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 BAZ2A
Gene summary
Basic gene Info.Gene symbolBAZ2A
Gene namebromodomain adjacent to zinc finger domain, 2A
SynonymsTIP5|WALp3
CytomapUCSC genome browser: 12q13.3
Type of geneprotein-coding
RefGenesNM_001300905.1,
NM_013449.3,
DescriptionTTF-I interacting peptide 5TTF-I-interacting protein 5bromodomain adjacent to zinc finger domain protein 2Atranscription termination factor I-interacting protein 5
Modification date20141207
dbXrefs MIM : 605682
HGNC : HGNC
Ensembl : ENSG00000076108
HPRD : 10417
Vega : OTTHUMG00000170332
ProteinUniProt: Q9UIF9
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BAZ2A
BioGPS: 11176
PathwayNCI Pathway Interaction Database: BAZ2A
KEGG: BAZ2A
REACTOME: BAZ2A
Pathway Commons: BAZ2A
ContextiHOP: BAZ2A
ligand binding site mutation search in PubMed: BAZ2A
UCL Cancer Institute: BAZ2A
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 BAZ2A
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
S1828V1827LBRCA1
D1688N1687DCOAD1
C1682R1683GSKCM1
C1682R1683QSTAD1
C1697,D1695G1696RUCEC1
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 BAZ2A
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
C1682R1683G-1.9230228
C1682R1683Q-1.7541677
S1828V1827L-0.96896196
D1688N1687D-0.68673412
C1697G1696R-0.68552999
D1695G1696R-0.68552999
(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 BAZ2A from PDB

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Differential gene expression and gene-gene network for BAZ2A
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 BAZ2A and the right PPI network was created from samples without mutations in the LBS of BAZ2A. 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 BAZ2A
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0033578Prostatic Neoplasms1Biomarker

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

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Pharmacological information for BAZ2A
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 BAZ2A go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)4q6fAC1682
ZNZINC(2+)4q6fBC1682
ZNZINC(2+)4q6fCC1682
ZNZINC(2+)4q6fDC1682
ZNZINC(2+)4qf2AC1682
ZNZINC(2+)4qf2BC1682
ZNZINC(2+)4qf2CC1682
ZNZINC(2+)4qf2DC1682
ZNZINC(2+)4q6fAC1697
ZNZINC(2+)4q6fBC1697
ZNZINC(2+)4q6fCC1697
ZNZINC(2+)4q6fDC1697
ZNZINC(2+)4qf2AC1697
ZNZINC(2+)4qf2BC1697
ZNZINC(2+)4qf2CC1697
ZNZINC(2+)4qf2DC1697
IIIPeptide ligand (ALA,ARG,THR,LYS)4q6fCD1688
IIIPeptide ligand (ALA,ARG,THR,LYS,GLN)4q6fAD1688 D1695
IIIPeptide ligand (ALA,ARG,THR,LYS,GLN)4q6fBD1688 D1695
IIIPeptide ligand (GLY,ALA,LYS,ARG,HIS,ARG,LYS,VAL,LEU)4qbmAS1828


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Conservation information for LBS of BAZ2A
Multiple alignments for Q9UIF9 in multiple species
LBSAA sequence# speciesSpecies


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