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 FST

Gene summary

Basic gene Info.	Gene symbol	FST
	Gene name	follistatin
	Synonyms	FS
	Cytomap	UCSC genome browser: 5q11.2
	Type of gene	protein-coding
	RefGenes	NM_006350.3, NM_013409.2,
	Description	activin-binding proteinfollistatin isoform FST317
	Modification date	20141215
dbXrefs	MIM : 136470
	HGNC : HGNC
	Ensembl : ENSG00000134363
	HPRD : 00641
	Vega : OTTHUMG00000131183
Protein	UniProt: P19883 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_FST
	BioGPS: 10468
Pathway	NCI Pathway Interaction Database: FST
	KEGG: FST
	REACTOME: FST
	Pathway Commons: FST
Context	iHOP: FST
	ligand binding site mutation search in PubMed: FST
	UCL Cancer Institute: FST
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:0000122	negative regulation of transcription from RNA polymerase II promoter	12702211
GO:0002244	hematopoietic progenitor cell differentiation	15451575
GO:0032926	negative regulation of activin receptor signaling pathway	11948405
GO:0051798	positive regulation of hair follicle development	12514121

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Ligand binding site mutations for FST

Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)

: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
S230	G232E	COAD	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 FST

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
S230	G232E	-0.59339075

(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 FST from PDB

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Differential gene expression and gene-gene network for FST

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

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0032460	Polycystic Ovary Syndrome	10	Biomarker, GeneticVariation
umls:C2239176	Carcinoma, Hepatocellular	3	Biomarker
umls:C0023903	Liver Neoplasms	2	Biomarker
umls:C1458155	Breast Neoplasms	2	Biomarker
umls:C0000786	Abortion, Spontaneous	1	Biomarker
umls:C0162557	Liver Failure, Acute	1	Biomarker
umls:C0038356	Stomach 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 FST

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
Experimental	DB01666	D-Myo-Inositol-Hexasulphate	Small molecule

Gene-centered ligand-gene interaction network

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

Ligand ID

Ligand short name

Ligand long name

PDB ID

PDB name

mutLBS

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Conservation information for LBS of FST

Multiple alignments for P19883 in multiple species

LBS	AA sequence	# species	Species
E294	ATYASECAMKE	4	Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus
E294	TTYPSECAMKQ	1	Danio rerio
E294	TTYPSECAMKE	1	Gallus gallus
E309	SGVLLEVKHSG	4	Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus
E309	LGVLLEVKHSG	1	Danio rerio
E309	MGVLLEVKHSG	1	Gallus gallus
L307	CSSGVLLEVKH	4	Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus
L307	CSLGVLLEVKH	1	Danio rerio
L307	CSMGVLLEVKH	1	Gallus gallus
R266	KVGRGRCSLCD	3	Homo sapiens, Rattus norvegicus, Mus musculus
R266	KMSRGRCAVCA	1	Danio rerio
R266	KVGRGRCALCD	1	Gallus gallus
R266	KVGRGRCSLCG	1	Bos taurus
S230	CLLGRSIGLAY	5	Homo sapiens, Gallus gallus, Bos taurus, Rattus norvegicus, Mus musculus
S230	CLLGRSIGVAY	1	Danio rerio