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 GLI1

Gene summary

Basic gene Info.	Gene symbol	GLI1
	Gene name	GLI family zinc finger 1
	Synonyms	GLI
	Cytomap	UCSC genome browser: 12q13.2-q13.3
	Type of gene	protein-coding
	RefGenes	NM_001160045.1, NM_001167609.1,NM_005269.2,
	Description	GLI-Kruppel family member GLI1glioma-associated oncogene 1glioma-associated oncogene homolog 1 (zinc finger protein)oncogene GLIzinc finger protein GLI1
	Modification date	20141222
dbXrefs	MIM : 165220
	HGNC : HGNC
	Ensembl : ENSG00000111087
	HPRD : 01311
	Vega : OTTHUMG00000167332
Protein	UniProt: P08151 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_GLI1
	BioGPS: 2735
Pathway	NCI Pathway Interaction Database: GLI1
	KEGG: GLI1
	REACTOME: GLI1
	Pathway Commons: GLI1
Context	iHOP: GLI1
	ligand binding site mutation search in PubMed: GLI1
	UCL Cancer Institute: GLI1
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:0001649	osteoblast differentiation	12165851
GO:0007224	smoothened signaling pathway	19878745
GO:0009913	epidermal cell differentiation	12165851
GO:0045740	positive regulation of DNA replication	12165851
GO:0045880	positive regulation of smoothened signaling pathway	17035233
GO:0045893	positive regulation of transcription, DNA-templated	11238441
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	10693759

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Ligand binding site mutations for GLI1

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
R380	R380Q	COAD	3
H321	R323W	BRCA	1
H262	G263E	COAD	1
R314	R314L	KIRC	1
K360,C364	Y362C	LUSC	1
S378	S378L	SKCM	1
R314	R314H	STAD	1
R380	R380Q	UCEC	1
C237	T235I	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.

Clinical information for GLI1 from My Cancer Genome.

GLI1 family zinc finger 1 (GLI1) is a gene that encodes a protein that functions as a transcription factor protein. The protein is activated by the sonic hedgehog signal transduction pathway. The protein also plays a role in the regulation of stem cell proliferation. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.Modified: July 1, 2015

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Protein structure related information for GLI1

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
S378	S378L	0.30506206
H262	G263E	0.15755344
R380	R380Q	-1.4678383
C237	T235I	-1.2638596
C364	Y362C	-1.0628328
K360	Y362C	-1.0628328
H321	R323W	-1.0216747
R314	R314H	-0.97554572
R314	R314L	-0.37528252

(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 GLI1 from PDB

PDB ID	PDB title	PDB structure
2GLI	FIVE-FINGER GLI/DNA COMPLEX

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Differential gene expression and gene-gene network for GLI1

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 GLI1 and the right PPI network was created from samples without mutations in the LBS of GLI1. 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 GLI1

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0005695	Urinary Bladder Neoplasms	3	Biomarker
umls:C0023487	Leukemia, Promyelocytic, Acute	1	Biomarker
umls:C0031117	Peripheral Nervous System Diseases	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for GLI1

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.