307 | VGCFVCSTCRA | 2 | Homo sapiens, Bos taurus | C307 | IGCFVCSTCRA | 1 | Mus musculus | C310 | FVCSTCRAQLR | 3 | Homo sapiens, Mus musculus, Bos taurus | C328 | ERRAYCESCYV | 2 | Mus musculus, Bos taurus | C328 | ERRAYCEGCYV | 1 | Homo sapiens | C331 | AYCESCYVATL | 2 | Mus musculus, Bos taurus | C331 | AYCEGCYVATL | 1 | Homo sapiens | C339 | ATLEKCATCSQ | 1 | Homo sapiens | C339 | ATLEKCSTCSE | 1 | Mus musculus | C339 | ATLEKCSTCSQ | 1 | Bos taurus | C342 | EKCATCSQPIL | 1 | Homo sapiens | C342 | EKCSTCSEPIL | 1 | Mus musculus | C342 | EKCSTCSQPIL | 1 | Bos taurus | C362 | AYHPGCFTCVV | 3 | Homo sapiens, Mus musculus, Bos taurus | C365 | PGCFTCVVCHR | 3 | Homo sapiens, Mus musculus, Bos taurus | C368 | FTCVVCHRGLD | 3 | Homo sapiens, Mus musculus, Bos taurus | C387 | TSQIHCIEDFH | 3 | Homo sapiens, Mus musculus, Bos taurus | D390 | IHCIEDFHRKF | 3 | Homo sapiens, Mus musculus, Bos taurus | H301 | LDRVFHVGCFV | 2 | Homo sapiens, Bos taurus | H301 | LDRVFHIGCFV | 1 | Mus musculus | H359 | MGKAYHPGCFT | 3 | Homo sapiens, Mus musculus, Bos taurus |
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