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 HLA-G

Gene summary

Basic gene Info.	Gene symbol	HLA-G
	Gene name	major histocompatibility complex, class I, G
	Synonyms	MHC-G
	Cytomap	UCSC genome browser: 6p21.3
	Type of gene	protein-coding
	RefGenes	NM_002127.5,
	Description	HLA G antigenHLA class I histocompatibility antigen, alpha chain GHLA class I moleculeHLA-G histocompatibility antigen, class I, GMHC class I antigen Gb2 microglobulin
	Modification date	20141222
dbXrefs	MIM : 142871
	HGNC : HGNC
	Ensembl : ENSG00000204632
	HPRD : 00834
	Vega : OTTHUMG00000031157
Protein	UniProt: P17693 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_HLA-G
	BioGPS: 3135
Pathway	NCI Pathway Interaction Database: HLA-G
	KEGG: HLA-G
	REACTOME: HLA-G
	Pathway Commons: HLA-G
Context	iHOP: HLA-G
	ligand binding site mutation search in PubMed: HLA-G
	UCL Cancer Institute: HLA-G
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:0002767	immune response-inhibiting cell surface receptor signaling pathway	20702625
GO:0032735	positive regulation of interleukin-12 production	20702625
GO:0042130	negative regulation of T cell proliferation	20702625
GO:2001199	negative regulation of dendritic cell differentiation	20702625

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Ligand binding site mutations for HLA-G

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
E86	E86D	COAD	1
L105	R106C	COAD	1
Y83	E82K	STAD	1
Y183	A182T	STAD	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 HLA-G

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
E86	E86D	-1.0658764
Y183	A182T	-0.86558902
Y83	E82K	-0.82218086
L105	R106C	-0.76196381

(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 HLA-G from PDB

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Differential gene expression and gene-gene network for HLA-G

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 HLA-G and the right PPI network was created from samples without mutations in the LBS of HLA-G. 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 HLA-G

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0004096	Asthma	8	Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for HLA-G

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.