| Variant ID | 12609 |
|---|---|
| Entrez Gene ID | 157570 |
| Gene | ESCO2 (GeneCards) |
| Location | hg19 8:27633431-27633431
hg38 8:27775914-27775914 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.27633431 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0167 |
| CADD Raw score (version 1.3) | 0.358105 (Deleterious) |
| FATHMM raw prediction score | 0.12279 (Tolerated) |
| Deleterious probability by DeFine | 0.4505 (Neutral) |
| Entrez Gene ID | 157570 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ESCO2 (GeneCards) |
| Number of variants in ESCO2 in this database | 1 (view all the variants) |
| Full name | establishment of sister chromatid cohesion N-acetyltransferase 2 |
| Band | 8p21.1 |
| Other IDs | Vega: OTTHUMG00000163901 OMIM: 609353 HGNC: HGNC:27230 Ensembl: ENSG00000171320 |
| Other names | RBS, EFO2, 2410004I17Rik |
| Summary | This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008] |
| 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; |