| Variant ID | 29469 |
|---|---|
| Entrez Gene ID | 285753 |
| Gene | CEP57L1 (GeneCards) |
| Location | hg19 6:109477060-109477060
hg38 6:109155857-109155857 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000006.11:g.109477060 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5764 |
| CADD Raw score (version 1.3) | 2.796525 (Deleterious) |
| FATHMM raw prediction score | 0.52267 (Tolerated) |
| SIFT score | 0.537 (Tolerated) |
| LRT score | 0.239 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.78 (Tolerated) |
| PROVEAN score | 0.5 (Tolerated) |
| MetaSVM score | -1.018 (Tolerated) |
| MetaLR score | 0.023 (Tolerated) |
| MCAP score | 0.011 (Tolerated) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.8 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.4 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 2.787 |
| Deleterious probability by iFish2 | 0.3418 (Neutral) |
| Deleterious probability by DeFine | 0.9101 (Deleterious) |
| Entrez Gene ID | 285753 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CEP57L1 (GeneCards) |
| Number of variants in CEP57L1 in this database | 2 (view all the variants) |
| Full name | centrosomal protein 57 like 1 |
| Band | 6q21 |
| Other IDs | Vega: OTTHUMG00000015336 HGNC: HGNC:21561 Ensembl: ENSG00000183137 |
| Other names | cep57R, C6orf182, bA487F23.2 |
| Summary | None |
| Individual ID | 28714951.145 (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; |