| Variant ID | 29422 |
|---|---|
| Entrez Gene ID | 79574 |
| Gene | EPS8L3 (GeneCards) |
| Location | hg19 1:110294811-110294811
hg38 1:109752189-109752189 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.110294811 C>T (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.2545 |
| CADD Raw score (version 1.3) | -0.32805 (Deleterious) |
| FATHMM raw prediction score | 0.01721 (Tolerated) |
| SIFT score | 0.443 (Tolerated) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.57 (Tolerated) |
| PROVEAN score | -0.4 (Tolerated) |
| MetaSVM score | -1.091 (Tolerated) |
| MetaLR score | 0.041 (Tolerated) |
| MCAP score | 0.022 (Tolerated) |
| FitCons score | 0.447 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -1.03 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.11 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.854 |
| Deleterious probability by iFish2 | 0.0414 (Neutral) |
| Deleterious probability by DeFine | 0.7027 (Deleterious) |
| Entrez Gene ID | 79574 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EPS8L3 (GeneCards) |
| Number of variants in EPS8L3 in this database | 4 (view all the variants) |
| Full name | EPS8 like 3 |
| Band | 1p13.3 |
| Other IDs | Vega: OTTHUMG00000011651 OMIM: 614989 HGNC: HGNC:21297 Ensembl: ENSG00000198758 |
| Other names | EPS8R3 |
| Summary | This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.98 (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; |