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 H2AFZ
Gene summary
Basic gene Info.Gene symbolH2AFZ
Gene nameH2A histone family, member Z
SynonymsH2A.Z-1|H2A.z|H2A/z|H2AZ
CytomapUCSC genome browser: 4q24
Type of geneprotein-coding
RefGenesNM_002106.3,
DescriptionH2AZ histonehistone H2A.Z
Modification date20141207
dbXrefs MIM : 142763
HGNC : HGNC
Ensembl : ENSG00000164032
HPRD : 00823
Vega : OTTHUMG00000131048
ProteinUniProt: P0C0S5
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_H2AFZ
BioGPS: 3015
PathwayNCI Pathway Interaction Database: H2AFZ
KEGG: H2AFZ
REACTOME: H2AFZ
Pathway Commons: H2AFZ
ContextiHOP: H2AFZ
ligand binding site mutation search in PubMed: H2AFZ
UCL Cancer Institute: H2AFZ
Assigned class in mutLBSgeneDBC: This gene just belongs to 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 H2AFZ

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R81R81CBRCA1
K38S39YCOAD1
H113H113RHNSC1
I105I105SUCEC1
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 H2AFZ
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
I105I105S-1.0669359
R81R81C-0.96924466
K38S39Y-0.78359909
H113H113R-0.42934744
(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 H2AFZ from PDB

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Differential gene expression and gene-gene network for H2AFZ
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 H2AFZ and the right PPI network was created from samples without mutations in the LBS of H2AFZ. 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 H2AFZ
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0017661Glomerulonephritis, IGA1Biomarker

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

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Pharmacological information for H2AFZ
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 H2AFZ go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of H2AFZ
Multiple alignments for P0C0S5 in multiple species
LBSAA sequence# speciesSpecies
A17KAKTKAVSRSQ4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
A17KDKKKPITRSS1Arabidopsis thaliana
A17KTKTKAVSRSQ1Gallus gallus
A17KAKATSITRSS1Xenopus tropicalis
A49HGRVGATAAVY6Homo sapiens, Arabidopsis thaliana, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
A49HGRVGGTAAVY1Xenopus tropicalis
D98GDEELDSLIKA5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
D98GDEELDTLIKG1Arabidopsis thaliana
D98GDEELDALIKA1Xenopus tropicalis
G31LQFPVGRIHRH5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
G31LQFPVGRVHRL1Arabidopsis thaliana
G31LQFPVGRIHRL1Xenopus tropicalis
G48SHGRVGATAAV5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
G48AHGRVGATAAV1Arabidopsis thaliana
G48SHGRVGGTAAV1Xenopus tropicalis
H113GGVIPHIHKSL7Homo sapiens, Arabidopsis thaliana, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis
H115VIPHIHKSLIG6Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis
H115VIPHIHKSLIN1Arabidopsis thaliana
I101ELDSLIKATIA5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
I101ELDTLIKGTIA1Arabidopsis thaliana
I101ELDALIKATIA1Xenopus tropicalis
I105LIKATIAGGGV6Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis
I105LIKGTIAGGGV1Arabidopsis thaliana
I114GVIPHIHKSLI7Homo sapiens, Arabidopsis thaliana, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis
I91HLQLAIRGDEE7Homo sapiens, Arabidopsis thaliana, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis
K102LDSLIKATIAG5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
K102LDTLIKGTIAG1Arabidopsis thaliana
K102LDALIKATIAG1Xenopus tropicalis
K38IHRHLKSRTTS5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
K38VHRLLKTRSTA1Arabidopsis thaliana
K38IHRLLKNRTTS1Xenopus tropicalis
K80KDLKVKRITPR5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
K80KDLKVKRISPR2Arabidopsis thaliana, Xenopus tropicalis
L87ITPRHLQLAIR5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
L87ISPRHLQLAIR2Arabidopsis thaliana, Xenopus tropicalis
P84VKRITPRHLQL5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
P84VKRISPRHLQL2Arabidopsis thaliana, Xenopus tropicalis
Q88TPRHLQLAIRG5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
Q88SPRHLQLAIRG2Arabidopsis thaliana, Xenopus tropicalis
R20TKAVSRSQRAG5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
R20KKPITRSSRAG1Arabidopsis thaliana
R20ATSITRSSRAG1Xenopus tropicalis
R32QFPVGRIHRHL5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
R32QFPVGRVHRLL1Arabidopsis thaliana
R32QFPVGRIHRLL1Xenopus tropicalis
R35VGRIHRHLKSR5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
R35VGRVHRLLKTR1Arabidopsis thaliana
R35VGRIHRLLKNR1Xenopus tropicalis
R46TTSHGRVGATA5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
R46STAHGRVGATA1Arabidopsis thaliana
R46TTSHGRVGGTA1Xenopus tropicalis
R81DLKVKRITPRH5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
R81DLKVKRISPRH2Arabidopsis thaliana, Xenopus tropicalis
R85KRITPRHLQLA5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
R85KRISPRHLQLA2Arabidopsis thaliana, Xenopus tropicalis
R92LQLAIRGDEEL7Homo sapiens, Arabidopsis thaliana, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis
S19KTKAVSRSQRA5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
S19KKKPITRSSRA1Arabidopsis thaliana
S19KATSITRSSRA1Xenopus tropicalis
T104SLIKATIAGGG5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
T104TLIKGTIAGGG1Arabidopsis thaliana
T104ALIKATIAGGG1Xenopus tropicalis
T83KVKRITPRHLQ5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
T83KVKRISPRHLQ2Arabidopsis thaliana, Xenopus tropicalis
V18AKTKAVSRSQR4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
V18DKKKPITRSSR1Arabidopsis thaliana
V18TKTKAVSRSQR1Gallus gallus
V18AKATSITRSSR1Xenopus tropicalis
V47TSHGRVGATAA5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
V47TAHGRVGATAA1Arabidopsis thaliana
V47TSHGRVGGTAA1Xenopus tropicalis
V79SKDLKVKRITP5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Gallus gallus
V79SKDLKVKRISP2Arabidopsis thaliana, Xenopus tropicalis


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