| Variant ID | 8608 |
|---|---|
| Entrez Gene ID | 57472 |
| Gene | CNOT6 (GeneCards) |
| Location | hg19 5:179958141-179958141
hg38 5:180531141-180531141 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.179958141 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4002 |
| CADD Raw score (version 1.3) | -0.061773 (Deleterious) |
| FATHMM raw prediction score | 0.05612 (Tolerated) |
| Deleterious probability by DeFine | 0.2514 (Neutral) |
| Entrez Gene ID | 57472 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CNOT6 (GeneCards) |
| Number of variants in CNOT6 in this database | 1 (view all the variants) |
| Full name | CCR4-NOT transcription complex subunit 6 |
| Band | 5q35.3 |
| Other IDs | Vega: OTTHUMG00000130935 OMIM: 608951 HGNC: HGNC:14099 Ensembl: ENSG00000113300 |
| Other names | CCR4, Ccr4a |
| Summary | This gene encodes the catalytic component of the CCR4-NOT core transcriptional regulation complex. The encoded protein has a 3'-5' RNase activity and prefers polyadenylated substrates. The CCR4-NOT complex plays a role in many cellular processes, including miRNA-mediated repression, mRNA degradation, and transcriptional regulation. [provided by RefSeq, Dec 2014] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |