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 ITGAX

Gene summary

Basic gene Info.	Gene symbol	ITGAX
	Gene name	integrin, alpha X (complement component 3 receptor 4 subunit)
	Synonyms	CD11C\|SLEB6
	Cytomap	UCSC genome browser: 16p11.2
	Type of gene	protein-coding
	RefGenes	NM_000887.4, NM_001286375.1,
	Description	CD11 antigen-like family member Cintegrin alpha-Xintegrin, alpha X (antigen CD11C (p150), alpha polypeptide)leu M5, alpha subunitleukocyte adhesion glycoprotein p150,95 alpha chainleukocyte adhesion receptor p150,95leukocyte surface antigen p150,95,
	Modification date	20141207
dbXrefs	MIM : 151510
	HGNC : HGNC
	Ensembl : ENSG00000140678
	HPRD : 01051
	Vega : OTTHUMG00000132465
Protein	UniProt: P20702 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ITGAX
	BioGPS: 3687
Pathway	NCI Pathway Interaction Database: ITGAX
	KEGG: ITGAX
	REACTOME: ITGAX
	Pathway Commons: ITGAX
Context	iHOP: ITGAX
	ligand binding site mutation search in PubMed: ITGAX
	UCL Cancer Institute: ITGAX
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

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Ligand binding site mutations for ITGAX

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
D530	G529W	LUAD	1
D530	L528Q	LUAD	1
D593	G591V	LUAD	1
K535	K535Q	OV	1
D466	S464F	SKCM	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 ITGAX

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
D530	L528Q	-1.1985133
K535	K535Q	-0.9145622
D530	G529W	-0.83906695
D466	S464F	-0.59965923
D593	G591V	-0.3979873

(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 ITGAX from PDB

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Differential gene expression and gene-gene network for ITGAX

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

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0024141	Lupus Erythematosus, Systemic	2	Biomarker, GeneticVariation
umls:C0023487	Leukemia, Promyelocytic, Acute	2	AlteredExpression, Biomarker
umls:C0017661	Glomerulonephritis, IGA	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for ITGAX

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.