| Variant ID | 29623 |
|---|---|
| Entrez Gene ID | 1408 |
| Gene | CRY2 (GeneCards) |
| Location | hg19 11:45891282-45891282
hg38 11:45869731-45869731 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.45891282 G>A (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 |
|---|---|
| EIGEN score | 1.1867 |
| CADD Raw score (version 1.3) | 6.459288 (Deleterious) |
| FATHMM raw prediction score | 0.98063 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.57 (Deleterious) |
| PROVEAN score | -6 (Deleterious) |
| MetaSVM score | 0.712 (Deleterious) |
| MetaLR score | 0.727 (Deleterious) |
| MCAP score | 0.203 (Deleterious) |
| FitCons score | 0.651 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.99 |
| PhyloP score based on multiple alignment of 100 vertebrates | 10.003 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.478 |
| Deleterious probability by iFish2 | 0.9976 (Deleterious) |
| Deleterious probability by DeFine | 0.9633 (Deleterious) |
| Entrez Gene ID | 1408 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CRY2 (GeneCards) |
| Number of variants in CRY2 in this database | 3 (view all the variants) |
| Full name | cryptochrome circadian regulator 2 |
| Band | 11p11.2 |
| Other IDs | Vega: OTTHUMG00000153225 OMIM: 603732 HGNC: HGNC:2385 Ensembl: ENSG00000121671 |
| Other names | HCRY2, PHLL2 |
| Summary | This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014] |
| Individual ID | 28714951.299 (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; |