IFIH1

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: DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that is upregulated in response to treatment with beta-interferon and a protein kinase C-activating compound, mezerein. Irreversible reprogramming of melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves reversible differentiation. Genetic variation in this gene is associated with diabetes mellitus insulin-dependent type 19. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.39205099
2type I interferon signaling pathway (GO:0060337)5.04940782
3cellular response to type I interferon (GO:0071357)5.04940782
4response to type I interferon (GO:0034340)5.02371530
5* positive regulation of interferon-alpha production (GO:0032727)4.95565161
6positive regulation by symbiont of host defense response (GO:0052509)4.85886475
7modulation by symbiont of host defense response (GO:0052031)4.85886475
8modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.85886475
9modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.85886475
10positive regulation by organism of defense response of other organism involved in symbiotic interact4.85886475
11modulation by symbiont of host immune response (GO:0052553)4.85886475
12response to peptidoglycan (GO:0032494)4.73286386
13* regulation of interferon-alpha production (GO:0032647)4.64856989
14response to interferon-alpha (GO:0035455)4.51340713
15negative regulation of interleukin-12 production (GO:0032695)4.50209804
16regulation of T-helper 1 cell differentiation (GO:0045625)4.48921252
17negative regulation of viral genome replication (GO:0045071)4.46848951
18regulation of RIG-I signaling pathway (GO:0039535)4.44201172
19neutrophil activation involved in immune response (GO:0002283)4.31737088
20antigen processing and presentation of endogenous antigen (GO:0019883)4.25033497
21antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.20958649
22antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.20958649
23positive regulation of natural killer cell differentiation (GO:0032825)4.15713343
24cellular response to exogenous dsRNA (GO:0071360)4.06325557
25regulation of vitamin D biosynthetic process (GO:0060556)4.06202121
26lipopolysaccharide-mediated signaling pathway (GO:0031663)3.98172152
27cellular response to interferon-alpha (GO:0035457)3.91739548
28negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.83130828
29negative regulation of cell killing (GO:0031342)3.83130828
30immunoglobulin mediated immune response (GO:0016064)3.81990737
31cellular response to interferon-beta (GO:0035458)3.81266255
32positive regulation of type 2 immune response (GO:0002830)3.80598749
33positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.68447735
34regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)3.66073304
35positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.64921578
36T-helper 1 type immune response (GO:0042088)3.62185294
37response to host immune response (GO:0052572)3.61092138
38response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.61092138
39regulation of activation of Janus kinase activity (GO:0010533)3.60909297
40positive regulation of interleukin-12 production (GO:0032735)3.56385565
41regulation of chronic inflammatory response (GO:0002676)3.55963825
42interferon-gamma-mediated signaling pathway (GO:0060333)3.53468065
43hydrogen peroxide biosynthetic process (GO:0050665)3.53320451
44macrophage activation involved in immune response (GO:0002281)3.53202894
45response to muramyl dipeptide (GO:0032495)3.51704790
46response to interferon-beta (GO:0035456)3.49861660
47* positive regulation of interferon-beta production (GO:0032728)3.49643886
48positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.45945568
49positive regulation of gamma-delta T cell activation (GO:0046645)3.43505637
50detection of other organism (GO:0098543)3.38709691
51natural killer cell mediated immunity (GO:0002228)3.38213738
52natural killer cell mediated cytotoxicity (GO:0042267)3.38213738
53positive regulation of chemokine biosynthetic process (GO:0045080)3.38202237
54granulocyte activation (GO:0036230)3.37988993
55germinal center formation (GO:0002467)3.37766775
56positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)3.36599768
57regulation of interferon-beta biosynthetic process (GO:0045357)3.35465662
58negative regulation of T cell mediated immunity (GO:0002710)3.34482795
59regulation of interleukin-12 biosynthetic process (GO:0045075)3.33401075
60response to protozoan (GO:0001562)3.33398940
61negative regulation of cytokine production involved in immune response (GO:0002719)3.32932418
62positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.32800458
63regulation of vitamin metabolic process (GO:0030656)3.30512641
64positive regulation of defense response to virus by host (GO:0002230)3.23263674
65regulation of cytokine secretion involved in immune response (GO:0002739)3.22343927
66detection of bacterium (GO:0016045)3.22257879
67positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.21412652
68regulation of type 2 immune response (GO:0002828)3.21227976
69response to interferon-gamma (GO:0034341)3.20903488
70positive regulation of cellular amide metabolic process (GO:0034250)3.20062454
71neutrophil activation (GO:0042119)3.20048652
72positive regulation of T cell cytokine production (GO:0002726)3.19819389
73response to host (GO:0075136)3.19339173
74response to host defenses (GO:0052200)3.19339173
75response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.19339173
76negative regulation of myeloid cell apoptotic process (GO:0033033)3.19220209
77positive regulation of response to biotic stimulus (GO:0002833)3.17503106
78detection of molecule of bacterial origin (GO:0032490)3.17066712
79myeloid dendritic cell differentiation (GO:0043011)3.16626559
80regulation of syncytium formation by plasma membrane fusion (GO:0060142)3.15054238
81reactive oxygen species biosynthetic process (GO:1903409)3.13390606
82positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.10622035
83regulation of immunoglobulin secretion (GO:0051023)3.10036618
84defense response to protozoan (GO:0042832)3.09448666
85positive regulation of heat generation (GO:0031652)3.09295627
86production of molecular mediator involved in inflammatory response (GO:0002532)3.09149477
87regulation of gamma-delta T cell activation (GO:0046643)3.09025951
88regulation of chemokine biosynthetic process (GO:0045073)3.08716772
89respiratory burst (GO:0045730)3.07581175
90defense response to virus (GO:0051607)3.07424900
91regulation of viral genome replication (GO:0045069)3.06864600
92T cell migration (GO:0072678)3.06750652
93negative regulation of interleukin-17 production (GO:0032700)3.06535732
94positive regulation of interleukin-17 production (GO:0032740)3.06333642
95positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.04881891
96detection of external biotic stimulus (GO:0098581)3.04630876
97regulation of antigen processing and presentation (GO:0002577)3.03452133
98regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.99112029
99regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)2.99031796
100regulation of podosome assembly (GO:0071801)2.98854391
101positive regulation of antigen processing and presentation (GO:0002579)2.98580690
102NIK/NF-kappaB signaling (GO:0038061)2.97976181
103interferon-gamma secretion (GO:0072643)2.97401528
104negative regulation of viral process (GO:0048525)2.96695224
105regulation of fever generation (GO:0031620)2.96084922
106positive regulation of T-helper cell differentiation (GO:0045624)2.96038504
107lymphocyte chemotaxis (GO:0048247)2.95815271
108microglial cell activation (GO:0001774)2.95417704
109regulation of T-helper cell differentiation (GO:0045622)2.94582547
110regulation of dendritic cell antigen processing and presentation (GO:0002604)2.93524665
111myeloid dendritic cell activation (GO:0001773)2.91589187
112positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)2.90825368
113regulation of interleukin-17 production (GO:0032660)2.90455120
114regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)2.90194195
115positive regulation of alpha-beta T cell proliferation (GO:0046641)2.89881312
116positive regulation of toll-like receptor signaling pathway (GO:0034123)2.89638895
117regulation of interleukin-12 production (GO:0032655)2.89621973
118positive regulation of humoral immune response (GO:0002922)2.89404948
119regulation of mononuclear cell migration (GO:0071675)2.89345079
120regulation of alpha-beta T cell proliferation (GO:0046640)2.87537137
121cellular response to interferon-gamma (GO:0071346)2.87123216
122regulation of response to interferon-gamma (GO:0060330)2.86661667
123regulation of B cell receptor signaling pathway (GO:0050855)2.86066525
124superoxide anion generation (GO:0042554)2.85941743
125regulation of interferon-gamma biosynthetic process (GO:0045072)2.85624361
126regulation of T cell tolerance induction (GO:0002664)2.84770263
127negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.84104959
128JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.83832827
129B cell mediated immunity (GO:0019724)2.82709438
130eosinophil chemotaxis (GO:0048245)2.82203709
131regulation of natural killer cell differentiation (GO:0032823)2.81501968
132regulation of type I interferon-mediated signaling pathway (GO:0060338)2.81368371
133positive regulation of NF-kappaB import into nucleus (GO:0042346)2.81077813
134negative regulation of lipid storage (GO:0010888)2.79662319
135response to exogenous dsRNA (GO:0043330)2.79595127

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* IRF8_22096565_ChIP-ChIP_GC-B_Human7.95159275
2* IRF8_21731497_ChIP-ChIP_J774_Mouse6.39947708
3IRF1_21803131_ChIP-Seq_MONOCYTES_Human6.07742752
4BP1_19119308_ChIP-ChIP_Hs578T_Human5.18140318
5* IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.74691376
6FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.20922773
7* IRF8_27001747_Chip-Seq_BMDM_Mouse3.93178088
8SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.48486641
9* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human3.33060225
10NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.23847369
11Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse3.14250106
12STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.90529530
13STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.79675977
14STAT4_19710469_ChIP-ChIP_TH1__Mouse2.62649162
15* MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.56080774
16ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.49942828
17MYB_21317192_ChIP-Seq_ERMYB_Mouse2.45116261
18STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.43175036
19EGR1_23403033_ChIP-Seq_LIVER_Mouse2.41480236
20SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.30044553
21GATA1_22025678_ChIP-Seq_K562_Human2.25167739
22STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.99583957
23* RXR_22158963_ChIP-Seq_LIVER_Mouse1.88839396
24EGR1_19374776_ChIP-ChIP_THP-1_Human1.78067689
25NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.75382469
26TP63_17297297_ChIP-ChIP_HaCaT_Human1.73272460
27LXR_22158963_ChIP-Seq_LIVER_Mouse1.67651955
28PPARA_22158963_ChIP-Seq_LIVER_Mouse1.63733979
29NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.57392041
30BRD4_27068464_Chip-Seq_AML-cells_Mouse1.55779707
31VDR_21846776_ChIP-Seq_THP-1_Human1.53811887
32FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.51906089
33RUNX_20019798_ChIP-Seq_JUKART_Human1.50631092
34PU_27001747_Chip-Seq_BMDM_Mouse1.49250548
35VDR_24787735_ChIP-Seq_THP-1_Human1.48512114
36MYB_26560356_Chip-Seq_TH2_Human1.47736280
37* PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.47438629
38* SPI1_23547873_ChIP-Seq_NB4_Human1.46085079
39PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.44967587
40SMAD_19615063_ChIP-ChIP_OVARY_Human1.42140075
41THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.40389897
42* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.36605608
43CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.35545655
44CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.33538461
45GATA2_21666600_ChIP-Seq_HMVEC_Human1.28725642
46MAF_26560356_Chip-Seq_TH1_Human1.28060758
47MYC_22102868_ChIP-Seq_BL_Human1.27541209
48FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.26558370
49MYB_26560356_Chip-Seq_TH1_Human1.26536393
50* SCL_19346495_ChIP-Seq_HPC-7_Human1.25371804
51VDR_24763502_ChIP-Seq_THP-1_Human1.20180964
52RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.16538497
53TCF7_22412390_ChIP-Seq_EML_Mouse1.14578899
54CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.14221661
55SPI1_23127762_ChIP-Seq_K562_Human1.12122390
56TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.11923269
57CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.11509585
58* GATA3_26560356_Chip-Seq_TH2_Human1.10869175
59MAF_26560356_Chip-Seq_TH2_Human1.10539787
60SOX2_20726797_ChIP-Seq_SW620_Human1.09771159
61KDM2B_26808549_Chip-Seq_SUP-B15_Human1.08561106
62VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.08287981
63CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.07861766
64RUNX1_22412390_ChIP-Seq_EML_Mouse1.07421560
65PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.04213010
66ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.03863316
67BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.02455717
68* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.02260582
69VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.02160783
70GATA3_27048872_Chip-Seq_THYMUS_Human1.00529742
71NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.99936100
72NRF2_20460467_ChIP-Seq_MEFs_Mouse0.99936100
73GATA1_19941826_ChIP-Seq_K562_Human0.99058496
74CDX2_19796622_ChIP-Seq_MESCs_Mouse0.98002642
75EGR1_19032775_ChIP-ChIP_M12_Human0.97561204
76GATA2_22383799_ChIP-Seq_G1ME_Mouse0.95652519
77TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.95424034
78LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.94126155
79CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.94004203
80GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92471460
81TFEB_21752829_ChIP-Seq_HELA_Human0.92007086
82KDM2B_26808549_Chip-Seq_DND41_Human0.87429414
83GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.86177023
84KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.86152460
85SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.84103220
86BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.83570880
87KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.83139286
88ELK3_25401928_ChIP-Seq_HUVEC_Human0.81813511
89CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.81604969
90LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.80383644
91NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.80055632
92MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.79972371
93* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.78125338
94* GATA1_22383799_ChIP-Seq_G1ME_Mouse0.77117391
95PU.1_20513432_ChIP-Seq_Bcells_Mouse0.76950937
96SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.75137029
97STAT1_20625510_ChIP-Seq_HELA_Human0.74635196
98TRIM28_21343339_ChIP-Seq_HEK293_Human0.74422692
99NOTCH1_21737748_ChIP-Seq_TLL_Human0.73644084
100* FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.73311310
101GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.73157565
102SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.72922534
103SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.72922534
104GATA2_19941826_ChIP-Seq_K562_Human0.72259648
105FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.71935132
106* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.71827021
107* GATA1_19941827_ChIP-Seq_MEL_Mouse0.71014884
108CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.70546819
109SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.70487410
110ESR2_21235772_ChIP-Seq_MCF-7_Human0.69576499
111UTX_26944678_Chip-Seq_JUKART_Human0.68265387
112GATA4_25053715_ChIP-Seq_YYC3_Human0.68099407
113SMRT_27268052_Chip-Seq_Bcells_Human0.67710091
114CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.67438283
115E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.67427848
116NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.66578722
117CJUN_26792858_Chip-Seq_BT549_Human0.64124930
118TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.63252022
119SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.61179044
120JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.60997210
121GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.60960740
122FOXO3_23340844_ChIP-Seq_DLD1_Human0.60487519
123RARG_19884340_ChIP-ChIP_MEFs_Mouse0.59012381

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.48614553
2MP0009785_altered_susceptibility_to4.26928601
3MP0003436_decreased_susceptibility_to3.59645641
4MP0002148_abnormal_hypersensitivity_rea3.56231754
5MP0003724_increased_susceptibility_to3.38583980
6MP0006082_CNS_inflammation3.31753369
7MP0000685_abnormal_immune_system3.04654920
8MP0005000_abnormal_immune_tolerance3.02694259
9* MP0005025_abnormal_response_to2.98108843
10MP0002419_abnormal_innate_immunity2.87628279
11MP0005387_immune_system_phenotype2.85567655
12MP0001790_abnormal_immune_system2.85567655
13MP0005671_abnormal_response_to2.75000728
14MP0003303_peritoneal_inflammation2.65304472
15MP0004510_myositis2.52139325
16* MP0002452_abnormal_antigen_presenting2.41657661
17* MP0002723_abnormal_immune_serum2.39523769
18MP0001800_abnormal_humoral_immune2.39252915
19MP0009764_decreased_sensitivity_to2.38322471
20MP0005451_abnormal_body_composition2.11686294
21MP0004947_skin_inflammation2.03685109
22* MP0001819_abnormal_immune_cell2.03208603
23MP0002006_tumorigenesis2.00168632
24MP0002420_abnormal_adaptive_immunity1.98870830
25MP0001853_heart_inflammation1.96531953
26MP0005058_abnormal_lysosome_morphology1.92957558
27MP0005464_abnormal_platelet_physiology1.89858271
28MP0001533_abnormal_skeleton_physiology1.89827204
29* MP0008469_abnormal_protein_level1.86532011
30MP0001845_abnormal_inflammatory_respons1.85105912
31MP0009840_abnormal_foam_cell1.84786522
32MP0010155_abnormal_intestine_physiology1.80095055
33MP0002138_abnormal_hepatobiliary_system1.77253062
34MP0003191_abnormal_cellular_cholesterol1.75126478
35MP0005360_urolithiasis1.64929669
36MP0002139_abnormal_hepatobiliary_system1.63857129
37MP0002254_reproductive_system_inflammat1.54059338
38MP0002405_respiratory_system_inflammati1.52045431
39MP0003448_altered_tumor_morphology1.51249239
40MP0002166_altered_tumor_susceptibility1.50708900
41MP0000716_abnormal_immune_system1.49381236
42MP0001545_abnormal_hematopoietic_system1.45297899
43MP0005397_hematopoietic_system_phenotyp1.45297899
44MP0003075_altered_response_to1.42743847
45MP0000343_altered_response_to1.41630606
46MP0008004_abnormal_stomach_pH1.38365454
47MP0004782_abnormal_surfactant_physiolog1.37867246
48MP0002398_abnormal_bone_marrow1.36502614
49MP0005167_abnormal_blood-brain_barrier1.34851742
50MP0002998_abnormal_bone_remodeling1.33598119
51MP0002332_abnormal_exercise_endurance1.32320761
52MP0009278_abnormal_bone_marrow1.30583452
53MP0005310_abnormal_salivary_gland1.29380688
54MP0009333_abnormal_splenocyte_physiolog1.27857845
55MP0003186_abnormal_redox_activity1.20481137
56MP0003195_calcinosis1.18550266
57* MP0009763_increased_sensitivity_to1.18299614
58MP0003172_abnormal_lysosome_physiology1.16918903
59MP0002429_abnormal_blood_cell1.15636922
60MP0000858_altered_metastatic_potential1.13842444
61MP0003300_gastrointestinal_ulcer1.13479921
62MP0006054_spinal_hemorrhage1.12508470
63MP0003806_abnormal_nucleotide_metabolis1.12488289
64MP0000689_abnormal_spleen_morphology1.11081901
65MP0005166_decreased_susceptibility_to1.09263415
66MP0000604_amyloidosis1.06559111
67MP0005164_abnormal_response_to1.04671922
68MP0005085_abnormal_gallbladder_physiolo1.00808529
69MP0002722_abnormal_immune_system1.00718492
70MP0003453_abnormal_keratinocyte_physiol0.98696738
71MP0002277_abnormal_respiratory_mucosa0.97129310
72MP0003763_abnormal_thymus_physiology0.96675322
73MP0003690_abnormal_glial_cell0.95698304
74MP0010352_gastrointestinal_tract_polyps0.94570595
75MP0004883_abnormal_blood_vessel0.91686563
76MP0003252_abnormal_bile_duct0.88282704
77MP0000569_abnormal_digit_pigmentation0.87360642
78MP0000609_abnormal_liver_physiology0.87316048
79MP0005083_abnormal_biliary_tract0.86577442
80MP0005365_abnormal_bile_salt0.86356375
81MP0002877_abnormal_melanocyte_morpholog0.85644842
82MP0008260_abnormal_autophagy0.84563866
83MP0005319_abnormal_enzyme/_coenzyme0.84252397
84MP0005390_skeleton_phenotype0.80478501
85MP0001348_abnormal_lacrimal_gland0.79421545
86MP0002933_joint_inflammation0.78843913
87MP0000371_diluted_coat_color0.78771665
88MP0000465_gastrointestinal_hemorrhage0.77699018
89MP0000249_abnormal_blood_vessel0.77152695
90MP0001663_abnormal_digestive_system0.77132754
91MP0003183_abnormal_peptide_metabolism0.77081614
92MP0009765_abnormal_xenobiotic_induced0.75448092
93MP0010329_abnormal_lipoprotein_level0.75085766
94MP0000703_abnormal_thymus_morphology0.74307156
95MP0003091_abnormal_cell_migration0.73543533
96MP0002136_abnormal_kidney_physiology0.72198643
97MP0001881_abnormal_mammary_gland0.71889979
98MP0000372_irregular_coat_pigmentation0.71431527
99MP0005408_hypopigmentation0.69961522
100MP0002693_abnormal_pancreas_physiology0.69563158
101MP0008874_decreased_physiological_sensi0.68377242
102MP0008875_abnormal_xenobiotic_pharmacok0.68107100
103MP0005165_increased_susceptibility_to0.68047034
104MP0003656_abnormal_erythrocyte_physiolo0.67012811
105MP0003045_fibrosis0.66142605
106MP0010307_abnormal_tumor_latency0.66129375
107MP0004808_abnormal_hematopoietic_stem0.65714214
108MP0001851_eye_inflammation0.63075669
109MP0005584_abnormal_enzyme/coenzyme_acti0.63018183
110MP0003866_abnormal_defecation0.62425778
111MP0003795_abnormal_bone_structure0.62152192
112MP0003566_abnormal_cell_adhesion0.62049405
113MP0001873_stomach_inflammation0.62042107
114MP0005535_abnormal_body_temperature0.60621394
115MP0005023_abnormal_wound_healing0.59751298
116MP0003828_pulmonary_edema0.59161673
117MP0004019_abnormal_vitamin_homeostasis0.58914714
118MP0000598_abnormal_liver_morphology0.58612788
119MP0000920_abnormal_myelination0.56370691
120MP0001542_abnormal_bone_strength0.54271312

Predicted human phenotypes

RankGene SetZ-score
1Eczematoid dermatitis (HP:0000976)6.21369779
2Recurrent abscess formation (HP:0002722)5.72416216
3Recurrent bacterial skin infections (HP:0005406)5.67170827
4Recurrent gram-negative bacterial infections (HP:0005420)5.60349506
5Autoimmune thrombocytopenia (HP:0001973)4.85633414
6Elevated erythrocyte sedimentation rate (HP:0003565)4.85568987
7Mediastinal lymphadenopathy (HP:0100721)4.78442665
8Systemic lupus erythematosus (HP:0002725)4.37495073
9Increased IgM level (HP:0003496)4.36761133
10Abnormality of macrophages (HP:0004311)4.34242561
11Orchitis (HP:0100796)4.07802658
12Myositis (HP:0100614)4.04397357
13Optic neuritis (HP:0100653)3.90514454
14Retrobulbar optic neuritis (HP:0100654)3.90514454
15Recurrent skin infections (HP:0001581)3.86934097
16Recurrent fungal infections (HP:0002841)3.81373986
17Loss of speech (HP:0002371)3.63823986
18Recurrent viral infections (HP:0004429)3.52209714
19Stomatitis (HP:0010280)3.50973501
20Vacuolated lymphocytes (HP:0001922)3.47742210
21* Vasculitis (HP:0002633)3.47045660
22Gingivitis (HP:0000230)3.46340612
23Gastrointestinal infarctions (HP:0005244)3.43943244
24Periodontitis (HP:0000704)3.32808264
25Chronic otitis media (HP:0000389)3.29683140
26Gingival bleeding (HP:0000225)3.14689836
27Interstitial pulmonary disease (HP:0006530)3.09623074
28Tetraparesis (HP:0002273)3.08900520
29Gastrointestinal stroma tumor (HP:0100723)3.08462917
30T lymphocytopenia (HP:0005403)3.07754134
31Chronic mucocutaneous candidiasis (HP:0002728)3.07112447
32Recurrent cutaneous fungal infections (HP:0011370)3.07112447
33Myocardial infarction (HP:0001658)3.04776198
34Dysostosis multiplex (HP:0000943)3.02921056
35Joint hemorrhage (HP:0005261)3.01878009
36Pulmonary infiltrates (HP:0002113)2.98313538
37Encephalitis (HP:0002383)2.96015735
38Arterial thrombosis (HP:0004420)2.86805097
39Pustule (HP:0200039)2.82765054
40Disinhibition (HP:0000734)2.78214579
41* Basal ganglia calcification (HP:0002135)2.67696658
42Glomerulonephritis (HP:0000099)2.64690351
43Prostate neoplasm (HP:0100787)2.63689637
44Obstructive lung disease (HP:0006536)2.62112437
45Chronic obstructive pulmonary disease (HP:0006510)2.62112437
46Joint swelling (HP:0001386)2.61052554
47Increased neuronal autofluorescent lipopigment (HP:0002074)2.60578157
48Increased cerebral lipofuscin (HP:0011813)2.60352187
49Thick nail (HP:0001805)2.60124460
50Autoimmune hemolytic anemia (HP:0001890)2.57340831
51Hemoptysis (HP:0002105)2.52990100
52Urticaria (HP:0001025)2.51969251
53Nephritis (HP:0000123)2.51887395
54* Hypergammaglobulinemia (HP:0010702)2.50484727
55Meningitis (HP:0001287)2.47054422
56Axonal loss (HP:0003447)2.45641917
57Abnormality of mucopolysaccharide metabolism (HP:0011020)2.44510894
58Abnormality of polysaccharide metabolism (HP:0011012)2.44510894
59Abnormality of glycosaminoglycan metabolism (HP:0004371)2.44510894
60Pulmonary embolism (HP:0002204)2.43686884
61Urinary glycosaminoglycan excretion (HP:0003541)2.41406033
62Mucopolysacchariduria (HP:0008155)2.41406033
63Poor head control (HP:0002421)2.41394199
64Keratoconjunctivitis sicca (HP:0001097)2.40105435
65Peritonitis (HP:0002586)2.39923540
66Petechiae (HP:0000967)2.39360168
67Leukocytosis (HP:0001974)2.39298034
68Cellulitis (HP:0100658)2.36574479
69Polyneuropathy (HP:0001271)2.35983012
70Esophageal varix (HP:0002040)2.35372318
71Abnormality of T cells (HP:0002843)2.35311531
72Premature loss of primary teeth (HP:0006323)2.35124465
73Prolonged partial thromboplastin time (HP:0003645)2.32541835
74Anorexia (HP:0002039)2.30470692
75Purpura (HP:0000979)2.30235012
76Inflammation of the large intestine (HP:0002037)2.28497846
77Complement deficiency (HP:0004431)2.27008051
78Osteolytic defects of the hand bones (HP:0009699)2.26923368
79Osteolytic defects of the phalanges of the hand (HP:0009771)2.26923368
80Nasal polyposis (HP:0100582)2.26541051
81Abnormality of B cell number (HP:0010975)2.22993844
82Keratoconjunctivitis (HP:0001096)2.21904025
83Increased serum ferritin (HP:0003281)2.21297344
84Mitral stenosis (HP:0001718)2.20571469
85Osteomyelitis (HP:0002754)2.20534084
86Progressive neurologic deterioration (HP:0002344)2.19865673
87Lymphopenia (HP:0001888)2.19196295
88Vertebral compression fractures (HP:0002953)2.18931897
89Chronic diarrhea (HP:0002028)2.18247973
90Bone pain (HP:0002653)2.17043912
91Glomerulopathy (HP:0100820)2.16001161
92Epistaxis (HP:0000421)2.15871572
93Emphysema (HP:0002097)2.15289649
94Keratitis (HP:0000491)2.14837619
95Abnormality of the endocardium (HP:0004306)2.14799676
96Abnormality of cells of the lymphoid lineage (HP:0012140)2.13677579
97Abnormality of the nasal mucosa (HP:0000433)2.13449802
98Recurrent pneumonia (HP:0006532)2.12894690
99Gastrointestinal inflammation (HP:0004386)2.12626994
100Acne (HP:0001061)2.12001878
101Hemorrhage of the eye (HP:0011885)2.11853705
102Vertigo (HP:0002321)2.11409529
103Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.10740251
104Gangrene (HP:0100758)2.08723775
105Hematochezia (HP:0002573)2.08349702
106Restrictive lung disease (HP:0002091)2.07407458
107Spontaneous hematomas (HP:0007420)2.06257982
108Recurrent bronchitis (HP:0002837)2.06216507
109Increased IgE level (HP:0003212)2.06212100
110Abnormality of complement system (HP:0005339)2.05695864
111Chest pain (HP:0100749)2.05563285
112Malnutrition (HP:0004395)2.05266463
113Episodic fever (HP:0001954)2.04610295
114Abnormality of T cell physiology (HP:0011840)2.04428813
115Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.03963415
116Abnormal delayed hypersensitivity skin test (HP:0002963)2.03786698
117Abnormality of T cell number (HP:0011839)2.03328989
118Recurrent lower respiratory tract infections (HP:0002783)2.03100443
119Colitis (HP:0002583)2.02887343
120Abnormality of glycolipid metabolism (HP:0010969)2.02495265
121Abnormality of liposaccharide metabolism (HP:0010968)2.02495265
122Abnormality of glycosphingolipid metabolism (HP:0004343)2.02495265
123B lymphocytopenia (HP:0010976)2.01823849
124Abnormality of the pericardium (HP:0001697)2.01125542
125Abnormality of glutamine family amino acid metabolism (HP:0010902)2.01104913
126Amyloidosis (HP:0011034)2.01006071
127IgA deficiency (HP:0002720)2.00150008
128Arthralgia (HP:0002829)1.99527848
129Thrombophlebitis (HP:0004418)1.99437939
130Hepatosplenomegaly (HP:0001433)1.98150657
131Eosinophilia (HP:0001880)1.97328952
132Abnormality of the pleura (HP:0002103)1.96703657
133Pathologic fracture (HP:0002756)1.96401895
134Abnormality of the common coagulation pathway (HP:0010990)1.95868226
135Xanthomatosis (HP:0000991)1.95790323
136Granulocytopenia (HP:0001913)1.95683389

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K145.07385106
2TBK13.92083784
3TYK23.79785296
4IKBKE3.44894368
5PBK3.35602437
6RIPK43.23398379
7IRAK43.20513542
8JAK33.17338204
9IRAK33.16802774
10BLK2.58763594
11IKBKB2.58336682
12PRPF4B2.54935701
13JAK12.54470988
14TXK2.34284395
15MAP3K132.20407929
16MAP4K12.16342183
17KIT2.03142226
18ERN12.02094370
19PIM22.01260526
20FGFR42.00550394
21TAOK21.95796020
22MST41.81527921
23CHUK1.79324931
24ZAP701.45459259
25CSK1.43429606
26NEK91.42086902
27BMPR21.40528107
28DDR21.40179974
29IRAK11.36528764
30MAP3K31.36507863
31TAOK11.34030614
32FGFR31.30557231
33EPHA31.28030611
34SYK1.26250361
35JAK21.25936178
36EPHB11.25500803
37TAOK31.23466179
38MST1R1.22089364
39HCK1.14689009
40PIM11.14631839
41CDC42BPA1.12770081
42BMX1.08137645
43EIF2AK21.04400881
44NME21.01577443
45IRAK20.97946911
46RIPK10.97758393
47LCK0.97485783
48BTK0.96350082
49ABL20.95628936
50RPS6KA40.94989429
51STK40.92913474
52MATK0.91825122
53MAP3K50.91377107
54MARK30.89065804
55LYN0.88666252
56TEC0.82569552
57HIPK20.82216658
58CSF1R0.72254927
59TNK20.69595024
60SIK30.68154442
61TGFBR20.68075715
62TRPM70.67623668
63YES10.63481549
64MAP2K60.61917264
65NLK0.59286558
66ABL10.59241038
67SIK10.57949140
68PRKCQ0.57506844
69ARAF0.57161406
70ERBB40.56828651
71EGFR0.54944796
72STK30.52244044
73CLK10.51457739
74PRKCD0.51406320
75MAPK70.50256510
76PTK60.49151213
77MAP3K100.48413105
78FGR0.48318733
79PIK3CG0.48031619
80PRKG20.47315135
81STK100.45943310
82FLT30.44978790
83CDK60.38007768
84STK240.37841830
85FRK0.37574313
86GRK60.37536254
87FES0.37061632
88PDPK10.34992395
89MAP3K10.34927690
90ERBB30.31570147
91ACVR1B0.30353990
92LRRK20.30145017
93DYRK30.29877030
94DAPK30.29647678
95MAP2K30.28971052
96ADRBK20.28495876
97KDR0.27846623
98TTN0.27688845
99KSR20.27444549
100CDK40.27416285
101DYRK1B0.26078489
102MAP3K20.26039993
103RPS6KA50.25913055
104FYN0.25614893
105MAPK110.25450793
106ITK0.25232112
107IGF1R0.24998369
108GRK70.24630776
109MAP3K110.24415259
110MAPK40.23989817
111SIK20.23137573
112PRKD20.21452662
113NUAK10.20240722
114MAPKAPK20.19511852
115TIE10.18786198
116MAPK30.18366130
117DAPK20.17923413
118PDGFRB0.17528657
119CAMK1D0.17477150
120TESK10.17156302
121MELK0.16694903
122INSRR0.16084771
123INSR0.14501965
124PDK10.14175799
125RPS6KA10.14034701
126MOS0.13946797
127MAP3K90.13919410

Predicted pathways (KEGG)

RankGene SetZ-score
1Graft-versus-host disease_Homo sapiens_hsa053323.59790357
2Allograft rejection_Homo sapiens_hsa053303.23123419
3Leishmaniasis_Homo sapiens_hsa051403.06168183
4Toll-like receptor signaling pathway_Homo sapiens_hsa046203.02537861
5Cytosolic DNA-sensing pathway_Homo sapiens_hsa046233.00576336
6Staphylococcus aureus infection_Homo sapiens_hsa051502.96651996
7NF-kappa B signaling pathway_Homo sapiens_hsa040642.76092156
8* RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.56561021
9NOD-like receptor signaling pathway_Homo sapiens_hsa046212.42963511
10Intestinal immune network for IgA production_Homo sapiens_hsa046722.34636946
11Type I diabetes mellitus_Homo sapiens_hsa049402.34381843
12Legionellosis_Homo sapiens_hsa051342.32105556
13* Measles_Homo sapiens_hsa051622.30061429
14Malaria_Homo sapiens_hsa051442.17034106
15Pertussis_Homo sapiens_hsa051332.16789161
16* Influenza A_Homo sapiens_hsa051642.03015134
17Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.02598292
18TNF signaling pathway_Homo sapiens_hsa046682.01331432
19Osteoclast differentiation_Homo sapiens_hsa043802.00501141
20Rheumatoid arthritis_Homo sapiens_hsa053231.97403530
21African trypanosomiasis_Homo sapiens_hsa051431.90403949
22Tuberculosis_Homo sapiens_hsa051521.88778496
23Asthma_Homo sapiens_hsa053101.86612281
24* Herpes simplex infection_Homo sapiens_hsa051681.71017914
25Autoimmune thyroid disease_Homo sapiens_hsa053201.58482290
26Toxoplasmosis_Homo sapiens_hsa051451.57014834
27Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.43121822
28Jak-STAT signaling pathway_Homo sapiens_hsa046301.42428445
29Complement and coagulation cascades_Homo sapiens_hsa046101.38884413
30Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.37162110
31Salmonella infection_Homo sapiens_hsa051321.35170031
32Caffeine metabolism_Homo sapiens_hsa002321.33540466
33Hepatitis C_Homo sapiens_hsa051601.26078310
34Hematopoietic cell lineage_Homo sapiens_hsa046401.24672971
35Primary bile acid biosynthesis_Homo sapiens_hsa001201.21301907
36Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.18506671
37Primary immunodeficiency_Homo sapiens_hsa053401.17702083
38Chemokine signaling pathway_Homo sapiens_hsa040621.16338458
39Antigen processing and presentation_Homo sapiens_hsa046121.14851831
40Apoptosis_Homo sapiens_hsa042101.14700150
41Phagosome_Homo sapiens_hsa041451.09692686
42Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.05229238
43Viral myocarditis_Homo sapiens_hsa054161.05011480
44B cell receptor signaling pathway_Homo sapiens_hsa046621.04565785
45Lysosome_Homo sapiens_hsa041420.98721800
46Shigellosis_Homo sapiens_hsa051310.97925895
47Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.95710659
48AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.93636018
49Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.92142028
50Prion diseases_Homo sapiens_hsa050200.90881719
51Pentose and glucuronate interconversions_Homo sapiens_hsa000400.89531312
52* Hepatitis B_Homo sapiens_hsa051610.88846278
53Amoebiasis_Homo sapiens_hsa051460.81883399
54Prolactin signaling pathway_Homo sapiens_hsa049170.74628583
55Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.71764437
56Adipocytokine signaling pathway_Homo sapiens_hsa049200.69681675
57Arginine biosynthesis_Homo sapiens_hsa002200.68844600
58Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.67641213
59Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.67019627
60Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.65481195
61Systemic lupus erythematosus_Homo sapiens_hsa053220.61280604
62Other glycan degradation_Homo sapiens_hsa005110.60436961
63Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.59319617
64Acute myeloid leukemia_Homo sapiens_hsa052210.59231038
65Glycosaminoglycan degradation_Homo sapiens_hsa005310.58356826
66ABC transporters_Homo sapiens_hsa020100.57266486
67T cell receptor signaling pathway_Homo sapiens_hsa046600.57064978
68Tryptophan metabolism_Homo sapiens_hsa003800.55588197
69Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.54946251
70VEGF signaling pathway_Homo sapiens_hsa043700.54002564
71Leukocyte transendothelial migration_Homo sapiens_hsa046700.52002462
72Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.50248658
73Bladder cancer_Homo sapiens_hsa052190.50018561
74Peroxisome_Homo sapiens_hsa041460.49091017
75PPAR signaling pathway_Homo sapiens_hsa033200.48865958
76Histidine metabolism_Homo sapiens_hsa003400.48154184
77Sphingolipid signaling pathway_Homo sapiens_hsa040710.48005646
78HTLV-I infection_Homo sapiens_hsa051660.44899760
79Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.44201432
80Dorso-ventral axis formation_Homo sapiens_hsa043200.42460161
81Sphingolipid metabolism_Homo sapiens_hsa006000.41151847
82Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.40366455
83SNARE interactions in vesicular transport_Homo sapiens_hsa041300.39654592
84Small cell lung cancer_Homo sapiens_hsa052220.36593592
85Platelet activation_Homo sapiens_hsa046110.33994313
86Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.32154739
87Insulin resistance_Homo sapiens_hsa049310.31560766
88Chronic myeloid leukemia_Homo sapiens_hsa052200.31423617
89Vitamin digestion and absorption_Homo sapiens_hsa049770.31164016
90Epstein-Barr virus infection_Homo sapiens_hsa051690.30047009
91Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.29464152
92FoxO signaling pathway_Homo sapiens_hsa040680.29307719
93Starch and sucrose metabolism_Homo sapiens_hsa005000.28805158
94Type II diabetes mellitus_Homo sapiens_hsa049300.28804269
95Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.27496994
96Non-small cell lung cancer_Homo sapiens_hsa052230.27329289
97Phenylalanine metabolism_Homo sapiens_hsa003600.26153042
98Mineral absorption_Homo sapiens_hsa049780.25993796
99Steroid hormone biosynthesis_Homo sapiens_hsa001400.25122372
100Notch signaling pathway_Homo sapiens_hsa043300.25064027
101Sulfur metabolism_Homo sapiens_hsa009200.24160808
102Transcriptional misregulation in cancer_Homo sapiens_hsa052020.23808539
103Pancreatic cancer_Homo sapiens_hsa052120.23506025
104Renal cell carcinoma_Homo sapiens_hsa052110.23353979
105Folate biosynthesis_Homo sapiens_hsa007900.22905134
106HIF-1 signaling pathway_Homo sapiens_hsa040660.22334430
107Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.22176489
108Endocytosis_Homo sapiens_hsa041440.21777235
109Neurotrophin signaling pathway_Homo sapiens_hsa047220.20383171
110Viral carcinogenesis_Homo sapiens_hsa052030.19435442
111Retinol metabolism_Homo sapiens_hsa008300.18680117
112Nitrogen metabolism_Homo sapiens_hsa009100.18494242
113Chemical carcinogenesis_Homo sapiens_hsa052040.18279348
114mTOR signaling pathway_Homo sapiens_hsa041500.17897187
115Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.17519806
116Collecting duct acid secretion_Homo sapiens_hsa049660.17279472
117Fatty acid degradation_Homo sapiens_hsa000710.15615800
118MAPK signaling pathway_Homo sapiens_hsa040100.15424881
119Prostate cancer_Homo sapiens_hsa052150.10438728
120Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.09105504
121Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.08845053
122GnRH signaling pathway_Homo sapiens_hsa049120.06331192
123Carbohydrate digestion and absorption_Homo sapiens_hsa049730.05682027

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