SETMAR
SET and mariner transposase domain methyltransferase
Summary
This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2470474945 | 3:4,345,077 | C/G | — | uncertain significance |
| rs762853375 | 3:4,345,082 | C/T | — | uncertain significance |
| rs756322943 | 3:4,345,097 | G/A | — | uncertain significance |
| rs1698031791 | 3:4,345,121 | G/A | — | uncertain significance |
| rs2470476881 | 3:4,345,169 | G/A | — | uncertain significance |
| rs2470476896 | 3:4,345,170 | T/G | — | uncertain significance |
| rs970883416 | 3:4,345,178 | T/G | — | uncertain significance |
| rs2470477616 | 3:4,345,205 | T/G | — | uncertain significance |
| rs190540891 | 3:4,345,338 | G/T | regulatory region variant | — |
| rs201233667 | 3:4,354,617 | C/G | — | uncertain significance |
| rs538895566 | 3:4,354,645 | G/A | — | uncertain significance |
| rs769930559 | 3:4,354,664 | C/T | — | uncertain significance |
| rs779189977 | 3:4,354,858 | A/G | — | uncertain significance |
| rs777338915 | 3:4,354,885 | C/T | — | uncertain significance |
| rs759135878 | 3:4,354,904 | C/T | — | uncertain significance |
| rs1002082289 | 3:4,354,922 | G/C | — | uncertain significance |
| rs1316326056 | 3:4,354,958 | T/C | — | uncertain significance |
| rs149944142 | 3:4,355,132 | G/A | — | uncertain significance |
| rs754347407 | 3:4,355,167 | G/A | — | uncertain significance |
| rs780942634 | 3:4,355,188 | G/A | — | uncertain significance |
| rs147660545 | 3:4,355,264 | A/T | — | uncertain significance |
| rs142449470 | 3:4,355,265 | T/C | — | likely benign |
| rs2470554182 | 3:4,355,267 | G/A | — | uncertain significance |
| rs772196355 | 3:4,355,324 | T/A | — | likely benign |
| rs141194209 | 3:4,355,347 | G/A | — | uncertain significance |
| rs2470555654 | 3:4,355,392 | A/C | — | uncertain significance |
| rs144700571 | 3:4,355,434 | T/A | — | uncertain significance |
| rs2470556122 | 3:4,355,437 | A/G | — | uncertain significance |
| rs147184330 | 3:4,358,102 | A/G | — | likely benign |
| rs149611890 | 3:4,358,138 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.