Variant ID | 29249 |
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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) |
Exon or Intron | Exon |
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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 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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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) |
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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 ID | 28503910.126 (view all the variants in this individual) |
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Pubmed ID | 28503910 |
Whose mosaic mutation | Patient |
Phenotype | 3 |
Disease | Autism Spectrum Disorders (view all the variants in this disease) |
OMIM ID | 209850 |
Pubmed ID | 28503910 |
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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; |