CYBB

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: Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1modulation by organism of defense response of other organism involved in symbiotic interaction (GO:06.40297524
2positive regulation by organism of defense response of other organism involved in symbiotic interact6.40297524
3modulation by symbiont of host immune response (GO:0052553)6.40297524
4positive regulation by symbiont of host defense response (GO:0052509)6.40297524
5modulation by symbiont of host defense response (GO:0052031)6.40297524
6modulation by organism of immune response of other organism involved in symbiotic interaction (GO:006.40297524
7neutrophil activation involved in immune response (GO:0002283)6.15569704
8antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G6.01708945
9response to peptidoglycan (GO:0032494)5.93325945
10negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.03022595
11negative regulation of cell killing (GO:0031342)5.03022595
12macrophage activation involved in immune response (GO:0002281)4.88251689
13immunoglobulin mediated immune response (GO:0016064)4.86751934
14positive regulation of interferon-alpha production (GO:0032727)4.79666930
15regulation of interferon-beta biosynthetic process (GO:0045357)4.65216829
16response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.58990922
17response to host immune response (GO:0052572)4.58990922
18regulation of interferon-alpha production (GO:0032647)4.54070926
19* respiratory burst (GO:0045730)4.52279912
20granulocyte activation (GO:0036230)4.49838382
21detection of external biotic stimulus (GO:0098581)4.49165437
22detection of bacterium (GO:0016045)4.48902637
23neutrophil activation (GO:0042119)4.41871880
24positive regulation of interleukin-8 biosynthetic process (GO:0045416)4.38371023
25production of molecular mediator involved in inflammatory response (GO:0002532)4.32250387
26regulation of gamma-delta T cell activation (GO:0046643)4.21022056
27leukocyte aggregation (GO:0070486)4.16153367
28lipopolysaccharide-mediated signaling pathway (GO:0031663)4.13618647
29response to defenses of other organism involved in symbiotic interaction (GO:0052173)4.08084029
30response to host (GO:0075136)4.08084029
31response to host defenses (GO:0052200)4.08084029
32detection of biotic stimulus (GO:0009595)4.02145345
33positive regulation of mast cell activation involved in immune response (GO:0033008)3.99152750
34positive regulation of mast cell degranulation (GO:0043306)3.99152750
35positive regulation of cellular amide metabolic process (GO:0034250)3.85272513
36positive regulation of mast cell activation (GO:0033005)3.83995818
37microglial cell activation (GO:0001774)3.81645777
38positive regulation of chemokine biosynthetic process (GO:0045080)3.80908700
39myeloid cell activation involved in immune response (GO:0002275)3.79646148
40natural killer cell mediated cytotoxicity (GO:0042267)3.70215549
41natural killer cell mediated immunity (GO:0002228)3.70215549
42antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.66563650
43regulation of mast cell degranulation (GO:0043304)3.61342393
44regulation of B cell receptor signaling pathway (GO:0050855)3.58545446
45macrophage activation (GO:0042116)3.57097301
46B cell mediated immunity (GO:0019724)3.56643193
47positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.56137273
48positive regulation of interferon-beta production (GO:0032728)3.55684236
49* hydrogen peroxide biosynthetic process (GO:0050665)3.54228977
50detection of molecule of bacterial origin (GO:0032490)3.52403190
51type I interferon signaling pathway (GO:0060337)3.51471583
52cellular response to type I interferon (GO:0071357)3.51471583
53cellular response to thyroid hormone stimulus (GO:0097067)3.51207668
54response to type I interferon (GO:0034340)3.50133130
55* superoxide anion generation (GO:0042554)3.49901150
56response to muramyl dipeptide (GO:0032495)3.48921508
57cellular extravasation (GO:0045123)3.48030995
58regulation of gamma-delta T cell differentiation (GO:0045586)3.46452570
59interferon-gamma-mediated signaling pathway (GO:0060333)3.42829130
60leukocyte mediated cytotoxicity (GO:0001909)3.41725759
61regulation of mast cell activation (GO:0033003)3.40361042
62defense response to protozoan (GO:0042832)3.40013016
63regulation of mast cell activation involved in immune response (GO:0033006)3.39186646
64antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.37511121
65positive regulation of antigen processing and presentation (GO:0002579)3.35120067
66neutrophil mediated immunity (GO:0002446)3.34350038
67regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.33214861
68positive regulation of gamma-delta T cell activation (GO:0046645)3.32085693
69positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.31051498
70regulation of tolerance induction (GO:0002643)3.28845456
71positive regulation of myeloid leukocyte mediated immunity (GO:0002888)3.27652774
72positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610813.27295527
73regulation of mononuclear cell migration (GO:0071675)3.27234482
74regulation of chemokine biosynthetic process (GO:0045073)3.25844857
75negative regulation of interleukin-12 production (GO:0032695)3.25270469
76positive regulation of leukocyte degranulation (GO:0043302)3.24137742
77positive regulation of B cell differentiation (GO:0045579)3.23567174
78regulation of syncytium formation by plasma membrane fusion (GO:0060142)3.22643074
79negative regulation of T cell mediated immunity (GO:0002710)3.21947470
80negative regulation of lymphocyte mediated immunity (GO:0002707)3.21002467
81cellular response to zinc ion (GO:0071294)3.19719108
82negative regulation of myeloid cell apoptotic process (GO:0033033)3.19241196
83* reactive oxygen species biosynthetic process (GO:1903409)3.18304202
84positive regulation of toll-like receptor signaling pathway (GO:0034123)3.18223905
85regulation of T cell tolerance induction (GO:0002664)3.18046923
86regulation of dendritic cell antigen processing and presentation (GO:0002604)3.16607299
87negative regulation of interleukin-17 production (GO:0032700)3.15726125
88positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.14661376
89T-helper 1 type immune response (GO:0042088)3.14617073
90negative regulation of erythrocyte differentiation (GO:0045647)3.13255741
91regulation of interleukin-8 biosynthetic process (GO:0045414)3.12877083
92regulation of myeloid leukocyte mediated immunity (GO:0002886)3.12875136
93neutrophil chemotaxis (GO:0030593)3.11858632
94regulation of leukocyte degranulation (GO:0043300)3.11779026
95positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.10550356
96glycosphingolipid catabolic process (GO:0046479)3.10213279
97positive regulation of heat generation (GO:0031652)3.09399255
98lymphocyte chemotaxis (GO:0048247)3.08212433
99B cell receptor signaling pathway (GO:0050853)3.06277863
100antigen processing and presentation of endogenous antigen (GO:0019883)3.04385190
101neutrophil migration (GO:1990266)3.03121813
102positive regulation of monocyte chemotaxis (GO:0090026)3.02476911
103negative regulation of leukocyte mediated immunity (GO:0002704)2.99673311
104amino sugar catabolic process (GO:0046348)2.97827119
105I-kappaB phosphorylation (GO:0007252)2.97095610
106positive regulation of heterotypic cell-cell adhesion (GO:0034116)2.95218127
107regulation of fever generation (GO:0031620)2.95174811
108regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.95090749
109regulation of regulated secretory pathway (GO:1903305)2.94298897
110T cell migration (GO:0072678)2.93832599
111response to protozoan (GO:0001562)2.93737038
112myeloid leukocyte activation (GO:0002274)2.93489238
113response to interferon-alpha (GO:0035455)2.92502062
114positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.92315471
115positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.91224760
116negative regulation of growth of symbiont in host (GO:0044130)2.90283685
117negative regulation of growth of symbiont involved in interaction with host (GO:0044146)2.90283685
118modulation of growth of symbiont involved in interaction with host (GO:0044144)2.90283685
119regulation of growth of symbiont in host (GO:0044126)2.90283685
120antigen processing and presentation via MHC class Ib (GO:0002475)2.90050587
121regulation of antigen processing and presentation (GO:0002577)2.89028250
122regulation of macrophage cytokine production (GO:0010935)2.89006486
123positive regulation of macrophage cytokine production (GO:0060907)2.88702851
124myeloid leukocyte mediated immunity (GO:0002444)2.87578643
125positive regulation of type 2 immune response (GO:0002830)2.87078672
126detection of other organism (GO:0098543)2.86995625
127oligosaccharide catabolic process (GO:0009313)2.86589783
128lymphocyte mediated immunity (GO:0002449)2.86101910
129regulation of cholesterol storage (GO:0010885)2.85393461
130leukocyte migration involved in inflammatory response (GO:0002523)2.83313701
131germinal center formation (GO:0002467)2.82820136
132positive thymic T cell selection (GO:0045059)2.78974751
133regulation of B cell differentiation (GO:0045577)2.78016488
134glycolipid catabolic process (GO:0019377)2.77633821

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* IRF8_21731497_ChIP-ChIP_J774_Mouse7.22170912
2IRF8_22096565_ChIP-ChIP_GC-B_Human7.06134659
3BP1_19119308_ChIP-ChIP_Hs578T_Human6.49809538
4* IRF8_27001747_Chip-Seq_BMDM_Mouse4.76717746
5* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse4.36631225
6IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.15177834
7IRF1_21803131_ChIP-Seq_MONOCYTES_Human4.07090794
8NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.96321625
9Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse3.86916204
10MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.53943283
11FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.45378098
12MYB_21317192_ChIP-Seq_ERMYB_Mouse3.39485430
13STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.01174006
14EGR1_19374776_ChIP-ChIP_THP-1_Human2.94195205
15RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.92674818
16STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.79463819
17* SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.79184742
18STAT4_19710469_ChIP-ChIP_TH1__Mouse2.51492551
19NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.41943135
20CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.30339351
21* BRD4_27068464_Chip-Seq_AML-cells_Mouse2.30131165
22SPI1_23547873_ChIP-Seq_NB4_Human2.29549930
23PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse2.05543283
24NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.98746974
25PU_27001747_Chip-Seq_BMDM_Mouse1.88144179
26STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.87581080
27VDR_24763502_ChIP-Seq_THP-1_Human1.80776427
28CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.80339485
29CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.75031671
30VDR_24787735_ChIP-Seq_THP-1_Human1.74371976
31MYB_26560356_Chip-Seq_TH2_Human1.72612546
32SPI1_23127762_ChIP-Seq_K562_Human1.72304619
33PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.71658270
34RUNX1_22412390_ChIP-Seq_EML_Mouse1.68369039
35RUNX_20019798_ChIP-Seq_JUKART_Human1.66838404
36RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.66342610
37SCL_19346495_ChIP-Seq_HPC-7_Human1.61688071
38ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.59928452
39FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.55070499
40VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.53574655
41MAF_26560356_Chip-Seq_TH1_Human1.47679505
42CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.46601759
43MYC_22102868_ChIP-Seq_BL_Human1.43190792
44THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.43021409
45CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.42768330
46MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.40217157
47MYB_26560356_Chip-Seq_TH1_Human1.37626646
48SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.37606486
49PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.32584901
50VDR_21846776_ChIP-Seq_THP-1_Human1.31558263
51STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.27977242
52LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.24952941
53SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.24725837
54NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.24471237
55FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.24119707
56PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.21544642
57KDM2B_26808549_Chip-Seq_DND41_Human1.20321127
58GATA3_26560356_Chip-Seq_TH2_Human1.20282224
59E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.16204693
60GATA3_27048872_Chip-Seq_THYMUS_Human1.15667246
61GATA2_22383799_ChIP-Seq_G1ME_Mouse1.13257062
62GATA2_21666600_ChIP-Seq_HMVEC_Human1.12314765
63CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.11903657
64KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.10533015
65SMAD_19615063_ChIP-ChIP_OVARY_Human1.10137707
66GATA1_22025678_ChIP-Seq_K562_Human1.09744601
67KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.09276806
68UTX_26944678_Chip-Seq_JUKART_Human1.05211888
69LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.97749151
70SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.97020121
71GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.93035088
72TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.86744698
73STAT6_21828071_ChIP-Seq_BEAS2B_Human0.86680876
74IKZF1_21737484_ChIP-ChIP_HCT116_Human0.85252532
75GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83884942
76EGR1_19032775_ChIP-ChIP_M12_Human0.83143977
77NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.83126005
78NRF2_20460467_ChIP-Seq_MEFs_Mouse0.83126005
79LXR_22292898_ChIP-Seq_THP-1_Human0.82668703
80GATA1_19941827_ChIP-Seq_MEL86_Mouse0.81165974
81TCF7_22412390_ChIP-Seq_EML_Mouse0.80231327
82GATA1_22383799_ChIP-Seq_G1ME_Mouse0.79452885
83SPI1_20517297_ChIP-Seq_HL60_Human0.78417826
84VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.78217789
85KDM2B_26808549_Chip-Seq_JURKAT_Human0.75547886
86GATA1_19941827_ChIP-Seq_MEL_Mouse0.75029732
87TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.74963131
88TFEB_21752829_ChIP-Seq_HELA_Human0.74116702
89SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.73458625
90RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.72188715
91ELF1_17652178_ChIP-ChIP_JURKAT_Human0.71471395
92GATA2_19941826_ChIP-Seq_K562_Human0.70649198
93SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.70348656
94CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.69923854
95MAF_26560356_Chip-Seq_TH2_Human0.69921537
96NCOR1_26117541_ChIP-Seq_K562_Human0.69706441
97SOX2_20726797_ChIP-Seq_SW620_Human0.69301517
98CDX2_19796622_ChIP-Seq_MESCs_Mouse0.68492275
99BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.68332838
100ELK3_25401928_ChIP-Seq_HUVEC_Human0.68272558
101STAT1_20625510_ChIP-Seq_HELA_Human0.67834671
102GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.67700209
103EGR1_23403033_ChIP-Seq_LIVER_Mouse0.67398612
104TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.67167546
105PU.1_20513432_ChIP-Seq_Bcells_Mouse0.67035775
106RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.64601050
107JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.64461874
108SMRT_27268052_Chip-Seq_Bcells_Human0.62141771
109JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.62109815
110GATA1_19941826_ChIP-Seq_K562_Human0.59118677
111GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.59016397
112GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.58174712
113KDM2B_26808549_Chip-Seq_SUP-B15_Human0.57496166
114SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.56380576
115SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.56380576
116CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.56379844

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.65965615
2MP0003436_decreased_susceptibility_to4.20136403
3MP0009785_altered_susceptibility_to3.96527852
4MP0003303_peritoneal_inflammation3.95372200
5MP0002148_abnormal_hypersensitivity_rea3.57075717
6* MP0002419_abnormal_innate_immunity3.50477981
7MP0005000_abnormal_immune_tolerance3.32791999
8* MP0005025_abnormal_response_to3.13048900
9MP0006082_CNS_inflammation3.08714713
10MP0003724_increased_susceptibility_to3.07193568
11MP0005058_abnormal_lysosome_morphology3.03450623
12* MP0002452_abnormal_antigen_presenting2.79723291
13* MP0005387_immune_system_phenotype2.74650764
14* MP0001790_abnormal_immune_system2.74650764
15MP0000685_abnormal_immune_system2.68395278
16MP0001800_abnormal_humoral_immune2.66932757
17MP0002723_abnormal_immune_serum2.58773743
18MP0004510_myositis2.45504233
19MP0005671_abnormal_response_to2.44177395
20* MP0001819_abnormal_immune_cell2.33006504
21* MP0002420_abnormal_adaptive_immunity2.30510041
22MP0001533_abnormal_skeleton_physiology2.28653745
23MP0005464_abnormal_platelet_physiology2.18549668
24MP0003172_abnormal_lysosome_physiology2.01304590
25* MP0001845_abnormal_inflammatory_respons1.97975781
26MP0009764_decreased_sensitivity_to1.97390496
27MP0002405_respiratory_system_inflammati1.96265057
28MP0004947_skin_inflammation1.92130686
29MP0001853_heart_inflammation1.89772666
30MP0003075_altered_response_to1.87526486
31MP0009278_abnormal_bone_marrow1.86203238
32MP0000343_altered_response_to1.82285162
33MP0000569_abnormal_digit_pigmentation1.76485906
34MP0008469_abnormal_protein_level1.73716872
35MP0000716_abnormal_immune_system1.63584073
36MP0010155_abnormal_intestine_physiology1.61381536
37MP0002006_tumorigenesis1.59855382
38* MP0003448_altered_tumor_morphology1.58944659
39MP0003191_abnormal_cellular_cholesterol1.58677312
40MP0002998_abnormal_bone_remodeling1.55066605
41MP0000604_amyloidosis1.54027808
42MP0005310_abnormal_salivary_gland1.48890079
43MP0002398_abnormal_bone_marrow1.48743104
44MP0005167_abnormal_blood-brain_barrier1.44930590
45MP0005166_decreased_susceptibility_to1.41653150
46MP0009333_abnormal_splenocyte_physiolog1.39586829
47MP0003183_abnormal_peptide_metabolism1.39127373
48MP0005397_hematopoietic_system_phenotyp1.31242938
49MP0001545_abnormal_hematopoietic_system1.31242938
50MP0002429_abnormal_blood_cell1.29765819
51MP0000689_abnormal_spleen_morphology1.29291150
52MP0003690_abnormal_glial_cell1.28419050
53MP0003300_gastrointestinal_ulcer1.26614292
54MP0009840_abnormal_foam_cell1.25674850
55MP0002277_abnormal_respiratory_mucosa1.23090615
56MP0004782_abnormal_surfactant_physiolog1.22995313
57MP0003828_pulmonary_edema1.15413220
58MP0005164_abnormal_response_to1.15065500
59MP0002166_altered_tumor_susceptibility1.13972865
60MP0002722_abnormal_immune_system1.13056991
61MP0001851_eye_inflammation1.12456440
62MP0003329_amyloid_beta_deposits1.12206268
63MP0003186_abnormal_redox_activity1.11986402
64* MP0000858_altered_metastatic_potential1.11467097
65MP0008260_abnormal_autophagy1.09781421
66MP0005076_abnormal_cell_differentiation1.09428934
67MP0005174_abnormal_tail_pigmentation1.08999737
68MP0005390_skeleton_phenotype1.07432647
69MP0009763_increased_sensitivity_to1.02342931
70MP0002933_joint_inflammation0.99771173
71MP0003866_abnormal_defecation0.99468333
72MP0002132_abnormal_respiratory_system0.98099605
73MP0008004_abnormal_stomach_pH0.97341099
74MP0003806_abnormal_nucleotide_metabolis0.94665719
75MP0010307_abnormal_tumor_latency0.93873578
76MP0003195_calcinosis0.84609235
77MP0003656_abnormal_erythrocyte_physiolo0.84345466
78MP0000249_abnormal_blood_vessel0.80790816
79MP0003566_abnormal_cell_adhesion0.80662164
80MP0002877_abnormal_melanocyte_morpholog0.76856943
81MP0004381_abnormal_hair_follicle0.76362411
82MP0000371_diluted_coat_color0.75059297
83MP0002139_abnormal_hepatobiliary_system0.73602397
84MP0000015_abnormal_ear_pigmentation0.72439649
85MP0006054_spinal_hemorrhage0.72305286
86MP0004883_abnormal_blood_vessel0.72055380
87MP0003795_abnormal_bone_structure0.71867230
88MP0003453_abnormal_keratinocyte_physiol0.71526129
89MP0002138_abnormal_hepatobiliary_system0.69275529
90MP0000465_gastrointestinal_hemorrhage0.68248299
91MP0002254_reproductive_system_inflammat0.67189121
92MP0009765_abnormal_xenobiotic_induced0.65004963
93MP0003221_abnormal_cardiomyocyte_apopto0.63833882
94MP0008874_decreased_physiological_sensi0.62225145
95MP0004130_abnormal_muscle_cell0.62190441
96MP0004808_abnormal_hematopoietic_stem0.60878990
97* MP0002136_abnormal_kidney_physiology0.58045326
98MP0000767_abnormal_smooth_muscle0.57205564
99MP0005451_abnormal_body_composition0.56632072
100MP0002396_abnormal_hematopoietic_system0.56559282
101MP0003091_abnormal_cell_migration0.56283072
102MP0001663_abnormal_digestive_system0.55810813
103MP0003763_abnormal_thymus_physiology0.55804306
104MP0009115_abnormal_fat_cell0.55705312
105MP0002332_abnormal_exercise_endurance0.55427269
106MP0000609_abnormal_liver_physiology0.54385199
107MP0005388_respiratory_system_phenotype0.54044655
108MP0002133_abnormal_respiratory_system0.54044655
109MP0005365_abnormal_bile_salt0.53982658
110MP0000490_abnormal_crypts_of0.53784023
111MP0008873_increased_physiological_sensi0.52575083
112MP0001873_stomach_inflammation0.52276357
113MP0010352_gastrointestinal_tract_polyps0.52247719
114MP0000920_abnormal_myelination0.52170275
115MP0001958_emphysema0.49254779
116MP0005023_abnormal_wound_healing0.49102849
117MP0005319_abnormal_enzyme/_coenzyme0.47096138
118MP0000703_abnormal_thymus_morphology0.46145740
119MP0004858_abnormal_nervous_system0.43453001

Predicted human phenotypes

RankGene SetZ-score
1* Recurrent abscess formation (HP:0002722)8.13640981
2* Recurrent bacterial skin infections (HP:0005406)7.15587380
3* Eczematoid dermatitis (HP:0000976)6.75441146
4* Recurrent gram-negative bacterial infections (HP:0005420)6.41022317
5* Abnormality of macrophages (HP:0004311)5.08357412
6* Mediastinal lymphadenopathy (HP:0100721)5.00785066
7Stomatitis (HP:0010280)4.77195707
8Systemic lupus erythematosus (HP:0002725)4.69884325
9Vacuolated lymphocytes (HP:0001922)4.55926284
10* Recurrent skin infections (HP:0001581)4.39304471
11* Gingivitis (HP:0000230)4.34311918
12Autoimmune thrombocytopenia (HP:0001973)4.20735043
13Increased cerebral lipofuscin (HP:0011813)4.17548769
14Elevated erythrocyte sedimentation rate (HP:0003565)4.09039324
15Myositis (HP:0100614)4.02509228
16* Obstructive lung disease (HP:0006536)3.99597187
17* Chronic obstructive pulmonary disease (HP:0006510)3.99597187
18Orchitis (HP:0100796)3.92292750
19Increased neuronal autofluorescent lipopigment (HP:0002074)3.91616122
20Retrobulbar optic neuritis (HP:0100654)3.77039576
21Optic neuritis (HP:0100653)3.77039576
22* Recurrent fungal infections (HP:0002841)3.71210610
23Prostate neoplasm (HP:0100787)3.62625552
24Vasculitis (HP:0002633)3.59496348
25Disinhibition (HP:0000734)3.57469578
26Periodontitis (HP:0000704)3.43163408
27Pustule (HP:0200039)3.39632713
28Axonal loss (HP:0003447)3.29027322
29Glomerulonephritis (HP:0000099)3.25163313
30Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)3.20952403
31Recurrent cutaneous fungal infections (HP:0011370)3.20652843
32Chronic mucocutaneous candidiasis (HP:0002728)3.20652843
33Basal ganglia calcification (HP:0002135)3.19054265
34T lymphocytopenia (HP:0005403)3.18796367
35Amyloidosis (HP:0011034)3.09716874
36Interstitial pulmonary disease (HP:0006530)3.09360371
37Thick nail (HP:0001805)3.08498433
38* Cellulitis (HP:0100658)3.08052847
39Dysostosis multiplex (HP:0000943)3.00926362
40Abnormality of liposaccharide metabolism (HP:0010968)2.97586503
41Abnormality of glycosphingolipid metabolism (HP:0004343)2.97586503
42Abnormality of glycolipid metabolism (HP:0010969)2.97586503
43Abnormality of T cell number (HP:0011839)2.95651394
44* Recurrent viral infections (HP:0004429)2.88305691
45Pulmonary infiltrates (HP:0002113)2.84689647
46* Meningitis (HP:0001287)2.84041992
47* Urticaria (HP:0001025)2.83186284
48Increased IgM level (HP:0003496)2.78399919
49Encephalitis (HP:0002383)2.77919263
50Agnosia (HP:0010524)2.76622470
51Myocardial infarction (HP:0001658)2.66675390
52Leukocytosis (HP:0001974)2.53188725
53Tetraparesis (HP:0002273)2.52809524
54Mutism (HP:0002300)2.50826296
55Chest pain (HP:0100749)2.49059706
56* Recurrent pneumonia (HP:0006532)2.48712920
57Hepatosplenomegaly (HP:0001433)2.47130957
58Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.46330548
59Prolonged bleeding time (HP:0003010)2.43837875
60* Osteomyelitis (HP:0002754)2.41443069
61Spontaneous hematomas (HP:0007420)2.40805647
62Hemoptysis (HP:0002105)2.39070684
63Urinary glycosaminoglycan excretion (HP:0003541)2.37233945
64Mucopolysacchariduria (HP:0008155)2.37233945
65Chronic otitis media (HP:0000389)2.36021855
66Joint hemorrhage (HP:0005261)2.35972719
67Nephritis (HP:0000123)2.34208989
68Gingival bleeding (HP:0000225)2.33865541
69Arterial thrombosis (HP:0004420)2.33781558
70Gastrointestinal infarctions (HP:0005244)2.33256470
71Keratoconjunctivitis sicca (HP:0001097)2.32519294
72Hematochezia (HP:0002573)2.29968006
73Pulmonary embolism (HP:0002204)2.29652382
74Increased serum ferritin (HP:0003281)2.27583903
75Neurofibrillary tangles (HP:0002185)2.26694542
76Hypergammaglobulinemia (HP:0010702)2.26478224
77Abnormality of the prostate (HP:0008775)2.25729509
78* Recurrent lower respiratory tract infections (HP:0002783)2.24139790
79Abnormality of mucopolysaccharide metabolism (HP:0011020)2.22489980
80Abnormality of polysaccharide metabolism (HP:0011012)2.22489980
81Abnormality of glycosaminoglycan metabolism (HP:0004371)2.22489980
82Osteolytic defects of the hand bones (HP:0009699)2.19146033
83Osteolytic defects of the phalanges of the hand (HP:0009771)2.19146033
84Petechiae (HP:0000967)2.18561980
85Premature loss of primary teeth (HP:0006323)2.17936088
86Neuronal loss in central nervous system (HP:0002529)2.17106971
87Increased IgE level (HP:0003212)2.15142966
88Loss of speech (HP:0002371)2.14980895
89Polyneuropathy (HP:0001271)2.13739630
90Keratoconjunctivitis (HP:0001096)2.12736161
91Colitis (HP:0002583)2.11136517
92Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.10652029
93Abnormality of T cells (HP:0002843)2.09609566
94Episodic fever (HP:0001954)2.08393301
95Gastrointestinal stroma tumor (HP:0100723)2.05359926
96Pathologic fracture (HP:0002756)2.04563551
97Amaurosis fugax (HP:0100576)2.04413239
98Poor head control (HP:0002421)2.04385143
99Gangrene (HP:0100758)2.04301012
100Vertigo (HP:0002321)2.02000642
101Abnormality of iron homeostasis (HP:0011031)2.00888032
102Inflammation of the large intestine (HP:0002037)2.00861632
103Progressive visual loss (HP:0000529)1.99367207
104Abnormality of the periventricular white matter (HP:0002518)1.99350362
105Bone pain (HP:0002653)1.99153421
106Malnutrition (HP:0004395)1.95620786
107Glomerulopathy (HP:0100820)1.94996447
108Global brain atrophy (HP:0002283)1.94161926
109Cheilitis (HP:0100825)1.93780402
110* Skin ulcer (HP:0200042)1.93753185
111Abnormality of the endocardium (HP:0004306)1.93661000
112Abnormality of the pleura (HP:0002103)1.92586542
113Eosinophilia (HP:0001880)1.91425315
114* Sepsis (HP:0100806)1.91363533
115Anorexia (HP:0002039)1.91162942
116Arthralgia (HP:0002829)1.90438906
117Progressive neurologic deterioration (HP:0002344)1.89964249
118Abnormality of complement system (HP:0005339)1.89289396
119Increased CSF protein (HP:0002922)1.86338236
120Abnormality of the pericardium (HP:0001697)1.85367748
121Abnormal delayed hypersensitivity skin test (HP:0002963)1.84795771
122Gastrointestinal inflammation (HP:0004386)1.84678101
123Diminished motivation (HP:0000745)1.84518417
124Restrictive lung disease (HP:0002091)1.84516993
125Upper motor neuron abnormality (HP:0002127)1.84327458
126Epistaxis (HP:0000421)1.83482960
127Abnormality of the vasculature of the conjunctiva (HP:0008054)1.83044203
128Purpura (HP:0000979)1.82563056
129Peritonitis (HP:0002586)1.81968807

Predicted kinase interactions (KEA)

RankGene SetZ-score
1RIPK45.14980815
2BLK4.42312518
3MAP3K144.05285411
4PBK3.80401310
5IRAK43.79564976
6TBK13.11009466
7IRAK32.95934540
8TYK22.92014133
9MAP4K12.84568619
10PRPF4B2.59368762
11IKBKE2.49479465
12JAK32.15530156
13IKBKB2.06733078
14TXK2.04276867
15KIT1.99307115
16ERN11.99292043
17CSK1.89961303
18JAK11.88129821
19FGR1.73225735
20MAP3K131.58406061
21PIM21.56133948
22SYK1.50189156
23HCK1.45503413
24TAOK31.43901777
25CSF1R1.42650011
26ZAP701.36274581
27LYN1.32591008
28CAMKK21.31701748
29BTK1.30855833
30MARK31.23867528
31TAOK11.20974575
32FES1.16329231
33NEK91.14229248
34CLK11.14140483
35TNK21.12963675
36MATK1.12891065
37EPHB11.12691800
38STK101.12344578
39LCK1.11566617
40BMPR21.10683087
41CHUK1.09274361
42PIM11.08945733
43JAK21.07480286
44NME21.07441864
45BMX1.06487137
46MST1R1.06384717
47ABL21.05885609
48STK41.04812285
49ACVR1B1.00359395
50TEC1.00253099
51MST40.97684610
52RPS6KA40.96031738
53YES10.91506445
54PIK3CG0.91410256
55TAOK20.88667991
56MAP3K20.86778688
57CDC42BPA0.84618903
58TRPM70.84251470
59PRKCD0.79612745
60MAP3K60.79278652
61FGFR30.77674042
62EGFR0.74659120
63TGFBR20.73424888
64MAP3K50.72793663
65MARK20.71308631
66MAPK120.70208743
67EIF2AK20.69347059
68SGK30.69119516
69MAP2K30.68735045
70ABL10.68712709
71ERBB30.68187495
72MAPK70.67344648
73RIPK10.66600181
74GRK70.66550184
75FGFR40.66023425
76LRRK20.58791793
77TTN0.56838942
78MAP3K110.55103343
79SGK20.53659256
80GRK60.53500575
81TESK10.52020005
82SIK30.51986992
83CAMK1D0.51886930
84IRAK10.51860157
85CAMKK10.51310770
86PDK20.51253819
87SIK20.50234153
88IRAK20.48430809
89KSR10.47529487
90TESK20.45917442
91EPHA30.45675016
92FYN0.45249303
93PRKCQ0.45055101
94ITK0.44267355
95RPS6KA60.43281417
96TRIB30.39867162
97ARAF0.39145307
98PDPK10.38955706
99MAP3K100.38107220
100CAMK1G0.37560384
101MAP2K40.37318111
102PDK10.36775523
103RPS6KA20.36467629
104RAF10.35269164
105RET0.35231113
106CAMK40.34154426
107CDK60.34063420
108DDR20.33921759
109STK30.33489378
110RPS6KL10.32605220
111RPS6KC10.32605220
112DAPK20.31808993
113MAP3K120.30815261
114MAPKAPK20.30174985
115MAP3K10.29778407
116DAPK30.29398742
117MOS0.27213025
118IGF1R0.26629595
119MAP3K30.25873670
120ADRBK20.25730209
121PTK60.25222920
122KSR20.25178418
123MAPK40.25143267
124PRKCH0.18951143
125ALK0.18786932
126INSR0.18251332
127PDGFRB0.17869641

Predicted pathways (KEGG)

RankGene SetZ-score
1Staphylococcus aureus infection_Homo sapiens_hsa051503.81275964
2Leishmaniasis_Homo sapiens_hsa051403.76004645
3Toll-like receptor signaling pathway_Homo sapiens_hsa046202.91249994
4Graft-versus-host disease_Homo sapiens_hsa053322.90956752
5Legionellosis_Homo sapiens_hsa051342.70354051
6Pertussis_Homo sapiens_hsa051332.58580948
7NF-kappa B signaling pathway_Homo sapiens_hsa040642.53977919
8Tuberculosis_Homo sapiens_hsa051522.50076068
9* Osteoclast differentiation_Homo sapiens_hsa043802.44868581
10Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.35184290
11Malaria_Homo sapiens_hsa051442.30817384
12NOD-like receptor signaling pathway_Homo sapiens_hsa046212.30189658
13Rheumatoid arthritis_Homo sapiens_hsa053232.22314838
14Allograft rejection_Homo sapiens_hsa053302.10777942
15Asthma_Homo sapiens_hsa053102.09961860
16RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.09547631
17Lysosome_Homo sapiens_hsa041422.04027949
18Measles_Homo sapiens_hsa051621.98482381
19Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.94012757
20* Phagosome_Homo sapiens_hsa041451.92075439
21Salmonella infection_Homo sapiens_hsa051321.87722427
22B cell receptor signaling pathway_Homo sapiens_hsa046621.81529350
23Influenza A_Homo sapiens_hsa051641.80804498
24TNF signaling pathway_Homo sapiens_hsa046681.80583114
25Intestinal immune network for IgA production_Homo sapiens_hsa046721.78596245
26Type I diabetes mellitus_Homo sapiens_hsa049401.62443075
27Hematopoietic cell lineage_Homo sapiens_hsa046401.62429902
28African trypanosomiasis_Homo sapiens_hsa051431.56403097
29Chemokine signaling pathway_Homo sapiens_hsa040621.53369524
30Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.52756442
31Other glycan degradation_Homo sapiens_hsa005111.52291576
32Toxoplasmosis_Homo sapiens_hsa051451.48800299
33Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.48236847
34Herpes simplex infection_Homo sapiens_hsa051681.48024447
35Glycosaminoglycan degradation_Homo sapiens_hsa005311.45162333
36Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.44041806
37Shigellosis_Homo sapiens_hsa051311.31451305
38Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.31319742
39Antigen processing and presentation_Homo sapiens_hsa046121.28011115
40Apoptosis_Homo sapiens_hsa042101.27589834
41Jak-STAT signaling pathway_Homo sapiens_hsa046301.15151876
42Hepatitis B_Homo sapiens_hsa051611.06430442
43Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.05976237
44Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.05931740
45Complement and coagulation cascades_Homo sapiens_hsa046101.03251074
46Primary immunodeficiency_Homo sapiens_hsa053401.01701317
47Hepatitis C_Homo sapiens_hsa051601.01100212
48Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.00671971
49Viral myocarditis_Homo sapiens_hsa054161.00349509
50Amoebiasis_Homo sapiens_hsa051460.98370434
51* Leukocyte transendothelial migration_Homo sapiens_hsa046700.94166749
52Non-small cell lung cancer_Homo sapiens_hsa052230.86832857
53Autoimmune thyroid disease_Homo sapiens_hsa053200.86684109
54* AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.77965437
55Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.77803993
56T cell receptor signaling pathway_Homo sapiens_hsa046600.71585339
57Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.69896127
58Prion diseases_Homo sapiens_hsa050200.69621649
59Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.69095329
60Platelet activation_Homo sapiens_hsa046110.67823693
61Collecting duct acid secretion_Homo sapiens_hsa049660.66595664
62Acute myeloid leukemia_Homo sapiens_hsa052210.64703118
63Neurotrophin signaling pathway_Homo sapiens_hsa047220.61407165
64Caffeine metabolism_Homo sapiens_hsa002320.59622046
65Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.58062879
66GnRH signaling pathway_Homo sapiens_hsa049120.55775753
67Pancreatic cancer_Homo sapiens_hsa052120.55693744
68SNARE interactions in vesicular transport_Homo sapiens_hsa041300.54082002
69Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.54071021
70Chronic myeloid leukemia_Homo sapiens_hsa052200.52190914
71Epstein-Barr virus infection_Homo sapiens_hsa051690.51286696
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.50687535
73Phospholipase D signaling pathway_Homo sapiens_hsa040720.49108705
74Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.48338782
75Prolactin signaling pathway_Homo sapiens_hsa049170.45825916
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.44587896
77Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.42270419
78Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.39635480
79Phosphatidylinositol signaling system_Homo sapiens_hsa040700.39145805
80mTOR signaling pathway_Homo sapiens_hsa041500.38923196
81Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.38027441
82Type II diabetes mellitus_Homo sapiens_hsa049300.37637645
83Bladder cancer_Homo sapiens_hsa052190.36789009
84Sphingolipid metabolism_Homo sapiens_hsa006000.35585991
85Mineral absorption_Homo sapiens_hsa049780.35408303
86Endometrial cancer_Homo sapiens_hsa052130.34877642
87Regulation of actin cytoskeleton_Homo sapiens_hsa048100.34734189
88Transcriptional misregulation in cancer_Homo sapiens_hsa052020.33110976
89Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.32546289
90Galactose metabolism_Homo sapiens_hsa000520.32520032
91Endocytosis_Homo sapiens_hsa041440.31031000
92Viral carcinogenesis_Homo sapiens_hsa052030.30855905
93Estrogen signaling pathway_Homo sapiens_hsa049150.29737024
94Choline metabolism in cancer_Homo sapiens_hsa052310.29251127
95Dorso-ventral axis formation_Homo sapiens_hsa043200.28290747
96Inositol phosphate metabolism_Homo sapiens_hsa005620.27593758
97Proteoglycans in cancer_Homo sapiens_hsa052050.26376611
98VEGF signaling pathway_Homo sapiens_hsa043700.25919102
99Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.25844776
100Pentose and glucuronate interconversions_Homo sapiens_hsa000400.25297023
101Insulin resistance_Homo sapiens_hsa049310.25204490
102Small cell lung cancer_Homo sapiens_hsa052220.23818697
103* HIF-1 signaling pathway_Homo sapiens_hsa040660.22007046
104Renin-angiotensin system_Homo sapiens_hsa046140.17158840
105Vibrio cholerae infection_Homo sapiens_hsa051100.16875615
106Notch signaling pathway_Homo sapiens_hsa043300.16873345
107Steroid biosynthesis_Homo sapiens_hsa001000.15661433
108Carbohydrate digestion and absorption_Homo sapiens_hsa049730.15176042
109HTLV-I infection_Homo sapiens_hsa051660.14661689
110FoxO signaling pathway_Homo sapiens_hsa040680.14120063
111Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.06702018
112MAPK signaling pathway_Homo sapiens_hsa040100.05720179
113Renal cell carcinoma_Homo sapiens_hsa052110.05299987
114Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.04816732

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