EPC1
enhancer of polycomb 1
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]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3740237 | 10:32,557,592 | G/C | downstream gene variant | — |
| rs779431330 | 10:32,560,543 | C/T | — | uncertain significance |
| rs188353527 | 10:32,560,662 | T/C | — | uncertain significance |
| rs747631521 | 10:32,560,681 | T/A | — | uncertain significance |
| rs770496925 | 10:32,560,773 | C/T | — | uncertain significance |
| rs144599692 | 10:32,560,812 | G/A | — | uncertain significance |
| rs146679178 | 10:32,560,969 | C/T | — | uncertain significance |
| rs1328612897 | 10:32,560,993 | C/T | — | uncertain significance |
| rs766048312 | 10:32,561,977 | G/A | — | uncertain significance |
| rs150143347 | 10:32,562,144 | C/T | — | uncertain significance |
| rs191479103 | 10:32,573,700 | C/T | — | uncertain significance |
| rs1251345121 | 10:32,573,826 | C/T | — | uncertain significance |
| rs552963023 | 10:32,573,874 | T/C | — | uncertain significance |
| rs375175947 | 10:32,573,915 | C/T | — | uncertain significance |
| rs1251911180 | 10:32,573,937 | A/C | — | uncertain significance |
| rs2538315778 | 10:32,575,746 | A/G | — | uncertain significance |
| rs767835660 | 10:32,575,890 | A/T | — | uncertain significance |
| rs1836730536 | 10:32,576,043 | C/T | — | uncertain significance |
| rs755511625 | 10:32,580,159 | G/C | — | uncertain significance |
| rs374241184 | 10:32,580,161 | A/G | — | uncertain significance |
| rs748526235 | 10:32,580,165 | T/C | — | uncertain significance |
| rs761699668 | 10:32,580,189 | T/C | — | likely benign |
| rs868278793 | 10:32,581,431 | C/T | — | uncertain significance |
| rs2538344681 | 10:32,581,930 | T/C | — | uncertain significance |
| rs2538348929 | 10:32,582,636 | A/G | — | uncertain significance |
| rs76164690 | 10:32,590,362 | T/G | intron variant | — |
| rs149064226 | 10:32,600,054 | C/G | — | — |
| rs143713361 | 10:32,625,018 | C/T | intron variant | — |
| rs77706860 | 10:32,628,537 | C/A | — | — |
| rs2370759 | 10:32,634,972 | G/A | regulatory region variant | — |
| rs2538545223 | 10:32,635,797 | G/A | — | uncertain significance |
| rs11597888 | 10:32,635,834 | G/T | missense variant | — |
| rs11592205 | 10:32,646,499 | C/T | intron variant | — |
| rs11598602 | 10:32,667,121 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.