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 BST1
Gene summary
Basic gene Info.Gene symbolBST1
Gene namebone marrow stromal cell antigen 1
CytomapUCSC genome browser: 4p15
Type of geneprotein-coding
DescriptionADP-ribosyl cyclase 2ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2BST-1NAD(+) nucleosidasebone marrow stromal antigen 1cADPr hydrolase 2cyclic ADP-ribose hydrolase 2
Modification date20141222
dbXrefs MIM : 600387
Ensembl : ENSG00000109743
HPRD : 02665
Vega : OTTHUMG00000097739
ProteinUniProt: Q10588
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BST1
BioGPS: 683
PathwayNCI Pathway Interaction Database: BST1
Pathway Commons: BST1
ContextiHOP: BST1
ligand binding site mutation search in PubMed: BST1
UCL Cancer Institute: BST1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

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

Ligand binding site mutations for BST1
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
: non-synonymous mutation on LBS, Circle size denotes number of samples.

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 BST1
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 BST1 from PDB

Differential gene expression and gene-gene network for BST1
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 BST1 and the right PPI network was created from samples without mutations in the LBS of BST1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for BST1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0030567Parkinson Disease4Biomarker, GeneticVariation
umls:C0024115Lung Diseases1Biomarker

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

Pharmacological information for BST1
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
ExperimentalDB01660Adenosine-5'-Diphosphate MonothiophosphateSmall molecule
ExperimentalDB02483Etheno-NadSmall molecule
ApprovedDB02701NicotinamideSmall molecule
ExperimentalDB03227Nicotinamide MononucleotideSmall molecule
ExperimentalDB03732Etheno-NadpSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of BST1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of BST1
Multiple alignments for Q10588 in multiple species
LBSAA sequence# speciesSpecies
A138LYGKVGDFLSW2Mus musculus, Rattus norvegicus
A138LYGRVADFLSW1Homo sapiens
D139YGKVGDFLSWC2Mus musculus, Rattus norvegicus
D139YGRVADFLSWC1Homo sapiens
D169ENNPVDSFWKR1Homo sapiens
D169ENNAVDSYWKS1Mus musculus
D169ENNAVDAYWKS1Rattus norvegicus
E110KSLFWENNHLL2Mus musculus, Rattus norvegicus
E110KSLFWENSHLL1Homo sapiens
E210FFADFEIPYLQ2Mus musculus, Rattus norvegicus
E210FFADYEIPNLQ1Homo sapiens
E37ARWRGEGTSAH1Homo sapiens
E37ARWRGEGTTPH1Mus musculus
E37ARWSGEGTTPH1Rattus norvegicus
F108RDKSLFWENNH2Mus musculus, Rattus norvegicus
F108RDKSLFWENSH1Homo sapiens
F140GKVGDFLSWCR2Mus musculus, Rattus norvegicus
F140GRVADFLSWCR1Homo sapiens
F205YPIKGFFADYE1Homo sapiens
F205YPTRGFFADFE1Mus musculus
F205YPTKGFFADFE1Rattus norvegicus
F206PIKGFFADYEI1Homo sapiens
F206PTRGFFADFEI1Mus musculus
F206PTKGFFADFEI1Rattus norvegicus
H113FWENNHLLVMS2Mus musculus, Rattus norvegicus
H113FWENSHLLVNS1Homo sapiens
L129RRFMPLSDVLY1Homo sapiens
L129RRLVALCDVLY1Mus musculus
L129RRLMPLCDVLY1Rattus norvegicus
L141KVGDFLSWCRQ2Mus musculus, Rattus norvegicus
L141RVADFLSWCRQ1Homo sapiens
N111SLFWENNHLLV2Mus musculus, Rattus norvegicus
N111SLFWENSHLLV1Homo sapiens
S112LFWENNHLLVM2Mus musculus, Rattus norvegicus
S112LFWENSHLLVN1Homo sapiens
S130RFMPLSDVLYG1Homo sapiens
S130RLVALCDVLYG1Mus musculus
S130RLMPLCDVLYG1Rattus norvegicus
S176YWKSASMQYSR2Mus musculus, Rattus norvegicus
S176FWKRASIQYSK1Homo sapiens
V168CENNPVDSFWK1Homo sapiens
V168CENNAVDSYWK1Mus musculus
V168CENNAVDAYWK1Rattus norvegicus
W109DKSLFWENNHL2Mus musculus, Rattus norvegicus
W109DKSLFWENSHL1Homo sapiens
W143GDFLSWCRQEN2Mus musculus, Rattus norvegicus
W143ADFLSWCRQKN1Homo sapiens
W172PVDSFWKRASI1Homo sapiens
W172AVDSYWKSASM1Mus musculus
W172AVDAYWKSASM1Rattus norvegicus

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