| Variant ID | 29766 |
|---|---|
| Entrez Gene ID | 55601 |
| Gene | DDX60 (GeneCards) |
| Location | hg19 4:169195105-169195105
hg38 4:168273954-168273954 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000004.11:g.169195105 C>G (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1391 |
| CADD Raw score (version 1.3) | 5.140374 (Deleterious) |
| FATHMM raw prediction score | 0.90378 (Tolerated) |
| SIFT score | 0.028 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.997 (Deleterious) |
| MutatioinAssessor score | 1.575 (Tolerated) |
| PROVEAN score | -2.56 (Deleterious) |
| MetaSVM score | -1.177 (Tolerated) |
| MetaLR score | 0.047 (Tolerated) |
| MCAP score | 0.034 (Deleterious) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.98 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.411 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.995 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.206 |
| Deleterious probability by iFish2 | 0.103 (Neutral) |
| Deleterious probability by DeFine | 0.9405 (Deleterious) |
| Entrez Gene ID | 55601 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DDX60 (GeneCards) |
| Number of variants in DDX60 in this database | 2 (view all the variants) |
| Full name | DExD/H-box helicase 60 |
| Band | 4q32.3 |
| Other IDs | Vega: OTTHUMG00000161350 OMIM: 613974 HGNC: HGNC:25942 Ensembl: ENSG00000137628 |
| Other names | None |
| Summary | DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular procsses involving RNA binding and alteration of RNA secondary structure. This gene encodes a DEXD/H box RNA helicase that functions as an antiviral factor and promotes RIG-I-like receptor-mediated signaling. [provided by RefSeq, Apr 2017] |
| Individual ID | 28867142.34 (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; |