| Variant ID | 29363 |
|---|---|
| Entrez Gene ID | 10521 |
| Gene | DDX17 (GeneCards) |
| Location | hg19 22:38884082-38884082
hg38 22:38488077-38488077 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000022.10:g.38884082 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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.0093 |
| CADD Raw score (version 1.3) | 5.826195 (Deleterious) |
| FATHMM raw prediction score | 0.97632 (Tolerated) |
| SIFT score | 0.011 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.835 (Deleterious) |
| PROVEAN score | -7.5 (Deleterious) |
| MetaSVM score | 0.636 (Deleterious) |
| MetaLR score | 0.723 (Deleterious) |
| MCAP score | 0.117 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.25 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.59 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.221 |
| Deleterious probability by iFish2 | 0.8481 (Deleterious) |
| Deleterious probability by DeFine | 0.9662 (Deleterious) |
| Entrez Gene ID | 10521 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DDX17 (GeneCards) |
| Number of variants in DDX17 in this database | 2 (view all the variants) |
| Full name | DEAD-box helicase 17 |
| Band | 22q13.1 |
| Other IDs | Vega: OTTHUMG00000151136 OMIM: 608469 HGNC: HGNC:2740 Ensembl: ENSG00000100201 |
| Other names | P72, RH70 |
| Summary | DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and splicesosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an ATPase activated by a variety of RNA species, but not by dsDNA. This protein, and that encoded by DDX5 gene, are more closely related to each other than to any other member of the DEAD box family. This gene can encode multiple isoforms due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) start codon. [provided by RefSeq, Apr 2011] |
| Individual ID | 28714951.39 (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; |