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 102466755
Gene summary
Basic gene Info.Gene symbol102466755
Gene name
Synonyms
CytomapUCSC genome browser:
Type of gene
RefGenes
Description
Modification date
dbXrefs
ProteinUniProt: Q15654
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_102466755
BioGPS: 102466755
PathwayNCI Pathway Interaction Database: 102466755
KEGG: 102466755
REACTOME: 102466755
Pathway Commons: 102466755
ContextiHOP: 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 IDGO TermPubMed ID


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Ligand binding site mutations for 102466755

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 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.
LBSAAchange of nsSNVRelative stability change
H301V299A-1.7434258
C362C362S-1.3688933
H359Y358C-1.1560921
C339A340V-0.73015896
C310T309A-0.7186264
H359P360H-0.68855591
C279Q278R-0.67744487
C368R370C-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)
* Left PPI network was created from samples with mutations in the LBS of 102466755 and the right PPI network was created from samples without mutations in the LBS of 102466755. 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 102466755
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 102466755
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 102466755 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of 102466755
Multiple alignments for Q15654 in multiple species
LBSAA sequence# speciesSpecies
C279EYFGRCGGCGE2Mus musculus, Bos taurus
C279EYFGQCGGCGE1Homo sapiens
C282GRCGGCGEDVV2Mus musculus, Bos taurus
C282GQCGGCGEDVV1Homo sapiens
C304VFHVGCFVCST2Homo sapiens, Bos taurus
C304VFHIGCFVCST1Mus musculus
C307VGCFVCSTCRA2Homo sapiens, Bos taurus
C307IGCFVCSTCRA1Mus musculus
C310FVCSTCRAQLR3Homo sapiens, Mus musculus, Bos taurus
C328ERRAYCESCYV2Mus musculus, Bos taurus
C328ERRAYCEGCYV1Homo sapiens
C331AYCESCYVATL2Mus musculus, Bos taurus
C331AYCEGCYVATL1Homo sapiens
C339ATLEKCATCSQ1Homo sapiens
C339ATLEKCSTCSE1Mus musculus
C339ATLEKCSTCSQ1Bos taurus
C342EKCATCSQPIL1Homo sapiens
C342EKCSTCSEPIL1Mus musculus
C342EKCSTCSQPIL1Bos taurus
C362AYHPGCFTCVV3Homo sapiens, Mus musculus, Bos taurus
C365PGCFTCVVCHR3Homo sapiens, Mus musculus, Bos taurus
C368FTCVVCHRGLD3Homo sapiens, Mus musculus, Bos taurus
C387TSQIHCIEDFH3Homo sapiens, Mus musculus, Bos taurus
D390IHCIEDFHRKF3Homo sapiens, Mus musculus, Bos taurus
H301LDRVFHVGCFV2Homo sapiens, Bos taurus
H301LDRVFHIGCFV1Mus musculus
H359MGKAYHPGCFT3Homo sapiens, Mus musculus, Bos taurus


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