| Variant ID | 21438 |
|---|---|
| Entrez Gene ID | 23054 |
| Gene | NCOA6 (GeneCards) |
| Location | hg19 20:33401007-33401007
hg38 20:34813204-34813204 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.33401007 G>A (Genome Assembly: GRCh37) |
| 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2827 |
| CADD Raw score (version 1.3) | 0.061908 (Deleterious) |
| FATHMM raw prediction score | 0.08606 (Tolerated) |
| Deleterious probability by DeFine | 0.0504 (Neutral) |
| Entrez Gene ID | 23054 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NCOA6 (GeneCards) |
| Number of variants in NCOA6 in this database | 4 (view all the variants) |
| Full name | nuclear receptor coactivator 6 |
| Band | 20q11.22 |
| Other IDs | Vega: OTTHUMG00000032311 OMIM: 605299 HGNC: HGNC:15936 Ensembl: ENSG00000198646 |
| Other names | NRC, AIB3, ASC2, PRIP, TRBP, RAP250 |
| Summary | The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcriptional activator functions. This protein has been shown to be involved in the hormone-dependent coactivation of several receptors, including prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid receptors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011] |
| Individual ID | 29217584.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |