CSF3R

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





Description: The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cellular extravasation (GO:0045123)6.19097754
2neutrophil mediated immunity (GO:0002446)6.04823898
3response to peptidoglycan (GO:0032494)5.86709358
4leukocyte aggregation (GO:0070486)5.70204208
5positive regulation by symbiont of host defense response (GO:0052509)5.67737243
6modulation by symbiont of host defense response (GO:0052031)5.67737243
7modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.67737243
8modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.67737243
9positive regulation by organism of defense response of other organism involved in symbiotic interact5.67737243
10modulation by symbiont of host immune response (GO:0052553)5.67737243
11macrophage differentiation (GO:0030225)5.50100896
12neutrophil activation involved in immune response (GO:0002283)5.45117696
13respiratory burst (GO:0045730)5.39342275
14regulation of B cell receptor signaling pathway (GO:0050855)5.33498593
15leukocyte migration involved in inflammatory response (GO:0002523)5.33183726
16defense response to fungus (GO:0050832)5.09684425
17response to host immune response (GO:0052572)5.01545489
18response to immune response of other organism involved in symbiotic interaction (GO:0052564)5.01545489
19detection of molecule of bacterial origin (GO:0032490)4.94928618
20macrophage activation involved in immune response (GO:0002281)4.87896095
21detection of external biotic stimulus (GO:0098581)4.86800451
22regulation of interferon-beta biosynthetic process (GO:0045357)4.85948034
23neutrophil activation (GO:0042119)4.80375480
24response to fungus (GO:0009620)4.75012602
25response to defenses of other organism involved in symbiotic interaction (GO:0052173)4.74008255
26response to host (GO:0075136)4.74008255
27response to host defenses (GO:0052200)4.74008255
28positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)4.72685291
29negative regulation of lymphocyte mediated immunity (GO:0002707)4.66914785
30response to interleukin-15 (GO:0070672)4.59948660
31myeloid leukocyte mediated immunity (GO:0002444)4.56548511
32negative regulation of phagocytosis (GO:0050765)4.54349875
33disruption of cells of other organism involved in symbiotic interaction (GO:0051818)4.53782183
34killing of cells in other organism involved in symbiotic interaction (GO:0051883)4.53782183
35immunoglobulin mediated immune response (GO:0016064)4.47560306
36negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.44124413
37negative regulation of cell killing (GO:0031342)4.44124413
38positive regulation of B cell differentiation (GO:0045579)4.43261827
39granulocyte activation (GO:0036230)4.42082124
40negative regulation of granulocyte differentiation (GO:0030853)4.41890532
41negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)4.26278626
42detection of biotic stimulus (GO:0009595)4.24495426
43microglial cell activation (GO:0001774)4.21316487
44regulation of mast cell activation (GO:0033003)4.19511078
45cellular response to interleukin-15 (GO:0071350)4.16391292
46negative regulation of interleukin-12 production (GO:0032695)4.11972616
47regulation of mast cell degranulation (GO:0043304)4.11634258
48antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.09965393
49positive regulation of mast cell activation (GO:0033005)4.08269179
50positive regulation of gamma-delta T cell activation (GO:0046645)4.06465875
51negative regulation of leukocyte mediated immunity (GO:0002704)4.05637377
52regulation of B cell differentiation (GO:0045577)4.02418172
53regulation of gamma-delta T cell activation (GO:0046643)3.99722519
54production of molecular mediator involved in inflammatory response (GO:0002532)3.92816908
55regulation of myeloid leukocyte mediated immunity (GO:0002886)3.91764815
56positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.91566626
57regulation of mast cell activation involved in immune response (GO:0033006)3.90753136
58negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)3.84835409
59detection of other organism (GO:0098543)3.79104959
60myeloid cell activation involved in immune response (GO:0002275)3.78917071
61regulation of leukocyte degranulation (GO:0043300)3.76724607
62* neutrophil chemotaxis (GO:0030593)3.65622118
63positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.63499599
64type I interferon signaling pathway (GO:0060337)3.60910310
65cellular response to type I interferon (GO:0071357)3.60910310
66response to type I interferon (GO:0034340)3.58333175
67negative regulation of T cell mediated immunity (GO:0002710)3.55326033
68* neutrophil migration (GO:1990266)3.54596567
69negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.53449358
70antigen processing and presentation via MHC class Ib (GO:0002475)3.53151249
71positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.52984252
72regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.52971270
73response to muramyl dipeptide (GO:0032495)3.52329603
74regulation of gamma-delta T cell differentiation (GO:0045586)3.52091660
75positive regulation of antigen processing and presentation (GO:0002579)3.51487965
76antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.50657335
77antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.50657335
78detection of bacterium (GO:0016045)3.49787620
79negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.48397399
80negative regulation of T-helper cell differentiation (GO:0045623)3.48397399
81reactive oxygen species biosynthetic process (GO:1903409)3.47217121
82regulation of T-helper 2 cell differentiation (GO:0045628)3.42081307
83negative regulation of interleukin-6 production (GO:0032715)3.40159936
84positive regulation of mast cell degranulation (GO:0043306)3.36721368
85positive regulation of mast cell activation involved in immune response (GO:0033008)3.36721368
86regulation of T cell tolerance induction (GO:0002664)3.36271800
87macrophage activation (GO:0042116)3.35448532
88defense response to protozoan (GO:0042832)3.34661603
89leukotriene metabolic process (GO:0006691)3.33374564
90B cell mediated immunity (GO:0019724)3.31220209
91regulation of tolerance induction (GO:0002643)3.29096341
92positive regulation of T cell mediated cytotoxicity (GO:0001916)3.28769834
93positive regulation of toll-like receptor signaling pathway (GO:0034123)3.27847696
94superoxide anion generation (GO:0042554)3.27518302
95killing of cells of other organism (GO:0031640)3.26937556
96disruption of cells of other organism (GO:0044364)3.26937556
97Arp2/3 complex-mediated actin nucleation (GO:0034314)3.23757065
98regulation of T cell mediated cytotoxicity (GO:0001914)3.23427275
99positive regulation of interferon-alpha production (GO:0032727)3.20086015
100regulation of nitric-oxide synthase biosynthetic process (GO:0051769)3.19731714
101leukocyte mediated cytotoxicity (GO:0001909)3.19286988
102negative regulation of type 2 immune response (GO:0002829)3.19025245
103B cell receptor signaling pathway (GO:0050853)3.18876661
104response to protozoan (GO:0001562)3.15823881
105regulation of regulated secretory pathway (GO:1903305)3.15377724
106leukocyte degranulation (GO:0043299)3.12886934
107hydrogen peroxide biosynthetic process (GO:0050665)3.09495634
108negative regulation of alpha-beta T cell activation (GO:0046636)3.08391314
109leukocyte cell-cell adhesion (GO:0007159)3.07980680
110dendritic cell chemotaxis (GO:0002407)3.04812179
111regulation of natural killer cell mediated immunity (GO:0002715)3.03755263
112regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.03755263
113interferon-gamma-mediated signaling pathway (GO:0060333)3.03701141
114germinal center formation (GO:0002467)3.03698139
115negative regulation of erythrocyte differentiation (GO:0045647)3.02870742
116negative regulation of innate immune response (GO:0045824)3.02375534
117negative regulation of growth of symbiont involved in interaction with host (GO:0044146)3.01841499
118modulation of growth of symbiont involved in interaction with host (GO:0044144)3.01841499
119regulation of growth of symbiont in host (GO:0044126)3.01841499
120negative regulation of growth of symbiont in host (GO:0044130)3.01841499
121regulation of interferon-alpha production (GO:0032647)3.00891053
122regulation of dendritic cell antigen processing and presentation (GO:0002604)3.00890161
123myeloid leukocyte activation (GO:0002274)3.00284313
124* granulocyte migration (GO:0097530)3.00214470
125* granulocyte chemotaxis (GO:0071621)3.00137845
126negative regulation of cytokine production involved in immune response (GO:0002719)2.97966969
127leukotriene biosynthetic process (GO:0019370)2.96928946
128adaptation of signaling pathway (GO:0023058)2.96233267
129negative regulation of mast cell activation (GO:0033004)2.95745529
130dendritic cell migration (GO:0036336)2.94579916
131negative regulation of adaptive immune response based on somatic recombination of immune receptors b2.94235018
132lipopolysaccharide-mediated signaling pathway (GO:0031663)2.92395199
133positive regulation of chemokine secretion (GO:0090197)2.91710374
134negative regulation of glycoprotein biosynthetic process (GO:0010561)2.91035909
135regulation of antigen processing and presentation (GO:0002577)2.90247891
136antigen processing and presentation of endogenous antigen (GO:0019883)2.89946599
137mature B cell differentiation (GO:0002335)2.87182409
138regulation of interleukin-8 biosynthetic process (GO:0045414)2.85108927
139regulation of phagocytosis (GO:0050764)2.84256522

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* IRF8_21731497_ChIP-ChIP_J774_Mouse4.82521661
2* MECOM_23826213_ChIP-Seq_KASUMI_Mouse4.30058485
3MYB_21317192_ChIP-Seq_ERMYB_Mouse4.23883817
4BP1_19119308_ChIP-ChIP_Hs578T_Human4.23680311
5SCL_19346495_ChIP-Seq_HPC-7_Human3.87670494
6SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.83164316
7* IRF8_27001747_Chip-Seq_BMDM_Mouse3.74445194
8IRF8_22096565_ChIP-ChIP_GC-B_Human3.66546551
9STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.50890714
10EGR1_19374776_ChIP-ChIP_THP-1_Human3.47601026
11NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.34426422
12RUNX1_20887958_ChIP-Seq_HPC-7_Mouse3.05074512
13NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human3.04064471
14SPI1_23547873_ChIP-Seq_NB4_Human3.01715704
15VDR_21846776_ChIP-Seq_THP-1_Human2.99304960
16BRD4_27068464_Chip-Seq_AML-cells_Mouse2.85123123
17SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.71895101
18SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.54215374
19IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.50356087
20VDR_24763502_ChIP-Seq_THP-1_Human2.43279407
21SPI1_23127762_ChIP-Seq_K562_Human2.40217797
22STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.31493582
23STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.30446729
24RUNX1_22412390_ChIP-Seq_EML_Mouse2.30206647
25E2F7_22180533_ChIP-Seq_HELA_Human2.29605620
26FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.27362545
27Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.23934073
28MEIS1_20887958_ChIP-Seq_HPC-7_Mouse2.23134646
29* FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.14772129
30MYC_22102868_ChIP-Seq_BL_Human2.09739033
31MYB_26560356_Chip-Seq_TH2_Human2.07530748
32LMO2_20887958_ChIP-Seq_HPC-7_Mouse2.04279540
33IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.01894656
34RUNX_20019798_ChIP-Seq_JUKART_Human2.01159614
35FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.96470989
36STAT4_19710469_ChIP-ChIP_TH1__Mouse1.96282163
37MAF_26560356_Chip-Seq_TH1_Human1.95408021
38TCF7_22412390_ChIP-Seq_EML_Mouse1.94983165
39ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.90769598
40* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.84276983
41LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.82941226
42UTX_26944678_Chip-Seq_JUKART_Human1.82630072
43E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.81806858
44* MYB_26560356_Chip-Seq_TH1_Human1.78467044
45PU_27001747_Chip-Seq_BMDM_Mouse1.75464784
46SMAD_19615063_ChIP-ChIP_OVARY_Human1.64825044
47STAT6_21828071_ChIP-Seq_BEAS2B_Human1.63820501
48PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.63559050
49TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.59572711
50NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.58383782
51CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.55684230
52* GATA2_22383799_ChIP-Seq_G1ME_Mouse1.55511630
53NOTCH1_21737748_ChIP-Seq_TLL_Human1.55017501
54GATA1_22383799_ChIP-Seq_G1ME_Mouse1.54864502
55GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.54848768
56* GATA1_19941827_ChIP-Seq_MEL_Mouse1.50329158
57CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.47343246
58RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.42993042
59GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.42940550
60GATA1_22025678_ChIP-Seq_K562_Human1.36539512
61SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.36133954
62VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.34574417
63TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.31633019
64* GATA3_27048872_Chip-Seq_THYMUS_Human1.31285501
65PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.29146803
66KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.28197459
67VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.27096849
68GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.24764171
69* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.24534045
70KDM2B_26808549_Chip-Seq_JURKAT_Human1.23498265
71ELK3_25401928_ChIP-Seq_HUVEC_Human1.23295755
72VDR_24787735_ChIP-Seq_THP-1_Human1.22666878
73THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.21501065
74GATA2_21666600_ChIP-Seq_HMVEC_Human1.21019740
75PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.20327692
76CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.19497608
77MAF_26560356_Chip-Seq_TH2_Human1.18305417
78ERG_20887958_ChIP-Seq_HPC-7_Mouse1.16975211
79IKZF1_21737484_ChIP-ChIP_HCT116_Human1.16030572
80KDM2B_26808549_Chip-Seq_SUP-B15_Human1.14499646
81CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.14302093
82GATA3_26560356_Chip-Seq_TH2_Human1.13700862
83PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.13128995
84NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.12357398
85HOXB4_20404135_ChIP-ChIP_EML_Mouse1.11754608
86STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.11373541
87ELF1_17652178_ChIP-ChIP_JURKAT_Human1.09728485
88TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.07900990
89BCOR_27268052_Chip-Seq_Bcells_Human1.05999223
90EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.05317975
91SPI1_20517297_ChIP-Seq_HL60_Human1.01427863
92* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01155370
93KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.00281380
94KDM2B_26808549_Chip-Seq_DND41_Human1.00114854
95FOXM1_23109430_ChIP-Seq_U2OS_Human0.99843933
96GATA2_19941826_ChIP-Seq_K562_Human0.99777712
97SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.98337042
98GATA1_19941826_ChIP-Seq_K562_Human0.98190083
99CTCF_27219007_Chip-Seq_ERYTHROID_Human0.93880189
100* LXR_22292898_ChIP-Seq_THP-1_Human0.88169679
101SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.86340545
102BCL6_27268052_Chip-Seq_Bcells_Human0.85592314
103* PU.1_20513432_ChIP-Seq_Bcells_Mouse0.84927598
104* SA1_27219007_Chip-Seq_ERYTHROID_Human0.82586853
105RACK7_27058665_Chip-Seq_MCF-7_Human0.80818562
106RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79847153
107SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.78464057
108CIITA_25753668_ChIP-Seq_RAJI_Human0.75440040
109RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.73931301
110FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.73102255
111* ETS1_22383799_ChIP-Seq_G1ME_Mouse0.70572396
112NCOR1_26117541_ChIP-Seq_K562_Human0.70271918

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003436_decreased_susceptibility_to4.09652194
2MP0009278_abnormal_bone_marrow3.82802843
3MP0003303_peritoneal_inflammation3.52860269
4MP0001835_abnormal_antigen_presentation3.26982182
5* MP0002419_abnormal_innate_immunity3.22723677
6MP0009785_altered_susceptibility_to3.13643874
7MP0005464_abnormal_platelet_physiology2.85064611
8MP0003183_abnormal_peptide_metabolism2.73133796
9MP0005025_abnormal_response_to2.67237073
10MP0001545_abnormal_hematopoietic_system2.65909060
11MP0005397_hematopoietic_system_phenotyp2.65909060
12MP0001853_heart_inflammation2.50775537
13MP0003172_abnormal_lysosome_physiology2.49915555
14MP0005058_abnormal_lysosome_morphology2.44332496
15MP0005671_abnormal_response_to2.43348720
16MP0003724_increased_susceptibility_to2.42944687
17MP0005000_abnormal_immune_tolerance2.41050932
18MP0002148_abnormal_hypersensitivity_rea2.39285991
19MP0002452_abnormal_antigen_presenting2.37934417
20MP0001800_abnormal_humoral_immune2.29706818
21MP0001533_abnormal_skeleton_physiology2.22458861
22MP0002723_abnormal_immune_serum2.21718624
23MP0003191_abnormal_cellular_cholesterol2.21679431
24* MP0001819_abnormal_immune_cell2.21415244
25* MP0002420_abnormal_adaptive_immunity2.20905814
26MP0000685_abnormal_immune_system2.17434059
27MP0000465_gastrointestinal_hemorrhage2.16600862
28MP0005167_abnormal_blood-brain_barrier2.15419455
29* MP0002396_abnormal_hematopoietic_system2.13508506
30MP0000343_altered_response_to2.12884854
31MP0003075_altered_response_to2.10614767
32MP0002405_respiratory_system_inflammati2.01138092
33MP0006082_CNS_inflammation1.99019610
34MP0005174_abnormal_tail_pigmentation1.95637994
35MP0005387_immune_system_phenotype1.94572788
36MP0001790_abnormal_immune_system1.94572788
37MP0001845_abnormal_inflammatory_respons1.77704224
38* MP0002398_abnormal_bone_marrow1.77017088
39* MP0000716_abnormal_immune_system1.73995875
40* MP0004808_abnormal_hematopoietic_stem1.72891211
41MP0001851_eye_inflammation1.70723439
42MP0000569_abnormal_digit_pigmentation1.67464351
43MP0000689_abnormal_spleen_morphology1.62123270
44MP0003300_gastrointestinal_ulcer1.59067134
45MP0005451_abnormal_body_composition1.58002851
46MP0004381_abnormal_hair_follicle1.57920605
47MP0000858_altered_metastatic_potential1.57201860
48MP0010155_abnormal_intestine_physiology1.52401428
49MP0009764_decreased_sensitivity_to1.50537239
50MP0002837_dystrophic_cardiac_calcinosis1.50456150
51MP0008469_abnormal_protein_level1.49209648
52* MP0002429_abnormal_blood_cell1.49201744
53MP0002933_joint_inflammation1.47940091
54MP0004883_abnormal_blood_vessel1.45970372
55MP0002722_abnormal_immune_system1.45682837
56MP0004510_myositis1.38130899
57MP0002166_altered_tumor_susceptibility1.35875258
58MP0001873_stomach_inflammation1.35402996
59MP0003828_pulmonary_edema1.34790840
60MP0003279_aneurysm1.32991765
61MP0005023_abnormal_wound_healing1.30005091
62MP0004947_skin_inflammation1.28533705
63MP0009333_abnormal_splenocyte_physiolog1.28319443
64MP0005166_decreased_susceptibility_to1.27750597
65MP0000015_abnormal_ear_pigmentation1.25971229
66MP0009840_abnormal_foam_cell1.24705460
67MP0003448_altered_tumor_morphology1.22870502
68MP0005075_abnormal_melanosome_morpholog1.22211625
69MP0000490_abnormal_crypts_of1.16737119
70MP0005164_abnormal_response_to1.07245080
71MP0002277_abnormal_respiratory_mucosa1.02308273
72MP0002006_tumorigenesis0.98868027
73MP0005390_skeleton_phenotype0.98564872
74MP0001986_abnormal_taste_sensitivity0.96769477
75MP0003878_abnormal_ear_physiology0.96680337
76MP0005377_hearing/vestibular/ear_phenot0.96680337
77MP0000703_abnormal_thymus_morphology0.94735500
78MP0003866_abnormal_defecation0.93141229
79MP0003763_abnormal_thymus_physiology0.92595109
80MP0003656_abnormal_erythrocyte_physiolo0.90476389
81MP0003566_abnormal_cell_adhesion0.90057898
82MP0002095_abnormal_skin_pigmentation0.88623021
83MP0003693_abnormal_embryo_hatching0.87435604
84MP0008004_abnormal_stomach_pH0.87053427
85MP0008260_abnormal_autophagy0.85455786
86MP0001764_abnormal_homeostasis0.83958066
87MP0002928_abnormal_bile_duct0.82778533
88MP0002998_abnormal_bone_remodeling0.81852329
89MP0000249_abnormal_blood_vessel0.81696610
90MP0003045_fibrosis0.79394879
91MP0009763_increased_sensitivity_to0.79091014
92MP0004858_abnormal_nervous_system0.75951089
93MP0010307_abnormal_tumor_latency0.74616508
94MP0003638_abnormal_response/metabolism_0.74448590
95MP0000371_diluted_coat_color0.73528945
96MP0003806_abnormal_nucleotide_metabolis0.73085048
97MP0005310_abnormal_salivary_gland0.72348488
98MP0002019_abnormal_tumor_incidence0.69877156
99MP0005076_abnormal_cell_differentiation0.68772919
100MP0001663_abnormal_digestive_system0.67880940
101MP0003221_abnormal_cardiomyocyte_apopto0.67770572
102MP0003453_abnormal_keratinocyte_physiol0.64488487
103MP0005248_abnormal_Harderian_gland0.64029822
104MP0009765_abnormal_xenobiotic_induced0.63874844
105MP0008874_decreased_physiological_sensi0.62514857
106MP0002132_abnormal_respiratory_system0.60443372
107MP0003795_abnormal_bone_structure0.60119304
108MP0004130_abnormal_muscle_cell0.60055549
109MP0005319_abnormal_enzyme/_coenzyme0.58382467
110MP0001958_emphysema0.58220561
111MP0003690_abnormal_glial_cell0.57648254
112MP0004782_abnormal_surfactant_physiolog0.56979834
113MP0002332_abnormal_exercise_endurance0.56467548
114MP0000604_amyloidosis0.56465021
115MP0005388_respiratory_system_phenotype0.56420606
116MP0002133_abnormal_respiratory_system0.56420606
117MP0010352_gastrointestinal_tract_polyps0.56291193
118MP0000920_abnormal_myelination0.55284465
119MP0002138_abnormal_hepatobiliary_system0.52921938
120MP0003252_abnormal_bile_duct0.52257498
121MP0005083_abnormal_biliary_tract0.50353270
122MP0002693_abnormal_pancreas_physiology0.49844883

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)7.91814733
2Recurrent bacterial skin infections (HP:0005406)7.02592589
3Eczematoid dermatitis (HP:0000976)6.88670472
4Recurrent gram-negative bacterial infections (HP:0005420)6.03376928
5Systemic lupus erythematosus (HP:0002725)5.37566222
6Abnormality of macrophages (HP:0004311)5.09703212
7Gastrointestinal infarctions (HP:0005244)4.81082545
8Obstructive lung disease (HP:0006536)4.61794457
9Chronic obstructive pulmonary disease (HP:0006510)4.61794457
10Myositis (HP:0100614)4.56948511
11Recurrent skin infections (HP:0001581)4.31962299
12Elevated erythrocyte sedimentation rate (HP:0003565)4.12098565
13Mediastinal lymphadenopathy (HP:0100721)4.11428926
14Recurrent fungal infections (HP:0002841)4.09009245
15Keratoconjunctivitis (HP:0001096)3.95965430
16Gingivitis (HP:0000230)3.93549796
17Hypochromic microcytic anemia (HP:0004840)3.81050706
18Glomerulonephritis (HP:0000099)3.78207321
19Increased cerebral lipofuscin (HP:0011813)3.71750095
20Cellulitis (HP:0100658)3.66587465
21Increased neuronal autofluorescent lipopigment (HP:0002074)3.63573987
22Stomatitis (HP:0010280)3.62982226
23Spontaneous hematomas (HP:0007420)3.58109736
24Episodic fever (HP:0001954)3.50965444
25Vacuolated lymphocytes (HP:0001922)3.48336311
26Hypochromic anemia (HP:0001931)3.47574626
27Peritonitis (HP:0002586)3.44087674
28Orchitis (HP:0100796)3.39464498
29Abnormality of glycolipid metabolism (HP:0010969)3.33502956
30Abnormality of liposaccharide metabolism (HP:0010968)3.33502956
31Abnormality of glycosphingolipid metabolism (HP:0004343)3.33502956
32Meningitis (HP:0001287)3.29487435
33Urticaria (HP:0001025)3.17484285
34Prolonged bleeding time (HP:0003010)3.14925809
35Periodontitis (HP:0000704)3.12608429
36Dysostosis multiplex (HP:0000943)3.10555863
37IgM deficiency (HP:0002850)3.09997886
38Interstitial pulmonary disease (HP:0006530)3.05575289
39Hematochezia (HP:0002573)3.05538060
40Anorexia (HP:0002039)3.04189816
41Chronic otitis media (HP:0000389)3.01187544
42Thrombocytosis (HP:0001894)2.95480855
43Petechiae (HP:0000967)2.94479341
44Recurrent cutaneous fungal infections (HP:0011370)2.94250295
45Chronic mucocutaneous candidiasis (HP:0002728)2.94250295
46Recurrent viral infections (HP:0004429)2.83424109
47Inflammation of the large intestine (HP:0002037)2.82191035
48Epistaxis (HP:0000421)2.81746294
49Abnormal delayed hypersensitivity skin test (HP:0002963)2.80284671
50T lymphocytopenia (HP:0005403)2.73675406
51Leukocytosis (HP:0001974)2.73634938
52Gastrointestinal inflammation (HP:0004386)2.69610490
53Abnormality of T cell number (HP:0011839)2.68251758
54Vasculitis (HP:0002633)2.64672899
55Abnormal platelet function (HP:0011869)2.59763839
56Impaired platelet aggregation (HP:0003540)2.59763839
57Panhypogammaglobulinemia (HP:0003139)2.57863845
58Abnormality of the pleura (HP:0002103)2.57795041
59Colitis (HP:0002583)2.57774712
60Increased IgM level (HP:0003496)2.55584578
61Eosinophilia (HP:0001880)2.55017760
62Mucopolysacchariduria (HP:0008155)2.55005665
63Urinary glycosaminoglycan excretion (HP:0003541)2.55005665
64Abnormality of T cells (HP:0002843)2.54710101
65Abnormality of the peritoneum (HP:0002585)2.54445573
66Retrobulbar optic neuritis (HP:0100654)2.53816242
67Optic neuritis (HP:0100653)2.53816242
68Pustule (HP:0200039)2.53010519
69Gingival bleeding (HP:0000225)2.52040054
70Thoracic kyphosis (HP:0002942)2.51294754
71Gangrene (HP:0100758)2.49282508
72Urethral obstruction (HP:0000796)2.49094675
73Microcytic anemia (HP:0001935)2.49055009
74Abnormality of polysaccharide metabolism (HP:0011012)2.44406897
75Abnormality of glycosaminoglycan metabolism (HP:0004371)2.44406897
76Abnormality of mucopolysaccharide metabolism (HP:0011020)2.44406897
77Osteomyelitis (HP:0002754)2.40574979
78Agnosia (HP:0010524)2.40310023
79Granulocytopenia (HP:0001913)2.39876619
80Abnormality of the endocardium (HP:0004306)2.37018096
81Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.35564047
82Hemoptysis (HP:0002105)2.33291905
83Autoimmune thrombocytopenia (HP:0001973)2.32943077
84Chest pain (HP:0100749)2.32502200
85Hypergammaglobulinemia (HP:0010702)2.31206417
86Cheilitis (HP:0100825)2.25463958
87Glomerulopathy (HP:0100820)2.24403322
88Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.21513356
89Skin ulcer (HP:0200042)2.20066596
90Acute hepatic failure (HP:0006554)2.19450160
91Abnormality of eosinophils (HP:0001879)2.19124205
92Keratitis (HP:0000491)2.19081633
93Recurrent pneumonia (HP:0006532)2.18357497
94Acne (HP:0001061)2.17935744
95Axonal loss (HP:0003447)2.16972494
96Arterial thrombosis (HP:0004420)2.16367332
97Nephritis (HP:0000123)2.15688979
98Premature loss of primary teeth (HP:0006323)2.13621093
99Complement deficiency (HP:0004431)2.12735577
100Increased IgE level (HP:0003212)2.11848841
101Abnormality of the pericardium (HP:0001697)2.11753771
102Abnormality of cells of the lymphoid lineage (HP:0012140)2.11119449
103Basal ganglia calcification (HP:0002135)2.10477747
104Vertigo (HP:0002321)2.06882976
105Disinhibition (HP:0000734)2.04534464
106Abnormality of T cell physiology (HP:0011840)2.03645156
107Pulmonary infiltrates (HP:0002113)2.03374213
108Metaphyseal cupping (HP:0003021)2.02741293
109Albinism (HP:0001022)2.02182950
110Loss of speech (HP:0002371)2.01514759
111Encephalitis (HP:0002383)2.00123768
112Subacute progressive viral hepatitis (HP:0006572)1.99418329
113Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.99367868
114Sepsis (HP:0100806)1.99343244
115Slow saccadic eye movements (HP:0000514)1.98436312
116Keratoconjunctivitis sicca (HP:0001097)1.98322418
117Abnormality of the thoracic spine (HP:0100711)1.98126160
118Viral hepatitis (HP:0006562)1.96724220
119Abnormal platelet volume (HP:0011876)1.95080678
120Abnormality of the prostate (HP:0008775)1.94803594
121Spondylolisthesis (HP:0003302)1.94012337
122Abnormality of the nasal mucosa (HP:0000433)1.93219801
123Hypermelanotic macule (HP:0001034)1.92184371
124Abnormality of complement system (HP:0005339)1.91138138
125Purpura (HP:0000979)1.90851150
126Segmental peripheral demyelination/remyelination (HP:0003481)1.90161078
127Skin rash (HP:0000988)1.89869213
128Difficulty running (HP:0009046)1.89666146
129Amyloidosis (HP:0011034)1.86465836
130Recurrent lower respiratory tract infections (HP:0002783)1.86264290
131Pulmonary embolism (HP:0002204)1.85758554
132Acute myeloid leukemia (HP:0004808)1.85172923
133Short femoral neck (HP:0100864)1.85029777
134Increased serum ferritin (HP:0003281)1.84344409
135Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)1.83100744
136Polyneuropathy (HP:0001271)1.82142958
137Thyroiditis (HP:0100646)1.80316423
138Abnormality of iron homeostasis (HP:0011031)1.79975409
139Lymphopenia (HP:0001888)1.79651885
140Polygenic inheritance (HP:0010982)1.79598805
141Thrombophlebitis (HP:0004418)1.75844762
142Nasal polyposis (HP:0100582)1.72741204
143Recurrent sinusitis (HP:0011108)1.71846281

Predicted kinase interactions (KEA)

RankGene SetZ-score
1IRAK44.05451072
2TGFBR23.61660924
3KIT3.18500859
4MAP4K13.05497845
5MAP2K33.01707716
6RIPK42.94242175
7BLK2.83496545
8ERN12.82919840
9CSF1R2.71017574
10BTK2.64423892
11TEC2.62115029
12EPHB12.61694274
13FES2.45051256
14TYK22.16520452
15IRAK32.04266082
16CLK12.01947862
17ZAP701.97270635
18CSK1.85787570
19PAK41.78294824
20PRPF4B1.78099594
21FLT31.76442713
22STK101.73093581
23TXK1.65910573
24TBK11.63568411
25KSR21.55297962
26MAP3K31.55114063
27TRPM71.50142034
28* HCK1.47000864
29SIK31.46140231
30CAMK1D1.45803172
31SYK1.39995158
32MATK1.37223879
33ITK1.34469959
34MAP3K11.30263655
35IRAK11.26778342
36FGR1.23380857
37IRAK21.17045296
38MARK21.16831053
39LYN1.15626626
40GRK71.14404086
41MAP3K121.13535913
42PRKD21.12620882
43LCK1.07971378
44GRK61.03591174
45EEF2K1.03445903
46CAMK1G1.02695718
47IKBKE1.02211870
48TAOK31.00183569
49CDK190.96991394
50MAP3K140.94435034
51JAK30.92409529
52IKBKB0.91709488
53RPS6KA40.91679704
54CAMKK20.91533215
55PKN20.90508686
56SMG10.90211408
57LRRK20.89405259
58TRIB30.88567389
59PRKG20.85071675
60MAP3K70.82126167
61MAP2K40.80065871
62PTK60.79665024
63MAP3K110.76625824
64TAOK20.76458566
65PTK2B0.73409131
66JAK10.72519479
67MAP3K20.71468874
68FYN0.69903846
69STK380.69174276
70STK110.68589767
71DYRK1B0.68378197
72BMPR20.65450082
73PIK3CG0.65445295
74PIM10.65076442
75SIK20.65052570
76EPHA30.64437942
77JAK20.63195783
78ERBB30.63075745
79DAPK20.61767571
80MAPK150.61270504
81RAF10.61033241
82MARK30.60898396
83RPS6KA60.60554317
84MAPKAPK20.60344404
85VRK10.59692254
86TGFBR10.58750975
87MAPK40.57029387
88TAOK10.56610115
89SIK10.56014113
90MAP3K50.55779215
91RPS6KL10.54650591
92RPS6KC10.54650591
93YES10.53489087
94KSR10.52460504
95MAP3K60.52094278
96MAP3K130.50578132
97TNK20.50091636
98PRKCQ0.49769588
99HIPK20.49521230
100RET0.49359510
101MAP3K90.49298369
102EGFR0.49278231
103CDC42BPA0.48423987
104ALK0.48354314
105TSSK60.48227957
106NEK20.46668555
107TESK20.46289948
108FGFR40.46034255
109FGFR30.45236006
110PRKCD0.45137516
111MAPK70.43856256
112KDR0.42105046
113CAMK40.41652215
114PIM20.41408499
115PRKCZ0.41265455
116PDK10.41025821
117NLK0.40432385
118RPS6KA20.38141505
119MAP3K80.37486271
120MAPKAPK30.36981487
121PDPK10.36424107
122NEK90.35763952
123EIF2AK20.34867522
124MAPK120.34796191
125PRKAA20.33223786
126STK40.33185312
127CAMKK10.32383955
128CAMK10.32238215
129PTK20.32202869
130MAP2K60.32177883
131WNK10.31288111
132ADRBK20.31131441
133SGK30.30977923
134SGK20.29944409
135PRKCH0.29000476
136STK160.28805774
137ABL10.27399188
138CDK70.26508723

Predicted pathways (KEGG)

RankGene SetZ-score
1Staphylococcus aureus infection_Homo sapiens_hsa051504.19836466
2Leishmaniasis_Homo sapiens_hsa051403.53273143
3Other glycan degradation_Homo sapiens_hsa005112.92342793
4Osteoclast differentiation_Homo sapiens_hsa043802.75314906
5Glycosaminoglycan degradation_Homo sapiens_hsa005312.73356609
6Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046662.33421441
7Pertussis_Homo sapiens_hsa051332.32427493
8B cell receptor signaling pathway_Homo sapiens_hsa046622.31992668
9Graft-versus-host disease_Homo sapiens_hsa053322.24095382
10Toll-like receptor signaling pathway_Homo sapiens_hsa046202.04911503
11Autoimmune thyroid disease_Homo sapiens_hsa053202.03130184
12Leukocyte transendothelial migration_Homo sapiens_hsa046701.96809448
13Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.87788298
14Tuberculosis_Homo sapiens_hsa051521.87352535
15Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.87199936
16Legionellosis_Homo sapiens_hsa051341.85575710
17Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.74579626
18Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.74128787
19Caffeine metabolism_Homo sapiens_hsa002321.72445261
20Lysosome_Homo sapiens_hsa041421.71461756
21Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.69823114
22NF-kappa B signaling pathway_Homo sapiens_hsa040641.63473975
23Type I diabetes mellitus_Homo sapiens_hsa049401.62425877
24Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.59032459
25Shigellosis_Homo sapiens_hsa051311.58767779
26Chemokine signaling pathway_Homo sapiens_hsa040621.56302527
27Acute myeloid leukemia_Homo sapiens_hsa052211.55687068
28NOD-like receptor signaling pathway_Homo sapiens_hsa046211.55639855
29Measles_Homo sapiens_hsa051621.54235907
30* Hematopoietic cell lineage_Homo sapiens_hsa046401.50160748
31Malaria_Homo sapiens_hsa051441.43635885
32Platelet activation_Homo sapiens_hsa046111.40623825
33Toxoplasmosis_Homo sapiens_hsa051451.40227735
34RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.35442146
35Influenza A_Homo sapiens_hsa051641.32865344
36Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.29034078
37Salmonella infection_Homo sapiens_hsa051321.28874213
38Herpes simplex infection_Homo sapiens_hsa051681.27264875
39Hepatitis B_Homo sapiens_hsa051611.26135817
40Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.25260127
41TNF signaling pathway_Homo sapiens_hsa046681.25045741
42Transcriptional misregulation in cancer_Homo sapiens_hsa052021.17966281
43Antigen processing and presentation_Homo sapiens_hsa046121.17078561
44Asthma_Homo sapiens_hsa053101.09450508
45Intestinal immune network for IgA production_Homo sapiens_hsa046721.09428692
46Phagosome_Homo sapiens_hsa041451.08786145
47Chronic myeloid leukemia_Homo sapiens_hsa052201.08069107
48* Jak-STAT signaling pathway_Homo sapiens_hsa046301.04352539
49Pancreatic cancer_Homo sapiens_hsa052121.01233180
50Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.96881527
51Neurotrophin signaling pathway_Homo sapiens_hsa047220.95373776
52Apoptosis_Homo sapiens_hsa042100.93471563
53Primary immunodeficiency_Homo sapiens_hsa053400.93266719
54Pentose phosphate pathway_Homo sapiens_hsa000300.91879251
55DNA replication_Homo sapiens_hsa030300.89937721
56* Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.88202905
57AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.83751157
58Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.83444863
59Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.81710880
60Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.79113076
61Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.78341821
62Regulation of autophagy_Homo sapiens_hsa041400.78286177
63African trypanosomiasis_Homo sapiens_hsa051430.78221889
64Phospholipase D signaling pathway_Homo sapiens_hsa040720.77907480
65Complement and coagulation cascades_Homo sapiens_hsa046100.75317073
66Epstein-Barr virus infection_Homo sapiens_hsa051690.73454908
67Non-small cell lung cancer_Homo sapiens_hsa052230.71781299
68Endometrial cancer_Homo sapiens_hsa052130.70898858
69VEGF signaling pathway_Homo sapiens_hsa043700.70817864
70Hepatitis C_Homo sapiens_hsa051600.69143088
71Choline metabolism in cancer_Homo sapiens_hsa052310.68978089
72Carbohydrate digestion and absorption_Homo sapiens_hsa049730.68584519
73Adipocytokine signaling pathway_Homo sapiens_hsa049200.68505176
74Amoebiasis_Homo sapiens_hsa051460.67586994
75Rheumatoid arthritis_Homo sapiens_hsa053230.67427329
76Notch signaling pathway_Homo sapiens_hsa043300.65478552
77Phosphatidylinositol signaling system_Homo sapiens_hsa040700.63534897
78Endocytosis_Homo sapiens_hsa041440.63173721
79T cell receptor signaling pathway_Homo sapiens_hsa046600.63151460
80GnRH signaling pathway_Homo sapiens_hsa049120.62512877
81Dorso-ventral axis formation_Homo sapiens_hsa043200.61339224
82Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.59779404
83Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.59012413
84Sphingolipid signaling pathway_Homo sapiens_hsa040710.58441100
85Glycerophospholipid metabolism_Homo sapiens_hsa005640.57104513
86Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.54742175
87SNARE interactions in vesicular transport_Homo sapiens_hsa041300.54663729
88mTOR signaling pathway_Homo sapiens_hsa041500.52666274
89Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.51843479
90Base excision repair_Homo sapiens_hsa034100.51249458
91Regulation of actin cytoskeleton_Homo sapiens_hsa048100.50996051
92Type II diabetes mellitus_Homo sapiens_hsa049300.49595389
93Viral myocarditis_Homo sapiens_hsa054160.49371297
94Colorectal cancer_Homo sapiens_hsa052100.47706436
95ABC transporters_Homo sapiens_hsa020100.47339920
96Insulin resistance_Homo sapiens_hsa049310.47126448
97Rap1 signaling pathway_Homo sapiens_hsa040150.45606141
98ErbB signaling pathway_Homo sapiens_hsa040120.45234543
99Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.44020188
100Arachidonic acid metabolism_Homo sapiens_hsa005900.43161678
101HIF-1 signaling pathway_Homo sapiens_hsa040660.40888999
102HTLV-I infection_Homo sapiens_hsa051660.38729737
103Prolactin signaling pathway_Homo sapiens_hsa049170.36551994
104Inositol phosphate metabolism_Homo sapiens_hsa005620.36351457
105Insulin signaling pathway_Homo sapiens_hsa049100.36309717
106Viral carcinogenesis_Homo sapiens_hsa052030.35529757
107Non-homologous end-joining_Homo sapiens_hsa034500.34821801
108Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.34278111
109Allograft rejection_Homo sapiens_hsa053300.33137725
110Estrogen signaling pathway_Homo sapiens_hsa049150.31503242
111Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.31424692
112Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.30858679
113Small cell lung cancer_Homo sapiens_hsa052220.30675961
114Homologous recombination_Homo sapiens_hsa034400.29410315
115FoxO signaling pathway_Homo sapiens_hsa040680.29238410
116N-Glycan biosynthesis_Homo sapiens_hsa005100.28577277
117MAPK signaling pathway_Homo sapiens_hsa040100.28135920
118Renal cell carcinoma_Homo sapiens_hsa052110.27343892
119Histidine metabolism_Homo sapiens_hsa003400.26425194
120Fructose and mannose metabolism_Homo sapiens_hsa000510.26110457

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