Overview

Variant ID 29249
Entrez Gene ID 2735
Gene GLI1 (GeneCards)
Location hg19 12:57865430-57865430
hg38 12:57471647-57471647
Disease Autism Spectrum Disorders (view all the variants in this disease)
Method PASM
Mutation(HGVS format) NC_000012.11:g.57865430 A>G (Genome Assembly: GRCh37)

Other information

Exon or Intron Exon
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 133851895

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.3827
CADD Raw score (version 1.3) -0.234735 (Deleterious)
FATHMM raw prediction score 0.48245 (Tolerated)
Deleterious probability by DeFine 0.91 (Deleterious)
Entrez Gene ID 2735 (NCBI Gene)
Official Gene Symbol GLI1 (GeneCards)
Number of variants in GLI1 in this database 1 (view all the variants)
Full name GLI family zinc finger 1
Band 12q13.3
Other IDs Vega: OTTHUMG00000167332
OMIM: 165220
HGNC: HGNC:4317
Ensembl: ENSG00000111087
Other names GLI
Summary This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

Individual #1

Individual ID 28503910.126 (view all the variants in this individual)
Pubmed ID 28503910
Whose mosaic mutation Patient  
Phenotype 3  
Disease Autism Spectrum Disorders (view all the variants in this disease)
OMIM ID 209850

Publication #1: 28503910

Pubmed ID 28503910
Title Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations
Journal Human Mutation
Publication date 2017.05
Disease Autism Spectrum Disorders
Incidence 0.01
Number of cases cases of unknown sex: 215;