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 HSPA5

Gene summary

Basic gene Info.	Gene symbol	HSPA5
	Gene name	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
	Synonyms	BIP\|GRP78\|HEL-S-89n\|MIF2
	Cytomap	UCSC genome browser: 9q33.3
	Type of gene	protein-coding
	RefGenes	NM_005347.4,
	Description	78 kDa glucose-regulated proteinendoplasmic reticulum lumenal Ca(2+)-binding protein grp78epididymis secretory sperm binding protein Li 89nimmunoglobulin heavy chain-binding protein
	Modification date	20141222
dbXrefs	MIM : 138120
	HGNC : HGNC
	Ensembl : ENSG00000044574
	HPRD : 00682
	Vega : OTTHUMG00000020672
Protein	UniProt: P11021 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_HSPA5
	BioGPS: 3309
Pathway	NCI Pathway Interaction Database: HSPA5
	KEGG: HSPA5
	REACTOME: HSPA5
	Pathway Commons: HSPA5
Context	iHOP: HSPA5
	ligand binding site mutation search in PubMed: HSPA5
	UCL Cancer Institute: HSPA5
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:0042149	cellular response to glucose starvation	10085239

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Ligand binding site mutations for HSPA5

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
G363	L361H	LUAD	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 HSPA5

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
G363	L361H	-1.6075761

(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 HSPA5 from PDB

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Differential gene expression and gene-gene network for HSPA5

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 HSPA5 and the right PPI network was created from samples without mutations in the LBS of HSPA5. 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 HSPA5

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C2239176	Carcinoma, Hepatocellular	20	AlteredExpression, Biomarker, GeneticVariation
umls:C1846707	Spinocerebellar Ataxia 17	2	Biomarker
umls:C0279626	Esophageal Squamous Cell Carcinoma	1	Biomarker
umls:C0376545	Hematologic Neoplasms	1	Biomarker
umls:C0023473	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	1	Biomarker
umls:C0035228	Respiratory Hypersensitivity	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for HSPA5

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.

Gene-centered drug-gene interaction network

Drug information targeting mutLBSgene (Approved drugs only)

Drug status	DrugBank ID	Name	Type	Drug structure
Approved\|investigational	DB00025	Antihemophilic Factor (Recombinant)	Biotech
Approved\|vet_approved	DB00945	Acetylsalicylic acid	Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of HSPA5 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
ADP		ADP	3iuc	A	G363
ADP		ADP	3iuc	C	G363
ATP		ATP	3ldl	A	G363
ATP		ATP	3ldl	B	G363
ANP		AMP-PNP	3ldo	A	G363
ANP		AMP-PNP	3ldo	B	G363

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Conservation information for LBS of HSPA5

Multiple alignments for P11021 in multiple species

LBS	AA sequence	# species	Species
D257	HLGGEDFDQRV	8	Homo sapiens, Caenorhabditis elegans, Caenorhabditis elegans, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
D257	HLGGEDFDNRV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D257	HLGGEDFDQRI	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
D257	HLGGEDFDYKI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D257	HLGGEDFDYKL	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
D257	HLGGEDFDHRI	1	Arabidopsis thaliana
D257	HLGGEDFDHRV	1	Arabidopsis thaliana
D391	RGINPDEAVAY	8	Homo sapiens, Caenorhabditis elegans, Caenorhabditis elegans, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
D391	KGINPDEAVAY	3	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
D391	KGVNPDEAVAY	2	Arabidopsis thaliana, Arabidopsis thaliana
D391	KGINPDEAVAF	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
E293	LRREVEKAKRA	8	Homo sapiens, Caenorhabditis elegans, Caenorhabditis elegans, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
E293	LKREAEKAKRA	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
E293	LRRECERAKRA	2	Arabidopsis thaliana, Arabidopsis thaliana
E293	LKREVEKAKRT	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E293	LKREAEKAKRT	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
G226	LVFDLGGGTFD	10	Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Caenorhabditis elegans, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
G226	VVYDLGGGTFD	2	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
G226	IVYDLGGGTFD	2	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G227	VFDLGGGTFDV	10	Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Caenorhabditis elegans, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
G227	VYDLGGGTFDV	4	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923
G228	FDLGGGTFDVS	10	Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Caenorhabditis elegans, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
G228	YDLGGGTFDVS	4	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923
G255	DTHLGGEDFDQ	9	Homo sapiens, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Caenorhabditis elegans, Caenorhabditis elegans, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
G255	DTHLGGEDFDY	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
G255	DTHLGGEDFDH	2	Arabidopsis thaliana, Arabidopsis thaliana
G255	DTHLGGEDFDN	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G36	IGIDLGTTYSC	9	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923
G36	VGIDLGTTYSC	5	Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
G363	EIVLVGGSTRI	10	Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Caenorhabditis elegans, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
G363	DIVLVGGSTRI	4	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923
G364	IVLVGGSTRIP	14	Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.5
H252	TNGDTHLGGED	10	Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Caenorhabditis elegans, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
H252	TSGDTHLGGED	2	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H252	TAGDTHLGGED	2	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
I368	GGSTRIPKVQQ	6	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Caenorhabditis elegans, Drosophila melanogaster
I368	GGSTRIPKIQQ	5	Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
I368	GGSTRIPKVQE	2	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
I368	GGSTRIPKVQA	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
K296	EVEKAKRALSS	5	Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
K296	EAEKAKRALSS	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K296	ECERAKRALSS	2	Arabidopsis thaliana, Arabidopsis thaliana
K296	EVEKAKRALST	2	Caenorhabditis elegans, Caenorhabditis elegans
K296	EVEKAKRTLSS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K296	EAEKAKRTLSS	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
K296	EVEKAKRALSG	1	Drosophila melanogaster
R297	VEKAKRALSSQ	5	Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
R297	AEKAKRALSSQ	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R297	CERAKRALSSQ	2	Arabidopsis thaliana, Arabidopsis thaliana
R297	VEKAKRALSTQ	2	Caenorhabditis elegans, Caenorhabditis elegans
R297	VEKAKRTLSSQ	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R297	AEKAKRTLSSQ	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
R297	VEKAKRALSGS	1	Drosophila melanogaster
R367	VGGSTRIPKVQ	9	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923
R367	VGGSTRIPKIQ	5	Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
S300	AKRALSSQHQA	5	Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
S300	AKRALSSQMST	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S300	AKRALSSQHQV	2	Arabidopsis thaliana, Arabidopsis thaliana
S300	AKRALSTQHQT	2	Caenorhabditis elegans, Caenorhabditis elegans
S300	AKRTLSSQKSV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S300	AKRTLSSQMST	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
S300	AKRALSGSHQV	1	Drosophila melanogaster
S365	VLVGGSTRIPK	14	Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.5
T229	DLGGGTFDVSL	11	Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.5
T229	DLGGGTFDVSV	2	Arabidopsis thaliana, Arabidopsis thaliana
T229	DLGGGTFDVSM	1	Caenorhabditis elegans
T37	GIDLGTTYSCV	14	Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.5
T38	IDLGTTYSCVG	11	Homo sapiens, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Caenorhabditis elegans, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus n
T38	IDLGTTYSCVA	3	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Y39	DLGTTYSCVGV	11	Homo sapiens, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Caenorhabditis elegans, Drosophila melanogaster, Gallus gallus, Mus musculus, Rattus n
Y39	DLGTTYSCVAV	2	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y39	DLGTTYSCVAL	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)