| Variant ID | 29480 |
|---|---|
| Entrez Gene ID | 93323 |
| Gene | HAUS8 (GeneCards) |
| Location | hg19 19:17160882-17160882
hg38 19:17050072-17050072 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000019.9:g.17160882 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.8554 |
| CADD Raw score (version 1.3) | -0.350283 (Deleterious) |
| FATHMM raw prediction score | 0.00536 (Tolerated) |
| SIFT score | 1 (Tolerated) |
| LRT score | 0.743 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | -1.3 (Tolerated) |
| PROVEAN score | 0.8 (Tolerated) |
| MetaSVM score | -0.948 (Tolerated) |
| MetaLR score | 0.102 (Tolerated) |
| MCAP score | 0.014 (Tolerated) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -3.4 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.995 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.069 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.575 |
| Deleterious probability by iFish2 | 0.0056 (Neutral) |
| Deleterious probability by DeFine | 0.8889 (Deleterious) |
| Entrez Gene ID | 93323 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HAUS8 (GeneCards) |
| Number of variants in HAUS8 in this database | 1 (view all the variants) |
| Full name | HAUS augmin like complex subunit 8 |
| Band | 19p13.11 |
| Other IDs | Vega: OTTHUMG00000182672 OMIM: 613434 HGNC: HGNC:30532 Ensembl: ENSG00000131351 |
| Other names | DGT4, HICE1, NY-SAR-48 |
| Summary | HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010] |
| Individual ID | 28714951.156 (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; |