| Variant ID | 29152 |
|---|---|
| Entrez Gene ID | 23450 |
| Gene | SF3B3 (GeneCards) |
| Location | hg19 16:70578434-70578434
hg38 16:70544531-70544531 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000016.9:g.70578434 G>A (Genome Assembly: GRCh37) |
| 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 | 0.9201 |
| CADD Raw score (version 1.3) | 6.881311 (Deleterious) |
| FATHMM raw prediction score | 0.99826 (Tolerated) |
| SIFT score | 0.023 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.38 (Deleterious) |
| PROVEAN score | -3.12 (Deleterious) |
| MetaSVM score | -0.333 (Tolerated) |
| MetaLR score | 0.361 (Tolerated) |
| MCAP score | 0.054 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.08 |
| PhyloP score based on multiple alignment of 100 vertebrates | 10.003 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.663 |
| Deleterious probability by iFish2 | 0.998 (Deleterious) |
| Deleterious probability by DeFine | 0.9604 (Deleterious) |
| 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 | 28503910.29 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |