| Variant ID | 29209 |
|---|---|
| Entrez Gene ID | 63035 |
| Gene | BCORL1 (GeneCards) |
| Location | hg19 X:129149138-129149138
hg38 X:130015162-130015162 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000023.10:g.129149138 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 4.356897 (Deleterious) |
| FATHMM raw prediction score | 0.95102 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0.001 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.695 (Tolerated) |
| PROVEAN score | -1.6 (Tolerated) |
| MetaSVM score | -0.505 (Tolerated) |
| MetaLR score | 0.277 (Tolerated) |
| MCAP score | 0.086 (Deleterious) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.06 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.991 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.618 |
| Deleterious probability by iFish2 | 0.3901 (Deleterious) |
| Deleterious probability by DeFine | 0.9676 (Deleterious) |
| Entrez Gene ID | 63035 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BCORL1 (GeneCards) |
| Number of variants in BCORL1 in this database | 1 (view all the variants) |
| Full name | BCL6 corepressor like 1 |
| Band | Xq26.1 |
| Other IDs | Vega: OTTHUMG00000022379 OMIM: 300688 HGNC: HGNC:25657 Ensembl: ENSG00000085185 |
| Other names | BCoR-L1, CXorf10 |
| Summary | The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] |
| Individual ID | 28503910.85 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |