IL21R

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





Description: The protein encoded by this gene is a cytokine receptor for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of gamma-delta T cell activation (GO:0046645)6.75482210
2antigen processing and presentation of endogenous antigen (GO:0019883)5.99608329
3antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.87034197
4antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.87034197
5regulation of gamma-delta T cell differentiation (GO:0045586)5.61830652
6negative T cell selection (GO:0043383)5.61716595
7negative thymic T cell selection (GO:0045060)5.53335014
8CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)5.35340209
9positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)5.32998865
10regulation of gamma-delta T cell activation (GO:0046643)5.22762351
11regulation of B cell receptor signaling pathway (GO:0050855)5.15170682
12positive regulation of interleukin-2 biosynthetic process (GO:0045086)5.09872143
13positive thymic T cell selection (GO:0045059)5.05415169
14antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.03995528
15regulation of interleukin-12 biosynthetic process (GO:0045075)4.76061414
16thymic T cell selection (GO:0045061)4.58801187
17interferon-gamma production (GO:0032609)4.56567153
18negative regulation of cell killing (GO:0031342)4.51967889
19negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.51967889
20positive T cell selection (GO:0043368)4.47747632
21T cell selection (GO:0045058)4.44656570
22regulation of B cell differentiation (GO:0045577)4.38836856
23B cell receptor signaling pathway (GO:0050853)4.36026359
24* response to interleukin-15 (GO:0070672)4.31287279
25T cell migration (GO:0072678)4.26689725
26NIK/NF-kappaB signaling (GO:0038061)4.23814081
27regulation of isotype switching to IgG isotypes (GO:0048302)4.18926461
28regulation of T cell tolerance induction (GO:0002664)4.17696199
29positive regulation of B cell differentiation (GO:0045579)4.08727378
30tolerance induction (GO:0002507)4.05474954
31regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)4.03038471
32positive regulation of interleukin-2 production (GO:0032743)4.01663451
33leukocyte aggregation (GO:0070486)3.98740943
34negative regulation of T cell mediated immunity (GO:0002710)3.98174960
35regulation of interleukin-2 biosynthetic process (GO:0045076)3.92272515
36regulation of alpha-beta T cell proliferation (GO:0046640)3.91907158
37positive regulation by symbiont of host defense response (GO:0052509)3.89382540
38modulation by symbiont of host defense response (GO:0052031)3.89382540
39modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.89382540
40modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.89382540
41positive regulation by organism of defense response of other organism involved in symbiotic interact3.89382540
42modulation by symbiont of host immune response (GO:0052553)3.89382540
43regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.88454636
44antigen receptor-mediated signaling pathway (GO:0050851)3.82007558
45T cell lineage commitment (GO:0002360)3.73878007
46T cell receptor signaling pathway (GO:0050852)3.72992537
47B cell proliferation (GO:0042100)3.64601146
48mast cell activation (GO:0045576)3.62972809
49mature B cell differentiation (GO:0002335)3.62393215
50response to type I interferon (GO:0034340)3.62382990
51regulation of T cell receptor signaling pathway (GO:0050856)3.61794793
52T cell costimulation (GO:0031295)3.61721807
53type I interferon signaling pathway (GO:0060337)3.59869582
54cellular response to type I interferon (GO:0071357)3.59869582
55* cellular response to interleukin-15 (GO:0071350)3.57743469
56lymphocyte costimulation (GO:0031294)3.57119311
57myeloid dendritic cell activation (GO:0001773)3.56948086
58positive regulation of alpha-beta T cell proliferation (GO:0046641)3.51380879
59JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)3.51200711
60defense response to protozoan (GO:0042832)3.49379757
61T cell homeostasis (GO:0043029)3.45396679
62B cell mediated immunity (GO:0019724)3.44396012
63interferon-gamma-mediated signaling pathway (GO:0060333)3.43968935
64positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.41784709
65antigen processing and presentation via MHC class Ib (GO:0002475)3.41540953
66cellular response to zinc ion (GO:0071294)3.41452873
67positive regulation of isotype switching (GO:0045830)3.40125784
68immunoglobulin mediated immune response (GO:0016064)3.37827052
69myeloid dendritic cell differentiation (GO:0043011)3.34976380
70lymphocyte homeostasis (GO:0002260)3.33194786
71negative regulation of lymphocyte mediated immunity (GO:0002707)3.32958062
72regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.32902604
73regulation of B cell proliferation (GO:0030888)3.28796671
74regulation of T cell mediated cytotoxicity (GO:0001914)3.27743940
75regulation of dendritic cell antigen processing and presentation (GO:0002604)3.27365559
76negative regulation of interleukin-12 production (GO:0032695)3.27341069
77regulation of interferon-gamma biosynthetic process (GO:0045072)3.27229734
78regulation of CD4-positive, alpha-beta T cell activation (GO:2000514)3.25788048
79regulation of interferon-beta biosynthetic process (GO:0045357)3.25294852
80response to protozoan (GO:0001562)3.24387984
81regulation of regulatory T cell differentiation (GO:0045589)3.24079653
82regulation of antigen processing and presentation (GO:0002577)3.21945391
83positive regulation of antigen processing and presentation (GO:0002579)3.21155648
84detection of bacterium (GO:0016045)3.20917622
85regulation of interleukin-2 production (GO:0032663)3.20354808
86regulation of tolerance induction (GO:0002643)3.19997329
87positive regulation of humoral immune response (GO:0002922)3.18638026
88regulation of response to interferon-gamma (GO:0060330)3.17725443
89positive regulation of T cell mediated cytotoxicity (GO:0001916)3.17650637
90positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)3.17011155
91T-helper 1 type immune response (GO:0042088)3.15261998
92Arp2/3 complex-mediated actin nucleation (GO:0034314)3.13957908
93activated T cell proliferation (GO:0050798)3.13147244
94regulation of T-helper 1 cell differentiation (GO:0045625)3.11534844
95regulation of type I interferon-mediated signaling pathway (GO:0060338)3.11415789
96positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.11346280
97response to muramyl dipeptide (GO:0032495)3.11096014
98regulation of interferon-gamma-mediated signaling pathway (GO:0060334)3.10766843
99B cell homeostasis (GO:0001782)3.08860676
100lymph node development (GO:0048535)3.07054609
101regulation of B cell mediated immunity (GO:0002712)3.07025744
102cellular response to interferon-gamma (GO:0071346)3.06823599
103germinal center formation (GO:0002467)3.06379572
104negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)3.06371294
105cellular response to interferon-beta (GO:0035458)3.05427529
106macrophage activation involved in immune response (GO:0002281)3.04872681
107leukocyte homeostasis (GO:0001776)3.04850847
108positive regulation of interferon-alpha production (GO:0032727)3.04249812
109cytidine deamination (GO:0009972)3.03754607
110cytidine metabolic process (GO:0046087)3.03754607
111cytidine catabolic process (GO:0006216)3.03754607
112positive regulation of tolerance induction (GO:0002645)3.03471999
113negative regulation of alpha-beta T cell activation (GO:0046636)3.01308948
114positive regulation of DNA recombination (GO:0045911)3.01289319
115regulation of immunoglobulin mediated immune response (GO:0002889)2.99607518
116regulation of natural killer cell mediated immunity (GO:0002715)2.98794703
117regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.98794703
118positive regulation of natural killer cell mediated immunity (GO:0002717)2.97693574
119positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)2.97693574
120regulation of isotype switching (GO:0045191)2.96818483
121positive regulation of B cell activation (GO:0050871)2.95390904
122regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)2.94269013
123immune response-activating cell surface receptor signaling pathway (GO:0002429)2.93450884
124positive regulation of natural killer cell differentiation (GO:0032825)2.92946958
125mast cell activation involved in immune response (GO:0002279)2.92699919
126mast cell degranulation (GO:0043303)2.92699919
127T cell proliferation (GO:0042098)2.90790861
128mature B cell differentiation involved in immune response (GO:0002313)2.89839284
129alpha-beta T cell activation (GO:0046631)2.88971936
130positive regulation of B cell proliferation (GO:0030890)2.88673445
131regulation of B cell activation (GO:0050864)2.87649809
132positive regulation of immunoglobulin mediated immune response (GO:0002891)2.87534392
133positive regulation of B cell mediated immunity (GO:0002714)2.87534392
134regulation of alpha-beta T cell activation (GO:0046634)2.87376172
135positive regulation of cytokine biosynthetic process (GO:0042108)2.86718221

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse6.51746208
2IRF8_22096565_ChIP-ChIP_GC-B_Human5.54851874
3STAT6_20620947_ChIP-Seq_CD4_POS_T_Human5.10972072
4IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.59694168
5IRF8_21731497_ChIP-ChIP_J774_Mouse3.90870587
6* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.56678227
7IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.49297455
8SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.48981148
9* STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.42504903
10* MYC_22102868_ChIP-Seq_BL_Human3.29404070
11STAT4_19710469_ChIP-ChIP_TH1__Mouse3.25114224
12BP1_19119308_ChIP-ChIP_Hs578T_Human3.15973561
13* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse3.11135207
14* RUNX_20019798_ChIP-Seq_JUKART_Human3.07737788
15MYB_26560356_Chip-Seq_TH2_Human2.96011690
16* IRF8_27001747_Chip-Seq_BMDM_Mouse2.88339677
17E2F7_22180533_ChIP-Seq_HELA_Human2.81822230
18FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.81750071
19SCL_19346495_ChIP-Seq_HPC-7_Human2.70094473
20SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.68878339
21* MAF_26560356_Chip-Seq_TH1_Human2.65579021
22VDR_21846776_ChIP-Seq_THP-1_Human2.64902683
23EGR1_19374776_ChIP-ChIP_THP-1_Human2.61150189
24* MYB_26560356_Chip-Seq_TH1_Human2.53875503
25NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.51227041
26* NOTCH1_21737748_ChIP-Seq_TLL_Human2.47906557
27SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.47435116
28* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.41654968
29* SPI1_23547873_ChIP-Seq_NB4_Human2.31286714
30MYB_21317192_ChIP-Seq_ERMYB_Mouse2.29240912
31UTX_26944678_Chip-Seq_JUKART_Human2.27111558
32VDR_24763502_ChIP-Seq_THP-1_Human2.11229951
33RUNX1_22412390_ChIP-Seq_EML_Mouse2.07540751
34ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.03515141
35* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.02507754
36FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.01918791
37NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.98506057
38ELF1_17652178_ChIP-ChIP_JURKAT_Human1.87113616
39TCF7_22412390_ChIP-Seq_EML_Mouse1.86258095
40RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.79424932
41* MAF_26560356_Chip-Seq_TH2_Human1.78937925
42BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.77664499
43* MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.76286239
44* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.73298379
45* GATA3_27048872_Chip-Seq_THYMUS_Human1.72631431
46TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.69929130
47KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.62096025
48SPI1_23127762_ChIP-Seq_K562_Human1.60985205
49NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.58032144
50* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.55825027
51* VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.49624482
52LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.44812082
53LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.42655601
54PU_27001747_Chip-Seq_BMDM_Mouse1.38590363
55GATA2_22383799_ChIP-Seq_G1ME_Mouse1.37200602
56KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.34766393
57CIITA_25753668_ChIP-Seq_RAJI_Human1.34114368
58KDM2B_26808549_Chip-Seq_DND41_Human1.32484516
59SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.28957371
60CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.24795539
61* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.24486911
62* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.23049987
63GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.22965189
64* GATA3_26560356_Chip-Seq_TH2_Human1.21137977
65PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.17478768
66HOXB4_20404135_ChIP-ChIP_EML_Mouse1.17248553
67GATA1_22025678_ChIP-Seq_K562_Human1.15041979
68VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.13875468
69GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.13646903
70PU.1_20513432_ChIP-Seq_Bcells_Mouse1.10814556
71CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.10171413
72* VDR_23849224_ChIP-Seq_CD4+_Human1.10055699
73SMRT_27268052_Chip-Seq_Bcells_Human1.07974648
74* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.07967782
75RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.07963355
76TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.07220214
77SMAD_19615063_ChIP-ChIP_OVARY_Human1.04682012
78ELK3_25401928_ChIP-Seq_HUVEC_Human1.04179297
79SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.01507688
80STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.00881298
81FOXP3_21729870_ChIP-Seq_TREG_Human1.00008753
82CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.98967333
83GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95442311
84EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.95263089
85BCL6_27268052_Chip-Seq_Bcells_Human0.94469592
86GATA1_19941827_ChIP-Seq_MEL_Mouse0.93822223
87NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.92842494
88CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.92471521
89* GATA3_26560356_Chip-Seq_TH1_Human0.91508629
90* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.90619551
91CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.90497606
92PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.89737658
93IRF1_19129219_ChIP-ChIP_H3396_Human0.88209625
94VDR_24787735_ChIP-Seq_THP-1_Human0.86878824
95PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.83974644
96PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.82947916
97BCOR_27268052_Chip-Seq_Bcells_Human0.80901670
98EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.80485880
99THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.80146710
100* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79923889
101FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.79592088
102P300_27268052_Chip-Seq_Bcells_Human0.77130874
103KDM2B_26808549_Chip-Seq_JURKAT_Human0.76222921
104ELK1_19687146_ChIP-ChIP_HELA_Human0.75282745
105EGR1_23403033_ChIP-Seq_LIVER_Mouse0.74340241
106ELF1_20517297_ChIP-Seq_JURKAT_Human0.73360190
107IKZF1_21737484_ChIP-ChIP_HCT116_Human0.73307793
108* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.72195312
109STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.71612622
110TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.71519893
111ETS1_22383799_ChIP-Seq_G1ME_Mouse0.71095403
112SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.69734407
113NCOR1_26117541_ChIP-Seq_K562_Human0.69115257
114E2F4_17652178_ChIP-ChIP_JURKAT_Human0.68710567

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.71745131
2MP0005671_abnormal_response_to4.07859780
3* MP0003763_abnormal_thymus_physiology3.79438316
4* MP0001800_abnormal_humoral_immune3.68827278
5* MP0000685_abnormal_immune_system3.55360378
6* MP0001790_abnormal_immune_system3.48164872
7* MP0005387_immune_system_phenotype3.48164872
8* MP0005000_abnormal_immune_tolerance3.24670446
9MP0009785_altered_susceptibility_to3.10458380
10* MP0002452_abnormal_antigen_presenting3.10394229
11* MP0002723_abnormal_immune_serum3.07415213
12* MP0002420_abnormal_adaptive_immunity2.94924696
13MP0003436_decreased_susceptibility_to2.93369091
14* MP0001819_abnormal_immune_cell2.91139650
15* MP0002398_abnormal_bone_marrow2.74457716
16* MP0005025_abnormal_response_to2.68607998
17MP0002166_altered_tumor_susceptibility2.68492642
18MP0002396_abnormal_hematopoietic_system2.65195337
19* MP0002148_abnormal_hypersensitivity_rea2.63157703
20* MP0000716_abnormal_immune_system2.48464163
21MP0006082_CNS_inflammation2.40796211
22MP0002405_respiratory_system_inflammati2.38939071
23MP0002419_abnormal_innate_immunity2.38931354
24MP0002006_tumorigenesis2.30714141
25MP0003303_peritoneal_inflammation2.30360618
26MP0004510_myositis2.27483542
27MP0000689_abnormal_spleen_morphology2.27172876
28MP0009333_abnormal_splenocyte_physiolog2.24297060
29MP0001873_stomach_inflammation2.17438206
30* MP0002722_abnormal_immune_system2.15079846
31MP0010155_abnormal_intestine_physiology2.13626840
32MP0000703_abnormal_thymus_morphology2.04158468
33* MP0002429_abnormal_blood_cell2.03874553
34MP0005464_abnormal_platelet_physiology2.01495874
35MP0003724_increased_susceptibility_to1.91171451
36MP0001853_heart_inflammation1.89668554
37MP0004947_skin_inflammation1.89002341
38MP0003866_abnormal_defecation1.87601245
39* MP0001845_abnormal_inflammatory_respons1.79621719
40MP0005645_abnormal_hypothalamus_physiol1.75124715
41MP0002933_joint_inflammation1.75033701
42MP0005310_abnormal_salivary_gland1.73276791
43MP0003300_gastrointestinal_ulcer1.71696344
44MP0004808_abnormal_hematopoietic_stem1.66781792
45MP0005174_abnormal_tail_pigmentation1.47216239
46MP0000465_gastrointestinal_hemorrhage1.33880252
47MP0001533_abnormal_skeleton_physiology1.30158616
48MP0008469_abnormal_protein_level1.30090779
49MP0002138_abnormal_hepatobiliary_system1.24230883
50MP0000490_abnormal_crypts_of1.24084913
51MP0005397_hematopoietic_system_phenotyp1.21436229
52MP0001545_abnormal_hematopoietic_system1.21436229
53MP0008057_abnormal_DNA_replication1.15880595
54MP0005075_abnormal_melanosome_morpholog1.13770893
55MP0003172_abnormal_lysosome_physiology1.07854671
56MP0000858_altered_metastatic_potential1.07737948
57MP0000015_abnormal_ear_pigmentation1.03666198
58MP0001851_eye_inflammation0.98883336
59MP0003448_altered_tumor_morphology0.96164966
60MP0002019_abnormal_tumor_incidence0.94634714
61MP0001348_abnormal_lacrimal_gland0.94555065
62MP0005451_abnormal_body_composition0.91141377
63MP0002009_preneoplasia0.88226665
64MP0009278_abnormal_bone_marrow0.87510545
65MP0002998_abnormal_bone_remodeling0.86744970
66MP0002277_abnormal_respiratory_mucosa0.85367820
67MP0005379_endocrine/exocrine_gland_phen0.85325377
68MP0002095_abnormal_skin_pigmentation0.85070211
69MP0002132_abnormal_respiratory_system0.83916879
70MP0009764_decreased_sensitivity_to0.81204202
71MP0000372_irregular_coat_pigmentation0.81192063
72MP0003183_abnormal_peptide_metabolism0.77396462
73MP0004381_abnormal_hair_follicle0.76543981
74MP0005058_abnormal_lysosome_morphology0.74423113
75MP0008007_abnormal_cellular_replicative0.73620047
76MP0002163_abnormal_gland_morphology0.69838486
77MP0009763_increased_sensitivity_to0.66912498
78MP0003191_abnormal_cellular_cholesterol0.66872665
79MP0003646_muscle_fatigue0.66796334
80MP0008872_abnormal_physiological_respon0.64988848
81MP0003077_abnormal_cell_cycle0.63943115
82MP0001663_abnormal_digestive_system0.62920056
83MP0010352_gastrointestinal_tract_polyps0.60128002
84MP0002136_abnormal_kidney_physiology0.59947049
85MP0008058_abnormal_DNA_repair0.59881878
86MP0002139_abnormal_hepatobiliary_system0.59705338
87MP0009765_abnormal_xenobiotic_induced0.58225802
88MP0010094_abnormal_chromosome_stability0.55109286
89MP0001919_abnormal_reproductive_system0.53386936
90MP0000609_abnormal_liver_physiology0.53198880
91MP0003693_abnormal_embryo_hatching0.53170897
92MP0005390_skeleton_phenotype0.53093443
93MP0008961_abnormal_basal_metabolism0.50833241
94MP0000371_diluted_coat_color0.50417335
95MP0008877_abnormal_DNA_methylation0.50176163
96MP0000249_abnormal_blood_vessel0.50109461
97MP0000313_abnormal_cell_death0.49584049
98MP0008874_decreased_physiological_sensi0.49546693
99MP0002928_abnormal_bile_duct0.48346191
100MP0003045_fibrosis0.48008351
101MP0004742_abnormal_vestibular_system0.47775341
102MP0003828_pulmonary_edema0.47437731
103MP0002254_reproductive_system_inflammat0.47437117
104MP0003795_abnormal_bone_structure0.47150206
105MP0005166_decreased_susceptibility_to0.46841982
106MP0009840_abnormal_foam_cell0.46784623
107MP0006035_abnormal_mitochondrial_morpho0.46157064
108MP0000343_altered_response_to0.45900868
109MP0001191_abnormal_skin_condition0.45819582
110MP0001986_abnormal_taste_sensitivity0.45512876
111MP0000477_abnormal_intestine_morphology0.45454760
112MP0003091_abnormal_cell_migration0.45307395
113MP0000604_amyloidosis0.45275599
114MP0002693_abnormal_pancreas_physiology0.44418110
115MP0005167_abnormal_blood-brain_barrier0.44362209
116MP0005647_abnormal_sex_gland0.43532228
117MP0000569_abnormal_digit_pigmentation0.41508988
118MP0003453_abnormal_keratinocyte_physiol0.39621261

Predicted human phenotypes

RankGene SetZ-score
1Elevated erythrocyte sedimentation rate (HP:0003565)5.16513139
2Recurrent bronchitis (HP:0002837)4.92319168
3IgM deficiency (HP:0002850)4.87426529
4Recurrent fungal infections (HP:0002841)4.83624672
5T lymphocytopenia (HP:0005403)4.78878892
6Chronic otitis media (HP:0000389)4.78350818
7Recurrent viral infections (HP:0004429)4.75872321
8Abnormality of T cell number (HP:0011839)4.75165551
9Eczematoid dermatitis (HP:0000976)4.74735427
10Panhypogammaglobulinemia (HP:0003139)4.73010288
11Abnormal delayed hypersensitivity skin test (HP:0002963)4.71194174
12Agammaglobulinemia (HP:0004432)4.56030622
13Recurrent abscess formation (HP:0002722)4.53439966
14Myositis (HP:0100614)4.44827468
15Chronic mucocutaneous candidiasis (HP:0002728)4.44044877
16Recurrent cutaneous fungal infections (HP:0011370)4.44044877
17Stomatitis (HP:0010280)4.41091156
18Abnormality of T cells (HP:0002843)4.23887861
19Recurrent bacterial skin infections (HP:0005406)4.03359428
20IgG deficiency (HP:0004315)3.97365179
21Inflammation of the large intestine (HP:0002037)3.91599822
22Meningitis (HP:0001287)3.85754736
23Lymphopenia (HP:0001888)3.80324237
24Nasal polyposis (HP:0100582)3.77132945
25Gastrointestinal inflammation (HP:0004386)3.75337340
26Vasculitis (HP:0002633)3.74642254
27Gastrointestinal stroma tumor (HP:0100723)3.69937340
28Abnormality of cells of the lymphoid lineage (HP:0012140)3.68680589
29Recurrent skin infections (HP:0001581)3.65266248
30Mediastinal lymphadenopathy (HP:0100721)3.61630043
31Severe combined immunodeficiency (HP:0004430)3.61479592
32Abnormality of T cell physiology (HP:0011840)3.59281610
33B lymphocytopenia (HP:0010976)3.44995170
34Abnormality of B cell number (HP:0010975)3.44995170
35Thyroiditis (HP:0100646)3.44780088
36Colitis (HP:0002583)3.44390083
37Thrombocytosis (HP:0001894)3.41384475
38Cellulitis (HP:0100658)3.36106825
39Combined immunodeficiency (HP:0005387)3.32361964
40Retrobulbar optic neuritis (HP:0100654)3.29550858
41Optic neuritis (HP:0100653)3.29550858
42Abnormality of the nasal mucosa (HP:0000433)3.22958814
43Chronic obstructive pulmonary disease (HP:0006510)3.22708861
44Obstructive lung disease (HP:0006536)3.22708861
45Abnormality of eosinophils (HP:0001879)3.11807177
46Eosinophilia (HP:0001880)3.10503466
47Orchitis (HP:0100796)3.09213420
48IgA deficiency (HP:0002720)3.06701063
49Chronic sinusitis (HP:0011109)3.05399183
50Pustule (HP:0200039)2.99737007
51Abnormality of the fingertips (HP:0001211)2.98278370
52Autoimmune thrombocytopenia (HP:0001973)2.97814744
53Spontaneous hematomas (HP:0007420)2.94573147
54Increased IgM level (HP:0003496)2.92277169
55Leukocytosis (HP:0001974)2.91483014
56Pulmonary infiltrates (HP:0002113)2.88567712
57* Recurrent sinusitis (HP:0011108)2.87931712
58Encephalitis (HP:0002383)2.85229428
59Increased IgE level (HP:0003212)2.82899251
60Granulocytopenia (HP:0001913)2.80729087
61Lymphoma (HP:0002665)2.79581718
62Emphysema (HP:0002097)2.79003199
63Hemoptysis (HP:0002105)2.76585737
64* Chronic diarrhea (HP:0002028)2.74383707
65Basal cell carcinoma (HP:0002671)2.69676426
66Autoimmune hemolytic anemia (HP:0001890)2.68454425
67Bronchitis (HP:0012387)2.66591443
68Abnormality of macrophages (HP:0004311)2.63999861
69Hypergammaglobulinemia (HP:0010702)2.63017712
70Papilloma (HP:0012740)2.56236165
71Verrucae (HP:0200043)2.56236165
72Interstitial pulmonary disease (HP:0006530)2.50288573
73Recurrent gram-negative bacterial infections (HP:0005420)2.49035294
74Arterial thrombosis (HP:0004420)2.48032304
75Urticaria (HP:0001025)2.45163857
76Recurrent pneumonia (HP:0006532)2.41364519
77Prolonged bleeding time (HP:0003010)2.41300745
78Recurrent lower respiratory tract infections (HP:0002783)2.39854415
79Chest pain (HP:0100749)2.39241649
80Abnormality of the pleura (HP:0002103)2.35859900
81Gastrointestinal infarctions (HP:0005244)2.34607509
82Gingivitis (HP:0000230)2.29560883
83Epistaxis (HP:0000421)2.29525443
84Joint swelling (HP:0001386)2.29013367
85Viral hepatitis (HP:0006562)2.27806570
86Osteomyelitis (HP:0002754)2.26831848
87Cheilitis (HP:0100825)2.25939747
88Gingival bleeding (HP:0000225)2.24281055
89Skin rash (HP:0000988)2.22391566
90Restrictive lung disease (HP:0002091)2.20554000
91Petechiae (HP:0000967)2.20461277
92Abnormality of the prostate (HP:0008775)2.19454428
93Keratoconjunctivitis sicca (HP:0001097)2.15851912
94Periodontitis (HP:0000704)2.12442729
95Gangrene (HP:0100758)2.12102935
96Amaurosis fugax (HP:0100576)2.11502122
97Skin ulcer (HP:0200042)2.11372014
98Hypoplasia of the thymus (HP:0000778)2.09651179
99Sepsis (HP:0100806)2.08527385
100Leukopenia (HP:0001882)2.03928362
101Acute hepatic failure (HP:0006554)2.02432392
102Pulmonary embolism (HP:0002204)2.01517607
103Arthralgia (HP:0002829)2.01194766
104Keratoconjunctivitis (HP:0001096)1.98510945
105Squamous cell carcinoma (HP:0002860)1.97631178
106Fatigue (HP:0012378)1.97058521
107Neutropenia (HP:0001875)1.96994267
108Abnormality of male internal genitalia (HP:0000022)1.93785749
109Recurrent otitis media (HP:0000403)1.93755397
110Hematochezia (HP:0002573)1.93049572
111Hypertensive crisis (HP:0100735)1.90793423
112Pulmonary fibrosis (HP:0002206)1.89892117
113Anorexia (HP:0002039)1.85149916
114Keratitis (HP:0000491)1.84741532
115Prostate neoplasm (HP:0100787)1.84667786
116Stomach cancer (HP:0012126)1.77773699

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K15.95880230
2TXK3.94681401
3JAK33.08151244
4MAP3K142.98943104
5PRPF4B2.97565580
6TYK22.87211794
7KIT2.63036579
8BLK2.59448724
9ITK2.46226603
10IKBKE2.45969211
11ZAP702.42564060
12CSF1R2.21701568
13TBK12.21672961
14BTK2.13282238
15IRAK42.12353684
16TEC2.07508312
17PASK2.02238291
18SYK1.99224098
19IKBKB1.95085960
20STK101.93556742
21JAK11.92898886
22FGFR41.92508492
23GRK61.84849125
24NLK1.82867138
25LCK1.77447290
26MAP3K131.71046675
27SMG11.58675638
28TGFBR21.56061823
29TLK11.53564503
30HCK1.53295280
31NME21.47822954
32FLT31.44378033
33SIK31.38765194
34RIPK41.35822474
35CLK11.35137514
36CSK1.33667872
37MAP3K101.33374720
38MST41.33220809
39CHUK1.30646570
40FGFR31.29600913
41SIK21.25716815
42LYN1.25231625
43EEF2K1.15802529
44EPHB11.12612001
45FES1.12356225
46IRAK31.11111145
47PIM11.10405796
48ZAK1.06444698
49ERN11.03951459
50EPHA31.03378785
51MARK31.02023749
52LRRK21.01713276
53RPS6KA40.99543655
54FRK0.97725000
55PRKCQ0.97130097
56ADRBK20.92420766
57PIM20.85721402
58FGR0.80982135
59JAK20.80019866
60MAP2K30.77322138
61VRK10.77259565
62TNK20.75675002
63STK240.75199534
64CAMKK10.73153390
65PRKCH0.70348676
66MAPKAPK30.69743600
67KDR0.68601735
68TGFBR10.61638069
69IRAK10.60168928
70CAMKK20.60048256
71TAF10.56082528
72CDC42BPA0.54650039
73CDK120.54581378
74RPS6KA50.54122652
75HIPK20.52616864
76MAP3K70.49706659
77STK40.47866698
78TAOK20.47599147
79CDK40.45114549
80BRD40.43540132
81CCNB10.39929889
82BMPR20.37999476
83ABL10.37522190
84SIK10.37427331
85TAOK30.37351309
86PDK10.34588991
87NEK90.34044204
88ALK0.34024856
89MAPK70.33783918
90PKN20.31538648
91TSSK60.31478706
92ACVR1B0.31292465
93PRKD20.30796718
94MAPKAPK20.30631189
95MELK0.30184379
96TNIK0.29187811
97PRKCD0.28895204
98PIK3CG0.28791255
99INSR0.28148691
100NUAK10.28101750
101RPS6KA60.27451921
102MAPK40.26603072
103MAP2K20.25990923
104MAP3K10.25567864
105MAPK30.25440387
106EGFR0.25164286
107MAPK120.25094299
108FYN0.24790406
109MAP2K60.24616058
110PDPK10.24587900
111EIF2AK30.23811070
112CDK90.23222332
113IGF1R0.23082596
114TESK20.21633530
115MARK20.21623275
116GRK70.21235616
117MAPK110.20429544
118MAP3K110.19004488
119MATK0.18613728
120MAP3K50.18586248
121YES10.18110462
122MAP3K80.17651429

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053404.86152989
2NF-kappa B signaling pathway_Homo sapiens_hsa040642.96922974
3B cell receptor signaling pathway_Homo sapiens_hsa046622.84418476
4Intestinal immune network for IgA production_Homo sapiens_hsa046722.82538190
5T cell receptor signaling pathway_Homo sapiens_hsa046602.68599619
6Measles_Homo sapiens_hsa051622.65751927
7* Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.63401179
8Allograft rejection_Homo sapiens_hsa053302.54051749
9Leishmaniasis_Homo sapiens_hsa051402.51995187
10Antigen processing and presentation_Homo sapiens_hsa046122.39936530
11Osteoclast differentiation_Homo sapiens_hsa043802.36043926
12Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.31196210
13Graft-versus-host disease_Homo sapiens_hsa053322.26399260
14Hematopoietic cell lineage_Homo sapiens_hsa046402.17788039
15Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.02820476
16Systemic lupus erythematosus_Homo sapiens_hsa053222.01364143
17RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.99656294
18Herpes simplex infection_Homo sapiens_hsa051681.80677733
19* Jak-STAT signaling pathway_Homo sapiens_hsa046301.80242344
20Toll-like receptor signaling pathway_Homo sapiens_hsa046201.75298649
21NOD-like receptor signaling pathway_Homo sapiens_hsa046211.66809075
22Autoimmune thyroid disease_Homo sapiens_hsa053201.54476592
23Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.51958289
24Toxoplasmosis_Homo sapiens_hsa051451.50671978
25Chemokine signaling pathway_Homo sapiens_hsa040621.47430136
26Acute myeloid leukemia_Homo sapiens_hsa052211.47238925
27Influenza A_Homo sapiens_hsa051641.43876258
28Viral myocarditis_Homo sapiens_hsa054161.38986909
29Hepatitis B_Homo sapiens_hsa051611.36331374
30TNF signaling pathway_Homo sapiens_hsa046681.33583929
31Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.31772191
32Shigellosis_Homo sapiens_hsa051311.31587068
33Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.31010728
34* Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.30955597
35Legionellosis_Homo sapiens_hsa051341.28144277
36Type I diabetes mellitus_Homo sapiens_hsa049401.23582540
37Tuberculosis_Homo sapiens_hsa051521.21755051
38Ribosome_Homo sapiens_hsa030101.17663244
39Apoptosis_Homo sapiens_hsa042101.16507323
40Pertussis_Homo sapiens_hsa051331.10890960
41Leukocyte transendothelial migration_Homo sapiens_hsa046701.10740366
42Malaria_Homo sapiens_hsa051441.09488618
43Epstein-Barr virus infection_Homo sapiens_hsa051691.05107036
44Asthma_Homo sapiens_hsa053101.03980819
45Transcriptional misregulation in cancer_Homo sapiens_hsa052021.03090122
46Staphylococcus aureus infection_Homo sapiens_hsa051501.01440007
47Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.00905186
48DNA replication_Homo sapiens_hsa030300.99899993
49Chronic myeloid leukemia_Homo sapiens_hsa052200.95071546
50Platelet activation_Homo sapiens_hsa046110.94349391
51HTLV-I infection_Homo sapiens_hsa051660.92541015
52Pancreatic cancer_Homo sapiens_hsa052120.91543081
53Salmonella infection_Homo sapiens_hsa051320.90916251
54Base excision repair_Homo sapiens_hsa034100.87860891
55Non-homologous end-joining_Homo sapiens_hsa034500.87672437
56Hepatitis C_Homo sapiens_hsa051600.85144884
57Prolactin signaling pathway_Homo sapiens_hsa049170.84044006
58AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.83865581
59Viral carcinogenesis_Homo sapiens_hsa052030.79780047
60Mismatch repair_Homo sapiens_hsa034300.78963410
61Rheumatoid arthritis_Homo sapiens_hsa053230.77038758
62Other glycan degradation_Homo sapiens_hsa005110.76858810
63African trypanosomiasis_Homo sapiens_hsa051430.72648533
64Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.70497362
65Spliceosome_Homo sapiens_hsa030400.64770142
66Neurotrophin signaling pathway_Homo sapiens_hsa047220.64670313
67Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.60212080
68Colorectal cancer_Homo sapiens_hsa052100.60109018
69Homologous recombination_Homo sapiens_hsa034400.59672193
70Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.58498016
71Alcoholism_Homo sapiens_hsa050340.58205207
72Phagosome_Homo sapiens_hsa041450.58102166
73VEGF signaling pathway_Homo sapiens_hsa043700.55740206
74p53 signaling pathway_Homo sapiens_hsa041150.54341970
75Notch signaling pathway_Homo sapiens_hsa043300.53241815
76Small cell lung cancer_Homo sapiens_hsa052220.53163461
77Non-small cell lung cancer_Homo sapiens_hsa052230.51173254
78Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45685989
79Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.45162842
80Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.44240887
81Glycosaminoglycan degradation_Homo sapiens_hsa005310.43622744
82MAPK signaling pathway_Homo sapiens_hsa040100.43358845
83RNA degradation_Homo sapiens_hsa030180.41254884
84Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.40920206
85Phosphatidylinositol signaling system_Homo sapiens_hsa040700.36583779
86Inositol phosphate metabolism_Homo sapiens_hsa005620.34371045
87Endocytosis_Homo sapiens_hsa041440.33686062
88Lysosome_Homo sapiens_hsa041420.33598318
89Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.31369402
90Nucleotide excision repair_Homo sapiens_hsa034200.30928851
91Fanconi anemia pathway_Homo sapiens_hsa034600.30646769
92FoxO signaling pathway_Homo sapiens_hsa040680.30061090
93Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.29138073
94Regulation of actin cytoskeleton_Homo sapiens_hsa048100.28257907
95Sphingolipid signaling pathway_Homo sapiens_hsa040710.28252987
96Type II diabetes mellitus_Homo sapiens_hsa049300.27776408
97Adipocytokine signaling pathway_Homo sapiens_hsa049200.25294929
98HIF-1 signaling pathway_Homo sapiens_hsa040660.24628342
99Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.24031004
100Dorso-ventral axis formation_Homo sapiens_hsa043200.23680465
101Pathways in cancer_Homo sapiens_hsa052000.23084511
102Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.22089427
103Insulin resistance_Homo sapiens_hsa049310.19742134
104Pyrimidine metabolism_Homo sapiens_hsa002400.18697291
105Prostate cancer_Homo sapiens_hsa052150.17905054
106SNARE interactions in vesicular transport_Homo sapiens_hsa041300.17884430
107Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.17829935
108Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.17646484
109Renal cell carcinoma_Homo sapiens_hsa052110.17502777
110Carbohydrate digestion and absorption_Homo sapiens_hsa049730.17317946
111mTOR signaling pathway_Homo sapiens_hsa041500.14600470
112Phototransduction_Homo sapiens_hsa047440.11050853
113Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.06236398
114Endometrial cancer_Homo sapiens_hsa052130.02927456
115One carbon pool by folate_Homo sapiens_hsa006700.02861790
116Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.02184597
117Choline metabolism in cancer_Homo sapiens_hsa05231-0.0079240

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