| Variant ID | 29193 |
|---|---|
| Entrez Gene ID | 9775 |
| Gene | EIF4A3 (GeneCards) |
| Location | hg19 17:78113792-78113792
hg38 17:80139993-80139993 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000017.10:g.78113792 G>C (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.18 |
| CADD Raw score (version 1.3) | 0.111871 (Deleterious) |
| FATHMM raw prediction score | 0.18124 (Tolerated) |
| Deleterious probability by DeFine | 0.8918 (Deleterious) |
| Entrez Gene ID | 9775 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EIF4A3 (GeneCards) |
| Number of variants in EIF4A3 in this database | 1 (view all the variants) |
| Full name | eukaryotic translation initiation factor 4A3 |
| Band | 17q25.3 |
| Other IDs | Vega: OTTHUMG00000177538 OMIM: 608546 HGNC: HGNC:18683 Ensembl: ENSG00000141543 |
| Other names | Fal1, RCPS, DDX48, MUK34, NUK34, NMP265, eIF4AIII |
| Summary | This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a nuclear matrix protein. Its amino acid sequence is highly similar to the amino acid sequences of the translation initiation factors eIF4AI and eIF4AII, two other members of the DEAD box protein family. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.70 (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 |
| 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; |