STAT1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
STAT1 (HGNC:11362) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
signal transducer and activator of transcription 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
STAT91, ISGF-3
%HI
1.02(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.27(Read more about gnomAD LOEUF score)
Cytoband
2q32.2
Genomic Coordinates
GRCh37/hg19: chr2:191833875-191878897 NCBI Ensembl UCSC
GRCh38/hg38: chr2:190969149-191014171 NCBI Ensembl UCSC
MANE Select Transcript
NM_007315.4 ENST00000361099.8 (Read more about MANE Select)
Function
Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors (PubMed:9724754, PubMed:12855578, PubMed:12764129, PubMed:15322115, PubMed:34508746, PubMed:35568036, PubMed:23940278). Following type I IFN (IFN-alpha and IFN-beta) binding to cell surface receptors, signaling via protein kinases leads to activation of Jak kinases (TYK2 and JAK1) and to tyrosine phosphorylation of STAT1 and STAT2. ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-21052
ClinGen Curation ID:
CCID:007946
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
09/18/2013

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
From OMIM 600555: "Liu et al. (2011) noted that germline mutations in STAT1 underlie susceptibility to 3 different types of infectious disease: mycobacterial diseases, viral diseases, and chronic mucocutaneous candidiasis (CANDF7; 614162). Patients with STAT1 mutations and mycobacterial and/or viral disease do not suffer from chronic mucocutaneous candidiasis, and patients with chronic mucocutaneous candidiasis caused by other STAT1 mutations present no mycobacterial or viral diseases. Overall, mutations impairing STAT1 function confer autosomal dominant or autosomal recessive susceptibility to intracellular agents through impairment of IFNA/IFNB immunity (viral diseases) and/or IFNG immunity (mycobacterial diseases). In contrast, gain-of-function STAT1 mutations confer autosomal dominant chronic mucocutaneous candidiasis due to enhanced STAT1-mediated cellular responses to STAT1-dependent repressors and STAT3-dependent inducers of IL17-producing T cells." Though several missense mutations in STAT1 have been reported in association with autosomal dominant susceptibility to infections, there is not enough evidence at this time to indicate that this phenotype is the result of haploinsufficiency. Evidence currently suggests two mechanisms: autosomal dominant gain-of-function and autosomal recessive due to loss-of-function. The impact of heterozygosity for a some missense mutations is still unclear, with some studies suggesting a dominant-negative effect (PMID: 23585529, 22573496). See also PMID: 23709754, 23534974.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)