| Variant ID | 30000 |
|---|---|
| Entrez Gene ID | 7802 |
| Gene | DNALI1 (GeneCards) |
| Location | hg19 1:38023331-38023331
hg38 1:37557730-37557730 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000001.10:g.38023331 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 92 |
| Amino acid changes in protein | N > S |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_003462 |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8546 |
| CADD Raw score (version 1.3) | 5.482234 (Deleterious) |
| FATHMM raw prediction score | 0.97714 (Tolerated) |
| SIFT score | 0.035 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.255 (Deleterious) |
| PROVEAN score | -4.37 (Deleterious) |
| MetaSVM score | -0.198 (Tolerated) |
| MetaLR score | 0.356 (Tolerated) |
| MCAP score | 0.027 (Deleterious) |
| FitCons score | 0.66 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.49 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.019 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.543 |
| Deleterious probability by iFish2 | 0.3708 (Neutral) |
| Deleterious probability by DeFine | 0.9567 (Deleterious) |
| Entrez Gene ID | 7802 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNALI1 (GeneCards) |
| Number of variants in DNALI1 in this database | 2 (view all the variants) |
| Full name | dynein axonemal light intermediate chain 1 |
| Band | 1p34.3 |
| Other IDs | Vega: OTTHUMG00000004222 OMIM: 602135 HGNC: HGNC:14353 Ensembl: ENSG00000163879 |
| Other names | P28, hp28, dJ423B22.5 |
| Summary | This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.224 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Father |
| Phenotype | 2 |
| Number of affected children | 1 |
| 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; |