| Variant ID | 29756 |
|---|---|
| Entrez Gene ID | 683 |
| Gene | BST1 (GeneCards) |
| Location | hg19 4:15707209-15707209
hg38 4:15705586-15705586 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000004.11:g.15707209 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | 0.4823 |
| CADD Raw score (version 1.3) | 5.012477 (Deleterious) |
| FATHMM raw prediction score | 0.75036 (Tolerated) |
| SIFT score | 0.029 (Deleterious) |
| LRT score | 0.004 (Tolerated) |
| MutationTaster score | 0.916 (Deleterious) |
| MutatioinAssessor score | 2.685 (Deleterious) |
| PROVEAN score | -3.49 (Deleterious) |
| MetaSVM score | -0.956 (Tolerated) |
| MetaLR score | 0.094 (Tolerated) |
| MCAP score | 0.036 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.72 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.102 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.84 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.422 |
| Deleterious probability by iFish2 | 0.9767 (Deleterious) |
| Deleterious probability by DeFine | 0.7649 (Deleterious) |
| Entrez Gene ID | 683 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BST1 (GeneCards) |
| Number of variants in BST1 in this database | 2 (view all the variants) |
| Full name | bone marrow stromal cell antigen 1 |
| Band | 4p15.32 |
| Other IDs | Vega: OTTHUMG00000097739 OMIM: 600387 HGNC: HGNC:1118 Ensembl: ENSG00000109743 |
| Other names | CD157 |
| Summary | Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008] |
| 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; |