| Variant ID | 20109 |
|---|---|
| Entrez Gene ID | 201134 |
| Gene | CEP112 (GeneCards) |
| Location | hg19 17:63919760-63919760
hg38 17:65923642-65923642 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.63919760 G>T (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0066 |
| CADD Raw score (version 1.3) | 0.082458 (Deleterious) |
| FATHMM raw prediction score | 0.11598 (Tolerated) |
| Deleterious probability by DeFine | 0.1864 (Neutral) |
| Entrez Gene ID | 201134 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CEP112 (GeneCards) |
| Number of variants in CEP112 in this database | 10 (view all the variants) |
| Full name | centrosomal protein 112 |
| Band | 17q24.1 |
| Other IDs | Vega: OTTHUMG00000179474 HGNC: HGNC:28514 Ensembl: ENSG00000154240 |
| Other names | CCDC46, MACOCO |
| Summary | This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] |
| Individual ID | 29217584.17 (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; |