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 8354
Gene summary
Basic gene Info.Gene symbol8354
Gene name
Synonyms
CytomapUCSC genome browser:
Type of gene
RefGenes
Description
Modification date
dbXrefs
ProteinUniProt: P68431
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_8354
BioGPS: 8354
PathwayNCI Pathway Interaction Database: 8354
KEGG: 8354
REACTOME: 8354
Pathway Commons: 8354
ContextiHOP: 8354
ligand binding site mutation search in PubMed: 8354
UCL Cancer Institute: 8354
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 8354

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 8354
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
R64R64S-1.3943589
R84L83M-1.3409055
D82L83M-1.3409055
L66L66P-1.3328941
D78F79C-1.135569
R117A115S-0.6174469
(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 8354 from PDB

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Differential gene expression and gene-gene network for 8354
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 8354 and the right PPI network was created from samples without mutations in the LBS of 8354. 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 8354
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 8354
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 8354 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of 8354
Multiple alignments for P68431 in multiple species
LBSAA sequence# speciesSpecies
A48RPGTVALREIR6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
D78REIAQDFKTDL5Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Oryza sativa subsp. japonica
D78REIAQDYKTDL1Arabidopsis thaliana
D82QDFKTDLRFQS5Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Oryza sativa subsp. japonica
D82QDYKTDLRFQS1Arabidopsis thaliana
F85KTDLRFQSSAV4Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster
F85KTDLRFQSHAV2Arabidopsis thaliana, Oryza sativa subsp. japonica
G45HRYRPGTVALR6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
H40GVKKPHRYRPG6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
K123VTIMPKDIQLA5Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Oryza sativa subsp. japonica
K123VTIMPKDVQLA1Arabidopsis thaliana
K38TGGVKKPHRYR6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
K57IRRYQKSTELL4Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster
K57IRKYQKSTELL2Arabidopsis thaliana, Oryza sativa subsp. japonica
K65ELLIRKLPFQR6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
L66LLIRKLPFQRL6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
M121KRVTIMPKDIQ5Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Oryza sativa subsp. japonica
M121KRVTIMPKDVQ1Arabidopsis thaliana
P44PHRYRPGTVAL6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
P67LIRKLPFQRLV6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
Q77VREIAQDFKTD5Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Oryza sativa subsp. japonica
Q77VREIAQDYKTD1Arabidopsis thaliana
Q86TDLRFQSSAVM4Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster
Q86TDLRFQSHAVL2Arabidopsis thaliana, Oryza sativa subsp. japonica
R117AIHAKRVTIMP6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
R41VKKPHRYRPGT6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
R43KPHRYRPGTVA6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
R50GTVALREIRRY4Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster
R50GTVALREIRKY2Arabidopsis thaliana, Oryza sativa subsp. japonica
R54LREIRRYQKST4Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster
R54LREIRKYQKST2Arabidopsis thaliana, Oryza sativa subsp. japonica
R64TELLIRKLPFQ6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
R70KLPFQRLVREI6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
R73FQRLVREIAQD6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
R84FKTDLRFQSSA4Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster
R84YKTDLRFQSHA1Arabidopsis thaliana
R84FKTDLRFQSHA1Oryza sativa subsp. japonica
S87DLRFQSSAVMA4Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster
S87DLRFQSHAVLA2Arabidopsis thaliana, Oryza sativa subsp. japonica
T119HAKRVTIMPKD6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
T46RYRPGTVALRE6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
V118IHAKRVTIMPK6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
V47YRPGTVALREI6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica
Y42KKPHRYRPGTV6Homo sapiens, Mus musculus, Danio rerio, Drosophila melanogaster, Arabidopsis thaliana, Oryza sativa subsp. japonica


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