| Variant ID | 29630 |
|---|---|
| Entrez Gene ID | 23293 |
| Gene | SMG6 (GeneCards) |
| Location | hg19 17:2203809-2203809
hg38 17:2300515-2300515 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000017.10:g.2203809 T>C (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.196 |
| CADD Raw score (version 1.3) | 1.028844 (Deleterious) |
| FATHMM raw prediction score | 0.63987 (Tolerated) |
| SIFT score | 0.061 (Tolerated) |
| LRT score | 0.019 (Tolerated) |
| MutationTaster score | 0.991 (Tolerated) |
| MutatioinAssessor score | 1.78 (Tolerated) |
| PROVEAN score | -0.67 (Tolerated) |
| MetaSVM score | -0.985 (Tolerated) |
| MetaLR score | 0.013 (Tolerated) |
| MCAP score | 0.004 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.11 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.723 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.466 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 4.046 |
| Deleterious probability by iFish2 | 0.1602 (Neutral) |
| Deleterious probability by DeFine | 0.9085 (Deleterious) |
| Entrez Gene ID | 23293 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SMG6 (GeneCards) |
| Number of variants in SMG6 in this database | 2 (view all the variants) |
| Full name | SMG6, nonsense mediated mRNA decay factor |
| Band | 17p13.3 |
| Other IDs | Vega: OTTHUMG00000177578 OMIM: 610963 HGNC: HGNC:17809 Ensembl: ENSG00000070366 |
| Other names | EST1A, SMG-6, C17orf31, hSMG5/7a |
| Summary | This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014] |
| Individual ID | 28714951.306 (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; |