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 HSPA1A

Gene summary

Basic gene Info.	Gene symbol	HSPA1A
	Gene name	heat shock 70kDa protein 1A
	Synonyms	HEL-S-103\|HSP70-1\|HSP70-1A\|HSP70I\|HSP72\|HSPA1
	Cytomap	UCSC genome browser: 6p21.3
	Type of gene	protein-coding
	RefGenes	NM_005345.5,
	Description	HSP70-1/HSP70-2HSP70.1/HSP70.2dnaK-type molecular chaperone HSP70-1epididymis secretory protein Li 103heat shock 70 kDa protein 1/2heat shock 70 kDa protein 1A/1Bheat shock 70kD protein 1Aheat shock-induced protein
	Modification date	20141222
dbXrefs	MIM : 140550
	HGNC : HGNC
	Ensembl : ENSG00000204389
	HPRD : 00774
	Vega : OTTHUMG00000031201
Protein	UniProt: P08107 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_HSPA1A
	BioGPS: 3303
Pathway	NCI Pathway Interaction Database: HSPA1A
	KEGG: HSPA1A
	REACTOME: HSPA1A
	Pathway Commons: HSPA1A
Context	iHOP: HSPA1A
	ligand binding site mutation search in PubMed: HSPA1A
	UCL Cancer Institute: HSPA1A
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:0006200	ATP catabolic process	21231916
GO:0006402	mRNA catabolic process	10205060
GO:0006986	response to unfolded protein	10859165
GO:0031397	negative regulation of protein ubiquitination	12150907
GO:0034605	cellular response to heat	24061851
GO:0042026	protein refolding	15603737
GO:0060548	negative regulation of cell death	12150907
GO:0090084	negative regulation of inclusion body assembly	15603737

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Ligand binding site mutations for HSPA1A

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
D10	D10N	BLCA	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 HSPA1A

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

(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 HSPA1A from PDB

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Differential gene expression and gene-gene network for HSPA1A

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 HSPA1A and the right PPI network was created from samples without mutations in the LBS of HSPA1A. 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 HSPA1A

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0030567	Parkinson Disease	2	GeneticVariation, Therapeutic
umls:C2609414	Acute Kidney Injury	2	Biomarker
umls:C0270611	Brain Injuries	1	Biomarker
umls:C0887833	Carcinoma, Pancreatic Ductal	1	Biomarker
umls:C0013182	Drug Hypersensitivity	1	Biomarker
umls:C0282507	Heat Stress Disorders	1	Therapeutic
umls:C0023895	Liver Diseases	1	Biomarker
umls:C0151744	Myocardial Ischemia	1	Biomarker
umls:C0033578	Prostatic Neoplasms	1	Biomarker