IRF5

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 interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative promoter use and alternative splicing result in multiple transcript variants, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1modulation by organism of defense response of other organism involved in symbiotic interaction (GO:06.22514480
2positive regulation by organism of defense response of other organism involved in symbiotic interact6.22514480
3modulation by symbiont of host immune response (GO:0052553)6.22514480
4positive regulation by symbiont of host defense response (GO:0052509)6.22514480
5modulation by symbiont of host defense response (GO:0052031)6.22514480
6modulation by organism of immune response of other organism involved in symbiotic interaction (GO:006.22514480
7regulation of interferon-beta biosynthetic process (GO:0045357)5.44268676
8antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.28136348
9neutrophil activation involved in immune response (GO:0002283)5.00879944
10macrophage activation involved in immune response (GO:0002281)4.86318767
11immunoglobulin mediated immune response (GO:0016064)4.82396912
12antigen processing and presentation of endogenous antigen (GO:0019883)4.79447463
13* positive regulation of interferon-alpha production (GO:0032727)4.60759548
14positive regulation of antigen processing and presentation (GO:0002579)4.59727856
15regulation of B cell receptor signaling pathway (GO:0050855)4.52039954
16microglial cell activation (GO:0001774)4.51793159
17respiratory burst (GO:0045730)4.48021659
18* regulation of interferon-alpha production (GO:0032647)4.38840000
19antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.17439265
20antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.17439265
21positive regulation of gamma-delta T cell activation (GO:0046645)4.16014225
22regulation of dendritic cell antigen processing and presentation (GO:0002604)4.15867536
23detection of other organism (GO:0098543)4.08465952
24response to host immune response (GO:0052572)4.07953488
25response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.07953488
26detection of bacterium (GO:0016045)4.02570738
27* response to peptidoglycan (GO:0032494)4.01039724
28regulation of antigen processing and presentation (GO:0002577)3.89757030
29granulocyte activation (GO:0036230)3.87559637
30neutrophil activation (GO:0042119)3.87452122
31positive regulation of B cell differentiation (GO:0045579)3.80637446
32positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.74684666
33lipopolysaccharide-mediated signaling pathway (GO:0031663)3.72863999
34regulation of gamma-delta T cell activation (GO:0046643)3.72668294
35response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.68950600
36response to host (GO:0075136)3.68950600
37response to host defenses (GO:0052200)3.68950600
38macrophage activation (GO:0042116)3.64991078
39positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.62504916
40myeloid cell activation involved in immune response (GO:0002275)3.57793847
41positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.56599425
42regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.54138058
43regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.53202323
44B cell mediated immunity (GO:0019724)3.52056094
45positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.49572373
46cellular extravasation (GO:0045123)3.49129872
47defense response to protozoan (GO:0042832)3.48501838
48B cell receptor signaling pathway (GO:0050853)3.48475553
49* type I interferon signaling pathway (GO:0060337)3.47688838
50* cellular response to type I interferon (GO:0071357)3.47688838
51* response to type I interferon (GO:0034340)3.45326780
52myeloid dendritic cell differentiation (GO:0043011)3.44878922
53regulation of B cell differentiation (GO:0045577)3.44473390
54detection of external biotic stimulus (GO:0098581)3.44252204
55* interferon-gamma-mediated signaling pathway (GO:0060333)3.41877114
56regulation of interleukin-12 biosynthetic process (GO:0045075)3.40923105
57cellular response to exogenous dsRNA (GO:0071360)3.39143281
58NIK/NF-kappaB signaling (GO:0038061)3.38423160
59myeloid dendritic cell activation (GO:0001773)3.35669706
60natural killer cell mediated immunity (GO:0002228)3.31923117
61natural killer cell mediated cytotoxicity (GO:0042267)3.31923117
62negative regulation of erythrocyte differentiation (GO:0045647)3.28748272
63* positive regulation of interferon-beta production (GO:0032728)3.28333642
64I-kappaB phosphorylation (GO:0007252)3.28141664
65germinal center formation (GO:0002467)3.27504846
66* response to muramyl dipeptide (GO:0032495)3.26526607
67regulation of T-helper 1 cell differentiation (GO:0045625)3.26204064
68detection of molecule of bacterial origin (GO:0032490)3.23427089
69cellular response to interferon-beta (GO:0035458)3.22289803
70positive regulation of chemokine biosynthetic process (GO:0045080)3.19505803
71cellular response to zinc ion (GO:0071294)3.15965760
72negative regulation of cytokine production involved in immune response (GO:0002719)3.14050648
73regulation of mast cell degranulation (GO:0043304)3.13403040
74positive regulation of cellular amide metabolic process (GO:0034250)3.13343291
75positive regulation of toll-like receptor signaling pathway (GO:0034123)3.10541086
76* positive regulation of interleukin-12 production (GO:0032735)3.09676170
77pinocytosis (GO:0006907)3.08301076
78positive regulation of type 2 immune response (GO:0002830)3.07688455
79* cellular response to interferon-gamma (GO:0071346)3.07497696
80negative regulation of T cell mediated immunity (GO:0002710)3.06369672
81negative regulation of interleukin-12 production (GO:0032695)3.05591983
82detection of biotic stimulus (GO:0009595)3.04874465
83CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)3.03719772
84myeloid leukocyte activation (GO:0002274)3.02266233
85response to protozoan (GO:0001562)3.01795726
86regulation of myeloid leukocyte mediated immunity (GO:0002886)2.99556395
87positive regulation of mast cell activation (GO:0033005)2.99480573
88hydrogen peroxide biosynthetic process (GO:0050665)2.99373894
89regulation of leukocyte degranulation (GO:0043300)2.98844152
90positive regulation of mast cell degranulation (GO:0043306)2.97707536
91positive regulation of mast cell activation involved in immune response (GO:0033008)2.97707536
92negative regulation of myeloid cell apoptotic process (GO:0033033)2.96079836
93negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.96079671
94positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.95311559
95superoxide anion generation (GO:0042554)2.94880925
96negative regulation of interleukin-17 production (GO:0032700)2.92855703
97dendritic cell differentiation (GO:0097028)2.91488738
98production of molecular mediator involved in inflammatory response (GO:0002532)2.91298786
99T cell migration (GO:0072678)2.91031796
100regulation of interferon-gamma biosynthetic process (GO:0045072)2.90952332
101leukocyte mediated cytotoxicity (GO:0001909)2.90205776
102regulation of mast cell activation involved in immune response (GO:0033006)2.89720403
103regulation of mast cell activation (GO:0033003)2.88769485
104T-helper 1 type immune response (GO:0042088)2.87413550
105leukocyte aggregation (GO:0070486)2.87169183
106response to interferon-beta (GO:0035456)2.87038146
107adaptive immune response based on somatic recombination of immune receptors built from immunoglobuli2.87015597
108G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.86983158
109lymphocyte mediated immunity (GO:0002449)2.86712610
110monocyte chemotaxis (GO:0002548)2.85400033
111negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.84012715
112negative regulation of cell killing (GO:0031342)2.84012715
113positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)2.83982874
114negative regulation of lymphocyte mediated immunity (GO:0002707)2.83186136
115regulation of interleukin-2 biosynthetic process (GO:0045076)2.82211327
116positive regulation of immunoglobulin mediated immune response (GO:0002891)2.81986811
117positive regulation of B cell mediated immunity (GO:0002714)2.81986811
118* response to interferon-gamma (GO:0034341)2.81767933
119lymphocyte chemotaxis (GO:0048247)2.80768953
120regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.80305379
121regulation of mononuclear cell migration (GO:0071675)2.79895018
122regulation of gamma-delta T cell differentiation (GO:0045586)2.79879263
123positive regulation of interleukin-10 production (GO:0032733)2.79547848
124negative regulation of innate immune response (GO:0045824)2.79225284
125negative regulation of B cell proliferation (GO:0030889)2.79142122
126mature B cell differentiation (GO:0002335)2.78957783
127* regulation of interleukin-12 production (GO:0032655)2.78914028
128negative regulation of leukocyte mediated immunity (GO:0002704)2.77366689
129positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.77335853
130JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.76420152
131Arp2/3 complex-mediated actin nucleation (GO:0034314)2.75035117
132regulation of interleukin-8 biosynthetic process (GO:0045414)2.72370090

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human7.01020248
2* IRF8_21731497_ChIP-ChIP_J774_Mouse6.93380570
3BP1_19119308_ChIP-ChIP_Hs578T_Human5.46892191
4* IRF8_27001747_Chip-Seq_BMDM_Mouse4.72108674
5* IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.38585076
6* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse4.13723052
7FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.82806805
8IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.79692626
9NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.67297057
10* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.48929974
11* SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.24926378
12* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse3.19116673
13STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.09078356
14MYB_21317192_ChIP-Seq_ERMYB_Mouse2.84656711
15STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.80713097
16RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.69783164
17EGR1_19374776_ChIP-ChIP_THP-1_Human2.69293348
18NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.61461447
19STAT4_19710469_ChIP-ChIP_TH1__Mouse2.58647553
20* SPI1_23547873_ChIP-Seq_NB4_Human2.37818168
21* BRD4_27068464_Chip-Seq_AML-cells_Mouse2.25843756
22SCL_19346495_ChIP-Seq_HPC-7_Human2.13918268
23* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.10418775
24* VDR_24763502_ChIP-Seq_THP-1_Human2.01108229
25RUNX_20019798_ChIP-Seq_JUKART_Human1.98481442
26VDR_21846776_ChIP-Seq_THP-1_Human1.97700626
27PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.92514628
28MYB_26560356_Chip-Seq_TH2_Human1.92206609
29* SPI1_23127762_ChIP-Seq_K562_Human1.91497727
30MAF_26560356_Chip-Seq_TH1_Human1.87137681
31RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.87132661
32FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.82429180
33RUNX1_22412390_ChIP-Seq_EML_Mouse1.81119134
34PU_27001747_Chip-Seq_BMDM_Mouse1.75330072
35* CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.69355963
36ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.68451688
37SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.66564396
38MYB_26560356_Chip-Seq_TH1_Human1.64162311
39E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.61190429
40STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.58223445
41* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.57816087
42* VDR_24787735_ChIP-Seq_THP-1_Human1.57374451
43PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.56942416
44* VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.51314288
45MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.49003101
46GATA1_22025678_ChIP-Seq_K562_Human1.46462713
47STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.46300794
48FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.45131697
49THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.40913944
50MYC_22102868_ChIP-Seq_BL_Human1.35944968
51LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.35003724
52CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.32889331
53NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.31898476
54GATA2_22383799_ChIP-Seq_G1ME_Mouse1.28929087
55* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.28561342
56CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.28419998
57UTX_26944678_Chip-Seq_JUKART_Human1.28357635
58GATA3_27048872_Chip-Seq_THYMUS_Human1.26114982
59SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.24460213
60TCF7_22412390_ChIP-Seq_EML_Mouse1.24282253
61* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.23336830
62TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.22571490
63ELF1_17652178_ChIP-ChIP_JURKAT_Human1.20972819
64* GATA3_26560356_Chip-Seq_TH2_Human1.19101031
65* BCOR_27268052_Chip-Seq_Bcells_Human1.15492232
66TP63_17297297_ChIP-ChIP_HaCaT_Human1.14990731
67ELF1_20517297_ChIP-Seq_JURKAT_Human1.13562076
68VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.13068501
69LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.12811670
70* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.10576962
71GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.07800236
72GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.07263389
73MAF_26560356_Chip-Seq_TH2_Human1.05924126
74GATA2_21666600_ChIP-Seq_HMVEC_Human1.05599688
75GATA1_22383799_ChIP-Seq_G1ME_Mouse0.99762154
76ELK3_25401928_ChIP-Seq_HUVEC_Human0.99353818
77* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.96718909
78NCOR1_26117541_ChIP-Seq_K562_Human0.96475652
79STAT1_20625510_ChIP-Seq_HELA_Human0.96332000
80STAT6_21828071_ChIP-Seq_BEAS2B_Human0.96145820
81CIITA_25753668_ChIP-Seq_RAJI_Human0.94801303
82GATA1_19941827_ChIP-Seq_MEL_Mouse0.91819738
83* KDM2B_26808549_Chip-Seq_SUP-B15_Human0.91034866
84TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.90264433
85CTCF_27219007_Chip-Seq_ERYTHROID_Human0.87468253
86EGR1_19032775_ChIP-ChIP_M12_Human0.87358488
87* IKZF1_21737484_ChIP-ChIP_HCT116_Human0.86906115
88NOTCH1_21737748_ChIP-Seq_TLL_Human0.86000530
89RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85973423
90TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.84643475
91KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.83627025
92SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.82941957
93CTCF_26484167_Chip-Seq_Bcells_Mouse0.82508353
94KDM2B_26808549_Chip-Seq_DND41_Human0.81814109
95PU.1_20513432_ChIP-Seq_Bcells_Mouse0.79807337
96SPI1_20517297_ChIP-Seq_HL60_Human0.78957385
97CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.77619004
98TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.77280029
99KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.74491121
100SMAD_19615063_ChIP-ChIP_OVARY_Human0.74443974
101SMRT_27268052_Chip-Seq_Bcells_Human0.74206121
102SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.73420842
103TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.70938030
104TFEB_21752829_ChIP-Seq_HELA_Human0.70038147
105GATA2_19941826_ChIP-Seq_K562_Human0.69599164
106EGR1_23403033_ChIP-Seq_LIVER_Mouse0.68026608
107P63_26484246_Chip-Seq_KERATINOCYTES_Human0.65541187
108GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.64624006
109GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.62994533
110CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.62807998
111GATA1_19941826_ChIP-Seq_K562_Human0.62613097
112LXR_22292898_ChIP-Seq_THP-1_Human0.60291466
113ERG_20887958_ChIP-Seq_HPC-7_Mouse0.59190521
114BCL6_27268052_Chip-Seq_Bcells_Human0.58255281
115PPARA_22158963_ChIP-Seq_LIVER_Mouse0.57117202

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation5.26077309
2MP0003303_peritoneal_inflammation3.70110976
3MP0003436_decreased_susceptibility_to3.60761130
4MP0005387_immune_system_phenotype3.31066107
5MP0001790_abnormal_immune_system3.31066107
6MP0006082_CNS_inflammation3.28780554
7MP0009785_altered_susceptibility_to3.27794269
8MP0002148_abnormal_hypersensitivity_rea3.25024731
9MP0005000_abnormal_immune_tolerance3.22119393
10MP0002419_abnormal_innate_immunity3.09462368
11MP0001800_abnormal_humoral_immune3.06511970
12MP0005671_abnormal_response_to3.05595209
13MP0000685_abnormal_immune_system3.04388578
14MP0002452_abnormal_antigen_presenting2.96426334
15MP0005058_abnormal_lysosome_morphology2.89714990
16MP0004510_myositis2.84643675
17* MP0005025_abnormal_response_to2.83327663
18* MP0002723_abnormal_immune_serum2.66645967
19* MP0001819_abnormal_immune_cell2.42772818
20* MP0002420_abnormal_adaptive_immunity2.40209718
21MP0005464_abnormal_platelet_physiology2.21017997
22MP0003724_increased_susceptibility_to2.12365963
23MP0003172_abnormal_lysosome_physiology2.03931151
24MP0001853_heart_inflammation2.02427282
25MP0003191_abnormal_cellular_cholesterol1.98319274
26MP0002405_respiratory_system_inflammati1.95713726
27MP0004947_skin_inflammation1.90738887
28MP0001533_abnormal_skeleton_physiology1.87871575
29MP0001845_abnormal_inflammatory_respons1.87567461
30MP0009840_abnormal_foam_cell1.86913357
31MP0000716_abnormal_immune_system1.82401176
32MP0002398_abnormal_bone_marrow1.74116780
33MP0005310_abnormal_salivary_gland1.70720727
34MP0010155_abnormal_intestine_physiology1.65400016
35* MP0008469_abnormal_protein_level1.61987967
36MP0003300_gastrointestinal_ulcer1.60987440
37MP0000689_abnormal_spleen_morphology1.60482269
38MP0009333_abnormal_splenocyte_physiolog1.54906214
39MP0009278_abnormal_bone_marrow1.50350599
40MP0009764_decreased_sensitivity_to1.50004942
41MP0002166_altered_tumor_susceptibility1.48428251
42MP0002429_abnormal_blood_cell1.46294377
43MP0003448_altered_tumor_morphology1.44737102
44MP0002139_abnormal_hepatobiliary_system1.44148911
45MP0002006_tumorigenesis1.41827486
46MP0003075_altered_response_to1.40163024
47MP0002722_abnormal_immune_system1.39772333
48MP0003806_abnormal_nucleotide_metabolis1.38548875
49MP0002138_abnormal_hepatobiliary_system1.37561591
50MP0000343_altered_response_to1.35747957
51MP0003183_abnormal_peptide_metabolism1.28600166
52MP0000569_abnormal_digit_pigmentation1.26386880
53MP0002254_reproductive_system_inflammat1.26343045
54MP0002998_abnormal_bone_remodeling1.19482070
55MP0001545_abnormal_hematopoietic_system1.19398847
56MP0005397_hematopoietic_system_phenotyp1.19398847
57MP0005174_abnormal_tail_pigmentation1.17960870
58MP0003690_abnormal_glial_cell1.16777231
59MP0001873_stomach_inflammation1.16067341
60MP0000604_amyloidosis1.15418716
61MP0005166_decreased_susceptibility_to1.07683870
62MP0002933_joint_inflammation1.07329740
63MP0000858_altered_metastatic_potential1.03671321
64MP0001851_eye_inflammation1.01796935
65MP0003763_abnormal_thymus_physiology0.99823160
66MP0002277_abnormal_respiratory_mucosa0.97351615
67MP0000465_gastrointestinal_hemorrhage0.93665077
68MP0008004_abnormal_stomach_pH0.92410387
69MP0009763_increased_sensitivity_to0.91767104
70MP0003828_pulmonary_edema0.90893509
71MP0003566_abnormal_cell_adhesion0.88030047
72MP0002396_abnormal_hematopoietic_system0.86766072
73MP0010307_abnormal_tumor_latency0.85231171
74MP0005390_skeleton_phenotype0.84706194
75MP0005076_abnormal_cell_differentiation0.83784855
76MP0004808_abnormal_hematopoietic_stem0.80345520
77MP0000249_abnormal_blood_vessel0.80225310
78MP0000371_diluted_coat_color0.79093985
79MP0003453_abnormal_keratinocyte_physiol0.78300170
80MP0000015_abnormal_ear_pigmentation0.74607330
81MP0002136_abnormal_kidney_physiology0.74496952
82MP0004782_abnormal_surfactant_physiolog0.74324795
83MP0005451_abnormal_body_composition0.73854209
84MP0000703_abnormal_thymus_morphology0.73007439
85MP0008874_decreased_physiological_sensi0.72380330
86MP0005164_abnormal_response_to0.70925059
87MP0005167_abnormal_blood-brain_barrier0.70669948
88MP0009765_abnormal_xenobiotic_induced0.69500096
89MP0003866_abnormal_defecation0.69454534
90MP0002132_abnormal_respiratory_system0.68800191
91MP0000490_abnormal_crypts_of0.66566409
92MP0003091_abnormal_cell_migration0.66272000
93MP0000767_abnormal_smooth_muscle0.62427426
94MP0002332_abnormal_exercise_endurance0.60951922
95MP0005165_increased_susceptibility_to0.60656698
96MP0008260_abnormal_autophagy0.59448127
97MP0003656_abnormal_erythrocyte_physiolo0.59176662
98MP0001663_abnormal_digestive_system0.58950693
99MP0003795_abnormal_bone_structure0.58830096
100MP0002693_abnormal_pancreas_physiology0.58045994
101MP0000609_abnormal_liver_physiology0.57447992
102MP0000920_abnormal_myelination0.57380206
103MP0002019_abnormal_tumor_incidence0.56738470
104MP0005257_abnormal_intraocular_pressure0.56139282
105MP0003186_abnormal_redox_activity0.55384375
106MP0010352_gastrointestinal_tract_polyps0.53562655
107MP0004883_abnormal_blood_vessel0.52641080
108MP0005319_abnormal_enzyme/_coenzyme0.51251944
109MP0008873_increased_physiological_sensi0.50660064
110MP0005584_abnormal_enzyme/coenzyme_acti0.49629624
111MP0005535_abnormal_body_temperature0.49506894
112MP0003045_fibrosis0.48787362
113MP0002090_abnormal_vision0.47857818
114MP0005023_abnormal_wound_healing0.47703490

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)6.94437679
2Recurrent bacterial skin infections (HP:0005406)6.36916136
3Eczematoid dermatitis (HP:0000976)6.11044884
4Systemic lupus erythematosus (HP:0002725)5.26998751
5Recurrent gram-negative bacterial infections (HP:0005420)5.25971648
6Abnormality of macrophages (HP:0004311)4.56400517
7Mediastinal lymphadenopathy (HP:0100721)4.40567065
8Increased cerebral lipofuscin (HP:0011813)4.38885380
9Vacuolated lymphocytes (HP:0001922)4.26940422
10Elevated erythrocyte sedimentation rate (HP:0003565)4.26545038
11Recurrent skin infections (HP:0001581)4.22593683
12Myositis (HP:0100614)4.16698767
13Increased neuronal autofluorescent lipopigment (HP:0002074)4.00053483
14Abnormality of glycolipid metabolism (HP:0010969)3.92350200
15Abnormality of liposaccharide metabolism (HP:0010968)3.92350200
16Abnormality of glycosphingolipid metabolism (HP:0004343)3.92350200
17Obstructive lung disease (HP:0006536)3.91522379
18Chronic obstructive pulmonary disease (HP:0006510)3.91522379
19Recurrent fungal infections (HP:0002841)3.85773160
20Orchitis (HP:0100796)3.83844329
21Glomerulonephritis (HP:0000099)3.83818786
22Vasculitis (HP:0002633)3.75550629
23Recurrent viral infections (HP:0004429)3.73821240
24Retrobulbar optic neuritis (HP:0100654)3.67636240
25Optic neuritis (HP:0100653)3.67636240
26Cellulitis (HP:0100658)3.63685748
27Colitis (HP:0002583)3.49278761
28Gingivitis (HP:0000230)3.48026287
29Chronic otitis media (HP:0000389)3.39718687
30Meningitis (HP:0001287)3.37957667
31Autoimmune thrombocytopenia (HP:0001973)3.34881728
32Recurrent cutaneous fungal infections (HP:0011370)3.23880654
33Chronic mucocutaneous candidiasis (HP:0002728)3.23880654
34Agammaglobulinemia (HP:0004432)3.21563794
35Dysostosis multiplex (HP:0000943)3.17683306
36Stomatitis (HP:0010280)3.05991746
37Inflammation of the large intestine (HP:0002037)3.02523265
38Pustule (HP:0200039)3.01042232
39Disinhibition (HP:0000734)2.94897354
40Axonal loss (HP:0003447)2.91711413
41Loss of speech (HP:0002371)2.89642880
42Abnormality of complement system (HP:0005339)2.86898789
43Recurrent pneumonia (HP:0006532)2.86575530
44Basal ganglia calcification (HP:0002135)2.85163587
45Gastrointestinal stroma tumor (HP:0100723)2.82437118
46Interstitial pulmonary disease (HP:0006530)2.81231583
47Gastrointestinal inflammation (HP:0004386)2.80987035
48Osteomyelitis (HP:0002754)2.79813867
49Nephritis (HP:0000123)2.73385283
50Hematochezia (HP:0002573)2.72977810
51Periodontitis (HP:0000704)2.69940864
52Purpura (HP:0000979)2.69918587
53Myocardial infarction (HP:0001658)2.68177361
54Urticaria (HP:0001025)2.65996069
55Recurrent bronchitis (HP:0002837)2.63904103
56Recurrent lower respiratory tract infections (HP:0002783)2.60669721
57Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.58489308
58Increased serum ferritin (HP:0003281)2.53029916
59Arterial thrombosis (HP:0004420)2.52988650
60Abnormal delayed hypersensitivity skin test (HP:0002963)2.52547719
61Mutism (HP:0002300)2.52481399
62Complement deficiency (HP:0004431)2.51182098
63Prostate neoplasm (HP:0100787)2.49714094
64Emphysema (HP:0002097)2.46911444
65Mucopolysacchariduria (HP:0008155)2.46574210
66Urinary glycosaminoglycan excretion (HP:0003541)2.46574210
67Thick nail (HP:0001805)2.45214831
68IgM deficiency (HP:0002850)2.44253912
69Spontaneous hematomas (HP:0007420)2.43737289
70Leukocytosis (HP:0001974)2.40828245
71Chest pain (HP:0100749)2.40706172
72Nasal polyposis (HP:0100582)2.40441178
73Increased IgM level (HP:0003496)2.39815376
74* Pulmonary infiltrates (HP:0002113)2.39228231
75Hepatosplenomegaly (HP:0001433)2.37483347
76Hemoptysis (HP:0002105)2.35877921
77Abnormality of polysaccharide metabolism (HP:0011012)2.35497520
78Abnormality of glycosaminoglycan metabolism (HP:0004371)2.35497520
79Abnormality of mucopolysaccharide metabolism (HP:0011020)2.35497520
80Gastrointestinal infarctions (HP:0005244)2.31065072
81Agnosia (HP:0010524)2.28289502
82Autoimmune hemolytic anemia (HP:0001890)2.27800347
83Keratoconjunctivitis sicca (HP:0001097)2.26644614
84Gangrene (HP:0100758)2.24801101
85Epistaxis (HP:0000421)2.24460159
86T lymphocytopenia (HP:0005403)2.24292390
87Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.23379430
88Abnormality of the pleura (HP:0002103)2.22527504
89Hypergammaglobulinemia (HP:0010702)2.22117699
90Panhypogammaglobulinemia (HP:0003139)2.21445656
91IgA deficiency (HP:0002720)2.20487673
92Abnormality of T cells (HP:0002843)2.20416139
93Prolonged bleeding time (HP:0003010)2.20174875
94Increased IgE level (HP:0003212)2.19579726
95Gingival bleeding (HP:0000225)2.18711941
96Abnormality of T cell number (HP:0011839)2.18455858
97Polyneuropathy (HP:0001271)2.17068116
98Keratoconjunctivitis (HP:0001096)2.15692377
99Abnormality of the nasal mucosa (HP:0000433)2.15301871
100Abnormality of iron homeostasis (HP:0011031)2.13696968
101Lymphopenia (HP:0001888)2.13029062
102Amyloidosis (HP:0011034)2.12783269
103Recurrent sinusitis (HP:0011108)2.12305055
104Petechiae (HP:0000967)2.11764287
105Abnormality of the prostate (HP:0008775)2.11390339
106Pulmonary embolism (HP:0002204)2.10936374
107Sepsis (HP:0100806)2.09439918
108Abnormality of cells of the lymphoid lineage (HP:0012140)2.09323755
109Restrictive lung disease (HP:0002091)2.09316084
110Neuronal loss in central nervous system (HP:0002529)2.08500307
111Premature loss of primary teeth (HP:0006323)2.06454227
112Granulocytopenia (HP:0001913)2.05432485
113Abnormality of B cell number (HP:0010975)2.04090985
114Chronic sinusitis (HP:0011109)2.04061472
115Progressive neurologic deterioration (HP:0002344)2.03730741
116Encephalitis (HP:0002383)2.02113660
117Eosinophilia (HP:0001880)2.01885266
118Joint hemorrhage (HP:0005261)1.99428314
119* Skin ulcer (HP:0200042)1.94888762
120Osteolytic defects of the phalanges of the hand (HP:0009771)1.93896331
121Osteolytic defects of the hand bones (HP:0009699)1.93896331
122Chronic diarrhea (HP:0002028)1.93838962
123Abnormality of T cell physiology (HP:0011840)1.92723794

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K14.07786425
2MAP3K143.97568689
3RIPK43.85496280
4BLK3.66170394
5TYK23.47891295
6IRAK33.26371948
7IRAK43.05404201
8PRPF4B2.92888951
9* TBK12.74562552
10IKBKE2.51192656
11KIT2.50899499
12CSF1R2.50092155
13ERN12.42834310
14* IKBKB2.25929973
15TGFBR22.24076095
16JAK32.13584874
17JAK12.05068584
18MAP3K132.02231398
19SYK1.84478757
20CSK1.64656381
21BTK1.58343147
22EPHB11.52819731
23TXK1.51420371
24ZAP701.49612522
25PIM21.47503922
26PBK1.46830295
27STK101.46469668
28TNK21.45409359
29CHUK1.44987407
30HCK1.44868884
31TAOK11.43973647
32FES1.42717969
33LYN1.38997721
34TESK21.37123326
35MAP2K31.27500606
36NEK91.26017492
37TAOK31.23236346
38RPS6KA41.22072439
39LCK1.21250467
40FGR1.16950030
41TEC1.12224599
42CDC42BPA1.10113542
43PIM11.08136045
44MATK1.07365763
45MARK31.05440203
46JAK21.05294517
47NME20.99866095
48GRK70.99161196
49SMG10.98476411
50DDR20.97356166
51CLK10.96554801
52BMPR20.94011528
53MAP3K100.93819418
54MAP3K110.86124681
55GRK60.82341547
56MST40.82295431
57FGFR40.81778197
58SIK20.81270167
59LRRK20.80648129
60IRAK20.78087817
61ITK0.74302581
62FGFR30.68928120
63MAP3K50.67148176
64STK40.65581989
65ABL10.64611015
66EGFR0.63775765
67PRKCD0.63647967
68EIF2AK20.63588740
69BMX0.63254679
70MAP3K30.61997863
71SIK30.60194959
72MAPK70.58314873
73PRKD20.57710933
74PTK60.57063157
75ABL20.56448095
76PRKCQ0.55625000
77PDPK10.55440753
78MAP2K60.54524805
79CAMK1D0.54457455
80CDK40.54086143
81IRAK10.53749890
82HIPK20.52952073
83MOS0.52519368
84TRPM70.50221251
85MAPKAPK20.48932535
86EPHA30.47496077
87YES10.47164096
88ARAF0.46810247
89MARK20.43009255
90MAPK110.42357975
91PAK40.41838933
92PIK3CG0.41656464
93RPS6KA60.41655949
94FLT30.39758143
95SIK10.39613310
96NUAK10.39003984
97PDK10.38791707
98BCKDK0.38655464
99DAPK20.37257989
100PKN10.36868080
101STK240.36598109
102NLK0.36378427
103TAOK20.35034835
104SCYL20.34805931
105TTN0.32142662
106CAMKK20.31618170
107FYN0.30849836
108MAP3K80.30759230
109CDK60.30598845
110KDR0.29641543
111MAPK40.29492749
112RPS6KA20.28463900
113DYRK1B0.27649504
114RIPK10.27108033
115STK30.26775754
116ADRBK20.26666152
117RPS6KA50.26388089
118ACVR1B0.26299949
119TRIB30.26214880
120IGF1R0.25640025
121RPS6KC10.25104879
122RPS6KL10.25104879
123MAPK120.25036661
124MAP3K10.24806704
125INSR0.23906246
126KSR20.22613115

Predicted pathways (KEGG)

RankGene SetZ-score
1Staphylococcus aureus infection_Homo sapiens_hsa051503.51857922
2Leishmaniasis_Homo sapiens_hsa051403.41613857
3Osteoclast differentiation_Homo sapiens_hsa043802.75748315
4* Toll-like receptor signaling pathway_Homo sapiens_hsa046202.73552068
5NF-kappa B signaling pathway_Homo sapiens_hsa040642.73429220
6B cell receptor signaling pathway_Homo sapiens_hsa046622.66116753
7Pertussis_Homo sapiens_hsa051332.40179536
8Legionellosis_Homo sapiens_hsa051342.26337740
9Tuberculosis_Homo sapiens_hsa051522.21311293
10Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.19394906
11Intestinal immune network for IgA production_Homo sapiens_hsa046722.17559450
12Lysosome_Homo sapiens_hsa041422.16765039
13Allograft rejection_Homo sapiens_hsa053302.15816587
14NOD-like receptor signaling pathway_Homo sapiens_hsa046212.14198368
15Other glycan degradation_Homo sapiens_hsa005112.11678574
16Graft-versus-host disease_Homo sapiens_hsa053322.10897370
17Glycosaminoglycan degradation_Homo sapiens_hsa005312.10243411
18Measles_Homo sapiens_hsa051622.07401431
19RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.05788346
20Malaria_Homo sapiens_hsa051442.04461064
21Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.02348376
22Primary immunodeficiency_Homo sapiens_hsa053401.98079296
23Antigen processing and presentation_Homo sapiens_hsa046121.93743920
24Influenza A_Homo sapiens_hsa051641.80315809
25TNF signaling pathway_Homo sapiens_hsa046681.71340093
26Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.70379204
27Toxoplasmosis_Homo sapiens_hsa051451.69892196
28Hematopoietic cell lineage_Homo sapiens_hsa046401.65886498
29Rheumatoid arthritis_Homo sapiens_hsa053231.65535710
30Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.60874144
31Herpes simplex infection_Homo sapiens_hsa051681.57133791
32Chemokine signaling pathway_Homo sapiens_hsa040621.51707308
33Salmonella infection_Homo sapiens_hsa051321.50220984
34Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.48409696
35Asthma_Homo sapiens_hsa053101.48132713
36Apoptosis_Homo sapiens_hsa042101.47801450
37Phagosome_Homo sapiens_hsa041451.42230451
38Shigellosis_Homo sapiens_hsa051311.37595482
39Jak-STAT signaling pathway_Homo sapiens_hsa046301.36052860
40Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.33984224
41African trypanosomiasis_Homo sapiens_hsa051431.30534334
42Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.22828043
43Hepatitis B_Homo sapiens_hsa051611.12958730
44Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.12249253
45Complement and coagulation cascades_Homo sapiens_hsa046101.09235627
46Hepatitis C_Homo sapiens_hsa051601.06404717
47Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.05114583
48Leukocyte transendothelial migration_Homo sapiens_hsa046701.02215699
49Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.01030193
50Autoimmune thyroid disease_Homo sapiens_hsa053201.00935847
51Viral myocarditis_Homo sapiens_hsa054161.00303642
52T cell receptor signaling pathway_Homo sapiens_hsa046600.98430206
53Type I diabetes mellitus_Homo sapiens_hsa049400.98143182
54Acute myeloid leukemia_Homo sapiens_hsa052210.89699833
55AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.88195798
56Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.86481688
57Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.77806568
58Epstein-Barr virus infection_Homo sapiens_hsa051690.77430876
59Platelet activation_Homo sapiens_hsa046110.72294693
60Pancreatic cancer_Homo sapiens_hsa052120.71879231
61Chronic myeloid leukemia_Homo sapiens_hsa052200.71752069
62Amoebiasis_Homo sapiens_hsa051460.69865508
63Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.66521446
64Prion diseases_Homo sapiens_hsa050200.65387581
65Neurotrophin signaling pathway_Homo sapiens_hsa047220.64159918
66Prolactin signaling pathway_Homo sapiens_hsa049170.57955428
67Transcriptional misregulation in cancer_Homo sapiens_hsa052020.56409237
68Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.51193418
69Caffeine metabolism_Homo sapiens_hsa002320.51060589
70Adipocytokine signaling pathway_Homo sapiens_hsa049200.47181735
71Sphingolipid signaling pathway_Homo sapiens_hsa040710.47009759
72Bladder cancer_Homo sapiens_hsa052190.46190559
73Viral carcinogenesis_Homo sapiens_hsa052030.44720677
74Endocytosis_Homo sapiens_hsa041440.38531874
75Small cell lung cancer_Homo sapiens_hsa052220.37182260
76Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.35931693
77HIF-1 signaling pathway_Homo sapiens_hsa040660.34637785
78Pentose and glucuronate interconversions_Homo sapiens_hsa000400.34485328
79VEGF signaling pathway_Homo sapiens_hsa043700.33863322
80Regulation of actin cytoskeleton_Homo sapiens_hsa048100.32962033
81Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.30663733
82HTLV-I infection_Homo sapiens_hsa051660.29535608
83SNARE interactions in vesicular transport_Homo sapiens_hsa041300.29475610
84Sphingolipid metabolism_Homo sapiens_hsa006000.29348447
85Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.29235593
86Notch signaling pathway_Homo sapiens_hsa043300.29016466
87ABC transporters_Homo sapiens_hsa020100.24486720
88Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.24184213
89Systemic lupus erythematosus_Homo sapiens_hsa053220.23012960
90Renal cell carcinoma_Homo sapiens_hsa052110.20645146
91Insulin resistance_Homo sapiens_hsa049310.20020632
92MAPK signaling pathway_Homo sapiens_hsa040100.18880559
93Non-small cell lung cancer_Homo sapiens_hsa052230.17530080
94Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.17513109
95GnRH signaling pathway_Homo sapiens_hsa049120.17446240
96Phospholipase D signaling pathway_Homo sapiens_hsa040720.17283802
97Proteoglycans in cancer_Homo sapiens_hsa052050.16874525
98Galactose metabolism_Homo sapiens_hsa000520.15884746
99Fructose and mannose metabolism_Homo sapiens_hsa000510.14923388
100Collecting duct acid secretion_Homo sapiens_hsa049660.14882914
101Type II diabetes mellitus_Homo sapiens_hsa049300.14655192
102FoxO signaling pathway_Homo sapiens_hsa040680.13682088
103mTOR signaling pathway_Homo sapiens_hsa041500.13389574
104Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.13086563
105Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.10660075
106Inositol phosphate metabolism_Homo sapiens_hsa005620.10516437
107Carbohydrate digestion and absorption_Homo sapiens_hsa049730.10023653
108Mineral absorption_Homo sapiens_hsa049780.09772170
109Pentose phosphate pathway_Homo sapiens_hsa000300.09710584
110MicroRNAs in cancer_Homo sapiens_hsa052060.07713928
111Renin-angiotensin system_Homo sapiens_hsa046140.04511744

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