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 BMP2K
Gene summary
Basic gene Info.Gene symbolBMP2K
Gene nameBMP2 inducible kinase
SynonymsBIKE
CytomapUCSC genome browser: 4q21.21
Type of geneprotein-coding
RefGenesNM_017593.3,
NM_198892.1,
DescriptionBMP-2-inducible protein kinase
Modification date20141207
dbXrefs HGNC : HGNC
Ensembl : ENSG00000138756
HPRD : 09828
Vega : OTTHUMG00000160900
ProteinUniProt: Q9NSY1
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BMP2K
BioGPS: 55589
PathwayNCI Pathway Interaction Database: BMP2K
KEGG: BMP2K
REACTOME: BMP2K
Pathway Commons: BMP2K
ContextiHOP: BMP2K
ligand binding site mutation search in PubMed: BMP2K
UCL Cancer Institute: BMP2K
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


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Ligand binding site mutations for BMP2K
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
P334S332CBRCA1
N289R288SLUAD1
Y313Y313FUCEC1
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 BMP2K
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
P334S332C-0.65246132
N289R288S-0.64779021
Y313Y313F-0.60763204
(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 BMP2K from PDB

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Differential gene expression and gene-gene network for BMP2K
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 BMP2K and the right PPI network was created from samples without mutations in the LBS of BMP2K. 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 BMP2K
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 BMP2K
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 BMP2K go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
YDJ3-(CARBAMOYLAMINO)-5-(3-FLUOROPHENYL)-N-[(3S)-PIPERIDIN-3-YL]THIOPHENE-2-CARBOXAMIDE4w9wAN289 Y313 P334


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Conservation information for LBS of BMP2K
Multiple alignments for Q9NSY1 in multiple species
LBSAA sequence# speciesSpecies


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