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 AZU1
Gene summary
Basic gene Info.Gene symbolAZU1
Gene nameazurocidin 1
SynonymsAZAMP|AZU|CAP37|HBP|HUMAZUR|NAZC
CytomapUCSC genome browser: 19p13.3
Type of geneprotein-coding
RefGenesNM_001700.3,
Descriptionazurocidincationic antimicrobial protein 37cationic antimicrobial protein CAP37heparin-binding proteinneutrophil azurocidin
Modification date20141217
dbXrefs MIM : 162815
HGNC : HGNC
Ensembl : ENSG00000172232
HPRD : 01221
Vega : OTTHUMG00000187023
ProteinUniProt: P20160
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_AZU1
BioGPS: 566
PathwayNCI Pathway Interaction Database: AZU1
KEGG: AZU1
REACTOME: AZU1
Pathway Commons: AZU1
ContextiHOP: AZU1
ligand binding site mutation search in PubMed: AZU1
UCL Cancer Institute: AZU1
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
GO:0008347glial cell migration12465046
GO:0042535positive regulation of tumor necrosis factor biosynthetic process12465046
GO:0045785positive regulation of cell adhesion12826073
GO:0050725positive regulation of interleukin-1 beta biosynthetic process12465046
GO:0050754positive regulation of fractalkine biosynthetic process12465046
GO:0050766positive regulation of phagocytosis12465046


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Ligand binding site mutations for AZU1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R123R123LLUAD1
F40F40LLUAD1
R36,F38Q37KLUSC1
S93S93FSKCM1
I196G195SSKCM1
G247G247RSKCM1
R36P35SSTAD1
Q179R181CUCEC1
R158R158CUCEC1
T96S98YUCEC1
R123R123LUCEC1
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 AZU1
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
I196G195S-1.1803675
R158R158C-1.1685662
Q179R181C-0.91201399
G247G247R-0.89386841
R36P35S-0.78257523
R123R123L-0.73996764
R36Q37K-0.71929003
F38Q37K-0.71929003
F40F40L-0.69312707
T96S98Y-0.66441764
S93S93F-0.6057846
(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 AZU1 from PDB

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Differential gene expression and gene-gene network for AZU1
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 AZU1 and the right PPI network was created from samples without mutations in the LBS of AZU1. 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 AZU1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for AZU1
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 AZU1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of AZU1
Multiple alignments for P20160 in multiple species
LBSAA sequence# speciesSpecies


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