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 100500832
Gene summary
Basic gene Info.Gene symbol100500832
Gene name
CytomapUCSC genome browser:
Type of gene
Modification date
ProteinUniProt: Q9BZX2
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_100500832
BioGPS: 100500832
PathwayNCI Pathway Interaction Database: 100500832
KEGG: 100500832
REACTOME: 100500832
Pathway Commons: 100500832
ContextiHOP: 100500832
ligand binding site mutation search in PubMed: 100500832
UCL Cancer Institute: 100500832
Assigned class in mutLBSgeneDB

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for 100500832

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.

Protein structure related information for 100500832
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
(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 100500832 from PDB

Differential gene expression and gene-gene network for 100500832
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 100500832 and the right PPI network was created from samples without mutations in the LBS of 100500832. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for 100500832
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for 100500832
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB02097CytidineSmall molecule
ExperimentalDB02431Cytidine-5'-TriphosphateSmall molecule
ExperimentalDB03403Cytidine-5'-MonophosphateSmall molecule
ExperimentalDB04005Uridine 5'-TriphosphateSmall molecule
Nutraceutical|vet_approvedDB04272Citric AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of 100500832 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
C5PCMP1uj2AH117 Q184
CTPCTP1udwAH117 R174 Q184
CTPCTP1udwBH117 R174 Q184
UTPUTP(4-)1ueiAH117 R174 Q184
UTPUTP(4-)1ueiBH117 R174 Q184
CTNCYTIDINE1uejAH117 R174 Q184
CTNCYTIDINE1uejBH117 R174 Q184
C5PCMP1uj2BH117 R174 Q184
C5PCMP1xrjAH117 R174 Q184
C5PCMP1xrjBH117 R174 Q184

Conservation information for LBS of 100500832
Multiple alignments for Q9BZX2 in multiple species
LBSAA sequence# speciesSpecies
A30VSGGTASGKSS3Homo sapiens, Xenopus tropicalis, Mus musculus
A30VAGGTASGKST1Drosophila melanogaster
A30VAGGTASGKSS1Danio rerio
D213IPRGADNLVAI3Homo sapiens, Danio rerio, Mus musculus
D213IPRGADNTVAI1Drosophila melanogaster
D213IPRGADNVVAI1Xenopus tropicalis
D62VILSQDSFYRV2Homo sapiens, Mus musculus
D62VSISQDSFYRE1Drosophila melanogaster
D62AILSQDSFYRV1Danio rerio
D62VMLSQDSFYRI1Xenopus tropicalis
D84GQFNFDHPDAF4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
D84GLFNFDHPDAF1Drosophila melanogaster
E135DVVLFEGILAF3Homo sapiens, Xenopus tropicalis, Mus musculus
E135DVVLFEGILVF1Drosophila melanogaster
E135DVVLFEGILMF1Danio rerio
F114IPVYDFVSHSR2Homo sapiens, Mus musculus
F114IPVYDFVTHSR2Danio rerio, Xenopus tropicalis
F114IPSYDYRTNSL1Drosophila melanogaster
F83KGQFNFDHPDA4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
F83KGLFNFDHPDA1Drosophila melanogaster
G32GGTASGKSSVC4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
G32GGTASGKSTVC1Drosophila melanogaster
H117YDFVSHSRK-E2Homo sapiens, Mus musculus
H117YDFVTHSRK-E2Danio rerio, Xenopus tropicalis
H117YDYRTNSLDFE1Drosophila melanogaster
I137VLFEGILAFYS2Homo sapiens, Mus musculus
I137VLFEGILVFYF1Drosophila melanogaster
I137VLFEGILMFYS1Danio rerio
I137VLFEGILAFYM1Xenopus tropicalis
K33GTASGKSSVCA2Homo sapiens, Mus musculus
K33GTASGKSTVCK1Drosophila melanogaster
K33GTASGKSSVCG1Danio rerio
K33GTASGKSSVCS1Xenopus tropicalis
Q184EQILSQYITFV2Homo sapiens, Mus musculus
Q184DAVLTQYMTFV1Drosophila melanogaster
Q184EQVLNQYITFV1Danio rerio
Q184EQVLTQYITFV1Xenopus tropicalis
R165DTRLSRRVLRD4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
R165DTRLARRVPRD1Drosophila melanogaster
R166TRLSRRVLRDI4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
R166TRLARRVPRDI1Drosophila melanogaster
R169SRRVLRDISER3Homo sapiens, Danio rerio, Mus musculus
R169ARRVPRDINER1Drosophila melanogaster
R169SRRVLRDINER1Xenopus tropicalis
R174RDISERGRDLE3Homo sapiens, Danio rerio, Mus musculus
R174RDINERGRDLD1Drosophila melanogaster
R174RDINERGRDLE1Xenopus tropicalis
R176ISERGRDLEQI2Homo sapiens, Mus musculus
R176INERGRDLDAV1Drosophila melanogaster
R176ISERGRDLEQV1Danio rerio
R176INERGRDLEQV1Xenopus tropicalis
S31SGGTASGKSSV3Homo sapiens, Xenopus tropicalis, Mus musculus
S31AGGTASGKSTV1Drosophila melanogaster
S31AGGTASGKSSV1Danio rerio
S34TASGKSSVCAK2Homo sapiens, Mus musculus
S34TASGKSTVCKK1Drosophila melanogaster
S34TASGKSSVCGK1Danio rerio
S34TASGKSSVCSK1Xenopus tropicalis
S35ASGKSSVCAKI2Homo sapiens, Mus musculus
S35ASGKSTVCKKI1Drosophila melanogaster
S35ASGKSSVCGKI1Danio rerio
S35ASGKSSVCSKI1Xenopus tropicalis
S60QVVILSQDSFY2Homo sapiens, Mus musculus
S60QVVSISQDSFY1Drosophila melanogaster
S60QVAILSQDSFY1Danio rerio
S60QVVMLSQDSFY1Xenopus tropicalis
T29GVSGGTASGKS3Homo sapiens, Xenopus tropicalis, Mus musculus
T29GVAGGTASGKS2Drosophila melanogaster, Danio rerio
V189QYITFVKPAFE4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
V189QYMTFVKPAFE1Drosophila melanogaster
Y112VQIPVYDFVSH2Homo sapiens, Mus musculus
Y112VQIPVYDFVTH2Danio rerio, Xenopus tropicalis
Y112VEIPSYDYRTN1Drosophila melanogaster
Y65SQDSFYRVLTS2Homo sapiens, Mus musculus
Y65SQDSFYRELTP1Drosophila melanogaster
Y65SQDSFYRVLTP1Danio rerio
Y65SQDSFYRILTP1Xenopus tropicalis

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