About RVIS (Residual Variation Intolerance Score) is a gene score based module intended to help in the interpretation of human sequence data.
News We now provide a revised RVIS gene score (unpublished) based on the recently released ExAC v2 (release 2.0). The data can be found at (gnomad.broadinstitute.org).
Examples - Gene: SCN1A, Gene list: SCN1A, ATP1A3, HLA-A, MTOR, MUC5B (comma delimited), All.Gene
| GENE | RVIS | %ExAC RVIS | ExAC LoF FDR | %ExAC v2 RVIS | Edge Case (%OE-ratio) |
|---|---|---|---|---|---|
| SCN1A atavdb | -1.43 (4.03%) | 2.38% | 3.82E-12 | -2.2415 (2.3754%) | N (7.8736%) |
| ATP1A3 atavdb | -1.53 (3.37%) | 2.16% | 6.57E-05 | -1.8186 (3.9101%) | N (0.5789%) |
| HLA-A atavdb | 8.93 (99.96%) | 99.93% | 0.1784101 | 6.2157 (99.8534%) | N (91.5012%) |
| MTOR atavdb | -3.49 (0.34%) | 0.09% | 1.28E-13 | -4.7153 (0.2151%) | N (4.3189%) |
| MUC5B atavdb | 16.52 (99.98%) | 99.97% | 1.38E-13 | 15.8302 (99.9707%) | N (45.2788%) |
Click Here to download the full list of CCDS Release 9 RVIS gene score. Please cite doi: 10.1371/journal.pgen.1003709
Click Here to download novel unpublished RVIS gene score based on ExAC sequencing data release (accessed: January 13th 2015 [updated scores for release0.3]).
Click Here to download novel unpublished RVIS gene score based on ExAC v2 release 2.0 (accessed: March 15th 2017). As of this release we use CCDS release 20 and Ensembl release 87 annotations.
