| Variant ID | 29710 |
|---|---|
| Entrez Gene ID | 8438 |
| Gene | RAD54L (GeneCards) |
| Location | hg19 1:46726433-46726433
hg38 1:46260761-46260761 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.46726433 G>A (Genome Assembly: hg19) |
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.0003 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs145441107 |
| EIGEN score | 0.2108 |
| CADD Raw score (version 1.3) | 3.580512 (Deleterious) |
| FATHMM raw prediction score | 0.998 (Tolerated) |
| SIFT score | 0.427 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.31 (Tolerated) |
| PROVEAN score | -0.12 (Tolerated) |
| MetaSVM score | 0.064 (Deleterious) |
| MetaLR score | 0.606 (Deleterious) |
| MCAP score | 0.193 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.82 |
| 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 | 20.099 |
| Deleterious probability by iFish2 | 0.9614 (Deleterious) |
| Deleterious probability by DeFine | 0.9654 (Deleterious) |
| Entrez Gene ID | 8438 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RAD54L (GeneCards) |
| Number of variants in RAD54L in this database | 1 (view all the variants) |
| Full name | RAD54 like |
| Band | 1p34.1 |
| Other IDs | Vega: OTTHUMG00000007772 OMIM: 603615 HGNC: HGNC:9826 Ensembl: ENSG00000085999 |
| Other names | HR54, hHR54, RAD54A, hRAD54 |
| Summary | The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008] |
| Individual ID | 28867142.43 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |