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 ELANE
Gene summary
Basic gene Info.Gene symbolELANE
Gene nameelastase, neutrophil expressed
SynonymsELA2|GE|HLE|HNE|NE|PMN-E|SCN1
CytomapUCSC genome browser: 19p13.3
Type of geneprotein-coding
RefGenesNM_001972.2,
DescriptionPMN elastasebone marrow serine proteaseelastase 2, neutrophilelastase-2granulocyte-derived elastasehuman leukocyte elastaseleukocyte elastasemedullasinneutrophil elastasepolymorphonuclear elastase
Modification date20141221
dbXrefs MIM : 130130
HGNC : HGNC
Ensembl : ENSG00000197561
HPRD : 00554
Vega : OTTHUMG00000181839
ProteinUniProt: P08246
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ELANE
BioGPS: 1991
PathwayNCI Pathway Interaction Database: ELANE
KEGG: ELANE
REACTOME: ELANE
Pathway Commons: ELANE
ContextiHOP: ELANE
ligand binding site mutation search in PubMed: ELANE
UCL Cancer Institute: ELANE
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006508proteolysis11907569
GO:0009411response to UV11928814
GO:0042742defense response to bacterium14705961
GO:0045079negative regulation of chemokine biosynthetic process12223522
GO:0045415negative regulation of interleukin-8 biosynthetic process12223522
GO:0045416positive regulation of interleukin-8 biosynthetic process14730209
GO:0048661positive regulation of smooth muscle cell proliferation15010259


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Ligand binding site mutations for ELANE

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D117D117NBRCA1
N209N209ICOAD1
S202S204NCOAD1
V207V207IGBM1
G210G210ESKCM1
R91R91QSTAD1
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 ELANE
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
N209N209I0.3041525
D117D117N-1.3836104
R91R91Q-1.1479134
V207V207I-1.0310029
S202S204N-0.92171535
G210G210E-0.23735642
(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 ELANE from PDB

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Differential gene expression and gene-gene network for ELANE
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 ELANE and the right PPI network was created from samples without mutations in the LBS of ELANE. 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 ELANE
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0027947Neutropenia20Biomarker, GeneticVariation
umls:C0221023Cyclic neutropenia16Biomarker, GeneticVariation

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

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Pharmacological information for ELANE
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 statusDrugBank IDNameTypeDrug structure
ApprovedDB00019PegfilgrastimBiotech
ApprovedDB00058Alpha-1-proteinase inhibitorBiotech
ApprovedDB00099FilgrastimBiotech
ExperimentalDB02341Mdl 101,146Small molecule
Experimental|investigationalDB03925ONO-6818Small molecule
InvestigationalDB05161ElafinSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ELANE go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
FULBETA-L-FUCOSE4nzlAN209 G210


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Conservation information for LBS of ELANE
Multiple alignments for P08246 in multiple species
LBSAA sequence# speciesSpecies


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