1 AME results

AME (Analysis of Motif Enrichment; tool in MEME Suite) is used to do motif enrichment analysis. For a given motif set and a set of sequences, test whether a motif occurs significantly in the sequences.

Results of top 1% windowns (window size is 50, mask size is 8) can be found: E081, Noonan.

Results of randomly selected windows can be found: E081 random, Noonan random.

2 TFs are involved in brain function

2.1 Top 1%

2.2 Random windows

3 GO term analysis of hitted TF

Here JASPAR TFs is selected as the background protein list.

3.1 Overview

library(pander)
pandoc.table(tf.count)
  Positive Random
E081 81 24
Noonan 34 21

3.2 Top 1%

3.2.1 E081

e081.allRes
##         GO.ID                                        Term Annotated Significant Expected classicFisher
## 1  GO:0019722                  calcium-mediated signaling         5           4     0.81        0.0028
## 2  GO:0014904                    myotube cell development         3           3     0.49        0.0041
## 3  GO:0048708                   astrocyte differentiation         9           5     1.46        0.0072
## 4  GO:0006357 regulation of transcription from RNA pol...       303          56    49.20        0.0141
## 5  GO:0033173          calcineurin-NFAT signaling cascade         4           3     0.65        0.0145
## 6  GO:0048016       inositol phosphate-mediated signaling         4           3     0.65        0.0145
## 7  GO:0097720              calcineurin-mediated signaling         4           3     0.65        0.0145
## 8  GO:0019932         second-messenger-mediated signaling         7           4     1.14        0.0152
## 9  GO:0009890 negative regulation of biosynthetic proc...       171          36    27.77        0.0162
## 10 GO:0010558 negative regulation of macromolecule bio...       171          36    27.77        0.0162
## 11 GO:0031327 negative regulation of cellular biosynth...       171          36    27.77        0.0162
## 12 GO:0045934 negative regulation of nucleobase-contai...       171          36    27.77        0.0162
## 13 GO:0051172 negative regulation of nitrogen compound...       171          36    27.77        0.0162
## 14 GO:0051253 negative regulation of RNA metabolic pro...       171          36    27.77        0.0162
## 15 GO:1902679 negative regulation of RNA biosynthetic ...       171          36    27.77        0.0162
## 16 GO:1903507 negative regulation of nucleic acid-temp...       171          36    27.77        0.0162
## 17 GO:0031324 negative regulation of cellular metaboli...       172          36    27.93        0.0182
## 18 GO:0000082       G1/S transition of mitotic cell cycle        11           5     1.79        0.0203
## 19 GO:0044843            cell cycle G1/S phase transition        11           5     1.79        0.0203
## 20 GO:0009892    negative regulation of metabolic process       175          36    28.41        0.0252
## 21 GO:0010605 negative regulation of macromolecule met...       175          36    28.41        0.0252
## 22 GO:0048519 negative regulation of biological proces...       219          43    35.56        0.0260
## 23 GO:0000429 carbon catabolite regulation of transcri...         2           2     0.32        0.0260
## 24 GO:0000430 regulation of transcription from RNA pol...         2           2     0.32        0.0260
## 25 GO:0000432 positive regulation of transcription fro...         2           2     0.32        0.0260
## 26 GO:0000436 carbon catabolite activation of transcri...         2           2     0.32        0.0260
## 27 GO:0006816                       calcium ion transport         2           2     0.32        0.0260
## 28 GO:0007520                             myoblast fusion         2           2     0.32        0.0260
## 29 GO:0019086                    late viral transcription         2           2     0.32        0.0260
## 30 GO:0048710     regulation of astrocyte differentiation         2           2     0.32        0.0260
## 31 GO:0048712 negative regulation of astrocyte differe...         2           2     0.32        0.0260
## 32 GO:0048715 negative regulation of oligodendrocyte d...         2           2     0.32        0.0260
## 33 GO:0048741           skeletal muscle fiber development         2           2     0.32        0.0260
## 34 GO:0051924         regulation of calcium ion transport         2           2     0.32        0.0260
## 35 GO:0060074                          synapse maturation         2           2     0.32        0.0260
## 36 GO:0070838                divalent metal ion transport         2           2     0.32        0.0260
## 37 GO:0071157    negative regulation of cell cycle arrest         2           2     0.32        0.0260
## 38 GO:0072511         divalent inorganic cation transport         2           2     0.32        0.0260
## 39 GO:1901739               regulation of myoblast fusion         2           2     0.32        0.0260
## 40 GO:1901741      positive regulation of myoblast fusion         2           2     0.32        0.0260
## 41 GO:0006260                             DNA replication         8           4     1.30        0.0266
## 42 GO:0000083 regulation of transcription involved in ...         5           3     0.81        0.0321
## 43 GO:0032924          activin receptor signaling pathway         5           3     0.81        0.0321
## 44 GO:0038092                     nodal signaling pathway         5           3     0.81        0.0321
## 45 GO:0051302                 regulation of cell division         5           3     0.81        0.0321
## 46 GO:0048523     negative regulation of cellular process       215          42    34.91        0.0331
## 47 GO:0045666 positive regulation of neuron differenti...        17           6     2.76        0.0413
## 48 GO:0019058                            viral life cycle         9           4     1.46        0.0421
## 49 GO:0055088                           lipid homeostasis         9           4     1.46        0.0421
## 50 GO:0006366 transcription from RNA polymerase II pro...       313          56    50.82        0.0463

3.2.2 Noonan

noonan.allRes
##         GO.ID                                        Term Annotated Significant Expected classicFisher
## 1  GO:0033173          calcineurin-NFAT signaling cascade         4           3     0.34        0.0021
## 2  GO:0034698                    response to gonadotropin         4           3     0.34        0.0021
## 3  GO:0048016       inositol phosphate-mediated signaling         4           3     0.34        0.0021
## 4  GO:0071320                   cellular response to cAMP         4           3     0.34        0.0021
## 5  GO:0071371 cellular response to gonadotropin stimul...         4           3     0.34        0.0021
## 6  GO:0097720              calcineurin-mediated signaling         4           3     0.34        0.0021
## 7  GO:0030154                        cell differentiation       243          28    20.67        0.0035
## 8  GO:0048869              cellular developmental process       246          28    20.92        0.0046
## 9  GO:0000083 regulation of transcription involved in ...         5           3     0.43        0.0050
## 10 GO:0019722                  calcium-mediated signaling         5           3     0.43        0.0050
## 11 GO:0002429 immune response-activating cell surface ...        10           4     0.85        0.0064
## 12 GO:0007268              chemical synaptic transmission        10           4     0.85        0.0064
## 13 GO:0098916        anterograde trans-synaptic signaling        10           4     0.85        0.0064
## 14 GO:0099536                          synaptic signaling        10           4     0.85        0.0064
## 15 GO:0099537                    trans-synaptic signaling        10           4     0.85        0.0064
## 16 GO:0007274         neuromuscular synaptic transmission         2           2     0.17        0.0070
## 17 GO:0048168 regulation of neuronal synaptic plastici...         2           2     0.17        0.0070
## 18 GO:0060396 growth hormone receptor signaling pathwa...         2           2     0.17        0.0070
## 19 GO:0060397 JAK-STAT cascade involved in growth horm...         2           2     0.17        0.0070
## 20 GO:0060416                  response to growth hormone         2           2     0.17        0.0070
## 21 GO:0060762 regulation of branching involved in mamm...         2           2     0.17        0.0070
## 22 GO:0071378 cellular response to growth hormone stim...         2           2     0.17        0.0070
## 23 GO:0071480        cellular response to gamma radiation         2           2     0.17        0.0070
## 24 GO:0072203 cell proliferation involved in metanephr...         2           2     0.17        0.0070
## 25 GO:0002220 innate immune response activating cell s...         6           3     0.51        0.0094
## 26 GO:0002223 stimulatory C-type lectin receptor signa...         6           3     0.51        0.0094
## 27 GO:0002253               activation of immune response        17           5     1.45        0.0097
## 28 GO:0002757 immune response-activating signal transd...        17           5     1.45        0.0097
## 29 GO:0045088        regulation of innate immune response        17           5     1.45        0.0097
## 30 GO:0006357 regulation of transcription from RNA pol...       303          31    25.77        0.0119
## 31 GO:0019932         second-messenger-mediated signaling         7           3     0.60        0.0155
## 32 GO:0045087                      innate immune response        26           6     2.21        0.0159
## 33 GO:0050776               regulation of immune response        26           6     2.21        0.0159
## 34 GO:0002764 immune response-regulating signaling pat...        19           5     1.62        0.0160
## 35 GO:0046683                response to organophosphorus        13           4     1.11        0.0180
## 36 GO:0051591                            response to cAMP        13           4     1.11        0.0180
## 37 GO:0007259                            JAK-STAT cascade         3           2     0.26        0.0200
## 38 GO:0014904                    myotube cell development         3           2     0.26        0.0200
## 39 GO:0016925                         protein sumoylation         3           2     0.26        0.0200
## 40 GO:0072111 cell proliferation involved in kidney de...         3           2     0.26        0.0200
## 41 GO:0072215       regulation of metanephros development         3           2     0.26        0.0200
## 42 GO:0097696                                STAT cascade         3           2     0.26        0.0200
## 43 GO:0050778      positive regulation of immune response        20           5     1.70        0.0200
## 44 GO:0071417 cellular response to organonitrogen comp...        20           5     1.70        0.0200
## 45 GO:0006952                            defense response        44           8     3.74        0.0224
## 46 GO:0044763            single-organism cellular process       295          30    25.09        0.0231
## 47 GO:0002218        activation of innate immune response        14           4     1.19        0.0237
## 48 GO:0002758 innate immune response-activating signal...        14           4     1.19        0.0237
## 49 GO:0003013                  circulatory system process        14           4     1.19        0.0237
## 50 GO:0008015                           blood circulation        14           4     1.19        0.0237

3.3 Randomly selected windows

3.3.1 E081

e081.random.allRes
##         GO.ID                                        Term Annotated Significant Expected classicFisher
## 1  GO:0006357 regulation of transcription from RNA pol...       303          22    17.18        0.0036
## 2  GO:0006366 transcription from RNA polymerase II pro...       313          22    17.75        0.0076
## 3  GO:0030154                        cell differentiation       243          19    13.78        0.0123
## 4  GO:0048869              cellular developmental process       246          19    13.95        0.0148
## 5  GO:0044763            single-organism cellular process       295          21    16.73        0.0168
## 6  GO:0033173          calcineurin-NFAT signaling cascade         4           2     0.23        0.0172
## 7  GO:0048016       inositol phosphate-mediated signaling         4           2     0.23        0.0172
## 8  GO:0097720              calcineurin-mediated signaling         4           2     0.23        0.0172
## 9  GO:0019722                  calcium-mediated signaling         5           2     0.28        0.0277
## 10 GO:0046677                      response to antibiotic         5           2     0.28        0.0277
## 11 GO:0060795 cell fate commitment involved in formati...         5           2     0.28        0.0277
## 12 GO:1904018 positive regulation of vasculature devel...         5           2     0.28        0.0277
## 13 GO:0044699                     single-organism process       334          22    18.94        0.0335
## 14 GO:0021761                   limbic system development        15           3     0.85        0.0462
## 15 GO:0019932         second-messenger-mediated signaling         7           2     0.40        0.0542
## 16 GO:0050851 antigen receptor-mediated signaling path...         7           2     0.40        0.0542
## 17 GO:0060428                 lung epithelium development         7           2     0.40        0.0542
## 18 GO:0070555                   response to interleukin-1         7           2     0.40        0.0542
## 19 GO:0009612             response to mechanical stimulus        16           3     0.91        0.0548
## 20 GO:0001705                          ectoderm formation         1           1     0.06        0.0567
## 21 GO:0001712             ectodermal cell fate commitment         1           1     0.06        0.0567
## 22 GO:0001787           natural killer cell proliferation         1           1     0.06        0.0567
## 23 GO:0001866                     NK T cell proliferation         1           1     0.06        0.0567
## 24 GO:0001941          postsynaptic membrane organization         1           1     0.06        0.0567
## 25 GO:0006997                        nucleus organization         1           1     0.06        0.0567
## 26 GO:0007501          mesodermal cell fate specification         1           1     0.06        0.0567
## 27 GO:0007528          neuromuscular junction development         1           1     0.06        0.0567
## 28 GO:0008356                    asymmetric cell division         1           1     0.06        0.0567
## 29 GO:0010668             ectodermal cell differentiation         1           1     0.06        0.0567
## 30 GO:0010715 regulation of extracellular matrix disas...         1           1     0.06        0.0567
## 31 GO:0010996               response to auditory stimulus         1           1     0.06        0.0567
## 32 GO:0021756                        striatum development         1           1     0.06        0.0567
## 33 GO:0021757                 caudate nucleus development         1           1     0.06        0.0567
## 34 GO:0021758                         putamen development         1           1     0.06        0.0567
## 35 GO:0022617            extracellular matrix disassembly         1           1     0.06        0.0567
## 36 GO:0030575                   nuclear body organization         1           1     0.06        0.0567
## 37 GO:0030578                       PML body organization         1           1     0.06        0.0567
## 38 GO:0031223                           auditory behavior         1           1     0.06        0.0567
## 39 GO:0032354    response to follicle-stimulating hormone         1           1     0.06        0.0567
## 40 GO:0034465                 response to carbon monoxide         1           1     0.06        0.0567
## 41 GO:0042078                germ-line stem cell division         1           1     0.06        0.0567
## 42 GO:0042220                         response to cocaine         1           1     0.06        0.0567
## 43 GO:0042297                              vocal learning         1           1     0.06        0.0567
## 44 GO:0043113                         receptor clustering         1           1     0.06        0.0567
## 45 GO:0044849                               estrous cycle         1           1     0.06        0.0567
## 46 GO:0045601 regulation of endothelial cell different...         1           1     0.06        0.0567
## 47 GO:0045603 positive regulation of endothelial cell ...         1           1     0.06        0.0567
## 48 GO:0048133 male germ-line stem cell asymmetric divi...         1           1     0.06        0.0567
## 49 GO:0048169 regulation of long-term neuronal synapti...         1           1     0.06        0.0567
## 50 GO:0050854 regulation of antigen receptor-mediated ...         1           1     0.06        0.0567

3.3.2 Noonan

noonan.random.allRes
##         GO.ID                                        Term Annotated Significant Expected classicFisher
## 1  GO:0060396 growth hormone receptor signaling pathwa...         2           2     0.10        0.0025
## 2  GO:0060397 JAK-STAT cascade involved in growth horm...         2           2     0.10        0.0025
## 3  GO:0060416                  response to growth hormone         2           2     0.10        0.0025
## 4  GO:0071378 cellular response to growth hormone stim...         2           2     0.10        0.0025
## 5  GO:0031328 positive regulation of cellular biosynth...       244          18    12.58        0.0063
## 6  GO:0045893 positive regulation of transcription, DN...       244          18    12.58        0.0063
## 7  GO:0045935 positive regulation of nucleobase-contai...       244          18    12.58        0.0063
## 8  GO:0051173 positive regulation of nitrogen compound...       244          18    12.58        0.0063
## 9  GO:0051254 positive regulation of RNA metabolic pro...       244          18    12.58        0.0063
## 10 GO:1902680 positive regulation of RNA biosynthetic ...       244          18    12.58        0.0063
## 11 GO:1903508 positive regulation of nucleic acid-temp...       244          18    12.58        0.0063
## 12 GO:0009891 positive regulation of biosynthetic proc...       245          18    12.63        0.0067
## 13 GO:0010557 positive regulation of macromolecule bio...       245          18    12.63        0.0067
## 14 GO:0007259                            JAK-STAT cascade         3           2     0.15        0.0074
## 15 GO:0097696                                STAT cascade         3           2     0.15        0.0074
## 16 GO:0031325 positive regulation of cellular metaboli...       248          18    12.78        0.0081
## 17 GO:0010628      positive regulation of gene expression       249          18    12.84        0.0086
## 18 GO:0010604 positive regulation of macromolecule met...       252          18    12.99        0.0104
## 19 GO:0045944 positive regulation of transcription fro...       228          17    11.75        0.0104
## 20 GO:0009893    positive regulation of metabolic process       253          18    13.04        0.0110
## 21 GO:0000768 syncytium formation by plasma membrane f...         4           2     0.21        0.0143
## 22 GO:0006949                         syncytium formation         4           2     0.21        0.0143
## 23 GO:0033173          calcineurin-NFAT signaling cascade         4           2     0.21        0.0143
## 24 GO:0048016       inositol phosphate-mediated signaling         4           2     0.21        0.0143
## 25 GO:0060142 regulation of syncytium formation by pla...         4           2     0.21        0.0143
## 26 GO:0097720              calcineurin-mediated signaling         4           2     0.21        0.0143
## 27 GO:0019722                  calcium-mediated signaling         5           2     0.26        0.0230
## 28 GO:0032355                       response to estradiol         5           2     0.26        0.0230
## 29 GO:0060795 cell fate commitment involved in formati...         5           2     0.26        0.0230
## 30 GO:0048522     positive regulation of cellular process       266          18    13.71        0.0236
## 31 GO:0030154                        cell differentiation       243          17    12.53        0.0249
## 32 GO:0044763            single-organism cellular process       295          19    15.21        0.0275
## 33 GO:0048518 positive regulation of biological proces...       269          18    13.87        0.0279
## 34 GO:0048869              cellular developmental process       246          17    12.68        0.0292
## 35 GO:0006357 regulation of transcription from RNA pol...       303          19    15.62        0.0431
## 36 GO:0019932         second-messenger-mediated signaling         7           2     0.36        0.0454
## 37 GO:0050851 antigen receptor-mediated signaling path...         7           2     0.36        0.0454
## 38 GO:0001659                     temperature homeostasis         1           1     0.05        0.0515
## 39 GO:0001705                          ectoderm formation         1           1     0.05        0.0515
## 40 GO:0001712             ectodermal cell fate commitment         1           1     0.05        0.0515
## 41 GO:0001787           natural killer cell proliferation         1           1     0.05        0.0515
## 42 GO:0001866                     NK T cell proliferation         1           1     0.05        0.0515
## 43 GO:0001937 negative regulation of endothelial cell ...         1           1     0.05        0.0515
## 44 GO:0003337 mesenchymal to epithelial transition inv...         1           1     0.05        0.0515
## 45 GO:0003339 regulation of mesenchymal to epithelial ...         1           1     0.05        0.0515
## 46 GO:0003340 negative regulation of mesenchymal to ep...         1           1     0.05        0.0515
## 47 GO:0006164      purine nucleotide biosynthetic process         1           1     0.05        0.0515
## 48 GO:0006754                    ATP biosynthetic process         1           1     0.05        0.0515
## 49 GO:0006997                        nucleus organization         1           1     0.05        0.0515
## 50 GO:0007501          mesodermal cell fate specification         1           1     0.05        0.0515

3.4 Summary

E081 hits in enriched in neuron development process but there is no brain related function enriched in Noonan hits.