| Variant ID | 29237 |
|---|---|
| Entrez Gene ID | 11169 |
| Gene | WDHD1 (GeneCards) |
| Location | hg19 14:55467613-55467613
hg38 14:55000895-55000895 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000014.8:g.55467613 C>T (Genome Assembly: GRCh37) |
| 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6086 |
| CADD Raw score (version 1.3) | 6.556526 (Deleterious) |
| FATHMM raw prediction score | 0.97849 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.39 (Deleterious) |
| PROVEAN score | -5.83 (Deleterious) |
| MetaSVM score | -0.209 (Tolerated) |
| MetaLR score | 0.461 (Tolerated) |
| MCAP score | 0.12 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.24 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.513 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.193 |
| Deleterious probability by iFish2 | 0.0031 (Neutral) |
| Deleterious probability by DeFine | 0.9515 (Deleterious) |
| Entrez Gene ID | 11169 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WDHD1 (GeneCards) |
| Number of variants in WDHD1 in this database | 1 (view all the variants) |
| Full name | WD repeat and HMG-box DNA binding protein 1 |
| Band | 14q22.2-q22.3 |
| Other IDs | Vega: OTTHUMG00000140304 OMIM: 608126 HGNC: HGNC:23170 Ensembl: ENSG00000198554 |
| Other names | AND1, CTF4, AND-1, CHTF4 |
| Summary | The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.114 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |