| Variant ID | 23877 |
|---|---|
| Entrez Gene ID | 23450 |
| Gene | SF3B3 (GeneCards) |
| Location | hg19 16:70586782-70586782
hg38 16:70552879-70552879 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000016.9:g.70586782 G>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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0984 |
| CADD Raw score (version 1.3) | 0.460379 (Deleterious) |
| FATHMM raw prediction score | 0.19556 (Tolerated) |
| Deleterious probability by DeFine | 0.2319 (Neutral) |
| Entrez Gene ID | 23450 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SF3B3 (GeneCards) |
| Number of variants in SF3B3 in this database | 2 (view all the variants) |
| Full name | splicing factor 3b subunit 3 |
| Band | 16q22.1 |
| Other IDs | Vega: OTTHUMG00000137582 OMIM: 605592 HGNC: HGNC:10770 Ensembl: ENSG00000189091 |
| Other names | RSE1, SAP130, SF3b130, STAF130 |
| Summary | This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [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; |