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 ITGB3

Gene summary

Basic gene Info.	Gene symbol	ITGB3
	Gene name	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
	Synonyms	BDPLT16\|BDPLT2\|CD61\|GP3A\|GPIIIa\|GT
	Cytomap	UCSC genome browser: 17q21.32
	Type of gene	protein-coding
	RefGenes	NM_000212.2,
	Description	integrin beta-3platelet membrane glycoprotein IIIa
	Modification date	20141222
dbXrefs	MIM : 173470
	HGNC : HGNC
	Ensembl : ENSG00000259207
	HPRD : 01428
	Vega : OTTHUMG00000171956
Protein	UniProt: P05106 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ITGB3
	BioGPS: 3690
Pathway	NCI Pathway Interaction Database: ITGB3
	KEGG: ITGB3
	REACTOME: ITGB3
	Pathway Commons: ITGB3
Context	iHOP: ITGB3
	ligand binding site mutation search in PubMed: ITGB3
	UCL Cancer Institute: ITGB3
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:0006457	protein folding	12204115
GO:0007160	cell-matrix adhesion	22505472
GO:0007229	integrin-mediated signaling pathway	23382103
GO:0034446	substrate adhesion-dependent cell spreading	24658351

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Ligand binding site mutations for ITGB3

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
K774	Y773H	BLCA	1
S703	K702T	COAD	1
E752	A754T	COAD	1
S379	R378G	COAD	1
A776	A776V	GBM	1
M361	D362Y	HNSC	1
K380	E382G	LUAD	1
D145	M144I	LUAD	1
M361	S363T	LUSC	1
D749	D749N	SKCM	1
M206	D205A	STAD	1
E664	E664K	UCEC	1
D749	R750Q	UCEC	1
S379	R378C	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 ITGB3

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
S379	R378G	-1.7304142
K774	Y773H	-1.3667032
S379	R378C	-1.3129824
M206	D205A	-1.3086455
E664	E664K	-1.2949879
D749	R750Q	-1.273372
K380	E382G	-1.1976907
E752	A754T	-1.0920673
M361	S363T	-0.99880474
D749	D749N	-0.88205183
S703	K702T	-0.64007164
M361	D362Y	-0.56534305
A776	A776V	-0.5300642
D145	M144I	-0.48244421

(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 ITGB3 from PDB

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Differential gene expression and gene-gene network for ITGB3

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 ITGB3 and the right PPI network was created from samples without mutations in the LBS of ITGB3. 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 ITGB3

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0027051	Myocardial Infarction	43	Biomarker, GeneticVariation
umls:C0040015	Thrombasthenia	35	AlteredExpression, Biomarker, GeneticVariation
umls:C0038454	Stroke	26	Biomarker, GeneticVariation
umls:C0010072	Coronary Thrombosis	11	Biomarker, GeneticVariation
umls:C0948089	Acute Coronary Syndrome	9	Biomarker, GeneticVariation
umls:C0004352	Autistic Disorder	8	AlteredExpression, Biomarker, GeneticVariation
umls:C0033578	Prostatic Neoplasms	7	AlteredExpression, Biomarker
umls:C0473780	Thrombocytopenia, Neonatal Alloimmune	5	Biomarker, GeneticVariation
umls:C0040034	Thrombocytopenia	5	Biomarker, GeneticVariation
umls:C0019080	Hemorrhage	2	Biomarker, GeneticVariation
umls:C0031117	Peripheral Nervous System Diseases	2	Biomarker, GeneticVariation
umls:C0007274	Carotid Artery Thrombosis	1	Biomarker
umls:C2937358	Cerebral Hemorrhage	1	Biomarker
umls:C0008074	Child Development Disorders, Pervasive	1	Biomarker
umls:C0017639	Gliosis	1	Biomarker
umls:C0019557	Hip Fractures	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for ITGB3

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	DB00054	Abciximab	Biotech
Approved\|investigational	DB00063	Eptifibatide	Biotech
Approved	DB00098	Anti-thymocyte Globulin (Rabbit)	Biotech
Approved	DB00775	Tirofiban	Small molecule
Investigational	DB04863	Lefradafiban	Small molecule
Investigational	DB05787	LM-609	Biotech