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 101930112
Gene summary
Basic gene Info.Gene symbol101930112
Gene name
Synonyms
CytomapUCSC genome browser:
Type of gene
RefGenes
Description
Modification date
dbXrefs
ProteinUniProt: Q9UQ90
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_101930112
BioGPS: 101930112
PathwayNCI Pathway Interaction Database: 101930112
KEGG: 101930112
REACTOME: 101930112
Pathway Commons: 101930112
ContextiHOP: 101930112
ligand binding site mutation search in PubMed: 101930112
UCL Cancer Institute: 101930112
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 101930112

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 101930112
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
A519A519T-1.0632215
A312G313R-0.6129193
(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 101930112 from PDB

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Differential gene expression and gene-gene network for 101930112
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 101930112 and the right PPI network was created from samples without mutations in the LBS of 101930112. 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 101930112
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 101930112
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 101930112 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ADPADP2qz4AA312 A519


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Conservation information for LBS of 101930112
Multiple alignments for Q9UQ90 in multiple species
LBSAA sequence# speciesSpecies
A312SFQDVAGMHEA2Mus musculus, Rattus norvegicus
A312SFKDVAGMHEA1Homo sapiens
A519PGFSGADIANI2Homo sapiens, Mus musculus
A519PGFS-------1Rattus norvegicus
C353LGPPGCGKTLL3Homo sapiens, Mus musculus, Rattus norvegicus
D310GVSFQDVAGMH2Mus musculus, Rattus norvegicus
D310GVSFKDVAGMH1Homo sapiens
G352LLGPPGCGKTL3Homo sapiens, Mus musculus, Rattus norvegicus
G354GPPGCGKTLLA3Homo sapiens, Mus musculus, Rattus norvegicus
G518TPGFSGADIAN2Homo sapiens, Mus musculus
G518TPGFS------1Rattus norvegicus
H492EIFEQHLKGLK2Mus musculus, Rattus norvegicus
H492EIFEQHLKSLK1Homo sapiens
K355PPGCGKTLLAK3Homo sapiens, Mus musculus, Rattus norvegicus
L357GCGKTLLAKAV3Homo sapiens, Mus musculus, Rattus norvegicus
P351LLLGPPGCGKT3Homo sapiens, Mus musculus, Rattus norvegicus
T356PGCGKTLLAKA3Homo sapiens, Mus musculus, Rattus norvegicus


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