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 ITGAL

Gene summary

Basic gene Info.	Gene symbol	ITGAL
	Gene name	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)
	Synonyms	CD11A\|LFA-1\|LFA1A
	Cytomap	UCSC genome browser: 16p11.2
	Type of gene	protein-coding
	RefGenes	NM_001114380.1, NM_002209.2,
	Description	CD11 antigen-like family member ALFA-1 alphaLFA-1Aantigen CD11A (p180), lymphocyte function-associated antigen 1, alpha polypeptideintegrin alpha-Lintegrin gene promoterleukocyte adhesion glycoprotein LFA-1 alpha chainleukocyte function-associated
	Modification date	20141207
dbXrefs	MIM : 153370
	HGNC : HGNC
	Ensembl : ENSG00000005844
	HPRD : 01079
	Vega : OTTHUMG00000176964
Protein	UniProt: P20701 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ITGAL
	BioGPS: 3683
Pathway	NCI Pathway Interaction Database: ITGAL
	KEGG: ITGAL
	REACTOME: ITGAL
	Pathway Commons: ITGAL
Context	iHOP: ITGAL
	ligand binding site mutation search in PubMed: ITGAL
	UCL Cancer Institute: ITGAL
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

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Ligand binding site mutations for ITGAL

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
F159	L160M	COAD	1
Y282,I280	R281S	LUAD	1
E309	A307T	LUAD	1
V182	M183I	LUAD	1
V56	V58M	OV	1
Y282,I280	R281C	PRAD	1
E266	E266K	SKCM	1
V182	D181N	UCEC	1
T231	T231A	UCEC	1
E309	A307T	UCEC	1
Y191	S190L	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.

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Protein structure related information for ITGAL

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
Y282	R281S	-1.6462792
I280	R281S	-1.6462792
E266	E266K	-1.5962684
I280	R281C	-1.4536342
Y282	R281C	-1.4536342
T231	T231A	-1.3802915
F159	L160M	-1.1378669
V182	M183I	-1.0526095
V182	D181N	-0.78308329
E309	A307T	-0.7587698
V56	V58M	-0.60810261
Y191	S190L	-0.37921373

(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 ITGAL from PDB

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Differential gene expression and gene-gene network for ITGAL

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

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0023487	Leukemia, Promyelocytic, Acute	3	Biomarker
umls:C0004943	Behcet Syndrome	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for ITGAL

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
Approved\|investigational	DB00095	Efalizumab	Biotech
Approved	DB00098	Anti-thymocyte Globulin (Rabbit)	Biotech
Approved\|investigational	DB00227	Lovastatin	Small molecule
Experimental	DB02177	1-Acetyl-4-(4-{4-[(2-Ethoxyphenyl)Thio]-3-Nitrophenyl}Pyridin-2-Yl)Piperazine	Small molecule
Experimental	DB03932	LFA703	Small molecule
Experimental	DB04724	(S)-2-((S)-3-ISOBUTYL-2,5-DIOXO-4-QUINOLIN-3-YLMETHYL-[1,4]DIAZEPAN-1YL)-N-METHYL-3-NAPHTALEN-2-YL-PROPIONAMIDE	Small molecule
Experimental	DB06972	7A-[(4-cyanophenyl)methyl]-6-(3,5-dichlorophenyl)-5-oxo-2,3,5,7A-tetrahydro-1H-pyrrolo[1,2-A]pyrrole-7-carbonitrile	Small molecule
Experimental	DB07486	3-({4-[(1E)-3-morpholin-4-yl-3-oxoprop-1-en-1-yl]-2,3-bis(trifluoromethyl)phenyl}sulfanyl)aniline	Small molecule

Gene-centered ligand-gene interaction network

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

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
BJZ		6-[(5S,9R)-9-(4-CYANOPHENYL)-3-(3,5-DICHLOROPHENYL)-1-METHYL-2,4-DIOXO-1,3,7-TRIAZASPIRO[4.4]NON-7-YL]PYRIDINE-3-CARBOXYLIC ACID	3m6f	A	T231

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Conservation information for LBS of ITGAL

Multiple alignments for P20701 in multiple species

LBS

AA sequence

# species

Species