Table 2.
Pathogenic mutations identified in target genes for miR-153 using exome sequencing.
| ID | Gene | Chr | Pos1 | Pos2 | Ref | Alt | Hom/Het | SIFT_Score | SIFTpred | MutAssessor | MutTast | PolyPhen2 | Phylop |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABI2 | chr2 | 204231743 | 204231743 | A | T | het | 0.005 | DELETERIOUS | 2.27,0.678,M | −0.525 | |||
| ACTB | chr7 | 5567477 | 5567477 | A | G | het | 0.001 | DELETERIOUS | 4.95,0.911,H | 2.114 | |||
| AQR | chr15 | 35166090 | 35166090 | A | G | het | 0.002 | DELETERIOUS | 3.54,0.789,H | 2.115 | |||
| AQR | chr15 | 35189132 | 35189132 | G | T | het | 0.000 | DELETERIOUS | 3.94,0.823,H | 2.743 | |||
| COL4A1* | chr13 | 110838875 | 110838875 | C | T | het | 0.030 | DELETERIOUS | 2.095,0.663,M | 1,1.0,D | 0.999,D | 2.284 | |
| rs115324397 | COL4A3* | chr2 | 228110691 | 228110691 | C | A | het | 0.010 | DELETERIOUS | 2.61,0.708,M | 1.000,1.000,D | 1.0,D | 2.427 |
| COPS3 | chr17 | 17171261 | 17171261 | C | A | het | 0.013 | DELETERIOUS | 2.805,0.725,M | 2.572 | |||
| CSTF1 | chr20 | 54970669 | 54970669 | C | A | het | 0.000 | DELETERIOUS | 2.12,0.665,M | 2.618 | |||
| EIF3A | chr10 | 120802249 | 120802249 | C | A | het | 0.008 | DELETERIOUS | 2.175,0.670,M | 2.937 | |||
| rs114015346 | EPRS* | chr1 | 220193423 | 220193423 | T | C | het | 0.020 | DELETERIOUS | 3.04,0.745,M | 1,1.0,D | 0.998,D | 1.009 |
| FOXO1* | chr13 | 41134822 | 41134822 | C | T | het | 0.006 | DELETERIOUS | 2.8,0.724,M | 1,1.0,D | 1.0,D | 2.763 | |
| GSPT1 | chr16 | 11980708 | 11980708 | C | G | het | 0.001 | DELETERIOUS | 2.295,0.681,M | 2.584 | |||
| GTPBP4 | chr10 | 1038459 | 1038459 | C | A | het | 0.002 | DELETERIOUS | 3.535,0.788,H | 2.796 | |||
| rs74637339 | HACL1* | chr3 | 15628040 | 15628040 | T | A | het | 0.004 | DELETERIOUS | 2.085,0.662,M | 1,1.0,D | 0.998,D | 2.225 |
| rs61755705 | HIF1A* | chr14 | 62187212 | 62187212 | G | C | het | 0.008 | DELETERIOUS | 2.55,0.703,M | 1.000,1.000,D | 0.978,D | 1.423 |
| ITGA1 | chr5 | 52221259 | 52221259 | C | T | het | 0.000 | DELETERIOUS | 2.095,0.663,M | 2.656 | |||
| ITGAV | chr2 | 187505680 | 187505680 | C | A | het | 0.003 | DELETERIOUS | 3.625,0.796,H | 2.712 | |||
| LONP2 | chr16 | 48311377 | 48311377 | C | A | het | 0.004 | DELETERIOUS | 2.64,0.711,M | 2.756 | |||
| rs140970953 | MCM4* | chr8 | 48883234 | 48883234 | C | T | het | 0.002 | DELETERIOUS | 4.54,0.875,H | 1,1.0,D | 1.0,D | 2.906 |
| rs61734508 | NID2* | chr14 | 52534758 | 52534758 | C | G | het | 0.002 | DELETERIOUS | 2.325,0.683,M | 0.821,0.821,D | 1.0,D | 1.327 |
| ORC1 | chr1 | 52847394 | 52847394 | G | T | het | 0.000 | DELETERIOUS | 3.795,0.811,H | 2.661 | |||
| PBRM1 | chr3 | 52702546 | 52702546 | G | T | het | 0.012 | DELETERIOUS | 3.325,0.770,M | 1.449 | |||
| SMAD3 | chr15 | 67477139 | 67477139 | C | A | het | 0.000 | DELETERIOUS | 3.065,0.747,M | 2.469 | |||
| YTHDC2 | chr5 | 112891819 | 112891819 | A | T | het | 0.000 | DELETERIOUS | 4.2,0.846,H | 0.698 |
Note: SIFT: D - disease causing; MutationAssessor: H - high; M − medium; L – low pathogenicity; MutationTaster: D - disease causing. PolyPhen2: D - probably damaging (≥0.957); P- possibly damaging ((0.447 ≤ pp2_hdiv ≤ 0.909); Phylop - the higher is the value, the higher the pathogenicity of the variant; *somatic mutations.