CD247

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 T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative T cell selection (GO:0043383)8.79677793
2negative thymic T cell selection (GO:0045060)8.12229695
3positive regulation of gamma-delta T cell activation (GO:0046645)8.08664201
4positive T cell selection (GO:0043368)7.56311353
5positive thymic T cell selection (GO:0045059)7.30550831
6regulation of gamma-delta T cell differentiation (GO:0045586)7.18124732
7thymic T cell selection (GO:0045061)6.96964256
8T cell selection (GO:0045058)6.95082553
9positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)6.75831786
10regulation of isotype switching to IgG isotypes (GO:0048302)6.64921161
11negative regulation of leukocyte mediated cytotoxicity (GO:0001911)6.61065633
12negative regulation of cell killing (GO:0031342)6.61065633
13interferon-gamma production (GO:0032609)6.56130196
14positive regulation of interleukin-2 biosynthetic process (GO:0045086)6.55981158
15regulation of gamma-delta T cell activation (GO:0046643)6.47583438
16antigen processing and presentation of endogenous peptide antigen (GO:0002483)6.42478631
17antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)6.42478631
18response to interleukin-15 (GO:0070672)5.80655619
19* T cell receptor signaling pathway (GO:0050852)5.74256587
20cellular response to interleukin-15 (GO:0071350)5.54120341
21regulation of T cell tolerance induction (GO:0002664)5.47178210
22T cell migration (GO:0072678)5.38736659
23antigen processing and presentation of endogenous antigen (GO:0019883)5.34017726
24leukocyte aggregation (GO:0070486)5.28218411
25activated T cell proliferation (GO:0050798)5.27247471
26* T cell costimulation (GO:0031295)5.14767186
27* lymphocyte costimulation (GO:0031294)5.07327508
28regulation of interleukin-2 biosynthetic process (GO:0045076)4.83668554
29* antigen receptor-mediated signaling pathway (GO:0050851)4.65848299
30regulation of T cell receptor signaling pathway (GO:0050856)4.60218823
31positive regulation of interleukin-2 production (GO:0032743)4.48419791
32positive regulation of tolerance induction (GO:0002645)4.46808711
33regulation of alpha-beta T cell proliferation (GO:0046640)4.43895363
34regulation of antigen receptor-mediated signaling pathway (GO:0050854)4.34756137
35V(D)J recombination (GO:0033151)4.32972900
36regulation of regulatory T cell differentiation (GO:0045589)4.31418006
37positive regulation of alpha-beta T cell proliferation (GO:0046641)4.28654289
38positive regulation of isotype switching (GO:0045830)4.24404972
39T cell differentiation (GO:0030217)4.18649962
40regulation of B cell receptor signaling pathway (GO:0050855)4.18335947
41alpha-beta T cell differentiation (GO:0046632)4.14532888
42regulation of natural killer cell mediated immunity (GO:0002715)4.12090511
43regulation of natural killer cell mediated cytotoxicity (GO:0042269)4.12090511
44positive regulation of natural killer cell mediated immunity (GO:0002717)4.10334873
45positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)4.10334873
46regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)4.09550235
47alpha-beta T cell activation (GO:0046631)4.07869402
48mast cell activation (GO:0045576)4.04234758
49negative regulation of leukocyte mediated immunity (GO:0002704)3.99416607
50regulation of isotype switching (GO:0045191)3.97799982
51regulation of T cell mediated cytotoxicity (GO:0001914)3.91955799
52regulation of tolerance induction (GO:0002643)3.90145631
53positive regulation of T cell mediated cytotoxicity (GO:0001916)3.84114966
54tolerance induction (GO:0002507)3.78780478
55regulation of interleukin-12 biosynthetic process (GO:0045075)3.75567507
56detection of bacterium (GO:0016045)3.72977584
57detection of other organism (GO:0098543)3.69046675
58negative regulation of T cell mediated immunity (GO:0002710)3.68586462
59positive regulation of DNA recombination (GO:0045911)3.67431986
60T cell activation (GO:0042110)3.66971611
61neutrophil activation involved in immune response (GO:0002283)3.66391649
62regulation of response to interferon-gamma (GO:0060330)3.64409137
63modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.61299092
64positive regulation by organism of defense response of other organism involved in symbiotic interact3.61299092
65modulation by symbiont of host immune response (GO:0052553)3.61299092
66positive regulation by symbiont of host defense response (GO:0052509)3.61299092
67modulation by symbiont of host defense response (GO:0052031)3.61299092
68modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.61299092
69regulation of interferon-gamma-mediated signaling pathway (GO:0060334)3.60115255
70positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.59645613
71positive regulation of B cell mediated immunity (GO:0002714)3.58443157
72positive regulation of immunoglobulin mediated immune response (GO:0002891)3.58443157
73B cell receptor signaling pathway (GO:0050853)3.56646462
74sequestering of actin monomers (GO:0042989)3.55423577
75positive regulation of humoral immune response (GO:0002922)3.53583212
76type I interferon signaling pathway (GO:0060337)3.52436788
77cellular response to type I interferon (GO:0071357)3.52436788
78cellular extravasation (GO:0045123)3.51940887
79response to type I interferon (GO:0034340)3.49984351
80regulation of immunoglobulin mediated immune response (GO:0002889)3.48103503
81positive regulation of B cell differentiation (GO:0045579)3.45059343
82antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.41656124
83negative regulation of T cell receptor signaling pathway (GO:0050860)3.41156965
84T cell homeostasis (GO:0043029)3.40190187
85positive regulation of leukocyte mediated cytotoxicity (GO:0001912)3.39894150
86regulation of leukocyte mediated cytotoxicity (GO:0001910)3.37571930
87regulation of interleukin-2 production (GO:0032663)3.37150350
88regulation of B cell mediated immunity (GO:0002712)3.35373929
89natural killer cell activation (GO:0030101)3.31775590
90regulation of type I interferon-mediated signaling pathway (GO:0060338)3.31147072
91mast cell degranulation (GO:0043303)3.29739407
92mast cell activation involved in immune response (GO:0002279)3.29739407
93neutrophil activation (GO:0042119)3.26734152
94leukocyte cell-cell adhesion (GO:0007159)3.25979650
95negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)3.25879291
96regulation of immunoglobulin production (GO:0002637)3.24699868
97negative regulation of interleukin-12 production (GO:0032695)3.21962104
98positive regulation of immunoglobulin production (GO:0002639)3.19194607
99negative regulation of innate immune response (GO:0045824)3.19089460
100* immune response-activating cell surface receptor signaling pathway (GO:0002429)3.18866495
101positive regulation of calcium-mediated signaling (GO:0050850)3.18137166
102positive regulation of cell killing (GO:0031343)3.16492568
103regulation of cell killing (GO:0031341)3.16363843
104macrophage activation involved in immune response (GO:0002281)3.15608112
105T cell proliferation (GO:0042098)3.15593287
106negative regulation of thymocyte apoptotic process (GO:0070244)3.13129092
107leukocyte degranulation (GO:0043299)3.12524774
108negative regulation of lymphocyte mediated immunity (GO:0002707)3.12230163
109negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.10464730
110CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)3.10201230
111T-helper cell differentiation (GO:0042093)3.10201230
112cellular response to interleukin-4 (GO:0071353)3.10011469
113heterotypic cell-cell adhesion (GO:0034113)3.08562182
114respiratory burst (GO:0045730)3.08342107
115positive regulation of granulocyte differentiation (GO:0030854)3.07519751
116regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.06379436
117T cell differentiation involved in immune response (GO:0002292)3.05597137
118alpha-beta T cell differentiation involved in immune response (GO:0002293)3.05597137
119alpha-beta T cell activation involved in immune response (GO:0002287)3.05597137
120* positive regulation of T cell activation (GO:0050870)3.05304758
121negative regulation of phagocytosis (GO:0050765)3.04317240
122dendritic cell chemotaxis (GO:0002407)3.03700391
123lymphocyte migration (GO:0072676)3.02892246
124regulation of alpha-beta T cell activation (GO:0046634)3.01835553
125negative regulation of adaptive immune response based on somatic recombination of immune receptors b3.00493768
126myeloid cell activation involved in immune response (GO:0002275)3.00159092
127regulation of T cell mediated immunity (GO:0002709)2.99354992
128NIK/NF-kappaB signaling (GO:0038061)2.98968984
129antigen processing and presentation via MHC class Ib (GO:0002475)2.97210879
130response to muramyl dipeptide (GO:0032495)2.96973005
131granulocyte activation (GO:0036230)2.96493291
132positive regulation of T cell mediated immunity (GO:0002711)2.95834475
133positive regulation of T cell differentiation in thymus (GO:0033089)2.95809038
134cellular defense response (GO:0006968)2.93486745
135regulation of B cell differentiation (GO:0045577)2.92115512
136immunoglobulin mediated immune response (GO:0016064)2.92007856
137Peyers patch development (GO:0048541)2.91308984
138mucosal-associated lymphoid tissue development (GO:0048537)2.91308984
139lymphocyte homeostasis (GO:0002260)2.88798141
140dendritic cell migration (GO:0036336)2.88622938
141regulation of granulocyte differentiation (GO:0030852)2.87237063
142natural killer cell differentiation (GO:0001779)2.86693591
143Arp2/3 complex-mediated actin nucleation (GO:0034314)2.86159008

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse8.05221886
2* STAT6_20620947_ChIP-Seq_CD4_POS_T_Human5.98947196
3E2F7_22180533_ChIP-Seq_HELA_Human4.44688423
4RUNX_20019798_ChIP-Seq_JUKART_Human3.72745343
5IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.69128918
6STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.66867530
7MYC_22102868_ChIP-Seq_BL_Human3.64893677
8IRF8_22096565_ChIP-ChIP_GC-B_Human3.64312554
9* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse3.61924853
10IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.43226235
11STAT4_19710469_ChIP-ChIP_TH1__Mouse3.38662062
12MYB_26560356_Chip-Seq_TH2_Human3.37697998
13* MAF_26560356_Chip-Seq_TH1_Human2.95341306
14UTX_26944678_Chip-Seq_JUKART_Human2.88105317
15MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.86153814
16EGR1_19374776_ChIP-ChIP_THP-1_Human2.84357067
17MYB_26560356_Chip-Seq_TH1_Human2.76602218
18SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.59902016
19NOTCH1_21737748_ChIP-Seq_TLL_Human2.23818102
20VDR_21846776_ChIP-Seq_THP-1_Human2.21792777
21RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.20634917
22SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.20179183
23NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.17250932
24* MAF_26560356_Chip-Seq_TH2_Human2.13931970
25* GATA3_27048872_Chip-Seq_THYMUS_Human2.13042540
26IRF8_21731497_ChIP-ChIP_J774_Mouse2.10915227
27KDM2B_26808549_Chip-Seq_HPB-ALL_Human2.07796170
28TCF7_22412390_ChIP-Seq_EML_Mouse1.90984275
29ELF1_17652178_ChIP-ChIP_JURKAT_Human1.89303377
30RUNX1_22412390_ChIP-Seq_EML_Mouse1.88717256
31SPI1_23547873_ChIP-Seq_NB4_Human1.78732728
32E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.75585389
33FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.72744266
34ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.71832449
35CIITA_25753668_ChIP-Seq_RAJI_Human1.69113688
36NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.68035195
37SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.66244761
38KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.65459812
39MYB_21317192_ChIP-Seq_ERMYB_Mouse1.62526023
40KDM2B_26808549_Chip-Seq_DND41_Human1.60517737
41SCL_19346495_ChIP-Seq_HPC-7_Human1.59671490
42BP1_19119308_ChIP-ChIP_Hs578T_Human1.58974324
43TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.58905712
44VDR_24763502_ChIP-Seq_THP-1_Human1.55633167
45EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.53221092
46IRF8_27001747_Chip-Seq_BMDM_Mouse1.51244085
47RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.49473570
48MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.49274073
49FOXM1_23109430_ChIP-Seq_U2OS_Human1.47913675
50E2F4_17652178_ChIP-ChIP_JURKAT_Human1.43687180
51BRD4_27068464_Chip-Seq_AML-cells_Mouse1.38279818
52VDR_23849224_ChIP-Seq_CD4+_Human1.37021120
53SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.35956562
54VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.34717493
55FOXP3_21729870_ChIP-Seq_TREG_Human1.33282019
56CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.30655775
57VDR_24787735_ChIP-Seq_THP-1_Human1.24781779
58GATA2_22383799_ChIP-Seq_G1ME_Mouse1.24456959
59GATA1_19941827_ChIP-Seq_MEL_Mouse1.23186703
60* SPI1_23127762_ChIP-Seq_K562_Human1.20788008
61GATA3_26560356_Chip-Seq_TH2_Human1.19984535
62STAT6_21828071_ChIP-Seq_BEAS2B_Human1.18818368
63KDM2B_26808549_Chip-Seq_SUP-B15_Human1.16701122
64GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.16292746
65GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13166498
66SMAD_19615063_ChIP-ChIP_OVARY_Human1.11330723
67RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.10297975
68* PU_27001747_Chip-Seq_BMDM_Mouse1.09955980
69* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.09169017
70PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.08986558
71ERG_20887958_ChIP-Seq_HPC-7_Mouse1.08675134
72VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.08522804
73BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.07277347
74* KDM2B_26808549_Chip-Seq_JURKAT_Human1.04751062
75ELK3_25401928_ChIP-Seq_HUVEC_Human1.00415943
76BCL6_27268052_Chip-Seq_Bcells_Human0.99427870
77ELK1_19687146_ChIP-ChIP_HELA_Human0.99371662
78HOXB4_20404135_ChIP-ChIP_EML_Mouse0.99281100
79Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.98643855
80CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.98319932
81GATA1_22025678_ChIP-Seq_K562_Human0.96909207
82CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.96784769
83TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.96142163
84GATA1_19941826_ChIP-Seq_K562_Human0.93208400
85PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.92727055
86PU.1_20513432_ChIP-Seq_Bcells_Mouse0.92132699
87CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.91996343
88LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.90913139
89LXR_22292898_ChIP-Seq_THP-1_Human0.90570085
90TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.90212063
91THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.90008430
92ELF1_20517297_ChIP-Seq_JURKAT_Human0.87747450
93GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.87224007
94BCOR_27268052_Chip-Seq_Bcells_Human0.86530081
95PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.86038156
96FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.85970636
97XRN2_22483619_ChIP-Seq_HELA_Human0.85882033
98GATA1_22383799_ChIP-Seq_G1ME_Mouse0.85836050
99NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.84810162
100FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84647607
101* CTCF_27219007_Chip-Seq_ERYTHROID_Human0.82179751
102GABP_17652178_ChIP-ChIP_JURKAT_Human0.80949786
103* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.80752605
104RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.80513041
105EST1_17652178_ChIP-ChIP_JURKAT_Human0.79585688
106NCOR1_26117541_ChIP-Seq_K562_Human0.79088327
107SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78929720
108LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.78717469
109FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.78666591
110GATA3_26560356_Chip-Seq_TH1_Human0.78333596
111MYC_19079543_ChIP-ChIP_MESCs_Mouse0.75768440
112SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.75358034
113NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.75209488
114GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.74725404
115SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.74576201
116FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.74046660
117MYC_18555785_ChIP-Seq_MESCs_Mouse0.73973369
118KDM5A_27292631_Chip-Seq_BREAST_Human0.73317863
119RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.69872206
120PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.68953384
121DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.67530618
122SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.66811319

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0003763_abnormal_thymus_physiology6.08735243
2MP0005671_abnormal_response_to4.89493457
3MP0000685_abnormal_immune_system3.66030872
4MP0002166_altered_tumor_susceptibility3.43431584
5MP0001835_abnormal_antigen_presentation3.32253440
6MP0001800_abnormal_humoral_immune3.11144450
7* MP0000703_abnormal_thymus_morphology3.08244161
8* MP0002398_abnormal_bone_marrow2.97751344
9MP0005387_immune_system_phenotype2.87150000
10MP0001790_abnormal_immune_system2.87150000
11MP0002006_tumorigenesis2.85840044
12MP0005000_abnormal_immune_tolerance2.84417247
13* MP0002420_abnormal_adaptive_immunity2.84361121
14* MP0001819_abnormal_immune_cell2.79909839
15* MP0002723_abnormal_immune_serum2.72319798
16MP0009785_altered_susceptibility_to2.68939660
17MP0006082_CNS_inflammation2.59411986
18MP0002405_respiratory_system_inflammati2.59347749
19* MP0000716_abnormal_immune_system2.53606555
20* MP0009333_abnormal_splenocyte_physiolog2.51705398
21MP0002452_abnormal_antigen_presenting2.47905813
22* MP0002722_abnormal_immune_system2.46085311
23MP0005025_abnormal_response_to2.38516696
24MP0002396_abnormal_hematopoietic_system2.32975491
25MP0010155_abnormal_intestine_physiology2.29015170
26MP0001873_stomach_inflammation2.27981545
27* MP0000689_abnormal_spleen_morphology2.27962785
28MP0004947_skin_inflammation2.23788133
29MP0003436_decreased_susceptibility_to2.20761775
30MP0003300_gastrointestinal_ulcer2.18150483
31MP0003724_increased_susceptibility_to2.17841370
32MP0003866_abnormal_defecation2.07381935
33* MP0002429_abnormal_blood_cell2.06180679
34MP0004381_abnormal_hair_follicle1.93987464
35MP0002933_joint_inflammation1.92808162
36MP0002148_abnormal_hypersensitivity_rea1.83951364
37MP0002419_abnormal_innate_immunity1.64125960
38MP0001845_abnormal_inflammatory_respons1.63722477
39MP0004808_abnormal_hematopoietic_stem1.61920381
40MP0000858_altered_metastatic_potential1.57258926
41MP0005464_abnormal_platelet_physiology1.53724542
42MP0001853_heart_inflammation1.51072238
43MP0002132_abnormal_respiratory_system1.42958539
44MP0004510_myositis1.42435726
45MP0008260_abnormal_autophagy1.35128408
46MP0003303_peritoneal_inflammation1.34300205
47MP0002009_preneoplasia1.30964008
48MP0005075_abnormal_melanosome_morpholog1.30676867
49MP0003191_abnormal_cellular_cholesterol1.29641628
50MP0005310_abnormal_salivary_gland1.29233226
51MP0003448_altered_tumor_morphology1.25813823
52MP0002277_abnormal_respiratory_mucosa1.23760452
53MP0000490_abnormal_crypts_of1.18724902
54MP0003828_pulmonary_edema1.16638637
55MP0002019_abnormal_tumor_incidence1.16610322
56MP0008057_abnormal_DNA_replication1.12457559
57MP0010352_gastrointestinal_tract_polyps1.11104268
58MP0010094_abnormal_chromosome_stability1.09448690
59MP0005397_hematopoietic_system_phenotyp1.07943917
60MP0001545_abnormal_hematopoietic_system1.07943917
61MP0000465_gastrointestinal_hemorrhage1.07631136
62MP0003172_abnormal_lysosome_physiology1.06276047
63MP0008469_abnormal_protein_level1.01587813
64MP0004883_abnormal_blood_vessel0.98248530
65MP0003077_abnormal_cell_cycle0.95509601
66MP0001851_eye_inflammation0.94313412
67MP0001533_abnormal_skeleton_physiology0.91861370
68MP0001986_abnormal_taste_sensitivity0.91696727
69MP0008961_abnormal_basal_metabolism0.85495152
70MP0009278_abnormal_bone_marrow0.85271089
71MP0004130_abnormal_muscle_cell0.83205876
72MP0004957_abnormal_blastocyst_morpholog0.83010221
73MP0003690_abnormal_glial_cell0.80597470
74MP0002998_abnormal_bone_remodeling0.78981482
75MP0005023_abnormal_wound_healing0.77608815
76MP0003693_abnormal_embryo_hatching0.77186125
77MP0005451_abnormal_body_composition0.76243981
78MP0005174_abnormal_tail_pigmentation0.73866240
79MP0005166_decreased_susceptibility_to0.72780739
80MP0008058_abnormal_DNA_repair0.71427610
81MP0003183_abnormal_peptide_metabolism0.70888752
82MP0005390_skeleton_phenotype0.69560986
83MP0005076_abnormal_cell_differentiation0.69514828
84MP0003045_fibrosis0.69172437
85MP0008007_abnormal_cellular_replicative0.67285629
86MP0002138_abnormal_hepatobiliary_system0.66688046
87MP0001243_abnormal_dermal_layer0.63134141
88MP0009765_abnormal_xenobiotic_induced0.62759784
89MP0009763_increased_sensitivity_to0.62449099
90MP0005164_abnormal_response_to0.62076026
91MP0000604_amyloidosis0.58361829
92MP0000477_abnormal_intestine_morphology0.57732564
93MP0003111_abnormal_nucleus_morphology0.57294566
94MP0000249_abnormal_blood_vessel0.56625369
95MP0002095_abnormal_skin_pigmentation0.56224764
96MP0000609_abnormal_liver_physiology0.53899453
97MP0003795_abnormal_bone_structure0.51928168
98MP0000015_abnormal_ear_pigmentation0.51909353
99MP0000313_abnormal_cell_death0.51466013
100MP0001191_abnormal_skin_condition0.51109462
101MP0001348_abnormal_lacrimal_gland0.50181268
102MP0000350_abnormal_cell_proliferation0.46108674
103MP0001216_abnormal_epidermal_layer0.45834363
104MP0009764_decreased_sensitivity_to0.45711717
105MP0008874_decreased_physiological_sensi0.44747845
106MP0002136_abnormal_kidney_physiology0.44580781
107MP0002163_abnormal_gland_morphology0.43384603
108MP0001663_abnormal_digestive_system0.42784525
109MP0000367_abnormal_coat/_hair0.42771353
110MP0001765_abnormal_ion_homeostasis0.41927066
111MP0010307_abnormal_tumor_latency0.41646913
112MP0004185_abnormal_adipocyte_glucose0.41365811
113MP0003453_abnormal_keratinocyte_physiol0.41200249
114MP0002083_premature_death0.39338266
115MP0003787_abnormal_imprinting0.38737900
116MP0002693_abnormal_pancreas_physiology0.38665339
117MP0003221_abnormal_cardiomyocyte_apopto0.38654363
118MP0008873_increased_physiological_sensi0.37983684
119MP0001919_abnormal_reproductive_system0.37838318
120MP0008770_decreased_survivor_rate0.37495665
121MP0005381_digestive/alimentary_phenotyp0.37490396
122MP0002928_abnormal_bile_duct0.37228954
123MP0003786_premature_aging0.36373010
124MP0008995_early_reproductive_senescence0.36100000
125MP0005058_abnormal_lysosome_morphology0.35943772

Predicted human phenotypes

RankGene SetZ-score
1* T lymphocytopenia (HP:0005403)8.23782575
2* Abnormality of T cell number (HP:0011839)7.89718801
3Severe combined immunodeficiency (HP:0004430)7.03057113
4Combined immunodeficiency (HP:0005387)6.66631795
5Panhypogammaglobulinemia (HP:0003139)5.68962215
6* Abnormality of T cells (HP:0002843)5.50746342
7Elevated erythrocyte sedimentation rate (HP:0003565)5.49090964
8B lymphocytopenia (HP:0010976)5.21360502
9Abnormality of B cell number (HP:0010975)5.21360502
10IgG deficiency (HP:0004315)5.06694850
11Recurrent bacterial skin infections (HP:0005406)4.97405285
12Recurrent fungal infections (HP:0002841)4.96533224
13Recurrent bronchitis (HP:0002837)4.79535440
14Stomatitis (HP:0010280)4.76989933
15Thyroiditis (HP:0100646)4.72670139
16Abnormality of macrophages (HP:0004311)4.60232994
17Nasal polyposis (HP:0100582)4.48296694
18Hypoplasia of the thymus (HP:0000778)4.44945190
19Chronic otitis media (HP:0000389)4.36121467
20IgM deficiency (HP:0002850)4.22055616
21* Recurrent viral infections (HP:0004429)4.20989629
22Autoimmune hemolytic anemia (HP:0001890)4.17156106
23Increased IgM level (HP:0003496)4.11000487
24Chronic mucocutaneous candidiasis (HP:0002728)3.96516378
25Recurrent cutaneous fungal infections (HP:0011370)3.96516378
26Abnormality of the fingertips (HP:0001211)3.88889065
27Abnormal delayed hypersensitivity skin test (HP:0002963)3.83845761
28Abnormality of the nasal mucosa (HP:0000433)3.75437434
29Pustule (HP:0200039)3.72843305
30Chronic diarrhea (HP:0002028)3.62691288
31Eczematoid dermatitis (HP:0000976)3.53275026
32Lymphopenia (HP:0001888)3.52712789
33Myositis (HP:0100614)3.52080026
34Recurrent gram-negative bacterial infections (HP:0005420)3.47987455
35Abnormality of cells of the lymphoid lineage (HP:0012140)3.42176390
36Abnormality of T cell physiology (HP:0011840)3.36653622
37* Abnormality of eosinophils (HP:0001879)3.34388249
38Autoimmune thrombocytopenia (HP:0001973)3.08500439
39Meningitis (HP:0001287)2.99492051
40Lymphoma (HP:0002665)2.96675765
41* Leukocytosis (HP:0001974)2.96022065
42* Eosinophilia (HP:0001880)2.95024587
43Hypochromic anemia (HP:0001931)2.93022990
44Basal cell carcinoma (HP:0002671)2.89874335
45Papilledema (HP:0001085)2.85794346
46Gingivitis (HP:0000230)2.83488760
47Spontaneous hematomas (HP:0007420)2.81330680
48Urticaria (HP:0001025)2.78740494
49Hypoproteinemia (HP:0003075)2.76971807
50Gastrointestinal infarctions (HP:0005244)2.72502773
51Bronchitis (HP:0012387)2.70295688
52Encephalitis (HP:0002383)2.69658479
53Hypergammaglobulinemia (HP:0010702)2.68700479
54Hemoptysis (HP:0002105)2.65061085
55Hypochromic microcytic anemia (HP:0004840)2.63129331
56* Granulocytopenia (HP:0001913)2.56477697
57IgA deficiency (HP:0002720)2.55615162
58Anorexia (HP:0002039)2.54414326
59Vasculitis (HP:0002633)2.54287983
60Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.53000153
61Slow saccadic eye movements (HP:0000514)2.46610457
62Recurrent sinusitis (HP:0011108)2.44916638
63Gastrointestinal inflammation (HP:0004386)2.43428668
64Inflammation of the large intestine (HP:0002037)2.40500924
65Increased IgE level (HP:0003212)2.40308302
66Aplasia/Hypoplasia of the thymus (HP:0010515)2.39678928
67Pulmonary infiltrates (HP:0002113)2.39146220
68Cellulitis (HP:0100658)2.37023400
69Stomach cancer (HP:0012126)2.36604633
70Mediastinal lymphadenopathy (HP:0100721)2.35902861
71Episodic fever (HP:0001954)2.35110880
72* Joint swelling (HP:0001386)2.34600356
73Verrucae (HP:0200043)2.34241431
74Papilloma (HP:0012740)2.34241431
75Colitis (HP:0002583)2.31832405
76Retrobulbar optic neuritis (HP:0100654)2.31664659
77Optic neuritis (HP:0100653)2.31664659
78Chronic sinusitis (HP:0011109)2.29519837
79Chronic obstructive pulmonary disease (HP:0006510)2.28626985
80Obstructive lung disease (HP:0006536)2.28626985
81Acute hepatic failure (HP:0006554)2.27845795
82Recurrent otitis media (HP:0000403)2.25410767
83Thrombocytosis (HP:0001894)2.24328836
84Hemiplegia (HP:0002301)2.22292101
85Recurrent skin infections (HP:0001581)2.18658487
86Gangrene (HP:0100758)2.18524640
87Sepsis (HP:0100806)2.15081201
88Bronchiectasis (HP:0002110)2.12627898
89Cheilitis (HP:0100825)2.12280506
90Recurrent abscess formation (HP:0002722)2.10925368
91Abnormal platelet volume (HP:0011876)2.09980800
92Abnormality of the pleura (HP:0002103)2.09383427
93Glomerulopathy (HP:0100820)2.06669056
94Orchitis (HP:0100796)2.06551832
95Keratitis (HP:0000491)2.05762965
96Agammaglobulinemia (HP:0004432)2.05018811
97Gastrointestinal stroma tumor (HP:0100723)2.02991814
98Cellular immunodeficiency (HP:0005374)2.02508870
99Ureteral stenosis (HP:0000071)2.02476147
100Epistaxis (HP:0000421)2.02324007
101Chest pain (HP:0100749)1.97458832
102Abnormality of the prostate (HP:0008775)1.97302521
103Osteomyelitis (HP:0002754)1.94652595
104Petechiae (HP:0000967)1.91850632
105Amaurosis fugax (HP:0100576)1.91597079
106Bicuspid aortic valve (HP:0001647)1.90707967
107Abnormality of the thymus (HP:0000777)1.90470242
108Prolonged bleeding time (HP:0003010)1.88484152
109Trigonocephaly (HP:0000243)1.87754487
110Ureteral obstruction (HP:0006000)1.86814364
111Poikiloderma (HP:0001029)1.85632436
112Keratoconjunctivitis sicca (HP:0001097)1.84445636
113Pulmonary embolism (HP:0002204)1.82864515
114Arterial thrombosis (HP:0004420)1.80635203
115Abnormality of oral frenula (HP:0000190)1.79075740
116Increased density of long bones (HP:0006392)1.77968365
117Hepatitis (HP:0012115)1.74753320
118Dislocated radial head (HP:0003083)1.72056292
119Gingival bleeding (HP:0000225)1.71051828
120Skin ulcer (HP:0200042)1.69974662
121Keratoconjunctivitis (HP:0001096)1.64836077
122Entropion (HP:0000621)1.63141949
123Abnormality of cells of the erythroid lineage (HP:0012130)1.62766330
124Periodontitis (HP:0000704)1.61966414
125Microcytic anemia (HP:0001935)1.60740184

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TXK6.59176095
2MAP4K15.62157443
3TAOK33.56882208
4ITK3.54650494
5ZAP703.54462570
6RIPK43.18029571
7JAK33.08444814
8FGFR42.95948551
9PRPF4B2.75384877
10STK102.72206037
11IKBKE2.54353628
12GRK62.52967445
13TYK22.48519207
14NLK2.48264914
15FGFR32.01558440
16MST41.93308539
17* LCK1.90985721
18CSK1.79189310
19JAK11.78944345
20TEC1.72876982
21ERN11.67160047
22NME21.64559227
23MAP2K31.58501264
24MAP3K101.57827608
25MAP3K141.56983047
26SYK1.55940106
27EEF2K1.49479573
28HCK1.46105532
29KDR1.45657192
30TESK21.43268351
31BTK1.40329537
32TBK11.39381702
33PRKCQ1.28487458
34CAMKK21.27959542
35PRKCH1.19481900
36PKN21.13142763
37LRRK21.10409584
38CDK121.09414856
39CLK11.05472776
40CAMKK11.04243931
41MAP3K111.01969676
42BLK1.01889943
43FGR0.97687162
44MARK30.97630803
45MAP3K130.96278988
46MAP3K30.96162236
47RPS6KA40.96094388
48PDGFRB0.94847343
49TNK20.92462751
50IKBKB0.91754738
51MAP3K70.91333821
52SIK20.88294712
53JAK20.86565195
54PIM10.84914381
55MAP2K20.81388968
56MAP3K10.79231004
57TYRO30.73675161
58LYN0.71424798
59KIT0.70955688
60IRAK40.70809278
61TRIB30.68610186
62CDK40.66843966
63FES0.65964456
64EPHB10.63335005
65CHUK0.63138126
66SIK30.61934828
67MAPK70.61452075
68STK40.60055104
69CDC70.59179968
70MARK20.57619670
71PIK3CG0.56936887
72FGFR10.56540184
73BRD40.56248070
74TGFBR20.55592456
75PASK0.55229607
76STK380.55136267
77BMPR20.54314074
78HIPK20.53627681
79MELK0.53300623
80EPHA30.51196565
81ALK0.51080765
82FGFR20.49096673
83KSR20.45516860
84STK110.44537714
85TAOK20.44015464
86PDK10.43394266
87SMG10.42637343
88PRKD20.41849880
89CSF1R0.41730572
90DYRK1B0.41652939
91CDC42BPA0.41509884
92* INSR0.40162314
93MAPK110.40013285
94GRK70.39570431
95IGF1R0.38610237
96PDPK10.36847163
97TTN0.36490910
98FLT30.35983394
99NEK20.35702744
100SGK30.35155868
101TGFBR10.34996436
102MAP3K120.34420282
103MAP2K60.34318892
104* FYN0.33950651
105RPS6KB20.33883666
106PTK2B0.32912437
107CDK60.32525414
108MAPKAPK20.32450581
109RET0.32064622
110TSSK60.31775184
111MAPK40.31528035
112CDK90.31208419
113MAPK120.31111896
114IRAK10.30467395
115TAOK10.30038202
116NEK60.29513217
117STK240.29193569
118MAPK30.28970331
119MATK0.28918558
120RPS6KL10.28014771
121RPS6KC10.28014771
122MAP3K80.27758493
123ATR0.27395313
124CAMK40.26915108
125PTK60.23881870
126TLK10.23515646
127DMPK0.23000832
128RPS6KA50.22575461
129NUAK10.21630545
130RPS6KA60.20091800
131CHEK10.19188766
132YES10.19027845
133SIK10.17845579

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053406.31967354
2* T cell receptor signaling pathway_Homo sapiens_hsa046604.05872178
3Graft-versus-host disease_Homo sapiens_hsa053323.25338988
4* Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.93697184
5Measles_Homo sapiens_hsa051622.84754786
6Allograft rejection_Homo sapiens_hsa053302.81853491
7Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.78627389
8Antigen processing and presentation_Homo sapiens_hsa046122.72368422
9Intestinal immune network for IgA production_Homo sapiens_hsa046722.71069681
10NF-kappa B signaling pathway_Homo sapiens_hsa040642.46465085
11Hematopoietic cell lineage_Homo sapiens_hsa046402.27079368
12Autoimmune thyroid disease_Homo sapiens_hsa053202.08225595
13Viral myocarditis_Homo sapiens_hsa054161.91335068
14Osteoclast differentiation_Homo sapiens_hsa043801.67737326
15Leishmaniasis_Homo sapiens_hsa051401.63004524
16Non-homologous end-joining_Homo sapiens_hsa034501.60522346
17Jak-STAT signaling pathway_Homo sapiens_hsa046301.59668606
18Herpes simplex infection_Homo sapiens_hsa051681.58999216
19Ribosome_Homo sapiens_hsa030101.53870264
20RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.48099630
21Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.43123144
22Type I diabetes mellitus_Homo sapiens_hsa049401.40393178
23B cell receptor signaling pathway_Homo sapiens_hsa046621.37255079
24Acute myeloid leukemia_Homo sapiens_hsa052211.33763595
25Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.31266551
26Leukocyte transendothelial migration_Homo sapiens_hsa046701.30276829
27Hepatitis B_Homo sapiens_hsa051611.24136048
28Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.23596700
29Chemokine signaling pathway_Homo sapiens_hsa040621.22069937
30HTLV-I infection_Homo sapiens_hsa051661.21035103
31Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.17567235
32Toxoplasmosis_Homo sapiens_hsa051451.17386282
33* Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.07245358
34Influenza A_Homo sapiens_hsa051641.06711594
35Colorectal cancer_Homo sapiens_hsa052101.06664058
36NOD-like receptor signaling pathway_Homo sapiens_hsa046211.03265335
37Spliceosome_Homo sapiens_hsa030401.01067261
38Shigellosis_Homo sapiens_hsa051310.97654949
39Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.96957314
40Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.96934545
41Pancreatic cancer_Homo sapiens_hsa052120.94837537
42Chronic myeloid leukemia_Homo sapiens_hsa052200.93222633
43Apoptosis_Homo sapiens_hsa042100.90486805
44Toll-like receptor signaling pathway_Homo sapiens_hsa046200.90324017
45Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.86896217
46TNF signaling pathway_Homo sapiens_hsa046680.83429261
47DNA replication_Homo sapiens_hsa030300.83421744
48Epstein-Barr virus infection_Homo sapiens_hsa051690.81425856
49Viral carcinogenesis_Homo sapiens_hsa052030.79942381
50Asthma_Homo sapiens_hsa053100.77788115
51African trypanosomiasis_Homo sapiens_hsa051430.76415002
52Mismatch repair_Homo sapiens_hsa034300.75810976
53Thyroid cancer_Homo sapiens_hsa052160.74225693
54Hepatitis C_Homo sapiens_hsa051600.73764361
55Platelet activation_Homo sapiens_hsa046110.73209991
56Prolactin signaling pathway_Homo sapiens_hsa049170.71146996
57Legionellosis_Homo sapiens_hsa051340.70460532
58Base excision repair_Homo sapiens_hsa034100.68677688
59Malaria_Homo sapiens_hsa051440.66540376
60Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.66314006
61SNARE interactions in vesicular transport_Homo sapiens_hsa041300.65336067
62VEGF signaling pathway_Homo sapiens_hsa043700.64767963
63Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.64490760
64AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.64140646
65Other glycan degradation_Homo sapiens_hsa005110.63990343
66Phagosome_Homo sapiens_hsa041450.62360808
67p53 signaling pathway_Homo sapiens_hsa041150.61351500
68RNA degradation_Homo sapiens_hsa030180.60409800
69mRNA surveillance pathway_Homo sapiens_hsa030150.60383871
70Non-small cell lung cancer_Homo sapiens_hsa052230.58205766
71Notch signaling pathway_Homo sapiens_hsa043300.57937363
72Phospholipase D signaling pathway_Homo sapiens_hsa040720.57443010
73Staphylococcus aureus infection_Homo sapiens_hsa051500.56519617
74Regulation of autophagy_Homo sapiens_hsa041400.56519383
75Carbohydrate digestion and absorption_Homo sapiens_hsa049730.55035620
76Transcriptional misregulation in cancer_Homo sapiens_hsa052020.54823233
77Adipocytokine signaling pathway_Homo sapiens_hsa049200.54354747
78Salmonella infection_Homo sapiens_hsa051320.54236341
79Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.53733018
80Endometrial cancer_Homo sapiens_hsa052130.53175675
81Phosphatidylinositol signaling system_Homo sapiens_hsa040700.52471512
82Tuberculosis_Homo sapiens_hsa051520.51506438
83FoxO signaling pathway_Homo sapiens_hsa040680.48687553
84Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.47507760
85Small cell lung cancer_Homo sapiens_hsa052220.46609601
86Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.45778526
87Regulation of actin cytoskeleton_Homo sapiens_hsa048100.45535306
88Prostate cancer_Homo sapiens_hsa052150.44967499
89RNA transport_Homo sapiens_hsa030130.43633547
90Glycerophospholipid metabolism_Homo sapiens_hsa005640.43204769
91Pertussis_Homo sapiens_hsa051330.42899770
92Nucleotide excision repair_Homo sapiens_hsa034200.42042662
93Ras signaling pathway_Homo sapiens_hsa040140.41210096
94Neurotrophin signaling pathway_Homo sapiens_hsa047220.40550964
95Cell cycle_Homo sapiens_hsa041100.40135314
96Endocytosis_Homo sapiens_hsa041440.39132369
97Adherens junction_Homo sapiens_hsa045200.39020740
98GnRH signaling pathway_Homo sapiens_hsa049120.38689285
99Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.38371198
100Long-term potentiation_Homo sapiens_hsa047200.37676449
101Dorso-ventral axis formation_Homo sapiens_hsa043200.37316700
102mTOR signaling pathway_Homo sapiens_hsa041500.36693754
103Rap1 signaling pathway_Homo sapiens_hsa040150.34459832
104ErbB signaling pathway_Homo sapiens_hsa040120.34135140
105Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.33920829
106Thyroid hormone signaling pathway_Homo sapiens_hsa049190.31162087
107Homologous recombination_Homo sapiens_hsa034400.30413441
108Proteasome_Homo sapiens_hsa030500.29874656
109Type II diabetes mellitus_Homo sapiens_hsa049300.29782793
110Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.28528428
111Choline metabolism in cancer_Homo sapiens_hsa052310.28497859
112MAPK signaling pathway_Homo sapiens_hsa040100.28401339
113HIF-1 signaling pathway_Homo sapiens_hsa040660.28251694
114Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.28010250
115Sphingolipid signaling pathway_Homo sapiens_hsa040710.27460438
116Rheumatoid arthritis_Homo sapiens_hsa053230.27164951
117Fanconi anemia pathway_Homo sapiens_hsa034600.27135919
118Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.27008587
119Renal cell carcinoma_Homo sapiens_hsa052110.26233604
120Pathways in cancer_Homo sapiens_hsa052000.25176459
121MicroRNAs in cancer_Homo sapiens_hsa052060.24206021
122Insulin resistance_Homo sapiens_hsa049310.22352931
123Inositol phosphate metabolism_Homo sapiens_hsa005620.21592559

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