| Variant ID | 29626 |
|---|---|
| Entrez Gene ID | 259266 |
| Gene | ASPM (GeneCards) |
| Location | hg19 1:197073712-197073712
hg38 1:197104582-197104582 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.197073712 A>G (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.5982 |
| CADD Raw score (version 1.3) | -1.609341 (Deleterious) |
| FATHMM raw prediction score | 0.01584 (Tolerated) |
| SIFT score | 0.347 (Tolerated) |
| LRT score | 0.083 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0 (Tolerated) |
| PROVEAN score | 0.67 (Tolerated) |
| MetaSVM score | -0.962 (Tolerated) |
| MetaLR score | 0.163 (Tolerated) |
| MCAP score | 0.021 (Tolerated) |
| FitCons score | 0.563 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -6.41 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.049 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.537 |
| Deleterious probability by iFish2 | 0.0196 (Neutral) |
| Deleterious probability by DeFine | 0.7143 (Deleterious) |
| Entrez Gene ID | 259266 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ASPM (GeneCards) |
| Number of variants in ASPM in this database | 2 (view all the variants) |
| Full name | abnormal spindle microtubule assembly |
| Band | 1q31.3 |
| Other IDs | Vega: OTTHUMG00000036277 OMIM: 605481 HGNC: HGNC:19048 Ensembl: ENSG00000066279 |
| Other names | ASP, MCPH5, Calmbp1 |
| Summary | This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011] |
| Individual ID | 28714951.302 (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; |