MBNL1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of gamma-delta T cell activation (GO:0046645)5.64613067
2negative regulation of cell killing (GO:0031342)5.14568120
3negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.14568120
4definitive hemopoiesis (GO:0060216)4.92048729
5regulation of B cell receptor signaling pathway (GO:0050855)4.80658004
6antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.71316741
7antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.64114316
8antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.64114316
9megakaryocyte development (GO:0035855)4.57498634
10negative regulation of phagocytosis (GO:0050765)4.51456655
11interferon-gamma production (GO:0032609)4.49577616
12antigen processing and presentation of endogenous antigen (GO:0019883)4.33496092
13positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.27967205
14mast cell activation (GO:0045576)4.20149522
15positive regulation of B cell differentiation (GO:0045579)4.09147542
16negative T cell selection (GO:0043383)3.97755844
17regulation of gamma-delta T cell differentiation (GO:0045586)3.96414032
18regulation of B cell differentiation (GO:0045577)3.95263986
19negative thymic T cell selection (GO:0045060)3.85379518
20regulation of gamma-delta T cell activation (GO:0046643)3.75434687
21B cell receptor signaling pathway (GO:0050853)3.74305028
22response to interleukin-15 (GO:0070672)3.64084459
23hepatocyte apoptotic process (GO:0097284)3.59149067
24cellular response to interleukin-15 (GO:0071350)3.57111225
25neutrophil activation involved in immune response (GO:0002283)3.50231489
26positive thymic T cell selection (GO:0045059)3.48495643
27T cell migration (GO:0072678)3.48457923
28negative regulation of erythrocyte differentiation (GO:0045647)3.45801035
29regulation of interferon-beta biosynthetic process (GO:0045357)3.42861153
30mast cell activation involved in immune response (GO:0002279)3.42072272
31mast cell degranulation (GO:0043303)3.42072272
32leukocyte aggregation (GO:0070486)3.40290267
33regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.37969044
34positive regulation of granulocyte differentiation (GO:0030854)3.33386708
35regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.30966586
36myeloid dendritic cell activation (GO:0001773)3.23483899
37negative regulation of lymphocyte mediated immunity (GO:0002707)3.22325809
38Arp2/3 complex-mediated actin nucleation (GO:0034314)3.17525132
39regulation of T cell receptor signaling pathway (GO:0050856)3.17297655
40pinocytosis (GO:0006907)3.15963654
41positive T cell selection (GO:0043368)3.15723500
42detection of other organism (GO:0098543)3.15501735
43macrophage activation involved in immune response (GO:0002281)3.14338989
44regulation of alpha-beta T cell proliferation (GO:0046640)3.12964813
45regulation of platelet aggregation (GO:0090330)3.12031307
46angiogenesis involved in wound healing (GO:0060055)3.11027974
47dendritic cell chemotaxis (GO:0002407)3.10557009
48modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.09097380
49positive regulation by organism of defense response of other organism involved in symbiotic interact3.09097380
50modulation by symbiont of host immune response (GO:0052553)3.09097380
51positive regulation by symbiont of host defense response (GO:0052509)3.09097380
52modulation by symbiont of host defense response (GO:0052031)3.09097380
53modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.09097380
54negative regulation of B cell proliferation (GO:0030889)3.09074149
55regulation of interleukin-12 biosynthetic process (GO:0045075)3.08470942
56negative regulation of T-helper cell differentiation (GO:0045623)3.08026580
57negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.08026580
58response to protozoan (GO:0001562)3.04390438
59defense response to protozoan (GO:0042832)3.03273576
60negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.02876890
61positive regulation of interferon-alpha production (GO:0032727)3.02844918
62myeloid cell activation involved in immune response (GO:0002275)3.02272300
63T cell homeostasis (GO:0043029)3.01862002
64neutrophil activation (GO:0042119)3.01131772
65antigen processing and presentation via MHC class Ib (GO:0002475)3.01018192
66response to peptidoglycan (GO:0032494)3.00444615
67dendritic cell migration (GO:0036336)2.98866562
68negative regulation of interleukin-12 production (GO:0032695)2.98842228
69positive regulation of isotype switching (GO:0045830)2.97885166
70negative regulation of T cell mediated immunity (GO:0002710)2.95882624
71B cell homeostasis (GO:0001782)2.94788947
72microglial cell activation (GO:0001774)2.94664095
73necroptotic process (GO:0070266)2.93806581
74embryonic hemopoiesis (GO:0035162)2.93336213
75interferon-gamma-mediated signaling pathway (GO:0060333)2.93240582
76regulation of response to interferon-gamma (GO:0060330)2.93095359
77regulation of interferon-alpha production (GO:0032647)2.93084568
78regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.92634164
79regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.92603659
80cellular extravasation (GO:0045123)2.91361816
81regulation of isotype switching to IgG isotypes (GO:0048302)2.91265703
82leukocyte degranulation (GO:0043299)2.90872872
83positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.90736278
84regulation of regulatory T cell differentiation (GO:0045589)2.90290528
85detection of bacterium (GO:0016045)2.89462561
86regulation of granulocyte differentiation (GO:0030852)2.88166421
87positive regulation of macrophage differentiation (GO:0045651)2.86494560
88T cell selection (GO:0045058)2.85712750
89phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.85624393
90thymic T cell selection (GO:0045061)2.85166615
91negative regulation of leukocyte mediated immunity (GO:0002704)2.84973171
92regulation of necroptotic process (GO:0060544)2.84616533
93detection of molecule of bacterial origin (GO:0032490)2.84473698
94response to type I interferon (GO:0034340)2.83779087
95G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.83289609
96activated T cell proliferation (GO:0050798)2.82044832
97negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.81151480
98lymphocyte homeostasis (GO:0002260)2.80011868
99germinal center formation (GO:0002467)2.79032067
100cellular response to type I interferon (GO:0071357)2.78477363
101type I interferon signaling pathway (GO:0060337)2.78477363
102regulation of T cell mediated cytotoxicity (GO:0001914)2.78363983
103lymph node development (GO:0048535)2.78340150
104CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.78123918
105positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.77868396
106detection of external biotic stimulus (GO:0098581)2.77792702
107antigen receptor-mediated signaling pathway (GO:0050851)2.77682835
108T cell proliferation (GO:0042098)2.76352669
109positive regulation of alpha-beta T cell proliferation (GO:0046641)2.76338387
110positive regulation of DNA recombination (GO:0045911)2.76017381
111myeloid leukocyte activation (GO:0002274)2.74209531
112positive regulation of mast cell activation (GO:0033005)2.73179170
113regulation of tolerance induction (GO:0002643)2.72773125
114immunoglobulin mediated immune response (GO:0016064)2.71743040
115positive regulation of natural killer cell differentiation (GO:0032825)2.69101635
116tolerance induction (GO:0002507)2.69027579
117response to muramyl dipeptide (GO:0032495)2.68979206
118T cell receptor signaling pathway (GO:0050852)2.68937598
119granulocyte activation (GO:0036230)2.67768913
120negative regulation of adaptive immune response based on somatic recombination of immune receptors b2.67600198
121response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.67243257
122response to host immune response (GO:0052572)2.67243257
123respiratory burst (GO:0045730)2.66089014
124cellular response to interferon-beta (GO:0035458)2.65255280
125regulation of natural killer cell mediated immunity (GO:0002715)2.64743732
126regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.64743732
127response to host (GO:0075136)2.64100439
128response to host defenses (GO:0052200)2.64100439
129response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.64100439
130regulation of T cell tolerance induction (GO:0002664)2.62145844
131positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.60740078
132positive regulation of tolerance induction (GO:0002645)2.59814679
133regulation of B cell mediated immunity (GO:0002712)2.59356652
134B cell proliferation (GO:0042100)2.59182825
135ribosomal small subunit assembly (GO:0000028)2.57699974
136negative regulation of T cell receptor signaling pathway (GO:0050860)2.57509658
137regulation of mast cell degranulation (GO:0043304)2.57399267
138cellular response to ethanol (GO:0071361)2.55770244

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.31331278
2FOXP3_17237761_ChIP-ChIP_TREG_Mouse5.68326365
3IRF8_22096565_ChIP-ChIP_GC-B_Human4.61127243
4STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.49557317
5IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.93898734
6BP1_19119308_ChIP-ChIP_Hs578T_Human3.85187962
7IRF8_21731497_ChIP-ChIP_J774_Mouse3.65540232
8* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.61179550
9* SCL_19346495_ChIP-Seq_HPC-7_Human3.09239148
10SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.05641827
11STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.97452162
12IRF8_27001747_Chip-Seq_BMDM_Mouse2.88736668
13MYB_21317192_ChIP-Seq_ERMYB_Mouse2.79873002
14SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.79568178
15IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.66998260
16* RUNX_20019798_ChIP-Seq_JUKART_Human2.57445902
17STAT4_19710469_ChIP-ChIP_TH1__Mouse2.57289040
18EGR1_19374776_ChIP-ChIP_THP-1_Human2.52708618
19NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.52233471
20SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.51926481
21* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.46899218
22* MYB_26560356_Chip-Seq_TH2_Human2.41260674
23SPI1_23547873_ChIP-Seq_NB4_Human2.31145180
24RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.29738703
25GATA1_22025678_ChIP-Seq_K562_Human2.24238330
26MYB_26560356_Chip-Seq_TH1_Human2.16447542
27ELF1_17652178_ChIP-ChIP_JURKAT_Human2.12058228
28ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.06090984
29MAF_26560356_Chip-Seq_TH1_Human1.91626254
30RUNX1_22412390_ChIP-Seq_EML_Mouse1.90823564
31FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.90797992
32BRD4_27068464_Chip-Seq_AML-cells_Mouse1.84725575
33MYC_22102868_ChIP-Seq_BL_Human1.81450139
34HOXB4_20404135_ChIP-ChIP_EML_Mouse1.78865063
35* E2F4_17652178_ChIP-ChIP_JURKAT_Human1.78860920
36MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.75634660
37VDR_21846776_ChIP-Seq_THP-1_Human1.72567473
38NOTCH1_21737748_ChIP-Seq_TLL_Human1.67703648
39LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.65734038
40* VDR_24763502_ChIP-Seq_THP-1_Human1.63338746
41FOXM1_23109430_ChIP-Seq_U2OS_Human1.60727886
42* PU_27001747_Chip-Seq_BMDM_Mouse1.59449009
43* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.58907910
44* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.56515674
45* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.56343672
46GATA2_22383799_ChIP-Seq_G1ME_Mouse1.50737004
47* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.48801323
48* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.47474896
49ERG_20887958_ChIP-Seq_HPC-7_Mouse1.47215346
50UTX_26944678_Chip-Seq_JUKART_Human1.46061251
51GATA3_27048872_Chip-Seq_THYMUS_Human1.45773675
52* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.44011891
53* SPI1_23127762_ChIP-Seq_K562_Human1.43430575
54ELK1_19687146_ChIP-ChIP_HELA_Human1.38401539
55NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.34416766
56NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.32120074
57GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.30369137
58TCF7_22412390_ChIP-Seq_EML_Mouse1.29902626
59GATA3_26560356_Chip-Seq_TH2_Human1.25909249
60HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.23313923
61FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.23239454
62KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.22838358
63RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.22538318
64STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.22056543
65FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.21539871
66GATA1_22383799_ChIP-Seq_G1ME_Mouse1.20863264
67SMAD_19615063_ChIP-ChIP_OVARY_Human1.17493469
68FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.16299028
69* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.14988899
70VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.14734001
71CIITA_25753668_ChIP-Seq_RAJI_Human1.13702694
72KDM2B_26808549_Chip-Seq_SUP-B15_Human1.12822819
73CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.11843498
74STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.11793289
75* GATA2_21666600_ChIP-Seq_HMVEC_Human1.11654723
76VDR_23849224_ChIP-Seq_CD4+_Human1.11338833
77E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.11312439
78* E2F1_21310950_ChIP-Seq_MCF-7_Human1.10752695
79RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.08411447
80* GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.04694321
81KDM2B_26808549_Chip-Seq_DND41_Human1.04228661
82CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.02899320
83MAF_26560356_Chip-Seq_TH2_Human1.01839876
84FOXP3_21729870_ChIP-Seq_TREG_Human1.00796721
85PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.99514360
86CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.99355299
87CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.97323950
88PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.96496059
89* GATA1_19941827_ChIP-Seq_MEL_Mouse0.95804072
90CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.95611431
91SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.93703353
92FOXO3_23340844_ChIP-Seq_DLD1_Human0.92784856
93GATA1_19941827_ChIP-Seq_MEL86_Mouse0.92690524
94KDM2B_26808549_Chip-Seq_JURKAT_Human0.90433304
95VDR_24787735_ChIP-Seq_THP-1_Human0.89159939
96NCOR1_26117541_ChIP-Seq_K562_Human0.88154808
97ETS1_22383799_ChIP-Seq_G1ME_Mouse0.87331153
98NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.86734776
99TFEB_21752829_ChIP-Seq_HELA_Human0.85531007
100FLI1_27457419_Chip-Seq_LIVER_Mouse0.85224279
101CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.82975939
102PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.81761466
103ELK3_25401928_ChIP-Seq_HUVEC_Human0.80706692
104PU.1_20513432_ChIP-Seq_Bcells_Mouse0.79481970
105TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.79453011
106MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.79217983
107RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.78374088
108BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.77768090
109CDX2_19796622_ChIP-Seq_MESCs_Mouse0.77670441
110KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.77478749
111* SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.77318441
112* SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.77318441
113GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.76750744
114SMRT_27268052_Chip-Seq_Bcells_Human0.76345609
115CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.75814852
116GATA2_19941826_ChIP-Seq_K562_Human0.75214119
117ESR1_20079471_ChIP-ChIP_T-47D_Human0.74972127
118PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.74813690
119FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.74381710
120SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.73715671
121PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.73505274
122GATA1_19941826_ChIP-Seq_K562_Human0.72439464
123* SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.72283008
124PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.70278275
125TP63_19390658_ChIP-ChIP_HaCaT_Human0.69961728

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.25238755
2MP0002396_abnormal_hematopoietic_system3.54002455
3MP0003763_abnormal_thymus_physiology3.19910261
4MP0005671_abnormal_response_to3.19053093
5MP0001800_abnormal_humoral_immune2.73655228
6MP0005000_abnormal_immune_tolerance2.62113516
7MP0009785_altered_susceptibility_to2.61443135
8MP0002166_altered_tumor_susceptibility2.60600167
9MP0002452_abnormal_antigen_presenting2.53403903
10MP0003436_decreased_susceptibility_to2.49884582
11MP0005464_abnormal_platelet_physiology2.48504060
12MP0002420_abnormal_adaptive_immunity2.46917898
13MP0001819_abnormal_immune_cell2.45057536
14MP0002723_abnormal_immune_serum2.43048390
15MP0002419_abnormal_innate_immunity2.41198154
16MP0001790_abnormal_immune_system2.40225778
17MP0005387_immune_system_phenotype2.40225778
18MP0002398_abnormal_bone_marrow2.39610895
19MP0005025_abnormal_response_to2.35282781
20MP0000685_abnormal_immune_system2.34848723
21MP0002148_abnormal_hypersensitivity_rea2.32170038
22MP0004808_abnormal_hematopoietic_stem2.24359721
23MP0003724_increased_susceptibility_to2.21956898
24MP0002006_tumorigenesis2.11552439
25MP0000716_abnormal_immune_system2.07967885
26MP0000689_abnormal_spleen_morphology2.03766988
27MP0005397_hematopoietic_system_phenotyp2.02102408
28MP0001545_abnormal_hematopoietic_system2.02102408
29MP0000465_gastrointestinal_hemorrhage1.96802679
30MP0005174_abnormal_tail_pigmentation1.96374881
31MP0001853_heart_inflammation1.94860116
32MP0002405_respiratory_system_inflammati1.94687534
33MP0002722_abnormal_immune_system1.89889781
34MP0000569_abnormal_digit_pigmentation1.88339957
35MP0006082_CNS_inflammation1.85003562
36MP0009333_abnormal_splenocyte_physiolog1.81863856
37MP0002429_abnormal_blood_cell1.80691906
38MP0005075_abnormal_melanosome_morpholog1.76391015
39MP0000703_abnormal_thymus_morphology1.74609553
40MP0006054_spinal_hemorrhage1.73829674
41MP0010155_abnormal_intestine_physiology1.71343320
42MP0001873_stomach_inflammation1.70665216
43MP0008057_abnormal_DNA_replication1.67383805
44MP0003300_gastrointestinal_ulcer1.66098635
45MP0005451_abnormal_body_composition1.65552850
46MP0001845_abnormal_inflammatory_respons1.52210691
47MP0000015_abnormal_ear_pigmentation1.49340292
48MP0000858_altered_metastatic_potential1.47777192
49MP0000490_abnormal_crypts_of1.43862665
50MP0004130_abnormal_muscle_cell1.39647116
51MP0003091_abnormal_cell_migration1.39310248
52MP0008260_abnormal_autophagy1.38317689
53MP0004947_skin_inflammation1.37170337
54MP0002009_preneoplasia1.33459062
55MP0008007_abnormal_cellular_replicative1.33193112
56MP0003866_abnormal_defecation1.32931150
57MP0010094_abnormal_chromosome_stability1.29486986
58MP0008004_abnormal_stomach_pH1.29125159
59MP0002132_abnormal_respiratory_system1.28908905
60MP0001533_abnormal_skeleton_physiology1.27312366
61MP0002095_abnormal_skin_pigmentation1.26922231
62MP0004147_increased_porphyrin_level1.22164434
63MP0003303_peritoneal_inflammation1.22044040
64MP0004883_abnormal_blood_vessel1.21842034
65MP0002933_joint_inflammation1.20240424
66MP0005409_darkened_coat_color1.16828251
67MP0008469_abnormal_protein_level1.13718828
68MP0003172_abnormal_lysosome_physiology1.12018475
69MP0009764_decreased_sensitivity_to1.10892336
70MP0003183_abnormal_peptide_metabolism1.10607705
71MP0005058_abnormal_lysosome_morphology1.10568805
72MP0003943_abnormal_hepatobiliary_system1.09845508
73MP0003448_altered_tumor_morphology1.08513485
74MP0004381_abnormal_hair_follicle1.02938925
75MP0005164_abnormal_response_to0.99832944
76MP0002019_abnormal_tumor_incidence0.99064159
77MP0009278_abnormal_bone_marrow0.98887348
78MP0000249_abnormal_blood_vessel0.98864068
79MP0004036_abnormal_muscle_relaxation0.98657956
80MP0001986_abnormal_taste_sensitivity0.98552624
81MP0004484_altered_response_of0.96291520
82MP0003656_abnormal_erythrocyte_physiolo0.96290589
83MP0000343_altered_response_to0.96166665
84MP0002332_abnormal_exercise_endurance0.94720236
85MP0010307_abnormal_tumor_latency0.94686169
86MP0005310_abnormal_salivary_gland0.94562419
87MP0010352_gastrointestinal_tract_polyps0.93954073
88MP0004084_abnormal_cardiac_muscle0.93835455
89MP0002877_abnormal_melanocyte_morpholog0.93671341
90MP0003077_abnormal_cell_cycle0.91350815
91MP0001958_emphysema0.90343167
92MP0002998_abnormal_bone_remodeling0.89475310
93MP0000371_diluted_coat_color0.84772233
94MP0001851_eye_inflammation0.83051624
95MP0004782_abnormal_surfactant_physiolog0.80168315
96MP0005166_decreased_susceptibility_to0.80160677
97MP0004185_abnormal_adipocyte_glucose0.77046612
98MP0009763_increased_sensitivity_to0.76936639
99MP0003221_abnormal_cardiomyocyte_apopto0.76855868
100MP0003279_aneurysm0.76289802
101MP0003828_pulmonary_edema0.76107224
102MP0008058_abnormal_DNA_repair0.75631764
103MP0003693_abnormal_embryo_hatching0.72391171
104MP0003045_fibrosis0.70869016
105MP0003191_abnormal_cellular_cholesterol0.70194554
106MP0004510_myositis0.70115085
107MP0005666_abnormal_adipose_tissue0.69090787
108MP0000372_irregular_coat_pigmentation0.68898485
109MP0005390_skeleton_phenotype0.67141390
110MP0001663_abnormal_digestive_system0.66434898
111MP0003795_abnormal_bone_structure0.66354458
112MP0003075_altered_response_to0.66143697
113MP0009115_abnormal_fat_cell0.65564350
114MP0003566_abnormal_cell_adhesion0.65278625
115MP0002075_abnormal_coat/hair_pigmentati0.64793294
116MP0001243_abnormal_dermal_layer0.64518315
117MP0002060_abnormal_skin_morphology0.63154937
118MP0001191_abnormal_skin_condition0.62770855
119MP0003111_abnormal_nucleus_morphology0.62210437
120MP0005621_abnormal_cell_physiology0.62171904
121MP0005023_abnormal_wound_healing0.61856853
122MP0001186_pigmentation_phenotype0.59988887

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)4.47654423
2Myositis (HP:0100614)4.09506860
3Recurrent viral infections (HP:0004429)4.06656483
4Recurrent bacterial skin infections (HP:0005406)4.01329229
5T lymphocytopenia (HP:0005403)4.00792176
6Abnormality of T cell number (HP:0011839)3.82753933
7Eczematoid dermatitis (HP:0000976)3.77118207
8Thrombocytosis (HP:0001894)3.71809117
9Recurrent fungal infections (HP:0002841)3.67059310
10Elevated erythrocyte sedimentation rate (HP:0003565)3.65947495
11IgM deficiency (HP:0002850)3.62240801
12Chronic otitis media (HP:0000389)3.47596031
13Abnormality of T cells (HP:0002843)3.38814925
14Abnormality of the fingertips (HP:0001211)3.37610255
15Optic neuritis (HP:0100653)3.35679050
16Retrobulbar optic neuritis (HP:0100654)3.35679050
17Abnormality of the prostate (HP:0008775)3.34337756
18Autoimmune hemolytic anemia (HP:0001890)3.31729584
19Meningitis (HP:0001287)3.31216647
20Panhypogammaglobulinemia (HP:0003139)3.26970527
21Agammaglobulinemia (HP:0004432)3.14156218
22Spinal cord lesions (HP:0100561)3.11376463
23Syringomyelia (HP:0003396)3.11376463
24Orchitis (HP:0100796)3.10905369
25Prolonged bleeding time (HP:0003010)3.09704673
26Gastrointestinal infarctions (HP:0005244)3.08289818
27Thyroiditis (HP:0100646)3.05886273
28Abnormal delayed hypersensitivity skin test (HP:0002963)2.99267877
29Keratoconjunctivitis sicca (HP:0001097)2.97893784
30Chronic mucocutaneous candidiasis (HP:0002728)2.96484925
31Recurrent cutaneous fungal infections (HP:0011370)2.96484925
32Petechiae (HP:0000967)2.93990420
33Recurrent bronchitis (HP:0002837)2.93789102
34Spontaneous hematomas (HP:0007420)2.93507750
35Recurrent skin infections (HP:0001581)2.92460761
36Vasculitis (HP:0002633)2.91239025
37Epistaxis (HP:0000421)2.90332533
38Mediastinal lymphadenopathy (HP:0100721)2.88640442
39Abnormality of T cell physiology (HP:0011840)2.84574896
40Encephalitis (HP:0002383)2.84132018
41Cellulitis (HP:0100658)2.82836623
42Obstructive lung disease (HP:0006536)2.77206762
43Chronic obstructive pulmonary disease (HP:0006510)2.77206762
44Menorrhagia (HP:0000132)2.74400854
45Absent frontal sinuses (HP:0002688)2.72508295
46Arterial thrombosis (HP:0004420)2.71694408
47Chromsome breakage (HP:0040012)2.68287999
48Periodontitis (HP:0000704)2.68209825
49Keratoconjunctivitis (HP:0001096)2.67768355
50Severe combined immunodeficiency (HP:0004430)2.65135583
51Lymphopenia (HP:0001888)2.62511703
52Fatigue (HP:0012378)2.61937955
53IgG deficiency (HP:0004315)2.61808961
54Eosinophilia (HP:0001880)2.57937868
55Chronic diarrhea (HP:0002028)2.56117134
56Leukocytosis (HP:0001974)2.54913872
57Abnormality of eosinophils (HP:0001879)2.54292562
58Acute myeloid leukemia (HP:0004808)2.53207767
59B lymphocytopenia (HP:0010976)2.50940374
60Abnormality of B cell number (HP:0010975)2.50940374
61Pulmonary infiltrates (HP:0002113)2.45676435
62Osteomyelitis (HP:0002754)2.44902683
63Abnormality of cells of the lymphoid lineage (HP:0012140)2.44216632
64Abnormal platelet volume (HP:0011876)2.41633135
65Granulocytopenia (HP:0001913)2.40915692
66Lymphoma (HP:0002665)2.39204242
67Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.38390914
68Inflammation of the large intestine (HP:0002037)2.36520194
69IgA deficiency (HP:0002720)2.36169349
70Viral hepatitis (HP:0006562)2.36063773
71Papilledema (HP:0001085)2.35071751
72Prostate neoplasm (HP:0100787)2.33098504
73Combined immunodeficiency (HP:0005387)2.32438049
74Gingival bleeding (HP:0000225)2.30911094
75Hemoptysis (HP:0002105)2.30154716
76Purpura (HP:0000979)2.29627455
77Increased neuronal autofluorescent lipopigment (HP:0002074)2.27207358
78Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.25985621
79Nemaline bodies (HP:0003798)2.25917412
80Chromosomal breakage induced by crosslinking agents (HP:0003221)2.24690079
81Autoimmune thrombocytopenia (HP:0001973)2.24209327
82Conjunctival telangiectasia (HP:0000524)2.24173328
83Gastrointestinal inflammation (HP:0004386)2.21536178
84Verrucae (HP:0200043)2.21120763
85Papilloma (HP:0012740)2.21120763
86Myelodysplasia (HP:0002863)2.20003631
87Increased IgE level (HP:0003212)2.19473786
88Aplastic anemia (HP:0001915)2.18262811
89Abnormality of the vasculature of the conjunctiva (HP:0008054)2.18174805
90Abnormal hair whorl (HP:0010721)2.15888196
91Pustule (HP:0200039)2.15019942
92Abnormality of macrophages (HP:0004311)2.14766687
93Aortic aneurysm (HP:0004942)2.14307189
94Hypoplasia of the thymus (HP:0000778)2.12025491
95Muscle fiber inclusion bodies (HP:0100299)2.10961527
96Urticaria (HP:0001025)2.09849369
97Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.09660247
98Polycythemia (HP:0001901)2.08993537
99Amaurosis fugax (HP:0100576)2.08174954
100Clubbing of toes (HP:0100760)2.07892537
101Osteolytic defects of the hand bones (HP:0009699)2.06711495
102Osteolytic defects of the phalanges of the hand (HP:0009771)2.06711495
103Abnormal platelet function (HP:0011869)2.05993232
104Impaired platelet aggregation (HP:0003540)2.05993232
105Pulmonary embolism (HP:0002204)2.05015576
106Long clavicles (HP:0000890)2.04482678
107Chest pain (HP:0100749)2.03124537
108Increased IgM level (HP:0003496)2.01523833
109Spondylolisthesis (HP:0003302)2.00935991
110Gingivitis (HP:0000230)2.00747494
111Subacute progressive viral hepatitis (HP:0006572)2.00155431
112Stomatitis (HP:0010280)1.99890098
113Colitis (HP:0002583)1.99746067
114Joint swelling (HP:0001386)1.98802021
115Hematochezia (HP:0002573)1.98233087
116Recurrent pneumonia (HP:0006532)1.98218088
117Recurrent gram-negative bacterial infections (HP:0005420)1.97795185
118Increased cerebral lipofuscin (HP:0011813)1.96955141
119Peritonitis (HP:0002586)1.96919248
120Abnormality of the frontal sinuses (HP:0002687)1.96686964
121Keratitis (HP:0000491)1.96674092
122Volvulus (HP:0002580)1.96336380
123Increased mean platelet volume (HP:0011877)1.95645607
124Abnormality of the pleura (HP:0002103)1.92275252
125Abnormality of skeletal muscle fiber size (HP:0012084)1.92105509
126Poikilocytosis (HP:0004447)1.91456634
127Gastrointestinal stroma tumor (HP:0100723)1.89909572

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K14.11993571
2TXK4.09431548
3TEC2.96661872
4MAP3K142.81343415
5KIT2.72417092
6PRPF4B2.62705637
7IRAK42.55459087
8JAK32.43949548
9ITK2.34900147
10NEK92.23508261
11CLK12.16103663
12BTK2.15041805
13ZAP702.14743470
14BMPR22.02749090
15TRPM71.97413162
16TYK21.93279125
17IKBKE1.88400321
18STK101.86000420
19MAP2K31.83450152
20SYK1.76871598
21JAK11.70759806
22CSF1R1.67595639
23TAOK31.62473869
24TGFBR21.56654698
25BLK1.51441186
26IRAK31.50425555
27IKBKB1.46105734
28FGFR31.43997945
29CAMKK21.42545239
30TBK11.40711442
31LCK1.38582436
32ERN11.36053279
33NLK1.32863313
34BRSK21.29763802
35FLT31.26806430
36PIM11.25776563
37CSK1.23100583
38CHUK1.21038127
39SIK31.16889622
40HCK1.14836693
41STK41.12354930
42ZAK1.12001893
43LYN1.11914021
44CDK121.10859548
45MKNK11.03754821
46MST41.03552839
47NUAK11.02344685
48MAP3K100.98158863
49FGFR40.97758829
50MAPK120.92654776
51NME20.91301066
52MARK30.89902312
53IRAK10.89870482
54RPS6KA40.89163305
55PDK10.86144454
56PIK3CG0.84706347
57FGR0.84365367
58OBSCN0.84112501
59MAP3K10.83810177
60MAP3K30.83587662
61MAPK110.81674847
62STK240.81430807
63GRK60.81147948
64EPHB10.80405164
65FES0.79429933
66MAP3K60.78676913
67ATR0.78112635
68RPS6KA60.77305415
69TNK20.75910569
70PIM20.75731454
71PTK2B0.75462840
72TGFBR10.75096540
73MAP3K20.74380634
74PRKCQ0.73065975
75KSR20.72362037
76MKNK20.70531207
77CDK60.70173510
78SCYL20.68458673
79YES10.65076708
80RIPK40.64677755
81MAPKAPK50.63665501
82MAP3K70.63256556
83WNK10.62717542
84EIF2AK10.62223356
85ACVR1B0.61226979
86TTN0.60928273
87FRK0.60060372
88MATK0.59794602
89JAK20.59497922
90EEF2K0.59263138
91RPS6KL10.57656449
92RPS6KC10.57656449
93VRK10.55935687
94CDC70.55516128
95PDGFRB0.54775225
96PDPK10.54270268
97CDK80.54173372
98GRK70.54013825
99TRIB30.53981165
100MAP3K120.53707826
101MYLK0.53261543
102TIE10.53105014
103MELK0.52973017
104MARK20.51758183
105CAMKK10.51388081
106MAP3K130.50807277
107RPS6KA50.50762523
108CDK90.50702665
109RAF10.50273199
110RET0.50153879
111PASK0.49186909
112HIPK20.48865124
113SGK20.47497487
114IRAK20.47368807
115ERBB30.46726025
116RPS6KB20.46040191
117SGK30.45474851
118BRD40.45236022
119EIF2AK20.43650787
120CDC42BPA0.42958466
121MAPK40.42570271
122MAPKAPK20.42434218
123CDK40.40448588
124MAP2K60.40027158
125TAOK20.39943553
126BMX0.39360384
127FYN0.38995401
128PRKCD0.38492248
129EPHA30.38274611
130LRRK20.38248395
131MAPK30.37814732
132GRK50.37702782
133RPS6KB10.37620640
134MOS0.35861606
135MAP3K50.35758402
136GRK10.35544186
137MAPK70.34896009
138ADRBK20.34687054
139IGF1R0.34631474
140ABL10.30912068

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.58836027
2Leishmaniasis_Homo sapiens_hsa051402.62106552
3Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.49619484
4Measles_Homo sapiens_hsa051622.45046446
5Intestinal immune network for IgA production_Homo sapiens_hsa046722.43843831
6NF-kappa B signaling pathway_Homo sapiens_hsa040642.35017594
7Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.17208488
8DNA replication_Homo sapiens_hsa030302.15982738
9Antigen processing and presentation_Homo sapiens_hsa046122.09874263
10B cell receptor signaling pathway_Homo sapiens_hsa046622.08864835
11Hematopoietic cell lineage_Homo sapiens_hsa046402.02476868
12Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.00046488
13Allograft rejection_Homo sapiens_hsa053301.95725769
14Osteoclast differentiation_Homo sapiens_hsa043801.94479359
15T cell receptor signaling pathway_Homo sapiens_hsa046601.82097747
16Graft-versus-host disease_Homo sapiens_hsa053321.80440561
17RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.80196407
18Base excision repair_Homo sapiens_hsa034101.78421249
19Non-homologous end-joining_Homo sapiens_hsa034501.75295450
20Herpes simplex infection_Homo sapiens_hsa051681.72765686
21Jak-STAT signaling pathway_Homo sapiens_hsa046301.70814635
22Toll-like receptor signaling pathway_Homo sapiens_hsa046201.70226620
23NOD-like receptor signaling pathway_Homo sapiens_hsa046211.59043072
24Mismatch repair_Homo sapiens_hsa034301.58722567
25Toxoplasmosis_Homo sapiens_hsa051451.44667540
26Legionellosis_Homo sapiens_hsa051341.44445665
27Hepatitis B_Homo sapiens_hsa051611.38675662
28Influenza A_Homo sapiens_hsa051641.38166312
29Pertussis_Homo sapiens_hsa051331.35499770
30Platelet activation_Homo sapiens_hsa046111.31998884
31Autoimmune thyroid disease_Homo sapiens_hsa053201.30354356
32Malaria_Homo sapiens_hsa051441.28326698
33Homologous recombination_Homo sapiens_hsa034401.27801420
34Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.24922802
35Transcriptional misregulation in cancer_Homo sapiens_hsa052021.24211552
36Other glycan degradation_Homo sapiens_hsa005111.22728786
37Tuberculosis_Homo sapiens_hsa051521.22207454
38Viral myocarditis_Homo sapiens_hsa054161.17596117
39Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.17124443
40Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.14333574
41Chemokine signaling pathway_Homo sapiens_hsa040621.13789612
42Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.13735214
43Apoptosis_Homo sapiens_hsa042101.13721448
44Acute myeloid leukemia_Homo sapiens_hsa052211.12376399
45Leukocyte transendothelial migration_Homo sapiens_hsa046701.11339010
46Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.09541820
47Staphylococcus aureus infection_Homo sapiens_hsa051501.07269656
48Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.06045769
49Renal cell carcinoma_Homo sapiens_hsa052111.05465993
50Shigellosis_Homo sapiens_hsa051311.04224589
51VEGF signaling pathway_Homo sapiens_hsa043701.03531755
52Asthma_Homo sapiens_hsa053101.01945604
53TNF signaling pathway_Homo sapiens_hsa046681.01378465
54Nucleotide excision repair_Homo sapiens_hsa034201.00816311
55Fanconi anemia pathway_Homo sapiens_hsa034600.99415829
56Chronic myeloid leukemia_Homo sapiens_hsa052200.95636178
57RNA degradation_Homo sapiens_hsa030180.94796102
58Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.91170445
59Viral carcinogenesis_Homo sapiens_hsa052030.90214144
60Pancreatic cancer_Homo sapiens_hsa052120.89189090
61Hepatitis C_Homo sapiens_hsa051600.88074713
62Cell cycle_Homo sapiens_hsa041100.86566629
63Glycosaminoglycan degradation_Homo sapiens_hsa005310.85541104
64Endometrial cancer_Homo sapiens_hsa052130.84689844
65Salmonella infection_Homo sapiens_hsa051320.83832936
66mTOR signaling pathway_Homo sapiens_hsa041500.83723830
67p53 signaling pathway_Homo sapiens_hsa041150.83257421
68Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.83211492
69Inositol phosphate metabolism_Homo sapiens_hsa005620.81870905
70Epstein-Barr virus infection_Homo sapiens_hsa051690.80839097
71Dorso-ventral axis formation_Homo sapiens_hsa043200.79990897
72Caffeine metabolism_Homo sapiens_hsa002320.79411403
73HTLV-I infection_Homo sapiens_hsa051660.77497366
74Glioma_Homo sapiens_hsa052140.75806604
75Small cell lung cancer_Homo sapiens_hsa052220.74854407
76Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.74583671
77Insulin resistance_Homo sapiens_hsa049310.74388279
78Spliceosome_Homo sapiens_hsa030400.72279911
79Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.72208278
80AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.71787282
81Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.71517610
82Non-small cell lung cancer_Homo sapiens_hsa052230.71262713
83SNARE interactions in vesicular transport_Homo sapiens_hsa041300.70109730
84Choline metabolism in cancer_Homo sapiens_hsa052310.70077709
85Adipocytokine signaling pathway_Homo sapiens_hsa049200.69507174
86Phospholipase D signaling pathway_Homo sapiens_hsa040720.68781990
87Lysosome_Homo sapiens_hsa041420.68221625
88Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.67198944
89Thyroid cancer_Homo sapiens_hsa052160.65125894
90GnRH signaling pathway_Homo sapiens_hsa049120.64420237
91Focal adhesion_Homo sapiens_hsa045100.63867982
92African trypanosomiasis_Homo sapiens_hsa051430.60387299
93Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.60242010
94Regulation of actin cytoskeleton_Homo sapiens_hsa048100.59977602
95Amoebiasis_Homo sapiens_hsa051460.57933593
96Vascular smooth muscle contraction_Homo sapiens_hsa042700.57504427
97Prolactin signaling pathway_Homo sapiens_hsa049170.56649957
98Systemic lupus erythematosus_Homo sapiens_hsa053220.55990358
99Phagosome_Homo sapiens_hsa041450.54520128
100ErbB signaling pathway_Homo sapiens_hsa040120.54495948
101Long-term potentiation_Homo sapiens_hsa047200.54243308
102Endocytosis_Homo sapiens_hsa041440.53270925
103MAPK signaling pathway_Homo sapiens_hsa040100.52971672
104HIF-1 signaling pathway_Homo sapiens_hsa040660.52519203
105Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.50639456
106Carbohydrate digestion and absorption_Homo sapiens_hsa049730.50637003
107Rheumatoid arthritis_Homo sapiens_hsa053230.49501062
108Neurotrophin signaling pathway_Homo sapiens_hsa047220.48740419
109Type I diabetes mellitus_Homo sapiens_hsa049400.48669469
110Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47434610
111Basal transcription factors_Homo sapiens_hsa030220.46315655
112Proteoglycans in cancer_Homo sapiens_hsa052050.45730077
113ABC transporters_Homo sapiens_hsa020100.45522882
114Insulin signaling pathway_Homo sapiens_hsa049100.45355109
115Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.44727305
116FoxO signaling pathway_Homo sapiens_hsa040680.44431656
117N-Glycan biosynthesis_Homo sapiens_hsa005100.43738548
118MicroRNAs in cancer_Homo sapiens_hsa052060.43558681
119Ribosome_Homo sapiens_hsa030100.42914148
120Prostate cancer_Homo sapiens_hsa052150.41447171
121Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.37120697
122Pyrimidine metabolism_Homo sapiens_hsa002400.35863743
123Colorectal cancer_Homo sapiens_hsa052100.33365085
124Protein export_Homo sapiens_hsa030600.32808773
125Notch signaling pathway_Homo sapiens_hsa043300.32458185
126Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.32441185
127Sphingolipid signaling pathway_Homo sapiens_hsa040710.32163766
128Phosphatidylinositol signaling system_Homo sapiens_hsa040700.31856679
129One carbon pool by folate_Homo sapiens_hsa006700.31643122

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