| Variant ID | 29498 |
|---|---|
| Entrez Gene ID | 131450 |
| Gene | CD200R1 (GeneCards) |
| Location | hg19 3:112647684-112647684
hg38 3:112928837-112928837 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000003.11:g.112647684 G>C (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0375 |
| CADD Raw score (version 1.3) | 4.395899 (Deleterious) |
| FATHMM raw prediction score | 0.19849 (Tolerated) |
| SIFT score | 0.023 (Deleterious) |
| LRT score | 0.381 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.85 (Deleterious) |
| PROVEAN score | -2.47 (Tolerated) |
| MetaSVM score | -0.941 (Tolerated) |
| MetaLR score | 0.206 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.5 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.82 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.471 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.282 |
| Deleterious probability by iFish2 | 0.5995 (Deleterious) |
| Deleterious probability by DeFine | 0.8046 (Deleterious) |
| Entrez Gene ID | 131450 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CD200R1 (GeneCards) |
| Number of variants in CD200R1 in this database | 3 (view all the variants) |
| Full name | CD200 receptor 1 |
| Band | 3q13.2 |
| Other IDs | Vega: OTTHUMG00000159298 OMIM: 607546 HGNC: HGNC:24235 Ensembl: ENSG00000163606 |
| Other names | OX2R, MOX2R, CD200R, HCRTR2 |
| Summary | This gene encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.174 (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; |