| Variant ID | 29479 |
|---|---|
| Entrez Gene ID | 23054 |
| Gene | NCOA6 (GeneCards) |
| Location | hg19 20:33330216-33330216
hg38 20:34742412-34742412 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000020.10:g.33330216 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.668 |
| CADD Raw score (version 1.3) | 4.795115 (Deleterious) |
| FATHMM raw prediction score | 0.97251 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.16 (Deleterious) |
| PROVEAN score | -1.08 (Tolerated) |
| MetaSVM score | -1.028 (Tolerated) |
| MetaLR score | 0.164 (Tolerated) |
| MCAP score | 0.014 (Tolerated) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.98 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.905 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.456 |
| Deleterious probability by iFish2 | 0.7473 (Deleterious) |
| Deleterious probability by DeFine | 0.9429 (Deleterious) |
| 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 | 28714951.155 (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; |