STAT1 gene homepage

General information
Gene symbol STAT1
Gene name signal transducer and activator of transcription 1, 91kDa
Chromosome 2
Chromosomal band q32.2-q32.3
Imprinted Unknown
Genomic reference LRG_111
Transcript reference NM_007315.3
Exon/intron information NM_007315.3 exon/intron table
Associated with diseases ?, IMD-31A, IMD-31B, IMD-31C
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Esther van de Vosse, Gerard C.P. Schaafsma and Mauno Vihinen
Total number of public variants reported 168
Unique public DNA variants reported 90
Individuals with public variants 194
Hidden variants 3
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated August 06, 2020
Version STAT1:200806

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_007315.3.
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
Homepage URL
External URL Orphanet
STAT1base: Mutation registry for STAT1 deficiency
HGNC 11362
Entrez Gene 6772
PubMed articles STAT1
OMIM - Gene 600555
OMIM - Diseases IMD-31A (immunodeficiency, type 31A, mycobacteriosis, autosomal dominant (IMD-31A))
IMD-31B (immunodeficiency, type 31B, mycobacterial and viral infections, autosomal recessive (IMD-31B))
GeneCards STAT1
GeneTests STAT1

Active transcripts




NCBI ID     

NCBI Protein ID     

00020436 2 transcript variant alpha NM_007315.3 NP_009330.1 168

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2010-2020. 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.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.