| Variant ID | 29895 |
|---|---|
| Entrez Gene ID | 112755 |
| Gene | STX1B (GeneCards) |
| Location | hg19 16:31004756-31004756
hg38 16:30993435-30993435 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000016.9:g.31004756 G>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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6265 |
| CADD Raw score (version 1.3) | 6.352615 (Deleterious) |
| FATHMM raw prediction score | 0.92504 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.07 (Deleterious) |
| PROVEAN score | -2.25 (Tolerated) |
| MetaSVM score | -1.065 (Tolerated) |
| MetaLR score | 0.097 (Tolerated) |
| MCAP score | 0.03 (Deleterious) |
| FitCons score | 0.653 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.48 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.094 |
| Deleterious probability by iFish2 | 0.4223 (Neutral) |
| Deleterious probability by DeFine | 0.9527 (Deleterious) |
| Entrez Gene ID | 112755 (NCBI Gene) |
|---|---|
| Official Gene Symbol | STX1B (GeneCards) |
| Number of variants in STX1B in this database | 1 (view all the variants) |
| Full name | syntaxin 1B |
| Band | 16p11.2 |
| Other IDs | Vega: OTTHUMG00000132391 OMIM: 601485 HGNC: HGNC:18539 Ensembl: ENSG00000099365 |
| Other names | GEFSP9, STX1B1, STX1B2 |
| Summary | The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015] |
| Individual ID | 28867142.19 (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; |