The ESX1 gene homepage

General information
Gene symbol ESX1
Gene name ESX homeobox 1
Chromosome X
Chromosomal band q22.2
Imprinted Unknown
Genomic reference NG_016393.1
Transcript reference NM_153448.3
Associated with diseases -
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 33
Unique public DNA variants reported 30
Individuals with public variants 22
Hidden variants 22
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated August 28, 2024
Version ESX1:240828

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC HGNC:14865
Entrez Gene 80712
PubMed articles ESX1
OMIM - Gene 300154
HGMD ESX1
GeneCards ESX1
NIH Genetic Testing Registry ESX1
Orphanet ESX1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001079 X ESX homeobox 1 NM_153448.3 NP_703149.1 33


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