INTS11
integrator complex subunit 11
Summary
The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs769336712 | 1:1,247,253 | G/C | — | uncertain significance |
| rs146699248 | 1:1,247,302 | G/A | — | benign |
| rs767846766 | 1:1,247,489 | C/T | — | uncertain significance |
| rs12103 | 1:1,247,494 | T/C | synonymous variant | — |
| rs755005813 | 1:1,247,495 | G/C | — | uncertain significance |
| rs1195129808 | 1:1,247,514 | G/A | — | uncertain significance |
| rs977911026 | 1:1,247,519 | T/C | — | uncertain significance |
| rs568445177 | 1:1,247,588 | G/T | — | benign |
| rs1179153155 | 1:1,247,618 | C/T | — | uncertain significance |
| rs759845797 | 1:1,247,627 | C/T | — | uncertain significance |
| rs371579977 | 1:1,247,630 | A/G | — | uncertain significance |
| rs1445198874 | 1:1,247,640 | C/G | — | uncertain significance |
| rs1426005276 | 1:1,247,667 | G/A | — | uncertain significance |
| rs747481892 | 1:1,247,670 | C/T | — | uncertain significance |
| rs759883842 | 1:1,247,673 | G/A | — | uncertain significance |
| rs756911251 | 1:1,247,831 | T/C | — | uncertain significance |
| rs762932977 | 1:1,247,855 | G/A | — | uncertain significance |
| rs369432324 | 1:1,247,866 | G/A | — | uncertain significance |
| rs761702852 | 1:1,247,867 | C/T | — | uncertain significance |
| rs1642274253 | 1:1,247,881 | C/T | — | uncertain significance |
| rs1372449120 | 1:1,247,974 | C/G | — | uncertain significance |
| rs577701965 | 1:1,247,988 | G/A | — | uncertain significance |
| rs764332729 | 1:1,248,028 | G/C | — | uncertain significance |
| rs748015471 | 1:1,248,047 | G/A | — | uncertain significance |
| rs371662193 | 1:1,248,078 | C/G | — | uncertain significance |
| rs2522884935 | 1:1,248,221 | G/A | — | pathogenic |
| rs370145171 | 1:1,248,247 | G/A | — | uncertain significance |
| rs763060722 | 1:1,248,301 | A/G | — | uncertain significance |
| rs143110978 | 1:1,248,323 | C/T | — | uncertain significance |
| rs1163539163 | 1:1,248,435 | C/T | — | uncertain significance |
| rs1642377466 | 1:1,248,947 | A/T | — | uncertain significance |
| rs555104938 | 1:1,248,969 | C/G | — | uncertain significance |
| rs780891309 | 1:1,249,162 | T/C | — | uncertain significance |
| rs12142199 | 1:1,249,187 | A/G | — | benign |
| rs769104260 | 1:1,249,188 | A/C | — | uncertain significance |
| rs780898796 | 1:1,249,222 | T/C | — | uncertain significance |
| rs375241693 | 1:1,249,672 | G/A | — | likely benign |
| rs376785374 | 1:1,249,727 | C/T | — | uncertain significance |
| rs1642478934 | 1:1,250,215 | G/A | — | uncertain significance |
| rs2522917247 | 1:1,250,227 | C/T | — | uncertain significance |
| rs34313161 | 1:1,250,270 | G/C | — | uncertain significance |
| rs12095333 | 1:1,250,318 | G/A | — | benign |
| rs139153962 | 1:1,250,319 | C/T | — | uncertain significance |
| rs779868844 | 1:1,250,320 | G/A | — | uncertain significance |
| rs764233397 | 1:1,250,802 | G/A | — | uncertain significance |
| rs201890171 | 1:1,250,956 | C/T | — | uncertain significance |
| rs780534264 | 1:1,250,958 | T/C | — | uncertain significance |
| rs1379556435 | 1:1,250,991 | T/C | — | uncertain significance |
| rs776024353 | 1:1,250,998 | C/T | — | uncertain significance |
| rs2522975919 | 1:1,254,693 | G/A | — | pathogenic |
| rs753629019 | 1:1,254,774 | C/T | — | uncertain significance |
| rs767166926 | 1:1,254,823 | G/T | — | uncertain significance |
| rs2522978543 | 1:1,254,856 | C/T | — | uncertain significance |
| rs377187685 | 1:1,254,879 | C/T | — | uncertain significance |
| rs2522991521 | 1:1,255,845 | A/G | — | uncertain significance |
| rs779574336 | 1:1,255,873 | C/T | — | uncertain significance |
| rs565670384 | 1:1,255,886 | G/A | — | likely benign |
| rs992635986 | 1:1,256,431 | A/G | — | uncertain significance |
| rs1380311814 | 1:1,256,452 | C/A | — | pathogenic |
| rs781707807 | 1:1,259,966 | G/A | — | uncertain significance |
| rs307348 | 1:1,261,824 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.