UBA5
ubiquitin like modifier activating enzyme 5
Summary
This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]
Known Variants205 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs151048899 | 3:132,378,559 | C/A | — | conflicting classifications of pathogenicity |
| rs780764978 | 3:132,379,348 | C/T | — | likely benign |
| rs534709270 | 3:132,379,373 | G/A | — | likely benign |
| rs2107921941 | 3:132,379,382 | A/G | — | pathogenic |
| rs1434532239 | 3:132,379,385 | G/A | — | uncertain significance |
| rs898467888 | 3:132,379,386 | C/T | — | uncertain significance |
| rs1244559191 | 3:132,379,387 | G/A | — | likely benign |
| rs1295368564 | 3:132,379,391 | T/C | — | uncertain significance |
| rs770749604 | 3:132,379,401 | G/A | — | likely benign |
| rs376891080 | 3:132,379,402 | C/T | — | likely benign |
| rs762794075 | 3:132,379,421 | G/A | — | uncertain significance |
| rs574410589 | 3:132,379,444 | G/A | — | likely benign |
| rs1409255069 | 3:132,379,457 | C/G | — | uncertain significance |
| rs1444209036 | 3:132,379,465 | G/A | — | likely benign |
| rs2107922258 | 3:132,379,472 | G/T | — | uncertain significance |
| rs372470618 | 3:132,379,488 | G/A | — | uncertain significance |
| rs1183094645 | 3:132,379,491 | G/A | — | uncertain significance |
| rs755696045 | 3:132,379,496 | C/T | — | uncertain significance |
| rs1408298468 | 3:132,379,512 | G/C | — | uncertain significance |
| rs141101623 | 3:132,379,516 | A/G | — | likely benign |
| rs376042625 | 3:132,379,554 | C/A | — | likely benign |
| rs781605897 | 3:132,379,557 | C/G | — | likely benign |
| rs909633319 | 3:132,379,558 | G/C | — | likely benign |
| rs746057341 | 3:132,379,561 | C/T | — | likely benign |
| rs149516856 | 3:132,379,880 | T/A | — | likely benign |
| rs1198287987 | 3:132,379,900 | T/C | — | likely benign |
| rs78910211 | 3:132,382,722 | G/A | — | — |
| rs2530302851 | 3:132,384,649 | A/G | — | likely benign |
| rs746175051 | 3:132,384,650 | T/C | — | likely benign |
| rs1559989006 | 3:132,384,652 | T/C | — | likely benign |
| rs769919837 | 3:132,384,660 | T/C | — | conflicting classifications of pathogenicity |
| rs768687133 | 3:132,384,668 | C/T | — | uncertain significance |
| rs774318611 | 3:132,384,669 | G/A | missense variant | pathogenic |
| rs532178791 | 3:132,384,674 | A/G | missense variant | pathogenic |
| rs886039756 | 3:132,384,686 | C/T | stop gained | pathogenic |
| rs146718847 | 3:132,384,700 | A/G | — | likely benign |
| rs61748106 | 3:132,384,704 | G/T | — | likely pathogenic |
| rs2530303007 | 3:132,384,708 | A/C | — | uncertain significance |
| rs1363248710 | 3:132,384,709 | T/G | — | likely pathogenic |
| rs759157155 | 3:132,384,718 | A/C | — | uncertain significance |
| rs988972019 | 3:132,384,811 | T/C | — | likely benign |
| rs778957097 | 3:132,384,834 | C/T | — | conflicting classifications of pathogenicity |
| rs150313260 | 3:132,384,835 | G/A | — | conflicting classifications of pathogenicity |
| rs1218740788 | 3:132,384,839 | C/T | — | likely benign |
| rs2107932100 | 3:132,384,840 | T/G | — | uncertain significance |
| rs773155430 | 3:132,384,845 | C/T | — | likely benign |
| rs746815612 | 3:132,384,846 | G/A | — | uncertain significance |
| rs759250524 | 3:132,384,857 | A/G | — | likely benign |
| rs775151731 | 3:132,384,894 | C/T | — | likely benign |
| rs762502767 | 3:132,384,896 | G/C | — | likely benign |
| rs767939963 | 3:132,384,897 | A/G | — | uncertain significance |
| rs2530303960 | 3:132,384,900 | A/G | — | likely pathogenic |
| rs765075923 | 3:132,384,910 | T/C | — | uncertain significance |
| rs2530304011 | 3:132,384,919 | T/C | — | likely pathogenic |
| rs2530315016 | 3:132,387,647 | C/A | — | likely benign |
| rs762588346 | 3:132,387,692 | C/T | — | likely benign |
| rs1407945340 | 3:132,387,693 | T/C | — | uncertain significance |
| rs1444445994 | 3:132,387,706 | T/G | — | uncertain significance |
| rs2107937223 | 3:132,387,745 | A/G | — | likely benign |
| rs374231741 | 3:132,387,754 | A/C | — | likely benign |
| rs2107937292 | 3:132,387,772 | G/T | — | likely pathogenic |
| rs765475609 | 3:132,387,786 | A/T | — | likely benign |
| rs2107939760 | 3:132,389,030 | T/C | — | likely benign |
| rs2107939768 | 3:132,389,038 | T/A | — | likely benign |
| rs2530321320 | 3:132,389,053 | C/G | — | uncertain significance |
| rs1938544157 | 3:132,389,054 | T/C | — | likely benign |
| rs1370875310 | 3:132,389,065 | T/G | — | uncertain significance |
| rs200764667 | 3:132,389,069 | A/G | — | likely benign |
| rs1358218303 | 3:132,389,074 | A/G | — | uncertain significance |
| rs376247071 | 3:132,389,080 | A/G | — | uncertain significance |
| rs761169562 | 3:132,389,094 | G/A | — | uncertain significance |
| rs2530321613 | 3:132,389,096 | G/A | — | likely benign |
| rs1366214999 | 3:132,389,116 | T/C | — | uncertain significance |
| rs183176846 | 3:132,389,146 | G/T | — | likely benign |
| rs370353916 | 3:132,389,791 | C/T | — | likely benign |
| rs771541090 | 3:132,389,794 | A/G | — | likely benign |
| rs777172295 | 3:132,389,795 | T/C | — | likely benign |
| rs1342124245 | 3:132,389,815 | T/C | — | likely benign |
| rs886039761 | 3:132,389,817 | G/A | missense variant | pathogenic |
| rs1938575192 | 3:132,389,819 | T/C | — | likely benign |
| rs781481137 | 3:132,389,824 | A/C | — | uncertain significance |
| rs763173306 | 3:132,389,826 | A/G | — | uncertain significance |
| rs2107941261 | 3:132,389,829 | G/A | — | uncertain significance |
| rs1938576056 | 3:132,389,839 | T/C | — | likely benign |
| rs2530325660 | 3:132,389,856 | G/A | — | likely pathogenic |
| rs1476381318 | 3:132,389,864 | A/G | — | uncertain significance |
| rs750452534 | 3:132,389,865 | A/G | — | uncertain significance |
| rs374052333 | 3:132,389,876 | C/T | stop gained | pathogenic |
| rs368103311 | 3:132,389,877 | G/T | — | uncertain significance |
| rs1475544453 | 3:132,389,878 | A/C | — | likely benign |
| rs2530325778 | 3:132,389,881 | G/A | — | uncertain significance |
| rs1938579287 | 3:132,389,889 | A/G | — | uncertain significance |
| rs187933787 | 3:132,389,912 | C/T | — | likely benign |
| rs1050451408 | 3:132,390,606 | C/T | — | likely benign |
| rs368409295 | 3:132,390,609 | A/G | — | likely benign |
| rs887887339 | 3:132,390,615 | A/C | — | likely benign |
| rs1006380165 | 3:132,390,622 | C/T | — | uncertain significance |
| rs2530330121 | 3:132,390,644 | A/G | — | likely benign |
| rs1938618326 | 3:132,390,664 | G/C | — | uncertain significance |
| rs2530330240 | 3:132,390,665 | T/C | — | likely benign |
Showing 100 of 205 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.