indicates the row correspoding to natural site. We are designing a system to evaluate changes in the Splice site strength based on information theory based models of donor and acceptor splice sites and predict the formation and relative use of different cryptic sites through information theory.
The prediction of cryptic sites is based on total exon splicing information content which is sum of information content of acceptor, donor and gap surprisal as per length of the exon.
Ri total* = Ri acceptor + Ri donor + Gap Surprisal.
Gap Surprisal is the penalty given as per length of the exon.
The mutations indicated below are taken from Information Analysis of Human Splice Site Mutations paper.
(* The definition will be updated in the future to incorporate other splicing regulatory sequences.)
Gene: IDS
The mutation taking place is IVS3-2A>G, 146477843 acceptor M58342
Ri total initial is
Pos:
146477843
Ri_total: 23.3
After the mutation takes place, the values are as follows:
|
Relative_dist |
position | Ri_site | Ri_natural (donor) | nat_pos (donor) | gap_surprisal | Ri_total | ∆Ri_Total | Min. Fold Change |
|---|---|---|---|---|---|---|---|---|
| -51 | 146477792 | 0.8 | 11.1 | 146477753 | -1.5 | 10.4 |
4.7 | 0.04 |
| -1 | 146477842 | 2.5 | 11.1 | 146477753 | -0.5 | 13.1 | 2.0 | 0.25 |
| -37 | 146477806 | 4.4 | 11.1 | 146477753 | -1.1 | 14.4 | 0.7 | 0.62 |
| 0 | 146477843 | 4.5 | 11.1 | 146477753 | -0.5 | 15.1 | NA | NA |
| -2 | 146477841 | 0.3 | 11.1 | 146477753 | -0.4 | 11.1 | 4.0 | 0.06 |
| +1 | 146477844 | 16.5 | 11.1 | 146477753 | -0.2 | 27.4 | 12.3 | 0.00 |
| +2 | 146477845 | -0.5 | 11.1 | 146477753 | -0.6 | 10.1 | 5.0 | 0.03 |
| -40 | 146477803 | -0.9 | 11.1 | 146477753 | -1.2 | 9.0 | 6.1 | 0.01 |
Mutation: IVS6-2A>G 146467246 acceptor M58342
Ri total initial is
Pos:
146467246 Ri_total:
21.3
After the mutation takes place, the values are as follows:
| Relative_dist | position | Ri_site | Ri_natural (donor) | nat_pos (donor) | gap_surprisal | Ri_total | ∆Ri_Total | Min. Fold Change |
|---|---|---|---|---|---|---|---|---|
| +6 | 146467252 | 1.8 | 9.0 | 146467118 | -0.6 | 10.2 | 2.7 | 0.15 |
| -43 | 146467203 | -1.1 | 9.0 | 146467118 | -0.2 | 7.8 | 5.1 | 0.03 |
| -51 | 146467195 | 5.9 | 9.0 | 146467118 | -0.6 | 14.3 | 1.4 | 0.38 |
| +3 | 146467249 | 2.2 | 9.0 | 146467118 | -0.6 | 10.6 | 2.3 | 0.20 |
| -37 | 146467209 | -2.2 | 9.0 | 146467118 | -0.2 | 6.6 | 6.3 | 0.01 |
| 0 | 146467246 | 4.4 | 9.0 | 146467118 | -0.5 | 12.9 | NA | NA |
| +7 | 146467253 | 6.7 | 9.0 | 146467118 | -0.6 | 15.1 | 2.2 | 0.22 |
| -42 | 146467204 | -1.4 | 9.0 | 146467118 | -0.6 | 7.1 | 5.8 | 0.02 |
| -3 | 146467243 | -0.1 | 9.0 | 146467118 | -0.5 | 8.4 | 4.5 | 0.04 |
Mutation: IVS7-1G>C 146463904 acceptor M58342
Ri total initial is
Pos:
146463904 Ri_total:
7.5
After the mutation takes place, the values are as follows:
| Relative_dist | position | Ri_site | Ri_natural (donor) | nat_pos (donor) | gap_surprisal | Ri_total | ∆Ri_Total | Min. Fold Change |
|---|---|---|---|---|---|---|---|---|
| +6 | 146463910 | 0.1 | 4.5 | 146463729 | -1.2 | 3.4 | 0.1 | 0.93 |
| +3 | 146463907 | -1.8 | 4.5 | 146463729 | -1.1 | 1.6 | 1.9 | 0.27 |
| +17 | 146463921 | 1.3 | 4.5 | 146463729 | -1.7 | 4.2 | 0.7 | 0.62 |
| 0 | 146463904 | 0.0 | 4.5 | 146463729 | -1.1 | 3.5 | NA | NA |
| +7 | 146463911 | 2.5 | 4.5 | 146463729 | -1.8 | 5.3 | 1.8 | 0.29 |
| -12 | 146463892 | 1.4 | 4.5 | 146463729 | -0.9 | 5.0 | 1.5 | 0.35 |
Mutation: IVS7-8T>G 146463904 acceptor M58342
Ri total initial is
Pos:
146463904
Ri_total: 7.5
After the mutation takes place, the values are as follows:
| Relative_dist | position | Ri_site | Ri_natural (donor) | nat_pos (donor) | gap_surprisal | Ri_total | ∆Ri_Total | Min. Fold Change | +6 | 146463910 | -0.6 | 4.5 | 146463729 | -1.2 | 2.7 | 3.2 | 0.11 |
|---|---|---|---|---|---|---|---|---|
| +17 | 146463921 | 1.3 | 4.5 | 146463729 | -1.7 | 4.2 | 1.7 | 0.31 |
| +3 | 146463907 | 0.0 | 4.5 | 146463729 | -1.1 | 3.4 | 2.5 | 0.18 |
| 0 | 146463904 | 2.4 | 4.5 | 146463729 | -1.1 | 5.9 | NA | NA |
| +7 | 146463911 | 11.3 | 4.5 | 146463729 | -1.8 | 14.1 | 8.2 | 0.00 |
| -12 | 146463892 | -1.3 | 4.5 | 146463729 | -0.9 | 2.3 | 3.6 | 0.08 |
Gene: F9
type is acceptor
The mutation taking place is IVS4-2A>G,
136575301 acceptor M11309
Ri total initial is
Pos: 136575301 Ri_total:
12.98
After the mutation takes place, the values are as follows:
| Relative_dist | position | Ri_site | Ri_natural (donor) | nat_pos (donor) | gap_surprisal | Ri_total | ∆Ri_Total | Min. Fold Change |
|---|---|---|---|---|---|---|---|---|
| +28 | 136575329 | -3.7 | 2.4 | 136575431 | -0.5 | -1.7 | 6.5 | 0.01 |
| +7 | 136575308 | -2.9 | 2.4 | 136575431 | -0.5 | -1.0 | 5.8 | 0.02 |
| -10 | 136575291 | -3.6 | 2.4 | 136575431 | -0.5 | -1.6 | 6.4 | 0.01 |
| -19 | 136575282 | -6.4 | 2.4 | 136575431 | -0.7 | -4.6 | 9.4 | 0.00 |
| +2 | 136575303 | 0.4 | 2.4 | 136575431 | -0.3 | 2.5 | 2.3 | 0.20 |
| +38 | 136575339 | -6.5 | 2.4 | 136575431 | -0.2 | -4.3 | 9.1 | 0.00 |
| -1 | 136575300 | 4.5 | 2.4 | 136575431 | -0.4 | 6.6 | 1.8 | 0.29 |
| +3 | 136575304 | -1.3 | 2.4 | 136575431 | -0.7 | 0.5 | 4.3 | 0.05 |
| +6 | 136575307 | -0.6 | 2.4 | 136575431 | -0.6 | 1.2 | 3.6 | 0.08 |
| +9 | 136575310 | -1.3 | 2.4 | 136575431 | -0.6 | 0.5 | 4.3 | 0.05 |
| 0 | 136575301 | 3.0 | 2.4 | 136575431 | -0.6 | 4.8 | NA | NA |
| -14 | 136575287 | -6.7 | 2.4 | 136575431 | -0.8 | -5.1 | 9.9 | 0.00 |
| -2 | 136575299 | -5.9 | 2.4 | 136575431 | -0.6 | -4.1 | 8.9 | 0.00 |
| +20 | 136575321 | -5.0 | 2.4 | 136575431 | -0.2 | -2.7 | 7.5 | 0.01 |
Mutation: IVS4-1G>C 136575301 acceptor M11309
Ri total initial is
Pos:
136575301
Ri_total: 12.98
After the mutation takes place, the values are as follows:
| Relative_dist | position | Ri_site | Ri_natural (donor) | nat_pos (donor) | gap_surprisal | Ri_total | ∆Ri_Total | Min. Fold Change |
|---|---|---|---|---|---|---|---|---|
| +28 | 136575329 | -3.7 | 2.4 | 136575431 | -0.5 | -1.7 | 7.4 | 0.01 |
| +7 | 136575308 | -1.3 | 2.4 | 136575431 | -0.5 | 0.6 | 5.1 | 0.03 |
| -10 | 136575291 | -3.6 | 2.4 | 136575431 | -0.5 | -1.6 | 7.3 | 0.01 |
| -19 | 136575282 | -6.4 | 2.4 | 136575431 | -0.7 | -4.6 | 10.3 | 0.00 |
| +52 | 136575353 | -5.2 | 2.4 | 136575431 | -0.6 | -3.4 | 9.1 | 0.00 |
| +2 | 136575303 | 6.2 | 2.4 | 136575431 | -0.3 | 8.3 | 2.6 | 0.16 |
| +38 | 136575339 | -6.5 | 2.4 | 136575431 | -0.2 | -4.3 | 10.0 | 0.00 |
| +6 | 136575307 | 1.4 | 2.4 | 136575431 | -0.6 | 3.2 | 2.5 | 0.18 |
| -1 | 136575300 | -5.0 | 2.4 | 136575431 | -0.4 | -2.9 | 8.6 | 0.00 |
| +3 | 136575304 | -0.8 | 2.4 | 136575431 | -0.7 | 0.9 | 4.8 | 0.04 |
| -14 | 136575287 | -6.7 | 2.4 | 136575431 | -0.8 | -5.0 | 10.7 | 0.00 |
| +9 | 136575310 | -0.1 | 2.4 | 136575431 | -0.6 | 1.7 | 4.0 | 0.06 |
| 0 | 136575301 | 3.9 | 2.4 | 136575431 | -0.6 | 5.7 | NA | NA |
| +20 | 136575321 | -3.3 | 2.4 | 136575431 | -0.2 | -1.0 | 6.7 | 0.01 |
Mutation: IVS5+13A>G 136575431 donor M11309
Ri total initial is
Pos:
136575431
Ri_total: 12.98
After the mutation takes place, the values are as follows:
| Relative_dist | position | Ri_site | Ri_natural (acceptor) | nat_pos (acceptor) | gap_surprisal | Ri_total | ∆Ri_Total | Min. Fold Change |
|---|---|---|---|---|---|---|---|---|
| -20 | 136575411 | -8.3 | 11.2 | 136575301 | -0.4 | 2.5 | 10.8 | 0.00 |
| +22 | 136575453 | -6.8 | 11.2 | 136575301 | -0.8 | 3.6 | 9.7 | 0.00 |
| +46 | 136575477 | -5.5 | 11.2 | 136575301 | -1.4 | 4.3 | 9.0 | 0.00 |
| +41 | 136575472 | -6.5 | 11.2 | 136575301 | -1.3 | 3.4 | 9.9 | 0.00 |
| +12 | 136575443 | 3.7 | 11.2 | 136575301 | -0.5 | 14.4 | 1.1 | 0.47 |
| +8 | 136575439 | -0.9 | 11.2 | 136575301 | -0.8 | 9.5 | 3.8 | 0.07 |
| +27 | 136575458 | -2.0 | 11.2 | 136575301 | -0.8 | 8.4 | 4.9 | 0.03 |
| 0 | 136575431 | 2.4 | 11.2 | 136575301 | -0.3 | 13.3 | NA | NA |
| -14 | 136575417 | -9.5 | 11.2 | 136575301 | -0.5 | 1.2 | 12.1 | 0.00 |
| +39 | 136575470 | -7.7 | 11.2 | 136575301 | -1.0 | 2.4 | 10.9 | 0.00 |
| -17 | 136575414 | -5.0 | 11.2 | 136575301 | -0.5 | 5.7 | 7.6 | 0.01 |
| +10 | 136575441 | -10.2 | 11.2 | 136575301 | -0.8 | 0.2 | 13.1 | 0.00 |
| +35 | 136575466 | -0.9 | 11.2 | 136575301 | -1.3 | 9.0 | 4.3 | 0.05 |
| +33 | 136575464 | -7.8 | 11.2 | 136575301 | -0.9 | 2.5 | 10.8 | 0.00 |
| -4 | 136575427 | -2.6 | 11.2 | 136575301 | -0.6 | 7.9 | 5.4 | 0.02 |
| -12 | 136575419 | 1.8 | 11.2 | 136575301 | -0.2 | 12.8 | 0.5 | 0.71 |
| -16 | 136575415 | -10.2 | 11.2 | 136575301 | -0.5 | 0.5 | 12.8 | 0.00 |
Gene: ADA
IVS 10 acceptor G->A 35066 35099
The mutation taking place is IVS10-34G>A
Ri total initial is
Pos:
43887472
Ri_total: 19.4
After the mutation takes place, the values are as follows:
| Relative_dist | position | Ri_site | Ri_natural (donor) | nat_pos (donor) | gap_surprisal | Ri_total | ∆Ri_Total | Min. Fold Change |
|---|---|---|---|---|---|---|---|---|
| +22 | 43887494 | -0.3 | 9.6 | 43887368 | -0.6 | 8.7 | 10.5 | 0.00 |
| 0 | 43887472 | 10.0 | 9.6 | 43887368 | -0.5 | 19.2 | NA | NA |
| +25 | 43887497 | -0.8 | 9.6 | 43887368 | -0.7 | 8.2 | 11.0 | 0.00 |
| +10 | 43887482 | 0.8 | 9.6 | 43887368 | -0.5 | 9.9 | 9.3 | 0.00 |
| +32 | 43887504 | 9.3 | 9.6 | 43887368 | -0.4 | 18.4 | 0.8 | 0.57 |
| +26 | 43887498 | 4.8 | 9.6 | 43887368 | -0.3 | 14.1 | 5.1 | 0.03 |
| +33 | 43887505 | 0.0 | 9.6 | 43887368 | -0.8 | 8.9 | 10.3 | 0.00 |
Gene: PAH
IVS10, acceptor, G>A, 76 86
The mutation taking place is IVS10-11G>A, 103170505 acceptor U49897
Ri total initial is
Pos:
103170505
Ri_total: 14.9
After the mutation takes place, the values are as follows:
| Relative_dist | position | Ri_site | Ri_natural (donor) | nat_pos (donor) | gap_surprisal | Ri_total | ∆Ri_Total | Min. Fold Change |
|---|---|---|---|---|---|---|---|---|
| +30 | 103170535 | 1.2 | 10.4 | 103170370 | -1.3 | 10.3 | 4.3 | 0.05 |
| -15 | 103170490 | -2.0 | 10.4 | 103170370 | -0.6 | 7.8 | 6.8 | 0.01 |
| -36 | 103170469 | -2.0 | 10.4 | 103170370 | -0.4 | 8.0 | 6.6 | 0.01 |
| -13 | 103170492 | 2.2 | 10.4 | 103170370 | -0.6 | 12.0 | 2.6 | 0.16 |
| -39 | 103170466 | 2.1 | 10.4 | 103170370 | -0.6 | 11.9 | 2.7 | 0.15 |
| -24 | 103170481 | -6.7 | 10.4 | 103170370 | -0.5 | 3.2 | 11.4 | 0.00 |
| +2 | 103170507 | -5.5 | 10.4 | 103170370 | -0.8 | 4.1 | 10.5 | 0.00 |
| -3 | 103170502 | 0.0 | 10.4 | 103170370 | -0.6 | 9.8 | 4.8 | 0.04 |
| -18 | 103170487 | -3.3 | 10.4 | 103170370 | -0.6 | 6.6 | 8.0 | 0.00 |
| -37 | 103170468 | -3.9 | 10.4 | 103170370 | -0.5 | 6.0 | 8.6 | 0.00 |
| 0 | 103170505 | 4.8 | 10.4 | 103170370 | -0.6 | 14.6 | NA | NA |
| +9 | 103170514 | 2.7 | 10.4 | 103170370 | -0.9 | 12.2 | 2.4 | 0.19 |
| +10 | 103170515 | 0.0 | 10.4 | 103170370 | -0.5 | 9.9 | 4.7 | 0.04 |
| -5 | 103170500 | -4.7 | 10.4 | 103170370 | -0.3 | 5.4 | 9.2 | 0.00 |
| -42 | 103170463 | -2.0 | 10.4 | 103170370 | -0.6 | 7.9 | 6.7 | 0.01 |
| +13 | 103170518 | -6.1 | 10.4 | 103170370 | -0.5 | 3.9 | 10.7 | 0.00 |
Gene: HBB
accession V00497
Mutation: IVS1-15T>G 5207067 acceptor V00497
Ri total initial is
Pos:
5207067
Ri_total: 16.5
After the mutation takes place, the values are as follows:
| Relative_dist | position | Ri_site | Ri_natural (donor) | nat_pos (donor) | gap_surprisal | Ri_total | ∆Ri_Total | Min. Fold Change |
|---|---|---|---|---|---|---|---|---|
| -30 | 5207037 | 1.0 | 9.7 | 5206843 | -1.9 | 8.8 | 6.0 | 0.02 |
| -8 | 5207059 | -5.5 | 9.7 | 5206843 | -2.5 | 1.7 | 13.1 | 0.00 |
| -22 | 5207045 | -5.2 | 9.7 | 5206843 | -1.9 | 2.6 | 12.2 | 0.00 |
| -28 | 5207039 | 2.7 | 9.7 | 5206843 | -1.7 | 10.7 | 4.1 | 0.06 |
| +8 | 5207075 | 0.0 | 9.7 | 5206843 | -2.6 | 7.1 | 7.7 | 0.00 |
| +1 | 5207068 | -5.7 | 9.7 | 5206843 | -2.8 | 1.2 | 13.6 | 0.00 |
| -7 | 5207060 | 1.9 | 9.7 | 5206843 | -2.4 | 9.2 | 5.6 | 0.02 |
| +2 | 5207069 | 0.0 | 9.7 | 5206843 | -2.6 | 7.1 | 7.7 | 0.00 |
| +27 | 5207094 | -4.4 | 9.7 | 5206843 | -3.4 | 1.8 | 13.0 | 0.00 |
| +6 | 5207073 | -0.9 | 9.7 | 5206843 | -2.9 | 5.9 | 8.9 | 0.00 |
| -1 | 5207066 | -3.0 | 9.7 | 5206843 | -2.6 | 4.1 | 10.7 | 0.00 |
| +43 | 5207110 | 2.0 | 9.7 | 5206843 | -3.5 | 8.2 | 6.6 | 0.01 |
| +39 | 5207106 | -6.1 | 9.7 | 5206843 | -3.71 | -0.1 | 14.9 | 0.00 |
| +19 | 5207086 | -3.3 | 9.7 | 5206843 | -3.1 | 3.2 | 11.6 | 0.00 |
| -4 | 5207063 | -2.9 | 9.7 | 5206843 | -2.4 | 4.4 | 10.4 | 0.00 |
| -16 | 5207051 | -7.1 | 9.7 | 5206843 | -2.1 | 0.5 | 14.3 | 0.00 |
| +4 | 5207071 | -6.7 | 9.7 | 5206843 | -2.9 | 0.1 | 14.7 | 0.00 |
| +14 | 5207081 | 5.1 | 9.7 | 5206843 | -2.9 | 11.8 | 3.0 | 0.12 |
| +22 | 5207089 | -5.8 | 9.7 | 5206843 | -3.4 | 0.5 | 14.3 | 0.00 |
| +7 | 5207074 | 0.0 | 9.7 | 5206843 | -2.9 | 6.7 | 8.1 | 0.00 |
| -10 | 5207057 | -5.8 | 9.7 | 5206843 | -2.1 | 1.8 | 13.0 | 0.00 |
| -21 | 5207046 | -4.1 | 9.7 | 5206843 | -2.1 | 3.5 | 11.3 | 0.00 |
| +37 | 5207104 | -6.5 | 9.7 | 5206843 | -3.7 | -0.6 | 15.4 | 0.00 |
| -11 | 5207056 | 0.0 | 9.7 | 5206843 | -2.5 | 7.2 | 7.6 | 0.01 |
| 0 | 5207067 | 7.7 | 9.7 | 5206843 | -2.5 | 14.8 | NA | NA |
| +20 | 5207087 | 1.4 | 9.7 | 5206843 | -3.1 | 8.0 | 6.8 | 0.01 |
Mutation: IVS2-2A>G 5205994 acceptor V00497
Ri total initial is
Pos:
5205994
Ri_total: -16.4
After the mutation takes place, the values are as follows:
| Relative_dist | position | Ri_site | Ri_natural (donor) | nat_pos (donor) | gap_surprisal | Ri_total | ∆Ri_Total | Min. Fold Change |
|---|---|---|---|---|---|---|---|---|
| -30 | 5205964 | -4.5 | -25.9 | 5205732 | -2.6 | -33.0 | 8.8 | 0.00 |
| -8 | 5205986 | -5.7 | -25.9 | 5205732 | -3.4 | -35.1 | 10.9 | 0.00 |
| +1 | 5205995 | 2.9 | -25.9 | 5205732 | -3.7 | -26.7 | 2.5 | 0.18 |
| -7 | 5205987 | 0.3 | -25.9 | 5205732 | -3.3 | -29.0 | 4.8 | 0.04 |
| +2 | 5205996 | 7.0 | -25.9 | 5205732 | -3.7 | -22.7 | 1.5 | 0.35 |
| +27 | 5206021 | -5.8 | -25.9 | 5205732 | -3.2 | -34.9 | 10.7 | 0.00 |
| -43 | 5205951 | -5.3 | -25.9 | 5205732 | -2.6 | -33.9 | 9.7 | 0.00 |
| +6 | 5206000 | -4.4 | -25.9 | 5205732 | -3.2 | -33.6 | 9.4 | 0.00 |
| -5 | 5205989 | -7.0 | -25.9 | 5205732 | -3.8 | -36.8 | 12.6 | 0.00 |
| -12 | 5205982 | -5.8 | -25.9 | 5205732 | -3.1 | -34.8 | 10.6 | 0.00 |
| +4 | 5205998 | -3.9 | -25.9 | 5205732 | -3.7 | -33.6 | 9.4 | 0.00 |
| -6 | 5205988 | 3.0 | -25.9 | 5205732 | -3.1 | -26.0 | 1.8 | 0.29 |
| +28 | 5206022 | -2.3 | -25.9 | 5205732 | -3.6 | -31.8 | 7.6 | 0.01 |
| +5 | 5205999 | -5.7 | -25.9 | 5205732 | -3.5 | -35.2 | 11.0 | 0.00 |
| +22 | 5206016 | -4.9 | -25.9 | 5205732 | -3.9 | -34.8 | 10.6 | 0.00 |
| +7 | 5206001 | -7.2 | -25.9 | 5205732 | -3.8 | -37.0 | 12.8 | 0.00 |
| -44 | 5205950 | -5.9 | -25.9 | 5205732 | -2.7 | -34.6 | 10.4 | 0.00 |
| -36 | 5205958 | -6.9 | -25.9 | 5205732 | -2.6 | -35.5 | 11.3 | 0.00 |
| -39 | 5205955 | -4.5 | -25.9 | 5205732 | -2.6 | -33.1 | 8.9 | 0.00 |
| -3 | 5205991 | -5.0 | -25.9 | 5205732 | -3.1 | -34.1 | 9.9 | 0.00 |
| -18 | 5205976 | -3.9 | -25.9 | 5205732 | -3.1 | -32.9 | 8.7 | 0.00 |
| +3 | 5205997 | -3.1 | -25.9 | 5205732 | -3.3 | -32.3 | 8.1 | 0.00 |
| -11 | 5205983 | -3.9 | -25.9 | 5205732 | -3.4 | -33.3 | 9.1 | 0.00 |
| 0 | 5205994 | 5.2 | -25.9 | 5205732 | -3.4 | -24.2 | NA | NA |
| -49 | 5205945 | -0.2 | -25.9 | 5205732 | -2.5 | -28.6 | 4.4 | 0.05 |
| +20 | 5206014 | -3.8 | -25.9 | 5205732 | -3.4 | -33.2 | 9.0 | 0.00 |
| -47 | 5205947 | -4.2 | -25.9 | 5205732 | -2.5 | -32.6 | 8.4 | 0.00 |
| +13 | 5206007 | -3.6 | -25.9 | 5205732 | -3.8 | -33.4 | 9.2 | 0.00 |
Gene: CFTR
type is donor
The mutation taking place is IVS13+1G>A,
116771195 donor M28668
Ri total initial is
Pos:
116771195
Ri_total: 20.1
After the mutation takes place, the values are as follows:
| Relative_dist | position | Ri_site | Ri_natural (acceptor) | nat_pos (acceptor) | gap_surprisal | Ri_total | ∆Ri_Total | Min. Fold Change |
|---|---|---|---|---|---|---|---|---|
| -29 | 116771166 | -4.8 | 11.7 | 116771107 | -1.2 | 5.7 | 1.7 | 0.31 |
| -7 | 116771188 | -5.1 | 11.7 | 116771107 | -0.6 | 5.9 | 1.5 | 0.35 |
| -14 | 116771181 | -4.3 | 11.7 | 116771107 | -0.6 | 6.8 | 0.6 | 0.66 |
| -5 | 116771190 | -4.2 | 11.7 | 116771107 | -0.5 | 6.9 | 0.5 | 0.71 |
| +4 | 116771199 | -4.2 | 11.7 | 116771107 | -0.6 | 6.9 | 0.5 | 0.71 |
| -20 | 116771175 | -5.0 | 11.7 | 116771107 | -0.8 | 5.8 | 1.6 | 0.33 |
| 0 | 116771195 | -3.9 | 11.7 | 116771107 | -0.4 | 7.4 | NA | NA |
Mutation: IVS2-3C>T 116689788 acceptor M28668
Ri total initial is
Pos:
116689788
Ri_total: 21.2
After the mutation takes place, the values are as follows:
| Relative_dist | position | Ri_site | Ri_natural (donor) | nat_pos (donor) | gap_surprisal | Ri_total | ∆Ri_Total | Min. Fold Change |
|---|---|---|---|---|---|---|---|---|
| +2 | 116689790 | 5.7 | 8.1 | 116689898 | -0.4 | 13.3 | 6.2 | 0.01 |
| -17 | 116689771 | -3.7 | 8.1 | 116689898 | -0.7 | 3.7 | 15.8 | 0.00 |
| +28 | 116689816 | -5.0 | 8.1 | 116689898 | -0.6 | 2.5 | 17.0 | 0.00 |
| +5 | 116689793 | -4.3 | 8.1 | 116689898 | -0.5 | 3.3 | 16.2 | 0.00 |
| -10 | 116689778 | -3.3 | 8.1 | 116689898 | -0.6 | 4.1 | 15.4 | 0.00 |
| -24 | 116689764 | -4.5 | 8.1 | 116689898 | -0.5 | 3.1 | 16.4 | 0.00 |
| -3 | 116689785 | 1.9 | 8.1 | 116689898 | -0.1 | 9.8 | 9.7 | 0.00 |
| 0 | 116689788 | 11.6 | 8.1 | 116689898 | -0.2 | 19.5 | NA | NA |
Legend:
Relative_dist: Distance of the coordinate from the respective natural site.
position: Position of the site in genomic coordinates.
Ri_site: Information content of the site.
Ri_natural: Information content of opposite polarity natural site.
nat_pos: Position of the opposite polarity natural site in genomic coordinates.
gap_surprisal: Gap surprisal corresponding to the length of the considered distance sites.
Ri_total: Ri-total of the considered exon.
∆Ri_Total: Difference between Ri total at the site and Ri total of natural site.
Min. Fold Change: 1 / ( 2∆Ri_Total).
indicates the row correspoding to natural site.
indicates the row corresposding to the
cryptic site indicated in the Reference
Paper.
indicates the information content prior to
mutation taking place.