TREX1

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 a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neutrophil activation involved in immune response (GO:0002283)5.24930037
2antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.23768692
3response to peptidoglycan (GO:0032494)5.19531145
4positive regulation of interferon-alpha production (GO:0032727)5.14563300
5type I interferon signaling pathway (GO:0060337)4.93694947
6cellular response to type I interferon (GO:0071357)4.93694947
7response to type I interferon (GO:0034340)4.88198274
8regulation of interferon-alpha production (GO:0032647)4.85650689
9positive regulation by symbiont of host defense response (GO:0052509)4.79448924
10modulation by symbiont of host defense response (GO:0052031)4.79448924
11modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.79448924
12modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.79448924
13positive regulation by organism of defense response of other organism involved in symbiotic interact4.79448924
14modulation by symbiont of host immune response (GO:0052553)4.79448924
15regulation of T-helper 1 cell differentiation (GO:0045625)4.74441207
16immunoglobulin mediated immune response (GO:0016064)4.62244226
17cellular response to exogenous dsRNA (GO:0071360)4.51598610
18negative regulation of cell killing (GO:0031342)4.45589294
19negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.45589294
20lipopolysaccharide-mediated signaling pathway (GO:0031663)4.31448157
21negative regulation of viral genome replication (GO:0045071)4.30248331
22antigen processing and presentation of endogenous antigen (GO:0019883)4.25749719
23negative regulation of interleukin-12 production (GO:0032695)4.15916425
24positive regulation of chemokine biosynthetic process (GO:0045080)4.14244207
25positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.12185623
26granulocyte activation (GO:0036230)4.07802473
27response to interferon-alpha (GO:0035455)4.05356899
28antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.97998474
29antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.97998474
30detection of bacterium (GO:0016045)3.96108054
31regulation of activation of Janus kinase activity (GO:0010533)3.93704228
32detection of other organism (GO:0098543)3.89864208
33defense response to protozoan (GO:0042832)3.89539799
34regulation of chemokine biosynthetic process (GO:0045073)3.83580325
35respiratory burst (GO:0045730)3.80916326
36interferon-gamma-mediated signaling pathway (GO:0060333)3.77899865
37* response to interferon-beta (GO:0035456)3.77391559
38neutrophil activation (GO:0042119)3.76107487
39regulation of interferon-beta biosynthetic process (GO:0045357)3.74341078
40macrophage activation involved in immune response (GO:0002281)3.71496815
41positive regulation of interferon-beta production (GO:0032728)3.68085704
42positive regulation of type 2 immune response (GO:0002830)3.67955005
43hydrogen peroxide biosynthetic process (GO:0050665)3.66855785
44eosinophil chemotaxis (GO:0048245)3.65657052
45regulation of B cell receptor signaling pathway (GO:0050855)3.64210558
46* cellular response to interferon-beta (GO:0035458)3.63226819
47B cell mediated immunity (GO:0019724)3.59816698
48cellular response to zinc ion (GO:0071294)3.59408135
49positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.56361770
50superoxide anion generation (GO:0042554)3.55700108
51T-helper 1 type immune response (GO:0042088)3.55014645
52positive regulation of natural killer cell differentiation (GO:0032825)3.54328055
53positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)3.54266224
54natural killer cell mediated cytotoxicity (GO:0042267)3.52543095
55natural killer cell mediated immunity (GO:0002228)3.52543095
56response to muramyl dipeptide (GO:0032495)3.52159962
57monocyte chemotaxis (GO:0002548)3.52027324
58positive regulation of antigen processing and presentation (GO:0002579)3.51333527
59myeloid dendritic cell differentiation (GO:0043011)3.50067317
60positive regulation of interleukin-12 production (GO:0032735)3.49657776
61T cell migration (GO:0072678)3.42759905
62response to protozoan (GO:0001562)3.39232006
63response to host immune response (GO:0052572)3.38108014
64response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.38108014
65regulation of RIG-I signaling pathway (GO:0039535)3.36984177
66regulation of dendritic cell antigen processing and presentation (GO:0002604)3.36585609
67positive regulation of heat generation (GO:0031652)3.36327933
68positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.35367843
69positive regulation of lymphocyte migration (GO:2000403)3.35316055
70reactive oxygen species biosynthetic process (GO:1903409)3.33534814
71positive regulation of gamma-delta T cell activation (GO:0046645)3.33484234
72positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.33096291
73myeloid cell activation involved in immune response (GO:0002275)3.32236763
74myeloid dendritic cell activation (GO:0001773)3.32166216
75cellular response to virus (GO:0098586)3.31815729
76negative regulation of interleukin-17 production (GO:0032700)3.31537000
77negative regulation of myeloid cell apoptotic process (GO:0033033)3.30194678
78positive regulation of B cell differentiation (GO:0045579)3.29532313
79cellular response to interferon-alpha (GO:0035457)3.27593302
80production of molecular mediator involved in inflammatory response (GO:0002532)3.27377803
81regulation of fever generation (GO:0031620)3.27351538
82lymphocyte chemotaxis (GO:0048247)3.27318969
83positive regulation of T-helper cell differentiation (GO:0045624)3.26764253
84positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.26125933
85regulation of gamma-delta T cell activation (GO:0046643)3.24229234
86regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.23596429
87eosinophil migration (GO:0072677)3.22055472
88negative regulation of T cell mediated immunity (GO:0002710)3.19033786
89regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)3.18935344
90positive regulation of monocyte chemotaxis (GO:0090026)3.17182013
91regulation of T cell tolerance induction (GO:0002664)3.16848565
92positive regulation of interleukin-17 production (GO:0032740)3.15318946
93regulation of mononuclear cell migration (GO:0071675)3.14701248
94B cell receptor signaling pathway (GO:0050853)3.13658344
95detection of external biotic stimulus (GO:0098581)3.13631523
96positive regulation of alpha-beta T cell proliferation (GO:0046641)3.13471680
97regulation of interleukin-17 production (GO:0032660)3.13152186
98positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)3.11482443
99positive regulation of inflammatory response to antigenic stimulus (GO:0002863)3.10835172
100cytidine catabolic process (GO:0006216)3.09689061
101cytidine deamination (GO:0009972)3.09689061
102cytidine metabolic process (GO:0046087)3.09689061
103positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.09160592
104regulation of interleukin-12 biosynthetic process (GO:0045075)3.08957659
105regulation of antigen processing and presentation (GO:0002577)3.07526393
106cellular response to interferon-gamma (GO:0071346)3.07447227
107negative regulation of cytokine production involved in immune response (GO:0002719)3.04866554
108response to interferon-gamma (GO:0034341)3.03179637
109regulation of tolerance induction (GO:0002643)3.01986443
110leukocyte aggregation (GO:0070486)3.01118551
111regulation of T-helper cell differentiation (GO:0045622)3.01114616
112regulation of alpha-beta T cell proliferation (GO:0046640)3.00386660
113regulation of immunoglobulin secretion (GO:0051023)3.00330387
114leukocyte mediated cytotoxicity (GO:0001909)2.99983243
115mature B cell differentiation involved in immune response (GO:0002313)2.99495589
116NIK/NF-kappaB signaling (GO:0038061)2.99436506
117microglial cell activation (GO:0001774)2.98885226
118response to host (GO:0075136)2.98299477
119response to host defenses (GO:0052200)2.98299477
120response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.98299477
121regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.98049021
122positive regulation of heterotypic cell-cell adhesion (GO:0034116)2.97116823
123positive thymic T cell selection (GO:0045059)2.95156307
124negative regulation of lymphocyte mediated immunity (GO:0002707)2.94160182
125regulation of T cell mediated cytotoxicity (GO:0001914)2.87305476
126cellular response to interleukin-15 (GO:0071350)2.86413598
127DNA deamination (GO:0045006)2.86260945
128negative T cell selection (GO:0043383)2.83880504
129negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.83634928
130positive regulation of B cell mediated immunity (GO:0002714)2.82959547
131positive regulation of immunoglobulin mediated immune response (GO:0002891)2.82959547
132regulation of interleukin-12 production (GO:0032655)2.82058246
133germinal center formation (GO:0002467)2.81937030
134positive regulation of T cell mediated cytotoxicity (GO:0001916)2.81306316
135negative thymic T cell selection (GO:0045060)2.81219188
136regulation of B cell differentiation (GO:0045577)2.79017480
137regulation of mast cell degranulation (GO:0043304)2.78830740
138positive regulation of interleukin-10 production (GO:0032733)2.78365558
139Arp2/3 complex-mediated actin nucleation (GO:0034314)2.77670858
140negative regulation of innate immune response (GO:0045824)2.76632314
141positive regulation of defense response to virus by host (GO:0002230)2.76607984
142regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.76049146
143negative regulation of leukocyte mediated immunity (GO:0002704)2.75715563
144regulation of regulatory T cell differentiation (GO:0045589)2.75373530
145positive regulation of isotype switching (GO:0045830)2.73631476

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* IRF8_22096565_ChIP-ChIP_GC-B_Human7.92024639
2BP1_19119308_ChIP-ChIP_Hs578T_Human7.37393271
3IRF8_21731497_ChIP-ChIP_J774_Mouse7.26668746
4IRF8_22096565_ChIP-ChIP_GC-B_Mouse5.39371784
5IRF1_21803131_ChIP-Seq_MONOCYTES_Human5.27502467
6IRF8_27001747_Chip-Seq_BMDM_Mouse4.18438599
7FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.79665744
8SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.63714675
9NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.39166214
10MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.26789203
11RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human3.26680211
12* SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.13983337
13* STAT4_19710469_ChIP-ChIP_TH1__Mouse3.04663404
14STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.86403755
15MYB_21317192_ChIP-Seq_ERMYB_Mouse2.77052881
16STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.73321630
17Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.72955255
18EGR1_19374776_ChIP-ChIP_THP-1_Human2.62619930
19NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.18172268
20SPI1_23547873_ChIP-Seq_NB4_Human2.17708812
21* MYC_22102868_ChIP-Seq_BL_Human1.97927395
22* STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.97691371
23CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.88329301
24RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.82039965
25BRD4_27068464_Chip-Seq_AML-cells_Mouse1.81681318
26* MYB_26560356_Chip-Seq_TH2_Human1.78297238
27SCL_19346495_ChIP-Seq_HPC-7_Human1.71922717
28SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.68000107
29CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.66666622
30FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.65596254
31CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.63582187
32MAF_26560356_Chip-Seq_TH1_Human1.59495268
33RUNX1_22412390_ChIP-Seq_EML_Mouse1.55454333
34* VDR_24763502_ChIP-Seq_THP-1_Human1.53972407
35PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.53873503
36PU_27001747_Chip-Seq_BMDM_Mouse1.52586478
37ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.52404390
38RUNX_20019798_ChIP-Seq_JUKART_Human1.44307059
39TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.43377242
40* LXR_22292898_ChIP-Seq_THP-1_Human1.42286804
41MYB_26560356_Chip-Seq_TH1_Human1.40325824
42TP63_17297297_ChIP-ChIP_HaCaT_Human1.39260876
43MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.37351915
44* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.36868840
45NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.36069204
46LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.35228365
47CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.35217133
48BCOR_27268052_Chip-Seq_Bcells_Human1.33200143
49PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.32846813
50CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.31173281
51ELF1_20517297_ChIP-Seq_JURKAT_Human1.30842312
52VDR_24787735_ChIP-Seq_THP-1_Human1.28648419
53* THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.27923215
54SPI1_23127762_ChIP-Seq_K562_Human1.26726591
55PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.23626338
56GATA1_22025678_ChIP-Seq_K562_Human1.23308981
57KDM2B_26808549_Chip-Seq_SUP-B15_Human1.22432015
58LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.21930881
59GATA3_26560356_Chip-Seq_TH2_Human1.21112335
60STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.19326668
61VDR_21846776_ChIP-Seq_THP-1_Human1.18461510
62GATA2_22383799_ChIP-Seq_G1ME_Mouse1.16922129
63GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.15382667
64CIITA_25753668_ChIP-Seq_RAJI_Human1.14181552
65PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.12715908
66EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.11334967
67* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.11241664
68PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.09530017
69SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.08387039
70* GATA3_27048872_Chip-Seq_THYMUS_Human1.07484279
71* KDM2B_26808549_Chip-Seq_DND41_Human1.06787702
72CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.00843184
73UTX_26944678_Chip-Seq_JUKART_Human1.00665685
74VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.00554933
75EGR1_19032775_ChIP-ChIP_M12_Human0.99548590
76CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.96481182
77GATA2_21666600_ChIP-Seq_HMVEC_Human0.96415502
78E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.92338562
79EGR1_23403033_ChIP-Seq_LIVER_Mouse0.92189530
80VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.92020211
81CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.91458815
82P68_20966046_ChIP-Seq_HELA_Human0.91458482
83CTCF_27219007_Chip-Seq_ERYTHROID_Human0.91314801
84P300_27268052_Chip-Seq_Bcells_Human0.90100726
85CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.88359659
86KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.87329644
87SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.86368203
88SMAD_19615063_ChIP-ChIP_OVARY_Human0.86073969
89SRY_22984422_ChIP-ChIP_TESTIS_Rat0.84358749
90GATA1_19941826_ChIP-Seq_K562_Human0.83999534
91PU.1_20513432_ChIP-Seq_Bcells_Mouse0.83385434
92SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.82848875
93NOTCH1_21737748_ChIP-Seq_TLL_Human0.82737030
94GATA1_22383799_ChIP-Seq_G1ME_Mouse0.82704017
95* MAF_26560356_Chip-Seq_TH2_Human0.82542774
96TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.79004837
97* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.78066359
98IKZF1_21737484_ChIP-ChIP_HCT116_Human0.76293248
99TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.76270292
100HOXB4_20404135_ChIP-ChIP_EML_Mouse0.76120609
101ELF1_17652178_ChIP-ChIP_JURKAT_Human0.72834541
102NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.72432206
103GATA1_19941827_ChIP-Seq_MEL_Mouse0.72131613
104ERG_20887958_ChIP-Seq_HPC-7_Mouse0.70469224
105* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.69824933
106* SOX2_20726797_ChIP-Seq_SW620_Human0.66871085
107* ELK3_25401928_ChIP-Seq_HUVEC_Human0.66843227
108SPI1_20517297_ChIP-Seq_HL60_Human0.65756257
109CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.65430740
110TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.65357847
111GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.65197199
112TFEB_21752829_ChIP-Seq_HELA_Human0.61395342
113CTCF_26484167_Chip-Seq_Bcells_Mouse0.61134565
114TCF7_22412390_ChIP-Seq_EML_Mouse0.59697047
115P63_26484246_Chip-Seq_KERATINOCYTES_Human0.58951398
116BCL6_27268052_Chip-Seq_Bcells_Human0.57389474
117STAT1_20625510_ChIP-Seq_HELA_Human0.56639538
118SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.55815627
119SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.55815627
120CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.55779671
121JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.54829311
122RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.53226181

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation5.07928864
2MP0009785_altered_susceptibility_to4.59689934
3MP0002148_abnormal_hypersensitivity_rea4.16167550
4MP0006082_CNS_inflammation3.87982124
5MP0003436_decreased_susceptibility_to3.86557569
6MP0003724_increased_susceptibility_to3.58670453
7MP0005000_abnormal_immune_tolerance3.47180482
8MP0005025_abnormal_response_to3.36151979
9MP0002419_abnormal_innate_immunity3.19634361
10MP0000685_abnormal_immune_system3.19540865
11MP0005671_abnormal_response_to3.15618259
12MP0001790_abnormal_immune_system3.01676433
13MP0005387_immune_system_phenotype3.01676433
14MP0004510_myositis2.85726614
15MP0003303_peritoneal_inflammation2.81948520
16MP0002452_abnormal_antigen_presenting2.78263946
17MP0002723_abnormal_immune_serum2.72088297
18MP0001800_abnormal_humoral_immune2.71960812
19MP0003806_abnormal_nucleotide_metabolis2.59060532
20MP0001819_abnormal_immune_cell2.40511167
21MP0002420_abnormal_adaptive_immunity2.36681692
22MP0009764_decreased_sensitivity_to2.19245102
23MP0002006_tumorigenesis2.11377999
24MP0001533_abnormal_skeleton_physiology2.09585098
25MP0004947_skin_inflammation2.08734678
26MP0001845_abnormal_inflammatory_respons1.95991275
27MP0002405_respiratory_system_inflammati1.94390351
28MP0005464_abnormal_platelet_physiology1.94200730
29MP0008469_abnormal_protein_level1.82882330
30MP0010155_abnormal_intestine_physiology1.81009558
31MP0005058_abnormal_lysosome_morphology1.77072013
32MP0000716_abnormal_immune_system1.75542330
33MP0009333_abnormal_splenocyte_physiolog1.73446846
34MP0002398_abnormal_bone_marrow1.69546567
35MP0003448_altered_tumor_morphology1.65543019
36MP0005310_abnormal_salivary_gland1.63438177
37* MP0001853_heart_inflammation1.56704547
38MP0000343_altered_response_to1.49281421
39MP0001545_abnormal_hematopoietic_system1.46974385
40MP0005397_hematopoietic_system_phenotyp1.46974385
41MP0003075_altered_response_to1.46222247
42MP0000858_altered_metastatic_potential1.43570480
43MP0009278_abnormal_bone_marrow1.43240591
44MP0002166_altered_tumor_susceptibility1.42694465
45MP0002429_abnormal_blood_cell1.41167418
46MP0003186_abnormal_redox_activity1.37683846
47MP0003191_abnormal_cellular_cholesterol1.30745463
48* MP0000689_abnormal_spleen_morphology1.30016326
49MP0009840_abnormal_foam_cell1.27838445
50MP0002998_abnormal_bone_remodeling1.25450144
51* MP0002722_abnormal_immune_system1.24387985
52MP0003763_abnormal_thymus_physiology1.23265796
53MP0004782_abnormal_surfactant_physiolog1.20327913
54MP0002254_reproductive_system_inflammat1.17582135
55MP0005451_abnormal_body_composition1.12141876
56MP0005166_decreased_susceptibility_to1.11748466
57MP0002277_abnormal_respiratory_mucosa1.10209878
58MP0003172_abnormal_lysosome_physiology1.09246517
59MP0005167_abnormal_blood-brain_barrier1.08738736
60MP0002138_abnormal_hepatobiliary_system1.05093001
61MP0009763_increased_sensitivity_to1.03569718
62MP0005164_abnormal_response_to1.01378202
63MP0004381_abnormal_hair_follicle0.98090896
64MP0005390_skeleton_phenotype0.98039960
65MP0008004_abnormal_stomach_pH0.97669115
66MP0005075_abnormal_melanosome_morpholog0.96946450
67MP0003828_pulmonary_edema0.94232466
68MP0002933_joint_inflammation0.90889404
69MP0004808_abnormal_hematopoietic_stem0.88746144
70MP0003690_abnormal_glial_cell0.87822337
71MP0006054_spinal_hemorrhage0.87488609
72MP0002163_abnormal_gland_morphology0.78203250
73MP0005174_abnormal_tail_pigmentation0.77500925
74MP0003045_fibrosis0.76936685
75MP0000490_abnormal_crypts_of0.76673155
76MP0010307_abnormal_tumor_latency0.76052409
77MP0003453_abnormal_keratinocyte_physiol0.75031986
78MP0001851_eye_inflammation0.72833760
79MP0000249_abnormal_blood_vessel0.71802421
80MP0000604_amyloidosis0.71702440
81MP0008260_abnormal_autophagy0.71331857
82MP0003183_abnormal_peptide_metabolism0.67471485
83MP0003866_abnormal_defecation0.66753687
84MP0001542_abnormal_bone_strength0.65929317
85MP0005319_abnormal_enzyme/_coenzyme0.64722606
86MP0001348_abnormal_lacrimal_gland0.64586402
87MP0002136_abnormal_kidney_physiology0.64326127
88MP0002139_abnormal_hepatobiliary_system0.64292034
89MP0001873_stomach_inflammation0.64098311
90MP0008874_decreased_physiological_sensi0.62712602
91MP0005584_abnormal_enzyme/coenzyme_acti0.62482795
92MP0002396_abnormal_hematopoietic_system0.60963321
93MP0002693_abnormal_pancreas_physiology0.59540513
94* MP0000703_abnormal_thymus_morphology0.58836960
95MP0006036_abnormal_mitochondrial_physio0.58745575
96MP0004883_abnormal_blood_vessel0.57394461
97MP0003656_abnormal_erythrocyte_physiolo0.57273148
98MP0002332_abnormal_exercise_endurance0.56328278
99MP0001346_abnormal_lacrimal_gland0.55997110
100MP0000371_diluted_coat_color0.55057743
101MP0009765_abnormal_xenobiotic_induced0.54727141
102MP0003795_abnormal_bone_structure0.53746182
103MP0008873_increased_physiological_sensi0.52921228
104MP0005535_abnormal_body_temperature0.52913403
105MP0003566_abnormal_cell_adhesion0.52117666
106MP0003646_muscle_fatigue0.51793263
107MP0005076_abnormal_cell_differentiation0.51682408
108MP0002019_abnormal_tumor_incidence0.50063291
109MP0000465_gastrointestinal_hemorrhage0.47789169
110MP0001663_abnormal_digestive_system0.47055961
111MP0005165_increased_susceptibility_to0.46690065
112MP0002132_abnormal_respiratory_system0.46183409
113MP0000015_abnormal_ear_pigmentation0.46134038
114MP0003300_gastrointestinal_ulcer0.45257512
115MP0010352_gastrointestinal_tract_polyps0.44864290
116MP0003091_abnormal_cell_migration0.44336561

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)7.12960463
2Eczematoid dermatitis (HP:0000976)6.87548480
3Recurrent bacterial skin infections (HP:0005406)6.51662377
4Recurrent gram-negative bacterial infections (HP:0005420)5.60186429
5Myositis (HP:0100614)5.34554839
6Autoimmune thrombocytopenia (HP:0001973)5.26693753
7Mediastinal lymphadenopathy (HP:0100721)5.25979038
8Abnormality of macrophages (HP:0004311)5.03547231
9Orchitis (HP:0100796)4.98107869
10Retrobulbar optic neuritis (HP:0100654)4.86635414
11Optic neuritis (HP:0100653)4.86635414
12* Elevated erythrocyte sedimentation rate (HP:0003565)4.66326578
13Increased IgM level (HP:0003496)4.54671847
14Stomatitis (HP:0010280)4.34014660
15Recurrent skin infections (HP:0001581)4.26540313
16Recurrent fungal infections (HP:0002841)3.98456818
17Interstitial pulmonary disease (HP:0006530)3.89706393
18* Vasculitis (HP:0002633)3.89531380
19Gingivitis (HP:0000230)3.85715887
20Obstructive lung disease (HP:0006536)3.78272403
21Chronic obstructive pulmonary disease (HP:0006510)3.78272403
22Chronic otitis media (HP:0000389)3.68741150
23Recurrent viral infections (HP:0004429)3.64783766
24Vacuolated lymphocytes (HP:0001922)3.44403129
25Recurrent cutaneous fungal infections (HP:0011370)3.38925202
26Chronic mucocutaneous candidiasis (HP:0002728)3.38925202
27Hypergammaglobulinemia (HP:0010702)3.32476479
28Increased IgE level (HP:0003212)3.27514350
29Pulmonary infiltrates (HP:0002113)3.22509270
30Gastrointestinal infarctions (HP:0005244)3.17753840
31* Basal ganglia calcification (HP:0002135)3.12531545
32Panhypogammaglobulinemia (HP:0003139)3.09406625
33Meningitis (HP:0001287)3.08013679
34Cellulitis (HP:0100658)3.05567329
35Pustule (HP:0200039)3.04358932
36Tetraparesis (HP:0002273)3.04080537
37Increased neuronal autofluorescent lipopigment (HP:0002074)2.99491599
38Keratoconjunctivitis sicca (HP:0001097)2.97986169
39Autoimmune hemolytic anemia (HP:0001890)2.97276906
40Urticaria (HP:0001025)2.95188826
41Increased cerebral lipofuscin (HP:0011813)2.92753927
42Periodontitis (HP:0000704)2.91948366
43Recurrent pneumonia (HP:0006532)2.91778350
44Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.91756366
45Keratoconjunctivitis (HP:0001096)2.75923762
46Axonal loss (HP:0003447)2.75447492
47Nasal polyposis (HP:0100582)2.74144749
48Recurrent lower respiratory tract infections (HP:0002783)2.73175088
49Hemoptysis (HP:0002105)2.73098848
50Leukocytosis (HP:0001974)2.72595889
51Prostate neoplasm (HP:0100787)2.72349719
52Thick nail (HP:0001805)2.71192773
53Recurrent bronchitis (HP:0002837)2.71116595
54Arterial thrombosis (HP:0004420)2.70116671
55Prolonged bleeding time (HP:0003010)2.67525933
56Loss of speech (HP:0002371)2.64766086
57* Purpura (HP:0000979)2.64617141
58Abnormality of the nasal mucosa (HP:0000433)2.54048945
59Recurrent sinusitis (HP:0011108)2.53428143
60* Systemic lupus erythematosus (HP:0002725)2.51593118
61Abnormal delayed hypersensitivity skin test (HP:0002963)2.45005382
62Increased serum ferritin (HP:0003281)2.44651860
63Abnormality of T cell physiology (HP:0011840)2.43615401
64* Hepatosplenomegaly (HP:0001433)2.42341191
65Abnormality of liposaccharide metabolism (HP:0010968)2.41990001
66Abnormality of glycosphingolipid metabolism (HP:0004343)2.41990001
67Abnormality of glycolipid metabolism (HP:0010969)2.41990001
68Restrictive lung disease (HP:0002091)2.41056192
69Gingival bleeding (HP:0000225)2.39945998
70Thrombocytosis (HP:0001894)2.39184510
71Skin rash (HP:0000988)2.38571705
72Abnormality of T cell number (HP:0011839)2.36759066
73Spontaneous hematomas (HP:0007420)2.36605038
74Joint swelling (HP:0001386)2.34793574
75Gastrointestinal stroma tumor (HP:0100723)2.31381058
76Abnormality of cells of the lymphoid lineage (HP:0012140)2.30993206
77Colitis (HP:0002583)2.29946486
78Osteomyelitis (HP:0002754)2.29257202
79Anorexia (HP:0002039)2.28393403
80Hypertensive crisis (HP:0100735)2.28029691
81Abnormality of T cells (HP:0002843)2.27740244
82Peritonitis (HP:0002586)2.27613210
83Pulmonary embolism (HP:0002204)2.23757433
84Lymphopenia (HP:0001888)2.22204309
85Chronic diarrhea (HP:0002028)2.21894798
86Eosinophilia (HP:0001880)2.21153192
87Disinhibition (HP:0000734)2.20657593
88Severe combined immunodeficiency (HP:0004430)2.19958346
89Premature loss of primary teeth (HP:0006323)2.18833312
90IgM deficiency (HP:0002850)2.16028973
91Glomerulopathy (HP:0100820)2.16003023
92Agammaglobulinemia (HP:0004432)2.14810872
93Gangrene (HP:0100758)2.14000152
94Glomerulonephritis (HP:0000099)2.11400894
95Progressive neurologic deterioration (HP:0002344)2.10897232
96Abnormality of the prostate (HP:0008775)2.09880431
97Chronic sinusitis (HP:0011109)2.09745014
98IgG deficiency (HP:0004315)2.09436262
99Amyloidosis (HP:0011034)2.09012221
100* Arthralgia (HP:0002829)2.08189511
101Abnormality of iron homeostasis (HP:0011031)2.08114730
102IgA deficiency (HP:0002720)2.06469828
103Acute hepatic failure (HP:0006554)2.06377493
104Abnormality of polysaccharide metabolism (HP:0011012)2.05467635
105Abnormality of glycosaminoglycan metabolism (HP:0004371)2.05467635
106Abnormality of mucopolysaccharide metabolism (HP:0011020)2.05467635
107Encephalitis (HP:0002383)2.04769144
108Inflammation of the large intestine (HP:0002037)2.04615801
109Vertebral compression fractures (HP:0002953)2.04060745
110Emphysema (HP:0002097)2.01631293
111Granulocytopenia (HP:0001913)1.98167984
112* Skin ulcer (HP:0200042)1.95496041
113Hematochezia (HP:0002573)1.94893920
114Gastrointestinal inflammation (HP:0004386)1.93752652
115Abnormality of eosinophils (HP:0001879)1.93474915
116Sepsis (HP:0100806)1.93124032
117T lymphocytopenia (HP:0005403)1.92346597
118* Petechiae (HP:0000967)1.91838886
119Dysostosis multiplex (HP:0000943)1.91184122
120Epistaxis (HP:0000421)1.91045422
121* Abnormality of the pleura (HP:0002103)1.90100563
122Chest pain (HP:0100749)1.89904385
123Agnosia (HP:0010524)1.89887893

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K144.54303226
2BLK4.24885204
3TBK14.15164015
4PBK3.44725438
5TYK23.39846162
6IRAK43.23944513
7RIPK43.18987733
8IKBKE3.15629501
9MAP4K12.93895582
10PIM22.92687738
11JAK32.87677462
12IKBKB2.72964935
13TXK2.57769011
14IRAK32.38470567
15KIT2.32585422
16TESK22.01055108
17ERN11.92433064
18JAK11.92083546
19MAP3K131.89243904
20NME21.81487883
21TNK21.74926242
22CHUK1.63312900
23SYK1.60709327
24PRPF4B1.54203895
25ZAP701.52950469
26BMPR21.46671362
27TAOK11.44593109
28RPS6KA41.41583681
29ARAF1.37520406
30BTK1.30985095
31CSK1.28250618
32SIK31.27024807
33TEC1.24753771
34ABL21.24246857
35BCKDK1.20965903
36MST41.20498922
37SMG11.18204635
38NEK91.18174422
39LYN1.18078241
40VRK21.14300101
41PIM11.13713372
42HCK1.12448270
43CSF1R1.11392414
44TLK11.10141847
45BMX1.10079729
46EIF2AK21.06515152
47LCK1.02621297
48FGFR41.02464321
49MATK1.02019622
50MAP3K120.96028272
51JAK20.92068395
52EPHB10.88415653
53FGR0.84840845
54TGFBR20.84746103
55HIPK20.83839713
56MAP3K50.80931868
57MARK30.80744702
58FES0.78945346
59MAP3K110.78407846
60PRKCD0.75414815
61EPHA30.72536754
62DAPK10.72521523
63IRAK10.71266299
64STK40.70656562
65TESK10.68442284
66TAOK30.67077917
67ADRBK20.65802259
68MAPK120.65046532
69KDR0.64549766
70FGFR30.62884762
71STK100.61735282
72MST1R0.60453727
73GRK70.59607500
74ERBB30.58440592
75ABL10.57843300
76YES10.56712630
77TRPM70.56604680
78VRK10.53189526
79PDK10.52886086
80LRRK20.52122079
81BMPR1B0.51585456
82PRKD20.51461792
83MAP2K60.50600968
84NLK0.48492561
85TIE10.48121920
86CDC42BPA0.48102833
87MAP2K30.46731529
88MAPK70.46282030
89IRAK20.45727400
90EGFR0.45181359
91MOS0.45007221
92MAPKAPK20.42828284
93MAPKAPK30.42547668
94FLT30.42194820
95PTK2B0.41653246
96PRKCQ0.40394426
97CLK10.39066093
98MAP3K10.38924561
99MAP3K80.38858402
100TGFBR10.38084557
101MUSK0.37392973
102PDPK10.37049034
103DDR20.36665634
104RPS6KA50.33792624
105SIK10.33414081
106CDK40.32936971
107DAPK30.32845646
108GRK50.32094099
109SCYL20.31456773
110DAPK20.31422392
111RPS6KA60.31232988
112RAF10.27910462
113ITK0.23086478
114PIK3CG0.23004732
115RPS6KA10.22888342
116SIK20.20440989
117MAPK40.19496336
118MAP3K30.18570219
119NUAK10.18371400
120GRK60.17116385
121MAPK110.15746446
122IGF1R0.14328456
123FYN0.13330805
124RPS6KC10.11023634
125RPS6KL10.11023634
126EIF2AK30.09831144
127TAOK20.09550976

Predicted pathways (KEGG)

RankGene SetZ-score
1Graft-versus-host disease_Homo sapiens_hsa053324.08278675
2Allograft rejection_Homo sapiens_hsa053303.37214104
3Leishmaniasis_Homo sapiens_hsa051403.32130405
4* Cytosolic DNA-sensing pathway_Homo sapiens_hsa046233.29940247
5Toll-like receptor signaling pathway_Homo sapiens_hsa046203.08086087
6NF-kappa B signaling pathway_Homo sapiens_hsa040642.71691879
7RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.68701844
8Legionellosis_Homo sapiens_hsa051342.67986670
9NOD-like receptor signaling pathway_Homo sapiens_hsa046212.54967026
10Type I diabetes mellitus_Homo sapiens_hsa049402.50793158
11Staphylococcus aureus infection_Homo sapiens_hsa051502.44360893
12Pertussis_Homo sapiens_hsa051332.42644349
13Measles_Homo sapiens_hsa051622.36910312
14Intestinal immune network for IgA production_Homo sapiens_hsa046722.33584558
15Rheumatoid arthritis_Homo sapiens_hsa053232.31141173
16Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.28345203
17Malaria_Homo sapiens_hsa051442.26256822
18Asthma_Homo sapiens_hsa053102.21056337
19Osteoclast differentiation_Homo sapiens_hsa043802.11276933
20Influenza A_Homo sapiens_hsa051642.08155026
21TNF signaling pathway_Homo sapiens_hsa046682.05901702
22Tuberculosis_Homo sapiens_hsa051522.00570050
23Herpes simplex infection_Homo sapiens_hsa051681.86954955
24African trypanosomiasis_Homo sapiens_hsa051431.86582075
25Salmonella infection_Homo sapiens_hsa051321.76752040
26Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.70067996
27Autoimmune thyroid disease_Homo sapiens_hsa053201.65678361
28Antigen processing and presentation_Homo sapiens_hsa046121.54629119
29Toxoplasmosis_Homo sapiens_hsa051451.54158818
30Hematopoietic cell lineage_Homo sapiens_hsa046401.51948529
31Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.48221684
32Primary immunodeficiency_Homo sapiens_hsa053401.47680590
33Jak-STAT signaling pathway_Homo sapiens_hsa046301.41786805
34Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.36553429
35Chemokine signaling pathway_Homo sapiens_hsa040621.31672895
36B cell receptor signaling pathway_Homo sapiens_hsa046621.28391077
37Apoptosis_Homo sapiens_hsa042101.28162021
38Phagosome_Homo sapiens_hsa041451.25191445
39Shigellosis_Homo sapiens_hsa051311.23016087
40Viral myocarditis_Homo sapiens_hsa054161.20650984
41Lysosome_Homo sapiens_hsa041421.17042380
42Hepatitis B_Homo sapiens_hsa051611.06870758
43Proteasome_Homo sapiens_hsa030501.00420092
44Hepatitis C_Homo sapiens_hsa051600.99627312
45Other glycan degradation_Homo sapiens_hsa005110.94396394
46AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.91204497
47Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.84720857
48Prion diseases_Homo sapiens_hsa050200.83010342
49Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.78368019
50Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.76943671
51Amoebiasis_Homo sapiens_hsa051460.76844135
52Glycosaminoglycan degradation_Homo sapiens_hsa005310.76478710
53Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.74514784
54Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.66350820
55T cell receptor signaling pathway_Homo sapiens_hsa046600.65776906
56SNARE interactions in vesicular transport_Homo sapiens_hsa041300.63035294
57Acute myeloid leukemia_Homo sapiens_hsa052210.60292168
58Leukocyte transendothelial migration_Homo sapiens_hsa046700.59972454
59Epstein-Barr virus infection_Homo sapiens_hsa051690.59484272
60Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.55779528
61Prolactin signaling pathway_Homo sapiens_hsa049170.53033949
62Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.50196238
63Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.44182518
64Adipocytokine signaling pathway_Homo sapiens_hsa049200.43119679
65Complement and coagulation cascades_Homo sapiens_hsa046100.41603143
66Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.41150072
67Endocytosis_Homo sapiens_hsa041440.39651317
68Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.38726535
69Platelet activation_Homo sapiens_hsa046110.38036744
70Transcriptional misregulation in cancer_Homo sapiens_hsa052020.34692887
71HIF-1 signaling pathway_Homo sapiens_hsa040660.33591032
72Chronic myeloid leukemia_Homo sapiens_hsa052200.33239511
73Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.31467331
74Neurotrophin signaling pathway_Homo sapiens_hsa047220.30663142
75Galactose metabolism_Homo sapiens_hsa000520.30489607
76Collecting duct acid secretion_Homo sapiens_hsa049660.29841095
77Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.29726377
78Viral carcinogenesis_Homo sapiens_hsa052030.29591816
79Pentose and glucuronate interconversions_Homo sapiens_hsa000400.29121764
80HTLV-I infection_Homo sapiens_hsa051660.25987302
81Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.25378798
82Small cell lung cancer_Homo sapiens_hsa052220.25301035
83Caffeine metabolism_Homo sapiens_hsa002320.25092722
84Pancreatic cancer_Homo sapiens_hsa052120.24613965
85Oxidative phosphorylation_Homo sapiens_hsa001900.20867854
86Bladder cancer_Homo sapiens_hsa052190.20416720
87Ribosome_Homo sapiens_hsa030100.19697464
88p53 signaling pathway_Homo sapiens_hsa041150.19482944
89Glutathione metabolism_Homo sapiens_hsa004800.18885042
90Fructose and mannose metabolism_Homo sapiens_hsa000510.18244988
91Mineral absorption_Homo sapiens_hsa049780.18033918
92Drug metabolism - other enzymes_Homo sapiens_hsa009830.16300538
93Systemic lupus erythematosus_Homo sapiens_hsa053220.15998224
94Sphingolipid signaling pathway_Homo sapiens_hsa040710.14301484
95Regulation of autophagy_Homo sapiens_hsa041400.12554676
96Vibrio cholerae infection_Homo sapiens_hsa051100.11883694
97DNA replication_Homo sapiens_hsa030300.10980156
98Sphingolipid metabolism_Homo sapiens_hsa006000.10568646
99Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.10011848
100Alcoholism_Homo sapiens_hsa050340.07289354
101VEGF signaling pathway_Homo sapiens_hsa043700.07005626
102Non-small cell lung cancer_Homo sapiens_hsa052230.06749117
103Parkinsons disease_Homo sapiens_hsa050120.06492732
104Pentose phosphate pathway_Homo sapiens_hsa000300.05507185
105Renin-angiotensin system_Homo sapiens_hsa046140.05066025
106Arachidonic acid metabolism_Homo sapiens_hsa005900.04343099
107Notch signaling pathway_Homo sapiens_hsa043300.04078281
108Folate biosynthesis_Homo sapiens_hsa007900.03830795
109Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.03129797
110Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.02470926
111Insulin resistance_Homo sapiens_hsa049310.02262538
112Type II diabetes mellitus_Homo sapiens_hsa049300.01347056
113Homologous recombination_Homo sapiens_hsa034400.00194869
114Proteoglycans in cancer_Homo sapiens_hsa052050.00069063
115Base excision repair_Homo sapiens_hsa03410-0.0112650
116Regulation of actin cytoskeleton_Homo sapiens_hsa04810-0.0060012

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