| Variant ID | 29586 |
|---|---|
| Entrez Gene ID | 9908 |
| Gene | G3BP2 (GeneCards) |
| Location | hg19 4:76580350-76580350
hg38 4:75655166-75655166 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000004.11:g.76580350 A>G (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2431 |
| CADD Raw score (version 1.3) | 1.646713 (Deleterious) |
| FATHMM raw prediction score | 0.88479 (Tolerated) |
| SIFT score | 0.334 (Tolerated) |
| LRT score | 0.032 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.355 (Tolerated) |
| PROVEAN score | 2.48 (Tolerated) |
| MetaSVM score | -0.876 (Tolerated) |
| MetaLR score | 0.161 (Tolerated) |
| MCAP score | 0.032 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.76 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.22 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.878 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.065 |
| Deleterious probability by iFish2 | 0.9649 (Deleterious) |
| Deleterious probability by DeFine | 0.8738 (Deleterious) |
| Entrez Gene ID | 9908 (NCBI Gene) |
|---|---|
| Official Gene Symbol | G3BP2 (GeneCards) |
| Number of variants in G3BP2 in this database | 1 (view all the variants) |
| Full name | G3BP stress granule assembly factor 2 |
| Band | 4q21.1 |
| Other IDs | Vega: OTTHUMG00000130097 HGNC: HGNC:30291 Ensembl: ENSG00000138757 |
| Other names | None |
| Summary | None |
| Individual ID | 28714951.262 (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; |