CPSF1
cleavage and polyadenylation specific factor 1
Summary
Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]
Known Variants96 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs552968665 | 8:145,617,992 | G/C | missense variant | — |
| rs546616154 | 8:145,618,558 | G/A | — | uncertain significance |
| rs1287970773 | 8:145,618,669 | T/C | — | uncertain significance |
| rs1554862093 | 8:145,618,744 | G/T | — | uncertain significance |
| rs1554862101 | 8:145,618,762 | T/G | — | uncertain significance |
| rs782555528 | 8:145,618,807 | T/C | — | pathogenic |
| rs781988556 | 8:145,618,904 | C/T | — | uncertain significance |
| rs1253104285 | 8:145,618,920 | C/T | — | uncertain significance |
| rs375489571 | 8:145,619,158 | C/T | — | uncertain significance |
| rs782548508 | 8:145,619,203 | C/T | — | uncertain significance |
| rs782315301 | 8:145,619,220 | C/T | — | uncertain significance |
| rs1554862601 | 8:145,619,364 | C/A | — | pathogenic |
| rs141624286 | 8:145,619,493 | T/C | — | uncertain significance |
| rs781796033 | 8:145,619,626 | C/T | — | uncertain significance |
| rs1820574259 | 8:145,619,664 | G/A | — | uncertain significance |
| rs569028050 | 8:145,619,675 | G/C | — | uncertain significance |
| rs202060669 | 8:145,619,686 | C/T | — | uncertain significance |
| rs140031041 | 8:145,619,907 | G/A | — | likely benign |
| rs1554863097 | 8:145,620,162 | G/T | — | uncertain significance |
| rs782790012 | 8:145,620,369 | C/G | — | uncertain significance |
| rs782809828 | 8:145,620,521 | C/T | — | uncertain significance |
| rs201775542 | 8:145,620,542 | G/A | — | uncertain significance |
| rs149597313 | 8:145,620,661 | C/T | missense variant | — |
| rs2537359354 | 8:145,620,664 | G/A | — | uncertain significance |
| rs782156961 | 8:145,620,684 | G/A | — | uncertain significance |
| rs2537359771 | 8:145,620,730 | A/G | — | uncertain significance |
| rs370174395 | 8:145,621,588 | C/T | — | uncertain significance |
| rs374513752 | 8:145,621,589 | G/A | — | uncertain significance |
| rs1820729404 | 8:145,621,619 | A/G | — | uncertain significance |
| rs1035889251 | 8:145,621,645 | A/G | — | uncertain significance |
| rs782338628 | 8:145,621,673 | C/G | — | uncertain significance |
| rs536436984 | 8:145,621,674 | G/A | — | likely benign |
| rs782162243 | 8:145,621,699 | G/A | — | uncertain significance |
| rs1312188698 | 8:145,621,703 | C/T | — | uncertain significance |
| rs576893546 | 8:145,621,866 | G/A | — | uncertain significance |
| rs782135010 | 8:145,621,913 | G/C | — | uncertain significance |
| rs782629802 | 8:145,621,935 | G/T | — | uncertain significance |
| rs150219883 | 8:145,622,101 | T/C | — | uncertain significance |
| rs367620586 | 8:145,622,445 | G/A | — | uncertain significance |
| rs1349975401 | 8:145,622,498 | C/T | — | uncertain significance |
| rs200802095 | 8:145,622,501 | G/A | — | uncertain significance |
| rs1554864340 | 8:145,622,574 | C/G | — | uncertain significance |
| rs1554864354 | 8:145,622,600 | A/G | — | uncertain significance |
| rs782401958 | 8:145,622,607 | G/A | — | uncertain significance |
| rs201892110 | 8:145,622,722 | G/A | — | uncertain significance |
| rs2537372366 | 8:145,622,733 | C/T | — | uncertain significance |
| rs138868227 | 8:145,622,755 | G/A | — | uncertain significance |
| rs2537372569 | 8:145,622,763 | G/A | — | uncertain significance |
| rs2537372603 | 8:145,622,767 | G/A | — | uncertain significance |
| rs781884632 | 8:145,622,773 | G/A | — | uncertain significance |
| rs375638773 | 8:145,622,805 | T/G | — | uncertain significance |
| rs138464912 | 8:145,622,827 | G/A | — | uncertain significance |
| rs190438003 | 8:145,622,838 | T/C | — | uncertain significance |
| rs76611928 | 8:145,622,861 | G/C | — | uncertain significance |
| rs781864837 | 8:145,623,031 | G/A | — | uncertain significance |
| rs782691908 | 8:145,623,052 | C/T | — | uncertain significance |
| rs373537594 | 8:145,623,063 | C/T | — | uncertain significance |
| rs1820870951 | 8:145,623,086 | C/G | — | uncertain significance |
| rs368943655 | 8:145,623,179 | G/A | — | uncertain significance |
| rs1554864690 | 8:145,623,184 | C/A | — | uncertain significance |
| rs782215456 | 8:145,623,210 | G/A | — | uncertain significance |
| rs553389900 | 8:145,623,217 | G/A | — | likely benign |
| rs148200138 | 8:145,623,220 | G/C | — | benign |
| rs1554864712 | 8:145,623,243 | T/C | — | uncertain significance |
| rs1210458451 | 8:145,623,258 | C/T | — | uncertain significance |
| rs781863095 | 8:145,623,266 | A/G | — | uncertain significance |
| rs370546720 | 8:145,623,280 | G/A | — | likely benign |
| rs1586620121 | 8:145,623,728 | G/A | — | pathogenic |
| rs202215574 | 8:145,624,571 | T/C | — | uncertain significance |
| rs140511561 | 8:145,624,751 | G/A | — | uncertain significance |
| rs138429236 | 8:145,624,883 | G/A | — | uncertain significance |
| rs141400443 | 8:145,624,983 | C/T | — | uncertain significance |
| rs1821029311 | 8:145,625,003 | C/T | — | uncertain significance |
| rs145165820 | 8:145,625,009 | G/A | — | uncertain significance |
| rs1226042676 | 8:145,625,030 | G/A | — | uncertain significance |
| rs782264456 | 8:145,625,051 | T/C | — | uncertain significance |
| rs1554865676 | 8:145,625,070 | G/C | — | uncertain significance |
| rs781945806 | 8:145,625,105 | G/A | — | uncertain significance |
| rs1554865719 | 8:145,625,169 | A/C | — | uncertain significance |
| rs368501733 | 8:145,625,185 | C/T | — | uncertain significance |
| rs1554865886 | 8:145,625,424 | A/T | — | uncertain significance |
| rs1251236382 | 8:145,625,454 | A/T | — | uncertain significance |
| rs202180205 | 8:145,625,863 | C/G | — | likely benign |
| rs2537393020 | 8:145,626,149 | A/G | — | uncertain significance |
| rs1821166689 | 8:145,626,317 | C/T | — | likely pathogenic |
| rs782090510 | 8:145,626,385 | G/A | — | uncertain significance |
| rs2537394594 | 8:145,626,427 | C/A | — | uncertain significance |
| rs1406508816 | 8:145,626,432 | C/T | — | uncertain significance |
| rs782015229 | 8:145,626,444 | G/A | — | uncertain significance |
| rs782533294 | 8:145,626,663 | G/T | — | uncertain significance |
| rs1438342815 | 8:145,626,839 | G/A | — | likely benign |
| rs200367486 | 8:145,626,898 | C/T | — | uncertain significance |
| rs1554867286 | 8:145,627,052 | C/A | — | uncertain significance |
| rs782810032 | 8:145,634,403 | G/A | — | uncertain significance |
| rs201769168 | 8:145,634,413 | T/G | — | uncertain significance |
| rs1396406787 | 8:145,634,452 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.