Overview

Variant ID 3534
Entrez Gene ID 6772
Gene STAT1 (GeneCards)
Location hg19 2:191857623-191857623
hg38 2:190992897-190992897
Disease
Method HiSeq X Ten
Mutation(HGVS format) NC_000002.11:g.191857623 C>G (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 243199373

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2029
CADD Raw score (version 1.3) -0.055692 (Deleterious)
FATHMM raw prediction score 0.09892 (Tolerated)
Deleterious probability by DeFine 0.2341 (Neutral)
Entrez Gene ID 6772 (NCBI Gene)
Official Gene Symbol STAT1 (GeneCards)
Number of variants in STAT1 in this database 4 (view all the variants)
Full name signal transducer and activator of transcription 1
Band 2q32.2
Other IDs Vega: OTTHUMG00000132699
OMIM: 600555
HGNC: HGNC:11362
Ensembl: ENSG00000115415
Other names CANDF7, IMD31A, IMD31B, IMD31C, ISGF-3, STAT91
Summary The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Two alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;