| Variant ID | 22842 |
|---|---|
| Entrez Gene ID | 683 |
| Gene | BST1 (GeneCards) |
| Location | hg19 4:15735655-15735655
hg38 4:15734032-15734032 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000004.11:g.15735655 C>A (Genome Assembly: GRCh37) |
| 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1342 |
| CADD Raw score (version 1.3) | 0.92659 (Deleterious) |
| FATHMM raw prediction score | 0.07956 (Tolerated) |
| Deleterious probability by DeFine | 0.1523 (Neutral) |
| 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 | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |