PGBD1
piggyBac transposable element derived 1
Summary
The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. This gene product is specifically expressed in the brain, however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2010]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1778477 | 6:28,248,594 | A/T | upstream gene variant | — |
| rs34878803 | 6:28,250,179 | T/C | downstream gene variant | — |
| rs34396849 | 6:28,250,955 | A/C | regulatory region variant | — |
| rs145687745 | 6:28,251,595 | A/G | — | uncertain significance |
| rs114802814 | 6:28,251,693 | G/A | — | likely benign |
| rs749803309 | 6:28,251,921 | A/T | — | uncertain significance |
| rs1404692424 | 6:28,251,922 | G/T | — | uncertain significance |
| rs2481367461 | 6:28,253,437 | A/G | — | uncertain significance |
| rs2481372632 | 6:28,254,880 | C/T | — | uncertain significance |
| rs763383294 | 6:28,254,890 | A/G | — | uncertain significance |
| rs13211507 | 6:28,257,377 | T/C | intron variant | — |
| rs140909568 | 6:28,264,594 | C/G | — | uncertain significance |
| rs140761201 | 6:28,264,629 | G/A | — | uncertain significance |
| rs372388049 | 6:28,264,677 | T/C | — | uncertain significance |
| rs3800324 | 6:28,264,681 | G/A | missense variant | — |
| rs747456796 | 6:28,265,684 | T/A | — | uncertain significance |
| rs781781322 | 6:28,265,698 | T/G | — | uncertain significance |
| rs115837789 | 6:28,266,575 | G/A | intron variant | — |
| rs373880207 | 6:28,268,512 | C/T | — | likely benign |
| rs1409933294 | 6:28,268,520 | C/T | — | uncertain significance |
| rs759410392 | 6:28,268,530 | C/T | — | uncertain significance |
| rs1296330337 | 6:28,268,533 | C/T | — | uncertain significance |
| rs377211662 | 6:28,268,578 | A/G | — | uncertain significance |
| rs148252586 | 6:28,268,667 | G/A | — | benign |
| rs141451644 | 6:28,268,683 | G/T | — | uncertain significance |
| rs372484685 | 6:28,268,757 | G/A | — | uncertain significance |
| rs1438051913 | 6:28,268,844 | C/G | — | uncertain significance |
| rs779054556 | 6:28,268,874 | G/A | — | uncertain significance |
| rs759958544 | 6:28,268,925 | T/C | — | uncertain significance |
| rs573346581 | 6:28,269,018 | G/A | — | uncertain significance |
| rs2481419552 | 6:28,269,201 | C/A | — | uncertain significance |
| rs764067556 | 6:28,269,331 | G/T | — | uncertain significance |
| rs151181559 | 6:28,269,416 | T/G | — | uncertain significance |
| rs773434590 | 6:28,269,446 | T/G | — | uncertain significance |
| rs143963445 | 6:28,269,462 | G/A | — | uncertain significance |
| rs1344542727 | 6:28,269,476 | A/T | — | uncertain significance |
| rs2481421070 | 6:28,269,557 | G/T | — | uncertain significance |
| rs759117876 | 6:28,269,622 | A/G | — | uncertain significance |
| rs148884952 | 6:28,269,661 | G/A | — | likely benign |
| rs1762861788 | 6:28,269,777 | G/T | — | uncertain significance |
| rs200075250 | 6:28,269,859 | A/T | — | uncertain significance |
| rs764487461 | 6:28,269,865 | T/A | — | uncertain significance |
| rs115398017 | 6:28,269,869 | T/C | — | benign |
| rs143300150 | 6:28,270,021 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.