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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)