PVT1
Pvt1 oncogene
Summary
This gene represents a long non-coding RNA locus that has been identified as a candidate oncogene. Increased copy number and overexpression of this gene are associated with many types of cancers including breast and ovarian cancers, acute myeloid leukemia and Hodgkin lymphoma. Allelic variants of this gene are also associated with end-stage renal disease attributed to type 1 diabetes. Consistent with its association with various types of cancer, transcription of this gene is regulated by the tumor suppressor p53 through a canonical p53-binding site, and it has been implicated in regulating levels of the proto-oncogene MYC to promote tumorigenesis. [provided by RefSeq, Sep 2015]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4410871 | 8:128,815,029 | T/C | regulatory region variant | — |
| rs7813776 | 8:128,837,336 | G/A | — | — |
| rs12543944 | 8:128,840,030 | G/C | — | — |
| rs148092436 | 8:128,840,653 | T/C | intron variant | — |
| rs532002204 | 8:128,840,806 | C/T | — | — |
| rs35352864 | 8:128,845,163 | G/C | — | — |
| rs7832014 | 8:128,846,435 | G/A | intron variant | — |
| rs4463382 | 8:128,856,483 | G/C | — | — |
| rs11992068 | 8:128,889,092 | C/T | — | — |
| rs6470589 | 8:128,889,372 | C/A | — | — |
| rs549341413 | 8:128,912,550 | G/A | — | — |
| rs16902460 | 8:128,920,197 | G/A | regulatory region variant | — |
| rs56223526 | 8:128,965,269 | G/A | — | — |
| rs59027521 | 8:128,966,573 | A/G | intron variant | — |
| rs66824612 | 8:128,967,819 | C/T | intron variant | — |
| rs66561647 | 8:128,971,861 | C/A | — | — |
| rs13257657 | 8:128,986,335 | T/C | regulatory region variant | — |
| rs6992123 | 8:128,990,734 | A/C | — | — |
| rs11997631 | 8:129,000,499 | C/T | — | — |
| rs10808564 | 8:129,001,597 | C/T | intron variant | — |
| rs10956401 | 8:129,002,419 | G/A | intron variant | — |
| rs2076899 | 8:129,003,229 | C/G | — | — |
| rs11786130 | 8:129,004,975 | G/A | intron variant | — |
| rs3815871 | 8:129,008,578 | G/A | — | — |
| rs2114358 | 8:129,021,179 | G/A | downstream gene variant | — |
| rs2720709 | 8:129,058,356 | G/C | — | — |
| rs2648875 | 8:129,072,161 | G/T | — | — |
| rs2608053 | 8:129,075,832 | T/G | — | — |
| rs13255292 | 8:129,076,573 | C/T | regulatory region variant | — |
| rs7833298 | 8:129,080,657 | G/C | intron variant | — |
| rs79878267 | 8:129,111,728 | G/A | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.