| Variant ID | 29683 |
|---|---|
| Entrez Gene ID | 79446 |
| Gene | WDR25 (GeneCards) |
| Location | hg19 14:100996272-100996272
hg38 14:100529935-100529935 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000014.8:g.100996272 C>T (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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5523 |
| CADD Raw score (version 1.3) | 1.703223 (Deleterious) |
| FATHMM raw prediction score | 0.83155 (Tolerated) |
| SIFT score | 0.044 (Deleterious) |
| LRT score | 0.006 (Tolerated) |
| MutationTaster score | 0.995 (Deleterious) |
| MutatioinAssessor score | 2.405 (Deleterious) |
| PROVEAN score | -2.88 (Deleterious) |
| MetaSVM score | -0.825 (Tolerated) |
| MetaLR score | 0.191 (Tolerated) |
| MCAP score | 0.079 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.98 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.913 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.728 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.458 |
| Deleterious probability by iFish2 | 0.0413 (Neutral) |
| Deleterious probability by DeFine | 0.9306 (Deleterious) |
| Entrez Gene ID | 79446 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WDR25 (GeneCards) |
| Number of variants in WDR25 in this database | 3 (view all the variants) |
| Full name | WD repeat domain 25 |
| Band | 14q32.2 |
| Other IDs | Vega: OTTHUMG00000171585 HGNC: HGNC:21064 Ensembl: ENSG00000176473 |
| Other names | C14orf67 |
| Summary | This gene encodes a protein containing 7 WD repeats. WD repeats are approximately 30 to 40-amino acid domains containing several conserved residues, typically having a Tryptophan-Aspartic acid dipeptide (WD) at the C-terminal end. WD domains are involved in protein-protein interactions in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017] |
| Individual ID | 28714951.359 (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; |