IL2RG

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 an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. 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)6.49029924
2negative T cell selection (GO:0043383)6.17337178
3negative thymic T cell selection (GO:0045060)6.16487730
4antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.76735537
5antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.76735537
6positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)5.75948738
7antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.65059480
8cytidine deamination (GO:0009972)5.62095737
9cytidine metabolic process (GO:0046087)5.62095737
10cytidine catabolic process (GO:0006216)5.62095737
11antigen processing and presentation of endogenous antigen (GO:0019883)5.53324852
12positive thymic T cell selection (GO:0045059)5.48555369
13leukocyte aggregation (GO:0070486)5.36250457
14regulation of isotype switching to IgG isotypes (GO:0048302)5.34705287
15pyrimidine ribonucleoside catabolic process (GO:0046133)5.14483226
16negative regulation of cell killing (GO:0031342)5.07444989
17negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.07444989
18regulation of gamma-delta T cell differentiation (GO:0045586)5.03025990
19thymic T cell selection (GO:0045061)4.93609859
20interferon-gamma production (GO:0032609)4.90466063
21regulation of B cell receptor signaling pathway (GO:0050855)4.89799083
22T cell migration (GO:0072678)4.86574624
23positive regulation of interleukin-2 biosynthetic process (GO:0045086)4.79308248
24regulation of gamma-delta T cell activation (GO:0046643)4.71676973
25positive T cell selection (GO:0043368)4.64667631
26regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450914.60053346
27DNA deamination (GO:0045006)4.58505455
28regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)4.49710111
29T cell selection (GO:0045058)4.46229224
30sequestering of actin monomers (GO:0042989)4.38980277
31T cell costimulation (GO:0031295)4.29809442
32lymphocyte costimulation (GO:0031294)4.26072969
33positive regulation of alpha-beta T cell proliferation (GO:0046641)4.21059091
34regulation of alpha-beta T cell proliferation (GO:0046640)4.18571784
35cellular response to type I interferon (GO:0071357)4.12406834
36type I interferon signaling pathway (GO:0060337)4.12406834
37response to type I interferon (GO:0034340)4.11572473
38regulation of T cell receptor signaling pathway (GO:0050856)4.06275966
39regulation of T cell tolerance induction (GO:0002664)4.05073873
40T cell receptor signaling pathway (GO:0050852)4.04552829
41regulation of antigen receptor-mediated signaling pathway (GO:0050854)4.03798948
42regulation of interleukin-12 biosynthetic process (GO:0045075)3.93239167
43positive regulation of isotype switching (GO:0045830)3.90340218
44positive regulation of B cell differentiation (GO:0045579)3.84335291
45negative regulation of T cell mediated immunity (GO:0002710)3.81522854
46* cellular response to interleukin-15 (GO:0071350)3.75642526
47antigen receptor-mediated signaling pathway (GO:0050851)3.73292098
48* response to interleukin-15 (GO:0070672)3.71317141
49regulation of response to interferon-gamma (GO:0060330)3.70083657
50NIK/NF-kappaB signaling (GO:0038061)3.69153319
51activated T cell proliferation (GO:0050798)3.67801588
52positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)3.64811722
53positive regulation of natural killer cell mediated immunity (GO:0002717)3.64811722
54mast cell activation (GO:0045576)3.64148506
55regulation of interferon-gamma-mediated signaling pathway (GO:0060334)3.62929725
56positive regulation of B cell mediated immunity (GO:0002714)3.62420423
57positive regulation of immunoglobulin mediated immune response (GO:0002891)3.62420423
58tolerance induction (GO:0002507)3.60641291
59regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.59631433
60regulation of natural killer cell mediated immunity (GO:0002715)3.59631433
61interferon-gamma-mediated signaling pathway (GO:0060333)3.59545817
62positive regulation of interleukin-2 production (GO:0032743)3.58814153
63regulation of B cell differentiation (GO:0045577)3.57796201
64regulation of isotype switching (GO:0045191)3.54942965
65regulation of interleukin-2 biosynthetic process (GO:0045076)3.53565797
66regulation of immunoglobulin mediated immune response (GO:0002889)3.53084005
67positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.52449335
68positive regulation of defense response to virus by host (GO:0002230)3.52096738
69antigen processing and presentation via MHC class Ib (GO:0002475)3.51763642
70regulation of B cell mediated immunity (GO:0002712)3.50244930
71positive regulation of DNA recombination (GO:0045911)3.47050463
72immunoglobulin mediated immune response (GO:0016064)3.46240189
73Arp2/3 complex-mediated actin nucleation (GO:0034314)3.44948222
74regulation of type I interferon-mediated signaling pathway (GO:0060338)3.43844024
75negative regulation of leukocyte mediated immunity (GO:0002704)3.40086202
76dendritic cell chemotaxis (GO:0002407)3.39757429
77regulation of leukocyte mediated cytotoxicity (GO:0001910)3.39624001
78cellular response to interferon-beta (GO:0035458)3.34236214
79positive regulation of leukocyte mediated cytotoxicity (GO:0001912)3.33388035
80positive regulation of humoral immune response (GO:0002922)3.32628048
81regulation of chronic inflammatory response (GO:0002676)3.30510928
82negative regulation of T cell apoptotic process (GO:0070233)3.29727126
83lymphocyte chemotaxis (GO:0048247)3.28485600
84negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)3.27692315
85negative regulation of viral genome replication (GO:0045071)3.26877831
86leukocyte cell-cell adhesion (GO:0007159)3.26648871
87B cell receptor signaling pathway (GO:0050853)3.24434216
88natural killer cell activation (GO:0030101)3.23419512
89regulation of lymphocyte chemotaxis (GO:1901623)3.22554435
90positive regulation of calcium-mediated signaling (GO:0050850)3.22473378
91defense response to protozoan (GO:0042832)3.22321330
92regulation of T cell mediated cytotoxicity (GO:0001914)3.22008604
93cellular response to zinc ion (GO:0071294)3.20635807
94regulation of tolerance induction (GO:0002643)3.20267245
95negative regulation of interleukin-12 production (GO:0032695)3.20135266
96positive regulation of T cell mediated immunity (GO:0002711)3.20070390
97myeloid dendritic cell activation (GO:0001773)3.19737147
98positive regulation of tolerance induction (GO:0002645)3.19189186
99regulation of cell killing (GO:0031341)3.18193923
100positive regulation of granulocyte differentiation (GO:0030854)3.17215152
101regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.15501935
102cellular defense response (GO:0006968)3.14819732
103positive regulation of macrophage differentiation (GO:0045651)3.12318535
104response to protozoan (GO:0001562)3.12114778
105positive regulation of cell killing (GO:0031343)3.11926858
106regulation of activation of Janus kinase activity (GO:0010533)3.11808514
107regulation of regulatory T cell differentiation (GO:0045589)3.09829425
108positive regulation of lamellipodium assembly (GO:0010592)3.09825061
109positive regulation of immunoglobulin production (GO:0002639)3.08778377
110regulation of immunoglobulin production (GO:0002637)3.08378758
111positive regulation of lymphocyte migration (GO:2000403)3.07664646
112regulation of T cell mediated immunity (GO:0002709)3.07608795
113negative regulation of T cell receptor signaling pathway (GO:0050860)3.06912718
114actin nucleation (GO:0045010)3.06021775
115positive regulation of T cell chemotaxis (GO:0010820)3.02701672
116regulation of T cell chemotaxis (GO:0010819)3.02701672
117positive regulation of T cell mediated cytotoxicity (GO:0001916)3.01310552
118lymphocyte migration (GO:0072676)3.00463187
119positive regulation of interferon-gamma production (GO:0032729)3.00220468
120dendritic cell migration (GO:0036336)2.99792642
121neutrophil activation (GO:0042119)2.98610161
122B cell mediated immunity (GO:0019724)2.98070734
123regulation of lymphocyte mediated immunity (GO:0002706)2.97276697
124mucosal-associated lymphoid tissue development (GO:0048537)2.96043312
125Peyers patch development (GO:0048541)2.96043312
126granulocyte activation (GO:0036230)2.95914955
127cellular extravasation (GO:0045123)2.95133359
128negative regulation of lymphocyte mediated immunity (GO:0002707)2.94877025
129positive regulation of lymphocyte mediated immunity (GO:0002708)2.94642845
130positive regulation of inflammatory response to antigenic stimulus (GO:0002863)2.94148096
131T cell homeostasis (GO:0043029)2.93833080
132response to interferon-beta (GO:0035456)2.93670077
133myeloid dendritic cell differentiation (GO:0043011)2.93058923

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse6.27525030
2IRF8_22096565_ChIP-ChIP_GC-B_Human6.08739712
3STAT6_20620947_ChIP-Seq_CD4_POS_T_Human5.06277060
4IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.74467920
5IRF8_21731497_ChIP-ChIP_J774_Mouse4.29889356
6IRF1_21803131_ChIP-Seq_MONOCYTES_Human4.01270081
7BP1_19119308_ChIP-ChIP_Hs578T_Human3.77514074
8STAT4_19710469_ChIP-ChIP_TH1__Mouse3.56214584
9STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.46439587
10* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.34657202
11SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.25662266
12RUNX_20019798_ChIP-Seq_JUKART_Human2.98457621
13* MYB_26560356_Chip-Seq_TH2_Human2.84329612
14FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.80208718
15MAF_26560356_Chip-Seq_TH1_Human2.63335475
16RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.60365607
17IRF8_27001747_Chip-Seq_BMDM_Mouse2.55574274
18MYC_22102868_ChIP-Seq_BL_Human2.52327807
19SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.48449205
20MYB_26560356_Chip-Seq_TH1_Human2.42470151
21SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.40366973
22E2F7_22180533_ChIP-Seq_HELA_Human2.37581618
23NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.34351046
24NOTCH1_21737748_ChIP-Seq_TLL_Human2.28571435
25SPI1_23547873_ChIP-Seq_NB4_Human2.24054420
26UTX_26944678_Chip-Seq_JUKART_Human2.23305905
27MYB_21317192_ChIP-Seq_ERMYB_Mouse2.23042520
28FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.20423703
29ELF1_17652178_ChIP-ChIP_JURKAT_Human2.08265312
30EGR1_19374776_ChIP-ChIP_THP-1_Human2.06484972
31SCL_19346495_ChIP-Seq_HPC-7_Human2.04340686
32* RUNX1_22412390_ChIP-Seq_EML_Mouse1.98255229
33VDR_21846776_ChIP-Seq_THP-1_Human1.89313484
34RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.87052814
35CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.82205512
36MAF_26560356_Chip-Seq_TH2_Human1.81330733
37GATA3_27048872_Chip-Seq_THYMUS_Human1.75618291
38MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.75042113
39ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.71466791
40VDR_24763502_ChIP-Seq_THP-1_Human1.69181675
41TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.68145175
42E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.63503396
43NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.61277404
44NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.60469307
45NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.59510607
46BRD4_27068464_Chip-Seq_AML-cells_Mouse1.59361872
47EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.58359163
48SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.46767684
49SPI1_23127762_ChIP-Seq_K562_Human1.44991744
50GATA2_22383799_ChIP-Seq_G1ME_Mouse1.39854768
51LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.37583686
52CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.36277929
53TCF7_22412390_ChIP-Seq_EML_Mouse1.32417580
54LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.32287005
55PU_27001747_Chip-Seq_BMDM_Mouse1.29473308
56CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.28703387
57* VDR_23849224_ChIP-Seq_CD4+_Human1.27134841
58GATA3_26560356_Chip-Seq_TH2_Human1.24977852
59KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.24757974
60* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.20587447
61ERG_20887958_ChIP-Seq_HPC-7_Mouse1.19688031
62* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.19156012
63BCL6_27268052_Chip-Seq_Bcells_Human1.17979767
64CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.17638220
65SMAD_19615063_ChIP-ChIP_OVARY_Human1.16532432
66GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.15504808
67PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.15116644
68RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.13893172
69STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.11311484
70FOXP3_21729870_ChIP-Seq_TREG_Human1.09493016
71PU.1_20513432_ChIP-Seq_Bcells_Mouse1.08271031
72CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.06427348
73GATA1_22383799_ChIP-Seq_G1ME_Mouse1.03754211
74SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.02097384
75KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.00470705
76VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.98296074
77PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.97503469
78BCOR_27268052_Chip-Seq_Bcells_Human0.97193520
79ELK3_25401928_ChIP-Seq_HUVEC_Human0.95898935
80GABP_17652178_ChIP-ChIP_JURKAT_Human0.95148410
81ELF1_20517297_ChIP-Seq_JURKAT_Human0.94023613
82Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.93806210
83KDM2B_26808549_Chip-Seq_DND41_Human0.91383831
84P300_27268052_Chip-Seq_Bcells_Human0.90941804
85GATA3_26560356_Chip-Seq_TH1_Human0.90710445
86VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.89778708
87TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.89197427
88FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.88952900
89E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.88487979
90GATA1_22025678_ChIP-Seq_K562_Human0.88037046
91CIITA_25753668_ChIP-Seq_RAJI_Human0.86283535
92RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.85163378
93ELK1_19687146_ChIP-ChIP_HELA_Human0.84708948
94PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.84243473
95CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.82781205
96CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.82337892
97TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.81918294
98PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.80947810
99FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.80398044
100SPI1_20517297_ChIP-Seq_HL60_Human0.79693011
101GATA1_19941827_ChIP-Seq_MEL_Mouse0.79126617
102* EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.78790556
103EST1_17652178_ChIP-ChIP_JURKAT_Human0.77483403
104RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.77265315
105FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.76655959
106E2F4_17652178_ChIP-ChIP_JURKAT_Human0.76286508
107SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.73575072
108KDM2B_26808549_Chip-Seq_SUP-B15_Human0.73324140
109NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.73273738
110SMRT_27268052_Chip-Seq_Bcells_Human0.73242858
111PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.70245640
112EGR1_19032775_ChIP-ChIP_M12_Human0.66936083
113JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.66865502
114CTCF_26484167_Chip-Seq_Bcells_Mouse0.66822658
115RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.65551208
116SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.65356077
117TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.65065289
118VDR_24787735_ChIP-Seq_THP-1_Human0.63589289
119ETS1_22383799_ChIP-Seq_G1ME_Mouse0.62037394

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.71791962
2* MP0005671_abnormal_response_to4.48871303
3* MP0003763_abnormal_thymus_physiology4.06716044
4MP0000685_abnormal_immune_system3.79121507
5MP0009785_altered_susceptibility_to3.78997193
6MP0005000_abnormal_immune_tolerance3.29347116
7* MP0001800_abnormal_humoral_immune3.26484635
8MP0001790_abnormal_immune_system3.15143574
9MP0005387_immune_system_phenotype3.15143574
10MP0003724_increased_susceptibility_to3.09103675
11MP0006082_CNS_inflammation3.04778201
12MP0002166_altered_tumor_susceptibility3.03868549
13* MP0005025_abnormal_response_to2.96718485
14* MP0002723_abnormal_immune_serum2.95878191
15* MP0002420_abnormal_adaptive_immunity2.89141151
16* MP0001819_abnormal_immune_cell2.86843673
17* MP0002452_abnormal_antigen_presenting2.84087391
18MP0003436_decreased_susceptibility_to2.83306903
19MP0002148_abnormal_hypersensitivity_rea2.77565482
20MP0002006_tumorigenesis2.68998348
21* MP0002398_abnormal_bone_marrow2.62163695
22MP0009333_abnormal_splenocyte_physiolog2.59318680
23* MP0002405_respiratory_system_inflammati2.44445295
24* MP0000716_abnormal_immune_system2.39663309
25* MP0002419_abnormal_innate_immunity2.37955254
26MP0001873_stomach_inflammation2.19132954
27* MP0002722_abnormal_immune_system2.10112978
28* MP0000689_abnormal_spleen_morphology2.07387321
29MP0004510_myositis2.04503333
30MP0002396_abnormal_hematopoietic_system2.02136186
31* MP0010155_abnormal_intestine_physiology2.00732787
32MP0004947_skin_inflammation1.99487903
33* MP0002429_abnormal_blood_cell1.96716049
34* MP0000703_abnormal_thymus_morphology1.95515148
35MP0001853_heart_inflammation1.94035497
36* MP0001845_abnormal_inflammatory_respons1.83277072
37MP0005464_abnormal_platelet_physiology1.82676521
38MP0002933_joint_inflammation1.80770282
39MP0005310_abnormal_salivary_gland1.65590867
40MP0003866_abnormal_defecation1.63601281
41MP0003303_peritoneal_inflammation1.58525475
42MP0000858_altered_metastatic_potential1.52652487
43MP0001533_abnormal_skeleton_physiology1.47768891
44MP0003300_gastrointestinal_ulcer1.46387622
45MP0008469_abnormal_protein_level1.46283691
46MP0003448_altered_tumor_morphology1.42202580
47MP0004808_abnormal_hematopoietic_stem1.32558921
48MP0009764_decreased_sensitivity_to1.22212658
49MP0001545_abnormal_hematopoietic_system1.18552327
50MP0005397_hematopoietic_system_phenotyp1.18552327
51MP0003183_abnormal_peptide_metabolism1.18177298
52MP0000465_gastrointestinal_hemorrhage1.16938918
53MP0001851_eye_inflammation1.11486728
54MP0000490_abnormal_crypts_of1.07013664
55MP0002998_abnormal_bone_remodeling1.05268650
56MP0002132_abnormal_respiratory_system1.02227792
57MP0000343_altered_response_to0.99717853
58MP0002138_abnormal_hepatobiliary_system0.97484980
59* MP0002019_abnormal_tumor_incidence0.96048683
60MP0005075_abnormal_melanosome_morpholog0.95507132
61MP0002163_abnormal_gland_morphology0.89450648
62MP0004381_abnormal_hair_follicle0.89146942
63MP0008057_abnormal_DNA_replication0.81655325
64MP0005174_abnormal_tail_pigmentation0.80606496
65MP0005451_abnormal_body_composition0.79405466
66* MP0009763_increased_sensitivity_to0.78875412
67MP0003045_fibrosis0.77599771
68MP0003075_altered_response_to0.74523281
69MP0002009_preneoplasia0.74323427
70MP0005058_abnormal_lysosome_morphology0.73520974
71MP0003806_abnormal_nucleotide_metabolis0.71622183
72MP0003172_abnormal_lysosome_physiology0.69080185
73MP0009278_abnormal_bone_marrow0.68370601
74MP0000015_abnormal_ear_pigmentation0.67752225
75MP0009765_abnormal_xenobiotic_induced0.66301987
76MP0001348_abnormal_lacrimal_gland0.65923331
77MP0005166_decreased_susceptibility_to0.64532099
78MP0010352_gastrointestinal_tract_polyps0.61313386
79MP0005645_abnormal_hypothalamus_physiol0.61294977
80MP0008007_abnormal_cellular_replicative0.60815148
81MP0001986_abnormal_taste_sensitivity0.60613466
82MP0002095_abnormal_skin_pigmentation0.60348091
83MP0005023_abnormal_wound_healing0.59768498
84MP0003191_abnormal_cellular_cholesterol0.59301055
85MP0000604_amyloidosis0.59072079
86MP0005390_skeleton_phenotype0.58772679
87MP0000249_abnormal_blood_vessel0.56321527
88MP0001765_abnormal_ion_homeostasis0.56182280
89MP0003795_abnormal_bone_structure0.55766884
90MP0001663_abnormal_digestive_system0.54691606
91MP0005377_hearing/vestibular/ear_phenot0.53170872
92MP0003878_abnormal_ear_physiology0.53170872
93MP0003077_abnormal_cell_cycle0.52707408
94MP0002136_abnormal_kidney_physiology0.52592205
95MP0001501_abnormal_sleep_pattern0.52186892
96MP0003786_premature_aging0.50493011
97MP0001919_abnormal_reproductive_system0.49524484
98MP0001191_abnormal_skin_condition0.49142158
99MP0005319_abnormal_enzyme/_coenzyme0.47038713
100MP0008058_abnormal_DNA_repair0.47020497
101MP0009840_abnormal_foam_cell0.46930619
102MP0003252_abnormal_bile_duct0.46905921
103MP0002277_abnormal_respiratory_mucosa0.46260235
104MP0003828_pulmonary_edema0.46189368
105MP0002693_abnormal_pancreas_physiology0.45574703
106MP0009643_abnormal_urine_homeostasis0.45372689
107* MP0000313_abnormal_cell_death0.45115518
108MP0001243_abnormal_dermal_layer0.43877003
109MP0003943_abnormal_hepatobiliary_system0.43710645
110MP0008872_abnormal_physiological_respon0.43033756
111MP0004782_abnormal_surfactant_physiolog0.42810941
112MP0000372_irregular_coat_pigmentation0.42546599
113MP0000371_diluted_coat_color0.41973415
114MP0000609_abnormal_liver_physiology0.41795850
115MP0004883_abnormal_blood_vessel0.41716805
116MP0005379_endocrine/exocrine_gland_phen0.41545485
117MP0003186_abnormal_redox_activity0.41534358
118MP0000920_abnormal_myelination0.41453644
119MP0010094_abnormal_chromosome_stability0.40916693
120MP0001881_abnormal_mammary_gland0.40796883
121MP0005584_abnormal_enzyme/coenzyme_acti0.40604588
122MP0002876_abnormal_thyroid_physiology0.40360688
123MP0010307_abnormal_tumor_latency0.39483003
124MP0008260_abnormal_autophagy0.39242311
125MP0008873_increased_physiological_sensi0.38095186
126MP0003693_abnormal_embryo_hatching0.37379468

Predicted human phenotypes

RankGene SetZ-score
1Elevated erythrocyte sedimentation rate (HP:0003565)6.39453244
2Eczematoid dermatitis (HP:0000976)5.41042031
3Stomatitis (HP:0010280)5.27617584
4* Abnormality of T cell number (HP:0011839)4.93014614
5* T lymphocytopenia (HP:0005403)4.89506087
6Recurrent abscess formation (HP:0002722)4.85864153
7Myositis (HP:0100614)4.80455281
8IgM deficiency (HP:0002850)4.77883359
9Increased IgM level (HP:0003496)4.35952227
10Chronic otitis media (HP:0000389)4.35261781
11* Recurrent fungal infections (HP:0002841)4.32941071
12* Abnormality of T cells (HP:0002843)4.29602396
13Recurrent viral infections (HP:0004429)4.25181136
14Panhypogammaglobulinemia (HP:0003139)4.11782561
15* Recurrent bronchitis (HP:0002837)4.04081917
16* IgG deficiency (HP:0004315)4.00915051
17Retrobulbar optic neuritis (HP:0100654)3.97815319
18Optic neuritis (HP:0100653)3.97815319
19Nasal polyposis (HP:0100582)3.87055789
20Lymphopenia (HP:0001888)3.82803481
21Orchitis (HP:0100796)3.81056928
22Recurrent bacterial skin infections (HP:0005406)3.79203255
23Autoimmune hemolytic anemia (HP:0001890)3.77389475
24Abnormality of cells of the lymphoid lineage (HP:0012140)3.73818507
25Mediastinal lymphadenopathy (HP:0100721)3.73496590
26* Severe combined immunodeficiency (HP:0004430)3.68026888
27Vasculitis (HP:0002633)3.65637253
28* Combined immunodeficiency (HP:0005387)3.61266746
29Abnormality of T cell physiology (HP:0011840)3.59281490
30Meningitis (HP:0001287)3.56118332
31Abnormality of B cell number (HP:0010975)3.53749998
32B lymphocytopenia (HP:0010976)3.53749998
33Abnormality of the nasal mucosa (HP:0000433)3.48998894
34Autoimmune thrombocytopenia (HP:0001973)3.43308566
35Chronic obstructive pulmonary disease (HP:0006510)3.42358378
36Obstructive lung disease (HP:0006536)3.42358378
37* Chronic mucocutaneous candidiasis (HP:0002728)3.42243476
38* Recurrent cutaneous fungal infections (HP:0011370)3.42243476
39Pustule (HP:0200039)3.39018355
40Abnormal delayed hypersensitivity skin test (HP:0002963)3.38857581
41Recurrent sinusitis (HP:0011108)3.30259766
42Hypergammaglobulinemia (HP:0010702)3.16322079
43Hemoptysis (HP:0002105)3.14000190
44Pulmonary infiltrates (HP:0002113)3.10531701
45* Recurrent skin infections (HP:0001581)3.08557515
46Hypoproteinemia (HP:0003075)3.08515824
47Thrombocytosis (HP:0001894)3.04508203
48IgA deficiency (HP:0002720)3.01251031
49Eosinophilia (HP:0001880)2.97464645
50Joint swelling (HP:0001386)2.91787122
51Aplastic anemia (HP:0001915)2.90075908
52Abnormality of macrophages (HP:0004311)2.84499034
53Encephalitis (HP:0002383)2.84015799
54Gingivitis (HP:0000230)2.83097022
55Gastrointestinal infarctions (HP:0005244)2.77903358
56Recurrent gram-negative bacterial infections (HP:0005420)2.77796711
57Gastrointestinal stroma tumor (HP:0100723)2.77027782
58Keratoconjunctivitis sicca (HP:0001097)2.76175431
59* Chronic diarrhea (HP:0002028)2.72863695
60Spontaneous hematomas (HP:0007420)2.70831613
61* Leukocytosis (HP:0001974)2.70732816
62Granulocytopenia (HP:0001913)2.69842715
63Inflammation of the large intestine (HP:0002037)2.69120184
64* Abnormality of eosinophils (HP:0001879)2.68149350
65Abnormality of the prostate (HP:0008775)2.67362984
66Petechiae (HP:0000967)2.65967439
67Arterial thrombosis (HP:0004420)2.65639902
68Keratoconjunctivitis (HP:0001096)2.65240899
69Gastrointestinal inflammation (HP:0004386)2.62921321
70Abnormality of the fingertips (HP:0001211)2.58936257
71* Lymphoma (HP:0002665)2.46977725
72Basal ganglia calcification (HP:0002135)2.43483530
73Chronic sinusitis (HP:0011109)2.42468926
74* Agammaglobulinemia (HP:0004432)2.37045360
75Glomerulopathy (HP:0100820)2.35840459
76Epistaxis (HP:0000421)2.34240929
77Acute hepatic failure (HP:0006554)2.33577319
78Cellulitis (HP:0100658)2.33548120
79Increased IgE level (HP:0003212)2.27088616
80Pulmonary fibrosis (HP:0002206)2.26509294
81Periodontitis (HP:0000704)2.25835756
82Hypochromic anemia (HP:0001931)2.23975020
83Cheilitis (HP:0100825)2.23366319
84Microcytic anemia (HP:0001935)2.22067789
85* Skin rash (HP:0000988)2.20450822
86Premature loss of primary teeth (HP:0006323)2.20285659
87Gangrene (HP:0100758)2.19502131
88Abnormality of the pericardium (HP:0001697)2.18136999
89Vacuolated lymphocytes (HP:0001922)2.16377448
90Emphysema (HP:0002097)2.15233401
91* Bronchitis (HP:0012387)2.13869834
92Papilloma (HP:0012740)2.13621813
93Verrucae (HP:0200043)2.13621813
94Skin ulcer (HP:0200042)2.12276530
95Ureteral stenosis (HP:0000071)2.12063890
96Chest pain (HP:0100749)2.11845688
97Interstitial pulmonary disease (HP:0006530)2.11806672
98Prolonged bleeding time (HP:0003010)2.10785138
99Keratitis (HP:0000491)2.09571613
100Pulmonary embolism (HP:0002204)2.08956071
101Urticaria (HP:0001025)2.08335243
102Colitis (HP:0002583)2.08007477
103Recurrent pneumonia (HP:0006532)2.07566709
104Amaurosis fugax (HP:0100576)2.07441644
105Anorexia (HP:0002039)2.06179022
106Arthralgia (HP:0002829)2.05808542
107Gingival bleeding (HP:0000225)2.05706563
108Recurrent otitis media (HP:0000403)2.03952771
109* Thyroiditis (HP:0100646)2.03517274
110Ureteral obstruction (HP:0006000)2.02043697
111Polyneuropathy (HP:0001271)2.01753209
112Reduced subcutaneous adipose tissue (HP:0003758)2.00175943
113Purpura (HP:0000979)1.99818646
114Restrictive lung disease (HP:0002091)1.99037646
115Abnormality of the pleura (HP:0002103)1.98020900
116Abnormality of male internal genitalia (HP:0000022)1.95812381
117Hepatosplenomegaly (HP:0001433)1.88342948
118Osteomyelitis (HP:0002754)1.86258246
119Hemiplegia (HP:0002301)1.85831986
120Thrombophlebitis (HP:0004418)1.84115328

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TXK5.66936822
2MAP4K15.43443048
3KDR3.41971186
4IKBKE3.16316515
5ZAP703.13130736
6JAK33.11375656
7TYK22.82953447
8MAP3K142.76721074
9TBK12.58634844
10FGFR42.54945072
11ITK2.45244658
12BLK2.42675878
13KIT2.27727078
14NME22.19962933
15IRAK42.16117304
16JAK12.09542113
17TESK22.09175886
18TEC1.98812622
19LCK1.84885650
20BTK1.81493074
21STK101.80271599
22SYK1.74469574
23NLK1.62733594
24IKBKB1.62614544
25FGFR31.61722569
26CSK1.57885849
27MAP3K121.39771584
28HCK1.31797457
29LYN1.22569575
30GRK61.20785851
31MST41.16806107
32BCKDK1.15610715
33CSF1R1.09442197
34CHUK1.07359943
35IRAK31.07035509
36PIM21.06666381
37NEK90.97124801
38MAP3K130.95035002
39LRRK20.94533366
40PRKCQ0.93406172
41PIM10.93015376
42RPS6KA40.90791343
43TGFBR20.90071234
44CLK10.89618192
45SIK30.89360181
46MATK0.84709535
47RIPK40.83757930
48TESK10.81385501
49PRPF4B0.78123840
50TNK20.76114811
51ERN10.74885830
52JAK20.74225710
53TGFBR10.73558850
54FES0.70316420
55PIK3CG0.65534472
56CAMKK20.63490878
57MARK30.62800784
58MAP3K30.59672791
59MAP2K20.58459026
60PRKCH0.57561843
61ACVR1B0.57038821
62MAP3K100.55893990
63EIF2AK10.55785796
64PASK0.55586311
65FGR0.52940260
66TAOK30.52836678
67MAPK110.50664374
68FLT30.49090312
69MAPKAPK30.48721473
70MAP3K10.48319861
71STK40.48184566
72IRAK10.47314645
73MAP2K30.47258599
74FYN0.45240359
75TLK10.45059964
76MAPK120.44521698
77SIK20.44242058
78EPHB10.44227398
79PRKCD0.43333254
80CAMKK10.43094534
81EIF2AK30.42365371
82TAOK20.40894346
83MAP3K110.40652031
84CDK40.37038040
85IGF1R0.36905116
86INSR0.36853950
87MAPK70.36636744
88ABL10.34951327
89ADRBK20.34707844
90ZAK0.32930055
91SCYL20.32232888
92MAP2K60.32020863
93RPS6KA50.31884109
94VRK10.30890363
95TYRO30.29739352
96DAPK10.29148982
97EPHA30.28263171
98BMPR20.26877670
99VRK20.26839617
100PDK10.26764490
101MAPKAPK20.26703937
102MYLK0.26529542
103EEF2K0.25119770
104EIF2AK20.24908240
105IRAK20.23693792
106EGFR0.23121087
107NUAK10.22335091
108MAPK30.21249320
109PIK3CA0.21141543
110MAP3K70.19342737
111TIE10.18910146
112CDC42BPA0.18042261
113PDGFRB0.16687355
114HIPK20.16325840
115CDK60.16136553
116ALK0.15808069
117TAOK10.14810708
118ATR0.14695136
119ILK0.14318205
120SRC0.13660107
121GRK70.13022411
122CDK190.12939790
123DAPK30.12623118
124MAPK40.12547605
125TSSK60.11271897

Predicted pathways (KEGG)

RankGene SetZ-score
1* Primary immunodeficiency_Homo sapiens_hsa053404.64466446
2Graft-versus-host disease_Homo sapiens_hsa053323.38836386
3Allograft rejection_Homo sapiens_hsa053303.26599383
4Intestinal immune network for IgA production_Homo sapiens_hsa046722.93145532
5Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.89744408
6* Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.88598449
7NF-kappa B signaling pathway_Homo sapiens_hsa040642.79187678
8T cell receptor signaling pathway_Homo sapiens_hsa046602.76283597
9Antigen processing and presentation_Homo sapiens_hsa046122.70020704
10* Measles_Homo sapiens_hsa051622.66998100
11Leishmaniasis_Homo sapiens_hsa051402.63025418
12Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.42611732
13Hematopoietic cell lineage_Homo sapiens_hsa046402.32605466
14Autoimmune thyroid disease_Homo sapiens_hsa053202.00451296
15Osteoclast differentiation_Homo sapiens_hsa043801.97939298
16RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.97743636
17B cell receptor signaling pathway_Homo sapiens_hsa046621.84801760
18Asthma_Homo sapiens_hsa053101.76638113
19Viral myocarditis_Homo sapiens_hsa054161.76118680
20Herpes simplex infection_Homo sapiens_hsa051681.73484001
21Type I diabetes mellitus_Homo sapiens_hsa049401.69421106
22* Jak-STAT signaling pathway_Homo sapiens_hsa046301.64773058
23Toll-like receptor signaling pathway_Homo sapiens_hsa046201.64321183
24Malaria_Homo sapiens_hsa051441.57841770
25NOD-like receptor signaling pathway_Homo sapiens_hsa046211.49885741
26* Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.47884186
27Legionellosis_Homo sapiens_hsa051341.46785133
28Proteasome_Homo sapiens_hsa030501.40501804
29Staphylococcus aureus infection_Homo sapiens_hsa051501.36738413
30Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.35302486
31Toxoplasmosis_Homo sapiens_hsa051451.33748422
32Shigellosis_Homo sapiens_hsa051311.32427727
33Influenza A_Homo sapiens_hsa051641.32333193
34Chemokine signaling pathway_Homo sapiens_hsa040621.31172888
35Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.20359887
36TNF signaling pathway_Homo sapiens_hsa046681.19270277
37Pertussis_Homo sapiens_hsa051331.18785864
38Apoptosis_Homo sapiens_hsa042101.18654286
39Tuberculosis_Homo sapiens_hsa051521.16537509
40Salmonella infection_Homo sapiens_hsa051321.15817006
41Leukocyte transendothelial migration_Homo sapiens_hsa046701.12020450
42Hepatitis B_Homo sapiens_hsa051611.07226870
43Ribosome_Homo sapiens_hsa030101.07203541
44Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.06925535
45DNA replication_Homo sapiens_hsa030301.03987780
46Rheumatoid arthritis_Homo sapiens_hsa053230.98122359
47Other glycan degradation_Homo sapiens_hsa005110.94896279
48Epstein-Barr virus infection_Homo sapiens_hsa051690.86096593
49Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.85352957
50Mismatch repair_Homo sapiens_hsa034300.84717278
51Acute myeloid leukemia_Homo sapiens_hsa052210.82046826
52Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.81551776
53Base excision repair_Homo sapiens_hsa034100.80440294
54African trypanosomiasis_Homo sapiens_hsa051430.79351692
55* HTLV-I infection_Homo sapiens_hsa051660.78290890
56Hepatitis C_Homo sapiens_hsa051600.75658627
57Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.75520808
58Pancreatic cancer_Homo sapiens_hsa052120.72660853
59Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.69748620
60Viral carcinogenesis_Homo sapiens_hsa052030.69299417
61Platelet activation_Homo sapiens_hsa046110.66286221
62Nucleotide excision repair_Homo sapiens_hsa034200.66079919
63Non-homologous end-joining_Homo sapiens_hsa034500.65175858
64p53 signaling pathway_Homo sapiens_hsa041150.64057098
65AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.63340584
66Spliceosome_Homo sapiens_hsa030400.62154148
67Transcriptional misregulation in cancer_Homo sapiens_hsa052020.61247108
68Lysosome_Homo sapiens_hsa041420.56149701
69Prolactin signaling pathway_Homo sapiens_hsa049170.53439211
70Homologous recombination_Homo sapiens_hsa034400.52910207
71Caffeine metabolism_Homo sapiens_hsa002320.49512502
72VEGF signaling pathway_Homo sapiens_hsa043700.48858114
73Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.47517690
74Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.43677942
75Chronic myeloid leukemia_Homo sapiens_hsa052200.43660221
76RNA polymerase_Homo sapiens_hsa030200.43286440
77RNA degradation_Homo sapiens_hsa030180.42905412
78Regulation of autophagy_Homo sapiens_hsa041400.42081034
79Non-small cell lung cancer_Homo sapiens_hsa052230.38082014
80Pyrimidine metabolism_Homo sapiens_hsa002400.37838970
81Colorectal cancer_Homo sapiens_hsa052100.37533481
82Protein export_Homo sapiens_hsa030600.35212284
83Regulation of actin cytoskeleton_Homo sapiens_hsa048100.33282886
84SNARE interactions in vesicular transport_Homo sapiens_hsa041300.31862402
85Small cell lung cancer_Homo sapiens_hsa052220.31656106
86alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.29629831
87Notch signaling pathway_Homo sapiens_hsa043300.28417981
88Neurotrophin signaling pathway_Homo sapiens_hsa047220.28334953
89Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.27283451
90Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.24281019
91Sphingolipid signaling pathway_Homo sapiens_hsa040710.23627260
92Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.23570307
93Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.23019013
94Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.22649080
95Basal transcription factors_Homo sapiens_hsa030220.21685857
96Phagosome_Homo sapiens_hsa041450.21338735
97Glycosaminoglycan degradation_Homo sapiens_hsa005310.21001129
98Linoleic acid metabolism_Homo sapiens_hsa005910.20877533
99* Endocytosis_Homo sapiens_hsa041440.19795425
100Pentose phosphate pathway_Homo sapiens_hsa000300.19497209
101Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.18312893
102HIF-1 signaling pathway_Homo sapiens_hsa040660.15576924
103MAPK signaling pathway_Homo sapiens_hsa040100.15235245
104Adipocytokine signaling pathway_Homo sapiens_hsa049200.15202495
105Systemic lupus erythematosus_Homo sapiens_hsa053220.12443465
106Cell cycle_Homo sapiens_hsa041100.12140192
107Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.11849317
108Rap1 signaling pathway_Homo sapiens_hsa040150.11722874
109Thyroid cancer_Homo sapiens_hsa052160.11258797
110Arachidonic acid metabolism_Homo sapiens_hsa005900.09966705
111Adherens junction_Homo sapiens_hsa045200.09098160
112Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.07862309
113Carbohydrate digestion and absorption_Homo sapiens_hsa049730.06683305
114Collecting duct acid secretion_Homo sapiens_hsa049660.05687142
115Glycerophospholipid metabolism_Homo sapiens_hsa005640.05357167
116Insulin resistance_Homo sapiens_hsa049310.02774089
117Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.01948329
118Phosphatidylinositol signaling system_Homo sapiens_hsa04070-0.0520010
119Ras signaling pathway_Homo sapiens_hsa04014-0.0460748
120FoxO signaling pathway_Homo sapiens_hsa04068-0.0354474
121Parkinsons disease_Homo sapiens_hsa05012-0.0308802
122Peroxisome_Homo sapiens_hsa04146-0.0300975
123Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770-0.0271912
124Oxidative phosphorylation_Homo sapiens_hsa00190-0.0240289
125Phototransduction_Homo sapiens_hsa04744-0.0220030

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