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 |
Active transcripts
Copyright & disclaimer |
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2009-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.
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