PES1
pescadillo ribosomal biogenesis factor 1
Summary
This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs80018848 | 22:30,973,075 | C/T | — | benign |
| rs568166730 | 22:30,973,777 | C/T | — | — |
| rs375244457 | 22:30,974,879 | C/T | — | uncertain significance |
| rs139112920 | 22:30,975,162 | G/C | — | uncertain significance |
| rs1477313905 | 22:30,975,222 | C/T | — | uncertain significance |
| rs781219620 | 22:30,975,281 | T/C | — | uncertain significance |
| rs139824084 | 22:30,975,745 | C/A | — | uncertain significance |
| rs1035694104 | 22:30,975,749 | C/T | — | uncertain significance |
| rs774519435 | 22:30,975,752 | C/T | — | uncertain significance |
| rs368872913 | 22:30,975,816 | A/G | — | uncertain significance |
| rs150958950 | 22:30,975,864 | C/T | — | uncertain significance |
| rs533040622 | 22:30,976,046 | A/G | — | uncertain significance |
| rs763142101 | 22:30,976,095 | G/A | — | likely benign |
| rs142191938 | 22:30,976,097 | G/A | — | uncertain significance |
| rs766314798 | 22:30,976,121 | C/A | — | uncertain significance |
| rs759466296 | 22:30,976,645 | G/A | — | uncertain significance |
| rs149639037 | 22:30,976,678 | G/A | — | uncertain significance |
| rs144358121 | 22:30,977,001 | C/T | — | uncertain significance |
| rs2108110 | 22:30,977,014 | C/G | — | uncertain significance |
| rs1391406945 | 22:30,977,347 | C/T | — | uncertain significance |
| rs766462079 | 22:30,977,349 | T/C | — | uncertain significance |
| rs145353108 | 22:30,977,392 | C/T | — | uncertain significance |
| rs776063384 | 22:30,977,519 | G/A | — | uncertain significance |
| rs753455922 | 22:30,977,553 | G/A | — | uncertain significance |
| rs535634415 | 22:30,980,425 | T/C | — | uncertain significance |
| rs145580387 | 22:30,980,538 | G/A | — | uncertain significance |
| rs781087534 | 22:30,980,546 | C/T | — | uncertain significance |
| rs2517862676 | 22:30,980,582 | A/G | — | uncertain significance |
| rs765787235 | 22:30,980,585 | C/T | — | uncertain significance |
| rs545460660 | 22:30,980,630 | G/A | — | uncertain significance |
| rs141115125 | 22:30,980,679 | G/A | — | uncertain significance |
| rs201361163 | 22:30,983,312 | T/C | — | uncertain significance |
| rs747591725 | 22:30,983,343 | C/T | — | uncertain significance |
| rs376188573 | 22:30,984,010 | T/G | — | uncertain significance |
| rs2087118100 | 22:30,984,016 | C/T | — | uncertain significance |
| rs143909198 | 22:30,984,018 | C/T | — | uncertain significance |
| rs2517867877 | 22:30,984,040 | C/T | — | likely benign |
| rs748632991 | 22:30,984,091 | T/C | — | uncertain significance |
| rs764956167 | 22:30,984,139 | T/C | — | uncertain significance |
| rs770724092 | 22:30,985,211 | C/T | — | uncertain significance |
| rs762686647 | 22:30,985,226 | G/A | — | uncertain significance |
| rs529713663 | 22:30,985,250 | C/T | — | uncertain significance |
| rs57016637 | 22:30,992,925 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.