| Variant ID | 29639 |
|---|---|
| Entrez Gene ID | 23328 |
| Gene | SASH1 (GeneCards) |
| Location | hg19 6:148835535-148835535
hg38 6:148514399-148514399 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000006.11:g.148835535 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 6771988 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.7721 |
| CADD Raw score (version 1.3) | 8.094089 (Deleterious) |
| FATHMM raw prediction score | 0.94299 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.1 (Tolerated) |
| PROVEAN score | -3.56 (Deleterious) |
| MetaSVM score | -0.778 (Tolerated) |
| MetaLR score | 0.192 (Tolerated) |
| MCAP score | 0.022 (Tolerated) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.52 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.499 |
| Deleterious probability by iFish2 | 0.6509 (Deleterious) |
| Deleterious probability by DeFine | 0.9398 (Deleterious) |
| Entrez Gene ID | 23328 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SASH1 (GeneCards) |
| Number of variants in SASH1 in this database | 5 (view all the variants) |
| Full name | SAM and SH3 domain containing 1 |
| Band | 6q24.3-q25.1 |
| Other IDs | Vega: OTTHUMG00000015773 OMIM: 607955 HGNC: HGNC:19182 Ensembl: ENSG00000111961 |
| Other names | SH3D6A, dJ323M4.1 |
| Summary | This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016] |
| Individual ID | 28714951.315 (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; |