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 HIST1H2BK
Gene summary
Basic gene Info.Gene symbolHIST1H2BK
Gene namehistone cluster 1, H2bk
SynonymsH2B/S|H2BFAiii|H2BFT|H2BK
CytomapUCSC genome browser: 6p21.33
Type of geneprotein-coding
RefGenesNM_080593.2,
DescriptionH2B KH2B histone family, member THIRA-interacting protein 1histone 1, H2bkhistone H2B type 1-Khistone family member
Modification date20141217
dbXrefs MIM : 615045
HGNC : HGNC
HPRD : 13658
ProteinUniProt: O60814
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HIST1H2BK
BioGPS: 85236
PathwayNCI Pathway Interaction Database: HIST1H2BK
KEGG: HIST1H2BK
REACTOME: HIST1H2BK
Pathway Commons: HIST1H2BK
ContextiHOP: HIST1H2BK
ligand binding site mutation search in PubMed: HIST1H2BK
UCL Cancer Institute: HIST1H2BK
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
GO:0002227innate immune response in mucosa12860195
GO:0019731antibacterial humoral response12860195
GO:0050830defense response to Gram-positive bacterium12860195


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Ligand binding site mutations for HIST1H2BK

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
S57S57CHNSC1
E36E36KSKCM1
R87K86ESTAD1
V40V40ISTAD1
G54G54DTHCA1
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 HIST1H2BK
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
V40V40I-0.99703808
E36E36K-0.92217044
G54G54D-0.67344163
S57S57C-0.49389515
R87K86E-0.45994196
(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 HIST1H2BK from PDB

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Differential gene expression and gene-gene network for HIST1H2BK
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 HIST1H2BK and the right PPI network was created from samples without mutations in the LBS of HIST1H2BK. 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 HIST1H2BK
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1458155Breast Neoplasms1Biomarker

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

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Pharmacological information for HIST1H2BK
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 HIST1H2BK go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of HIST1H2BK
Multiple alignments for O60814 in multiple species
LBSAA sequence# speciesSpecies


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