| Variant ID | 13909 |
|---|---|
| Entrez Gene ID | 80314 |
| Gene | EPC1 (GeneCards) |
| Location | hg19 10:32578574-32578574
hg38 10:32289646-32289646 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.32578574 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003438 |
|---|---|
| EIGEN score | -0.3751 |
| CADD Raw score (version 1.3) | -0.071553 (Deleterious) |
| FATHMM raw prediction score | 0.06766 (Tolerated) |
| Deleterious probability by DeFine | 0.0801 (Neutral) |
| Entrez Gene ID | 80314 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EPC1 (GeneCards) |
| Number of variants in EPC1 in this database | 2 (view all the variants) |
| Full name | enhancer of polycomb homolog 1 |
| Band | 10p11.22 |
| Other IDs | Vega: OTTHUMG00000017925 OMIM: 610999 HGNC: HGNC:19876 Ensembl: ENSG00000120616 |
| Other names | Epl1 |
| Summary | This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |