Table 3.
Causal genes correctly highlighted by RIF across a range of species and biological circumstances
| Gene | Species, Phenotype | Independent evidence for gene function | RIF ranking | Differentially expressed |
|---|---|---|---|---|
| MSTN |
Cattle muscle, Piedmontese hyper-muscularity versus normal |
Mapping, deep sequencing [60] |
1st out of 920 [1] |
No |
| Alpha-Synuclein |
Human brain, Parkinson’s disease versus healthy |
Range of evidence including GWAS reviewed in [61] |
Not formally stated in patent [55], presumably 1st |
Unknown. Patent was established to identify causal variants by transcriptome wiring, even when not DE |
| CDK8 |
Human colon, colorectal cancer versus healthy |
Colorectal cancer oncogene regulates B-catenin [54] |
4th out of 1,292 [53] |
No |
| P107 |
Human, brown fat tissue versus white fat tissue |
P107 knockout mouse exhibits a uniform white to brown fat transition [62] |
5th out of 552 [4] |
No |
| DLK1 |
Sheep muscle, Callipyge hyper- muscularity versus normal |
Not proven, but DLK1 is the most DE highly abundant gene, and its expression is maintained post-natally in effected muscles only. |
4th out of 898 Unpublished data |
Yes, 2.14-fold up- regulation in callipyge individuals across all time points explored. |
| INSM1 |
Pig, 6 CNS tissues versus 21 other tissues |
Neuroendocrine differentiation [63] |
1st out of 1,072 (submitted) |
Yes, 3.8-Fold up- regulation in CNS |
| OXTR |
Cattle muscle, steroid hormone induced muscling |
No direct evidence, but OXT precursor is the most DE gene in this experiment, and is known to drive cardiac development. |
2nd out of 2,944 [52] |
No |
| CARM1 | Human breast, breast cancer high survival versus low survival | Regulates estrogen stimulated breast cancer via E2F1 [64] | 2nd out of 892 [4] | No |
RIF highlights the correct molecules irrespective of whether they are DE.