| Variant ID | 19248 |
|---|---|
| Entrez Gene ID | 6095 |
| Gene | RORA (GeneCards) |
| Location | hg19 15:61225031-61225031
hg38 15:60932832-60932832 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.61225031 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4257 |
| CADD Raw score (version 1.3) | 0.367036 (Deleterious) |
| FATHMM raw prediction score | 0.1708 (Tolerated) |
| Deleterious probability by DeFine | 0.7406 (Deleterious) |
| Entrez Gene ID | 6095 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RORA (GeneCards) |
| Number of variants in RORA in this database | 19 (view all the variants) |
| Full name | RAR related orphan receptor A |
| Band | 15q22.2 |
| Other IDs | Vega: OTTHUMG00000132769 OMIM: 600825 HGNC: HGNC:10258 Ensembl: ENSG00000069667 |
| Other names | ROR1, ROR2, ROR3, RZRA, NR1F1, RZR-ALPHA |
| Summary | The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014] |
| Individual ID | 29217584.19 (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; |