| Variant ID | 29335 |
|---|---|
| Entrez Gene ID | 10146 |
| Gene | G3BP1 (GeneCards) |
| Location | hg19 5:151166215-151166215
hg38 5:151786654-151786654 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000005.9:g.151166215 G>A (Genome Assembly: hg19) |
| 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9042 |
| CADD Raw score (version 1.3) | 5.117266 (Deleterious) |
| FATHMM raw prediction score | 0.97509 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.175 (Deleterious) |
| PROVEAN score | -7.76 (Deleterious) |
| MetaSVM score | 1.001 (Deleterious) |
| MetaLR score | 0.879 (Deleterious) |
| MCAP score | 0.686 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.15 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.746 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.84 |
| Deleterious probability by iFish2 | 0.0742 (Neutral) |
| Deleterious probability by DeFine | 0.9646 (Deleterious) |
| Entrez Gene ID | 10146 (NCBI Gene) |
|---|---|
| Official Gene Symbol | G3BP1 (GeneCards) |
| Number of variants in G3BP1 in this database | 3 (view all the variants) |
| Full name | G3BP stress granule assembly factor 1 |
| Band | 5q33.1 |
| Other IDs | Vega: OTTHUMG00000130123 OMIM: 608431 HGNC: HGNC:30292 Ensembl: ENSG00000145907 |
| Other names | G3BP, HDH-VIII |
| Summary | This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |