IRF4

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 belongs to the IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes. This family member is lymphocyte specific and negatively regulates Toll-like-receptor (TLR) signaling that is central to the activation of innate and adaptive immune systems. A chromosomal translocation involving this gene and the IgH locus, t(6;14)(p25;q32), may be a cause of multiple myeloma. Alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of interleukin-12 biosynthetic process (GO:0045075)8.35665094
2positive regulation of gamma-delta T cell activation (GO:0046645)7.11979783
3regulation of gamma-delta T cell differentiation (GO:0045586)6.50258600
4negative thymic T cell selection (GO:0045060)6.15148099
5negative T cell selection (GO:0043383)6.02128506
6positive thymic T cell selection (GO:0045059)5.91623926
7regulation of gamma-delta T cell activation (GO:0046643)5.89906437
8response to interleukin-15 (GO:0070672)5.23928496
9* positive regulation of interleukin-2 biosynthetic process (GO:0045086)5.00045812
10positive T cell selection (GO:0043368)4.99904033
11regulation of isotype switching to IgG isotypes (GO:0048302)4.94120076
12thymic T cell selection (GO:0045061)4.93524894
13NIK/NF-kappaB signaling (GO:0038061)4.87361519
14regulation of alpha-beta T cell proliferation (GO:0046640)4.78532610
15B cell homeostasis (GO:0001782)4.73833171
16positive regulation of isotype switching (GO:0045830)4.71082521
17T cell selection (GO:0045058)4.65183871
18regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)4.64019056
19cellular response to interleukin-15 (GO:0071350)4.48301479
20regulation of regulatory T cell differentiation (GO:0045589)4.45004693
21positive regulation of natural killer cell differentiation (GO:0032825)4.44219562
22regulation of vitamin D biosynthetic process (GO:0060556)4.38552928
23tyrosine phosphorylation of STAT protein (GO:0007260)4.35674818
24antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.35249790
25antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.35249790
26positive regulation of humoral immune response (GO:0002922)4.32520515
27JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)4.29527989
28antigen processing and presentation of endogenous antigen (GO:0019883)4.22679323
29regulation of immunoglobulin secretion (GO:0051023)4.19578062
30positive regulation by symbiont of host defense response (GO:0052509)4.14107856
31modulation by symbiont of host defense response (GO:0052031)4.14107856
32modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.14107856
33modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.14107856
34positive regulation by organism of defense response of other organism involved in symbiotic interact4.14107856
35modulation by symbiont of host immune response (GO:0052553)4.14107856
36tolerance induction (GO:0002507)4.12933766
37* positive regulation of interleukin-2 production (GO:0032743)4.09267815
38* CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)4.08415679
39positive regulation of alpha-beta T cell proliferation (GO:0046641)4.04765949
40activated T cell proliferation (GO:0050798)4.03896499
41immunoglobulin mediated immune response (GO:0016064)3.98027219
42cellular response to nicotine (GO:0071316)3.96079715
43positive regulation of DNA recombination (GO:0045911)3.96032278
44positive regulation of T cell cytokine production (GO:0002726)3.95642213
45positive regulation of B cell mediated immunity (GO:0002714)3.94993900
46positive regulation of immunoglobulin mediated immune response (GO:0002891)3.94993900
47positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.94696029
48negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.91430108
49negative regulation of cell killing (GO:0031342)3.91430108
50* regulation of interleukin-2 biosynthetic process (GO:0045076)3.89768153
51* interferon-gamma-mediated signaling pathway (GO:0060333)3.88725567
52* cellular response to type I interferon (GO:0071357)3.87419098
53* type I interferon signaling pathway (GO:0060337)3.87419098
54* response to type I interferon (GO:0034340)3.86864973
55regulation of vitamin metabolic process (GO:0030656)3.86678755
56positive regulation of B cell differentiation (GO:0045579)3.85856986
57cytidine metabolic process (GO:0046087)3.85076527
58cytidine catabolic process (GO:0006216)3.85076527
59cytidine deamination (GO:0009972)3.85076527
60positive regulation of immunoglobulin production (GO:0002639)3.65142809
61T cell costimulation (GO:0031295)3.64797796
62B cell mediated immunity (GO:0019724)3.63924513
63regulation of B cell receptor signaling pathway (GO:0050855)3.63308190
64positive regulation of inflammatory response to antigenic stimulus (GO:0002863)3.62351713
65B cell proliferation (GO:0042100)3.62124942
66leukocyte aggregation (GO:0070486)3.58029479
67lymphocyte costimulation (GO:0031294)3.57502727
68T cell receptor signaling pathway (GO:0050852)3.55356170
69regulation of isotype switching (GO:0045191)3.55013038
70positive regulation of interferon-alpha production (GO:0032727)3.53946173
71regulation of B cell differentiation (GO:0045577)3.53252253
72regulation of interferon-beta biosynthetic process (GO:0045357)3.52520463
73antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.50675423
74negative regulation of interleukin-12 production (GO:0032695)3.50187953
75regulation of T cell tolerance induction (GO:0002664)3.48904078
76positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.45628227
77positive regulation of activated T cell proliferation (GO:0042104)3.45183314
78positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)3.44197402
79positive regulation of natural killer cell mediated immunity (GO:0002717)3.44197402
80negative regulation of B cell proliferation (GO:0030889)3.40503851
81regulation of immunoglobulin production (GO:0002637)3.40296105
82response to muramyl dipeptide (GO:0032495)3.39647167
83regulation of interferon-alpha production (GO:0032647)3.38712312
84pyrimidine ribonucleoside catabolic process (GO:0046133)3.38261506
85T cell proliferation (GO:0042098)3.36866679
86mature B cell differentiation (GO:0002335)3.33368711
87Peyers patch development (GO:0048541)3.32809111
88mucosal-associated lymphoid tissue development (GO:0048537)3.32809111
89* myeloid dendritic cell differentiation (GO:0043011)3.32418252
90interferon-gamma production (GO:0032609)3.31389617
91T cell homeostasis (GO:0043029)3.29262237
92antigen receptor-mediated signaling pathway (GO:0050851)3.26906357
93nuclear pore complex assembly (GO:0051292)3.25780017
94regulation of immunoglobulin mediated immune response (GO:0002889)3.23030717
95regulation of interferon-gamma biosynthetic process (GO:0045072)3.22909502
96activation of MAPKKK activity (GO:0000185)3.22500474
97natural killer cell differentiation (GO:0001779)3.22270591
98positive regulation of interleukin-17 production (GO:0032740)3.22129570
99* regulation of interleukin-2 production (GO:0032663)3.21368797
100regulation of T-helper 1 cell differentiation (GO:0045625)3.18722651
101regulation of B cell mediated immunity (GO:0002712)3.18109009
102regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.16668210
103regulation of natural killer cell mediated immunity (GO:0002715)3.16668210
104detection of bacterium (GO:0016045)3.16112375
105positive regulation of lymphocyte mediated immunity (GO:0002708)3.15926180
106regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.14058728
107regulation of thymocyte apoptotic process (GO:0070243)3.13942637
108* T cell lineage commitment (GO:0002360)3.12600211
109T cell migration (GO:0072678)3.12582085
110positive regulation of macrophage cytokine production (GO:0060907)3.10873576
111regulation of interleukin-12 production (GO:0032655)3.09513837
112T-helper 1 type immune response (GO:0042088)3.07581716
113positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)3.06691674
114positive regulation of B cell activation (GO:0050871)3.05147560
115B cell receptor signaling pathway (GO:0050853)3.04774990
116regulation of dendritic cell antigen processing and presentation (GO:0002604)3.04439422
117* myeloid dendritic cell activation (GO:0001773)3.04067530
118regulation of B cell activation (GO:0050864)3.03283510
119positive regulation of T cell differentiation (GO:0045582)3.02187067
120* cellular response to interferon-gamma (GO:0071346)3.00393916
121response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.99586912
122response to host immune response (GO:0052572)2.99586912
123positive regulation of macrophage derived foam cell differentiation (GO:0010744)2.99490999
124membrane protein intracellular domain proteolysis (GO:0031293)2.99278638
125regulation of type I interferon-mediated signaling pathway (GO:0060338)2.98608022
126negative regulation of T cell mediated immunity (GO:0002710)2.98590876
127positive regulation of production of molecular mediator of immune response (GO:0002702)2.95790947
128negative regulation of B cell apoptotic process (GO:0002903)2.94137322
129positive regulation of protein homooligomerization (GO:0032464)2.93885801
130regulation of B cell proliferation (GO:0030888)2.92180657
131regulation of T cell receptor signaling pathway (GO:0050856)2.89508589
132T cell apoptotic process (GO:0070231)2.86859703
133positive regulation of B cell proliferation (GO:0030890)2.86679188
134positive regulation of lymphocyte differentiation (GO:0045621)2.84875874
135growth hormone receptor signaling pathway (GO:0060396)2.84742135
136positive regulation of T cell proliferation (GO:0042102)2.84577432
137regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.84388287
138regulation of response to interferon-gamma (GO:0060330)2.84056027
139leukocyte homeostasis (GO:0001776)2.82529165
140detection of other organism (GO:0098543)2.82323594
141regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.81993860
142germinal center formation (GO:0002467)2.81404429
143lymphocyte homeostasis (GO:0002260)2.81294414
144lymphocyte migration (GO:0072676)2.80445503
145positive regulation of interleukin-12 production (GO:0032735)2.80437792
146positive regulation of protein oligomerization (GO:0032461)2.79237659
147response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.78674948
148response to host (GO:0075136)2.78674948
149response to host defenses (GO:0052200)2.78674948

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* FOXP3_17237761_ChIP-ChIP_TREG_Mouse6.60332228
2* STAT6_20620947_ChIP-Seq_CD4_POS_T_Human5.33072732
3E2F7_22180533_ChIP-Seq_HELA_Human4.65792956
4MYC_22102868_ChIP-Seq_BL_Human4.43658043
5EGR1_19374776_ChIP-ChIP_THP-1_Human3.86325241
6NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.76790102
7STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.46150446
8IRF8_22096565_ChIP-ChIP_GC-B_Human3.23574740
9NOTCH1_21737748_ChIP-Seq_TLL_Human3.23542336
10BP1_19119308_ChIP-ChIP_Hs578T_Human3.20597455
11* IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.18845211
12* STAT4_19710469_ChIP-ChIP_TH1__Mouse3.08509918
13RUNX_20019798_ChIP-Seq_JUKART_Human2.98578378
14* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.81078634
15* MYB_26560356_Chip-Seq_TH2_Human2.77111462
16* MAF_26560356_Chip-Seq_TH1_Human2.66206003
17VDR_21846776_ChIP-Seq_THP-1_Human2.63069159
18SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.55516784
19MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.50498925
20MYB_26560356_Chip-Seq_TH1_Human2.50206039
21IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.31628730
22KDM2B_26808549_Chip-Seq_HPB-ALL_Human2.31441016
23UTX_26944678_Chip-Seq_JUKART_Human2.23930396
24TCF7_22412390_ChIP-Seq_EML_Mouse2.21574019
25* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.19517577
26ELF1_17652178_ChIP-ChIP_JURKAT_Human2.11846009
27ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.99572327
28NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.98622171
29* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.96210389
30MYB_21317192_ChIP-Seq_ERMYB_Mouse1.94204254
31MAF_26560356_Chip-Seq_TH2_Human1.93783319
32SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.92306997
33KDM2B_26808549_Chip-Seq_DND41_Human1.90512461
34VDR_24763502_ChIP-Seq_THP-1_Human1.88054304
35SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.87973771
36IRF8_21731497_ChIP-ChIP_J774_Mouse1.87537642
37SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.84120825
38* IRF8_27001747_Chip-Seq_BMDM_Mouse1.81712804
39E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.78461527
40FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.78324550
41GATA3_27048872_Chip-Seq_THYMUS_Human1.72998471
42* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.70465327
43STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.66202185
44EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.65320373
45MYC_18555785_ChIP-Seq_MESCs_Mouse1.63008627
46BRD4_27068464_Chip-Seq_AML-cells_Mouse1.60363222
47GATA1_22025678_ChIP-Seq_K562_Human1.59514311
48RUNX1_22412390_ChIP-Seq_EML_Mouse1.58227635
49FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.54763872
50CIITA_25753668_ChIP-Seq_RAJI_Human1.53044990
51SPI1_23547873_ChIP-Seq_NB4_Human1.49470130
52BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.42540522
53E2F4_17652178_ChIP-ChIP_JURKAT_Human1.42002608
54VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.40561032
55TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.40391612
56KDM2B_26808549_Chip-Seq_JURKAT_Human1.32021583
57CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.26998991
58VDR_23849224_ChIP-Seq_CD4+_Human1.24816733
59FOXM1_23109430_ChIP-Seq_U2OS_Human1.24776905
60CREB1_15753290_ChIP-ChIP_HEK293T_Human1.24208682
61MYC_19079543_ChIP-ChIP_MESCs_Mouse1.23667023
62SPI1_23127762_ChIP-Seq_K562_Human1.19751481
63SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.17213616
64ELK3_25401928_ChIP-Seq_HUVEC_Human1.16928324
65PU_27001747_Chip-Seq_BMDM_Mouse1.16340381
66KDM5A_27292631_Chip-Seq_BREAST_Human1.13260602
67EST1_17652178_ChIP-ChIP_JURKAT_Human1.11796246
68SCL_19346495_ChIP-Seq_HPC-7_Human1.11677203
69DCP1A_22483619_ChIP-Seq_HELA_Human1.11183702
70NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.10983265
71HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.10833810
72TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.10761622
73RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.08336122
74MYC_18358816_ChIP-ChIP_MESCs_Mouse1.07733796
75FOXP3_21729870_ChIP-Seq_TREG_Human1.06623665
76NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.06063128
77GATA2_22383799_ChIP-Seq_G1ME_Mouse1.06002808
78YY1_21170310_ChIP-Seq_MESCs_Mouse1.03903138
79ETS1_20019798_ChIP-Seq_JURKAT_Human1.02859911
80MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.01269550
81TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.00826563
82GATA3_26560356_Chip-Seq_TH2_Human0.98102293
83NCOR1_26117541_ChIP-Seq_K562_Human0.97854234
84FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.97692734
85TP63_17297297_ChIP-ChIP_HaCaT_Human0.97381422
86PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.97008646
87E2F1_21310950_ChIP-Seq_MCF-7_Human0.95841570
88CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.95696742
89SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.94774670
90RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.94100127
91STAT6_21828071_ChIP-Seq_BEAS2B_Human0.93709900
92GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.93267775
93* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.92807673
94ELK1_19687146_ChIP-ChIP_HELA_Human0.91771655
95XRN2_22483619_ChIP-Seq_HELA_Human0.90464247
96POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.90392912
97NELFA_20434984_ChIP-Seq_ESCs_Mouse0.89825403
98KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.89492526
99DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.88455168
100MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.87600241
101E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.86778679
102CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.86135364
103RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85559075
104ELF5_23300383_ChIP-Seq_T47D_Human0.85061328
105FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.84551605
106CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.84330539
107CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.82808721
108DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.82735193
109THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.82288526
110* PU.1_20513432_ChIP-Seq_Bcells_Mouse0.81749696
111MYC_19030024_ChIP-ChIP_MESCs_Mouse0.81526933
112TFEB_21752829_ChIP-Seq_HELA_Human0.78925190
113HIF1A_21447827_ChIP-Seq_MCF-7_Human0.78894149
114ERG_20887958_ChIP-Seq_HPC-7_Mouse0.78825895
115GATA1_22383799_ChIP-Seq_G1ME_Mouse0.78439957
116KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.76657129
117CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.75626542
118STAT3_1855785_ChIP-Seq_MESCs_Mouse0.75568335
119HOXB4_20404135_ChIP-ChIP_EML_Mouse0.75519855
120VDR_24787735_ChIP-Seq_THP-1_Human0.72441641

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003763_abnormal_thymus_physiology4.37625832
2MP0003303_peritoneal_inflammation4.34550971
3MP0003436_decreased_susceptibility_to3.83088285
4MP0000685_abnormal_immune_system3.76114615
5MP0001835_abnormal_antigen_presentation3.60033202
6MP0003300_gastrointestinal_ulcer3.39343561
7* MP0001800_abnormal_humoral_immune3.36831146
8MP0005671_abnormal_response_to3.32181237
9* MP0005387_immune_system_phenotype3.22666024
10* MP0001790_abnormal_immune_system3.22666024
11MP0005000_abnormal_immune_tolerance3.07040388
12MP0004510_myositis2.99067640
13MP0003866_abnormal_defecation2.78798703
14MP0002405_respiratory_system_inflammati2.73289767
15* MP0002723_abnormal_immune_serum2.67094806
16* MP0002452_abnormal_antigen_presenting2.65378656
17MP0002396_abnormal_hematopoietic_system2.61518500
18* MP0002398_abnormal_bone_marrow2.57429321
19MP0001853_heart_inflammation2.53151283
20* MP0002420_abnormal_adaptive_immunity2.45864079
21* MP0001819_abnormal_immune_cell2.41128389
22MP0009785_altered_susceptibility_to2.39667773
23MP0001873_stomach_inflammation2.37457660
24MP0008057_abnormal_DNA_replication2.34801271
25MP0010155_abnormal_intestine_physiology2.30075949
26MP0009333_abnormal_splenocyte_physiolog2.29929020
27MP0000703_abnormal_thymus_morphology2.26692741
28* MP0000716_abnormal_immune_system2.20987347
29* MP0000689_abnormal_spleen_morphology2.11848952
30* MP0005025_abnormal_response_to2.08407856
31MP0002138_abnormal_hepatobiliary_system2.04505448
32* MP0002722_abnormal_immune_system1.99127486
33MP0004808_abnormal_hematopoietic_stem1.99044512
34MP0002163_abnormal_gland_morphology1.94916506
35MP0002148_abnormal_hypersensitivity_rea1.91105485
36MP0002933_joint_inflammation1.82691371
37MP0005645_abnormal_hypothalamus_physiol1.82538334
38* MP0002429_abnormal_blood_cell1.81871507
39MP0000372_irregular_coat_pigmentation1.81281866
40MP0003724_increased_susceptibility_to1.73382963
41MP0002419_abnormal_innate_immunity1.68850588
42MP0005076_abnormal_cell_differentiation1.62567048
43MP0001845_abnormal_inflammatory_respons1.61744126
44MP0004947_skin_inflammation1.59455002
45MP0004381_abnormal_hair_follicle1.57402942
46MP0010352_gastrointestinal_tract_polyps1.53376978
47MP0006082_CNS_inflammation1.49640559
48MP0005310_abnormal_salivary_gland1.49126262
49MP0005451_abnormal_body_composition1.46767704
50MP0008961_abnormal_basal_metabolism1.46121998
51MP0000465_gastrointestinal_hemorrhage1.43213779
52MP0001533_abnormal_skeleton_physiology1.36409944
53* MP0002166_altered_tumor_susceptibility1.27661652
54MP0000604_amyloidosis1.17836231
55MP0005075_abnormal_melanosome_morpholog1.11124685
56MP0000015_abnormal_ear_pigmentation1.08120557
57MP0000371_diluted_coat_color1.07813546
58MP0003045_fibrosis1.07783693
59MP0005464_abnormal_platelet_physiology1.06839177
60MP0005379_endocrine/exocrine_gland_phen1.04591274
61MP0000490_abnormal_crypts_of1.04474438
62MP0010307_abnormal_tumor_latency1.04448213
63MP0002019_abnormal_tumor_incidence1.02424553
64* MP0002006_tumorigenesis1.01887842
65MP0005397_hematopoietic_system_phenotyp0.96702835
66MP0001545_abnormal_hematopoietic_system0.96702835
67MP0002254_reproductive_system_inflammat0.94315133
68MP0001348_abnormal_lacrimal_gland0.94064802
69MP0003448_altered_tumor_morphology0.91167003
70MP0002998_abnormal_bone_remodeling0.89199334
71MP0008469_abnormal_protein_level0.88878408
72MP0005623_abnormal_meninges_morphology0.88120530
73MP0002139_abnormal_hepatobiliary_system0.87821349
74MP0001851_eye_inflammation0.87052994
75MP0003183_abnormal_peptide_metabolism0.84896974
76MP0001663_abnormal_digestive_system0.84888318
77MP0003077_abnormal_cell_cycle0.84471650
78MP0001881_abnormal_mammary_gland0.81552077
79MP0003693_abnormal_embryo_hatching0.81529269
80MP0001346_abnormal_lacrimal_gland0.81411172
81MP0005220_abnormal_exocrine_pancreas0.79241753
82MP0009278_abnormal_bone_marrow0.75250302
83MP0000350_abnormal_cell_proliferation0.75038209
84MP0000609_abnormal_liver_physiology0.68998164
85MP0000858_altered_metastatic_potential0.68360790
86MP0003795_abnormal_bone_structure0.67057321
87MP0002928_abnormal_bile_duct0.66291085
88MP0003091_abnormal_cell_migration0.65913791
89MP0010094_abnormal_chromosome_stability0.63972687
90MP0008058_abnormal_DNA_repair0.63618854
91MP0003453_abnormal_keratinocyte_physiol0.63350609
92MP0000313_abnormal_cell_death0.61614816
93MP0004957_abnormal_blastocyst_morpholog0.61599590
94MP0003221_abnormal_cardiomyocyte_apopto0.60633573
95MP0005390_skeleton_phenotype0.58294661
96MP0000627_abnormal_mammary_gland0.57686589
97MP0002009_preneoplasia0.57589956
98MP0004742_abnormal_vestibular_system0.57198363
99MP0005621_abnormal_cell_physiology0.56526285
100MP0009764_decreased_sensitivity_to0.56187333
101MP0009115_abnormal_fat_cell0.55321418
102MP0003868_abnormal_feces_composition0.55182955
103MP0002095_abnormal_skin_pigmentation0.55027388
104MP0003252_abnormal_bile_duct0.51974188
105MP0008872_abnormal_physiological_respon0.51743302
106MP0001216_abnormal_epidermal_layer0.51416417
107MP0002088_abnormal_embryonic_growth/wei0.50453777
108MP0009765_abnormal_xenobiotic_induced0.48716632
109MP0003984_embryonic_growth_retardation0.48689601
110MP0008007_abnormal_cellular_replicative0.48529713
111MP0008874_decreased_physiological_sensi0.48414049
112MP0002136_abnormal_kidney_physiology0.48208468
113MP0006035_abnormal_mitochondrial_morpho0.48119598
114MP0000477_abnormal_intestine_morphology0.47380677
115MP0005166_decreased_susceptibility_to0.47368145
116MP0001727_abnormal_embryo_implantation0.47343110
117MP0002693_abnormal_pancreas_physiology0.46056568
118MP0005023_abnormal_wound_healing0.45890464
119MP0003111_abnormal_nucleus_morphology0.45155385
120MP0002877_abnormal_melanocyte_morpholog0.45116050
121MP0000249_abnormal_blood_vessel0.44073394
122MP0009763_increased_sensitivity_to0.43951511
123MP0000367_abnormal_coat/_hair0.43271177
124MP0000733_abnormal_muscle_development0.42417628
125MP0000598_abnormal_liver_morphology0.42282071
126MP0004185_abnormal_adipocyte_glucose0.42173710
127MP0001915_intracranial_hemorrhage0.41305172

Predicted human phenotypes

RankGene SetZ-score
1Panhypogammaglobulinemia (HP:0003139)5.65299249
2T lymphocytopenia (HP:0005403)5.57940021
3Eczematoid dermatitis (HP:0000976)5.49527208
4Abnormality of T cell number (HP:0011839)5.44029535
5Stomatitis (HP:0010280)5.39757096
6Recurrent fungal infections (HP:0002841)5.31916778
7Recurrent viral infections (HP:0004429)5.07907842
8Severe combined immunodeficiency (HP:0004430)4.87177706
9Abnormality of B cell number (HP:0010975)4.71108543
10B lymphocytopenia (HP:0010976)4.71108543
11Abnormality of T cells (HP:0002843)4.30900385
12Chronic diarrhea (HP:0002028)4.24300579
13Combined immunodeficiency (HP:0005387)4.24092915
14Recurrent bronchitis (HP:0002837)4.14068319
15IgA deficiency (HP:0002720)4.00648741
16Gastrointestinal infarctions (HP:0005244)4.00230696
17Recurrent cutaneous fungal infections (HP:0011370)3.91823008
18Chronic mucocutaneous candidiasis (HP:0002728)3.91823008
19Agammaglobulinemia (HP:0004432)3.79925176
20Thrombocytosis (HP:0001894)3.79574688
21Mediastinal lymphadenopathy (HP:0100721)3.78827759
22Abnormal delayed hypersensitivity skin test (HP:0002963)3.77810475
23Elevated erythrocyte sedimentation rate (HP:0003565)3.66174573
24Increased density of long bones (HP:0006392)3.53849297
25Autoimmune hemolytic anemia (HP:0001890)3.53075228
26Fatigue (HP:0012378)3.52725074
27Inflammation of the large intestine (HP:0002037)3.51059943
28IgG deficiency (HP:0004315)3.49439183
29IgM deficiency (HP:0002850)3.43769882
30Gastrointestinal inflammation (HP:0004386)3.39803804
31Recurrent lower respiratory tract infections (HP:0002783)3.35342910
32Abnormality of the fingertips (HP:0001211)3.33319575
33Pulmonary infiltrates (HP:0002113)3.25173293
34Verrucae (HP:0200043)3.23620624
35Papilloma (HP:0012740)3.23620624
36Abnormality of T cell physiology (HP:0011840)3.22584964
37Gastrointestinal stroma tumor (HP:0100723)3.20795230
38Persistence of primary teeth (HP:0006335)3.07179719
39Myocardial infarction (HP:0001658)3.05608012
40Arterial thrombosis (HP:0004420)3.03555101
41Vasculitis (HP:0002633)3.02682766
42Encephalitis (HP:0002383)3.01270620
43Recurrent pneumonia (HP:0006532)2.92202836
44Meningitis (HP:0001287)2.88855718
45Chest pain (HP:0100749)2.88788893
46Chronic otitis media (HP:0000389)2.87965538
47Cellulitis (HP:0100658)2.87802614
48Lymphopenia (HP:0001888)2.84658354
49Viral hepatitis (HP:0006562)2.84547844
50Abnormality of cells of the lymphoid lineage (HP:0012140)2.84103416
51Nasal polyposis (HP:0100582)2.79299389
52Recurrent sinusitis (HP:0011108)2.78667943
53Lymphoma (HP:0002665)2.72488693
54Thyroiditis (HP:0100646)2.71710081
55Increased IgM level (HP:0003496)2.70388185
56Colitis (HP:0002583)2.67827109
57Abnormality of the prostate (HP:0008775)2.65995858
58Amaurosis fugax (HP:0100576)2.62409248
59Eosinophilia (HP:0001880)2.61019479
60Squamous cell carcinoma (HP:0002860)2.60807627
61Leukocytosis (HP:0001974)2.58927679
62Joint swelling (HP:0001386)2.49529194
63Increased IgE level (HP:0003212)2.48054438
64Xerostomia (HP:0000217)2.46271937
65Emphysema (HP:0002097)2.43762822
66Acute myeloid leukemia (HP:0004808)2.40671975
67Myositis (HP:0100614)2.39389726
68Abnormality of eosinophils (HP:0001879)2.39383475
69Recurrent skin infections (HP:0001581)2.38633297
70Hypertensive crisis (HP:0100735)2.37033972
71Pustule (HP:0200039)2.34912980
72Hemoptysis (HP:0002105)2.32744291
73Urticaria (HP:0001025)2.31761474
74Impaired proprioception (HP:0010831)2.31106253
75Acute hepatic failure (HP:0006554)2.29495692
76Skin rash (HP:0000988)2.28003853
77Bronchitis (HP:0012387)2.23922020
78Abnormality of the nasal mucosa (HP:0000433)2.23793216
79Recurrent otitis media (HP:0000403)2.22343246
80Retrobulbar optic neuritis (HP:0100654)2.20865547
81Optic neuritis (HP:0100653)2.20865547
82Granulocytopenia (HP:0001913)2.20322848
83Abnormality of the pleura (HP:0002103)2.20086694
84Autoimmune thrombocytopenia (HP:0001973)2.17803551
85Osteomyelitis (HP:0002754)2.17630856
86Chronic obstructive pulmonary disease (HP:0006510)2.16389228
87Obstructive lung disease (HP:0006536)2.16389228
88Basal cell carcinoma (HP:0002671)2.13253900
89Polycythemia (HP:0001901)2.13111662
90Bronchiectasis (HP:0002110)2.06817879
91Abnormality of male internal genitalia (HP:0000022)2.05921428
92Chronic sinusitis (HP:0011109)2.05419184
93Abnormal pancreas size (HP:0012094)2.02830432
94Gingival bleeding (HP:0000225)2.02100019
95Keratoconjunctivitis sicca (HP:0001097)2.01931366
96Recurrent abscess formation (HP:0002722)2.01030063
97Neutropenia (HP:0001875)2.01005632
98Pulmonary fibrosis (HP:0002206)1.99868301
99Hypoplasia of the thymus (HP:0000778)1.99834883
100Abnormality of macrophages (HP:0004311)1.98790570
101Spontaneous hematomas (HP:0007420)1.97305684
102Restrictive lung disease (HP:0002091)1.97230070
103Periodontitis (HP:0000704)1.97036786
104Peritonitis (HP:0002586)1.96453142
105Sepsis (HP:0100806)1.96266666
106Abnormality of the peritoneum (HP:0002585)1.92602562
107Cheilitis (HP:0100825)1.92416364
108Cutis marmorata (HP:0000965)1.91713462
109Gangrene (HP:0100758)1.91100719
110Villous atrophy (HP:0011473)1.90841514
111Abnormality of small intestinal villus morphology (HP:0011472)1.90841514
112Peripheral hypomyelination (HP:0007182)1.90212770
113Leukopenia (HP:0001882)1.89199104
114Acrocyanosis (HP:0001063)1.89142302
115Recurrent bacterial skin infections (HP:0005406)1.87518786
116Orchitis (HP:0100796)1.85226436
117Hypergammaglobulinemia (HP:0010702)1.84238948
118Arthralgia (HP:0002829)1.84014387
119Hepatitis (HP:0012115)1.82977466
120Keratoconjunctivitis (HP:0001096)1.82918271
121Skin ulcer (HP:0200042)1.82912702
122Poikiloderma (HP:0001029)1.81213780
123Carpal bone hypoplasia (HP:0001498)1.80162570
124Interstitial pulmonary disease (HP:0006530)1.78201313
125* Somatic mutation (HP:0001428)1.77371730
126Esophageal varix (HP:0002040)1.76831626
127Gingivitis (HP:0000230)1.74135063
128Entropion (HP:0000621)1.73095040
129Dysmetric saccades (HP:0000641)1.71847107

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K15.48505624
2PRPF4B4.80753080
3TXK4.04134916
4JAK33.76698194
5MAP3K143.48621844
6ZAP703.14682441
7SMG13.01253010
8MAP3K102.70416724
9EEF2K2.66891905
10IKBKB2.47156073
11CHUK2.44622585
12CDK122.41482730
13PIM22.17242376
14NEK92.13078901
15ITK2.07484055
16TAOK11.87406499
17TYK21.82125424
18FGFR41.74034697
19GRK61.66559238
20TSSK61.65092438
21TRIB31.64718845
22MAP3K111.64140592
23TAF11.58245035
24TEC1.57453584
25FGFR31.51655987
26MAP2K31.49940639
27SYK1.49633638
28STK101.49517013
29BMPR21.47777855
30EPHB11.45156202
31IKBKE1.44480538
32MAP3K71.43811511
33LCK1.43624128
34STK241.43102225
35EPHA31.42106642
36HCK1.41562863
37BTK1.40753088
38PIM11.39542348
39TBK11.37607527
40NLK1.36914780
41TAOK21.33112774
42TAOK31.29941115
43CSK1.29070159
44MAPK111.26176230
45ALK1.21311549
46RPS6KA41.21283613
47JAK11.19318510
48MAP3K31.12959548
49CCNB11.08386672
50BRD41.05764151
51MAP3K131.04866638
52LRRK21.01735764
53SIK20.96718284
54JAK20.92829091
55ERN10.88936467
56RAF10.88180525
57BLK0.85823447
58RPS6KA50.81879958
59PRKCQ0.80513233
60LYN0.80478376
61CDC70.79053634
62PASK0.78791192
63NME10.78342805
64MATK0.74708777
65RIPK40.74064391
66CDK40.73473160
67NME20.72899664
68MAP3K80.71114079
69PRKCI0.69539136
70CDK90.69168877
71FES0.68355297
72MAPK70.66643096
73CDC42BPA0.66328950
74CSF1R0.66090711
75MST40.64570392
76MAPK120.62185749
77PRKCH0.61720849
78PKN20.59573733
79BUB10.59250187
80CHEK10.58784727
81IRAK40.58442698
82RPS6KA10.58230935
83MAP3K10.57714506
84KIT0.56504298
85SIK30.56473255
86MAPK40.56441158
87RPS6KB20.55834758
88MTOR0.54056565
89PDGFRB0.54032567
90SIK10.53248955
91TGFBR10.52770476
92MAP3K50.52647269
93EIF2AK20.52082236
94MAP3K90.51721490
95PTK60.51589313
96HIPK20.51574771
97MELK0.50331795
98MAPKAPK20.50181948
99MAPKAPK50.49933897
100FGFR10.49472344
101PAK20.49223045
102CLK10.47853666
103CDK60.47307291
104EGFR0.46928598
105CAMK1G0.46283777
106RPS6KB10.45356396
107MARK30.45334464
108INSR0.42221934
109MARK20.41013041
110VRK20.40286544
111SCYL20.38527240
112FGR0.38459801
113MKNK20.37003130
114ABL10.36747387
115IRAK20.36343624
116CSNK1D0.34920114
117ATR0.34860319
118MKNK10.34138773
119IRAK10.33816573
120STK40.33349237
121EIF2AK30.33098458
122CDK190.32646436
123PDK10.32454309
124NEK10.32261410
125CDK70.32154445
126GSK3A0.31327207
127SGK30.29853863
128TGFBR20.29143407
129IRAK30.29054600
130YES10.28199950
131TLK10.27183244
132TRPM70.25053655
133DAPK30.24621330
134CAMKK10.23761558
135MAPK30.23010427
136NTRK20.22048421
137VRK10.20462081

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.92035351
2NF-kappa B signaling pathway_Homo sapiens_hsa040643.33476526
3Allograft rejection_Homo sapiens_hsa053303.20342837
4Inflammatory bowel disease (IBD)_Homo sapiens_hsa053213.20086059
5T cell receptor signaling pathway_Homo sapiens_hsa046603.17837504
6B cell receptor signaling pathway_Homo sapiens_hsa046622.49671364
7Measles_Homo sapiens_hsa051622.46564945
8Intestinal immune network for IgA production_Homo sapiens_hsa046722.43790802
9Graft-versus-host disease_Homo sapiens_hsa053322.40866867
10Type I diabetes mellitus_Homo sapiens_hsa049402.32665644
11Leishmaniasis_Homo sapiens_hsa051402.29457802
12Autoimmune thyroid disease_Homo sapiens_hsa053202.09992767
13Osteoclast differentiation_Homo sapiens_hsa043802.09280555
14Asthma_Homo sapiens_hsa053101.98412043
15Jak-STAT signaling pathway_Homo sapiens_hsa046301.95723576
16Acute myeloid leukemia_Homo sapiens_hsa052211.84292317
17NOD-like receptor signaling pathway_Homo sapiens_hsa046211.78080461
18RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.72698762
19Antigen processing and presentation_Homo sapiens_hsa046121.72262004
20Chronic myeloid leukemia_Homo sapiens_hsa052201.66888263
21Toxoplasmosis_Homo sapiens_hsa051451.66732064
22Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.66500481
23Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.62375841
24Herpes simplex infection_Homo sapiens_hsa051681.59330709
25Legionellosis_Homo sapiens_hsa051341.53163442
26Hematopoietic cell lineage_Homo sapiens_hsa046401.52036843
27TNF signaling pathway_Homo sapiens_hsa046681.50777923
28Prolactin signaling pathway_Homo sapiens_hsa049171.49822480
29Hepatitis B_Homo sapiens_hsa051611.45010354
30Viral myocarditis_Homo sapiens_hsa054161.44483885
31Toll-like receptor signaling pathway_Homo sapiens_hsa046201.42131022
32Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.38956225
33Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.38697822
34Viral carcinogenesis_Homo sapiens_hsa052031.30288312
35Epstein-Barr virus infection_Homo sapiens_hsa051691.27682196
36HTLV-I infection_Homo sapiens_hsa051661.26430602
37Influenza A_Homo sapiens_hsa051641.22972942
38AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.22470272
39Chemokine signaling pathway_Homo sapiens_hsa040621.19784780
40One carbon pool by folate_Homo sapiens_hsa006701.19731386
41Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.19282373
42Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.17110747
43Apoptosis_Homo sapiens_hsa042101.10913371
44Transcriptional misregulation in cancer_Homo sapiens_hsa052021.10355917
45Tuberculosis_Homo sapiens_hsa051521.08803424
46Shigellosis_Homo sapiens_hsa051311.08649651
47Pancreatic cancer_Homo sapiens_hsa052121.05830065
48Small cell lung cancer_Homo sapiens_hsa052220.99876920
49Adipocytokine signaling pathway_Homo sapiens_hsa049200.95961518
50Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.95569018
51DNA replication_Homo sapiens_hsa030300.92865537
52Neurotrophin signaling pathway_Homo sapiens_hsa047220.91208494
53Cyanoamino acid metabolism_Homo sapiens_hsa004600.87720271
54Hepatitis C_Homo sapiens_hsa051600.87482510
55Pertussis_Homo sapiens_hsa051330.87021789
56Spliceosome_Homo sapiens_hsa030400.85812585
57RNA transport_Homo sapiens_hsa030130.84681171
58Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.84243924
59Malaria_Homo sapiens_hsa051440.81218484
60MicroRNAs in cancer_Homo sapiens_hsa052060.78213548
61MAPK signaling pathway_Homo sapiens_hsa040100.72709210
62mRNA surveillance pathway_Homo sapiens_hsa030150.72266967
63Salmonella infection_Homo sapiens_hsa051320.65331290
64Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.64163287
65Insulin resistance_Homo sapiens_hsa049310.60918778
66Prostate cancer_Homo sapiens_hsa052150.60431815
67HIF-1 signaling pathway_Homo sapiens_hsa040660.58587338
68Leukocyte transendothelial migration_Homo sapiens_hsa046700.57617923
69Non-homologous end-joining_Homo sapiens_hsa034500.57026905
70VEGF signaling pathway_Homo sapiens_hsa043700.56197643
71RNA degradation_Homo sapiens_hsa030180.54690029
72Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.53705563
73Colorectal cancer_Homo sapiens_hsa052100.51974522
74Non-small cell lung cancer_Homo sapiens_hsa052230.49955836
75mTOR signaling pathway_Homo sapiens_hsa041500.49763273
76Renal cell carcinoma_Homo sapiens_hsa052110.49527025
77Mismatch repair_Homo sapiens_hsa034300.49032927
78Rheumatoid arthritis_Homo sapiens_hsa053230.47115651
79Cell cycle_Homo sapiens_hsa041100.46235339
80Homologous recombination_Homo sapiens_hsa034400.45706353
81Central carbon metabolism in cancer_Homo sapiens_hsa052300.45621105
82Systemic lupus erythematosus_Homo sapiens_hsa053220.40721044
83p53 signaling pathway_Homo sapiens_hsa041150.38432668
84Base excision repair_Homo sapiens_hsa034100.38299108
85Platelet activation_Homo sapiens_hsa046110.37900979
86African trypanosomiasis_Homo sapiens_hsa051430.37748978
87Thyroid hormone signaling pathway_Homo sapiens_hsa049190.37705611
88Proteasome_Homo sapiens_hsa030500.37029085
89Staphylococcus aureus infection_Homo sapiens_hsa051500.36378844
90Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.35623370
91Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.35156314
92FoxO signaling pathway_Homo sapiens_hsa040680.34694074
93Phagosome_Homo sapiens_hsa041450.34603945
94Lysine degradation_Homo sapiens_hsa003100.34241798
95Thyroid cancer_Homo sapiens_hsa052160.31838742
96Nucleotide excision repair_Homo sapiens_hsa034200.30788849
97Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.30053966
98Notch signaling pathway_Homo sapiens_hsa043300.28799543
99Longevity regulating pathway - mammal_Homo sapiens_hsa042110.26276157
100Sphingolipid signaling pathway_Homo sapiens_hsa040710.26119156
101Amoebiasis_Homo sapiens_hsa051460.25777502
102Type II diabetes mellitus_Homo sapiens_hsa049300.25730362
103Ribosome_Homo sapiens_hsa030100.25574124
104ErbB signaling pathway_Homo sapiens_hsa040120.25154816
105Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.23590695
106Pathways in cancer_Homo sapiens_hsa052000.23299991
107Fanconi anemia pathway_Homo sapiens_hsa034600.22980126
108N-Glycan biosynthesis_Homo sapiens_hsa005100.22310180
109Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.22165383
110Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.21756021
111Bladder cancer_Homo sapiens_hsa052190.20802594
112Endometrial cancer_Homo sapiens_hsa052130.19371932
113Proteoglycans in cancer_Homo sapiens_hsa052050.19006315
114Phosphatidylinositol signaling system_Homo sapiens_hsa040700.17641309
115Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.15036235
116Glioma_Homo sapiens_hsa052140.09145980
117Inositol phosphate metabolism_Homo sapiens_hsa005620.08160771

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