CIC
capicua transcriptional repressor
Summary
The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in DNA binding and nuclear localization, and a conserved C-terminus. Studies suggest that the N-terminal region of this protein interacts with Atxn1 (GeneID:6310), to form a transcription repressor complex, and in vitro studies suggest that polyglutamine-expansion of ATXN1 may alter the repressor activity of this complex. Mutations in this gene have been associated with olidogdendrogliomas (PMID:21817013). In addition, translocation events resulting in gene fusions of this gene with both DUX4 (GeneID:100288687) and FOXO4 (GeneID:4303) have been associated with round cell sarcomas. There are multiple pseudogenes of this gene found on chromosomes 1, 4, 6, 7, 16, 20, and the Y chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
Known Variants505 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs851613 | 19:42,771,158 | C/T | — | — |
| rs962567889 | 19:42,775,985 | G/T | — | uncertain significance |
| rs778531867 | 19:42,776,000 | C/T | — | likely benign |
| rs1047691694 | 19:42,776,027 | G/A | — | uncertain significance |
| rs2513589983 | 19:42,776,029 | C/T | — | uncertain significance |
| rs2513590260 | 19:42,776,050 | A/C | — | uncertain significance |
| rs1044899707 | 19:42,776,068 | G/A | — | conflicting classifications of pathogenicity |
| rs993784727 | 19:42,776,070 | C/T | — | likely benign |
| rs117565967 | 19:42,776,071 | G/A | — | likely benign |
| rs370924769 | 19:42,776,097 | C/T | — | likely benign |
| rs772725296 | 19:42,776,098 | G/A | — | uncertain significance |
| rs2036806868 | 19:42,776,111 | C/G | — | uncertain significance |
| rs1317303291 | 19:42,776,133 | G/T | — | uncertain significance |
| rs188464728 | 19:42,776,141 | G/A | — | uncertain significance |
| rs1282025666 | 19:42,776,161 | C/A | — | uncertain significance |
| rs538298870 | 19:42,776,184 | C/T | — | likely benign |
| rs1161854783 | 19:42,776,190 | G/A | — | likely benign |
| rs539540626 | 19:42,776,216 | A/G | — | conflicting classifications of pathogenicity |
| rs1018467991 | 19:42,776,237 | G/A | — | likely benign |
| rs2513592614 | 19:42,776,240 | G/A | — | uncertain significance |
| rs1394375990 | 19:42,776,329 | G/C | — | uncertain significance |
| rs529183042 | 19:42,776,354 | G/A | — | likely benign |
| rs1201027582 | 19:42,776,360 | G/A | — | uncertain significance |
| rs536081766 | 19:42,776,406 | C/A | — | likely benign |
| rs1054519294 | 19:42,776,442 | C/T | — | likely benign |
| rs181097578 | 19:42,776,454 | G/A | — | likely benign |
| rs2513595051 | 19:42,776,478 | G/T | — | uncertain significance |
| rs543498277 | 19:42,776,500 | C/A | — | likely benign |
| rs564911507 | 19:42,776,507 | G/A | — | conflicting classifications of pathogenicity |
| rs547565552 | 19:42,776,512 | A/T | — | conflicting classifications of pathogenicity |
| rs1599847765 | 19:42,776,529 | C/T | — | uncertain significance |
| rs1599847821 | 19:42,776,551 | C/T | — | uncertain significance |
| rs2513595825 | 19:42,776,567 | G/A | — | uncertain significance |
| rs553376261 | 19:42,776,589 | G/A | — | likely benign |
| rs1202526727 | 19:42,776,599 | C/T | — | uncertain significance |
| rs2513597130 | 19:42,776,712 | C/A | — | likely benign |
| rs1449982993 | 19:42,776,728 | G/A | — | uncertain significance |
| rs1191474182 | 19:42,776,779 | C/T | — | uncertain significance |
| rs886934809 | 19:42,776,903 | G/A | — | uncertain significance |
| rs2147013536 | 19:42,776,932 | C/T | — | uncertain significance |
| rs1283116229 | 19:42,776,933 | G/A | — | uncertain significance |
| rs1223108405 | 19:42,776,943 | A/G | — | likely benign |
| rs1013392127 | 19:42,776,956 | C/T | — | uncertain significance |
| rs2036836931 | 19:42,776,960 | C/A | — | uncertain significance |
| rs1599849219 | 19:42,777,151 | C/T | — | uncertain significance |
| rs2513602570 | 19:42,777,227 | T/C | — | uncertain significance |
| rs1473397823 | 19:42,777,231 | G/A | — | likely benign |
| rs886819619 | 19:42,777,237 | C/T | — | likely benign |
| rs2036846235 | 19:42,777,250 | G/A | — | uncertain significance |
| rs2036846589 | 19:42,777,259 | T/G | — | uncertain significance |
| rs771292827 | 19:42,777,261 | G/A | — | likely benign |
| rs957357580 | 19:42,777,293 | G/A | — | uncertain significance |
| rs1013364453 | 19:42,777,304 | G/A | — | uncertain significance |
| rs912705630 | 19:42,777,332 | C/T | — | uncertain significance |
| rs2036851137 | 19:42,777,350 | C/T | — | uncertain significance |
| rs2036851373 | 19:42,777,354 | A/G | — | likely benign |
| rs536777917 | 19:42,777,363 | C/T | — | likely benign |
| rs2036852027 | 19:42,777,366 | C/A | — | likely benign |
| rs2513604621 | 19:42,777,384 | G/C | — | uncertain significance |
| rs2513604960 | 19:42,777,430 | G/A | — | uncertain significance |
| rs2036853720 | 19:42,777,507 | C/T | — | likely benign |
| rs2147018633 | 19:42,777,517 | C/T | — | likely pathogenic |
| rs1190369184 | 19:42,777,552 | G/A | — | likely benign |
| rs2513605489 | 19:42,777,555 | T/G | — | likely benign |
| rs558660943 | 19:42,777,563 | C/T | — | likely benign |
| rs576984662 | 19:42,777,564 | G/A | — | likely benign |
| rs189529121 | 19:42,777,573 | C/T | — | likely benign |
| rs1053625942 | 19:42,777,589 | C/T | — | likely benign |
| rs139892484 | 19:42,777,603 | G/A | — | benign |
| rs1344969760 | 19:42,777,626 | C/T | — | uncertain significance |
| rs572653812 | 19:42,777,627 | G/A | — | likely benign |
| rs2147020089 | 19:42,777,671 | C/G | — | uncertain significance |
| rs1019731368 | 19:42,777,675 | G/A | — | likely benign |
| rs975540618 | 19:42,777,720 | C/A | — | uncertain significance |
| rs1027164921 | 19:42,777,735 | C/T | — | uncertain significance |
| rs1289782840 | 19:42,777,736 | G/A | — | uncertain significance |
| rs2036862975 | 19:42,777,763 | C/T | — | uncertain significance |
| rs2036863074 | 19:42,777,764 | G/A | — | uncertain significance |
| rs1181912349 | 19:42,777,804 | G/A | — | likely benign |
| rs926431641 | 19:42,777,840 | A/G | — | likely benign |
| rs2036866760 | 19:42,777,910 | C/T | — | likely benign |
| rs2513608727 | 19:42,777,933 | C/T | — | likely benign |
| rs543540678 | 19:42,777,948 | C/T | — | likely benign |
| rs532437499 | 19:42,777,957 | G/A | — | likely benign |
| rs2513609270 | 19:42,777,987 | A/C | — | likely benign |
| rs1226173234 | 19:42,778,053 | C/T | — | likely benign |
| rs2513610268 | 19:42,778,072 | C/T | — | uncertain significance |
| rs529982916 | 19:42,778,095 | G/A | — | likely benign |
| rs970794792 | 19:42,778,117 | C/T | — | uncertain significance |
| rs959084837 | 19:42,778,140 | C/A | — | likely benign |
| rs1273579690 | 19:42,778,144 | C/T | — | uncertain significance |
| rs1008819834 | 19:42,778,219 | G/T | — | uncertain significance |
| rs2513611892 | 19:42,778,243 | G/T | — | uncertain significance |
| rs996916154 | 19:42,778,264 | C/T | — | uncertain significance |
| rs1048537539 | 19:42,778,297 | C/T | — | uncertain significance |
| rs2036883719 | 19:42,778,333 | C/T | — | likely pathogenic |
| rs1193038690 | 19:42,778,334 | G/A | — | uncertain significance |
| rs1033110275 | 19:42,778,341 | G/A | — | likely benign |
| rs775387226 | 19:42,778,403 | A/G | — | likely benign |
| rs1290889234 | 19:42,778,429 | G/A | — | uncertain significance |
Showing 100 of 505 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.