SPI1

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 an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.86394087
2modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.86394087
3positive regulation by organism of defense response of other organism involved in symbiotic interact5.86394087
4modulation by symbiont of host immune response (GO:0052553)5.86394087
5positive regulation by symbiont of host defense response (GO:0052509)5.86394087
6modulation by symbiont of host defense response (GO:0052031)5.86394087
7response to peptidoglycan (GO:0032494)5.35349374
8neutrophil activation involved in immune response (GO:0002283)5.19948622
9antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.15160877
10immunoglobulin mediated immune response (GO:0016064)5.05473647
11antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.90159352
12antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.90159352
13detection of other organism (GO:0098543)4.89441603
14respiratory burst (GO:0045730)4.87106819
15regulation of interferon-beta biosynthetic process (GO:0045357)4.73704262
16detection of bacterium (GO:0016045)4.73612487
17antigen processing and presentation of endogenous antigen (GO:0019883)4.61854682
18macrophage activation involved in immune response (GO:0002281)4.49597766
19regulation of B cell receptor signaling pathway (GO:0050855)4.44255473
20detection of external biotic stimulus (GO:0098581)4.20070010
21neutrophil mediated immunity (GO:0002446)4.17844252
22Arp2/3 complex-mediated actin nucleation (GO:0034314)4.16414775
23regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.14774633
24response to host immune response (GO:0052572)4.14429515
25response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.14429515
26detection of molecule of bacterial origin (GO:0032490)4.05670675
27positive regulation of B cell differentiation (GO:0045579)4.04637771
28positive regulation of interferon-alpha production (GO:0032727)3.94252408
29positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.92810022
30positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.89176917
31regulation of gamma-delta T cell activation (GO:0046643)3.85350159
32B cell mediated immunity (GO:0019724)3.83747552
33positive regulation of antigen processing and presentation (GO:0002579)3.83316799
34positive regulation of gamma-delta T cell activation (GO:0046645)3.82322046
35neutrophil activation (GO:0042119)3.81855194
36response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.80726298
37response to host (GO:0075136)3.80726298
38response to host defenses (GO:0052200)3.80726298
39response to muramyl dipeptide (GO:0032495)3.79273296
40negative regulation of phagocytosis (GO:0050765)3.77178270
41negative regulation of lymphocyte mediated immunity (GO:0002707)3.76040658
42regulation of interferon-alpha production (GO:0032647)3.75818311
43cellular extravasation (GO:0045123)3.75180707
44granulocyte activation (GO:0036230)3.72041596
45detection of biotic stimulus (GO:0009595)3.71094292
46leukocyte aggregation (GO:0070486)3.65393800
47negative regulation of erythrocyte differentiation (GO:0045647)3.63111989
48response to fungus (GO:0009620)3.60959794
49myeloid cell activation involved in immune response (GO:0002275)3.60769530
50regulation of mast cell degranulation (GO:0043304)3.55658359
51regulation of B cell differentiation (GO:0045577)3.51896969
52negative regulation of interleukin-12 production (GO:0032695)3.49655236
53negative regulation of leukocyte mediated immunity (GO:0002704)3.48085588
54defense response to protozoan (GO:0042832)3.46897300
55lipopolysaccharide-mediated signaling pathway (GO:0031663)3.36802111
56positive regulation of mast cell activation (GO:0033005)3.36655357
57regulation of mast cell activation (GO:0033003)3.36482365
58antigen processing and presentation via MHC class Ib (GO:0002475)3.33085041
59production of molecular mediator involved in inflammatory response (GO:0002532)3.30055650
60regulation of antigen processing and presentation (GO:0002577)3.29680843
61regulation of mast cell activation involved in immune response (GO:0033006)3.29339052
62positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.27612983
63response to interferon-beta (GO:0035456)3.26190125
64negative regulation of T cell mediated immunity (GO:0002710)3.26152786
65myeloid leukocyte mediated immunity (GO:0002444)3.25934308
66negative regulation of cytokine production involved in immune response (GO:0002719)3.23937063
67regulation of T-helper 2 cell differentiation (GO:0045628)3.23062428
68negative regulation of granulocyte differentiation (GO:0030853)3.21848074
69microglial cell activation (GO:0001774)3.21469036
70regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.21159562
71B cell receptor signaling pathway (GO:0050853)3.19789481
72regulation of T cell tolerance induction (GO:0002664)3.19256371
73response to protozoan (GO:0001562)3.18423936
74type I interferon signaling pathway (GO:0060337)3.17662298
75cellular response to type I interferon (GO:0071357)3.17662298
76leukocyte mediated cytotoxicity (GO:0001909)3.16828207
77negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.16381819
78regulation of dendritic cell antigen processing and presentation (GO:0002604)3.16343558
79response to type I interferon (GO:0034340)3.15371867
80regulation of regulated secretory pathway (GO:1903305)3.13630690
81pinocytosis (GO:0006907)3.13617750
82interferon-gamma-mediated signaling pathway (GO:0060333)3.11937656
83reactive oxygen species biosynthetic process (GO:1903409)3.11925329
84defense response to fungus (GO:0050832)3.11617533
85actin nucleation (GO:0045010)3.10661684
86regulation of gamma-delta T cell differentiation (GO:0045586)3.10655174
87regulation of tolerance induction (GO:0002643)3.09954299
88positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.07646988
89positive regulation of mast cell activation involved in immune response (GO:0033008)3.07007799
90positive regulation of mast cell degranulation (GO:0043306)3.07007799
91positive regulation of myeloid leukocyte mediated immunity (GO:0002888)3.05757510
92positive regulation of cellular amide metabolic process (GO:0034250)3.04748209
93response to interleukin-15 (GO:0070672)3.04063213
94cellular response to zinc ion (GO:0071294)3.01315277
95regulation of interleukin-8 biosynthetic process (GO:0045414)3.00973422
96macrophage activation (GO:0042116)3.00944400
97killing of cells in other organism involved in symbiotic interaction (GO:0051883)2.99891036
98disruption of cells of other organism involved in symbiotic interaction (GO:0051818)2.99891036
99negative regulation of interleukin-6 production (GO:0032715)2.98142636
100positive regulation of interferon-beta production (GO:0032728)2.97539674
101negative regulation of growth of symbiont in host (GO:0044130)2.97455296
102negative regulation of growth of symbiont involved in interaction with host (GO:0044146)2.97455296
103modulation of growth of symbiont involved in interaction with host (GO:0044144)2.97455296
104regulation of growth of symbiont in host (GO:0044126)2.97455296
105regulation of leukocyte degranulation (GO:0043300)2.93587650
106regulation of myeloid leukocyte mediated immunity (GO:0002886)2.92473024
107cellular response to interferon-beta (GO:0035458)2.91837292
108neutrophil chemotaxis (GO:0030593)2.91239851
109response to interferon-alpha (GO:0035455)2.90527429
110T-helper 1 type immune response (GO:0042088)2.90483584
111mature B cell differentiation (GO:0002335)2.88939891
112NIK/NF-kappaB signaling (GO:0038061)2.87289349
113positive regulation of leukocyte degranulation (GO:0043302)2.86808790
114negative regulation of innate immune response (GO:0045824)2.86158437
115leukotriene metabolic process (GO:0006691)2.85480241
116hydrogen peroxide biosynthetic process (GO:0050665)2.84995441
117superoxide anion generation (GO:0042554)2.83307621
118negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.82883651
119negative regulation of cell killing (GO:0031342)2.82883651
120neutrophil migration (GO:1990266)2.82687170
121* myeloid leukocyte activation (GO:0002274)2.81540473
122leukocyte migration involved in inflammatory response (GO:0002523)2.80368348
123positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.80001309
124positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.79439236
125germinal center formation (GO:0002467)2.78630947
126leukocyte degranulation (GO:0043299)2.75732082
127positive regulation of chemokine biosynthetic process (GO:0045080)2.75581683
128regulation of interleukin-12 biosynthetic process (GO:0045075)2.74067265
129negative regulation of alpha-beta T cell activation (GO:0046636)2.72144223
130mature B cell differentiation involved in immune response (GO:0002313)2.71918490
131leukocyte mediated immunity (GO:0002443)2.70819772
132pentose-phosphate shunt (GO:0006098)2.70105629

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_21731497_ChIP-ChIP_J774_Mouse4.97257115
2IRF8_22096565_ChIP-ChIP_GC-B_Human4.75332327
3BP1_19119308_ChIP-ChIP_Hs578T_Human3.86603077
4MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.73713349
5MYB_21317192_ChIP-Seq_ERMYB_Mouse3.44280818
6IRF8_27001747_Chip-Seq_BMDM_Mouse3.44273734
7SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.41627523
8E2F7_22180533_ChIP-Seq_HELA_Human3.35198138
9IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.16769687
10EGR1_19374776_ChIP-ChIP_THP-1_Human3.16649557
11NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.13469716
12SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.92927224
13SCL_19346495_ChIP-Seq_HPC-7_Human2.89600149
14* VDR_21846776_ChIP-Seq_THP-1_Human2.82760304
15NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.69444040
16RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.67651960
17* SPI1_23547873_ChIP-Seq_NB4_Human2.64522955
18SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.56495723
19STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.49881209
20IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.48455913
21BRD4_27068464_Chip-Seq_AML-cells_Mouse2.46247251
22MYC_22102868_ChIP-Seq_BL_Human2.32411485
23* VDR_24763502_ChIP-Seq_THP-1_Human2.29090733
24STAT4_19710469_ChIP-ChIP_TH1__Mouse2.18868372
25EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.14581931
26FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.14372582
27RUNX1_22412390_ChIP-Seq_EML_Mouse2.10653828
28ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.10143857
29Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.03684149
30MAF_26560356_Chip-Seq_TH1_Human1.98874484
31MYB_26560356_Chip-Seq_TH2_Human1.94190182
32FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.92125601
33STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.90765113
34SPI1_23127762_ChIP-Seq_K562_Human1.86423720
35MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.86230714
36TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.83735412
37SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.81552956
38NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.79288557
39SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.72512525
40STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.71088817
41UTX_26944678_Chip-Seq_JUKART_Human1.68711392
42MYB_26560356_Chip-Seq_TH1_Human1.68482548
43* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.68320669
44E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.66899137
45TCF7_22412390_ChIP-Seq_EML_Mouse1.66082551
46LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.61504981
47GATA1_22025678_ChIP-Seq_K562_Human1.60519042
48GATA1_22383799_ChIP-Seq_G1ME_Mouse1.53457310
49PU_27001747_Chip-Seq_BMDM_Mouse1.51723105
50CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.51048740
51FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.50104462
52ELF1_17652178_ChIP-ChIP_JURKAT_Human1.49615917
53GATA2_22383799_ChIP-Seq_G1ME_Mouse1.46451545
54STAT6_21828071_ChIP-Seq_BEAS2B_Human1.46196190
55PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.45066216
56CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.43948705
57LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.42906087
58ERG_20887958_ChIP-Seq_HPC-7_Mouse1.40974041
59RUNX_20019798_ChIP-Seq_JUKART_Human1.40920667
60IKZF1_21737484_ChIP-ChIP_HCT116_Human1.38810819
61GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.32101555
62ELK3_25401928_ChIP-Seq_HUVEC_Human1.31442273
63HOXB4_20404135_ChIP-ChIP_EML_Mouse1.28832445
64PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.26907789
65GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.25937411
66MAF_26560356_Chip-Seq_TH2_Human1.24301582
67GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.23039007
68TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.22348950
69CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.20849452
70SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.17922593
71KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.17103218
72NOTCH1_21737748_ChIP-Seq_TLL_Human1.16733568
73THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.16707972
74* GATA1_19941826_ChIP-Seq_K562_Human1.16123964
75* BCOR_27268052_Chip-Seq_Bcells_Human1.15374919
76TFEB_21752829_ChIP-Seq_HELA_Human1.14848200
77CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.14309874
78GATA3_27048872_Chip-Seq_THYMUS_Human1.12756331
79KDM2B_26808549_Chip-Seq_JURKAT_Human1.10459945
80* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.10198323
81FOXM1_23109430_ChIP-Seq_U2OS_Human1.09818111
82GATA1_19941827_ChIP-Seq_MEL_Mouse1.09724496
83PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.07659162
84VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.07519873
85CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.07276529
86KDM2B_26808549_Chip-Seq_SUP-B15_Human1.05799824
87STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.05114906
88TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.04490543
89TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.03115463
90KDM2B_26808549_Chip-Seq_DND41_Human1.00037446
91* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99967757
92PU.1_20513432_ChIP-Seq_Bcells_Mouse0.99885821
93* CTCF_27219007_Chip-Seq_ERYTHROID_Human0.98035870
94KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.97903272
95ELF1_20517297_ChIP-Seq_JURKAT_Human0.97800247
96GATA3_26560356_Chip-Seq_TH2_Human0.97506581
97SMAD_19615063_ChIP-ChIP_OVARY_Human0.96529921
98VDR_24787735_ChIP-Seq_THP-1_Human0.94853854
99GATA2_21666600_ChIP-Seq_HMVEC_Human0.94009014
100PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.93731691
101NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.93085521
102NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.93082511
103* LXR_22292898_ChIP-Seq_THP-1_Human0.91973695
104SA1_27219007_Chip-Seq_ERYTHROID_Human0.91701162
105* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.90612446
106* SPI1_20517297_ChIP-Seq_HL60_Human0.89145712
107VDR_23849224_ChIP-Seq_CD4+_Human0.89018445
108E2F4_17652178_ChIP-ChIP_JURKAT_Human0.88191212
109* RACK7_27058665_Chip-Seq_MCF-7_Human0.87892311
110MYC_18555785_ChIP-Seq_MESCs_Mouse0.86119580
111VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.83874250
112CIITA_25753668_ChIP-Seq_RAJI_Human0.83409045
113* BCL6_27268052_Chip-Seq_Bcells_Human0.82804130
114MYC_18358816_ChIP-ChIP_MESCs_Mouse0.77606050
115NCOR1_26117541_ChIP-Seq_K562_Human0.75049110
116* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.74978370
117CTCF_26484167_Chip-Seq_Bcells_Mouse0.74464242

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003303_peritoneal_inflammation4.20153392
2MP0001835_abnormal_antigen_presentation4.10648332
3MP0003436_decreased_susceptibility_to3.78969615
4MP0009785_altered_susceptibility_to3.22617902
5MP0002419_abnormal_innate_immunity3.16462128
6MP0005058_abnormal_lysosome_morphology2.93033419
7MP0000685_abnormal_immune_system2.87270075
8MP0005025_abnormal_response_to2.86800832
9MP0005000_abnormal_immune_tolerance2.83924327
10MP0002148_abnormal_hypersensitivity_rea2.81453238
11MP0002452_abnormal_antigen_presenting2.67161905
12MP0001790_abnormal_immune_system2.65042287
13MP0005387_immune_system_phenotype2.65042287
14MP0001800_abnormal_humoral_immune2.64281746
15MP0005464_abnormal_platelet_physiology2.53710310
16MP0002723_abnormal_immune_serum2.45502970
17MP0003172_abnormal_lysosome_physiology2.42440058
18MP0005671_abnormal_response_to2.41263296
19MP0002420_abnormal_adaptive_immunity2.36970978
20MP0001819_abnormal_immune_cell2.36761166
21MP0006082_CNS_inflammation2.25787981
22MP0003724_increased_susceptibility_to2.20361959
23MP0002396_abnormal_hematopoietic_system2.19544271
24MP0009278_abnormal_bone_marrow2.18039954
25MP0001853_heart_inflammation2.16282588
26MP0004510_myositis2.15113111
27MP0002405_respiratory_system_inflammati2.01662301
28MP0001545_abnormal_hematopoietic_system2.00180136
29MP0005397_hematopoietic_system_phenotyp2.00180136
30MP0009840_abnormal_foam_cell1.99470159
31MP0001533_abnormal_skeleton_physiology1.99418843
32MP0002398_abnormal_bone_marrow1.93627884
33MP0003191_abnormal_cellular_cholesterol1.89248924
34MP0000716_abnormal_immune_system1.88955217
35MP0003300_gastrointestinal_ulcer1.88861770
36MP0001845_abnormal_inflammatory_respons1.85063606
37MP0000689_abnormal_spleen_morphology1.77190274
38MP0005174_abnormal_tail_pigmentation1.75526742
39MP0000343_altered_response_to1.75111455
40MP0003183_abnormal_peptide_metabolism1.72369580
41MP0000465_gastrointestinal_hemorrhage1.71988735
42MP0009333_abnormal_splenocyte_physiolog1.70572420
43MP0010155_abnormal_intestine_physiology1.67490673
44MP0002429_abnormal_blood_cell1.63130345
45MP0004808_abnormal_hematopoietic_stem1.62701721
46MP0008469_abnormal_protein_level1.62337728
47MP0002166_altered_tumor_susceptibility1.60834794
48MP0004947_skin_inflammation1.60179650
49MP0002722_abnormal_immune_system1.59763177
50MP0005451_abnormal_body_composition1.56946546
51MP0003075_altered_response_to1.49567501
52MP0002132_abnormal_respiratory_system1.43195317
53MP0000490_abnormal_crypts_of1.41157405
54MP0003448_altered_tumor_morphology1.39808369
55MP0001873_stomach_inflammation1.38005080
56MP0003806_abnormal_nucleotide_metabolis1.36516865
57MP0002006_tumorigenesis1.34486299
58MP0000858_altered_metastatic_potential1.30337827
59MP0009764_decreased_sensitivity_to1.30174637
60MP0005310_abnormal_salivary_gland1.26352691
61MP0001851_eye_inflammation1.25438399
62MP0010307_abnormal_tumor_latency1.22419557
63MP0002933_joint_inflammation1.15798046
64MP0003763_abnormal_thymus_physiology1.13698345
65MP0008004_abnormal_stomach_pH1.09759320
66MP0003656_abnormal_erythrocyte_physiolo1.08305911
67MP0003828_pulmonary_edema1.06956670
68MP0005166_decreased_susceptibility_to0.98539767
69MP0000604_amyloidosis0.98080229
70MP0002998_abnormal_bone_remodeling0.97980261
71MP0000015_abnormal_ear_pigmentation0.97976094
72MP0003866_abnormal_defecation0.97212086
73MP0000703_abnormal_thymus_morphology0.95117417
74MP0009763_increased_sensitivity_to0.88139049
75MP0005390_skeleton_phenotype0.87032166
76MP0005076_abnormal_cell_differentiation0.85327708
77MP0001663_abnormal_digestive_system0.84859184
78MP0004381_abnormal_hair_follicle0.83656172
79MP0002019_abnormal_tumor_incidence0.83118093
80MP0005167_abnormal_blood-brain_barrier0.80504079
81MP0003693_abnormal_embryo_hatching0.79792143
82MP0010352_gastrointestinal_tract_polyps0.78191516
83MP0005075_abnormal_melanosome_morpholog0.77587261
84MP0003566_abnormal_cell_adhesion0.76817676
85MP0000249_abnormal_blood_vessel0.76532624
86MP0002095_abnormal_skin_pigmentation0.74736584
87MP0005164_abnormal_response_to0.74317495
88MP0003186_abnormal_redox_activity0.73140830
89MP0005023_abnormal_wound_healing0.72112524
90MP0000371_diluted_coat_color0.71391225
91MP0009765_abnormal_xenobiotic_induced0.70679043
92MP0003453_abnormal_keratinocyte_physiol0.70405496
93MP0000920_abnormal_myelination0.67867641
94MP0000569_abnormal_digit_pigmentation0.67598422
95MP0002254_reproductive_system_inflammat0.67124622
96MP0008874_decreased_physiological_sensi0.67104477
97MP0008260_abnormal_autophagy0.65849802
98MP0008873_increased_physiological_sensi0.65667438
99MP0003690_abnormal_glial_cell0.63527135
100MP0003795_abnormal_bone_structure0.62851665
101MP0002138_abnormal_hepatobiliary_system0.59537967
102MP0003329_amyloid_beta_deposits0.59288553
103MP0005083_abnormal_biliary_tract0.58756360
104MP0000313_abnormal_cell_death0.57132367
105MP0004883_abnormal_blood_vessel0.56900874
106MP0004782_abnormal_surfactant_physiolog0.56443425
107MP0000598_abnormal_liver_morphology0.55587437
108MP0001986_abnormal_taste_sensitivity0.54647347
109MP0003045_fibrosis0.54597404
110MP0008007_abnormal_cellular_replicative0.53857551
111MP0003091_abnormal_cell_migration0.53433328
112MP0002277_abnormal_respiratory_mucosa0.52997252
113MP0000609_abnormal_liver_physiology0.52320334
114MP0002136_abnormal_kidney_physiology0.51785542
115MP0004858_abnormal_nervous_system0.50059164
116MP0002332_abnormal_exercise_endurance0.49741354
117MP0005319_abnormal_enzyme/_coenzyme0.49219289
118MP0005381_digestive/alimentary_phenotyp0.48281743
119MP0001542_abnormal_bone_strength0.47549345

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)7.01478033
2Recurrent bacterial skin infections (HP:0005406)6.24391485
3Eczematoid dermatitis (HP:0000976)6.13342732
4Recurrent gram-negative bacterial infections (HP:0005420)5.27892003
5Elevated erythrocyte sedimentation rate (HP:0003565)4.88202371
6Abnormality of macrophages (HP:0004311)4.86541017
7Myositis (HP:0100614)4.60830175
8Mediastinal lymphadenopathy (HP:0100721)4.26458337
9Chronic obstructive pulmonary disease (HP:0006510)4.18301405
10Obstructive lung disease (HP:0006536)4.18301405
11Vacuolated lymphocytes (HP:0001922)4.17163919
12Increased cerebral lipofuscin (HP:0011813)4.16447408
13Systemic lupus erythematosus (HP:0002725)4.14954238
14Recurrent skin infections (HP:0001581)3.97371332
15Chronic otitis media (HP:0000389)3.81291556
16Recurrent fungal infections (HP:0002841)3.74029828
17Increased neuronal autofluorescent lipopigment (HP:0002074)3.69844404
18Cellulitis (HP:0100658)3.67713768
19Dysostosis multiplex (HP:0000943)3.51950993
20Orchitis (HP:0100796)3.45545601
21Gastrointestinal infarctions (HP:0005244)3.41690582
22Thrombocytosis (HP:0001894)3.39999766
23IgM deficiency (HP:0002850)3.35335720
24Gingivitis (HP:0000230)3.32942822
25Recurrent viral infections (HP:0004429)3.32722134
26Meningitis (HP:0001287)3.28557987
27Stomatitis (HP:0010280)3.22821024
28Interstitial pulmonary disease (HP:0006530)3.21432428
29Abnormality of glycolipid metabolism (HP:0010969)3.19540495
30Abnormality of liposaccharide metabolism (HP:0010968)3.19540495
31Abnormality of glycosphingolipid metabolism (HP:0004343)3.19540495
32Petechiae (HP:0000967)3.18976477
33Amyloidosis (HP:0011034)3.05938754
34Hypochromic microcytic anemia (HP:0004840)3.04083938
35Vasculitis (HP:0002633)3.00650228
36Glomerulonephritis (HP:0000099)2.95616465
37Mucopolysacchariduria (HP:0008155)2.95262834
38Urinary glycosaminoglycan excretion (HP:0003541)2.95262834
39Keratoconjunctivitis (HP:0001096)2.92365848
40Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.87232483
41Urticaria (HP:0001025)2.86703957
42Episodic fever (HP:0001954)2.86556777
43Retrobulbar optic neuritis (HP:0100654)2.83223716
44Optic neuritis (HP:0100653)2.83223716
45Spontaneous hematomas (HP:0007420)2.81030502
46Autoimmune thrombocytopenia (HP:0001973)2.80066422
47Inflammation of the large intestine (HP:0002037)2.78098854
48Disinhibition (HP:0000734)2.74891001
49Loss of speech (HP:0002371)2.74170667
50Hypochromic anemia (HP:0001931)2.73793714
51Abnormality of mucopolysaccharide metabolism (HP:0011020)2.73312257
52Abnormality of polysaccharide metabolism (HP:0011012)2.73312257
53Abnormality of glycosaminoglycan metabolism (HP:0004371)2.73312257
54Gastrointestinal inflammation (HP:0004386)2.71128631
55Colitis (HP:0002583)2.67836917
56Recurrent cutaneous fungal infections (HP:0011370)2.67784495
57Chronic mucocutaneous candidiasis (HP:0002728)2.67784495
58Periodontitis (HP:0000704)2.65237449
59Agnosia (HP:0010524)2.65152137
60Thoracic kyphosis (HP:0002942)2.63818374
61Pustule (HP:0200039)2.61298814
62Nasal polyposis (HP:0100582)2.60631173
63Osteomyelitis (HP:0002754)2.58334595
64Hematochezia (HP:0002573)2.56627683
65Abnormality of the nasal mucosa (HP:0000433)2.53680090
66Abnormal delayed hypersensitivity skin test (HP:0002963)2.49837624
67Axonal loss (HP:0003447)2.48510097
68Prolonged bleeding time (HP:0003010)2.48199189
69Basal ganglia calcification (HP:0002135)2.47835298
70Pulmonary embolism (HP:0002204)2.47404906
71Epistaxis (HP:0000421)2.45998703
72Anorexia (HP:0002039)2.43482458
73Hepatosplenomegaly (HP:0001433)2.42786126
74Leukocytosis (HP:0001974)2.41346483
75Pulmonary infiltrates (HP:0002113)2.35763959
76Recurrent pneumonia (HP:0006532)2.35248783
77Recurrent bronchitis (HP:0002837)2.35157202
78Chest pain (HP:0100749)2.34245982
79T lymphocytopenia (HP:0005403)2.33939174
80Increased IgM level (HP:0003496)2.33404502
81Abnormality of T cell physiology (HP:0011840)2.31810891
82Abnormal platelet function (HP:0011869)2.29800934
83Impaired platelet aggregation (HP:0003540)2.29800934
84Abnormality of iron homeostasis (HP:0011031)2.27242771
85Increased IgE level (HP:0003212)2.26937383
86Arterial thrombosis (HP:0004420)2.26138942
87Gingival bleeding (HP:0000225)2.24406429
88Mutism (HP:0002300)2.22668884
89Recurrent lower respiratory tract infections (HP:0002783)2.20255539
90Abnormality of T cell number (HP:0011839)2.20018338
91Premature loss of primary teeth (HP:0006323)2.19706683
92Hemoptysis (HP:0002105)2.19692197
93Panhypogammaglobulinemia (HP:0003139)2.18549199
94Peritonitis (HP:0002586)2.16923646
95Microcytic anemia (HP:0001935)2.16599044
96Abnormality of the thoracic spine (HP:0100711)2.16539373
97J-shaped sella turcica (HP:0002680)2.14949383
98Abnormality of the pleura (HP:0002103)2.13940764
99Hypergammaglobulinemia (HP:0010702)2.13025486
100Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.10688171
101Gangrene (HP:0100758)2.10453710
102Abnormality of the prostate (HP:0008775)2.09654370
103Albinism (HP:0001022)2.08491736
104Abnormality of the lumbar spine (HP:0100712)2.05339366
105Skin ulcer (HP:0200042)2.05134357
106Abnormality of T cells (HP:0002843)2.02529667
107Upper motor neuron abnormality (HP:0002127)2.01230039
108Polyneuropathy (HP:0001271)2.00919397
109Reduced antithrombin III activity (HP:0001976)2.00109556
110Lymphopenia (HP:0001888)1.98467305
111Sepsis (HP:0100806)1.98249398
112Glomerulopathy (HP:0100820)1.97694681
113Abnormality of cells of the lymphoid lineage (HP:0012140)1.96722126
114Eosinophilia (HP:0001880)1.94540688
115Poor head control (HP:0002421)1.93926404
116Malnutrition (HP:0004395)1.93702863
117Abnormality of the peritoneum (HP:0002585)1.92742771
118Gastrointestinal stroma tumor (HP:0100723)1.91708326
119Polycythemia (HP:0001901)1.91438355
120Acne (HP:0001061)1.90951503
121Agammaglobulinemia (HP:0004432)1.90636841
122Purpura (HP:0000979)1.90202177
123Restrictive lung disease (HP:0002091)1.88800789
124Granulocytopenia (HP:0001913)1.88403889
125Increased serum ferritin (HP:0003281)1.87554181
126Encephalitis (HP:0002383)1.85601905
127Keratoconjunctivitis sicca (HP:0001097)1.85205220

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K13.67687265
2BLK3.43897494
3IRAK43.41251488
4KIT3.24407046
5RIPK42.90219573
6ERN12.88041962
7TBK12.87675387
8TYK22.75144580
9CSF1R2.46213679
10TNK22.38352512
11IRAK32.36321406
12PRPF4B2.33902169
13FES2.21988409
14TAOK12.13909666
15BTK2.13034623
16MAP3K141.93646918
17TGFBR21.87796464
18TEC1.84374403
19PIM21.82760414
20IKBKE1.81160420
21MAP2K31.78408826
22ZAP701.76885390
23IKBKB1.68750375
24SYK1.66862157
25FLT31.65393685
26NME21.57356221
27JAK31.57124508
28EPHB11.54871436
29CSK1.46234051
30TAOK31.45699071
31HCK1.41849194
32SIK31.40943624
33TAOK21.40358783
34STK101.38741270
35PKN21.34507103
36MATK1.34162710
37RPS6KA41.30615419
38LRRK21.27845338
39TRIB31.27193666
40SCYL21.26391882
41LYN1.24667444
42CLK11.17960624
43EEF2K1.10159535
44GRK61.10141809
45JAK11.09952755
46PAK41.09228892
47LCK1.08354507
48TXK1.07518000
49KSR21.03142569
50MARK21.02427298
51MAP3K111.02209847
52TESK21.01799133
53PIM11.00531190
54CAMKK21.00265443
55FGR0.99096220
56GRK70.97968690
57EIF2AK30.97680204
58PRKD20.95052512
59KDR0.91727902
60MAP3K130.91717457
61CDC42BPA0.89714591
62MAP3K100.88588044
63IRAK20.84305534
64SMG10.82830347
65JAK20.82670269
66PDK10.79908578
67PDPK10.79325256
68IRAK10.79046922
69BMPR20.72393963
70MAPK40.71316082
71CHUK0.71019501
72WEE10.69484123
73ACVR1B0.69019659
74MAPK120.64503730
75ITK0.64496402
76ABL20.63356174
77CAMK1D0.63180427
78SIK10.62280232
79FYN0.61463844
80TGFBR10.60413519
81RPS6KA60.60091044
82PTK60.58169269
83NEK90.58044094
84MAP3K30.57039667
85TRPM70.57031710
86STK160.56643305
87MAPK70.55954852
88SIK20.54895820
89MAP3K120.54567427
90PRKG20.54455954
91DAPK20.52130549
92MAP3K70.51815530
93MARK30.50887153
94ABL10.50242953
95RPS6KL10.49841636
96RPS6KC10.49841636
97NEK20.49687409
98MAP3K80.49154897
99PRKCD0.49106992
100HIPK20.48388652
101MAPKAPK20.48078838
102MAP2K60.47689527
103MAP2K40.46048168
104MOS0.46033030
105DYRK1B0.44762221
106EIF2AK20.44212153
107STK40.44069968
108EGFR0.42618743
109PRKCQ0.42428805
110CDK40.42371473
111TTN0.42217290
112CAMKK10.40415765
113STK110.39716076
114CDK60.38995262
115VRK10.38972032
116CDK190.38839230
117ALK0.37261373
118MAP3K10.36861953
119RAF10.35458252
120SGK30.34639120
121MAP3K60.34540730
122MAP3K50.34370499
123NLK0.34005850
124EIF2AK10.33495170
125TLK10.33445225
126PTK2B0.31790921
127YES10.31628221
128MAP3K20.31419316
129RIPK10.31330134
130RPS6KA20.30655134
131TESK10.29846494
132EPHA30.29689530
133DAPK10.29560687
134DYRK30.29086539
135RET0.28416347

Predicted pathways (KEGG)

RankGene SetZ-score
1Leishmaniasis_Homo sapiens_hsa051403.54839112
2Staphylococcus aureus infection_Homo sapiens_hsa051502.99473132
3Other glycan degradation_Homo sapiens_hsa005112.59650014
4Glycosaminoglycan degradation_Homo sapiens_hsa005312.58052556
5* Osteoclast differentiation_Homo sapiens_hsa043802.46387669
6B cell receptor signaling pathway_Homo sapiens_hsa046622.43565422
7Toll-like receptor signaling pathway_Homo sapiens_hsa046202.39780457
8Pertussis_Homo sapiens_hsa051332.27996988
9Autoimmune thyroid disease_Homo sapiens_hsa053202.18631613
10Lysosome_Homo sapiens_hsa041422.15688084
11NF-kappa B signaling pathway_Homo sapiens_hsa040642.14459412
12Legionellosis_Homo sapiens_hsa051342.10347696
13Tuberculosis_Homo sapiens_hsa051522.07421669
14Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.96524836
15Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.95479157
16Antigen processing and presentation_Homo sapiens_hsa046121.91171697
17RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.85737448
18Measles_Homo sapiens_hsa051621.83359786
19Malaria_Homo sapiens_hsa051441.82326232
20Type I diabetes mellitus_Homo sapiens_hsa049401.80468736
21NOD-like receptor signaling pathway_Homo sapiens_hsa046211.73063236
22Shigellosis_Homo sapiens_hsa051311.71529005
23DNA replication_Homo sapiens_hsa030301.71036787
24Hematopoietic cell lineage_Homo sapiens_hsa046401.60539452
25Herpes simplex infection_Homo sapiens_hsa051681.59939950
26Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.59885274
27Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.55667271
28Toxoplasmosis_Homo sapiens_hsa051451.54426530
29Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.53949266
30Asthma_Homo sapiens_hsa053101.53588931
31Intestinal immune network for IgA production_Homo sapiens_hsa046721.52900274
32Influenza A_Homo sapiens_hsa051641.52525173
33Primary immunodeficiency_Homo sapiens_hsa053401.48289221
34Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.47059789
35Salmonella infection_Homo sapiens_hsa051321.45794055
36Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.45624843
37Phagosome_Homo sapiens_hsa041451.41421411
38Apoptosis_Homo sapiens_hsa042101.38805532
39TNF signaling pathway_Homo sapiens_hsa046681.36698961
40Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.33647159
41Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.29652199
42Jak-STAT signaling pathway_Homo sapiens_hsa046301.29022041
43Leukocyte transendothelial migration_Homo sapiens_hsa046701.26032570
44Ribosome_Homo sapiens_hsa030101.25930231
45Chemokine signaling pathway_Homo sapiens_hsa040621.25148831
46Hepatitis B_Homo sapiens_hsa051611.20352254
47Allograft rejection_Homo sapiens_hsa053301.07929040
48Rheumatoid arthritis_Homo sapiens_hsa053231.07674920
49Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.07577869
50* Acute myeloid leukemia_Homo sapiens_hsa052211.02116005
51Platelet activation_Homo sapiens_hsa046110.98063669
52Pentose phosphate pathway_Homo sapiens_hsa000300.96962194
53Caffeine metabolism_Homo sapiens_hsa002320.94820298
54Chronic myeloid leukemia_Homo sapiens_hsa052200.94187631
55Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.94073106
56Base excision repair_Homo sapiens_hsa034100.90814295
57Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.90070283
58Graft-versus-host disease_Homo sapiens_hsa053320.89484683
59Neurotrophin signaling pathway_Homo sapiens_hsa047220.85496483
60Hepatitis C_Homo sapiens_hsa051600.85447913
61African trypanosomiasis_Homo sapiens_hsa051430.82639965
62Pancreatic cancer_Homo sapiens_hsa052120.81796914
63* Transcriptional misregulation in cancer_Homo sapiens_hsa052020.80287627
64Mismatch repair_Homo sapiens_hsa034300.77993106
65* Epstein-Barr virus infection_Homo sapiens_hsa051690.77003071
66AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.76578658
67Viral myocarditis_Homo sapiens_hsa054160.75574334
68Collecting duct acid secretion_Homo sapiens_hsa049660.70228324
69Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.70029116
70T cell receptor signaling pathway_Homo sapiens_hsa046600.67291785
71Viral carcinogenesis_Homo sapiens_hsa052030.66882308
72Renal cell carcinoma_Homo sapiens_hsa052110.65490213
73Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.65006690
74N-Glycan biosynthesis_Homo sapiens_hsa005100.61625919
75Amoebiasis_Homo sapiens_hsa051460.60266302
76VEGF signaling pathway_Homo sapiens_hsa043700.59814467
77Notch signaling pathway_Homo sapiens_hsa043300.59621841
78Phospholipase D signaling pathway_Homo sapiens_hsa040720.59323312
79Systemic lupus erythematosus_Homo sapiens_hsa053220.58568984
80Homologous recombination_Homo sapiens_hsa034400.57425622
81Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.56852753
82Renin-angiotensin system_Homo sapiens_hsa046140.55000475
83Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.54655061
84Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.53241381
85Complement and coagulation cascades_Homo sapiens_hsa046100.53225191
86HIF-1 signaling pathway_Homo sapiens_hsa040660.51976095
87Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.51630487
88Bladder cancer_Homo sapiens_hsa052190.50776993
89GnRH signaling pathway_Homo sapiens_hsa049120.49890050
90Non-small cell lung cancer_Homo sapiens_hsa052230.45485652
91Sphingolipid signaling pathway_Homo sapiens_hsa040710.45123025
92Small cell lung cancer_Homo sapiens_hsa052220.44872847
93Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.44620947
94Proteasome_Homo sapiens_hsa030500.43847933
95Prion diseases_Homo sapiens_hsa050200.43777047
96FoxO signaling pathway_Homo sapiens_hsa040680.43341438
97Adipocytokine signaling pathway_Homo sapiens_hsa049200.43228172
98Prolactin signaling pathway_Homo sapiens_hsa049170.41069021
99Type II diabetes mellitus_Homo sapiens_hsa049300.40310554
100Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.39590059
101Endocytosis_Homo sapiens_hsa041440.39334613
102Choline metabolism in cancer_Homo sapiens_hsa052310.38372002
103p53 signaling pathway_Homo sapiens_hsa041150.37920927
104Sulfur relay system_Homo sapiens_hsa041220.37512534
105MAPK signaling pathway_Homo sapiens_hsa040100.37004524
106Insulin resistance_Homo sapiens_hsa049310.36159762
107Pentose and glucuronate interconversions_Homo sapiens_hsa000400.35586928
108Galactose metabolism_Homo sapiens_hsa000520.35294936
109mTOR signaling pathway_Homo sapiens_hsa041500.35002416
110Colorectal cancer_Homo sapiens_hsa052100.34752549
111Endometrial cancer_Homo sapiens_hsa052130.34701639
112Pyrimidine metabolism_Homo sapiens_hsa002400.33909102
113Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.33295666
114Glycerophospholipid metabolism_Homo sapiens_hsa005640.32824566
115SNARE interactions in vesicular transport_Homo sapiens_hsa041300.32606404
116Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.32142171
117* HTLV-I infection_Homo sapiens_hsa051660.32025978
118Rap1 signaling pathway_Homo sapiens_hsa040150.31745670
119Non-homologous end-joining_Homo sapiens_hsa034500.31402456
120Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.31246816
121Phosphatidylinositol signaling system_Homo sapiens_hsa040700.30154640
122Carbohydrate digestion and absorption_Homo sapiens_hsa049730.29178760

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