| Variant ID | 20676 |
|---|---|
| Entrez Gene ID | 55197 |
| Gene | RPRD1A (GeneCards) |
| Location | hg19 18:33666332-33666332
hg38 18:36086369-36086369 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.33666332 C>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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2656 |
| CADD Raw score (version 1.3) | 0.383994 (Deleterious) |
| FATHMM raw prediction score | 0.11642 (Tolerated) |
| Deleterious probability by DeFine | 0.1001 (Neutral) |
| Entrez Gene ID | 55197 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RPRD1A (GeneCards) |
| Number of variants in RPRD1A in this database | 4 (view all the variants) |
| Full name | regulation of nuclear pre-mRNA domain containing 1A |
| Band | 18q12.2 |
| Other IDs | Vega: OTTHUMG00000132591 OMIM: 610347 HGNC: HGNC:25560 Ensembl: ENSG00000141425 |
| Other names | P15RS, HsT3101 |
| Summary | This gene encodes a cell-cycle and transcription regulatory protein. The encoded protein interacts with the cell cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a negative regulator of G(1)/S phase progression. This protein also forms homo- and hetrodimers with the protein, regulation of nuclear pre-mRNA domain-containing protein 1B, to form a scaffold that interacts with the C-terminal domain of RNA polymerase II subunit B1 and regulates several aspects of transcription. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 16. [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; |