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 100653247
Gene summary
Basic gene Info.Gene symbol100653247
Gene name
Synonyms
CytomapUCSC genome browser:
Type of gene
RefGenes
Description
Modification date
dbXrefs
ProteinUniProt: Q9NRW4
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_100653247
BioGPS: 100653247
PathwayNCI Pathway Interaction Database: 100653247
KEGG: 100653247
REACTOME: 100653247
Pathway Commons: 100653247
ContextiHOP: 100653247
ligand binding site mutation search in PubMed: 100653247
UCL Cancer Institute: 100653247
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 100653247

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 100653247
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
D57S58L0.43814693
D57A56V-0.73598359
G91G91W-0.68763427
R94R94M-0.51285894
R94V96M-0.30137163
(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 100653247 from PDB

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Differential gene expression and gene-gene network for 100653247
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 100653247 and the right PPI network was created from samples without mutations in the LBS of 100653247. 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 100653247
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 100653247
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 100653247 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
4NP4-NITROPHENYL PHOSPHATE(2-)4wohAD57 G91 R94


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Conservation information for LBS of 100653247
Multiple alignments for Q9NRW4 in multiple species
LBSAA sequence# speciesSpecies
A90LVHCLAGVSRS4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
D57CIPAADSPSQN1Homo sapiens
D57CIAAADSPTQN1Danio rerio
D57CIPASDSPSQN1Xenopus tropicalis
D57CIPAADTPSQN1Mus musculus
G91VHCLAGVSRSV4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
L89CLVHCLAGVSR4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
R94LAGVSRSVTLV4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
S93CLAGVSRSVTL4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
V92HCLAGVSRSVT4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus


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