Last updated: 2023-02-15

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Knit directory: cTWAS_analysis/

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analysis_id <- params$analysis_id
trait_id <- params$trait_id
weight <- params$weight

results_dir <- paste0("/project2/xinhe/shengqian/cTWAS/cTWAS_analysis/data/", trait_id, "/", weight)

source("/project2/xinhe/shengqian/cTWAS/cTWAS_analysis/code/ctwas_config_b38.R")
options(digits = 4)

Load ctwas results

Check convergence of parameters

Version Author Date
6286c34 sq-96 2023-02-02
a762568 sq-96 2023-02-02
c5aaf96 sq-96 2023-02-02
#estimated group prior
estimated_group_prior <- estimated_group_prior_all[,ncol(group_prior_rec)]
print(estimated_group_prior)
                    SNP             Whole_Blood    Whole_Blood_Splicing 
              0.0001751               0.0225055               0.0052580 
Whole_Blood_Methylation 
              0.0108737 
#estimated group prior variance
estimated_group_prior_var <- estimated_group_prior_var_all[,ncol(group_prior_var_rec)]
print(estimated_group_prior_var)
                    SNP             Whole_Blood    Whole_Blood_Splicing 
                  15.55                   19.40                   29.53 
Whole_Blood_Methylation 
                  14.35 
#estimated enrichment
estimated_enrichment <- estimated_enrichment_all[ncol(group_prior_var_rec)]
print(estimated_enrichment)
[1] 61.79
#report sample size
print(sample_size)
[1] 350470
#report group size
print(group_size)
                    SNP             Whole_Blood    Whole_Blood_Splicing 
                8696600                   11198                   20134 
Whole_Blood_Methylation 
                  11858 
#estimated group PVE
estimated_group_pve <- estimated_group_pve_all[,ncol(group_prior_rec)]
print(estimated_group_pve)
                    SNP             Whole_Blood    Whole_Blood_Splicing 
               0.067547                0.013950                0.008919 
Whole_Blood_Methylation 
               0.005278 
#total PVE
sum(estimated_group_pve)
[1] 0.09569
#attributable PVE
estimated_group_pve/sum(estimated_group_pve)
                    SNP             Whole_Blood    Whole_Blood_Splicing 
                0.70586                 0.14578                 0.09320 
Whole_Blood_Methylation 
                0.05515 

Top expression/intron/CpG units

      genename                      gene_id susie_pip       group region_tag
39936      FES           ENSG00000182511.11    1.0000  Expression      15_43
43125     YBEY  intron_21_46287123_46296162    1.0000    Splicing      21_24
38047    TAGAP           ENSG00000164691.16    1.0000  Expression      6_103
36651 ARHGAP15           ENSG00000075884.13    1.0000  Expression       2_85
41903     CNN2    intron_19_1032696_1036130    1.0000    Splicing       19_2
36665    BAZ2B           ENSG00000123636.17    0.9999  Expression       2_96
38535    VLDLR           ENSG00000147852.15    0.9999  Expression        9_3
38156    CREB5           ENSG00000146592.16    0.9991  Expression       7_24
37171   MED12L           ENSG00000144893.12    0.9981  Expression       3_93
35946   LAPTM5            ENSG00000162511.7    0.9981  Expression       1_20
37527  SLC22A4            ENSG00000197208.5    0.9966  Expression       5_79
37106    ATXN7           ENSG00000163635.17    0.9965  Expression       3_43
39549     FLT3  intron_13_28024943_28027088    0.9949    Splicing       13_7
36279    CNIH4           ENSG00000143771.11    0.9948  Expression      1_114
39447    ALDH2           ENSG00000111275.12    0.9941  Expression      12_67
39604    LAMP1           ENSG00000185896.10    0.9931  Expression      13_62
36089 SLC25A24           ENSG00000085491.15    0.9924  Expression       1_67
43166    HDHD5           ENSG00000069998.12    0.9912  Expression       22_1
41827   TTC39C           ENSG00000168234.12    0.9872  Expression      18_12
41159    YPEL2            ENSG00000175155.8    0.9846  Expression      17_34
38704     LIPA           ENSG00000107798.17    0.9839  Expression      10_57
41100   KIF18B           ENSG00000186185.13    0.9837  Expression      17_26
39339   ACVRL1                   cg21236262    0.9824 Methylation      12_33
38973    PTPRJ           ENSG00000149177.12    0.9824  Expression      11_29
37291    ARAP2           ENSG00000047365.11    0.9783  Expression       4_30
37629    CPEB4           ENSG00000113742.12    0.9741  Expression      5_104
40700    MYO1C                   cg02622416    0.9736 Methylation       17_2
40445    ZFPM1            ENSG00000179588.8    0.9711  Expression      16_54
38575    OSTF1           ENSG00000134996.11    0.9691  Expression       9_35
39588    KLF12           ENSG00000118922.17    0.9685  Expression      13_36
36440    ITSN2   intron_2_24209221_24209818    0.9663    Splicing       2_14
37693    ATXN1           ENSG00000124788.17    0.9616  Expression       6_13
38633     NEK6           ENSG00000119408.16    0.9567  Expression       9_64
36934   UQCRC1           ENSG00000010256.10    0.9555  Expression       3_34
40367     GLG1           ENSG00000090863.11    0.9553  Expression      16_40
37233     ADD1           ENSG00000087274.16    0.9550  Expression        4_4
37348     TET2           ENSG00000168769.13    0.9535  Expression       4_69
36222     SELL            ENSG00000188404.8    0.9505  Expression       1_83
36005   CITED4            ENSG00000179862.6    0.9505  Expression       1_25
37276  TBC1D14           ENSG00000132405.18    0.9442  Expression        4_8
37664     CANX intron_5_179699102_179705679    0.9434    Splicing      5_108
36622   HS6ST1            ENSG00000136720.6    0.9385  Expression       2_75
36670    CD302            ENSG00000241399.6    0.9303  Expression       2_96
39154      CD6                   cg27098804    0.9266 Methylation      11_34
36067   CDC14A           ENSG00000079335.18    0.9259  Expression       1_61
37398   DDX60L           ENSG00000181381.13    0.9238  Expression      4_109
42503  ATP13A1           ENSG00000105726.16    0.9228  Expression      19_15
42362    MYO9B           ENSG00000099331.13    0.9165  Expression      19_14
40361    ITGAL                   cg24033122    0.9158 Methylation      16_24
42233    AP1M2           ENSG00000129354.11    0.9144  Expression       19_9
36881     CCR8            ENSG00000179934.6    0.9073  Expression       3_28
37134    PAQR9            ENSG00000188582.8    0.9002  Expression       3_87
37511  TNFAIP8            ENSG00000145779.7    0.8984  Expression       5_72
37439    RAI14           ENSG00000039560.13    0.8925  Expression       5_23
38269    CPSF4           ENSG00000160917.14    0.8870  Expression       7_61
37608   ADAM19           ENSG00000135074.15    0.8862  Expression       5_93
36265     NCF2 intron_1_183570839_183573185    0.8821    Splicing       1_91
41207 SLC9A3R1           ENSG00000109062.11    0.8776  Expression      17_42
37185    ABCC5           ENSG00000114770.16    0.8707  Expression      3_112
41423    UBE2O           ENSG00000175931.12    0.8706  Expression      17_43
37312     REST           ENSG00000084093.16    0.8678  Expression       4_41
39271    CERS5  intron_12_50134068_50134546    0.8677    Splicing      12_33
42844    UBOX5           ENSG00000185019.16    0.8644  Expression       20_5
36462     DTNB           ENSG00000138101.18    0.8556  Expression       2_15
37475    ZBED3            ENSG00000132846.5    0.8554  Expression       5_45
38383     ACHE           ENSG00000087085.13    0.8461  Expression       7_62
38011  L3MBTL3            ENSG00000198945.7    0.8426  Expression       6_86
37418     NPR3           ENSG00000113389.15    0.8420  Expression       5_22
37369     LRBA intron_4_150278004_150282450    0.8388    Splicing       4_98
37420   MTMR12           ENSG00000150712.10    0.8381  Expression       5_22
36185    RCSD1           ENSG00000198771.10    0.8329  Expression       1_82
41409    JMJD6           ENSG00000070495.14    0.8306  Expression      17_43
37118   PXYLP1           ENSG00000155893.12    0.8284  Expression       3_86
39582     KLF5           ENSG00000102554.13    0.8242  Expression      13_35
41886    ELANE            ENSG00000197561.6    0.8125  Expression       19_2
38127    JAZF1           ENSG00000153814.11    0.8109  Expression       7_23
37994     HSF2           ENSG00000025156.12    0.8108  Expression       6_82
39810  ZFP36L1            ENSG00000185650.9    0.8106  Expression      14_33
42600     LSM4                   cg15796753    0.8058 Methylation      19_15
38758     RBP4           ENSG00000138207.13    0.8035  Expression      10_59

Top genes by expression/splicing/methylation pip

      genename susie_pip       group
13036    MYO1G    1.3514    Splicing
18333    NINJ2    1.1701 Methylation
15394  TSPAN32    1.1599    Splicing
16152     AMZ1    1.0639 Methylation
12354    ITSN2    1.0254    Splicing
14458   SIRPB1    1.0210    Splicing
18816   PTPRN2    1.0060 Methylation
12655      LYZ    1.0001    Splicing
11001     CNN2    1.0000    Splicing
2988       FES    1.0000  Expression
15750     YBEY    1.0000    Splicing
8211     TAGAP    1.0000  Expression
536   ARHGAP15    1.0000  Expression
812      BAZ2B    0.9999  Expression
9260     VLDLR    0.9999  Expression
13952    RAB34    0.9995    Splicing
1935     CREB5    0.9991  Expression
17144     ELK3    0.9989 Methylation
4774    MED12L    0.9981  Expression
4334    LAPTM5    0.9981  Expression
7574   SLC22A4    0.9966  Expression
750      ATXN7    0.9965  Expression
11772     FLT3    0.9955    Splicing
1761     CNIH4    0.9948  Expression
315      ALDH2    0.9941  Expression
10662     CANX    0.9939    Splicing
4324     LAMP1    0.9931  Expression
7591  SLC25A24    0.9924  Expression
3601     HDHD5    0.9912  Expression
19344   SPTLC2    0.9895 Methylation
8964    TTC39C    0.9872  Expression
9441     YPEL2    0.9846  Expression
4431      LIPA    0.9839  Expression
4188    KIF18B    0.9837  Expression
16046   ACVRL1    0.9824 Methylation
6614     PTPRJ    0.9824  Expression
15239 TNFRSF1A    0.9794    Splicing
517      ARAP2    0.9783  Expression
1896     CPEB4    0.9741  Expression
18244    MYO1C    0.9736 Methylation
9547     ZFPM1    0.9711  Expression
19006    RRBP1    0.9698 Methylation
5750     OSTF1    0.9691  Expression
4219     KLF12    0.9685  Expression
744      ATXN1    0.9616  Expression
5376      NEK6    0.9567  Expression
9163    UQCRC1    0.9555  Expression
3293      GLG1    0.9553  Expression
181       ADD1    0.9550  Expression
8342      TET2    0.9535  Expression
19040    SBNO2    0.9509 Methylation
7349      SELL    0.9505  Expression
1658    CITED4    0.9505  Expression
8245   TBC1D14    0.9442  Expression
13092     NCF2    0.9422    Splicing
3753    HS6ST1    0.9385  Expression
15137    TMCC2    0.9337    Splicing
1386     CD302    0.9303  Expression
16612      CD6    0.9266 Methylation
1422    CDC14A    0.9259  Expression
2212    DDX60L    0.9238  Expression
706    ATP13A1    0.9228  Expression
5206     MYO9B    0.9165  Expression
17736    ITGAL    0.9161 Methylation
452      AP1M2    0.9144  Expression
1345      CCR8    0.9073  Expression
12807  MFSD13A    0.9073    Splicing
13846     PSD4    0.9016    Splicing
5828     PAQR9    0.9002  Expression
8661   TNFAIP8    0.8984  Expression
19844    ZBTB2    0.8967 Methylation
6744     RAI14    0.8925  Expression
1912     CPSF4    0.8870  Expression
154     ADAM19    0.8862  Expression
15682    WDFY2    0.8849    Splicing
7716  SLC9A3R1    0.8776  Expression
36       ABCC5    0.8707  Expression
9069     UBE2O    0.8706  Expression
6880      REST    0.8678  Expression
10886    CERS5    0.8677    Splicing
9089     UBOX5    0.8644  Expression
13614    PLCB2    0.8623    Splicing
17282   FBRSL1    0.8596 Methylation
2424      DTNB    0.8556  Expression
9457     ZBED3    0.8554  Expression
91        ACHE    0.8461  Expression
4310   L3MBTL3    0.8426  Expression
5534      NPR3    0.8420  Expression
19723    UBE2I    0.8420 Methylation
12594     LRBA    0.8388    Splicing
5123    MTMR12    0.8381  Expression
6854     RCSD1    0.8329  Expression
4077     JMJD6    0.8306  Expression
6643    PXYLP1    0.8284  Expression
4223      KLF5    0.8242  Expression
10712  CCDC125    0.8207    Splicing
2581     ELANE    0.8125  Expression
4074     JAZF1    0.8109  Expression
3770      HSF2    0.8108  Expression
9537   ZFP36L1    0.8106  Expression
17992     LSM4    0.8058 Methylation
16212   APOLD1    0.8042 Methylation
6832      RBP4    0.8035  Expression

Top genes by combined PIP

      genename combined_pip expression_pip splicing_pip methylation_pip
11761    YPEL2        1.753          0.985        0.000           0.768
5450    LAPTM5        1.744          0.998        0.002           0.744
665   ARHGAP15        1.723          1.000        0.680           0.042
6495     MYO1G        1.433          0.082        1.351           0.000
9593   SLC45A4        1.313          0.786        0.509           0.018
2770    DDX60L        1.245          0.924        0.322           0.000
10814  TNFAIP8        1.238          0.898        0.120           0.219
4508     HDHD5        1.217          0.991        0.226           0.000
6779     NINJ2        1.209          0.033        0.006           1.170
5772       LYZ        1.183          0.182        1.000           0.000
9946    SPTLC2        1.176          0.187        0.000           0.989
11126  TSPAN32        1.163          0.004        1.160           0.000
8908     RRBP1        1.129          0.066        0.093           0.970
9412   SLC12A7        1.093          0.416        0.011           0.666
921      ATXN1        1.086          0.962        0.058           0.067
98       ACAP1        1.083          0.349        0.015           0.719
5067     ITSN2        1.071          0.033        1.025           0.013
452       AMZ1        1.064          0.000        0.000           1.064
9375    SIRPB1        1.058          0.037        1.021           0.000
4984    IQGAP2        1.056          0.443        0.589           0.024
228       ADD1        1.055          0.955        0.100           0.000
7999     PPP5C        1.050          0.436        0.004           0.610
11848  ZDHHC18        1.048          0.009        0.590           0.450
6808     NLRC5        1.047          0.676        0.074           0.297
3336     EOMES        1.043          0.645        0.009           0.389
3258      ELK3        1.041          0.031        0.012           0.999
927      ATXN7        1.040          0.997        0.043           0.000
3663    FBRSL1        1.039          0.063        0.117           0.860
10828 TNFRSF1A        1.037          0.016        0.979           0.042
8263     PTPRJ        1.035          0.982        0.015           0.038
10315  TBC1D14        1.031          0.944        0.062           0.025
1699     CD101        1.028          0.702        0.006           0.320
2203     CNIH4        1.018          0.995        0.023           0.000
5984    MED12L        1.015          0.998        0.000           0.017
384      ALDH2        1.014          0.994        0.020           0.000
3755       FES        1.012          1.000        0.012           0.000
5296     KLF12        1.007          0.968        0.038           0.000
8267    PTPRN2        1.006          0.000        0.000           1.006
3398    ERICH1        1.004          0.046        0.203           0.754
11531    VLDLR        1.004          1.000        0.004           0.000
2424     CREB5        1.001          0.999        0.002           0.000
8363     RAB34        1.001          0.001        1.000           0.000
10273    TAGAP        1.001          1.000        0.001           0.000
1010     BAZ2B        1.000          1.000        0.001           0.000
2206      CNN2        1.000          0.000        1.000           0.000
2377     CPEB4        1.000          0.974        0.000           0.025
6491     MYO1C        1.000          0.026        0.000           0.974
11741     YBEY        1.000          0.000        1.000           0.000
639      ARAP2        0.999          0.978        0.021           0.000
9455   SLC22A4        0.998          0.997        0.002           0.000
9476  SLC25A24        0.997          0.992        0.004           0.000
3829      FLT3        0.995          0.000        0.995           0.000
1445      CANX        0.994          0.000        0.994           0.000
5437     LAMP1        0.993          0.993        0.000           0.000
7197     OSTF1        0.992          0.969        0.023           0.000
5567      LIPA        0.991          0.984        0.006           0.001
8810      RORC        0.991          0.776        0.000           0.216
1732      CD33        0.990          0.039        0.767           0.184
11173   TTC39C        0.988          0.987        0.001           0.000
5253    KIF18B        0.984          0.984        0.000           0.000
7704     PLCB2        0.984          0.121        0.862           0.000
175     ACVRL1        0.982          0.000        0.000           0.982
10605    TMCC2        0.978          0.044        0.934           0.000
10956 TRAF3IP3        0.978          0.686        0.292           0.000
11888    ZFPM1        0.973          0.971        0.001           0.000
11295    UBE2I        0.968          0.067        0.059           0.842
6709      NEK6        0.966          0.957        0.004           0.006
7054     NUP88        0.965          0.172        0.767           0.026
3055      DTNB        0.962          0.856        0.005           0.102
4139      GLG1        0.958          0.955        0.003           0.000
9609   SLC5A11        0.958          0.302        0.000           0.656
11326    UBOX5        0.957          0.864        0.092           0.000
10429     TET2        0.956          0.953        0.003           0.000
11413   UQCRC1        0.956          0.956        0.000           0.000
4698    HS6ST1        0.955          0.939        0.000           0.016
9172      SELL        0.955          0.951        0.005           0.000
9046     SBNO2        0.952          0.000        0.001           0.951
2078    CITED4        0.951          0.951        0.000           0.000
6162       MLX        0.949          0.735        0.214           0.000
6611      NCF2        0.942          0.000        0.942           0.000
11789    ZBTB2        0.936          0.040        0.000           0.897
4375      GSAP        0.932          0.630        0.262           0.040
1730     CD302        0.930          0.930        0.000           0.000
1750       CD6        0.928          0.000        0.001           0.927
1771    CDC14A        0.926          0.926        0.000           0.000
867    ATP13A1        0.925          0.923        0.002           0.000
1299  C20orf96        0.920          0.721        0.060           0.138
11614    WDFY2        0.918          0.000        0.885           0.034
46       ABCC5        0.917          0.871        0.019           0.027
6504     MYO9B        0.917          0.917        0.000           0.000
5036     ITGAL        0.916          0.000        0.000           0.916
562      AP1M2        0.914          0.914        0.000           0.000
5219  KIAA0040        0.914          0.067        0.085           0.762
8422     RAI14        0.913          0.892        0.000           0.021
1684      CCR8        0.907          0.907        0.000           0.000
6077   MFSD13A        0.907          0.000        0.907           0.000
6401    MTMR12        0.902          0.838        0.064           0.000
8152      PSD4        0.902          0.000        0.902           0.000
186     ADAM19        0.900          0.886        0.005           0.008
7296     PAQR9        0.900          0.900        0.000           0.000
9005      SAE1        0.894          0.622        0.272           0.000
2396     CPSF4        0.887          0.887        0.000           0.000
5841    MAP2K5        0.880          0.070        0.030           0.780
9639  SLC9A3R1        0.878          0.878        0.000           0.000
1733      CD36        0.877          0.563        0.314           0.000
5089     JAZF1        0.874          0.811        0.063           0.000
5661    LRRC25        0.873          0.735        0.137           0.000
7015    NUDT14        0.871          0.216        0.557           0.098
11302    UBE2O        0.871          0.871        0.001           0.000
5420   L3MBTL3        0.870          0.843        0.000           0.027
1945     CERS5        0.868          0.000        0.868           0.000
8596      REST        0.868          0.868        0.000           0.000
5632      LRBA        0.861          0.000        0.839           0.022
1626     CCDC9        0.858          0.667        0.191           0.000
2958    DNASE1        0.858          0.551        0.007           0.300
1547   CCDC125        0.855          0.034        0.821           0.000
11782    ZBED3        0.855          0.855        0.000           0.000
114       ACHE        0.851          0.846        0.005           0.000
8234     PTK2B        0.849          0.739        0.053           0.057
8566     RCSD1        0.846          0.833        0.008           0.005
8145    PRUNE2        0.843          0.799        0.006           0.038
6906      NPR3        0.842          0.842        0.000           0.000
759      ARRB2        0.836          0.281        0.554           0.000
5094     JMJD6        0.836          0.831        0.005           0.000
8300    PXYLP1        0.836          0.828        0.007           0.000
3263     ELMO1        0.835          0.702        0.046           0.086
624     APOLD1        0.833          0.029        0.000           0.804
5301      KLF5        0.824          0.824        0.000           0.000
5712      LSM4        0.818          0.011        0.001           0.806
1502  CATSPER2        0.815          0.792        0.000           0.023
3251     ELANE        0.813          0.813        0.000           0.000
8935      RSU1        0.812          0.037        0.270           0.505
4716      HSF2        0.811          0.811        0.000           0.000
11876  ZFP36L1        0.811          0.811        0.000           0.000
674   ARHGAP26        0.810          0.000        0.022           0.788
694   ARHGEF12        0.809          0.762        0.046           0.000
182     ADAM10        0.807          0.798        0.009           0.000
5893     MARK3        0.807          0.696        0.109           0.002
12115   ZNF516        0.807          0.792        0.004           0.011
8541      RBP4        0.804          0.804        0.000           0.000
      region_tag
11761      17_34
5450        1_20
665         2_85
6495        7_33
9593        8_92
2770       4_109
10814       5_72
4508        22_1
6779        12_1
5772       12_42
9946       14_36
11126       11_2
8908       20_13
9412         5_2
921         6_13
98          17_6
5067        2_14
452          7_4
9375        20_2
4984        5_44
228          4_4
7999       19_32
11848       1_18
6808       16_31
3336        3_20
3258       12_57
927         3_43
3663       12_82
10828       12_7
8263       11_29
10315        4_8
1699        1_72
2203       1_114
5984        3_93
384        12_67
3755       15_43
5296       13_36
8267        7_98
3398         8_1
11531        9_3
2424        7_24
8363       17_18
10273      6_103
1010        2_96
2206        19_2
2377       5_104
6491        17_2
11741      21_24
639         4_30
9455        5_79
9476        1_67
3829        13_7
1445       5_108
5437       13_62
7197        9_35
5567       10_57
8810        1_74
1732       19_35
11173      18_12
5253       17_26
7704       15_14
175        12_33
10605      1_104
10956      1_106
11888      16_54
11295       16_2
6709        9_64
7054        17_5
3055        2_15
4139       16_40
9609       16_21
11326       20_5
10429       4_69
11413       3_34
4698        2_75
9172        1_83
9046        19_2
2078        1_25
6162       17_25
6611        1_91
11789       6_98
4375        7_49
1730        2_96
1750       11_34
1771        1_61
867        19_15
1299        20_1
11614      13_22
46         3_112
6504       19_14
5036       16_24
562         19_9
5219        1_86
8422        5_23
1684        3_28
6077       10_65
6401        5_22
8152        2_67
186         5_93
7296        3_87
9005       19_33
2396        7_61
5841       15_31
9639       17_42
1733        7_51
5089        7_23
5661       19_15
7015       14_55
11302      17_43
5420        6_86
1945       12_33
8596        4_41
5632        4_98
1626       19_33
2958        16_3
1547        5_42
11782       5_45
114         7_62
8234        8_27
8566        1_82
8145        9_36
6906        5_22
759         17_4
5094       17_43
8300        3_86
3263        7_27
624        12_12
5301       13_35
5712       19_15
1502       15_16
3251        19_2
8935       10_14
4716        6_82
11876      14_33
674         5_84
694        11_72
182        15_27
5893       14_54
12115      18_45
8541       10_59

GO enrichment analysis for genes with PIP>0.5

#number of genes for gene set enrichment
length(genes)
[1] 140
Uploading data to Enrichr... Done.
  Querying GO_Biological_Process_2021... Done.
  Querying GO_Cellular_Component_2021... Done.
  Querying GO_Molecular_Function_2021... Done.
Parsing results... Done.
[1] "GO_Biological_Process_2021"

Version Author Date
1b50100 sq-96 2023-02-07
                                                            Term Overlap
1 neutrophil activation involved in immune response (GO:0002283)  15/485
2       amyloid precursor protein metabolic process (GO:0042982)    4/18
3                          neutrophil degranulation (GO:0043312)  14/481
4                      neutrophil mediated immunity (GO:0002446)  14/488
5                        adipose tissue development (GO:0060612)    3/12
  Adjusted.P.value
1         0.002091
2         0.002795
3         0.002795
4         0.002795
5         0.018207
                                                                                     Genes
1 PTPRN2;ADAM10;PTPRJ;IQGAP2;LYZ;ITGAL;SIRPB1;CNN2;LAMP1;SELL;OSTF1;CD36;DNASE1;ELANE;CD33
2                                                                 ADAM19;ACHE;ADAM10;TMCC2
3        PTPRN2;ADAM10;PTPRJ;IQGAP2;LYZ;ITGAL;SIRPB1;CNN2;LAMP1;SELL;OSTF1;CD36;ELANE;CD33
4        PTPRN2;ADAM10;PTPRJ;IQGAP2;LYZ;ITGAL;SIRPB1;CNN2;LAMP1;SELL;OSTF1;CD36;ELANE;CD33
5                                                                       SPTLC2;ZNF516;RORC
[1] "GO_Cellular_Component_2021"

Version Author Date
1b50100 sq-96 2023-02-07
                                      Term Overlap Adjusted.P.value
1            specific granule (GO:0042581)   8/160         0.001436
2  secretory granule membrane (GO:0030667)  10/274         0.001436
3 actin-based cell projection (GO:0098858)    5/83         0.011822
4   specific granule membrane (GO:0035579)    5/91         0.013581
5            tertiary granule (GO:0070820)   6/164         0.025494
                                                         Genes
1                  CNN2;ADAM10;PTPRJ;CD36;LYZ;ITGAL;ELANE;CD33
2 PTPRN2;LAMP1;SELL;ADAM10;PTPRJ;CD36;IQGAP2;ITGAL;SIRPB1;CD33
3                            SLC9A3R1;MYO1C;CD302;IQGAP2;MYO1G
4                                 ADAM10;PTPRJ;CD36;ITGAL;CD33
5                            CNN2;PTPRN2;LAMP1;ADAM10;LYZ;CD33
[1] "GO_Molecular_Function_2021"

Version Author Date
1b50100 sq-96 2023-02-07
[1] Term             Overlap          Adjusted.P.value Genes           
<0 rows> (or 0-length row.names)

DisGeNET enrichment analysis for genes with PIP>0.5

                              Description     FDR Ratio  BgRatio
14  Refractory anaemia with excess blasts 0.09276  1/83   1/9703
45      Cholesterol Ester Storage Disease 0.09276  1/83   1/9703
71                              Epistaxis 0.09276  1/83   1/9703
77                               Freckles 0.09276  1/83   1/9703
108          Acute Promyelocytic Leukemia 0.09276  3/83  46/9703
111         Liver Cirrhosis, Experimental 0.09276 15/83 774/9703
121                             Melanosis 0.09276  1/83   1/9703
122                              Chloasma 0.09276  1/83   1/9703
175                        Telangiectasis 0.09276  1/83   1/9703
186                        Wolman Disease 0.09276  1/83   1/9703

WebGestalt enrichment analysis for genes with PIP>0.5

Loading the functional categories...
Loading the ID list...
Loading the reference list...
Performing the enrichment analysis...
Warning in oraEnrichment(interestGeneList, referenceGeneList, geneSet, minNum =
minNum, : No significant gene set is identified based on FDR 0.05!
NULL
Loading required package: S4Vectors
Loading required package: stats4
Loading required package: BiocGenerics

Attaching package: 'BiocGenerics'
The following objects are masked from 'package:stats':

    IQR, mad, sd, var, xtabs
The following objects are masked from 'package:base':

    anyDuplicated, append, as.data.frame, basename, cbind, colnames,
    dirname, do.call, duplicated, eval, evalq, Filter, Find, get, grep,
    grepl, intersect, is.unsorted, lapply, Map, mapply, match, mget,
    order, paste, pmax, pmax.int, pmin, pmin.int, Position, rank,
    rbind, Reduce, rownames, sapply, setdiff, sort, table, tapply,
    union, unique, unsplit, which.max, which.min

Attaching package: 'S4Vectors'
The following objects are masked from 'package:base':

    expand.grid, I, unname
Loading required package: IRanges
Loading required package: GenomicRanges
Loading required package: GenomeInfoDb
Loading required package: grid
a <- locus_plot(region_tag="17_34", return_table=T,
                      focus=NULL,
                      label_genes=NULL,
                      rerun_ctwas=F,
                      rerun_load_only=F,
                      label_panel="both",
                      legend_side="left",
                      legend_panel="")

Version Author Date
0e327ac sq-96 2023-02-07
1b50100 sq-96 2023-02-07
a <- locus_plot(region_tag="19_32", return_table=T,
                      focus=NULL,
                      label_genes=NULL,
                      rerun_ctwas=F,
                      rerun_load_only=F,
                      label_panel="both",
                      legend_side="left",
                      legend_panel="")

Version Author Date
213f0e4 sq-96 2023-02-15
0e327ac sq-96 2023-02-07
a <- locus_plot(region_tag="12_1", return_table=T,
                      focus=NULL,
                      label_genes=NULL,
                      rerun_ctwas=F,
                      rerun_load_only=F,
                      label_panel="both",
                      legend_side="left",
                      legend_panel="")

Version Author Date
213f0e4 sq-96 2023-02-15
0e327ac sq-96 2023-02-07
a <- locus_plot(region_tag="1_20", return_table=T,
                      focus=NULL,
                      label_genes=NULL,
                      rerun_ctwas=F,
                      rerun_load_only=F,
                      label_panel="both",
                      legend_side="left",
                      legend_panel="")

Version Author Date
213f0e4 sq-96 2023-02-15

sessionInfo()
R version 4.1.0 (2021-05-18)
Platform: x86_64-pc-linux-gnu (64-bit)
Running under: CentOS Linux 7 (Core)

Matrix products: default
BLAS/LAPACK: /software/openblas-0.3.13-el7-x86_64/lib/libopenblas_haswellp-r0.3.13.so

locale:
 [1] LC_CTYPE=en_US.UTF-8       LC_NUMERIC=C              
 [3] LC_TIME=en_US.UTF-8        LC_COLLATE=en_US.UTF-8    
 [5] LC_MONETARY=en_US.UTF-8    LC_MESSAGES=en_US.UTF-8   
 [7] LC_PAPER=en_US.UTF-8       LC_NAME=C                 
 [9] LC_ADDRESS=C               LC_TELEPHONE=C            
[11] LC_MEASUREMENT=en_US.UTF-8 LC_IDENTIFICATION=C       

attached base packages:
[1] grid      stats4    stats     graphics  grDevices utils     datasets 
[8] methods   base     

other attached packages:
 [1] Gviz_1.38.4          GenomicRanges_1.46.1 GenomeInfoDb_1.30.1 
 [4] IRanges_2.28.0       S4Vectors_0.32.4     BiocGenerics_0.40.0 
 [7] WebGestaltR_0.4.4    disgenet2r_0.99.2    enrichR_3.1         
[10] cowplot_1.1.1        ggplot2_3.4.0        workflowr_1.7.0     

loaded via a namespace (and not attached):
  [1] backports_1.2.1             Hmisc_4.7-2                
  [3] BiocFileCache_2.2.1         systemfonts_1.0.4          
  [5] plyr_1.8.8                  igraph_1.3.5               
  [7] lazyeval_0.2.2              splines_4.1.0              
  [9] BiocParallel_1.28.3         digest_0.6.31              
 [11] ensembldb_2.18.4            foreach_1.5.2              
 [13] htmltools_0.5.4             fansi_1.0.3                
 [15] checkmate_2.1.0             magrittr_2.0.3             
 [17] memoise_2.0.1               BSgenome_1.62.0            
 [19] cluster_2.1.2               doParallel_1.0.17          
 [21] tzdb_0.3.0                  Biostrings_2.62.0          
 [23] readr_2.1.3                 matrixStats_0.63.0         
 [25] vroom_1.6.0                 svglite_2.1.0              
 [27] prettyunits_1.1.1           jpeg_0.1-10                
 [29] colorspace_2.0-3            blob_1.2.3                 
 [31] rappdirs_0.3.3              xfun_0.35                  
 [33] dplyr_1.0.10                callr_3.7.3                
 [35] crayon_1.5.2                RCurl_1.98-1.9             
 [37] jsonlite_1.8.4              VariantAnnotation_1.40.0   
 [39] survival_3.2-11             iterators_1.0.14           
 [41] glue_1.6.2                  gtable_0.3.1               
 [43] zlibbioc_1.40.0             XVector_0.34.0             
 [45] DelayedArray_0.20.0         apcluster_1.4.10           
 [47] scales_1.2.1                DBI_1.1.3                  
 [49] rngtools_1.5.2              Rcpp_1.0.9                 
 [51] htmlTable_2.4.1             progress_1.2.2             
 [53] foreign_0.8-81              bit_4.0.5                  
 [55] Formula_1.2-4               htmlwidgets_1.6.0          
 [57] httr_1.4.4                  RColorBrewer_1.1-3         
 [59] ellipsis_0.3.2              pkgconfig_2.0.3            
 [61] XML_3.99-0.13               farver_2.1.0               
 [63] nnet_7.3-16                 sass_0.4.4                 
 [65] dbplyr_2.2.1                deldir_1.0-6               
 [67] utf8_1.2.2                  tidyselect_1.2.0           
 [69] labeling_0.4.2              rlang_1.0.6                
 [71] reshape2_1.4.4              later_1.3.0                
 [73] AnnotationDbi_1.56.2        munsell_0.5.0              
 [75] tools_4.1.0                 cachem_1.0.6               
 [77] cli_3.4.1                   generics_0.1.3             
 [79] RSQLite_2.2.19              evaluate_0.19              
 [81] stringr_1.5.0               fastmap_1.1.0              
 [83] yaml_2.3.6                  processx_3.8.0             
 [85] knitr_1.41                  bit64_4.0.5                
 [87] fs_1.5.2                    AnnotationFilter_1.18.0    
 [89] KEGGREST_1.34.0             doRNG_1.8.2                
 [91] whisker_0.4.1               xml2_1.3.3                 
 [93] biomaRt_2.50.3              compiler_4.1.0             
 [95] rstudioapi_0.14             filelock_1.0.2             
 [97] curl_4.3.2                  png_0.1-8                  
 [99] tibble_3.1.8                bslib_0.4.1                
[101] stringi_1.7.8               highr_0.9                  
[103] ps_1.7.2                    GenomicFeatures_1.46.5     
[105] lattice_0.20-44             ProtGenerics_1.26.0        
[107] Matrix_1.3-3                vctrs_0.5.1                
[109] pillar_1.8.1                lifecycle_1.0.3            
[111] jquerylib_0.1.4             data.table_1.14.6          
[113] bitops_1.0-7                httpuv_1.6.7               
[115] rtracklayer_1.54.0          R6_2.5.1                   
[117] BiocIO_1.4.0                latticeExtra_0.6-30        
[119] promises_1.2.0.1            gridExtra_2.3              
[121] codetools_0.2-18            dichromat_2.0-0.1          
[123] assertthat_0.2.1            SummarizedExperiment_1.24.0
[125] rprojroot_2.0.3             rjson_0.2.21               
[127] withr_2.5.0                 GenomicAlignments_1.30.0   
[129] Rsamtools_2.10.0            GenomeInfoDbData_1.2.7     
[131] parallel_4.1.0              hms_1.1.2                  
[133] rpart_4.1-15                rmarkdown_2.19             
[135] MatrixGenerics_1.6.0        git2r_0.30.1               
[137] biovizBase_1.42.0           getPass_0.2-2              
[139] Biobase_2.54.0              base64enc_0.1-3            
[141] interp_1.1-3                restfulr_0.0.15