List of 14 variants selected
| Gene . | Chromosome . | Position . | Ref . | Var . | Consequence . | Protein position . | AA change . | No. single cells (n = 22) . | P . | Differentially expressed in CXCR4mut vs CXCR4wt patients* . |
|---|---|---|---|---|---|---|---|---|---|---|
| SCAPER | 15 | 76646031 | C | A | Intron variant | NA | NA | 7 | .017 | No |
| TMEM14B | 6 | 10748058 | C | T | 5′ UTR variant | NA | NA | 9 | .03 | No |
| MACROD2 | 20 | 15161087 | G | T | Intron variant | NA | NA | 6 | .05 | Yes |
| LNX1 | 4 | 54385495 | G | A | Intron variant | NA | NA | 5 | .05 | Yes |
| CCSER1 | 4 | 92040821 | T | G | Intron variant | NA | NA | 8 | .074 | No |
| LRMP | 12 | 25227005 | G | C | Intron variant | NA | NA | 8 | .07 | No |
| DCUN1D4 | 4 | 52756917 | G | T | Intron variant | NA | NA | 8 | .074 | No |
| UVRAG | 11 | 75783330 | G | T | Intron variant | NA | NA | 8 | .07 | Yes |
| SPON1 | 11 | 14043635 | C | T | Intron variant | NA | NA | 11 | .080 | No |
| BTG2 | 1 | 203275298 | T | G | Intron variant | NA | NA | 10 | .09 | No |
| OSGEPL1 | 2 | 190620347 | A | G | Intron variant | NA | NA | 10 | .09 | No |
| DAB2 | 5 | 39407706 | T | C | Intron variant | NA | NA | 10 | .099 | No |
| VTA1 | 6 | 142509639 | C | T | Intron variant | NA | NA | 10 | .099 | Yes |
| EXOC6B | 2 | 72611453 | T | TA | Intron variant | NA | NA | 8 | .074 | No |
| Gene . | Chromosome . | Position . | Ref . | Var . | Consequence . | Protein position . | AA change . | No. single cells (n = 22) . | P . | Differentially expressed in CXCR4mut vs CXCR4wt patients* . |
|---|---|---|---|---|---|---|---|---|---|---|
| SCAPER | 15 | 76646031 | C | A | Intron variant | NA | NA | 7 | .017 | No |
| TMEM14B | 6 | 10748058 | C | T | 5′ UTR variant | NA | NA | 9 | .03 | No |
| MACROD2 | 20 | 15161087 | G | T | Intron variant | NA | NA | 6 | .05 | Yes |
| LNX1 | 4 | 54385495 | G | A | Intron variant | NA | NA | 5 | .05 | Yes |
| CCSER1 | 4 | 92040821 | T | G | Intron variant | NA | NA | 8 | .074 | No |
| LRMP | 12 | 25227005 | G | C | Intron variant | NA | NA | 8 | .07 | No |
| DCUN1D4 | 4 | 52756917 | G | T | Intron variant | NA | NA | 8 | .074 | No |
| UVRAG | 11 | 75783330 | G | T | Intron variant | NA | NA | 8 | .07 | Yes |
| SPON1 | 11 | 14043635 | C | T | Intron variant | NA | NA | 11 | .080 | No |
| BTG2 | 1 | 203275298 | T | G | Intron variant | NA | NA | 10 | .09 | No |
| OSGEPL1 | 2 | 190620347 | A | G | Intron variant | NA | NA | 10 | .09 | No |
| DAB2 | 5 | 39407706 | T | C | Intron variant | NA | NA | 10 | .099 | No |
| VTA1 | 6 | 142509639 | C | T | Intron variant | NA | NA | 10 | .099 | Yes |
| EXOC6B | 2 | 72611453 | T | TA | Intron variant | NA | NA | 8 | .074 | No |
We used the Fisher's exact test in the whole-genome data to find mutations whose presence differed significantly (or close, P < .1) between both groups of cells (CXCR4 mutant vs wild type). From the total of 63 significant variants, we selected 14 based on the expression of the gene in WM and/or normal B cells according to data from a previous work.16
AA, amino acid; NA, not applicable; Ref, reference; UTR, untranslated region; Var, variant.
Data from a cohort of 56 patients evaluated by RNASeq.16