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 S100A7

Gene summary

Basic gene Info.	Gene symbol	S100A7
	Gene name	S100 calcium binding protein A7
	Synonyms	PSOR1\|S100A7c
	Cytomap	UCSC genome browser: 1q21
	Type of gene	protein-coding
	RefGenes	NM_002963.3,
	Description	S100 calcium-binding protein A7 (psoriasin 1)protein S100-A7psoriasin 1
	Modification date	20141207
dbXrefs	MIM : 600353
	HGNC : HGNC
	Ensembl : ENSG00000143556
	HPRD : 02645
	Vega : OTTHUMG00000013123
Protein	UniProt: P31151 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_S100A7
	BioGPS: 6278
Pathway	NCI Pathway Interaction Database: S100A7
	KEGG: S100A7
	REACTOME: S100A7
	Pathway Commons: S100A7
Context	iHOP: S100A7
	ligand binding site mutation search in PubMed: S100A7
	UCL Cancer Institute: S100A7
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:0000302	response to reactive oxygen species	16082188
GO:0010820	positive regulation of T cell chemotaxis	18606705
GO:0051238	sequestering of metal ion	15568027
GO:0070374	positive regulation of ERK1 and ERK2 cascade	18606705
GO:0071624	positive regulation of granulocyte chemotaxis	18606705
GO:0090026	positive regulation of monocyte chemotaxis	18606705

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Ligand binding site mutations for S100A7

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
D67	D67N	COAD	1
D67,K69	K68N	COAD	1
H91	G92R	SKCM	1
H91	G92V	SKCM	1
H18	H18N	SKCM	1
N65	N65H	STAD	1
H91	G92R	THCA	1
D63	D63Y	UCEC	1
D67,K69	K68N	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 S100A7

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
D67	D67N	-1.9337704
K69	K68N	-1.2633066
D67	K68N	-1.2633066
H18	H18N	-1.0724492
N65	N65H	-0.81213066
D63	D63Y	-0.7480611
H91	G92V	-0.35237343
H91	G92R	-0.34671282

(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 S100A7 from PDB

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Differential gene expression and gene-gene network for S100A7

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 S100A7 and the right PPI network was created from samples without mutations in the LBS of S100A7. 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 S100A7

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0033860	Psoriasis	11	Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for S100A7

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.