| Variant ID | 29868 |
|---|---|
| Entrez Gene ID | 4093 |
| Gene | SMAD9 (GeneCards) |
| Location | hg19 13:37447001-37447001
hg38 13:36872864-36872864 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000013.10:g.37447001 C>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.228 |
| CADD Raw score (version 1.3) | 5.581151 (Deleterious) |
| FATHMM raw prediction score | 0.94978 (Tolerated) |
| SIFT score | 0.088 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.975 (Deleterious) |
| PROVEAN score | -1.82 (Tolerated) |
| MetaSVM score | 0.61 (Deleterious) |
| MetaLR score | 0.804 (Deleterious) |
| MCAP score | 0.242 (Deleterious) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.4 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.599 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.189 |
| Deleterious probability by iFish2 | 0.9718 (Deleterious) |
| Deleterious probability by DeFine | 0.9761 (Deleterious) |
| Entrez Gene ID | 4093 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SMAD9 (GeneCards) |
| Number of variants in SMAD9 in this database | 2 (view all the variants) |
| Full name | SMAD family member 9 |
| Band | 13q13.3 |
| Other IDs | Vega: OTTHUMG00000016740 OMIM: 603295 HGNC: HGNC:6774 Ensembl: ENSG00000120693 |
| Other names | PPH2, MADH6, MADH9, SMAD8, SMAD8A, SMAD8B, SMAD8/9 |
| Summary | The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] |
| Individual ID | 28867142.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |