| Variant ID | 11416 |
|---|---|
| Entrez Gene ID | 5001 |
| Gene | ORC5 (GeneCards) |
| Location | hg19 7:103924217-103924217
hg38 7:104283769-104283769 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.103924217 C>G (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0472 |
| CADD Raw score (version 1.3) | -0.228359 (Deleterious) |
| FATHMM raw prediction score | 0.21046 (Tolerated) |
| Deleterious probability by DeFine | 0.3686 (Neutral) |
| Entrez Gene ID | 5001 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ORC5 (GeneCards) |
| Number of variants in ORC5 in this database | 3 (view all the variants) |
| Full name | origin recognition complex subunit 5 |
| Band | 7q22.1-q22.2 |
| Other IDs | Vega: OTTHUMG00000157275 OMIM: 602331 HGNC: HGNC:8491 Ensembl: ENSG00000164815 |
| Other names | ORC5L, ORC5P, ORC5T, PPP1R117 |
| Summary | The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010] |
| 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; |