Summary of mutations discovered in the S1PR1 gene in our MCL cohort
| Gene . | Nucleotide change . | AA change . | Found in WES . | Found in Sanger . | Mutated tumor . | Novel or not . | CADD scores . | SIFT . | PolyPhen-2 . |
|---|---|---|---|---|---|---|---|---|---|
| S1PR1 | c.14_21delGCGTCCC | p.V6Wfs | Yes | 1 (P170,R) | Novel | 24 | N.A. | N.A. | |
| c.19_20 insGGGA | p.P7Rfs | Yes | 1 (P56) | Novel | 23.6 | N.A. | N.A. | ||
| c.154_155 insGT | p.F52Cfs | Yes | 1 (P18,R) | Novel | 28.8 | N.A. | N.A. | ||
| c.186_201delGAACATCTTTGTCTT | p.N63Ldel (NIFVL) | Yes | 1 (P166) | Novel | 20.3 | N.A. | N.A. | ||
| c.201_202 insT | p.L67Ffs | Yes | 1 (P36) | Novel | 32 | N.A. | N.A. | ||
| c.T209G | p.I70S | Yes | Yes | 1 (P6) | Novel | 27.2 | Damaging | Damaging | |
| c.226_227 insGACACCTGTTGGCAGGAGTAGCCTACACAGCTAACCTGCTCTTG | p.F76Sfs | Yes | 1 (P45) | Novel | 27.7 | N.A. | N.A. | ||
| c.361 G>T | p.E121* | Yes | 1 (P47) | Novel | 36 | N.A. | N.A. | ||
| c.362_363 delA | p.S123Vfs | Yes | 1 (P47) | Novel | 27.5 | N.A. | N.A. | ||
| c.366_367insG | p.S123Efs | Yes | Yes | 3 (P9; P9,R1; P9,R2) | Novel | 26.8 | N.A. | N.A. | |
| c.367 A>G | p.S123G | Yes | 1 (P236,R) | Novel | 8.766 | Damaging | Damaging | ||
| c.410 C>A | p.A137V | Yes | 1 (P235,R) | Novel | 28.9 | Damaging | Damaging | ||
| c.475_476delC | p.R159Afs | Yes | 1 (P172,R) | Novel | 23.7 | N.A. | N.A. | ||
| c.535_536 insT | p.I179Yfs | Yes | 1 (P48) | Novel | 28.8 | N.A. | N.A. | ||
| c.743_744 insT | p.S249* | Yes | 1 (P242) | Novel | 34 | N.A. | N.A. |
| Gene . | Nucleotide change . | AA change . | Found in WES . | Found in Sanger . | Mutated tumor . | Novel or not . | CADD scores . | SIFT . | PolyPhen-2 . |
|---|---|---|---|---|---|---|---|---|---|
| S1PR1 | c.14_21delGCGTCCC | p.V6Wfs | Yes | 1 (P170,R) | Novel | 24 | N.A. | N.A. | |
| c.19_20 insGGGA | p.P7Rfs | Yes | 1 (P56) | Novel | 23.6 | N.A. | N.A. | ||
| c.154_155 insGT | p.F52Cfs | Yes | 1 (P18,R) | Novel | 28.8 | N.A. | N.A. | ||
| c.186_201delGAACATCTTTGTCTT | p.N63Ldel (NIFVL) | Yes | 1 (P166) | Novel | 20.3 | N.A. | N.A. | ||
| c.201_202 insT | p.L67Ffs | Yes | 1 (P36) | Novel | 32 | N.A. | N.A. | ||
| c.T209G | p.I70S | Yes | Yes | 1 (P6) | Novel | 27.2 | Damaging | Damaging | |
| c.226_227 insGACACCTGTTGGCAGGAGTAGCCTACACAGCTAACCTGCTCTTG | p.F76Sfs | Yes | 1 (P45) | Novel | 27.7 | N.A. | N.A. | ||
| c.361 G>T | p.E121* | Yes | 1 (P47) | Novel | 36 | N.A. | N.A. | ||
| c.362_363 delA | p.S123Vfs | Yes | 1 (P47) | Novel | 27.5 | N.A. | N.A. | ||
| c.366_367insG | p.S123Efs | Yes | Yes | 3 (P9; P9,R1; P9,R2) | Novel | 26.8 | N.A. | N.A. | |
| c.367 A>G | p.S123G | Yes | 1 (P236,R) | Novel | 8.766 | Damaging | Damaging | ||
| c.410 C>A | p.A137V | Yes | 1 (P235,R) | Novel | 28.9 | Damaging | Damaging | ||
| c.475_476delC | p.R159Afs | Yes | 1 (P172,R) | Novel | 23.7 | N.A. | N.A. | ||
| c.535_536 insT | p.I179Yfs | Yes | 1 (P48) | Novel | 28.8 | N.A. | N.A. | ||
| c.743_744 insT | p.S249* | Yes | 1 (P242) | Novel | 34 | N.A. | N.A. |
Two hundred samples in total, including cases characterized by WES.17
AA, amino acid; N.A., not applicable; R, relapse.