Table 2.
Functional category | Prediction tools | Prediction results of SNPs | ||||
---|---|---|---|---|---|---|
rs1052576 FS score: 0.774 |
rs1052574 FS score: 0.789 |
rs2308939 FS score: 0.977 |
rs1820204 FS score: 0.888 |
rs2020897 FS score: 0.916 |
||
Protein coding | PolyPhen | Benign | Damaging | Damaging | Damaging | Benign |
SIFT | Tolerated | Damaging | Tolerated | Tolerated | Damaging | |
SNP-effect | Deleterious | Deleterious | Deleterious | No entry | Benign | |
LS-SNP | Benign | Deleterious | Benign | Benign | Benign | |
SNPs3D | Benign | Deleterious | Deleterious | Benign | Deleterious | |
Splicing | ESEfinder | Changed | Changed | Changed | Changed | Changed |
Regulation | ESRSearch | Not changed | Changed | Changed | Changed | Changed |
PESE | Not changed | Not changed | Changed | Changed | Changed | |
RESCUE-ESE | Not changed | Not changed | Changed | Changed | Changed | |
Transcriptional regulation | Golden Path | Exist | Exist | Exist | Exist | Exist |
Post-translation | OGPET | Exist | Not exist | Exist | Exist | Not exist |
rs2308938 FS score: 0.533 |
rs2308941 FS score: 0.749 |
rs9282624 FS score: 0.919 |
rs4646008 FS score: 0.774 |
|||
Protein coding | PolyPhen | Benign | Damaging | Damaging | Damaging | |
SIFT | Tolerated | Tolerated | Tolerated | Tolerated | ||
SNP-effect | Benign | Deleterious | Benign | Deleterious | ||
LS-SNP | Benign | Benign | Benign | Benign | ||
SNPs3D | Deleterious | Deleterious | Benign | No entry | ||
Splicing regulation | ESEfinder | Not changed | Changed | Changed | Not changed | |
ESRSearch | Changed | Changed | Changed | Changed | ||
PESE | Changed | Not changed | Changed | Not changed | ||
RESCUE-ESE | Changed | Not changed | Changed | Changed | ||
Transcriptional regulation | Golden Path | Exist | Exist | Exist | Exist | |
Post-translation | OGPET | Not exist | Exist | Not exist | Exist |
FS Functional significance