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 729966

Gene summary

Basic gene Info.	Gene symbol	729966
	Gene name
	Synonyms
	Cytomap	UCSC genome browser:
	Type of gene
	RefGenes
	Description
	Modification date
dbXrefs
Protein	UniProt: Q08493 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_729966
	BioGPS: 729966
Pathway	NCI Pathway Interaction Database: 729966
	KEGG: 729966
	REACTOME: 729966
	Pathway Commons: 729966
Context	iHOP: 729966
	ligand binding site mutation search in PubMed: 729966
	UCL Cancer Institute: 729966
Assigned class in mutLBSgeneDB

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

GO ID

GO Term

PubMed ID

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Ligand binding site mutations for 729966

Cancer type specific mutLBS sorted by frequency

LBS

AAchange of nsSNV

Cancer type

# samples

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 729966

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
D429	D429N	-0.40433243
D546	A545V	-0.3834742

(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 729966 from PDB

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Differential gene expression and gene-gene network for 729966

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 729966 and the right PPI network was created from samples without mutations in the LBS of 729966. 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 729966

Gene level disease information (DisGeNet)

Disease ID

Disease name

# PubMed

Association type

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for 729966

Drug information targeting mutLBSgene (Approved drugs only)

Drug status	DrugBank ID	Name	Type	Drug structure
Approved	DB00651	Dyphylline	Small molecule
Approved	DB00920	Ketotifen	Small molecule
Approved\|investigational	DB01088	Iloprost	Small molecule
Approved	DB01656	Roflumilast	Small molecule
Experimental	DB01791	Piclamilast	Small molecule
Investigational	DB05219	AN2728	Small molecule
Approved\|investigational	DB05266	Ibudilast	Small molecule