DDX3X
DEAD-box helicase 3 X-linked
Summary
The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Known Variants528 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12008523 | X:41,192,689 | C/T | — | likely benign |
| rs186005081 | X:41,192,964 | G/C | — | likely benign |
| rs180854597 | X:41,192,969 | A/C | — | likely benign |
| rs145191840 | X:41,193,434 | G/A | — | likely benign |
| rs2519481019 | X:41,193,506 | A/G | — | pathogenic |
| rs1555950665 | X:41,193,508 | G/C | — | pathogenic |
| rs1403252758 | X:41,193,523 | G/A | — | likely benign |
| rs2147332802 | X:41,193,528 | A/G | — | uncertain significance |
| rs761774074 | X:41,193,532 | G/A | — | likely benign |
| rs2519481159 | X:41,193,536 | G/A | — | uncertain significance |
| rs2147332843 | X:41,193,543 | A/G | — | uncertain significance |
| rs1555950676 | X:41,193,545 | C/T | — | pathogenic |
| rs2147332861 | X:41,193,547 | G/C | — | benign |
| rs2519481237 | X:41,193,551 | G/C | — | likely pathogenic |
| rs2519481241 | X:41,193,552 | T/A | — | likely pathogenic |
| rs757943965 | X:41,193,559 | C/G | — | likely benign |
| rs778043547 | X:41,193,569 | A/C | — | likely benign |
| rs184347580 | X:41,193,745 | C/T | — | benign |
| rs188790624 | X:41,193,746 | C/T | — | benign |
| rs145059861 | X:41,193,866 | T/G | — | likely benign |
| rs373874671 | X:41,193,920 | G/T | — | likely benign |
| rs868824668 | X:41,194,053 | G/A | — | likely benign |
| rs4358953 | X:41,196,417 | C/T | — | benign |
| rs762809683 | X:41,196,642 | C/T | — | likely benign |
| rs770884779 | X:41,196,644 | A/G | — | likely benign |
| rs1486172271 | X:41,196,649 | A/T | — | benign |
| rs999109544 | X:41,196,652 | C/G | — | likely benign |
| rs775885529 | X:41,196,654 | C/G | — | likely benign |
| rs1158832456 | X:41,196,665 | C/G | — | uncertain significance |
| rs1569233520 | X:41,196,673 | G/T | — | uncertain significance |
| rs759092210 | X:41,196,684 | T/C | — | likely benign |
| rs2147340483 | X:41,196,686 | C/A | — | pathogenic |
| rs1432357199 | X:41,196,687 | A/G | — | likely benign |
| rs1602119250 | X:41,196,694 | C/T | — | pathogenic |
| rs2147340525 | X:41,196,695 | A/C | — | uncertain significance |
| rs2147340549 | X:41,196,704 | G/T | — | uncertain significance |
| rs1326601263 | X:41,196,714 | C/T | — | likely benign |
| rs2063787817 | X:41,196,720 | T/C | — | pathogenic |
| rs2147340616 | X:41,196,724 | T/G | — | likely pathogenic |
| rs2519492397 | X:41,196,729 | C/T | — | likely benign |
| rs2519492425 | X:41,196,736 | T/G | — | likely benign |
| rs112766093 | X:41,198,279 | A/T | — | likely benign |
| rs1555951993 | X:41,198,298 | A/G | — | pathogenic |
| rs1602122138 | X:41,198,303 | C/T | — | likely pathogenic |
| rs1064793858 | X:41,198,304 | C/G | missense variant | pathogenic |
| rs1064793796 | X:41,198,306 | C/T | missense variant | pathogenic |
| rs1341824034 | X:41,198,307 | C/A | — | uncertain significance |
| rs200109147 | X:41,198,311 | T/C | — | likely benign |
| rs2519497548 | X:41,198,318 | A/T | — | uncertain significance |
| rs1569234653 | X:41,198,321 | C/T | — | pathogenic |
| rs1064796382 | X:41,198,333 | A/T | stop gained | pathogenic |
| rs2147343930 | X:41,198,337 | G/A | — | pathogenic |
| rs144446471 | X:41,198,439 | T/G | — | likely benign |
| rs2275943 | X:41,198,456 | T/C | — | benign |
| rs929973894 | X:41,200,056 | A/G | — | likely benign |
| rs2063839261 | X:41,200,069 | T/C | — | uncertain significance |
| rs149501085 | X:41,200,426 | C/T | — | benign |
| rs183722470 | X:41,200,683 | A/G | — | likely benign |
| rs769031608 | X:41,200,718 | T/C | — | likely benign |
| rs139960681 | X:41,200,732 | C/G | — | benign |
| rs1131691769 | X:41,200,736 | G/C | — | pathogenic |
| rs1263310293 | X:41,200,737 | G/A | — | uncertain significance |
| rs370574418 | X:41,200,744 | C/T | — | likely benign |
| rs2147348601 | X:41,200,747 | T/C | — | likely benign |
| rs749047477 | X:41,200,755 | G/A | — | likely benign |
| rs2519505296 | X:41,200,756 | T/G | — | uncertain significance |
| rs1555952639 | X:41,200,757 | T/G | — | uncertain significance |
| rs1602126980 | X:41,200,758 | C/G | — | pathogenic |
| rs2519505328 | X:41,200,764 | G/T | — | uncertain significance |
| rs778806111 | X:41,200,766 | A/G | — | likely benign |
| rs2063850443 | X:41,200,779 | A/G | — | uncertain significance |
| rs1250603833 | X:41,200,788 | C/T | — | uncertain significance |
| rs2147348697 | X:41,200,792 | T/G | — | pathogenic |
| rs1569236301 | X:41,200,809 | G/A | — | uncertain significance |
| rs2519505476 | X:41,200,812 | G/A | — | uncertain significance |
| rs774816127 | X:41,200,817 | T/C | — | uncertain significance |
| rs886041589 | X:41,200,818 | C/G | stop gained | pathogenic |
| rs143627607 | X:41,200,819 | A/C | — | likely benign |
| rs1064795656 | X:41,200,821 | G/A | — | uncertain significance |
| rs2519505549 | X:41,200,830 | C/G | — | uncertain significance |
| rs892274119 | X:41,200,836 | T/G | — | conflicting classifications of pathogenicity |
| rs776494156 | X:41,200,837 | C/T | — | likely benign |
| rs2065257339 | X:41,200,847 | C/T | — | uncertain significance |
| rs763397133 | X:41,200,848 | G/A | — | uncertain significance |
| rs2519505671 | X:41,200,850 | G/T | — | pathogenic |
| rs2519505709 | X:41,200,865 | G/A | — | uncertain significance |
| rs1555952710 | X:41,200,870 | G/C | — | pathogenic |
| rs1188370836 | X:41,200,872 | A/T | — | conflicting classifications of pathogenicity |
| rs2519505759 | X:41,200,878 | T/A | — | likely benign |
| rs367741578 | X:41,200,883 | T/C | — | likely benign |
| rs2519505795 | X:41,200,885 | A/C | — | likely benign |
| rs146299715 | X:41,200,941 | T/G | — | likely benign |
| rs4827269 | X:41,201,158 | C/G | — | benign |
| rs2063865427 | X:41,201,736 | T/A | — | uncertain significance |
| rs2519508434 | X:41,201,740 | C/T | — | likely benign |
| rs2519508468 | X:41,201,745 | C/T | — | uncertain significance |
| rs1479548397 | X:41,201,758 | C/T | — | uncertain significance |
| rs2519508517 | X:41,201,760 | T/C | — | likely benign |
| rs750187385 | X:41,201,775 | C/T | — | benign |
| rs2519508652 | X:41,201,789 | G/A | — | uncertain significance |
Showing 100 of 528 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.