PTPN22

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





Description: This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms 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)6.61203204
2negative T cell selection (GO:0043383)6.56985523
3regulation of isotype switching to IgG isotypes (GO:0048302)6.48899803
4negative thymic T cell selection (GO:0045060)6.34388344
5negative regulation of leukocyte mediated cytotoxicity (GO:0001911)6.14461499
6negative regulation of cell killing (GO:0031342)6.14461499
7interferon-gamma production (GO:0032609)6.13682590
8cellular response to interleukin-15 (GO:0071350)5.60359388
9positive thymic T cell selection (GO:0045059)5.57796149
10positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)5.47283227
11response to interleukin-15 (GO:0070672)5.33559304
12antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.26935221
13antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.26935221
14thymic T cell selection (GO:0045061)5.18263965
15positive T cell selection (GO:0043368)5.16133103
16regulation of gamma-delta T cell differentiation (GO:0045586)5.14439665
17positive regulation of isotype switching (GO:0045830)4.99013741
18positive regulation of interleukin-2 biosynthetic process (GO:0045086)4.95816717
19leukocyte aggregation (GO:0070486)4.86196156
20regulation of gamma-delta T cell activation (GO:0046643)4.86090023
21T cell selection (GO:0045058)4.83195534
22antigen processing and presentation of endogenous antigen (GO:0019883)4.78293034
23T cell migration (GO:0072678)4.70537171
24positive regulation of DNA recombination (GO:0045911)4.45861482
25regulation of isotype switching (GO:0045191)4.41418839
26* regulation of B cell receptor signaling pathway (GO:0050855)4.39090909
27regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)4.28356127
28tolerance induction (GO:0002507)4.25901377
29antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.25767027
30positive regulation of B cell differentiation (GO:0045579)4.22420783
31T cell costimulation (GO:0031295)4.22369835
32lymphocyte costimulation (GO:0031294)4.21925082
33regulation of alpha-beta T cell proliferation (GO:0046640)4.19221498
34positive regulation of B cell mediated immunity (GO:0002714)4.16763747
35positive regulation of immunoglobulin mediated immune response (GO:0002891)4.16763747
36positive regulation of alpha-beta T cell proliferation (GO:0046641)4.14595665
37regulation of interleukin-12 biosynthetic process (GO:0045075)4.07566909
38* T cell receptor signaling pathway (GO:0050852)4.05208413
39regulation of T cell tolerance induction (GO:0002664)3.96972341
40cytidine metabolic process (GO:0046087)3.95348879
41cytidine catabolic process (GO:0006216)3.95348879
42cytidine deamination (GO:0009972)3.95348879
43regulation of immunoglobulin mediated immune response (GO:0002889)3.92989800
44regulation of regulatory T cell differentiation (GO:0045589)3.91616535
45regulation of B cell mediated immunity (GO:0002712)3.88230292
46positive regulation of natural killer cell mediated immunity (GO:0002717)3.83541561
47positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)3.83541561
48activated T cell proliferation (GO:0050798)3.81430494
49* antigen receptor-mediated signaling pathway (GO:0050851)3.77385450
50regulation of interleukin-2 biosynthetic process (GO:0045076)3.74594410
51* regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.73950115
52regulation of natural killer cell mediated immunity (GO:0002715)3.73788022
53regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.73788022
54pyrimidine ribonucleoside catabolic process (GO:0046133)3.70827348
55CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)3.70477044
56negative regulation of T cell mediated immunity (GO:0002710)3.68243286
57immunoglobulin mediated immune response (GO:0016064)3.67490451
58* regulation of T cell receptor signaling pathway (GO:0050856)3.57788999
59regulation of leukocyte mediated cytotoxicity (GO:0001910)3.56541639
60positive regulation of leukocyte mediated cytotoxicity (GO:0001912)3.55796740
61positive regulation of immunoglobulin production (GO:0002639)3.54416638
62regulation of response to interferon-gamma (GO:0060330)3.54002991
63regulation of interferon-gamma-mediated signaling pathway (GO:0060334)3.52532270
64mast cell activation (GO:0045576)3.51942354
65positive regulation of interleukin-2 production (GO:0032743)3.51836976
66regulation of cell killing (GO:0031341)3.48090806
67regulation of B cell differentiation (GO:0045577)3.47744709
68positive regulation of cell killing (GO:0031343)3.45163991
69alpha-beta T cell activation (GO:0046631)3.43908227
70neutrophil activation involved in immune response (GO:0002283)3.43007921
71regulation of immunoglobulin production (GO:0002637)3.41702714
72positive regulation of granulocyte differentiation (GO:0030854)3.39576921
73alpha-beta T cell differentiation (GO:0046632)3.38547952
74detection of other organism (GO:0098543)3.36703874
75B cell receptor signaling pathway (GO:0050853)3.36098067
76regulation of T cell mediated cytotoxicity (GO:0001914)3.34712156
77detection of bacterium (GO:0016045)3.33978546
78alpha-beta T cell differentiation involved in immune response (GO:0002293)3.32752782
79alpha-beta T cell activation involved in immune response (GO:0002287)3.32752782
80T cell differentiation involved in immune response (GO:0002292)3.32752782
81negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)3.32132746
82regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.32128337
83cellular extravasation (GO:0045123)3.29446926
84* T cell differentiation (GO:0030217)3.26443831
85positive regulation of humoral immune response (GO:0002922)3.24378663
86positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.22558011
87B cell mediated immunity (GO:0019724)3.21001869
88negative regulation of B cell proliferation (GO:0030889)3.19954649
89negative regulation of leukocyte mediated immunity (GO:0002704)3.18989273
90defense response to protozoan (GO:0042832)3.18708560
91negative regulation of interleukin-12 production (GO:0032695)3.17587325
92CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)3.17564404
93T-helper cell differentiation (GO:0042093)3.17564404
94interferon-gamma-mediated signaling pathway (GO:0060333)3.15117722
95regulation of chronic inflammatory response (GO:0002676)3.14791206
96negative regulation of lymphocyte mediated immunity (GO:0002707)3.14128946
97T cell homeostasis (GO:0043029)3.13593279
98neutrophil activation (GO:0042119)3.13378725
99response to protozoan (GO:0001562)3.13268485
100actin nucleation (GO:0045010)3.12891751
101NIK/NF-kappaB signaling (GO:0038061)3.11649247
102myeloid dendritic cell activation (GO:0001773)3.11457373
103modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.11323654
104positive regulation by organism of defense response of other organism involved in symbiotic interact3.11323654
105modulation by symbiont of host immune response (GO:0052553)3.11323654
106positive regulation by symbiont of host defense response (GO:0052509)3.11323654
107modulation by symbiont of host defense response (GO:0052031)3.11323654
108modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.11323654
109regulation of lymphocyte mediated immunity (GO:0002706)3.10743565
110leukocyte cell-cell adhesion (GO:0007159)3.10378157
111granulocyte activation (GO:0036230)3.09852416
112positive regulation of lymphocyte mediated immunity (GO:0002708)3.09048498
113response to type I interferon (GO:0034340)3.08843741
114myeloid cell activation involved in immune response (GO:0002275)3.08806952
115positive regulation of tolerance induction (GO:0002645)3.08496731
116positive regulation of T cell mediated cytotoxicity (GO:0001916)3.08165580
117cellular response to type I interferon (GO:0071357)3.07751265
118type I interferon signaling pathway (GO:0060337)3.07751265
119Arp2/3 complex-mediated actin nucleation (GO:0034314)3.06066219
120natural killer cell activation (GO:0030101)3.05505743
121leukocyte degranulation (GO:0043299)3.02607585
122T cell activation involved in immune response (GO:0002286)3.01463531
123* T cell activation (GO:0042110)2.99636750
124positive regulation of B cell activation (GO:0050871)2.99590737
125T cell lineage commitment (GO:0002360)2.98900964
126regulation of tolerance induction (GO:0002643)2.97969601
127cellular defense response (GO:0006968)2.97173354
128antigen processing and presentation via MHC class Ib (GO:0002475)2.96418666
129DNA deamination (GO:0045006)2.95979427
130response to peptidoglycan (GO:0032494)2.92583745
131regulation of alpha-beta T cell activation (GO:0046634)2.90152387
132regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.87875097
133T cell proliferation (GO:0042098)2.87621293
134positive regulation of defense response to virus by host (GO:0002230)2.87462345
135response to muramyl dipeptide (GO:0032495)2.87044134
136regulation of antigen processing and presentation (GO:0002577)2.86010702
137dendritic cell chemotaxis (GO:0002407)2.83917470

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse8.03967679
2* STAT6_20620947_ChIP-Seq_CD4_POS_T_Human6.05368915
3IRF8_22096565_ChIP-ChIP_GC-B_Human4.61200960
4IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.42797864
5STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.96470487
6STAT4_19710469_ChIP-ChIP_TH1__Mouse3.72963574
7IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.69443396
8RUNX_20019798_ChIP-Seq_JUKART_Human3.52794039
9E2F7_22180533_ChIP-Seq_HELA_Human3.51766122
10IRF8_21731497_ChIP-ChIP_J774_Mouse3.48360609
11* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.45895635
12* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse3.36291831
13* MYB_26560356_Chip-Seq_TH2_Human3.13404243
14NOTCH1_21737748_ChIP-Seq_TLL_Human3.11302142
15SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.08631042
16BP1_19119308_ChIP-ChIP_Hs578T_Human3.07783284
17MYC_22102868_ChIP-Seq_BL_Human2.63119749
18* MYB_26560356_Chip-Seq_TH1_Human2.61335981
19MAF_26560356_Chip-Seq_TH1_Human2.58183214
20* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.50139854
21* IRF8_27001747_Chip-Seq_BMDM_Mouse2.48283525
22* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.40465014
23GATA1_22025678_ChIP-Seq_K562_Human2.39108313
24SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.36130296
25SCL_19346495_ChIP-Seq_HPC-7_Human2.33316601
26UTX_26944678_Chip-Seq_JUKART_Human2.25721427
27MYB_21317192_ChIP-Seq_ERMYB_Mouse2.20462093
28* SPI1_23547873_ChIP-Seq_NB4_Human2.20275061
29* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.16624066
30ELF1_17652178_ChIP-ChIP_JURKAT_Human2.13275582
31CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.01418854
32FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.00404317
33* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.98426088
34* RUNX1_22412390_ChIP-Seq_EML_Mouse1.96520184
35GATA3_27048872_Chip-Seq_THYMUS_Human1.85634270
36VDR_21846776_ChIP-Seq_THP-1_Human1.78343785
37EGR1_19374776_ChIP-ChIP_THP-1_Human1.75903835
38MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.75464560
39ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.71210779
40MAF_26560356_Chip-Seq_TH2_Human1.68428119
41VDR_24763502_ChIP-Seq_THP-1_Human1.63539246
42E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.61985134
43SMAD_19615063_ChIP-ChIP_OVARY_Human1.56769094
44RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.53479249
45BRD4_27068464_Chip-Seq_AML-cells_Mouse1.53164029
46LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.53149925
47TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.48697945
48PU_27001747_Chip-Seq_BMDM_Mouse1.47836858
49SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.44411003
50LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.42859584
51TCF7_22412390_ChIP-Seq_EML_Mouse1.42630390
52GATA2_22383799_ChIP-Seq_G1ME_Mouse1.40876473
53* RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.34060966
54* SPI1_23127762_ChIP-Seq_K562_Human1.32831730
55NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.30435004
56* GATA3_26560356_Chip-Seq_TH2_Human1.30356155
57VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.25887260
58KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.24975114
59* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.22529601
60* VDR_23849224_ChIP-Seq_CD4+_Human1.22272474
61CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.20613783
62* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.18758179
63GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.17693303
64CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.17412438
65NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.14668329
66* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.10946782
67HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.10880658
68CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.09823807
69E2F4_17652178_ChIP-ChIP_JURKAT_Human1.09445178
70PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.06412522
71* FOXP3_21729870_ChIP-Seq_TREG_Human1.05294253
72VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.03851834
73BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.03541115
74PU.1_20513432_ChIP-Seq_Bcells_Mouse0.99968745
75GATA1_22383799_ChIP-Seq_G1ME_Mouse0.99295516
76KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.98918694
77SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.97481452
78NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.96560532
79GATA3_26560356_Chip-Seq_TH1_Human0.95617808
80CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.95572732
81CIITA_25753668_ChIP-Seq_RAJI_Human0.95537186
82ELK1_19687146_ChIP-ChIP_HELA_Human0.94451406
83SMRT_27268052_Chip-Seq_Bcells_Human0.93797172
84SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.93717743
85FLI1_27457419_Chip-Seq_LIVER_Mouse0.93094794
86VDR_24787735_ChIP-Seq_THP-1_Human0.89913864
87STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.87560308
88* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.87276113
89PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.86252994
90GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86149883
91BCL6_27268052_Chip-Seq_Bcells_Human0.83718971
92PCGF2_27294783_Chip-Seq_ESCs_Mouse0.82742579
93NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.82435443
94PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.80565555
95FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.80376280
96PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.80075282
97TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.79917588
98* GATA1_19941827_ChIP-Seq_MEL_Mouse0.78912581
99TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.78222955
100TP63_19390658_ChIP-ChIP_HaCaT_Human0.77044862
101FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.75954089
102SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.74507912
103KDM2B_26808549_Chip-Seq_DND41_Human0.72776798
104FOXM1_23109430_ChIP-Seq_U2OS_Human0.72592724
105P300_27268052_Chip-Seq_Bcells_Human0.71428669
106* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.71426858
107EGR1_23403033_ChIP-Seq_LIVER_Mouse0.68124155
108GATA2_21666600_ChIP-Seq_HMVEC_Human0.67694088
109EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.67168635
110GATA1_19941826_ChIP-Seq_K562_Human0.66995707
111RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.66426084
112GATA2_19941826_ChIP-Seq_K562_Human0.66178184
113PCGF2_27294783_Chip-Seq_NPCs_Mouse0.65985993
114ETS1_22383799_ChIP-Seq_G1ME_Mouse0.65354525
115KDM2B_26808549_Chip-Seq_SUP-B15_Human0.64186390
116GABP_17652178_ChIP-ChIP_JURKAT_Human0.62982682

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005671_abnormal_response_to5.05362064
2* MP0003763_abnormal_thymus_physiology4.62543769
3MP0001835_abnormal_antigen_presentation4.19236461
4MP0009785_altered_susceptibility_to3.34617944
5MP0000685_abnormal_immune_system3.30980779
6* MP0001800_abnormal_humoral_immune3.26123484
7MP0005387_immune_system_phenotype3.08974772
8MP0001790_abnormal_immune_system3.08974772
9* MP0005000_abnormal_immune_tolerance3.05499742
10MP0001873_stomach_inflammation2.88399156
11MP0009333_abnormal_splenocyte_physiolog2.87681259
12* MP0002723_abnormal_immune_serum2.84870240
13* MP0002420_abnormal_adaptive_immunity2.82983874
14* MP0001819_abnormal_immune_cell2.80206690
15MP0005025_abnormal_response_to2.75667867
16* MP0002452_abnormal_antigen_presenting2.72480028
17MP0006082_CNS_inflammation2.67669458
18* MP0002398_abnormal_bone_marrow2.64780468
19MP0003436_decreased_susceptibility_to2.64180444
20MP0002166_altered_tumor_susceptibility2.56662797
21MP0003724_increased_susceptibility_to2.53370578
22* MP0002405_respiratory_system_inflammati2.43028208
23MP0002148_abnormal_hypersensitivity_rea2.41210896
24* MP0000716_abnormal_immune_system2.36116534
25MP0002396_abnormal_hematopoietic_system2.27011681
26MP0000703_abnormal_thymus_morphology2.24562127
27MP0002006_tumorigenesis2.24141764
28MP0002419_abnormal_innate_immunity2.17197296
29MP0010155_abnormal_intestine_physiology2.15996993
30* MP0002722_abnormal_immune_system2.11184353
31* MP0000689_abnormal_spleen_morphology2.08355528
32MP0001853_heart_inflammation2.07454380
33MP0003303_peritoneal_inflammation2.01917041
34* MP0002429_abnormal_blood_cell1.92882316
35MP0003300_gastrointestinal_ulcer1.86819273
36MP0004947_skin_inflammation1.85275945
37MP0003866_abnormal_defecation1.85163013
38MP0005464_abnormal_platelet_physiology1.77267952
39MP0002933_joint_inflammation1.73919052
40* MP0001845_abnormal_inflammatory_respons1.72218757
41MP0000858_altered_metastatic_potential1.68297695
42MP0005075_abnormal_melanosome_morpholog1.64587087
43MP0004381_abnormal_hair_follicle1.58215249
44MP0003172_abnormal_lysosome_physiology1.47990816
45MP0005310_abnormal_salivary_gland1.46139380
46MP0000490_abnormal_crypts_of1.45718065
47MP0000465_gastrointestinal_hemorrhage1.44518507
48MP0004510_myositis1.40938661
49MP0002132_abnormal_respiratory_system1.38870660
50MP0004808_abnormal_hematopoietic_stem1.38426738
51MP0003183_abnormal_peptide_metabolism1.36081036
52MP0005174_abnormal_tail_pigmentation1.35174198
53MP0003448_altered_tumor_morphology1.27145499
54MP0001533_abnormal_skeleton_physiology1.26742646
55MP0008469_abnormal_protein_level1.21457184
56MP0008057_abnormal_DNA_replication1.17799726
57MP0002009_preneoplasia1.16613290
58MP0003191_abnormal_cellular_cholesterol1.13713478
59MP0000015_abnormal_ear_pigmentation1.12283382
60MP0005397_hematopoietic_system_phenotyp1.11900628
61MP0001545_abnormal_hematopoietic_system1.11900628
62MP0002019_abnormal_tumor_incidence1.00018692
63MP0001851_eye_inflammation0.98350503
64MP0002998_abnormal_bone_remodeling0.98090435
65MP0003828_pulmonary_edema0.92667300
66MP0008007_abnormal_cellular_replicative0.88776010
67MP0002095_abnormal_skin_pigmentation0.87772852
68MP0003075_altered_response_to0.86366026
69MP0005451_abnormal_body_composition0.85816312
70MP0009764_decreased_sensitivity_to0.81600225
71MP0001663_abnormal_digestive_system0.81597623
72MP0002163_abnormal_gland_morphology0.81163223
73MP0010094_abnormal_chromosome_stability0.77237457
74MP0003693_abnormal_embryo_hatching0.75715429
75MP0008058_abnormal_DNA_repair0.74180284
76MP0003656_abnormal_erythrocyte_physiolo0.73176435
77MP0009763_increased_sensitivity_to0.72077063
78MP0005058_abnormal_lysosome_morphology0.70995540
79MP0003077_abnormal_cell_cycle0.70304129
80MP0000604_amyloidosis0.70013052
81MP0003806_abnormal_nucleotide_metabolis0.69377916
82MP0000569_abnormal_digit_pigmentation0.66944295
83MP0003045_fibrosis0.66548915
84MP0008260_abnormal_autophagy0.59562182
85MP0002277_abnormal_respiratory_mucosa0.58444279
86MP0005166_decreased_susceptibility_to0.58273516
87MP0003795_abnormal_bone_structure0.57490454
88MP0002138_abnormal_hepatobiliary_system0.56585364
89MP0009765_abnormal_xenobiotic_induced0.56392450
90MP0000372_irregular_coat_pigmentation0.56102771
91MP0001986_abnormal_taste_sensitivity0.55758901
92MP0004883_abnormal_blood_vessel0.55338447
93MP0003252_abnormal_bile_duct0.54550202
94MP0005390_skeleton_phenotype0.54509506
95MP0010307_abnormal_tumor_latency0.54110872
96MP0001881_abnormal_mammary_gland0.52315853
97MP0002693_abnormal_pancreas_physiology0.51693113
98MP0000371_diluted_coat_color0.50688546
99MP0000343_altered_response_to0.49793214
100MP0000477_abnormal_intestine_morphology0.48676536
101MP0003786_premature_aging0.47654381
102MP0001765_abnormal_ion_homeostasis0.46263937
103MP0002876_abnormal_thyroid_physiology0.45714903
104* MP0000609_abnormal_liver_physiology0.44684399
105* MP0002136_abnormal_kidney_physiology0.44592437
106MP0000313_abnormal_cell_death0.44368803
107MP0003690_abnormal_glial_cell0.44008344
108MP0009278_abnormal_bone_marrow0.43833875
109MP0000249_abnormal_blood_vessel0.42992005
110MP0005164_abnormal_response_to0.42535413
111MP0001191_abnormal_skin_condition0.42237741
112MP0001348_abnormal_lacrimal_gland0.42052860
113MP0005379_endocrine/exocrine_gland_phen0.42007728
114MP0008961_abnormal_basal_metabolism0.41836825
115MP0009840_abnormal_foam_cell0.41670401
116MP0003111_abnormal_nucleus_morphology0.40962985
117MP0001919_abnormal_reproductive_system0.40795823
118MP0003943_abnormal_hepatobiliary_system0.39468335
119MP0005023_abnormal_wound_healing0.38845924
120MP0001216_abnormal_epidermal_layer0.36673265
121MP0004782_abnormal_surfactant_physiolog0.35937105
122MP0004957_abnormal_blastocyst_morpholog0.35720815

Predicted human phenotypes

RankGene SetZ-score
1T lymphocytopenia (HP:0005403)6.21881955
2Abnormality of T cell number (HP:0011839)5.99932484
3Myositis (HP:0100614)5.43849907
4Retrobulbar optic neuritis (HP:0100654)5.21851612
5Optic neuritis (HP:0100653)5.21851612
6Stomatitis (HP:0010280)5.15070390
7Severe combined immunodeficiency (HP:0004430)5.12735274
8Elevated erythrocyte sedimentation rate (HP:0003565)5.07698697
9Abnormality of T cells (HP:0002843)4.77826230
10Combined immunodeficiency (HP:0005387)4.64595805
11Orchitis (HP:0100796)4.62617946
12IgM deficiency (HP:0002850)4.41091291
13Recurrent bronchitis (HP:0002837)4.36714196
14Recurrent fungal infections (HP:0002841)4.35076497
15IgG deficiency (HP:0004315)4.29594454
16Eczematoid dermatitis (HP:0000976)4.25086196
17Panhypogammaglobulinemia (HP:0003139)4.15726401
18Recurrent cutaneous fungal infections (HP:0011370)4.08969692
19Chronic mucocutaneous candidiasis (HP:0002728)4.08969692
20Recurrent viral infections (HP:0004429)3.94836715
21B lymphocytopenia (HP:0010976)3.93735449
22Abnormality of B cell number (HP:0010975)3.93735449
23Thyroiditis (HP:0100646)3.88464053
24Chronic otitis media (HP:0000389)3.86790561
25Recurrent abscess formation (HP:0002722)3.85363781
26* Meningitis (HP:0001287)3.70741301
27Abnormality of eosinophils (HP:0001879)3.65381626
28Keratoconjunctivitis sicca (HP:0001097)3.58070345
29Chronic diarrhea (HP:0002028)3.54138017
30Abnormal delayed hypersensitivity skin test (HP:0002963)3.52883741
31Increased IgM level (HP:0003496)3.50899175
32Encephalitis (HP:0002383)3.50265399
33Nasal polyposis (HP:0100582)3.48458520
34Abnormality of T cell physiology (HP:0011840)3.43246246
35* Vasculitis (HP:0002633)3.38070055
36Keratoconjunctivitis (HP:0001096)3.33360051
37Lymphopenia (HP:0001888)3.29152432
38Agammaglobulinemia (HP:0004432)3.25364100
39Leukocytosis (HP:0001974)3.25357989
40Autoimmune hemolytic anemia (HP:0001890)3.17532787
41Eosinophilia (HP:0001880)3.17517815
42Abnormality of cells of the lymphoid lineage (HP:0012140)3.16399730
43* Pulmonary infiltrates (HP:0002113)3.15283932
44* Hemoptysis (HP:0002105)3.13615377
45Thrombocytosis (HP:0001894)3.12243638
46Pustule (HP:0200039)3.01788246
47Recurrent bacterial skin infections (HP:0005406)2.99381274
48Lymphoma (HP:0002665)2.96437261
49Recurrent sinusitis (HP:0011108)2.95221596
50Recurrent skin infections (HP:0001581)2.92381127
51Cheilitis (HP:0100825)2.90093280
52Abnormality of the nasal mucosa (HP:0000433)2.88684725
53* Obstructive lung disease (HP:0006536)2.87941603
54* Chronic obstructive pulmonary disease (HP:0006510)2.87941603
55Granulocytopenia (HP:0001913)2.86414703
56Autoimmune thrombocytopenia (HP:0001973)2.85554570
57IgA deficiency (HP:0002720)2.80036210
58Abnormality of the fingertips (HP:0001211)2.77866931
59Inflammation of the large intestine (HP:0002037)2.71189708
60* Mediastinal lymphadenopathy (HP:0100721)2.68676796
61Urticaria (HP:0001025)2.66300632
62Gastrointestinal inflammation (HP:0004386)2.62399878
63Hypoplasia of the thymus (HP:0000778)2.58687890
64Papilledema (HP:0001085)2.56536840
65* Gastrointestinal infarctions (HP:0005244)2.52330096
66* Abnormality of the prostate (HP:0008775)2.51041434
67Hypergammaglobulinemia (HP:0010702)2.42974514
68Verrucae (HP:0200043)2.41669221
69Papilloma (HP:0012740)2.41669221
70Keratitis (HP:0000491)2.38867489
71Bronchitis (HP:0012387)2.37625581
72* Arterial thrombosis (HP:0004420)2.36161086
73* Joint swelling (HP:0001386)2.33477584
74Prolonged bleeding time (HP:0003010)2.32092923
75Acute hepatic failure (HP:0006554)2.31228500
76Osteomyelitis (HP:0002754)2.26765658
77Petechiae (HP:0000967)2.26566494
78Hypoproteinemia (HP:0003075)2.25786490
79* Epistaxis (HP:0000421)2.25690121
80* Skin rash (HP:0000988)2.23403406
81Gastrointestinal stroma tumor (HP:0100723)2.22237252
82Spontaneous hematomas (HP:0007420)2.21057693
83* Abnormality of the pleura (HP:0002103)2.19356960
84Periodontitis (HP:0000704)2.19117104
85Gingivitis (HP:0000230)2.19066601
86Gingival bleeding (HP:0000225)2.15424905
87Hypochromic anemia (HP:0001931)2.12459121
88Increased IgE level (HP:0003212)2.10732584
89Abnormality of macrophages (HP:0004311)2.09396433
90Sepsis (HP:0100806)2.08107073
91Chronic sinusitis (HP:0011109)2.06836353
92* Gangrene (HP:0100758)2.04312644
93Abnormality of liposaccharide metabolism (HP:0010968)2.01747217
94Abnormality of glycosphingolipid metabolism (HP:0004343)2.01747217
95Abnormality of glycolipid metabolism (HP:0010969)2.01747217
96* Glomerulopathy (HP:0100820)2.01414652
97Prostate neoplasm (HP:0100787)1.98712653
98* Pulmonary embolism (HP:0002204)1.96178079
99Fatigue (HP:0012378)1.96073420
100Alveolar cell carcinoma (HP:0006519)1.95782108
101* Restrictive lung disease (HP:0002091)1.91127739
102Premature loss of primary teeth (HP:0006323)1.88430439
103Aplasia/Hypoplasia of the thymus (HP:0010515)1.87613413
104Colitis (HP:0002583)1.86589218
105Aplastic anemia (HP:0001915)1.84958595
106Emphysema (HP:0002097)1.84152555
107Abnormality of the endocardium (HP:0004306)1.81683450
108Reduced antithrombin III activity (HP:0001976)1.81564764
109Recurrent gram-negative bacterial infections (HP:0005420)1.80501781
110* Arthralgia (HP:0002829)1.79497330
111Cellulitis (HP:0100658)1.78394947
112* Chest pain (HP:0100749)1.78183865
113Recurrent otitis media (HP:0000403)1.77644561
114Neutropenia (HP:0001875)1.77111166
115Type I transferrin isoform profile (HP:0003642)1.75921903
116* Skin ulcer (HP:0200042)1.75800367
117Acute myeloid leukemia (HP:0004808)1.75302275
118Recurrent pneumonia (HP:0006532)1.73943459
119Bronchiectasis (HP:0002110)1.73378847

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TXK7.43642374
2MAP4K15.16891286
3ITK3.34604379
4JAK32.85030119
5MAP3K142.78716363
6ZAP702.67550474
7TEC2.56847488
8IKBKE2.48727749
9NLK2.25832535
10TYK22.15440591
11JAK12.08355501
12IRAK42.05270208
13BTK1.97927643
14STK101.85413955
15TBK11.81405859
16LCK1.77172684
17FGFR41.70952615
18IKBKB1.66234373
19NME21.65238419
20CSK1.59627884
21KIT1.57113547
22SYK1.55293693
23GRK61.46528463
24IRAK31.43364654
25MST41.41216499
26HCK1.40795600
27SIK31.39859042
28BLK1.39714034
29FGFR31.39362396
30PIK3CG1.23590357
31TAOK21.21699058
32PRPF4B1.20491361
33CLK11.19944866
34TAOK31.16135057
35FES1.14439164
36CAMKK21.13943781
37PIM11.13430545
38MAP2K31.12760891
39MATK1.12299979
40MAP3K121.09926883
41MAP3K131.08702206
42CHUK1.07220165
43LYN1.02762128
44TAOK10.95196577
45MARK30.94354029
46ERN10.92343183
47PRKCQ0.90519116
48KDR0.88822668
49TNIK0.81468739
50TNK20.79330737
51TGFBR20.77502606
52JAK20.75154660
53CSF1R0.74826118
54SIK20.74584807
55FGR0.70292883
56IRAK10.70156300
57FRK0.68177554
58MAP3K110.67795492
59MAP2K20.67449500
60RPS6KA40.67391207
61GRK70.67241238
62NUAK10.64057861
63EPHA30.62313217
64EIF2AK30.62076972
65PIM20.61852818
66BCKDK0.61341981
67MAP2K60.60167886
68TSSK60.58386261
69EPHB10.58365552
70MKNK20.57754479
71MAPK70.56111464
72MAP3K10.52754346
73PRKCH0.52172550
74CDK40.51737614
75MAP3K30.51410907
76SCYL20.50292810
77MAP4K20.48957772
78EIF2AK20.48266260
79MAPK120.47916868
80LRRK20.46127665
81ZAK0.45578224
82TESK20.45377774
83NEK90.41749954
84RIPK40.41733686
85BMPR20.40890848
86CAMKK10.40478612
87STK240.40048051
88EEF2K0.39795633
89ADRBK20.37814935
90IGF1R0.37590076
91MUSK0.36966770
92EIF2AK10.36947219
93SRPK10.36656531
94MAP3K70.36228354
95CDK90.35341761
96PRKD20.34436430
97HIPK20.33886114
98STK40.33603758
99TLK10.31162598
100MAPK110.30712544
101IRAK20.30470539
102FYN0.30332790
103PASK0.29858835
104EGFR0.28991951
105ABL10.27084909
106RPS6KA50.26944558
107YES10.25357188
108* PRKCD0.24672920
109MAPK40.24663827
110MAPK30.23886409
111VRK10.23794546
112TGFBR10.23643251
113TRPM70.23195107
114MELK0.22977778
115ATR0.22680872
116INSR0.22471568
117CDK60.22429350
118MAPKAPK20.22061089
119CDC70.20435204
120RPS6KA60.19935354
121PDK10.19796378
122MAP3K50.18458839
123RPS6KC10.17677253
124RPS6KL10.17677253

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053404.75651620
2Allograft rejection_Homo sapiens_hsa053303.75627975
3Graft-versus-host disease_Homo sapiens_hsa053323.68279992
4Inflammatory bowel disease (IBD)_Homo sapiens_hsa053213.43929523
5T cell receptor signaling pathway_Homo sapiens_hsa046603.12107450
6Intestinal immune network for IgA production_Homo sapiens_hsa046723.06284112
7Autoimmune thyroid disease_Homo sapiens_hsa053202.80603432
8Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.80424554
9Measles_Homo sapiens_hsa051622.71361815
10NF-kappa B signaling pathway_Homo sapiens_hsa040642.58625475
11Antigen processing and presentation_Homo sapiens_hsa046122.49840934
12Leishmaniasis_Homo sapiens_hsa051402.26202065
13Hematopoietic cell lineage_Homo sapiens_hsa046402.16097539
14Jak-STAT signaling pathway_Homo sapiens_hsa046301.95261683
15Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.92088254
16Asthma_Homo sapiens_hsa053101.80999300
17Osteoclast differentiation_Homo sapiens_hsa043801.77126651
18RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.65561799
19B cell receptor signaling pathway_Homo sapiens_hsa046621.63873491
20Herpes simplex infection_Homo sapiens_hsa051681.63766661
21Type I diabetes mellitus_Homo sapiens_hsa049401.60740785
22Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.52470295
23Viral myocarditis_Homo sapiens_hsa054161.41308269
24NOD-like receptor signaling pathway_Homo sapiens_hsa046211.34421690
25Toll-like receptor signaling pathway_Homo sapiens_hsa046201.32656099
26Toxoplasmosis_Homo sapiens_hsa051451.30681902
27Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.26543309
28Malaria_Homo sapiens_hsa051441.25192134
29Influenza A_Homo sapiens_hsa051641.22013130
30Chemokine signaling pathway_Homo sapiens_hsa040621.15910467
31TNF signaling pathway_Homo sapiens_hsa046681.11217614
32DNA replication_Homo sapiens_hsa030301.10757673
33Hepatitis B_Homo sapiens_hsa051611.09337799
34Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.08982939
35Systemic lupus erythematosus_Homo sapiens_hsa053221.04332331
36Ribosome_Homo sapiens_hsa030101.03173476
37Apoptosis_Homo sapiens_hsa042101.01715452
38Acute myeloid leukemia_Homo sapiens_hsa052211.00683329
39Base excision repair_Homo sapiens_hsa034100.98782695
40Leukocyte transendothelial migration_Homo sapiens_hsa046700.96603981
41Legionellosis_Homo sapiens_hsa051340.94923236
42Shigellosis_Homo sapiens_hsa051310.94073882
43Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.91465835
44Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.90730032
45Non-homologous end-joining_Homo sapiens_hsa034500.89240993
46Tuberculosis_Homo sapiens_hsa051520.88941598
47Epstein-Barr virus infection_Homo sapiens_hsa051690.86277374
48Homologous recombination_Homo sapiens_hsa034400.85241743
49HTLV-I infection_Homo sapiens_hsa051660.83152189
50Staphylococcus aureus infection_Homo sapiens_hsa051500.82143835
51Rheumatoid arthritis_Homo sapiens_hsa053230.80590585
52Transcriptional misregulation in cancer_Homo sapiens_hsa052020.78651869
53Phagosome_Homo sapiens_hsa041450.78349819
54Hepatitis C_Homo sapiens_hsa051600.75520271
55Pertussis_Homo sapiens_hsa051330.74709310
56Mismatch repair_Homo sapiens_hsa034300.73319326
57p53 signaling pathway_Homo sapiens_hsa041150.71597433
58African trypanosomiasis_Homo sapiens_hsa051430.69521995
59Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.68571902
60Spliceosome_Homo sapiens_hsa030400.68404496
61Fanconi anemia pathway_Homo sapiens_hsa034600.67329780
62Platelet activation_Homo sapiens_hsa046110.66837151
63Salmonella infection_Homo sapiens_hsa051320.66834748
64Pancreatic cancer_Homo sapiens_hsa052120.63822721
65Prolactin signaling pathway_Homo sapiens_hsa049170.61651177
66RNA degradation_Homo sapiens_hsa030180.57145999
67Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.55633598
68Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.55544546
69AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.54239913
70Viral carcinogenesis_Homo sapiens_hsa052030.53166522
71Chronic myeloid leukemia_Homo sapiens_hsa052200.52502961
72Other glycan degradation_Homo sapiens_hsa005110.51861087
73Lysosome_Homo sapiens_hsa041420.50874290
74Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.49839618
75Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.46910968
76Colorectal cancer_Homo sapiens_hsa052100.45904414
77Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.44396854
78Nucleotide excision repair_Homo sapiens_hsa034200.42894219
79Small cell lung cancer_Homo sapiens_hsa052220.41397083
80Glycosaminoglycan degradation_Homo sapiens_hsa005310.39339204
81Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.38708013
82Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.37745353
83Notch signaling pathway_Homo sapiens_hsa043300.33768449
84Carbohydrate digestion and absorption_Homo sapiens_hsa049730.31929199
85Neurotrophin signaling pathway_Homo sapiens_hsa047220.31920627
86VEGF signaling pathway_Homo sapiens_hsa043700.31894053
87Pyrimidine metabolism_Homo sapiens_hsa002400.31101350
88Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.30550275
89Thyroid cancer_Homo sapiens_hsa052160.30459715
90Basal transcription factors_Homo sapiens_hsa030220.30195106
91FoxO signaling pathway_Homo sapiens_hsa040680.30134729
92RNA polymerase_Homo sapiens_hsa030200.29559680
93Sphingolipid signaling pathway_Homo sapiens_hsa040710.29407238
94Endocytosis_Homo sapiens_hsa041440.27731576
95Caffeine metabolism_Homo sapiens_hsa002320.26163879
96Cell cycle_Homo sapiens_hsa041100.25830542
97Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.25676578
98Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.25220015
99Dorso-ventral axis formation_Homo sapiens_hsa043200.24190560
100Regulation of actin cytoskeleton_Homo sapiens_hsa048100.24060598
101Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.22441996
102Proteasome_Homo sapiens_hsa030500.22087372
103alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.21732438
104Phosphatidylinositol signaling system_Homo sapiens_hsa040700.21161543
105Non-small cell lung cancer_Homo sapiens_hsa052230.20954605
106Regulation of autophagy_Homo sapiens_hsa041400.20318527
107Inositol phosphate metabolism_Homo sapiens_hsa005620.19719393
108Adipocytokine signaling pathway_Homo sapiens_hsa049200.18431570
109MAPK signaling pathway_Homo sapiens_hsa040100.18206706
110SNARE interactions in vesicular transport_Homo sapiens_hsa041300.17961904
111mRNA surveillance pathway_Homo sapiens_hsa030150.17109832
112Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.17048071
113Glycerophospholipid metabolism_Homo sapiens_hsa005640.15692939
114Insulin resistance_Homo sapiens_hsa049310.12694780
115Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.11744956
116Choline metabolism in cancer_Homo sapiens_hsa052310.10943637
117Linoleic acid metabolism_Homo sapiens_hsa005910.10029595
118Ether lipid metabolism_Homo sapiens_hsa005650.06746642
119Arachidonic acid metabolism_Homo sapiens_hsa005900.06345384
120Phospholipase D signaling pathway_Homo sapiens_hsa040720.04332251
121HIF-1 signaling pathway_Homo sapiens_hsa040660.03848848
122Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.03484758
123mTOR signaling pathway_Homo sapiens_hsa041500.02834423
124Alcoholism_Homo sapiens_hsa050340.02537557
125Renal cell carcinoma_Homo sapiens_hsa052110.02388810

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