CD3E

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 the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive T cell selection (GO:0043368)8.18343083
2positive regulation of gamma-delta T cell activation (GO:0046645)8.09304088
3positive thymic T cell selection (GO:0045059)8.08658546
4* negative T cell selection (GO:0043383)8.00415464
5* negative thymic T cell selection (GO:0045060)7.18338436
6regulation of isotype switching to IgG isotypes (GO:0048302)7.16222329
7positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)7.13621830
8regulation of gamma-delta T cell differentiation (GO:0045586)7.00994621
9negative regulation of cell killing (GO:0031342)6.83738118
10negative regulation of leukocyte mediated cytotoxicity (GO:0001911)6.83738118
11interferon-gamma production (GO:0032609)6.83217384
12cellular response to interleukin-15 (GO:0071350)6.77000233
13* T cell selection (GO:0045058)6.66305423
14* thymic T cell selection (GO:0045061)6.63882040
15response to interleukin-15 (GO:0070672)6.63261919
16leukocyte aggregation (GO:0070486)6.55552962
17regulation of gamma-delta T cell activation (GO:0046643)6.31471035
18antigen processing and presentation of endogenous peptide antigen (GO:0002483)6.29575882
19antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)6.29575882
20* T cell receptor signaling pathway (GO:0050852)6.22049615
21* T cell costimulation (GO:0031295)5.77451820
22* lymphocyte costimulation (GO:0031294)5.72019803
23T cell migration (GO:0072678)5.68666827
24activated T cell proliferation (GO:0050798)5.27689189
25antigen processing and presentation of endogenous antigen (GO:0019883)5.24825406
26* positive regulation of interleukin-2 biosynthetic process (GO:0045086)5.19163626
27tolerance induction (GO:0002507)5.15790814
28* antigen receptor-mediated signaling pathway (GO:0050851)5.13941982
29regulation of T cell receptor signaling pathway (GO:0050856)5.09646545
30regulation of B cell receptor signaling pathway (GO:0050855)4.93920121
31regulation of antigen receptor-mediated signaling pathway (GO:0050854)4.80646091
32positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)4.63391953
33positive regulation of natural killer cell mediated immunity (GO:0002717)4.63391953
34regulation of natural killer cell mediated cytotoxicity (GO:0042269)4.49974445
35regulation of natural killer cell mediated immunity (GO:0002715)4.49974445
36mast cell activation (GO:0045576)4.37030324
37sequestering of actin monomers (GO:0042989)4.36711836
38regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)4.32153241
39regulation of regulatory T cell differentiation (GO:0045589)4.30783672
40T cell differentiation (GO:0030217)4.25653256
41regulation of isotype switching (GO:0045191)4.24753680
42alpha-beta T cell differentiation (GO:0046632)4.12361173
43negative regulation of T cell receptor signaling pathway (GO:0050860)4.11527473
44positive regulation of isotype switching (GO:0045830)4.10025179
45alpha-beta T cell activation (GO:0046631)4.04168940
46* regulation of interleukin-2 biosynthetic process (GO:0045076)4.00114007
47regulation of defense response to virus by virus (GO:0050690)3.98087092
48antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.97563379
49positive regulation of B cell differentiation (GO:0045579)3.95935853
50negative regulation of leukocyte mediated immunity (GO:0002704)3.92259126
51regulation of response to interferon-gamma (GO:0060330)3.91320856
52regulation of interferon-gamma-mediated signaling pathway (GO:0060334)3.89696122
53regulation of immunoglobulin mediated immune response (GO:0002889)3.88062820
54regulation of T cell mediated cytotoxicity (GO:0001914)3.86014831
55negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)3.85021411
56negative regulation of T cell mediated immunity (GO:0002710)3.83124277
57positive regulation of leukocyte mediated cytotoxicity (GO:0001912)3.80952065
58positive regulation of T cell mediated cytotoxicity (GO:0001916)3.80178840
59* T cell activation (GO:0042110)3.76575006
60V(D)J recombination (GO:0033151)3.75844380
61detection of bacterium (GO:0016045)3.75476843
62regulation of B cell mediated immunity (GO:0002712)3.73324563
63regulation of leukocyte mediated cytotoxicity (GO:0001910)3.72266985
64* regulation of alpha-beta T cell proliferation (GO:0046640)3.72034411
65* regulation of T cell tolerance induction (GO:0002664)3.70499985
66positive regulation of B cell mediated immunity (GO:0002714)3.69640752
67positive regulation of immunoglobulin mediated immune response (GO:0002891)3.69640752
68leukocyte cell-cell adhesion (GO:0007159)3.69059528
69* positive regulation of interleukin-2 production (GO:0032743)3.66993777
70positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.66143354
71detection of other organism (GO:0098543)3.64082768
72regulation of immunoglobulin production (GO:0002637)3.61136109
73B cell receptor signaling pathway (GO:0050853)3.60709057
74positive regulation of DNA recombination (GO:0045911)3.55618277
75* immune response-activating cell surface receptor signaling pathway (GO:0002429)3.54814641
76cellular response to type I interferon (GO:0071357)3.51717701
77type I interferon signaling pathway (GO:0060337)3.51717701
78negative regulation of lymphocyte mediated immunity (GO:0002707)3.51037253
79positive regulation of cell killing (GO:0031343)3.47976433
80T cell homeostasis (GO:0043029)3.46051885
81cytidine deamination (GO:0009972)3.45605559
82cytidine metabolic process (GO:0046087)3.45605559
83cytidine catabolic process (GO:0006216)3.45605559
84regulation of cell killing (GO:0031341)3.45562212
85Peyers patch development (GO:0048541)3.45225342
86mucosal-associated lymphoid tissue development (GO:0048537)3.45225342
87* positive regulation of alpha-beta T cell proliferation (GO:0046641)3.44685528
88regulation of type I interferon-mediated signaling pathway (GO:0060338)3.44576693
89antigen processing and presentation via MHC class Ib (GO:0002475)3.40822323
90dendritic cell chemotaxis (GO:0002407)3.38935959
91regulation of interleukin-12 biosynthetic process (GO:0045075)3.38727493
92cellular response to interleukin-4 (GO:0071353)3.37697648
93positive regulation of immunoglobulin production (GO:0002639)3.37510284
94positive regulation of humoral immune response (GO:0002922)3.37183516
95natural killer cell activation (GO:0030101)3.36038471
96modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.35078925
97positive regulation by organism of defense response of other organism involved in symbiotic interact3.35078925
98modulation by symbiont of host immune response (GO:0052553)3.35078925
99positive regulation by symbiont of host defense response (GO:0052509)3.35078925
100modulation by symbiont of host defense response (GO:0052031)3.35078925
101modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.35078925
102pyrimidine ribonucleoside catabolic process (GO:0046133)3.34877657
103heterotypic cell-cell adhesion (GO:0034113)3.30701596
104* positive regulation of T cell activation (GO:0050870)3.30610226
105lymphocyte migration (GO:0072676)3.30345346
106respiratory burst (GO:0045730)3.25748780
107positive regulation of immune response to tumor cell (GO:0002839)3.25190600
108regulation of immune response to tumor cell (GO:0002837)3.25190600
109regulation of response to tumor cell (GO:0002834)3.25190600
110positive regulation of response to tumor cell (GO:0002836)3.25190600
111CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)3.24265867
112T-helper cell differentiation (GO:0042093)3.24265867
113mast cell degranulation (GO:0043303)3.22750578
114mast cell activation involved in immune response (GO:0002279)3.22750578
115neutrophil activation involved in immune response (GO:0002283)3.22355311
116negative regulation of interleukin-12 production (GO:0032695)3.20080844
117regulation of B cell differentiation (GO:0045577)3.19893505
118negative regulation of phagocytosis (GO:0050765)3.19829524
119Arp2/3 complex-mediated actin nucleation (GO:0034314)3.17648433
120* regulation of tolerance induction (GO:0002643)3.16074444
121positive regulation of granulocyte differentiation (GO:0030854)3.15914889
122positive regulation of lamellipodium assembly (GO:0010592)3.15034890
123immunoglobulin mediated immune response (GO:0016064)3.14945241
124regulation of granulocyte differentiation (GO:0030852)3.14477562
125dendritic cell migration (GO:0036336)3.12760319
126* regulation of T cell activation (GO:0050863)3.12058620
127negative regulation of T cell apoptotic process (GO:0070233)3.11473249
128cellular extravasation (GO:0045123)3.11349728
129regulation of lymphocyte mediated immunity (GO:0002706)3.10451303
130negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.09339250
131neutrophil activation (GO:0042119)3.08628185
132leukocyte degranulation (GO:0043299)3.08350152
133T cell proliferation (GO:0042098)3.07785838
134response to type I interferon (GO:0034340)3.06900928
135natural killer cell differentiation (GO:0001779)3.04663624
136regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.04623829
137positive regulation of T cell differentiation in thymus (GO:0033089)3.04078770
138response to interleukin-4 (GO:0070670)3.02593549
139negative regulation of innate immune response (GO:0045824)3.02223164
140regulation of T cell mediated immunity (GO:0002709)2.99841004
141negative regulation of adaptive immune response based on somatic recombination of immune receptors b2.97646852
142positive regulation of T cell mediated immunity (GO:0002711)2.96384133

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse8.60981833
2STAT6_20620947_ChIP-Seq_CD4_POS_T_Human6.69572747
3STAT3_20064451_ChIP-Seq_CD4+T_Mouse4.01814648
4RUNX_20019798_ChIP-Seq_JUKART_Human3.97268102
5IRF8_22096565_ChIP-ChIP_GC-B_Human3.84996001
6IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.83498744
7* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse3.68841492
8STAT4_19710469_ChIP-ChIP_TH1__Mouse3.66827539
9IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.61730106
10MYC_22102868_ChIP-Seq_BL_Human3.53551149
11MYB_26560356_Chip-Seq_TH2_Human3.51793868
12E2F7_22180533_ChIP-Seq_HELA_Human3.17092916
13* MAF_26560356_Chip-Seq_TH1_Human3.06032726
14MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.96373879
15* UTX_26944678_Chip-Seq_JUKART_Human2.94240703
16MYB_26560356_Chip-Seq_TH1_Human2.85207573
17SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.65489901
18RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.41495814
19IRF8_21731497_ChIP-ChIP_J774_Mouse2.27739801
20NOTCH1_21737748_ChIP-Seq_TLL_Human2.26869856
21* GATA3_27048872_Chip-Seq_THYMUS_Human2.24749999
22* MAF_26560356_Chip-Seq_TH2_Human2.19578464
23SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.14867164
24NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.11429774
25EGR1_19374776_ChIP-ChIP_THP-1_Human2.08825140
26VDR_21846776_ChIP-Seq_THP-1_Human2.06635561
27* KDM2B_26808549_Chip-Seq_HPB-ALL_Human2.01230294
28ELF1_17652178_ChIP-ChIP_JURKAT_Human1.98439322
29BP1_19119308_ChIP-ChIP_Hs578T_Human1.96409547
30SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.96007084
31RUNX1_22412390_ChIP-Seq_EML_Mouse1.95302081
32SPI1_23547873_ChIP-Seq_NB4_Human1.80258591
33FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.76577816
34* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.75412441
35TCF7_22412390_ChIP-Seq_EML_Mouse1.74522757
36NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.68403345
37SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.65816490
38MYB_21317192_ChIP-Seq_ERMYB_Mouse1.61816866
39SCL_19346495_ChIP-Seq_HPC-7_Human1.58418250
40* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.56218046
41MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.55228098
42* KDM2B_26808549_Chip-Seq_DND41_Human1.54261297
43VDR_24763502_ChIP-Seq_THP-1_Human1.52526476
44SMAD_19615063_ChIP-ChIP_OVARY_Human1.50278175
45EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.49704145
46IRF8_27001747_Chip-Seq_BMDM_Mouse1.48848131
47TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.47710382
48ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.46357468
49* RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.43422584
50VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.39071731
51CIITA_25753668_ChIP-Seq_RAJI_Human1.38078155
52SPI1_23127762_ChIP-Seq_K562_Human1.35612019
53GATA3_26560356_Chip-Seq_TH2_Human1.31100902
54BRD4_27068464_Chip-Seq_AML-cells_Mouse1.27524490
55SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.25564561
56VDR_23849224_ChIP-Seq_CD4+_Human1.24805796
57GATA2_22383799_ChIP-Seq_G1ME_Mouse1.23174619
58FOXP3_21729870_ChIP-Seq_TREG_Human1.22087558
59RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.18429491
60PU_27001747_Chip-Seq_BMDM_Mouse1.13611403
61KDM2B_26808549_Chip-Seq_SUP-B15_Human1.13123238
62STAT6_21828071_ChIP-Seq_BEAS2B_Human1.12931429
63CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.11795027
64BCL6_27268052_Chip-Seq_Bcells_Human1.11173010
65NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.09812263
66PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.07722962
67GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.07284092
68* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.06578292
69CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.03886136
70THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.03803063
71VDR_24787735_ChIP-Seq_THP-1_Human1.03156155
72HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.00906274
73* KDM2B_26808549_Chip-Seq_JURKAT_Human1.00777915
74NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.99361297
75LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.98111545
76ELK3_25401928_ChIP-Seq_HUVEC_Human0.97828328
77BCOR_27268052_Chip-Seq_Bcells_Human0.96717231
78* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.96256689
79PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.94257241
80E2F4_17652178_ChIP-ChIP_JURKAT_Human0.94139401
81ERG_20887958_ChIP-Seq_HPC-7_Mouse0.93793207
82FOXM1_23109430_ChIP-Seq_U2OS_Human0.93313923
83LXR_22292898_ChIP-Seq_THP-1_Human0.93279261
84VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.92073931
85TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.91899763
86CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.90608628
87* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.89930433
88PU.1_20513432_ChIP-Seq_Bcells_Mouse0.89734398
89ELF1_20517297_ChIP-Seq_JURKAT_Human0.88823404
90LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.88787126
91HOXB4_20404135_ChIP-ChIP_EML_Mouse0.88675576
92GATA1_19941826_ChIP-Seq_K562_Human0.87085371
93CTCF_27219007_Chip-Seq_ERYTHROID_Human0.86706725
94ELK1_19687146_ChIP-ChIP_HELA_Human0.84315208
95BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.83388868
96GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.82811954
97* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82200298
98IKZF1_21737484_ChIP-ChIP_HCT116_Human0.80875616
99* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79440747
100Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.77952624
101SA1_27219007_Chip-Seq_ERYTHROID_Human0.76818471
102SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.76807024
103RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.76757382
104GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.76238542
105GATA3_26560356_Chip-Seq_TH1_Human0.75829821
106TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.75611084
107GATA1_22383799_ChIP-Seq_G1ME_Mouse0.73744105
108P300_27268052_Chip-Seq_Bcells_Human0.73494290
109* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.73181383
110SPI1_20517297_ChIP-Seq_HL60_Human0.72321353
111GABP_17652178_ChIP-ChIP_JURKAT_Human0.72120659
112GATA1_19941827_ChIP-Seq_MEL_Mouse0.71654822
113PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.69624905
114SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.69248446
115EST1_17652178_ChIP-ChIP_JURKAT_Human0.66879557
116XRN2_22483619_ChIP-Seq_HELA_Human0.66647756
117TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.66031276
118NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.64647640
119DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.63233812
120NCOR1_26117541_ChIP-Seq_K562_Human0.62314111
121* FLI1_21867929_ChIP-Seq_CD8_Mouse0.59651868
122FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.59598857

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003763_abnormal_thymus_physiology6.48440407
2MP0005671_abnormal_response_to5.30064041
3MP0002166_altered_tumor_susceptibility3.56736219
4MP0000685_abnormal_immune_system3.41144411
5MP0001835_abnormal_antigen_presentation3.15812550
6MP0001800_abnormal_humoral_immune3.13124290
7MP0009333_abnormal_splenocyte_physiolog3.12897497
8* MP0000703_abnormal_thymus_morphology2.97687399
9MP0002006_tumorigenesis2.96074779
10MP0006082_CNS_inflammation2.94673370
11MP0005000_abnormal_immune_tolerance2.93263986
12* MP0002398_abnormal_bone_marrow2.92653668
13* MP0002420_abnormal_adaptive_immunity2.88863540
14* MP0001819_abnormal_immune_cell2.84962645
15MP0005387_immune_system_phenotype2.83330043
16MP0001790_abnormal_immune_system2.83330043
17MP0002723_abnormal_immune_serum2.80422350
18MP0009785_altered_susceptibility_to2.77326620
19MP0002405_respiratory_system_inflammati2.59550570
20* MP0000716_abnormal_immune_system2.52708835
21MP0002452_abnormal_antigen_presenting2.48128933
22MP0005025_abnormal_response_to2.45581473
23MP0003724_increased_susceptibility_to2.45310475
24* MP0002722_abnormal_immune_system2.43686953
25MP0004947_skin_inflammation2.43255168
26MP0002933_joint_inflammation2.34205447
27MP0001873_stomach_inflammation2.33192553
28MP0000689_abnormal_spleen_morphology2.28541355
29MP0010155_abnormal_intestine_physiology2.19260981
30MP0003300_gastrointestinal_ulcer2.16887770
31MP0003866_abnormal_defecation2.12605707
32MP0003436_decreased_susceptibility_to2.08327336
33* MP0002429_abnormal_blood_cell2.02079973
34MP0004381_abnormal_hair_follicle1.99457116
35MP0002396_abnormal_hematopoietic_system1.99261170
36MP0002148_abnormal_hypersensitivity_rea1.82635502
37MP0001845_abnormal_inflammatory_respons1.66414986
38MP0002419_abnormal_innate_immunity1.64928877
39MP0000858_altered_metastatic_potential1.64079432
40MP0004510_myositis1.51041274
41MP0005464_abnormal_platelet_physiology1.48235537
42MP0005310_abnormal_salivary_gland1.47969760
43MP0002009_preneoplasia1.40405644
44MP0002277_abnormal_respiratory_mucosa1.39526411
45MP0001853_heart_inflammation1.37348284
46MP0004808_abnormal_hematopoietic_stem1.33853319
47MP0003448_altered_tumor_morphology1.28408093
48MP0005075_abnormal_melanosome_morpholog1.26135898
49MP0002132_abnormal_respiratory_system1.25671540
50MP0003303_peritoneal_inflammation1.24522934
51MP0001851_eye_inflammation1.16135341
52MP0002019_abnormal_tumor_incidence1.09386846
53MP0000490_abnormal_crypts_of1.08144755
54MP0000465_gastrointestinal_hemorrhage1.07383709
55MP0003191_abnormal_cellular_cholesterol1.06652090
56MP0008469_abnormal_protein_level1.03858965
57MP0001533_abnormal_skeleton_physiology1.00143226
58MP0008260_abnormal_autophagy0.94834020
59MP0002998_abnormal_bone_remodeling0.90432902
60MP0003045_fibrosis0.89589591
61MP0005023_abnormal_wound_healing0.88234388
62MP0010352_gastrointestinal_tract_polyps0.86758616
63MP0008961_abnormal_basal_metabolism0.84891770
64MP0003172_abnormal_lysosome_physiology0.82661512
65MP0003828_pulmonary_edema0.81266437
66MP0005451_abnormal_body_composition0.81228640
67MP0005397_hematopoietic_system_phenotyp0.80604650
68MP0001545_abnormal_hematopoietic_system0.80604650
69MP0003183_abnormal_peptide_metabolism0.80487966
70MP0004883_abnormal_blood_vessel0.75603160
71MP0001243_abnormal_dermal_layer0.73604376
72MP0008057_abnormal_DNA_replication0.73568754
73MP0004130_abnormal_muscle_cell0.73258542
74MP0001986_abnormal_taste_sensitivity0.69003986
75MP0005076_abnormal_cell_differentiation0.66934514
76MP0003077_abnormal_cell_cycle0.66756686
77MP0005390_skeleton_phenotype0.64684113
78MP0009765_abnormal_xenobiotic_induced0.63694598
79MP0000477_abnormal_intestine_morphology0.63513178
80MP0001348_abnormal_lacrimal_gland0.59667320
81MP0002822_catalepsy0.58575446
82MP0010094_abnormal_chromosome_stability0.58389923
83MP0001191_abnormal_skin_condition0.57756050
84MP0005174_abnormal_tail_pigmentation0.56452468
85MP0004957_abnormal_blastocyst_morpholog0.55979674
86* MP0009763_increased_sensitivity_to0.55132783
87MP0003795_abnormal_bone_structure0.54751474
88MP0000609_abnormal_liver_physiology0.53757333
89MP0003690_abnormal_glial_cell0.52795956
90MP0002163_abnormal_gland_morphology0.52665534
91MP0008007_abnormal_cellular_replicative0.52480184
92MP0001216_abnormal_epidermal_layer0.51620418
93MP0002136_abnormal_kidney_physiology0.50509602
94MP0002095_abnormal_skin_pigmentation0.49356099
95MP0010234_abnormal_vibrissa_follicle0.48651722
96MP0002138_abnormal_hepatobiliary_system0.46747322
97MP0005381_digestive/alimentary_phenotyp0.46628869
98MP0001765_abnormal_ion_homeostasis0.45788559
99MP0003075_altered_response_to0.45166113
100MP0004185_abnormal_adipocyte_glucose0.44343792
101MP0003453_abnormal_keratinocyte_physiol0.43968750
102MP0003693_abnormal_embryo_hatching0.43681861
103MP0002693_abnormal_pancreas_physiology0.43148958
104MP0000367_abnormal_coat/_hair0.42925595
105MP0000249_abnormal_blood_vessel0.42249826
106MP0005164_abnormal_response_to0.42088163
107MP0009764_decreased_sensitivity_to0.41917117
108MP0000015_abnormal_ear_pigmentation0.41246828
109MP0009278_abnormal_bone_marrow0.40988380
110MP0001663_abnormal_digestive_system0.40724949
111MP0008569_lethality_at_weaning0.39677195
112MP0003252_abnormal_bile_duct0.39475419
113MP0005377_hearing/vestibular/ear_phenot0.39134994
114MP0003878_abnormal_ear_physiology0.39134994
115MP0001919_abnormal_reproductive_system0.39016656
116MP0002083_premature_death0.38601398
117MP0008874_decreased_physiological_sensi0.37950399
118MP0000313_abnormal_cell_death0.37668890
119MP0008873_increased_physiological_sensi0.36433598
120MP0005409_darkened_coat_color0.34571852
121MP0005166_decreased_susceptibility_to0.34336520
122MP0000604_amyloidosis0.32206648
123MP0008770_decreased_survivor_rate0.30863246

Predicted human phenotypes

RankGene SetZ-score
1T lymphocytopenia (HP:0005403)9.11335634
2Abnormality of T cell number (HP:0011839)8.76382348
3Severe combined immunodeficiency (HP:0004430)7.36047275
4Combined immunodeficiency (HP:0005387)6.88828451
5Abnormality of T cells (HP:0002843)6.01597512
6Elevated erythrocyte sedimentation rate (HP:0003565)5.73482662
7IgG deficiency (HP:0004315)5.11515407
8Panhypogammaglobulinemia (HP:0003139)5.10864996
9Recurrent bronchitis (HP:0002837)5.08944907
10Stomatitis (HP:0010280)5.04495956
11Autoimmune hemolytic anemia (HP:0001890)4.82767431
12Recurrent fungal infections (HP:0002841)4.79306601
13Abnormality of B cell number (HP:0010975)4.76967588
14B lymphocytopenia (HP:0010976)4.76967588
15Thyroiditis (HP:0100646)4.73600289
16Abnormality of eosinophils (HP:0001879)4.70628748
17Recurrent viral infections (HP:0004429)4.67320250
18Recurrent bacterial skin infections (HP:0005406)4.55236734
19Abnormality of macrophages (HP:0004311)4.49022756
20Eosinophilia (HP:0001880)4.45264306
21Hypoplasia of the thymus (HP:0000778)4.35598719
22IgM deficiency (HP:0002850)4.27831333
23Nasal polyposis (HP:0100582)4.21039213
24Recurrent cutaneous fungal infections (HP:0011370)4.17223975
25Chronic mucocutaneous candidiasis (HP:0002728)4.17223975
26Increased IgM level (HP:0003496)4.14065656
27Myositis (HP:0100614)4.01862807
28Chronic otitis media (HP:0000389)3.96754366
29Leukocytosis (HP:0001974)3.94346760
30Chronic diarrhea (HP:0002028)3.87996128
31Eczematoid dermatitis (HP:0000976)3.84766072
32Granulocytopenia (HP:0001913)3.82472606
33Joint swelling (HP:0001386)3.75632974
34Abnormality of the fingertips (HP:0001211)3.73037011
35Pustule (HP:0200039)3.54135548
36Abnormality of the nasal mucosa (HP:0000433)3.49760534
37Abnormality of T cell physiology (HP:0011840)3.39217486
38Recurrent gram-negative bacterial infections (HP:0005420)3.35029837
39Abnormal delayed hypersensitivity skin test (HP:0002963)3.17798519
40Retrobulbar optic neuritis (HP:0100654)3.08705521
41Optic neuritis (HP:0100653)3.08705521
42Hypochromic anemia (HP:0001931)3.00612202
43Autoimmune thrombocytopenia (HP:0001973)2.99964755
44Hemoptysis (HP:0002105)2.95658367
45Hypochromic microcytic anemia (HP:0004840)2.91827975
46Meningitis (HP:0001287)2.90803775
47Prolonged bleeding time (HP:0003010)2.90004275
48Bronchitis (HP:0012387)2.88605659
49Gastrointestinal infarctions (HP:0005244)2.88112765
50Orchitis (HP:0100796)2.81540274
51* Lymphopenia (HP:0001888)2.77409784
52Recurrent sinusitis (HP:0011108)2.74314245
53Lymphoma (HP:0002665)2.73483989
54Hypergammaglobulinemia (HP:0010702)2.71487540
55* Abnormality of cells of the lymphoid lineage (HP:0012140)2.70791350
56Pulmonary infiltrates (HP:0002113)2.70265977
57Vasculitis (HP:0002633)2.70089568
58Urticaria (HP:0001025)2.65654347
59Gingivitis (HP:0000230)2.65308033
60Encephalitis (HP:0002383)2.62276298
61IgA deficiency (HP:0002720)2.61563844
62Papilledema (HP:0001085)2.57895625
63Basal cell carcinoma (HP:0002671)2.53688425
64Chronic obstructive pulmonary disease (HP:0006510)2.44615116
65Obstructive lung disease (HP:0006536)2.44615116
66Mediastinal lymphadenopathy (HP:0100721)2.39952547
67Microcytic anemia (HP:0001935)2.39922117
68Keratoconjunctivitis sicca (HP:0001097)2.39230492
69Ureteral stenosis (HP:0000071)2.38850883
70Acute hepatic failure (HP:0006554)2.37379077
71Recurrent skin infections (HP:0001581)2.35792015
72Recurrent abscess formation (HP:0002722)2.35204036
73Colitis (HP:0002583)2.28853576
74Abnormality of the prostate (HP:0008775)2.28496952
75Agammaglobulinemia (HP:0004432)2.26848814
76Gingival bleeding (HP:0000225)2.26229986
77Episodic fever (HP:0001954)2.25522423
78Sepsis (HP:0100806)2.23774308
79Hypoproteinemia (HP:0003075)2.22795600
80Cellulitis (HP:0100658)2.22138762
81Slow saccadic eye movements (HP:0000514)2.20857899
82Arterial thrombosis (HP:0004420)2.15810483
83Ureteral obstruction (HP:0006000)2.15684691
84Aplasia/Hypoplasia of the thymus (HP:0010515)2.15419867
85Keratoconjunctivitis (HP:0001096)2.15060110
86Spontaneous hematomas (HP:0007420)2.15026784
87Glomerulopathy (HP:0100820)2.13653777
88Pulmonary embolism (HP:0002204)2.11261786
89Petechiae (HP:0000967)2.11168978
90Increased IgE level (HP:0003212)2.10553347
91Gangrene (HP:0100758)2.05708653
92Cheilitis (HP:0100825)2.03666427
93Inflammation of the large intestine (HP:0002037)2.03004570
94Verrucae (HP:0200043)2.02728732
95Papilloma (HP:0012740)2.02728732
96Chronic sinusitis (HP:0011109)2.02048276
97Chest pain (HP:0100749)2.00073186
98Gastrointestinal inflammation (HP:0004386)1.99860494
99Aplastic anemia (HP:0001915)1.99155172
100Bronchiectasis (HP:0002110)1.99104938
101Thrombocytosis (HP:0001894)1.94487234
102Epistaxis (HP:0000421)1.94200863
103Trigonocephaly (HP:0000243)1.86638288
104Amaurosis fugax (HP:0100576)1.85725746
105Hemiplegia (HP:0002301)1.84657369
106Skin rash (HP:0000988)1.84242950
107Keratitis (HP:0000491)1.82924772
108Purpura (HP:0000979)1.82686979
109Amyotrophic lateral sclerosis (HP:0007354)1.82091605
110Osteomyelitis (HP:0002754)1.81966136
111* Recurrent otitis media (HP:0000403)1.80119259
112Abnormality of oral frenula (HP:0000190)1.78564877
113Dislocated radial head (HP:0003083)1.77437150
114Anorexia (HP:0002039)1.75822935
115Cellular immunodeficiency (HP:0005374)1.73744122
116Periodontitis (HP:0000704)1.73721077
117Polyneuropathy (HP:0001271)1.72315704
118Abnormal platelet volume (HP:0011876)1.72063198
119Abnormality of the pleura (HP:0002103)1.70945718
120Hepatitis (HP:0012115)1.70653864
121Reduced subcutaneous adipose tissue (HP:0003758)1.69730344
122Poikiloderma (HP:0001029)1.68391431
123Bicuspid aortic valve (HP:0001647)1.68179245
124Skin ulcer (HP:0200042)1.66087497
125Arthralgia (HP:0002829)1.65430894

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TXK7.88273303
2MAP4K15.82907108
3ZAP703.58836089
4ITK3.41274555
5FGFR43.31453920
6RIPK43.19357195
7JAK32.90073428
8STK102.80248606
9IKBKE2.68264123
10TYK22.51373014
11NLK2.18204834
12KDR2.09119882
13TESK22.03631270
14JAK12.03578313
15FGFR31.99104968
16* LCK1.97192262
17TAOK31.96978379
18GRK61.94472384
19MST41.67565387
20CSK1.60600649
21ERN11.56593898
22SYK1.56207061
23TEC1.49803234
24TBK11.48858092
25MAP3K141.48852577
26MAP2K31.41188035
27CAMKK21.35190535
28HCK1.33925867
29PRKCH1.30079088
30PRKCQ1.27907351
31MAP3K111.20346647
32BLK1.19575112
33CAMKK11.19450657
34BTK1.15422304
35LRRK21.08433166
36MAP3K131.07530231
37MARK31.05565005
38MAP3K31.04500548
39NME21.03999958
40MAP3K121.00958064
41KIT0.99003162
42SMG10.96284421
43EEF2K0.95302337
44CLK10.95010579
45MAP3K100.90278026
46SIK30.83109967
47PDGFRB0.79169651
48RPS6KA40.78718500
49LYN0.78502135
50FGR0.75944511
51MAP3K70.75914153
52SIK20.75667384
53IKBKB0.74793313
54FGFR10.73236002
55PIM10.72922498
56MAP3K10.72791883
57JAK20.72553523
58TYRO30.72335292
59IRAK40.68324049
60PTK60.65706981
61FES0.63332726
62TAOK10.61422409
63CHUK0.60099149
64TAOK20.58045886
65PKN20.57318558
66MARK20.57045968
67CDK120.56508896
68INSR0.56438345
69TNK20.56160962
70TESK10.52749861
71EPHA30.51522373
72MAPK70.50831663
73CDK40.49834554
74YES10.48804653
75TGFBR20.47182769
76KSR20.46983583
77GRK70.46805436
78MAPK110.45531001
79IGF1R0.45338198
80* FYN0.45293664
81EPHB10.43866153
82FGFR20.43723086
83PIK3CG0.42819182
84MAP2K20.41150126
85BMPR20.40983119
86PRKD20.40656009
87CSF1R0.40634131
88PDK10.39199965
89CDC42BPA0.38767061
90MAP2K60.38188772
91STK380.37910945
92MELK0.37891751
93BRD40.37680720
94STK40.37114638
95HIPK20.37058399
96CDK190.35962579
97TLK10.35102653
98TRIB30.34818835
99STK110.34029218
100MAPKAPK20.32870422
101PDPK10.32564779
102RET0.30772954
103DYRK1B0.30696257
104CDK60.28932383
105PASK0.27002124
106RPS6KC10.25931797
107RPS6KL10.25931797
108MAPK120.25292829
109ALK0.25245086
110PRPF4B0.24724054
111NEK60.24720531
112CDK90.23563560
113MAPK30.23512069
114RPS6KA60.22952566
115RPS6KA50.22043987
116MAP3K80.22043024
117MAPK40.21396540
118ILK0.20271091
119CDC70.18749858
120TTN0.18541004
121SRC0.16557331
122SIK10.15954013
123TSSK60.15648455
124IRAK10.15610061
125CSNK1A1L0.15471900
126EGFR0.14552791
127MAPK90.13335062
128NTRK20.13187061
129DMPK0.12524551
130ROCK20.11619198
131CSNK1G10.11009166

Predicted pathways (KEGG)

RankGene SetZ-score
1* Primary immunodeficiency_Homo sapiens_hsa053406.35436271
2* T cell receptor signaling pathway_Homo sapiens_hsa046604.44274363
3Graft-versus-host disease_Homo sapiens_hsa053323.69201778
4Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046503.64009387
5Antigen processing and presentation_Homo sapiens_hsa046123.10419882
6Inflammatory bowel disease (IBD)_Homo sapiens_hsa053213.10255805
7Intestinal immune network for IgA production_Homo sapiens_hsa046722.98822593
8* Measles_Homo sapiens_hsa051622.83486312
9Allograft rejection_Homo sapiens_hsa053302.70822319
10NF-kappa B signaling pathway_Homo sapiens_hsa040642.39372580
11Autoimmune thyroid disease_Homo sapiens_hsa053202.26727631
12* Hematopoietic cell lineage_Homo sapiens_hsa046402.22718262
13Viral myocarditis_Homo sapiens_hsa054162.12204433
14Leishmaniasis_Homo sapiens_hsa051401.72551507
15Osteoclast differentiation_Homo sapiens_hsa043801.68701135
16Jak-STAT signaling pathway_Homo sapiens_hsa046301.67393478
17Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.59428718
18RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.50110022
19Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.49225671
20Herpes simplex infection_Homo sapiens_hsa051681.47602895
21Leukocyte transendothelial migration_Homo sapiens_hsa046701.40786397
22B cell receptor signaling pathway_Homo sapiens_hsa046621.36333705
23Chemokine signaling pathway_Homo sapiens_hsa040621.30162860
24Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.24571087
25Hepatitis B_Homo sapiens_hsa051611.21248249
26Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.20129102
27Shigellosis_Homo sapiens_hsa051311.15805016
28Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.14845091
29Non-homologous end-joining_Homo sapiens_hsa034501.14190984
30* Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.14179913
31Toxoplasmosis_Homo sapiens_hsa051451.13802978
32Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.12441544
33* HTLV-I infection_Homo sapiens_hsa051661.10410540
34Asthma_Homo sapiens_hsa053101.10138642
35Ribosome_Homo sapiens_hsa030101.07136603
36Acute myeloid leukemia_Homo sapiens_hsa052211.06304800
37Colorectal cancer_Homo sapiens_hsa052101.00032452
38Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.97344716
39Influenza A_Homo sapiens_hsa051640.95418606
40NOD-like receptor signaling pathway_Homo sapiens_hsa046210.94751534
41Type I diabetes mellitus_Homo sapiens_hsa049400.92344497
42Pancreatic cancer_Homo sapiens_hsa052120.90962301
43African trypanosomiasis_Homo sapiens_hsa051430.90574395
44Spliceosome_Homo sapiens_hsa030400.88215108
45Apoptosis_Homo sapiens_hsa042100.86860058
46Epstein-Barr virus infection_Homo sapiens_hsa051690.82189554
47Viral carcinogenesis_Homo sapiens_hsa052030.78794178
48Staphylococcus aureus infection_Homo sapiens_hsa051500.77272360
49TNF signaling pathway_Homo sapiens_hsa046680.76142384
50Toll-like receptor signaling pathway_Homo sapiens_hsa046200.75994232
51VEGF signaling pathway_Homo sapiens_hsa043700.75050206
52Platelet activation_Homo sapiens_hsa046110.72133424
53Malaria_Homo sapiens_hsa051440.71134889
54Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.69374298
55Hepatitis C_Homo sapiens_hsa051600.68804914
56p53 signaling pathway_Homo sapiens_hsa041150.68301244
57Chronic myeloid leukemia_Homo sapiens_hsa052200.66197328
58Legionellosis_Homo sapiens_hsa051340.61806839
59Prolactin signaling pathway_Homo sapiens_hsa049170.60310875
60Thyroid cancer_Homo sapiens_hsa052160.58573626
61Phagosome_Homo sapiens_hsa041450.58230641
62Notch signaling pathway_Homo sapiens_hsa043300.56738460
63Tuberculosis_Homo sapiens_hsa051520.56702590
64SNARE interactions in vesicular transport_Homo sapiens_hsa041300.53125130
65DNA replication_Homo sapiens_hsa030300.52628742
66AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.52490540
67Regulation of actin cytoskeleton_Homo sapiens_hsa048100.51472992
68Salmonella infection_Homo sapiens_hsa051320.50022125
69RNA degradation_Homo sapiens_hsa030180.49501358
70Adherens junction_Homo sapiens_hsa045200.49287333
71Endocytosis_Homo sapiens_hsa041440.48829312
72Phospholipase D signaling pathway_Homo sapiens_hsa040720.48491941
73Proteasome_Homo sapiens_hsa030500.47570446
74Mismatch repair_Homo sapiens_hsa034300.46301050
75Carbohydrate digestion and absorption_Homo sapiens_hsa049730.46300410
76Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.46170515
77Phosphatidylinositol signaling system_Homo sapiens_hsa040700.45406589
78Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.45197894
79Regulation of autophagy_Homo sapiens_hsa041400.43607545
80Adipocytokine signaling pathway_Homo sapiens_hsa049200.43526163
81Other glycan degradation_Homo sapiens_hsa005110.42758785
82Transcriptional misregulation in cancer_Homo sapiens_hsa052020.41613796
83Pertussis_Homo sapiens_hsa051330.40532937
84Non-small cell lung cancer_Homo sapiens_hsa052230.39050654
85Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.38838329
86Rap1 signaling pathway_Homo sapiens_hsa040150.38227126
87Rheumatoid arthritis_Homo sapiens_hsa053230.38023602
88mRNA surveillance pathway_Homo sapiens_hsa030150.37474059
89FoxO signaling pathway_Homo sapiens_hsa040680.37288614
90Ras signaling pathway_Homo sapiens_hsa040140.36595728
91Dorso-ventral axis formation_Homo sapiens_hsa043200.35761011
92Neurotrophin signaling pathway_Homo sapiens_hsa047220.35551329
93Long-term potentiation_Homo sapiens_hsa047200.35313937
94Endometrial cancer_Homo sapiens_hsa052130.34408009
95Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.34368517
96Small cell lung cancer_Homo sapiens_hsa052220.32867138
97Nucleotide excision repair_Homo sapiens_hsa034200.31426144
98Glycerophospholipid metabolism_Homo sapiens_hsa005640.29828482
99ErbB signaling pathway_Homo sapiens_hsa040120.29580355
100Base excision repair_Homo sapiens_hsa034100.29280733
101Glioma_Homo sapiens_hsa052140.28694133
102Prostate cancer_Homo sapiens_hsa052150.28365407
103Sphingolipid signaling pathway_Homo sapiens_hsa040710.28022164
104Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.26535445
105GnRH signaling pathway_Homo sapiens_hsa049120.26413401
106HIF-1 signaling pathway_Homo sapiens_hsa040660.25441868
107Thyroid hormone signaling pathway_Homo sapiens_hsa049190.25332078
108MAPK signaling pathway_Homo sapiens_hsa040100.22695019
109RNA transport_Homo sapiens_hsa030130.22167514
110Inositol phosphate metabolism_Homo sapiens_hsa005620.22096666
111Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.21632473
112Pathways in cancer_Homo sapiens_hsa052000.19648170
113Insulin resistance_Homo sapiens_hsa049310.16615539
114Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.16608897
115Cell cycle_Homo sapiens_hsa041100.16384678
116Renal cell carcinoma_Homo sapiens_hsa052110.15981311
117mTOR signaling pathway_Homo sapiens_hsa041500.15250180
118Choline metabolism in cancer_Homo sapiens_hsa052310.14801089
119Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.14184246
120Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.13466151
121MicroRNAs in cancer_Homo sapiens_hsa052060.12470595
122Pentose phosphate pathway_Homo sapiens_hsa000300.09802870

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