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 symbolITGAX
Gene nameintegrin, alpha X (complement component 3 receptor 4 subunit)
SynonymsCD11C|SLEB6
CytomapUCSC genome browser: 16p11.2
Type of geneprotein-coding
RefGenesNM_000887.4,
NM_001286375.1,
DescriptionCD11 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 date20141207
dbXrefs MIM : 151510
HGNC : HGNC
Ensembl : ENSG00000140678
HPRD : 01051
Vega : OTTHUMG00000132465
ProteinUniProt: P20702
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ITGAX
BioGPS: 3687
PathwayNCI Pathway Interaction Database: ITGAX
KEGG: ITGAX
REACTOME: ITGAX
Pathway Commons: ITGAX
ContextiHOP: ITGAX
ligand binding site mutation search in PubMed: ITGAX
UCL Cancer Institute: ITGAX
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for ITGAX

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D530G529WLUAD1
D530L528QLUAD1
D593G591VLUAD1
K535K535QOV1
D466S464FSKCM1
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.
LBSAAchange of nsSNVRelative stability change
D530L528Q-1.1985133
K535K535Q-0.9145622
D530G529W-0.83906695
D466S464F-0.59965923
D593G591V-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 IDDisease name# PubMedAssociation type
umls:C0024141Lupus Erythematosus, Systemic2Biomarker, GeneticVariation
umls:C0023487Leukemia, Promyelocytic, Acute2AlteredExpression, Biomarker
umls:C0017661Glomerulonephritis, IGA1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype 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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ITGAX go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of ITGAX
Multiple alignments for P20702 in multiple species
LBSAA sequence# speciesSpecies


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