mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 BAZ2B
Gene summary
Basic gene Info.Gene symbolBAZ2B
Gene namebromodomain adjacent to zinc finger domain, 2B
SynonymsWALp4
CytomapUCSC genome browser: 2q24.2
Type of geneprotein-coding
RefGenesNM_001289975.1,
NM_013450.3,NR_110586.1,
Descriptionbromodomain adjacent to zinc finger domain protein 2B
Modification date20141207
dbXrefs MIM : 605683
HGNC : HGNC
Ensembl : ENSG00000123636
Ensembl : ENSG00000226266
HPRD : 09295
Vega : OTTHUMG00000132027
ProteinUniProt: Q9UIF8
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BAZ2B
BioGPS: 29994
PathwayNCI Pathway Interaction Database: BAZ2B
KEGG: BAZ2B
REACTOME: BAZ2B
Pathway Commons: BAZ2B
ContextiHOP: BAZ2B
ligand binding site mutation search in PubMed: BAZ2B
UCL Cancer Institute: BAZ2B
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 BAZ2B
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
D2142,S2144D2143NBRCA1
C1949L1948ICOAD1
C1937R1938QLUAD1
C1949L1948FLUAD1
E2123F2125SSTAD1
H2151A2149VUCEC1
F2139F2139CUCEC1
C1960H1961RUCEC1
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 BAZ2B
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
H2151A2149V0.37888274
C1937R1938Q-1.9145547
C1949L1948F-1.2228617
C1949L1948I-1.0852826
F2139F2139C-1.0544498
S2144D2143N-0.79902346
D2142D2143N-0.79902346
E2123F2125S-0.77591624
C1960H1961R-0.29573449
(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 BAZ2B from PDB

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Differential gene expression and gene-gene network for BAZ2B
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 BAZ2B and the right PPI network was created from samples without mutations in the LBS of BAZ2B. 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 BAZ2B
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 BAZ2B
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.
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 BAZ2B go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)4qf3AC1937 C1960
ZNZINC(2+)4qf3BC1937 C1960
ZNZINC(2+)4qf3AC1949
ZNZINC(2+)4qf3BC1949
IIIPeptide ligand (GLY,LYS,GLY,LEU,GLY,LYS,GLY)4qc3AF2139
IIIPeptide ligand (GLY,GLY,LYS,ALA,PRO,ARG,LYS,GLN)4qc1AF2139 D2142 S2144
IIIPeptide ligand (THR,GLY,GLY,LYS,ALA,PRO,ARG,LYS,GLN)4qc1BF2139 D2142 S2144
ZNZINC(2+)4qc1AH2151
ZNZINC(2+)4qc1BH2151


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Conservation information for LBS of BAZ2B
Multiple alignments for Q9UIF8 in multiple species
LBSAA sequence# speciesSpecies


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