| Variant ID | 29195 |
|---|---|
| Entrez Gene ID | 53630 |
| Gene | BCO1 (GeneCards) |
| Location | hg19 16:81295822-81295822
hg38 16:81262217-81262217 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000016.9:g.81295822 C>T (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 | 1.3882 |
| CADD Raw score (version 1.3) | 1.323254 (Deleterious) |
| FATHMM raw prediction score | 0.97139 (Tolerated) |
| Deleterious probability by DeFine | 0.8923 (Deleterious) |
| Entrez Gene ID | 53630 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BCO1 (GeneCards) |
| Number of variants in BCO1 in this database | 3 (view all the variants) |
| Full name | beta-carotene oxygenase 1 |
| Band | 16q23.2 |
| Other IDs | Vega: OTTHUMG00000137630 OMIM: 605748 HGNC: HGNC:13815 Ensembl: ENSG00000135697 |
| Other names | BCO, BCDO, BCMO, BCDO1, BCMO1 |
| Summary | Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.72 (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; |