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 symbol	HIST1H2BK
	Gene name	histone cluster 1, H2bk
	Synonyms	H2B/S\|H2BFAiii\|H2BFT\|H2BK
	Cytomap	UCSC genome browser: 6p21.33
	Type of gene	protein-coding
	RefGenes	NM_080593.2,
	Description	H2B KH2B histone family, member THIRA-interacting protein 1histone 1, H2bkhistone H2B type 1-Khistone family member
	Modification date	20141217
dbXrefs	MIM : 615045
	HGNC : HGNC
	HPRD : 13658
Protein	UniProt: O60814 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_HIST1H2BK
	BioGPS: 85236
Pathway	NCI Pathway Interaction Database: HIST1H2BK
	KEGG: HIST1H2BK
	REACTOME: HIST1H2BK
	Pathway Commons: HIST1H2BK
Context	iHOP: HIST1H2BK
	ligand binding site mutation search in PubMed: HIST1H2BK
	UCL Cancer Institute: HIST1H2BK
Assigned class in mutLBSgeneDB	C: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

GO ID	GO Term	PubMed ID
GO:0002227	innate immune response in mucosa	12860195
GO:0019731	antibacterial humoral response	12860195
GO:0050830	defense response to Gram-positive bacterium	12860195

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Ligand binding site mutations for HIST1H2BK

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
S57	S57C	HNSC	1
E36	E36K	SKCM	1
R87	K86E	STAD	1
V40	V40I	STAD	1
G54	G54D	THCA	1

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.

LBS	AAchange of nsSNV	Relative stability change
V40	V40I	-0.99703808
E36	E36K	-0.92217044
G54	G54D	-0.67344163
S57	S57C	-0.49389515
R87	K86E	-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 ID	Disease name	# PubMed	Association type
umls:C1458155	Breast Neoplasms	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype 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.