| Variant ID | 29804 |
|---|---|
| Entrez Gene ID | 51657 |
| Gene | STYXL1 (GeneCards) |
| Location | hg19 7:75625830-75625830
hg38 7:75996512-75996512 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000007.13:g.75625830 T>C (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.2726 |
| CADD Raw score (version 1.3) | -1.788375 (Deleterious) |
| FATHMM raw prediction score | 0.01548 (Tolerated) |
| SIFT score | 0.511 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| PROVEAN score | -0.06 (Tolerated) |
| MetaSVM score | -1.011 (Tolerated) |
| MetaLR score | 0.079 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -2.79 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.912 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.086 |
| Deleterious probability by iFish2 | 0.0201 (Neutral) |
| Deleterious probability by DeFine | 0.7957 (Deleterious) |
| Entrez Gene ID | 51657 (NCBI Gene) |
|---|---|
| Official Gene Symbol | STYXL1 (GeneCards) |
| Number of variants in STYXL1 in this database | 2 (view all the variants) |
| Full name | serine/threonine/tyrosine interacting like 1 |
| Band | 7q11.23 |
| Other IDs | Vega: OTTHUMG00000130459 OMIM: 616695 HGNC: HGNC:18165 Ensembl: ENSG00000127952 |
| Other names | DUSP24, MKSTYX, MK-STYX |
| Summary | None |
| Individual ID | 28867142.32 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |