LOVD ELANE homepage

General information
Gene name ELA2 elastase, neutrophil expressed
Gene symbol ELANE
Chromosome Location 19p13.3
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the ELANE database
Date of creation April 20, 2010
Last update December 12, 2011
Version ELANE111212
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_009627.1
Transcript refseq ID NM_001972.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 82
Total number of individuals with variant(s) 3
Total number of variants reported 82
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the ELANE database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the ELANE database, without patient data
Complete sequence variant listing Listing of all sequence variants in the ELANE database
Variants with no known pathogenicity Listing of all ELANE variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 3309
Entrez Gene 1991
OMIM - Gene 130130
UniProtKB (SwissProt/TrEMBL) P08246
GeneCards ELANE
GeneTests ELANE
External link ELA2base: Mutation registry for Cyclic and congenital neutropenia