| Variant ID | 29345 |
|---|---|
| Entrez Gene ID | 1269 |
| Gene | CNR2 (GeneCards) |
| Location | hg19 1:24201929-24201929
hg38 1:23875439-23875439 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.24201929 G>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3288 |
| CADD Raw score (version 1.3) | 3.876187 (Deleterious) |
| FATHMM raw prediction score | 0.83529 (Tolerated) |
| SIFT score | 0.025 (Deleterious) |
| LRT score | 0.224 (Tolerated) |
| MutationTaster score | 0.979 (Deleterious) |
| MutatioinAssessor score | 1.585 (Tolerated) |
| PROVEAN score | -0.85 (Tolerated) |
| MetaSVM score | -0.881 (Tolerated) |
| MetaLR score | 0.161 (Tolerated) |
| MCAP score | 0.028 (Deleterious) |
| FitCons score | 0.461 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.13 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.124 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.431 |
| Deleterious probability by iFish2 | 0.6666 (Deleterious) |
| Deleterious probability by DeFine | 0.9208 (Deleterious) |
| Entrez Gene ID | 1269 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CNR2 (GeneCards) |
| Number of variants in CNR2 in this database | 1 (view all the variants) |
| Full name | cannabinoid receptor 2 |
| Band | 1p36.11 |
| Other IDs | Vega: OTTHUMG00000013892 OMIM: 605051 HGNC: HGNC:2160 Ensembl: ENSG00000188822 |
| Other names | CB2, CX5, CB-2 |
| Summary | The cannabinoid delta-9-tetrahydrocannabinol is the principal psychoactive ingredient of marijuana. The proteins encoded by this gene and the cannabinoid receptor 1 (brain) (CNR1) gene have the characteristics of a guanine nucleotide-binding protein (G-protein)-coupled receptor for cannabinoids. They inhibit adenylate cyclase activity in a dose-dependent, stereoselective, and pertussis toxin-sensitive manner. These proteins have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. The cannabinoid receptors are members of family 1 of the G-protein-coupled receptors. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.21 (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; |