CUL3 splice variants in ExAC


The table below lists the CUL3 splice variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord. Variant (CDS) Variant (Protein) Variant Type ExAC frequencyPopulations*
1. 225367675 c.1485+7T>G splice site 0.00065129
2. 225422367 c.264+9C>T splice site 0.00044274
3. 225346804 c.1843-9A>C splice site 0.00028358
4. 225379325 c.539+4A>G splice site 0.00023190
5. 225365207 c.1486-3T>A splice site 0.00010724
6. 225400236 c.378+9A>C splice site 0.00003758
7. 225449654 c.66+7C>T splice site 0.00003134
8. 225400238 c.378+7A>G splice site 0.00002802
9. 225378360 c.540-5G>A splice site 0.00002609
10. 225368362 c.1377+7T>G splice site 0.00002114
11. 225378361 c.540-6C>T splice site 0.00001750
12. 225378237 c.654+4A>T splice site 0.00001685
13. 225368537 c.1209A>G splice site 0.00001265
14. 225376305 c.655-6T>C splice site 0.00001099
15. 225422369 c.264+7A>T splice site 0.00000933
16. 225422369 c.264+7A>G splice site 0.00000933
17. 225422371 c.264+5C>T splice site 0.00000926
18. 225370853 c.1030-4T>C splice site 0.00000908
19. 225378363 c.540-8T>C splice site 0.00000880
20. 225339091 c.2178A>G splice site 0.00000851
21. 225378234 c.654+7C>T splice site 0.00000848
22. 225378235 c.654+6C>A splice site 0.00000846
23. 225371726 c.884-6T>A splice site 0.00000842
24. 225378237 c.654+4A>G splice site 0.00000842
25. 225346802 c.1843-7A>C splice site 0.00000834
26. 225343069 c.2030-7A>G splice site 0.00000833
27. 225343066 c.2030-4T>A splice site 0.00000832
28. 225362462 c.1707+8T>C splice site 0.00000828
29. 225376067 c.883+4A>G splice site 0.00000827
30. 225365207 c.1486-3T>C splice site 0.00000825
31. 225365209 c.1486-5C>T splice site 0.00000825
32. 225365073 c.1610+7C>A splice site 0.00000824
33. 225367678 c.1485+4A>G splice site 0.00000824
34. 225365074 c.1610+6T>C splice site 0.00000824

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

Genomic coordinates refer to the GRCh37 release of the human genome.