| Variant ID | 1109 |
|---|---|
| Entrez Gene ID | 54801 |
| Gene | HAUS6 (GeneCards) |
| Location | hg19 9:19102606-19102606
hg38 9:19102608-19102608 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000009.11:g.19102606 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 15 |
| Amino acid changes in protein | W > * |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8015 |
| CADD Raw score (version 1.3) | 11.220984 (Deleterious) |
| FATHMM raw prediction score | 0.96662 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.733 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.52 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.346 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.365 |
| Deleterious probability by DeFine | 0.9661 (Deleterious) |
| Entrez Gene ID | 54801 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HAUS6 (GeneCards) |
| Number of variants in HAUS6 in this database | 2 (view all the variants) |
| Full name | HAUS augmin like complex subunit 6 |
| Band | 9p22.1 |
| Other IDs | Vega: OTTHUMG00000019622 OMIM: 613433 HGNC: HGNC:25948 Ensembl: ENSG00000147874 |
| Other names | Dgt6, FAM29A |
| Summary | The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |