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 BMX
Gene summary
Basic gene Info.Gene symbolBMX
Gene nameBMX non-receptor tyrosine kinase
SynonymsETK|PSCTK2|PSCTK3
CytomapUCSC genome browser: Xp22.2
Type of geneprotein-coding
RefGenesNM_001721.6,
NM_203281.2,
DescriptionBTK-like on X chromosomeEtk/Bmx cytosolic tyrosine kinaseNTK38 tyrosine kinasebone marrow tyrosine kinase gene in chromosome X proteincytoplasmic tyrosine-protein kinase BMXepithelial and endothelial tyrosine kinase
Modification date20141207
dbXrefs MIM : 300101
HGNC : HGNC
Ensembl : ENSG00000102010
HPRD : 02111
Vega : OTTHUMG00000021180
ProteinUniProt: P51813
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BMX
BioGPS: 660
PathwayNCI Pathway Interaction Database: BMX
KEGG: BMX
REACTOME: BMX
Pathway Commons: BMX
ContextiHOP: BMX
ligand binding site mutation search in PubMed: BMX
UCL Cancer Institute: BMX
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0007165signal transduction10688651
GO:0046777protein autophosphorylation11331870


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Ligand binding site mutations for BMX
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
I487Y486HLUAD1
S425,L423G424ESKCM1
V473F475LUCEC1
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 BMX
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
I487Y486H-1.452002
V473F475L-1.3006838
S425G424E-0.35890352
L423G424E-0.35890352
(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 BMX from PDB

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Differential gene expression and gene-gene network for BMX
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 BMX and the right PPI network was created from samples without mutations in the LBS of BMX. 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 BMX
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 BMX
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

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of BMX go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
PP21-TERT-BUTYL-3-(4-CHLORO-PHENYL)-1H-PYRAZOLO[3,4-D]PYRIMIDIN-4-YLAMINE3sxsAL423 S425 I487
1N1DASATINIB3sxrAL423 V473 I487
1N1DASATINIB3sxrBL423 V473 I487


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Conservation information for LBS of BMX
Multiple alignments for P51813 in multiple species
LBSAA sequence# speciesSpecies


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