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 HIST1H2AB

Gene summary

Basic gene Info.	Gene symbol	HIST1H2AB
	Gene name	histone cluster 1, H2ab
	Synonyms	H2A/m\|H2AFM
	Cytomap	UCSC genome browser: 6p22.1
	Type of gene	protein-coding
	RefGenes	NM_003513.2,
	Description	H2A histone family, member Mhistone 1, H2abhistone H2A type 1-B/Ehistone H2A/m
	Modification date	20141207
dbXrefs	MIM : 602795
	HGNC : HGNC
	Ensembl : ENSG00000278463
	HPRD : 09105
	Vega : OTTHUMG00000014420
Protein	UniProt: P04908 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_HIST1H2AB
	BioGPS: 8335
Pathway	NCI Pathway Interaction Database: HIST1H2AB
	KEGG: HIST1H2AB
	REACTOME: HIST1H2AB
	Pathway Commons: HIST1H2AB
Context	iHOP: HIST1H2AB
	ligand binding site mutation search in PubMed: HIST1H2AB
	UCL Cancer Institute: HIST1H2AB
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

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Ligand binding site mutations for HIST1H2AB

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
R21	S20C	HNSC	1
R12	R12L	LUSC	1
R30	R30L	STAD	1
A15	A15V	UCEC	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 HIST1H2AB

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
R30	R30L	-0.59496873
R21	S20C	-0.50112669
R12	R12L	-0.49688993
A15	A15V	-0.375362

(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 HIST1H2AB from PDB

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Differential gene expression and gene-gene network for HIST1H2AB

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 HIST1H2AB and the right PPI network was created from samples without mutations in the LBS of HIST1H2AB. 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 HIST1H2AB

Gene level disease information (DisGeNet)

Disease ID

Disease name

# PubMed

Association type

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for HIST1H2AB

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.