IL1B

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: The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* regulation of vitamin D biosynthetic process (GO:0060556)6.54729636
2response to peptidoglycan (GO:0032494)6.33657128
3modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.79306931
4positive regulation by organism of defense response of other organism involved in symbiotic interact5.79306931
5modulation by symbiont of host immune response (GO:0052553)5.79306931
6positive regulation by symbiont of host defense response (GO:0052509)5.79306931
7modulation by symbiont of host defense response (GO:0052031)5.79306931
8modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.79306931
9neutrophil activation involved in immune response (GO:0002283)5.39457982
10hydrogen peroxide biosynthetic process (GO:0050665)5.05912277
11* regulation of vitamin metabolic process (GO:0030656)5.04777188
12regulation of cytokine secretion involved in immune response (GO:0002739)5.02828201
13antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.96560324
14positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)4.84733356
15* lipopolysaccharide-mediated signaling pathway (GO:0031663)4.81929716
16respiratory burst (GO:0045730)4.74827555
17macrophage activation involved in immune response (GO:0002281)4.56464204
18positive regulation of interferon-alpha production (GO:0032727)4.52605378
19reactive oxygen species biosynthetic process (GO:1903409)4.47233310
20immunoglobulin mediated immune response (GO:0016064)4.32141314
21regulation of interferon-alpha production (GO:0032647)4.31075044
22superoxide anion generation (GO:0042554)4.30290676
23granulocyte activation (GO:0036230)4.29937686
24response to muramyl dipeptide (GO:0032495)4.19779451
25positive regulation of cellular amide metabolic process (GO:0034250)4.13421349
26* positive regulation of chemokine biosynthetic process (GO:0045080)4.12477933
27positive regulation of mast cell activation involved in immune response (GO:0033008)4.07294662
28positive regulation of mast cell degranulation (GO:0043306)4.07294662
29positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.96063685
30cellular response to nicotine (GO:0071316)3.93518083
31negative regulation of cytokine production involved in immune response (GO:0002719)3.90903309
32response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.85591785
33response to host immune response (GO:0052572)3.85591785
34germinal center formation (GO:0002467)3.84654791
35* regulation of chemokine biosynthetic process (GO:0045073)3.84497323
36neutrophil activation (GO:0042119)3.81070990
37T-helper 1 type immune response (GO:0042088)3.78294345
38* regulation of heat generation (GO:0031650)3.77764366
39NIK/NF-kappaB signaling (GO:0038061)3.73786021
40detection of molecule of bacterial origin (GO:0032490)3.67824018
41* cellular response to lipopolysaccharide (GO:0071222)3.63481655
42negative regulation of interleukin-17 production (GO:0032700)3.62846371
43production of molecular mediator involved in inflammatory response (GO:0002532)3.62468906
44regulation of activation of Janus kinase activity (GO:0010533)3.62379197
45* positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.62032348
46regulation of T-helper 2 cell differentiation (GO:0045628)3.61069955
47regulation of podosome assembly (GO:0071801)3.60813064
48regulation of interleukin-8 biosynthetic process (GO:0045414)3.59303914
49branching involved in labyrinthine layer morphogenesis (GO:0060670)3.58072438
50positive regulation of mast cell activation (GO:0033005)3.57653543
51defense response to protozoan (GO:0042832)3.56967209
52* positive regulation of nitric oxide biosynthetic process (GO:0045429)3.56894962
53myeloid cell activation involved in immune response (GO:0002275)3.56484076
54positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.53999314
55* cellular response to molecule of bacterial origin (GO:0071219)3.51352068
56microglial cell activation (GO:0001774)3.49804264
57regulation of T-helper 1 cell differentiation (GO:0045625)3.49456295
58regulation of nitric-oxide synthase biosynthetic process (GO:0051769)3.47394986
59regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.47021211
60regulation of syncytium formation by plasma membrane fusion (GO:0060142)3.45329309
61response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.44976072
62response to host (GO:0075136)3.44976072
63response to host defenses (GO:0052200)3.44976072
64* regulation of NF-kappaB import into nucleus (GO:0042345)3.44932030
65negative regulation of interleukin-12 production (GO:0032695)3.44578053
66* regulation of nitric oxide biosynthetic process (GO:0045428)3.43381605
67regulation of mast cell degranulation (GO:0043304)3.42804721
68negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)3.41992080
69natural killer cell mediated cytotoxicity (GO:0042267)3.39693531
70natural killer cell mediated immunity (GO:0002228)3.39693531
71regulation of chronic inflammatory response (GO:0002676)3.39423327
72positive regulation of myeloid leukocyte mediated immunity (GO:0002888)3.34947762
73* positive regulation of heat generation (GO:0031652)3.34570619
74macrophage activation (GO:0042116)3.34397159
75* positive regulation of membrane protein ectodomain proteolysis (GO:0051044)3.34395709
76* positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)3.32704912
77cytokine secretion (GO:0050663)3.31864999
78positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610813.31657364
79positive regulation of type 2 immune response (GO:0002830)3.30863959
80positive regulation of interferon-beta production (GO:0032728)3.29869459
81positive regulation of gamma-delta T cell activation (GO:0046645)3.29758160
82regulation of interferon-beta biosynthetic process (GO:0045357)3.29730087
83* positive regulation of acute inflammatory response (GO:0002675)3.29165006
84regulation of mononuclear cell migration (GO:0071675)3.28493186
85positive regulation of inflammatory response to antigenic stimulus (GO:0002863)3.27050695
86interferon-gamma-mediated signaling pathway (GO:0060333)3.25680166
87eosinophil chemotaxis (GO:0048245)3.25539060
88regulation of interleukin-17 production (GO:0032660)3.24789478
89positive regulation of interleukin-12 production (GO:0032735)3.24621260
90neutrophil mediated immunity (GO:0002446)3.24605630
91* regulation of fever generation (GO:0031620)3.24308600
92* regulation of membrane protein ectodomain proteolysis (GO:0051043)3.23477846
93positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)3.22926088
94type I interferon signaling pathway (GO:0060337)3.22473414
95cellular response to type I interferon (GO:0071357)3.22473414
96* positive regulation of interleukin-6 production (GO:0032755)3.22197480
97leukocyte mediated cytotoxicity (GO:0001909)3.20958208
98positive regulation of interleukin-17 production (GO:0032740)3.19727231
99regulation of interleukin-12 production (GO:0032655)3.19157421
100negative regulation of production of molecular mediator of immune response (GO:0002701)3.18848654
101response to type I interferon (GO:0034340)3.18428730
102monocyte chemotaxis (GO:0002548)3.18319409
103lymphocyte chemotaxis (GO:0048247)3.17574359
104regulation of mast cell activation involved in immune response (GO:0033006)3.16959734
105negative regulation of lipid storage (GO:0010888)3.16120303
106positive regulation of tumor necrosis factor production (GO:0032760)3.15172324
107positive regulation of T-helper cell differentiation (GO:0045624)3.14470281
108positive regulation of leukocyte degranulation (GO:0043302)3.13901736
109regulation of interleukin-12 biosynthetic process (GO:0045075)3.13866217
110negative regulation of viral genome replication (GO:0045071)3.13625229
111cellular response to interferon-beta (GO:0035458)3.13219672
112positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)3.12701222
113negative regulation of nitric oxide biosynthetic process (GO:0045019)3.12602979
114regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.12281565
115positive regulation of alpha-beta T cell proliferation (GO:0046641)3.11376168
116B cell mediated immunity (GO:0019724)3.10013813
117* positive regulation of chemokine production (GO:0032722)3.09826509
118response to protozoan (GO:0001562)3.09752121
119negative regulation of myeloid cell apoptotic process (GO:0033033)3.08591947
120regulation of T-helper cell differentiation (GO:0045622)3.08398711
121cellular extravasation (GO:0045123)3.07310488
122regulation of immunoglobulin secretion (GO:0051023)3.05398001
123* cellular response to biotic stimulus (GO:0071216)3.04543949
124regulation of dendritic cell antigen processing and presentation (GO:0002604)3.01463883
125modulation of growth of symbiont involved in interaction with host (GO:0044144)3.01407864
126regulation of growth of symbiont in host (GO:0044126)3.01407864
127negative regulation of growth of symbiont in host (GO:0044130)3.01407864
128negative regulation of growth of symbiont involved in interaction with host (GO:0044146)3.01407864
129regulation of mast cell activation (GO:0033003)3.01062637
130* positive regulation of NF-kappaB import into nucleus (GO:0042346)3.00749507
131negative regulation of amino acid transport (GO:0051956)3.00255395
132activation of MAPKKK activity (GO:0000185)3.00079081
133* regulation of vascular endothelial growth factor production (GO:0010574)2.99469836
134myeloid dendritic cell differentiation (GO:0043011)2.98004887
135negative regulation of interleukin-1 beta production (GO:0032691)2.94862837
136positive regulation of interleukin-1 beta secretion (GO:0050718)2.92778124
137* positive regulation of heterotypic cell-cell adhesion (GO:0034116)2.90291891
138* positive regulation of transcription factor import into nucleus (GO:0042993)2.86366450
139regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)2.86303698
140positive regulation of toll-like receptor signaling pathway (GO:0034123)2.85928852
141response to manganese ion (GO:0010042)2.82343141
142* regulation of interleukin-6 production (GO:0032675)2.82295682
143positive regulation of interleukin-10 production (GO:0032733)2.82265751
144regulation of type 2 immune response (GO:0002828)2.80998768

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.92320368
2IRF8_21731497_ChIP-ChIP_J774_Mouse7.31187830
3IRF8_22096565_ChIP-ChIP_GC-B_Human6.93864839
4* IRF8_27001747_Chip-Seq_BMDM_Mouse4.45724099
5* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse4.10884359
6IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.02946657
7IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.99452340
8Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse3.91511301
9* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human3.78735658
10NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.72783340
11EGR1_19374776_ChIP-ChIP_THP-1_Human3.13692396
12* MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.97741613
13MYB_21317192_ChIP-Seq_ERMYB_Mouse2.91947988
14STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.90896840
15FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.78935917
16STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.67300091
17STAT4_19710469_ChIP-ChIP_TH1__Mouse2.46806267
18* SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.46513022
19NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.08953108
20NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.06031360
21STAT6_21828071_ChIP-Seq_BEAS2B_Human2.04052378
22PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse2.01132048
23STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.98185008
24BRD4_27068464_Chip-Seq_AML-cells_Mouse1.89991330
25* SPI1_23547873_ChIP-Seq_NB4_Human1.83889699
26STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.80219818
27VDR_24787735_ChIP-Seq_THP-1_Human1.79064900
28TP63_17297297_ChIP-ChIP_HaCaT_Human1.78669735
29PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.75111920
30CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.72271910
31GATA1_22025678_ChIP-Seq_K562_Human1.68865668
32PU_27001747_Chip-Seq_BMDM_Mouse1.64591905
33CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.62275896
34VDR_24763502_ChIP-Seq_THP-1_Human1.58895261
35RUNX_20019798_ChIP-Seq_JUKART_Human1.54907366
36THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.52537307
37ESR2_21235772_ChIP-Seq_MCF-7_Human1.47710150
38CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.47356079
39KDM2B_26808549_Chip-Seq_SUP-B15_Human1.43791284
40* MYB_26560356_Chip-Seq_TH2_Human1.41143391
41KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.40174457
42KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.40174457
43KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.40174457
44SPI1_23127762_ChIP-Seq_K562_Human1.37812257
45CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.36500252
46RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.35689013
47* SMAD_19615063_ChIP-ChIP_OVARY_Human1.30868884
48TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.29537759
49RUNX1_22412390_ChIP-Seq_EML_Mouse1.28773030
50PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.25650217
51TCF7_22412390_ChIP-Seq_EML_Mouse1.24675734
52TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.23376961
53FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.22760181
54NRF2_20460467_ChIP-Seq_MEFs_Mouse1.20820841
55NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.20820841
56SCL_19346495_ChIP-Seq_HPC-7_Human1.20671741
57ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.20402180
58CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.19242863
59IKZF1_21737484_ChIP-ChIP_HCT116_Human1.17255544
60SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.14703315
61MAF_26560356_Chip-Seq_TH1_Human1.11473529
62VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.10609238
63KDM2B_26808549_Chip-Seq_DND41_Human1.10559352
64TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.09547428
65PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.09294459
66GATA3_26560356_Chip-Seq_TH2_Human1.07174866
67CDX2_19796622_ChIP-Seq_MESCs_Mouse1.06887577
68LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.04883907
69GATA3_27048872_Chip-Seq_THYMUS_Human1.04357545
70GATA1_19941827_ChIP-Seq_MEL_Mouse1.04332537
71GATA2_21666600_ChIP-Seq_HMVEC_Human1.04125539
72NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.01843802
73MYB_26560356_Chip-Seq_TH1_Human1.01624024
74* MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.01222415
75KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.00400831
76SOX2_20726797_ChIP-Seq_SW620_Human0.95909249
77ESR1_21235772_ChIP-Seq_MCF-7_Human0.92761313
78MYC_22102868_ChIP-Seq_BL_Human0.90573335
79LXR_22292898_ChIP-Seq_THP-1_Human0.88927165
80CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.88266377
81JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.87233952
82TRIM28_21343339_ChIP-Seq_HEK293_Human0.87233585
83VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.84580627
84SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.83931419
85EGR1_19032775_ChIP-ChIP_M12_Human0.82963857
86* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.81489183
87LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.81269715
88GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.80996788
89JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.80630261
90FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.80366778
91STAT1_20625510_ChIP-Seq_HELA_Human0.79616021
92GATA2_22383799_ChIP-Seq_G1ME_Mouse0.79330778
93KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.79006606
94GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78636071
95* GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.77432627
96UBF1/2_26484160_Chip-Seq_HMECs_Human0.76578660
97E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.76322952
98KDM2B_26808549_Chip-Seq_K562_Human0.75791978
99CJUN_26792858_Chip-Seq_BT549_Human0.75635297
100TFEB_21752829_ChIP-Seq_HELA_Human0.74782199
101SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.73334408
102ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.72740615
103CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.72073708
104SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.71646724
105SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.71646724
106UTX_26944678_Chip-Seq_JUKART_Human0.70261912
107SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.69580148
108RARG_19884340_ChIP-ChIP_MEFs_Mouse0.69215229
109FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.67283020
110CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.66026657
111SPI1_20517297_ChIP-Seq_HL60_Human0.65682832
112EGR1_23403033_ChIP-Seq_LIVER_Mouse0.64643854
113GATA2_19941826_ChIP-Seq_K562_Human0.64326831
114VDR_21846776_ChIP-Seq_THP-1_Human0.61895613
115P63_26484246_Chip-Seq_KERATINOCYTES_Human0.59177514
116MAF_26560356_Chip-Seq_TH2_Human0.57916493
117PU.1_20513432_ChIP-Seq_Bcells_Mouse0.57633702
118GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.56659772
119ELK3_25401928_ChIP-Seq_HUVEC_Human0.55132929
120GATA1_19941826_ChIP-Seq_K562_Human0.54885909
121RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.53943121
122LXR_22158963_ChIP-Seq_LIVER_Mouse0.49572107

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0009785_altered_susceptibility_to4.55079903
2MP0001835_abnormal_antigen_presentation4.31664361
3MP0003436_decreased_susceptibility_to4.05642867
4MP0003724_increased_susceptibility_to3.96166057
5MP0003303_peritoneal_inflammation3.93054622
6MP0006082_CNS_inflammation3.73678199
7* MP0002148_abnormal_hypersensitivity_rea3.72970260
8* MP0002419_abnormal_innate_immunity3.50719928
9* MP0005000_abnormal_immune_tolerance3.39859209
10* MP0005025_abnormal_response_to3.22758584
11MP0004510_myositis2.74790913
12* MP0002452_abnormal_antigen_presenting2.63697829
13MP0005387_immune_system_phenotype2.62189710
14MP0001790_abnormal_immune_system2.62189710
15* MP0002723_abnormal_immune_serum2.54445805
16MP0001800_abnormal_humoral_immune2.38113151
17MP0005671_abnormal_response_to2.37638186
18MP0004947_skin_inflammation2.37421344
19MP0000685_abnormal_immune_system2.30083186
20MP0001533_abnormal_skeleton_physiology2.23011653
21* MP0009764_decreased_sensitivity_to2.21026211
22MP0003075_altered_response_to2.19220938
23* MP0001819_abnormal_immune_cell2.18335398
24MP0009278_abnormal_bone_marrow2.15955095
25MP0001853_heart_inflammation2.14148293
26* MP0002420_abnormal_adaptive_immunity2.14130959
27MP0005464_abnormal_platelet_physiology2.05917818
28MP0005058_abnormal_lysosome_morphology2.00896788
29MP0002139_abnormal_hepatobiliary_system1.99286410
30* MP0001845_abnormal_inflammatory_respons1.99212156
31MP0002405_respiratory_system_inflammati1.88413144
32* MP0008469_abnormal_protein_level1.85174397
33MP0000343_altered_response_to1.83965795
34* MP0003448_altered_tumor_morphology1.72487750
35MP0010155_abnormal_intestine_physiology1.69339987
36MP0003195_calcinosis1.65684146
37MP0009333_abnormal_splenocyte_physiolog1.63834165
38MP0006054_spinal_hemorrhage1.54465510
39MP0005164_abnormal_response_to1.52237087
40MP0003186_abnormal_redox_activity1.49564799
41* MP0002006_tumorigenesis1.46209495
42* MP0000858_altered_metastatic_potential1.43402540
43MP0003828_pulmonary_edema1.42846187
44MP0000716_abnormal_immune_system1.42497578
45* MP0002998_abnormal_bone_remodeling1.38908533
46MP0005397_hematopoietic_system_phenotyp1.34874893
47MP0001545_abnormal_hematopoietic_system1.34874893
48MP0003690_abnormal_glial_cell1.34118048
49* MP0005166_decreased_susceptibility_to1.31762355
50MP0000604_amyloidosis1.31660861
51MP0003191_abnormal_cellular_cholesterol1.30778665
52MP0003646_muscle_fatigue1.29297485
53MP0002332_abnormal_exercise_endurance1.28726910
54MP0002277_abnormal_respiratory_mucosa1.28608589
55MP0005310_abnormal_salivary_gland1.27061618
56MP0003172_abnormal_lysosome_physiology1.27009392
57MP0004858_abnormal_nervous_system1.23771845
58MP0002398_abnormal_bone_marrow1.23595138
59MP0003806_abnormal_nucleotide_metabolis1.20831582
60MP0009763_increased_sensitivity_to1.13171680
61MP0002429_abnormal_blood_cell1.08227373
62MP0005390_skeleton_phenotype1.06259808
63MP0005076_abnormal_cell_differentiation1.05728093
64MP0003453_abnormal_keratinocyte_physiol1.05275842
65MP0002254_reproductive_system_inflammat1.04376946
66MP0010352_gastrointestinal_tract_polyps1.03228615
67MP0000569_abnormal_digit_pigmentation0.97151459
68MP0000689_abnormal_spleen_morphology0.96891526
69MP0004782_abnormal_surfactant_physiolog0.94373568
70MP0001663_abnormal_digestive_system0.92548228
71MP0002722_abnormal_immune_system0.92119368
72MP0008260_abnormal_autophagy0.91575594
73MP0003300_gastrointestinal_ulcer0.91075380
74MP0001501_abnormal_sleep_pattern0.90486483
75MP0003183_abnormal_peptide_metabolism0.88204117
76MP0002933_joint_inflammation0.87374667
77MP0009840_abnormal_foam_cell0.86597129
78MP0005023_abnormal_wound_healing0.84526845
79MP0008004_abnormal_stomach_pH0.81513681
80MP0001851_eye_inflammation0.79961640
81MP0004808_abnormal_hematopoietic_stem0.79862213
82MP0002138_abnormal_hepatobiliary_system0.78297335
83MP0008874_decreased_physiological_sensi0.75747222
84MP0001542_abnormal_bone_strength0.74904273
85MP0004883_abnormal_blood_vessel0.72814752
86MP0003656_abnormal_erythrocyte_physiolo0.72474300
87MP0003045_fibrosis0.71477612
88MP0005647_abnormal_sex_gland0.70655424
89MP0000371_diluted_coat_color0.68852039
90MP0003795_abnormal_bone_structure0.68499171
91MP0003091_abnormal_cell_migration0.66879972
92MP0002136_abnormal_kidney_physiology0.66062190
93* MP0000249_abnormal_blood_vessel0.65215175
94* MP0005167_abnormal_blood-brain_barrier0.64314477
95* MP0005535_abnormal_body_temperature0.63618576
96MP0005266_abnormal_metabolism0.63584873
97MP0003763_abnormal_thymus_physiology0.63022249
98MP0000465_gastrointestinal_hemorrhage0.62764183
99MP0009765_abnormal_xenobiotic_induced0.62523073
100MP0002877_abnormal_melanocyte_morpholog0.60829802
101MP0001727_abnormal_embryo_implantation0.60166138
102MP0002693_abnormal_pancreas_physiology0.59763377
103MP0002166_altered_tumor_susceptibility0.59439493
104MP0008873_increased_physiological_sensi0.58930798
105MP0003705_abnormal_hypodermis_morpholog0.58720986
106MP0000750_abnormal_muscle_regeneration0.58595451
107* MP0000920_abnormal_myelination0.58330767
108MP0005451_abnormal_body_composition0.57892763
109MP0005595_abnormal_vascular_smooth0.57274335
110MP0005319_abnormal_enzyme/_coenzyme0.55879418
111MP0005381_digestive/alimentary_phenotyp0.55105440
112MP0003566_abnormal_cell_adhesion0.55000824
113MP0005174_abnormal_tail_pigmentation0.49367384
114MP0000767_abnormal_smooth_muscle0.49188613
115MP0002295_abnormal_pulmonary_circulatio0.48341347
116MP0001958_emphysema0.48189875
117MP0005584_abnormal_enzyme/coenzyme_acti0.48158402
118MP0005165_increased_susceptibility_to0.45990821
119MP0002168_other_aberrant_phenotype0.45785005

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)8.03135359
2Eczematoid dermatitis (HP:0000976)8.01524770
3Recurrent bacterial skin infections (HP:0005406)7.48866543
4Recurrent gram-negative bacterial infections (HP:0005420)7.03478861
5Mediastinal lymphadenopathy (HP:0100721)6.61390018
6Stomatitis (HP:0010280)5.64431925
7Abnormality of macrophages (HP:0004311)5.39437910
8Elevated erythrocyte sedimentation rate (HP:0003565)5.39287742
9Autoimmune thrombocytopenia (HP:0001973)4.95036779
10Gingivitis (HP:0000230)4.70874896
11Orchitis (HP:0100796)4.61523419
12Optic neuritis (HP:0100653)4.47296103
13Retrobulbar optic neuritis (HP:0100654)4.47296103
14Recurrent skin infections (HP:0001581)4.38399135
15Myositis (HP:0100614)4.22939290
16Vasculitis (HP:0002633)4.02465313
17Obstructive lung disease (HP:0006536)3.97979988
18Chronic obstructive pulmonary disease (HP:0006510)3.97979988
19Loss of speech (HP:0002371)3.94881369
20Systemic lupus erythematosus (HP:0002725)3.87122094
21Increased IgM level (HP:0003496)3.75574182
22Recurrent fungal infections (HP:0002841)3.75297287
23Interstitial pulmonary disease (HP:0006530)3.55583175
24Tetraparesis (HP:0002273)3.46959327
25Increased neuronal autofluorescent lipopigment (HP:0002074)3.45621740
26Thick nail (HP:0001805)3.45243368
27Prostate neoplasm (HP:0100787)3.43828209
28Increased cerebral lipofuscin (HP:0011813)3.42874571
29Basal ganglia calcification (HP:0002135)3.31422865
30Mutism (HP:0002300)3.26961774
31Cellulitis (HP:0100658)3.25621096
32Recurrent viral infections (HP:0004429)3.25606019
33Urticaria (HP:0001025)3.22388187
34Neurofibrillary tangles (HP:0002185)3.22109013
35Vacuolated lymphocytes (HP:0001922)3.19408098
36Gastrointestinal infarctions (HP:0005244)3.19195695
37Axonal loss (HP:0003447)3.16771796
38Episodic fever (HP:0001954)3.11707923
39Periodontitis (HP:0000704)3.09646079
40Pulmonary infiltrates (HP:0002113)3.06331489
41Nuclear cataract (HP:0100018)3.04940902
42Pustule (HP:0200039)3.02004413
43Esophageal neoplasm (HP:0100751)2.99397677
44Neoplasm of head and neck (HP:0012288)2.99397677
45Parakeratosis (HP:0001036)2.92371704
46Premature loss of primary teeth (HP:0006323)2.91854483
47Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.86552209
48Abnormality of mucopolysaccharide metabolism (HP:0011020)2.79051027
49Abnormality of polysaccharide metabolism (HP:0011012)2.79051027
50Abnormality of glycosaminoglycan metabolism (HP:0004371)2.79051027
51Recurrent pneumonia (HP:0006532)2.76154441
52Polyneuropathy (HP:0001271)2.75524689
53Apathy (HP:0000741)2.65435668
54Meningitis (HP:0001287)2.64370445
55Glomerulonephritis (HP:0000099)2.63099465
56Leukocytosis (HP:0001974)2.62455279
57Hypergammaglobulinemia (HP:0010702)2.61787768
58Disinhibition (HP:0000734)2.61576722
59Recurrent cutaneous fungal infections (HP:0011370)2.60752324
60Chronic mucocutaneous candidiasis (HP:0002728)2.60752324
61Keratoconjunctivitis sicca (HP:0001097)2.60376038
62Diminished motivation (HP:0000745)2.58052322
63Urinary glycosaminoglycan excretion (HP:0003541)2.56965008
64Mucopolysacchariduria (HP:0008155)2.56965008
65Arterial thrombosis (HP:0004420)2.51239725
66Osteomyelitis (HP:0002754)2.49965793
67Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.48607500
68Hemoptysis (HP:0002105)2.47732844
69Recurrent lower respiratory tract infections (HP:0002783)2.43463826
70Peritonitis (HP:0002586)2.43237694
71Myocardial infarction (HP:0001658)2.40958396
72Poor head control (HP:0002421)2.39602641
73Abnormality of the pericardium (HP:0001697)2.36732757
74Keratoconjunctivitis (HP:0001096)2.36711631
75Nausea (HP:0002018)2.35139139
76Petechiae (HP:0000967)2.33996518
77Abnormality of liposaccharide metabolism (HP:0010968)2.32069792
78Abnormality of glycosphingolipid metabolism (HP:0004343)2.32069792
79Abnormality of glycolipid metabolism (HP:0010969)2.32069792
80Neuronal loss in central nervous system (HP:0002529)2.30654864
81Abnormality of iron homeostasis (HP:0011031)2.30097364
82Encephalitis (HP:0002383)2.27878055
83Cerebral inclusion bodies (HP:0100314)2.27649183
84Progressive neurologic deterioration (HP:0002344)2.27324933
85Gingival bleeding (HP:0000225)2.26895075
86Porencephaly (HP:0002132)2.26212717
87Metaphyseal irregularity (HP:0003025)2.25255041
88Bone pain (HP:0002653)2.24973943
89Joint swelling (HP:0001386)2.24825918
90Vertigo (HP:0002321)2.24558292
91Hepatosplenomegaly (HP:0001433)2.19179592
92Nephritis (HP:0000123)2.17208650
93Increased IgE level (HP:0003212)2.15509920
94Abnormality of the vasculature of the conjunctiva (HP:0008054)2.14798148
95Abnormality of the pleura (HP:0002103)2.14192533
96T lymphocytopenia (HP:0005403)2.13008651
97Autoimmune hemolytic anemia (HP:0001890)2.11458677
98Anorexia (HP:0002039)2.11456268
99Osteolytic defects of the phalanges of the hand (HP:0009771)2.10655509
100Osteolytic defects of the hand bones (HP:0009699)2.10655509
101Arthralgia (HP:0002829)2.10400441
102Inappropriate behavior (HP:0000719)2.09528732
103Hematochezia (HP:0002573)2.09231766
104Amyloidosis (HP:0011034)2.08215431
105Purpura (HP:0000979)2.05501155
106Malnutrition (HP:0004395)2.01460919
107Gangrene (HP:0100758)1.98657584
108Agnosia (HP:0010524)1.98273432
109Acne (HP:0001061)1.96329494
110Restrictive lung disease (HP:0002091)1.96311469
111Pulmonary embolism (HP:0002204)1.95706535
112Memory impairment (HP:0002354)1.95499533
113Gastrointestinal stroma tumor (HP:0100723)1.93496540
114Thin bony cortex (HP:0002753)1.93469128
115Chronic otitis media (HP:0000389)1.92899512
116Glomerulopathy (HP:0100820)1.91996339
117Keratitis (HP:0000491)1.91333770
118Progressive visual loss (HP:0000529)1.90542457
119Sepsis (HP:0100806)1.90244765
120Skin ulcer (HP:0200042)1.88775689
121Vertebral compression fractures (HP:0002953)1.88578313
122Joint hemorrhage (HP:0005261)1.88388729
123Abnormality of the endocardium (HP:0004306)1.87608694
124Abnormality of the prostate (HP:0008775)1.85475670
125Amaurosis fugax (HP:0100576)1.84399252
126Abnormality of transition element cation homeostasis (HP:0011030)1.84353169
127Asymmetric septal hypertrophy (HP:0001670)1.82249807
128Dysostosis multiplex (HP:0000943)1.78213895
129Increased serum ferritin (HP:0003281)1.78091148
130Eosinophilia (HP:0001880)1.75202327
131Hemorrhage of the eye (HP:0011885)1.72558438
132Abnormality of T cell number (HP:0011839)1.68612694
133Lower limb hyperreflexia (HP:0002395)1.66731194
134Pathologic fracture (HP:0002756)1.66701513
135Cheilitis (HP:0100825)1.66627673
136Prolonged neonatal jaundice (HP:0006579)1.66208491

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K145.57198584
2RIPK45.51222834
3PBK4.09599711
4TBK13.84826701
5BLK3.79354348
6IRAK33.56969557
7DDR23.29888115
8TXK2.89506262
9IRAK42.87614748
10TAOK22.74600096
11IKBKE2.70031685
12IKBKB2.58719927
13TYK22.42304495
14JAK32.33335474
15MAP4K12.12551712
16TAOK11.93130934
17CHUK1.92109609
18PRPF4B1.85379987
19CSK1.84537784
20PIM21.78442642
21ERN11.70439112
22MAP3K131.65968229
23FGR1.61554450
24JAK11.58218052
25CDC42BPA1.46723870
26EPHB11.45305733
27BMPR21.35280207
28MST41.35196161
29BMX1.32380892
30RIPK11.31716240
31TYRO31.31612456
32ZAP701.27252364
33LATS21.26978066
34ARAF1.24329109
35KIT1.22793303
36MST1R1.22670720
37ABL21.17314908
38HCK1.17015764
39ERBB41.16539234
40SYK1.16066838
41LYN1.14448415
42JAK21.13270638
43EIF2AK21.10166909
44MATK1.08480828
45EPHA31.03198112
46STK241.02212513
47MARK30.99930303
48PIM10.96541589
49IRAK10.95373452
50RPS6KA40.95298185
51YES10.93714842
52LCK0.88964974
53PDGFRA0.86707342
54FGFR30.83084717
55CSF1R0.81881243
56MAP3K50.77963050
57PRKCD0.76273368
58CLK10.74228819
59BTK0.73259100
60FGFR40.70871515
61ACVR1B0.70866961
62IRAK20.69945692
63FES0.65451274
64KSR20.63967926
65EGFR0.63716688
66NME20.63425416
67STK40.62982535
68ABL10.61698129
69SIK30.55478121
70STK100.55212112
71MAP3K10.53406967
72GRK70.51158708
73TEC0.49701885
74NEK90.46700971
75DYRK30.44498488
76PRKCQ0.44054858
77STK30.42788006
78FYN0.42352608
79ERBB30.42130920
80MAPK40.42026037
81PDPK10.41704663
82LRRK20.40835173
83MAP3K110.38621499
84CDK60.38174851
85PIK3CG0.37890028
86MAP3K100.37193897
87TAOK30.36630474
88MAP3K90.36563958
89MOS0.34404609
90PDK10.34389011
91PRKG20.32875781
92MAPKAPK20.32268358
93ALK0.31643392
94RPS6KL10.31086608
95RPS6KC10.31086608
96MAP2K60.30617871
97TTN0.29657346
98MAP2K30.28931715
99HIPK20.28219422
100BMPR1B0.27407273
101DAPK30.27107480
102ADRBK20.26915942
103TRPM70.24923610
104RAF10.23747243
105PDGFRB0.23653909
106INSR0.23347221
107RPS6KA10.23088818
108MAPK70.22615869
109NLK0.22389990
110IGF1R0.22261198
111MAP3K30.22054971
112TESK10.21856652
113TGFBR20.19994162
114PAK40.19736804
115CAMK1D0.19283469
116GSK3A0.19142144
117TESK20.19105049
118PTK60.18250610
119ICK0.17671604
120DAPK20.16940016
121SIK10.16245360
122ADRBK10.15914269
123MAP3K120.15611594
124RPS6KA50.14892539
125PKN10.14024034
126PRKAA20.13942050
127RPS6KA60.13823961
128SIK20.12783858
129CAMKK20.12025943
130KSR10.11544980
131CDK150.10748115

Predicted pathways (KEGG)

RankGene SetZ-score
1* Graft-versus-host disease_Homo sapiens_hsa053323.94573493
2* Leishmaniasis_Homo sapiens_hsa051403.72786252
3Staphylococcus aureus infection_Homo sapiens_hsa051503.17771893
4* Legionellosis_Homo sapiens_hsa051343.13405149
5* Toll-like receptor signaling pathway_Homo sapiens_hsa046202.98395660
6Allograft rejection_Homo sapiens_hsa053302.90443502
7* NOD-like receptor signaling pathway_Homo sapiens_hsa046212.81413243
8* NF-kappa B signaling pathway_Homo sapiens_hsa040642.73339057
9* Rheumatoid arthritis_Homo sapiens_hsa053232.57849208
10* Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.57497384
11* Pertussis_Homo sapiens_hsa051332.52722610
12* Type I diabetes mellitus_Homo sapiens_hsa049402.50770786
13RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.40621401
14* Tuberculosis_Homo sapiens_hsa051522.38330121
15* Osteoclast differentiation_Homo sapiens_hsa043802.35074052
16Asthma_Homo sapiens_hsa053102.28206815
17* Malaria_Homo sapiens_hsa051442.28090251
18* Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.27725175
19* TNF signaling pathway_Homo sapiens_hsa046682.14652558
20* Salmonella infection_Homo sapiens_hsa051322.10866558
21* Measles_Homo sapiens_hsa051622.05165495
22* African trypanosomiasis_Homo sapiens_hsa051431.83983714
23* Influenza A_Homo sapiens_hsa051641.80490738
24Phagosome_Homo sapiens_hsa041451.72795839
25* Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.54134574
26Toxoplasmosis_Homo sapiens_hsa051451.52174421
27* Hematopoietic cell lineage_Homo sapiens_hsa046401.47575456
28Intestinal immune network for IgA production_Homo sapiens_hsa046721.46468670
29* Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.45897571
30* Herpes simplex infection_Homo sapiens_hsa051681.41281713
31Chemokine signaling pathway_Homo sapiens_hsa040621.37413484
32Bladder cancer_Homo sapiens_hsa052191.33534011
33B cell receptor signaling pathway_Homo sapiens_hsa046621.32075055
34Lysosome_Homo sapiens_hsa041421.26864698
35Shigellosis_Homo sapiens_hsa051311.23323059
36Apoptosis_Homo sapiens_hsa042101.20288837
37Jak-STAT signaling pathway_Homo sapiens_hsa046301.19041710
38Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.18487688
39Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.14930003
40Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.04447705
41* AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.04008678
42Hepatitis C_Homo sapiens_hsa051601.02849128
43Autoimmune thyroid disease_Homo sapiens_hsa053201.02298321
44* Amoebiasis_Homo sapiens_hsa051461.00234998
45Hepatitis B_Homo sapiens_hsa051610.99468472
46Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.89116867
47Antigen processing and presentation_Homo sapiens_hsa046120.88818500
48Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.84028488
49Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.83397673
50* Prion diseases_Homo sapiens_hsa050200.83026604
51Adipocytokine signaling pathway_Homo sapiens_hsa049200.79461654
52T cell receptor signaling pathway_Homo sapiens_hsa046600.75349990
53Viral myocarditis_Homo sapiens_hsa054160.73645582
54Collecting duct acid secretion_Homo sapiens_hsa049660.72199322
55Leukocyte transendothelial migration_Homo sapiens_hsa046700.70374729
56Mineral absorption_Homo sapiens_hsa049780.67760979
57Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.65907020
58Neurotrophin signaling pathway_Homo sapiens_hsa047220.60857365
59Acute myeloid leukemia_Homo sapiens_hsa052210.60225639
60Type II diabetes mellitus_Homo sapiens_hsa049300.58598164
61Steroid biosynthesis_Homo sapiens_hsa001000.53365239
62Complement and coagulation cascades_Homo sapiens_hsa046100.52722705
63Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.50206252
64Epstein-Barr virus infection_Homo sapiens_hsa051690.49452617
65HIF-1 signaling pathway_Homo sapiens_hsa040660.48795513
66Other glycan degradation_Homo sapiens_hsa005110.48539337
67Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.48090032
68SNARE interactions in vesicular transport_Homo sapiens_hsa041300.47093586
69Prolactin signaling pathway_Homo sapiens_hsa049170.46530616
70Primary immunodeficiency_Homo sapiens_hsa053400.44886158
71Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.41592737
72Platelet activation_Homo sapiens_hsa046110.40280204
73Glycosaminoglycan degradation_Homo sapiens_hsa005310.39521499
74Sphingolipid signaling pathway_Homo sapiens_hsa040710.39410739
75Pancreatic cancer_Homo sapiens_hsa052120.38912696
76Chronic myeloid leukemia_Homo sapiens_hsa052200.38416738
77Dorso-ventral axis formation_Homo sapiens_hsa043200.34458379
78Insulin resistance_Homo sapiens_hsa049310.33408068
79PPAR signaling pathway_Homo sapiens_hsa033200.33002953
80Fatty acid biosynthesis_Homo sapiens_hsa000610.31620929
81Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.31540428
82Sulfur metabolism_Homo sapiens_hsa009200.31208673
83VEGF signaling pathway_Homo sapiens_hsa043700.30339987
84Small cell lung cancer_Homo sapiens_hsa052220.23112382
85Proteoglycans in cancer_Homo sapiens_hsa052050.19884020
86Vibrio cholerae infection_Homo sapiens_hsa051100.19470019
87Phospholipase D signaling pathway_Homo sapiens_hsa040720.18733050
88Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.18538214
89Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.18212971
90Viral carcinogenesis_Homo sapiens_hsa052030.17650923
91GnRH signaling pathway_Homo sapiens_hsa049120.17626925
92Transcriptional misregulation in cancer_Homo sapiens_hsa052020.17355896
93* Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.16283692
94* MAPK signaling pathway_Homo sapiens_hsa040100.15177315
95Regulation of actin cytoskeleton_Homo sapiens_hsa048100.15123034
96Proteasome_Homo sapiens_hsa030500.14845079
97Galactose metabolism_Homo sapiens_hsa000520.14677366
98FoxO signaling pathway_Homo sapiens_hsa040680.14235217
99Pentose and glucuronate interconversions_Homo sapiens_hsa000400.12971515
100Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.12390520
101ErbB signaling pathway_Homo sapiens_hsa040120.12067330
102Endocytosis_Homo sapiens_hsa041440.12043044
103HTLV-I infection_Homo sapiens_hsa051660.08838551
104Carbohydrate digestion and absorption_Homo sapiens_hsa049730.07027668
105Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.05438790
106Renal cell carcinoma_Homo sapiens_hsa052110.04460355
107Sphingolipid metabolism_Homo sapiens_hsa006000.02474768
108Notch signaling pathway_Homo sapiens_hsa04330-0.0124397
109mTOR signaling pathway_Homo sapiens_hsa04150-0.0074766

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