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mutLBSgeneDB |
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| Gene summary for ELANE |
 Gene summary |
| Basic gene Info. | Gene symbol | ELANE |
| Gene name | elastase, neutrophil expressed | |
| Synonyms | ELA2|GE|HLE|HNE|NE|PMN-E|SCN1 | |
| Cytomap | UCSC genome browser: 19p13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001972.2, | |
| Description | PMN elastasebone marrow serine proteaseelastase 2, neutrophilelastase-2granulocyte-derived elastasehuman leukocyte elastaseleukocyte elastasemedullasinneutrophil elastasepolymorphonuclear elastase | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 130130 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000197561 | ||
| HPRD : 00554 | ||
| Vega : OTTHUMG00000181839 | ||
| Protein | UniProt: P08246 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ELANE | |
| BioGPS: 1991 | ||
| Pathway | NCI Pathway Interaction Database: ELANE | |
| KEGG: ELANE | ||
| REACTOME: ELANE | ||
| Pathway Commons: ELANE | ||
| Context | iHOP: ELANE | |
| ligand binding site mutation search in PubMed: ELANE | ||
| UCL Cancer Institute: ELANE | ||
| 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 | GO:0006508 | proteolysis | 11907569 | GO:0009411 | response to UV | 11928814 | GO:0042742 | defense response to bacterium | 14705961 | GO:0045079 | negative regulation of chemokine biosynthetic process | 12223522 | GO:0045415 | negative regulation of interleukin-8 biosynthetic process | 12223522 | GO:0045416 | positive regulation of interleukin-8 biosynthetic process | 14730209 | GO:0048661 | positive regulation of smooth muscle cell proliferation | 15010259 |
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| Ligand binding site mutations for ELANE |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D117 | D117N | BRCA | 1 | N209 | N209I | COAD | 1 | S202 | S204N | COAD | 1 | V207 | V207I | GBM | 1 | G210 | G210E | SKCM | 1 | R91 | R91Q | STAD | 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 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 |
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| 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 | N209 | N209I | 0.3041525 | D117 | D117N | -1.3836104 | R91 | R91Q | -1.1479134 | V207 | V207I | -1.0310029 | S202 | S204N | -0.92171535 | G210 | G210E | -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) |
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| Phenotype information for ELANE |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027947 | Neutropenia | 20 | Biomarker, GeneticVariation |
| umls:C0221023 | Cyclic neutropenia | 16 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00019 | Pegfilgrastim | Biotech |  |
| Approved | DB00058 | Alpha-1-proteinase inhibitor | Biotech |  |
| Approved | DB00099 | Filgrastim | Biotech |  |
| Experimental | DB02341 | Mdl 101,146 | Small molecule |  |
| Experimental|investigational | DB03925 | ONO-6818 | Small molecule |  |
| Investigational | DB05161 | Elafin | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ELANE go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FUL | BETA-L-FUCOSE | 4nzl | A | N209 G210 |
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| Conservation information for LBS of ELANE |
| Multiple alignments for P08246 in multiple species |
| LBS | AA sequence | # species | Species |
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