| Variant ID | 29441 |
|---|---|
| Entrez Gene ID | 7536 |
| Gene | SF1 (GeneCards) |
| Location | hg19 11:64536710-64536710
hg38 11:64769238-64769238 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.64536710 C>T (Genome Assembly: hg19) |
| 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 194070 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.743 |
| CADD Raw score (version 1.3) | 8.185055 (Deleterious) |
| FATHMM raw prediction score | 0.98248 (Tolerated) |
| SIFT score | 0.023 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.995 (Deleterious) |
| PROVEAN score | -3.59 (Deleterious) |
| MetaSVM score | -0.265 (Tolerated) |
| MetaLR score | 0.344 (Tolerated) |
| MCAP score | 0.093 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.92 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.676 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.811 |
| Deleterious probability by iFish2 | 0.2801 (Neutral) |
| Deleterious probability by DeFine | 0.9611 (Deleterious) |
| Entrez Gene ID | 7536 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SF1 (GeneCards) |
| Number of variants in SF1 in this database | 1 (view all the variants) |
| Full name | splicing factor 1 |
| Band | 11q13.1 |
| Other IDs | Vega: OTTHUMG00000066833 OMIM: 601516 HGNC: HGNC:12950 Ensembl: ENSG00000168066 |
| Other names | BBP, MBBP, ZFM1, ZNF162, D11S636, ZCCHC25 |
| Summary | This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence at the 3' splice site, together with the large subunit of U2 auxiliary factor (U2AF), and is required for the early stages of spliceosome assembly. It also plays a role in nuclear pre-mRNA retention and transcriptional repression. The encoded protein contains an N-terminal U2AF ligand motif, a central hnRNP K homology motif and quaking 2 region which bind a key branch-site adenosine within the branch point sequence, a zinc knuckles domain, and a C-terminal proline-rich domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016] |
| Individual ID | 28714951.117 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |