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 MST1R

Gene summary

Basic gene Info.	Gene symbol	MST1R
	Gene name	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)
	Synonyms	CD136\|CDw136\|PTK8\|RON
	Cytomap	UCSC genome browser: 3p21.3
	Type of gene	protein-coding
	RefGenes	NM_001244937.1, NM_002447.2,
	Description	MSP receptorMST1R variant RON30MST1R variant RON62PTK8 protein tyrosine kinase 8RON variant 21RON variant E2E3c-met-related tyrosine kinasemacrophage-stimulating protein receptorp185-Ronsoluble RON variant 1soluble RON variant 2soluble RON vari
	Modification date	20141222
dbXrefs	MIM : 600168
	HGNC : HGNC
	Ensembl : ENSG00000164078
	HPRD : 02545
	Vega : OTTHUMG00000156709
Protein	UniProt: Q04912 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_MST1R
	BioGPS: 4486
Pathway	NCI Pathway Interaction Database: MST1R
	KEGG: MST1R
	REACTOME: MST1R
	Pathway Commons: MST1R
Context	iHOP: MST1R
	ligand binding site mutation search in PubMed: MST1R
	UCL Cancer Institute: MST1R
Assigned class in mutLBSgeneDB	B: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

GO ID	GO Term	PubMed ID
GO:0009615	response to virus	12676986
GO:0043406	positive regulation of MAP kinase activity	12676986
GO:0051897	positive regulation of protein kinase B signaling	12676986

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Ligand binding site mutations for MST1R

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
R1212	T1212I	BLCA	1
V1096	V1094M	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 MST1R

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 MST1R from PDB

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Differential gene expression and gene-gene network for MST1R

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 MST1R and the right PPI network was created from samples without mutations in the LBS of MST1R. 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 MST1R

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0860207	Drug-Induced Liver Injury	1	Biomarker
umls:C0029463	Osteosarcoma	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for MST1R

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.