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 LSS
Gene summary
Basic gene Info.Gene symbolLSS
Gene namelanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
CytomapUCSC genome browser: 21q22.3
Type of geneprotein-coding
Description2,3-epoxysqualene--lanosterol cyclase2,3-epoxysqualene-lanosterol cyclasehOSClanosterol synthaseoxidosqualene--lanosterol cyclase
Modification date20141207
dbXrefs MIM : 600909
Ensembl : ENSG00000160285
HPRD : 02945
Vega : OTTHUMG00000090633
ProteinUniProt: P48449
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_LSS
BioGPS: 4047
PathwayNCI Pathway Interaction Database: LSS
Pathway Commons: LSS
ContextiHOP: LSS
ligand binding site mutation search in PubMed: LSS
UCL Cancer Institute: LSS
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

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

Ligand binding site mutations for LSS

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 LSS
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 LSS from PDB

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


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

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

Pharmacological information for LSS
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB02016R048-8071Small molecule
ExperimentalDB03696LanosterolSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of LSS go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of LSS
Multiple alignments for P48449 in multiple species
LBSAA sequence# speciesSpecies
C233TLWCHCRQVYL3Homo sapiens, Mus musculus, Rattus norvegicus
C233RMWCHCRMVYL2Arabidopsis thaliana, Oryza sativa subsp. japonica
C233TIWCHCRQVYL1Bos taurus
C233RWWVHTRGVYI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C233KWWCHVRLVYL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C456WIVADCTAEAL2Bos taurus, Rattus norvegicus
C456WPISDCTAEGL2Arabidopsis thaliana, Oryza sativa subsp. japonica
C456WIVSDCTAEAL1Homo sapiens
C456WIVADCTAEGL1Mus musculus
C456YTVADCTAEAI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C456YTVSDTTSEAL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C533YTYVECTSAVM4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
C533YPYVECTSAAI2Arabidopsis thaliana, Oryza sativa subsp. japonica
C533YPYVECTDSSV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C533YSYPECTTSVI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D455GWIVADCTAEA2Bos taurus, Rattus norvegicus
D455GWPISDCTAEG2Arabidopsis thaliana, Oryza sativa subsp. japonica
D455GWIVSDCTAEA1Homo sapiens
D455GWIVADCTAEG1Mus musculus
D455GYTVADCTAEA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D455GYTVSDTTSEA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F444KGGFSFSTLDC3Homo sapiens, Bos taurus, Mus musculus
F444KGAWPFSTADH2Arabidopsis thaliana, Oryza sativa subsp. japonica
F444KGGFPFSTLDC1Rattus norvegicus
F444KGAWGFSTKTQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F444LGAWPFSNITQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F696NISGVFNKSCA3Bos taurus, Mus musculus, Rattus norvegicus
F696NIAGVFNKSCA1Homo sapiens
F696EIMGVFNRNCM1Arabidopsis thaliana
F696EIIGVFNKNCM1Oryza sativa subsp. japonica
F696SVEGVFNHSCA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F696SMEGIFNKNVA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G380GMKMQGTNGSQ4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
G380GMKMQGYNGSQ2Arabidopsis thaliana, Oryza sativa subsp. japonica
G380GMTIMGTNGVQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G380GMLMRGTNGLQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H232STLWCHCRQVY3Homo sapiens, Mus musculus, Rattus norvegicus
H232GRMWCHCRMVY2Arabidopsis thaliana, Oryza sativa subsp. japonica
H232STIWCHCRQVY1Bos taurus
H232GRWWVHTRGVY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H232GKWWCHVRLVY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I338ISIGPISKTIN3Homo sapiens, Bos taurus, Mus musculus
I338ICIGPVNKVLN2Arabidopsis thaliana, Oryza sativa subsp. japonica
I338ISIGPISKTVN1Rattus norvegicus
I338LCIAPVNQAFC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I338SCIGPVNAAMN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I524EVFGDIMIDYT4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
I524ETFGDIVIDYP2Arabidopsis thaliana, Oryza sativa subsp. japonica
I524EVFGNIMVEYP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I524EVFGNIMVEYS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N697ISGVFNKSCAI3Bos taurus, Mus musculus, Rattus norvegicus
N697IAGVFNKSCAI1Homo sapiens
N697IMGVFNRNCMI1Arabidopsis thaliana
N697IIGVFNKNCMI1Oryza sativa subsp. japonica
N697VEGVFNHSCAI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N697MEGIFNKNVAI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T381MKMQGTNGSQI3Homo sapiens, Bos taurus, Mus musculus
T381MKMQGYNGSQL2Arabidopsis thaliana, Oryza sativa subsp. japonica
T381MKMQGTNGSQT1Rattus norvegicus
T381MTIMGTNGVQT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T381MLMRGTNGLQV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T502DGGFATYETKR3Homo sapiens, Bos taurus, Rattus norvegicus
T502DGGFATYEKKR1Mus musculus
T502DGGLATYELTR1Arabidopsis thaliana
T502NGGFATYELTR1Oryza sativa subsp. japonica
T502YGSFATYEKIK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T502NLGFASYEPAR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V236CHCRQVYLPMS3Homo sapiens, Mus musculus, Rattus norvegicus
V236CHCRQVYLPMA1Bos taurus
V236CHCRMVYLPMS1Arabidopsis thaliana
V236CHCRMVYLPMC1Oryza sativa subsp. japonica
V236VHTRGVYIPVS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V236CHVRLVYLPMG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W192VAIPSWGKFWL3Homo sapiens, Mus musculus, Rattus norvegicus
W192VFIPSWGKFWL1Bos taurus
W192TNITSWGKMWL1Arabidopsis thaliana
W192TYITSWGKFWL1Oryza sativa subsp. japonica
W192IGSPHWGKIWL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W192IGCPHWGKFWL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W230HPSTLWCHCRQ3Homo sapiens, Mus musculus, Rattus norvegicus
W230HPGRMWCHCRM2Arabidopsis thaliana, Oryza sativa subsp. japonica
W230HPSTIWCHCRQ1Bos taurus
W230HPGRWWVHTRG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W230HPGKWWCHVRL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W387NGSQIWDTAFA2Homo sapiens, Bos taurus
W387NGSQIWDTSFA1Mus musculus
W387NGSQTWDTSFA1Rattus norvegicus
W387NGSQLWDTGFA1Arabidopsis thaliana
W387NGSQLWDTAFT1Oryza sativa subsp. japonica
W387NGVQTWDCAFA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W387NGLQVWETSFT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W581SWEGSWGVCFT4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
W581SWYGSWAVCFT2Arabidopsis thaliana, Oryza sativa subsp. japonica
W581SWYGSWGICFT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W581SWYGSWAICFT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y503GGFATYETKRG3Homo sapiens, Bos taurus, Rattus norvegicus
Y503GGFATYEKKRG1Mus musculus
Y503GGLATYELTRS1Arabidopsis thaliana
Y503GGFATYELTRS1Oryza sativa subsp. japonica
Y503GSFATYEKIKA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y503LGFASYEPART1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y704SCAISYTSYRN3Homo sapiens, Bos taurus, Mus musculus
Y704SCAISYTNYRN1Rattus norvegicus
Y704NCMITYAAYRN1Arabidopsis thaliana
Y704NCMISYSEYRN1Oryza sativa subsp. japonica
Y704SCAIEYPSYRF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y704NVAIAYPNYKL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y98HWAGDYGGPLF3Bos taurus, Mus musculus, Rattus norvegicus
Y98HWPGDYGGPMF2Arabidopsis thaliana, Oryza sativa subsp. japonica
Y98HWTGDYGGPLF1Homo sapiens
Y98IFPCQYKGPMF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y98HWASPYEGPMF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)

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