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 IL5RA

Gene summary

Basic gene Info.	Gene symbol	IL5RA
	Gene name	interleukin 5 receptor, alpha
	Synonyms	CD125\|CDw125\|HSIL5R3\|IL5R
	Cytomap	UCSC genome browser: 3p26-p24
	Type of gene	protein-coding
	RefGenes	NM_000564.4, NM_001243099.1,NM_175724.2,NM_175725.2,NM_175726.3, NM_175727.2,NM_175728.2,
	Description	CD125 antigenIL-5 receptor subunit alphaIL-5R subunit alphainterleukin 5 receptor type 3interleukin-5 receptor alpha chaininterleukin-5 receptor subunit alpha
	Modification date	20141207
dbXrefs	MIM : 147851
	HGNC : HGNC
	Ensembl : ENSG00000091181
	HPRD : 00998
	Vega : OTTHUMG00000090245
Protein	UniProt: Q01344 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_IL5RA
	BioGPS: 3568
Pathway	NCI Pathway Interaction Database: IL5RA
	KEGG: IL5RA
	REACTOME: IL5RA
	Pathway Commons: IL5RA
Context	iHOP: IL5RA
	ligand binding site mutation search in PubMed: IL5RA
	UCL Cancer Institute: IL5RA
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 IL5RA

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
Y172	L171I	COAD	2
K68	V67E	BRCA	1
Y172	R174G	LUAD	1
S115	A116S	LUSC	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 IL5RA

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
S115	A116S	0.6392426
Y172	R174G	-1.828544
Y172	L171I	-1.3347362
K68	V67E	-1.1756804

(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 IL5RA from PDB

PDB ID	PDB title	PDB structure
3QT2	Structure of a cytokine ligand-receptor complex

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Differential gene expression and gene-gene network for IL5RA

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 IL5RA and the right PPI network was created from samples without mutations in the LBS of IL5RA. 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 IL5RA

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0000786	Abortion, Spontaneous	1	Biomarker
umls:C0020517	Hypersensitivity	1	Biomarker
umls:C0032285	Pneumonia	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for IL5RA

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.