SP140
SP140 nuclear body protein
Summary
This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2470246217 | 2:231,090,587 | A/T | — | uncertain significance |
| rs6716753 | 2:231,097,129 | T/C | intron variant | — |
| rs115618178 | 2:231,101,855 | T/G | — | benign |
| rs778848255 | 2:231,101,947 | G/A | — | uncertain significance |
| rs377627551 | 2:231,102,983 | T/C | — | uncertain significance |
| rs1179778231 | 2:231,103,014 | G/T | — | uncertain significance |
| rs1481417735 | 2:231,103,052 | T/C | — | uncertain significance |
| rs889653281 | 2:231,106,136 | C/T | — | uncertain significance |
| rs189296991 | 2:231,106,154 | G/T | — | uncertain significance |
| rs373687517 | 2:231,106,181 | T/A | — | uncertain significance |
| rs75177776 | 2:231,106,210 | T/C | — | benign |
| rs10201872 | 2:231,106,724 | C/T | intron variant | — |
| rs905223523 | 2:231,108,500 | T/G | — | uncertain significance |
| rs530069391 | 2:231,112,645 | G/A | — | likely benign |
| rs369390360 | 2:231,112,681 | C/G | — | uncertain significance |
| rs371239898 | 2:231,113,616 | A/G | — | likely benign |
| rs34855578 | 2:231,114,990 | C/G | intron variant | — |
| rs9989735 | 2:231,115,454 | G/T | — | — |
| rs1361805196 | 2:231,115,717 | A/G | — | uncertain significance |
| rs755023571 | 2:231,115,721 | G/A | — | uncertain significance |
| rs2470895489 | 2:231,115,771 | G/T | — | uncertain significance |
| rs13385151 | 2:231,115,976 | C/T | intron variant | — |
| rs7423615 | 2:231,116,874 | C/T | intron variant | — |
| rs754489161 | 2:231,118,103 | A/G | — | likely benign |
| rs28693552 | 2:231,119,914 | G/C | intron variant | — |
| rs138339396 | 2:231,120,209 | G/C | — | benign |
| rs757258493 | 2:231,134,270 | C/A | — | uncertain significance |
| rs1396009114 | 2:231,134,311 | C/A | — | uncertain significance |
| rs748570662 | 2:231,134,617 | C/T | — | uncertain significance |
| rs919740087 | 2:231,134,639 | C/T | — | likely benign |
| rs189298436 | 2:231,135,293 | T/C | — | benign |
| rs377342881 | 2:231,135,330 | T/A | — | uncertain significance |
| rs2471313171 | 2:231,135,352 | G/A | — | likely benign |
| rs201215221 | 2:231,149,074 | G/A | — | benign |
| rs4972946 | 2:231,149,108 | G/T | stop gained | — |
| rs386352364 | 2:231,149,112 | A/C | — | uncertain significance |
| rs202002766 | 2:231,150,496 | T/G | — | uncertain significance |
| rs763966598 | 2:231,150,512 | C/A | — | uncertain significance |
| rs1281319077 | 2:231,150,544 | A/G | — | uncertain significance |
| rs11887179 | 2:231,152,633 | C/T | — | benign |
| rs200503807 | 2:231,152,634 | G/A | — | likely benign |
| rs376999350 | 2:231,152,639 | A/T | — | uncertain significance |
| rs1009141868 | 2:231,152,666 | A/G | — | uncertain significance |
| rs201257053 | 2:231,152,673 | G/T | — | uncertain significance |
| rs34004493 | 2:231,154,012 | A/G | intron variant | — |
| rs371318637 | 2:231,155,243 | G/A | — | uncertain significance |
| rs2057263875 | 2:231,157,375 | T/C | — | uncertain significance |
| rs761967750 | 2:231,157,385 | C/T | — | uncertain significance |
| rs375174898 | 2:231,157,435 | C/T | — | likely benign |
| rs199959729 | 2:231,157,469 | G/A | — | uncertain significance |
| rs760871059 | 2:231,157,477 | G/T | — | uncertain significance |
| rs560374343 | 2:231,162,143 | T/C | — | uncertain significance |
| rs62192163 | 2:231,175,549 | T/C | missense variant | — |
| rs770799476 | 2:231,176,168 | T/C | — | uncertain significance |
| rs533999979 | 2:231,176,175 | G/C | — | uncertain significance |
| rs377705244 | 2:231,176,194 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.