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 693221
Gene summary
Basic gene Info.Gene symbol693221
Gene name
Synonyms
CytomapUCSC genome browser:
Type of gene
RefGenes
Description
Modification date
dbXrefs
ProteinUniProt: Q01130
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_693221
BioGPS: 693221
PathwayNCI Pathway Interaction Database: 693221
KEGG: 693221
REACTOME: 693221
Pathway Commons: 693221
ContextiHOP: 693221
ligand binding site mutation search in PubMed: 693221
UCL Cancer Institute: 693221
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 693221

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 693221
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
Y50T51I-0.61219961
(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 693221 from PDB

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Differential gene expression and gene-gene network for 693221
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 693221 and the right PPI network was created from samples without mutations in the LBS of 693221. 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 693221
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 693221
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 693221 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids2lebAY50


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Conservation information for LBS of 693221
Multiple alignments for Q01130 in multiple species
LBSAA sequence# speciesSpecies
A90LRVQMARYGRP6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
D42YGRVGDVYIPR6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
D48VYIPRDRYTKE6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
F57KESRGFAFVRF6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
F59SRGFAFVRFHD6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
G46Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
G56TKESRGFAFVR6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
G93QMARYGRPPDS6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
H99RPPDSHHSRRG6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
K17GMTSLKVDNLT6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
M16Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
M89ELRVQMARYGR6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
N20SLKVDNLTYRT6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
P46GDVYIPRDRYT6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
P6MSYGRPPPDVE6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
P95ARYGRPPDSHH6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
R49YIPRDRYTKES6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
R56Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
R61GFAFVRFHDKR6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
R91RVQMARYGRPP6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
R94MARYGRPPDSH6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
S98GRPPDSHHSRR6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
V43GRVGDVYIPRD6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
Y36Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
Y44RVGDVYIPRDR6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes
Y50IPRDRYTKESR6Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes


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