mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for 100616459
Gene summary
Basic gene Info.Gene symbol100616459
Gene name
Synonyms
CytomapUCSC genome browser:
Type of gene
RefGenes
Description
Modification date
dbXrefs
ProteinUniProt: P26599
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_100616459
BioGPS: 100616459
PathwayNCI Pathway Interaction Database: 100616459
KEGG: 100616459
REACTOME: 100616459
Pathway Commons: 100616459
ContextiHOP: 100616459
ligand binding site mutation search in PubMed: 100616459
UCL Cancer Institute: 100616459
Assigned class in mutLBSgeneDB

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for 100616459

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer 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 100616459
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.
LBSAAchange of nsSNVRelative stability change
L253R254H-1.3416917
R52R52G-1.2016857
R185V183M-1.1953637
L263S262N-1.12968
R523R523P-0.9649879
R418R418C-0.89647237
K368R366L-0.83858439
N376A377T-0.70295778
L378A377T-0.70295778
H457T455M-0.60240656
(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 100616459 from PDB

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Differential gene expression and gene-gene network for 100616459
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)
* Left PPI network was created from samples with mutations in the LBS of 100616459 and the right PPI network was created from samples without mutations in the LBS of 100616459. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for 100616459
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for 100616459
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of 100616459 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids2adcAH457 R523
NUCNucleic Acids2adcAK368 N376 L378 R418
IIIPeptide ligand (SER,GLU,GLY,LEU,LEU,GLY,LEU)3zzzBL253
NUCNucleic Acids2adbAR185 L263
NUCNucleic Acids2ad9AR52


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Conservation information for LBS of 100616459
Multiple alignments for P26599 in multiple species
LBSAA sequence# speciesSpecies


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