ELANE homepage - CCHMC Molecular Genetics Laboratory Mutation Database - Leiden Open Variation Database

CCHMC Molecular Genetics Laboratory Mutation Database

ELA2 elastase, neutrophil expressed (ELANE)

LOVD v.2.0 Build 36 [ Current LOVD status ]
Register as submitter | Log in

Curator: Ammar Husami

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
First time submitters	Register here
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
Subscribe to updates of this gene

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
HGMD	ELANE
GeneCards	ELANE
GeneTests	ELANE
External link	ELA2base: Mutation registry for Cyclic and congenital neutropenia