| Variant ID | 29538 |
|---|---|
| Entrez Gene ID | 54768 |
| Gene | HYDIN (GeneCards) |
| Location | hg19 16:70926398-70926398
hg38 16:70892495-70892495 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000016.9:g.70926398 T>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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003232 |
|---|---|
| EIGEN score | 0.2081 |
| CADD Raw score (version 1.3) | 5.090447 (Deleterious) |
| FATHMM raw prediction score | 0.79592 (Tolerated) |
| SIFT score | 0.022 (Deleterious) |
| LRT score | 0.004 |
| MutationTaster score | 0.999 (Tolerated) |
| MutatioinAssessor score | 2.175 (Deleterious) |
| PROVEAN score | -3.77 (Deleterious) |
| MetaSVM score | -0.88 (Tolerated) |
| MetaLR score | 0.009 (Tolerated) |
| MCAP score | 0.028 (Deleterious) |
| FitCons score | 0.598 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.69 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.569 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.979 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.727 |
| Deleterious probability by iFish2 | 0.7811 (Deleterious) |
| Deleterious probability by DeFine | 0.9021 (Deleterious) |
| Entrez Gene ID | 54768 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HYDIN (GeneCards) |
| Number of variants in HYDIN in this database | 1 (view all the variants) |
| Full name | HYDIN, axonemal central pair apparatus protein |
| Band | 16q22.2 |
| Other IDs | Vega: OTTHUMG00000137584 OMIM: 610812 HGNC: HGNC:19368 Ensembl: ENSG00000157423 |
| Other names | CILD5, HYDIN1, HYDIN2, PPP1R31 |
| Summary | This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013] |
| Individual ID | 28714951.214 (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; |