DOCK8

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





Description: This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of gamma-delta T cell activation (GO:0046645)6.16384237
2antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.57612477
3antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.57612477
4antigen processing and presentation of endogenous antigen (GO:0019883)5.36013177
5negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.17121349
6negative regulation of cell killing (GO:0031342)5.17121349
7regulation of gamma-delta T cell differentiation (GO:0045586)4.90250068
8regulation of gamma-delta T cell activation (GO:0046643)4.65721065
9regulation of B cell receptor signaling pathway (GO:0050855)4.62061974
10antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.52682384
11positive regulation of B cell differentiation (GO:0045579)4.47910694
12detection of other organism (GO:0098543)4.28592656
13positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.24156125
14leukocyte aggregation (GO:0070486)4.19147946
15microglial cell activation (GO:0001774)4.17732640
16negative regulation of T cell mediated immunity (GO:0002710)4.17182196
17positive thymic T cell selection (GO:0045059)4.14687604
18negative T cell selection (GO:0043383)4.12732373
19negative thymic T cell selection (GO:0045060)4.10997261
20regulation of B cell differentiation (GO:0045577)4.09202178
21detection of molecule of bacterial origin (GO:0032490)4.08796615
22modulation by symbiont of host defense response (GO:0052031)4.07957858
23modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.07957858
24modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.07957858
25positive regulation by organism of defense response of other organism involved in symbiotic interact4.07957858
26modulation by symbiont of host immune response (GO:0052553)4.07957858
27positive regulation by symbiont of host defense response (GO:0052509)4.07957858
28negative regulation of lymphocyte mediated immunity (GO:0002707)4.04650332
29detection of bacterium (GO:0016045)3.99700461
30regulation of interferon-beta biosynthetic process (GO:0045357)3.92623973
31tolerance induction (GO:0002507)3.87053523
32B cell receptor signaling pathway (GO:0050853)3.86922499
33detection of external biotic stimulus (GO:0098581)3.86794291
34positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.72487122
35positive regulation of granulocyte differentiation (GO:0030854)3.61063663
36cellular extravasation (GO:0045123)3.57755537
37thymic T cell selection (GO:0045061)3.56176096
38negative regulation of leukocyte mediated immunity (GO:0002704)3.54665734
39T cell migration (GO:0072678)3.53534444
40regulation of interleukin-12 biosynthetic process (GO:0045075)3.52050125
41neutrophil activation involved in immune response (GO:0002283)3.51431008
42positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.51274272
43macrophage activation (GO:0042116)3.49749596
44T cell selection (GO:0045058)3.44801828
45positive T cell selection (GO:0043368)3.44285754
46response to interleukin-15 (GO:0070672)3.42870893
47detection of biotic stimulus (GO:0009595)3.41229333
48neutrophil activation (GO:0042119)3.39317814
49response to muramyl dipeptide (GO:0032495)3.38596601
50NIK/NF-kappaB signaling (GO:0038061)3.37911269
51interferon-gamma production (GO:0032609)3.31731576
52macrophage activation involved in immune response (GO:0002281)3.28426023
53negative regulation of phagocytosis (GO:0050765)3.27381348
54positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.24995054
55immunoglobulin mediated immune response (GO:0016064)3.24684266
56negative regulation of erythrocyte differentiation (GO:0045647)3.22310809
57regulation of tolerance induction (GO:0002643)3.18223617
58granulocyte activation (GO:0036230)3.17477460
59positive regulation of interferon-alpha production (GO:0032727)3.16599700
60positive regulation of mast cell activation (GO:0033005)3.16264145
61negative regulation of granulocyte differentiation (GO:0030853)3.14419538
62respiratory burst (GO:0045730)3.14004315
63regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.13894814
64defense response to protozoan (GO:0042832)3.13346777
65negative regulation of adaptive immune response based on somatic recombination of immune receptors b3.13136414
66Arp2/3 complex-mediated actin nucleation (GO:0034314)3.12743836
67JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)3.12425579
68regulation of mast cell degranulation (GO:0043304)3.10073603
69negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.09027010
70leukocyte cell-cell adhesion (GO:0007159)3.07207371
71regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.06629442
72myeloid leukocyte mediated immunity (GO:0002444)3.05914647
73myeloid dendritic cell activation (GO:0001773)3.04425789
74regulation of interferon-alpha production (GO:0032647)3.03837010
75positive regulation of antigen processing and presentation (GO:0002579)3.03688624
76leukocyte degranulation (GO:0043299)3.00570526
77mature B cell differentiation (GO:0002335)3.00476974
78response to peptidoglycan (GO:0032494)2.99589542
79regulation of T cell tolerance induction (GO:0002664)2.97543303
80antigen processing and presentation via MHC class Ib (GO:0002475)2.97259180
81negative regulation of adaptive immune response (GO:0002820)2.96815682
82regulation of mast cell activation (GO:0033003)2.96384877
83B cell mediated immunity (GO:0019724)2.96244579
84production of molecular mediator involved in inflammatory response (GO:0002532)2.94057137
85antigen receptor-mediated signaling pathway (GO:0050851)2.93316336
86B cell homeostasis (GO:0001782)2.92734058
87regulation of regulatory T cell differentiation (GO:0045589)2.91674834
88myeloid cell activation involved in immune response (GO:0002275)2.90714765
89negative regulation of interleukin-12 production (GO:0032695)2.90638540
90positive regulation of alpha-beta T cell proliferation (GO:0046641)2.90605315
91cellular response to interleukin-15 (GO:0071350)2.90084994
92regulation of myeloid leukocyte mediated immunity (GO:0002886)2.89696293
93regulation of mast cell activation involved in immune response (GO:0033006)2.87675727
94negative regulation of T-helper cell differentiation (GO:0045623)2.87589043
95negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.87589043
96regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.87483713
97regulation of alpha-beta T cell proliferation (GO:0046640)2.86766018
98lymphocyte homeostasis (GO:0002260)2.84966816
99regulation of T cell mediated cytotoxicity (GO:0001914)2.83486492
100regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.83256594
101myeloid dendritic cell differentiation (GO:0043011)2.82015345
102T cell homeostasis (GO:0043029)2.81331247
103germinal center formation (GO:0002467)2.79411291
104pinocytosis (GO:0006907)2.77760810
105T cell costimulation (GO:0031295)2.76201299
106positive regulation of interleukin-2 production (GO:0032743)2.74510146
107response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.72040461
108response to host immune response (GO:0052572)2.72040461
109lymphocyte costimulation (GO:0031294)2.70308146
110hepatocyte apoptotic process (GO:0097284)2.70130372
111T cell receptor signaling pathway (GO:0050852)2.68496771
112interferon-gamma-mediated signaling pathway (GO:0060333)2.65836896
113regulation of interleukin-2 biosynthetic process (GO:0045076)2.65637854
114positive regulation of histone deacetylation (GO:0031065)2.65069612
115response to type I interferon (GO:0034340)2.64323959
116mast cell activation (GO:0045576)2.63799602
117neutrophil mediated immunity (GO:0002446)2.63776116
118natural killer cell differentiation (GO:0001779)2.63464667
119response to fungus (GO:0009620)2.62225209
120cellular response to zinc ion (GO:0071294)2.62214977
121activated T cell proliferation (GO:0050798)2.61691041
122negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.61167314
123response to host (GO:0075136)2.60361538
124response to host defenses (GO:0052200)2.60361538
125response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.60361538
126regulation of T cell receptor signaling pathway (GO:0050856)2.59274099
127positive regulation of isotype switching (GO:0045830)2.58754801
128regulation of type I interferon-mediated signaling pathway (GO:0060338)2.58136431
129response to protozoan (GO:0001562)2.58017792
130regulation of response to interferon-gamma (GO:0060330)2.57845400
131positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.57227394
132cellular response to type I interferon (GO:0071357)2.56805160
133type I interferon signaling pathway (GO:0060337)2.56805160
134mannose metabolic process (GO:0006013)2.56261506

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human4.84827749
2FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.67196785
3STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.30563993
4IRF8_21731497_ChIP-ChIP_J774_Mouse3.83896988
5EGR1_19374776_ChIP-ChIP_THP-1_Human3.49868323
6MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.49524109
7E2F7_22180533_ChIP-Seq_HELA_Human3.41391690
8IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.23161363
9IRF8_27001747_Chip-Seq_BMDM_Mouse3.20946791
10* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.15585732
11MYC_22102868_ChIP-Seq_BL_Human3.04051690
12BP1_19119308_ChIP-ChIP_Hs578T_Human2.99607862
13MYB_21317192_ChIP-Seq_ERMYB_Mouse2.90789155
14NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.88119653
15STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.84972614
16SCL_19346495_ChIP-Seq_HPC-7_Human2.81044269
17IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.77465645
18* VDR_21846776_ChIP-Seq_THP-1_Human2.76040573
19NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.72481354
20RUNX_20019798_ChIP-Seq_JUKART_Human2.64051052
21* SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.61931223
22* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.53440823
23MYB_26560356_Chip-Seq_TH2_Human2.51960519
24MAF_26560356_Chip-Seq_TH1_Human2.40754494
25BRD4_27068464_Chip-Seq_AML-cells_Mouse2.35244568
26STAT4_19710469_ChIP-ChIP_TH1__Mouse2.33394343
27MYB_26560356_Chip-Seq_TH1_Human2.26109045
28VDR_24763502_ChIP-Seq_THP-1_Human2.19072230
29* SPI1_23547873_ChIP-Seq_NB4_Human2.15082949
30TCF7_22412390_ChIP-Seq_EML_Mouse2.13861752
31* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.12691260
32UTX_26944678_Chip-Seq_JUKART_Human2.10476886
33NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.10302810
34STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.09071236
35SMAD_19615063_ChIP-ChIP_OVARY_Human2.02807463
36* RUNX1_22412390_ChIP-Seq_EML_Mouse2.01167658
37E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.93993887
38ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.93722265
39SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.92305445
40* SPI1_23127762_ChIP-Seq_K562_Human1.83982660
41* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.80400862
42RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.76561393
43VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.70988065
44KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.70962243
45GATA1_22025678_ChIP-Seq_K562_Human1.65800770
46FOXM1_23109430_ChIP-Seq_U2OS_Human1.64151280
47GATA3_27048872_Chip-Seq_THYMUS_Human1.58744475
48PU_27001747_Chip-Seq_BMDM_Mouse1.57262779
49CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.56679090
50KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.53334612
51SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.51870762
52* MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.51124293
53BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.50123653
54ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.48981174
55KDM2B_26808549_Chip-Seq_DND41_Human1.47840663
56MAF_26560356_Chip-Seq_TH2_Human1.47185520
57* GATA2_22383799_ChIP-Seq_G1ME_Mouse1.42365604
58* PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.41902725
59FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.39217837
60KDM2B_26808549_Chip-Seq_SUP-B15_Human1.38286903
61PPARA_22158963_ChIP-Seq_LIVER_Mouse1.36383154
62TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.33929690
63* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.29252624
64* CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.26481964
65ELK3_25401928_ChIP-Seq_HUVEC_Human1.26256366
66GATA1_22383799_ChIP-Seq_G1ME_Mouse1.26090102
67* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.25728210
68* GATA1_19941827_ChIP-Seq_MEL_Mouse1.24961604
69VDR_24787735_ChIP-Seq_THP-1_Human1.21514477
70RXR_22158963_ChIP-Seq_LIVER_Mouse1.20093816
71NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.19952927
72GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.17770757
73* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.15634254
74GATA3_26560356_Chip-Seq_TH2_Human1.13843650
75STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.13414326
76NOTCH1_21737748_ChIP-Seq_TLL_Human1.13340250
77* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.12835114
78LXR_22158963_ChIP-Seq_LIVER_Mouse1.06128187
79VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.03824924
80THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.02721689
81* GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.01270297
82LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.01124817
83ELF1_17652178_ChIP-ChIP_JURKAT_Human0.99228108
84CIITA_25753668_ChIP-Seq_RAJI_Human0.96397827
85SMRT_27268052_Chip-Seq_Bcells_Human0.95655638
86* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.94049831
87* GATA2_19941826_ChIP-Seq_K562_Human0.93738934
88* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.92965705
89EGR1_23403033_ChIP-Seq_LIVER_Mouse0.92138319
90* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.92054167
91GATA1_19941826_ChIP-Seq_K562_Human0.91845985
92* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.90597126
93SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.89421797
94TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.89268310
95NCOR1_26117541_ChIP-Seq_K562_Human0.88863965
96PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.87854339
97RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.86406205
98KDM2B_26808549_Chip-Seq_JURKAT_Human0.85075919
99RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85004839
100KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.84324743
101ERG_20887958_ChIP-Seq_HPC-7_Mouse0.83380959
102GATA2_21666600_ChIP-Seq_HMVEC_Human0.82016679
103GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81717980
104PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.79412875
105* GATA1_19941827_ChIP-Seq_MEL86_Mouse0.78969146
106PU.1_20513432_ChIP-Seq_Bcells_Mouse0.78951988
107SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.76626083
108LXR_22292898_ChIP-Seq_THP-1_Human0.75362429
109E2F4_17652178_ChIP-ChIP_JURKAT_Human0.74688879
110GATA3_26560356_Chip-Seq_TH1_Human0.74088614
111IKZF1_21737484_ChIP-ChIP_HCT116_Human0.70325877
112FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.67217628
113RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.65945611
114BCL6_27268052_Chip-Seq_Bcells_Human0.63625490
115* SPI1_20517297_ChIP-Seq_HL60_Human0.63562876

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation3.79140821
2MP0003303_peritoneal_inflammation3.04047431
3MP0003436_decreased_susceptibility_to3.03130460
4MP0000685_abnormal_immune_system3.01800600
5* MP0001800_abnormal_humoral_immune2.94185721
6MP0005387_immune_system_phenotype2.92913977
7MP0001790_abnormal_immune_system2.92913977
8MP0005671_abnormal_response_to2.86987253
9MP0005000_abnormal_immune_tolerance2.62252690
10MP0002452_abnormal_antigen_presenting2.62149440
11MP0002419_abnormal_innate_immunity2.53012875
12MP0003300_gastrointestinal_ulcer2.52724209
13MP0002723_abnormal_immune_serum2.49932834
14MP0003763_abnormal_thymus_physiology2.46002756
15MP0002166_altered_tumor_susceptibility2.45719314
16MP0002420_abnormal_adaptive_immunity2.42134929
17MP0001819_abnormal_immune_cell2.40539716
18MP0005025_abnormal_response_to2.38879981
19MP0009785_altered_susceptibility_to2.38100869
20MP0002396_abnormal_hematopoietic_system2.34420501
21MP0005464_abnormal_platelet_physiology2.30950661
22MP0002398_abnormal_bone_marrow2.20641876
23MP0006082_CNS_inflammation2.11047448
24MP0002148_abnormal_hypersensitivity_rea2.06173384
25* MP0000716_abnormal_immune_system2.03416629
26MP0001873_stomach_inflammation2.02945360
27MP0002405_respiratory_system_inflammati2.00879088
28MP0008260_abnormal_autophagy1.94383365
29MP0004947_skin_inflammation1.91940977
30* MP0000689_abnormal_spleen_morphology1.89461584
31MP0000569_abnormal_digit_pigmentation1.86565141
32MP0004510_myositis1.86123674
33MP0009278_abnormal_bone_marrow1.85090587
34MP0002006_tumorigenesis1.84602744
35MP0004381_abnormal_hair_follicle1.84388609
36MP0005058_abnormal_lysosome_morphology1.83956970
37MP0002722_abnormal_immune_system1.82779464
38MP0010155_abnormal_intestine_physiology1.80387167
39MP0001845_abnormal_inflammatory_respons1.74833688
40MP0001853_heart_inflammation1.74739592
41MP0003191_abnormal_cellular_cholesterol1.71915299
42MP0004808_abnormal_hematopoietic_stem1.70913584
43* MP0002429_abnormal_blood_cell1.69572307
44MP0005451_abnormal_body_composition1.63431037
45MP0003724_increased_susceptibility_to1.63139325
46MP0005397_hematopoietic_system_phenotyp1.60956733
47MP0001545_abnormal_hematopoietic_system1.60956733
48MP0003172_abnormal_lysosome_physiology1.60506370
49MP0009333_abnormal_splenocyte_physiolog1.58465512
50MP0002138_abnormal_hepatobiliary_system1.58163662
51MP0000703_abnormal_thymus_morphology1.57585112
52MP0000465_gastrointestinal_hemorrhage1.56354260
53MP0009840_abnormal_foam_cell1.54639671
54MP0003183_abnormal_peptide_metabolism1.54483387
55MP0001533_abnormal_skeleton_physiology1.47391420
56MP0005174_abnormal_tail_pigmentation1.46040458
57MP0008469_abnormal_protein_level1.44466004
58MP0004883_abnormal_blood_vessel1.41723141
59MP0005310_abnormal_salivary_gland1.34000055
60MP0002933_joint_inflammation1.33582095
61MP0003866_abnormal_defecation1.26823984
62MP0002132_abnormal_respiratory_system1.21663824
63MP0005360_urolithiasis1.21276213
64MP0001851_eye_inflammation1.15723799
65MP0000858_altered_metastatic_potential1.11632995
66MP0003448_altered_tumor_morphology1.10753939
67MP0005076_abnormal_cell_differentiation1.09640913
68MP0008057_abnormal_DNA_replication1.07054165
69MP0010307_abnormal_tumor_latency1.06750390
70MP0010352_gastrointestinal_tract_polyps1.05600100
71MP0000609_abnormal_liver_physiology1.01915370
72MP0003690_abnormal_glial_cell1.01683867
73MP0009764_decreased_sensitivity_to1.01301090
74MP0000490_abnormal_crypts_of1.00296039
75MP0003566_abnormal_cell_adhesion0.99550255
76MP0002998_abnormal_bone_remodeling0.95106186
77MP0005164_abnormal_response_to0.93914021
78MP0009763_increased_sensitivity_to0.92491958
79MP0002277_abnormal_respiratory_mucosa0.87558435
80MP0002254_reproductive_system_inflammat0.87128919
81MP0003252_abnormal_bile_duct0.82609774
82MP0002019_abnormal_tumor_incidence0.81958623
83MP0002928_abnormal_bile_duct0.81195601
84MP0000343_altered_response_to0.81030642
85MP0005365_abnormal_bile_salt0.80163231
86MP0000604_amyloidosis0.79827517
87MP0004130_abnormal_muscle_cell0.79508839
88MP0000015_abnormal_ear_pigmentation0.79136710
89MP0005023_abnormal_wound_healing0.78804135
90MP0001986_abnormal_taste_sensitivity0.78749374
91MP0005075_abnormal_melanosome_morpholog0.78641426
92MP0003656_abnormal_erythrocyte_physiolo0.77109533
93MP0002139_abnormal_hepatobiliary_system0.76656022
94MP0002136_abnormal_kidney_physiology0.75681715
95MP0000249_abnormal_blood_vessel0.73162125
96MP0003453_abnormal_keratinocyte_physiol0.72671554
97MP0008961_abnormal_basal_metabolism0.72225779
98MP0003787_abnormal_imprinting0.70557618
99MP0000598_abnormal_liver_morphology0.69510791
100MP0003221_abnormal_cardiomyocyte_apopto0.69273071
101MP0001663_abnormal_digestive_system0.69191570
102MP0010329_abnormal_lipoprotein_level0.68700638
103MP0000371_diluted_coat_color0.67597306
104MP0002009_preneoplasia0.66100344
105MP0003075_altered_response_to0.66086613
106MP0005166_decreased_susceptibility_to0.65435195
107MP0008004_abnormal_stomach_pH0.65269308
108MP0003828_pulmonary_edema0.61030289
109MP0003091_abnormal_cell_migration0.60776249
110MP0002877_abnormal_melanocyte_morpholog0.59944931
111MP0009765_abnormal_xenobiotic_induced0.59692342
112MP0003795_abnormal_bone_structure0.58061054
113MP0003045_fibrosis0.57667883
114MP0005390_skeleton_phenotype0.55147193
115MP0004484_altered_response_of0.54802519
116MP0009643_abnormal_urine_homeostasis0.54541875
117MP0009115_abnormal_fat_cell0.54087490
118MP0002332_abnormal_exercise_endurance0.53178820
119MP0008874_decreased_physiological_sensi0.52123002
120MP0005376_homeostasis/metabolism_phenot0.46082541

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)5.22552189
2Eczematoid dermatitis (HP:0000976)5.13748954
3Recurrent bacterial skin infections (HP:0005406)4.98690112
4* Recurrent fungal infections (HP:0002841)4.12312650
5Recurrent gram-negative bacterial infections (HP:0005420)4.10058496
6* Recurrent viral infections (HP:0004429)4.01135328
7IgM deficiency (HP:0002850)3.87774813
8Abnormal delayed hypersensitivity skin test (HP:0002963)3.72100988
9Recurrent skin infections (HP:0001581)3.69131662
10Colitis (HP:0002583)3.56039793
11T lymphocytopenia (HP:0005403)3.55649000
12Myositis (HP:0100614)3.54910762
13Inflammation of the large intestine (HP:0002037)3.50589073
14Panhypogammaglobulinemia (HP:0003139)3.49797511
15Chronic otitis media (HP:0000389)3.49619906
16Elevated erythrocyte sedimentation rate (HP:0003565)3.49132099
17Abnormality of T cell number (HP:0011839)3.48377339
18Recurrent cutaneous fungal infections (HP:0011370)3.43857036
19Chronic mucocutaneous candidiasis (HP:0002728)3.43857036
20Meningitis (HP:0001287)3.41014563
21Cellulitis (HP:0100658)3.38658829
22Gastrointestinal inflammation (HP:0004386)3.36517079
23Autoimmune thrombocytopenia (HP:0001973)3.36293742
24Parkinsonism with favorable response to dopaminergic medication (HP:0002548)3.35085150
25Mediastinal lymphadenopathy (HP:0100721)3.30646685
26Abnormality of the fingertips (HP:0001211)3.25100549
27Keratoconjunctivitis (HP:0001096)3.18067304
28Abnormality of macrophages (HP:0004311)3.16171163
29Systemic lupus erythematosus (HP:0002725)3.11441691
30Recurrent bronchitis (HP:0002837)3.10939721
31Agammaglobulinemia (HP:0004432)3.09354222
32Spontaneous hematomas (HP:0007420)3.09299613
33Thyroiditis (HP:0100646)3.05339442
34Abnormality of T cells (HP:0002843)3.02131420
35Pustule (HP:0200039)3.01499797
36Chronic obstructive pulmonary disease (HP:0006510)2.98420133
37Obstructive lung disease (HP:0006536)2.98420133
38Periodontitis (HP:0000704)2.97399561
39Nasal polyposis (HP:0100582)2.96713092
40B lymphocytopenia (HP:0010976)2.89050421
41Abnormality of B cell number (HP:0010975)2.89050421
42Gingival bleeding (HP:0000225)2.85682759
43Prolonged bleeding time (HP:0003010)2.84199907
44Gingivitis (HP:0000230)2.83588148
45Increased IgE level (HP:0003212)2.76094295
46Autoimmune hemolytic anemia (HP:0001890)2.74111540
47Stomatitis (HP:0010280)2.72889316
48Orchitis (HP:0100796)2.72225681
49* Vasculitis (HP:0002633)2.70625346
50Myocardial infarction (HP:0001658)2.69472148
51Epistaxis (HP:0000421)2.67215198
52Impaired platelet aggregation (HP:0003540)2.63703260
53Abnormal platelet function (HP:0011869)2.63703260
54Vacuolated lymphocytes (HP:0001922)2.62200111
55Arterial thrombosis (HP:0004420)2.61334348
56Abnormality of the nasal mucosa (HP:0000433)2.61267577
57Abnormality of T cell physiology (HP:0011840)2.57634359
58Osteomyelitis (HP:0002754)2.57373781
59Optic neuritis (HP:0100653)2.54832040
60Retrobulbar optic neuritis (HP:0100654)2.54832040
61Thrombocytosis (HP:0001894)2.54067165
62Hematochezia (HP:0002573)2.50241251
63Abnormal platelet volume (HP:0011876)2.48852869
64Severe combined immunodeficiency (HP:0004430)2.48586058
65Lymphopenia (HP:0001888)2.48200727
66Chronic diarrhea (HP:0002028)2.43935469
67Viral hepatitis (HP:0006562)2.43867440
68Interstitial pulmonary disease (HP:0006530)2.43860881
69Abnormality of cells of the lymphoid lineage (HP:0012140)2.42477854
70Combined immunodeficiency (HP:0005387)2.41848819
71Anorexia (HP:0002039)2.39172093
72Petechiae (HP:0000967)2.39063133
73Encephalitis (HP:0002383)2.37610212
74Pulmonary infiltrates (HP:0002113)2.36310314
75* Leukocytosis (HP:0001974)2.31843455
76Increased IgM level (HP:0003496)2.31087185
77Gangrene (HP:0100758)2.28836584
78Slow saccadic eye movements (HP:0000514)2.28287191
79Abnormality of the pleura (HP:0002103)2.25270537
80Hypochromic anemia (HP:0001931)2.24913441
81Dysostosis multiplex (HP:0000943)2.24314291
82Glomerulonephritis (HP:0000099)2.23805146
83Thoracic kyphosis (HP:0002942)2.23711607
84Gastrointestinal stroma tumor (HP:0100723)2.23330483
85Sepsis (HP:0100806)2.22421216
86Hemoptysis (HP:0002105)2.20545667
87IgA deficiency (HP:0002720)2.20341697
88* Granulocytopenia (HP:0001913)2.20218205
89Peritonitis (HP:0002586)2.18743536
90Recurrent sinusitis (HP:0011108)2.17972742
91Chest pain (HP:0100749)2.16377080
92Urticaria (HP:0001025)2.16345996
93IgG deficiency (HP:0004315)2.13736702
94Episodic fever (HP:0001954)2.13524689
95Amaurosis fugax (HP:0100576)2.13428886
96Increased cerebral lipofuscin (HP:0011813)2.11299970
97Hypochromic microcytic anemia (HP:0004840)2.09482685
98* Verrucae (HP:0200043)2.08564267
99* Papilloma (HP:0012740)2.08564267
100Abnormality of the thoracic spine (HP:0100711)2.07824946
101Pulmonary embolism (HP:0002204)2.07465337
102Acute hepatic failure (HP:0006554)2.07073691
103Joint hemorrhage (HP:0005261)2.06721297
104Hypoplasia of the thymus (HP:0000778)2.06204714
105Abnormality of the peritoneum (HP:0002585)2.05848301
106Increased mean platelet volume (HP:0011877)2.03796934
107Microcytic anemia (HP:0001935)2.00692069
108Complement deficiency (HP:0004431)2.00483404
109Menorrhagia (HP:0000132)2.00224462
110Abnormality of the prostate (HP:0008775)1.99268033
111Increased density of long bones (HP:0006392)1.98957179
112Hypergammaglobulinemia (HP:0010702)1.98690983
113Osteolytic defects of the hand bones (HP:0009699)1.98622581
114Osteolytic defects of the phalanges of the hand (HP:0009771)1.98622581
115Gastrointestinal infarctions (HP:0005244)1.97897926
116Abnormality of the endocardium (HP:0004306)1.97804686
117* Eosinophilia (HP:0001880)1.97654277
118Glomerulopathy (HP:0100820)1.97413144
119Fatigue (HP:0012378)1.96350127
120Papilledema (HP:0001085)1.96197600
121Keratoconjunctivitis sicca (HP:0001097)1.96176225
122Skin rash (HP:0000988)1.95498219
123Mucopolysacchariduria (HP:0008155)1.93781794
124Urinary glycosaminoglycan excretion (HP:0003541)1.93781794
125Vertigo (HP:0002321)1.91100296
126Recurrent pneumonia (HP:0006532)1.90147716
127* Skin ulcer (HP:0200042)1.89436170
128Lymphoma (HP:0002665)1.88319521
129Amyloidosis (HP:0011034)1.87210266
130Aplasia/Hypoplasia of the thymus (HP:0010515)1.85547928
131* Abnormality of eosinophils (HP:0001879)1.85101325

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K14.90174778
2TYK22.89327024
3TXK2.75075970
4MAP3K142.40691513
5JAK32.37958861
6IRAK42.35799832
7PRPF4B2.31309648
8STK102.31162129
9TAOK32.16733446
10BLK2.15693722
11GRK62.10746577
12ZAP702.10663256
13KIT2.07756513
14ERN12.04646303
15JAK12.03517128
16EEF2K1.98961308
17MAP3K101.98687890
18CSF1R1.97230132
19BTK1.95557011
20TBK11.94292858
21TGFBR21.87901473
22ITK1.84460680
23EPHB11.75607508
24FGFR41.75178817
25IKBKE1.72208802
26SYK1.71209822
27IRAK31.70930063
28RIPK41.67117651
29CSK1.60867418
30TRIB31.56796286
31PKN21.56524513
32HCK1.55661081
33MAP3K131.53879716
34TEC1.52475371
35CDK121.46766205
36IKBKB1.44973676
37FGFR31.39027561
38LCK1.38559841
39FES1.37649477
40CAMK1D1.37196248
41BMPR21.37012136
42SIK21.28451768
43MAP2K31.28421524
44LRRK21.24031723
45PIM11.15457041
46PTK61.13875837
47JAK21.09313470
48CAMK1G1.08316972
49CLK11.07534649
50CHUK1.06882984
51IRAK11.06513464
52MAP3K11.04126315
53FLT31.03255518
54RPS6KA41.01565476
55YES11.01295817
56LYN0.99928341
57CAMKK20.94339676
58TTN0.91849205
59MARK20.91279639
60MARK30.90697460
61CDK60.87205899
62TAOK10.86701691
63KSR20.85987662
64TRPM70.85524056
65NEK90.84542336
66CDK40.79592681
67MAP3K20.78109028
68STK40.77622055
69MAP3K110.77345254
70SIK10.76235189
71PRKCQ0.73745629
72SGK20.71111220
73IRAK20.69567533
74NLK0.68738156
75WNK10.67459246
76PTK2B0.63820297
77MAP3K60.60484297
78CAMKK10.60238992
79MAP3K70.59613753
80EPHA30.59509340
81CDK90.58730977
82CDC42BPA0.58603239
83NEK20.58262714
84PDPK10.54550652
85MAPK110.52098664
86HIPK20.52067203
87MATK0.51713924
88MAPK40.51385266
89TNK20.51049084
90PRKCH0.49556708
91STK110.49474489
92PDK10.49244693
93SGK30.48621842
94RET0.47591588
95MAP3K80.47551407
96FRK0.47405188
97EGFR0.46830329
98MAP3K50.45537997
99BRD40.44701178
100RAF10.44282825
101GRK70.43722866
102PRKAA20.43647815
103MAPKAPK20.43482125
104RPS6KA60.43324806
105KDR0.43312344
106ABL10.41716742
107PAK40.39705860
108CDK190.39197926
109STK240.38946838
110ALK0.37745732
111MAPK120.37627158
112CAMK40.36359546
113PRKD20.36318642
114STK30.34923951
115SMG10.34399419
116PDGFRB0.34127925
117MELK0.33585441
118RIPK10.33471556
119MAP3K30.33027639
120TAOK20.33018402
121RPS6KL10.32608433
122RPS6KC10.32608433
123FGR0.31840982
124SIK30.29875565
125MAPK70.29545338
126FYN0.28094504
127PIK3CG0.28038731
128TESK20.27234081
129MST40.26555112
130MAPK30.26002664

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.37193026
2B cell receptor signaling pathway_Homo sapiens_hsa046622.88319709
3Leishmaniasis_Homo sapiens_hsa051402.84611253
4Staphylococcus aureus infection_Homo sapiens_hsa051502.80050442
5Osteoclast differentiation_Homo sapiens_hsa043802.66451863
6NF-kappa B signaling pathway_Homo sapiens_hsa040642.64877986
7Intestinal immune network for IgA production_Homo sapiens_hsa046722.32213824
8Measles_Homo sapiens_hsa051622.24320491
9Antigen processing and presentation_Homo sapiens_hsa046122.15342857
10Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.12235663
11T cell receptor signaling pathway_Homo sapiens_hsa046602.05696393
12Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.03197533
13Hematopoietic cell lineage_Homo sapiens_hsa046401.98695936
14Type I diabetes mellitus_Homo sapiens_hsa049401.92358816
15Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.87654514
16Toll-like receptor signaling pathway_Homo sapiens_hsa046201.87150648
17Toxoplasmosis_Homo sapiens_hsa051451.69441289
18NOD-like receptor signaling pathway_Homo sapiens_hsa046211.66690844
19RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.61319799
20Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.58961196
21Other glycan degradation_Homo sapiens_hsa005111.58900087
22Jak-STAT signaling pathway_Homo sapiens_hsa046301.57461838
23Acute myeloid leukemia_Homo sapiens_hsa052211.53408084
24Tuberculosis_Homo sapiens_hsa051521.53210335
25Glycosaminoglycan degradation_Homo sapiens_hsa005311.48319134
26Herpes simplex infection_Homo sapiens_hsa051681.47844542
27Chemokine signaling pathway_Homo sapiens_hsa040621.46547313
28Pertussis_Homo sapiens_hsa051331.46206999
29Caffeine metabolism_Homo sapiens_hsa002321.45909295
30Influenza A_Homo sapiens_hsa051641.43028308
31Allograft rejection_Homo sapiens_hsa053301.39525913
32Leukocyte transendothelial migration_Homo sapiens_hsa046701.38230142
33Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.37899056
34Apoptosis_Homo sapiens_hsa042101.36430565
35Chronic myeloid leukemia_Homo sapiens_hsa052201.36430363
36Graft-versus-host disease_Homo sapiens_hsa053321.35603469
37Legionellosis_Homo sapiens_hsa051341.33821514
38Hepatitis B_Homo sapiens_hsa051611.32617773
39TNF signaling pathway_Homo sapiens_hsa046681.32045644
40Malaria_Homo sapiens_hsa051441.20942675
41Pancreatic cancer_Homo sapiens_hsa052121.20049362
42Shigellosis_Homo sapiens_hsa051311.18615047
43Complement and coagulation cascades_Homo sapiens_hsa046101.16202928
44Viral myocarditis_Homo sapiens_hsa054161.14398040
45Platelet activation_Homo sapiens_hsa046111.12109538
46Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.01618301
47Lysine degradation_Homo sapiens_hsa003101.00453332
48Lysosome_Homo sapiens_hsa041421.00414498
49Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.98112633
50Transcriptional misregulation in cancer_Homo sapiens_hsa052020.95119973
51ABC transporters_Homo sapiens_hsa020100.94134920
52Hepatitis C_Homo sapiens_hsa051600.93988865
53Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.89701178
54Dorso-ventral axis formation_Homo sapiens_hsa043200.89335790
55AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.89279024
56Asthma_Homo sapiens_hsa053100.89111873
57Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.87658978
58Non-small cell lung cancer_Homo sapiens_hsa052230.86187321
59Small cell lung cancer_Homo sapiens_hsa052220.82845961
60Neurotrophin signaling pathway_Homo sapiens_hsa047220.78603009
61Epstein-Barr virus infection_Homo sapiens_hsa051690.78402861
62Viral carcinogenesis_Homo sapiens_hsa052030.77553727
63Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.76884679
64Salmonella infection_Homo sapiens_hsa051320.76562414
65Insulin resistance_Homo sapiens_hsa049310.76529673
66Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.75894553
67Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.70875280
68HTLV-I infection_Homo sapiens_hsa051660.70435635
69Prolactin signaling pathway_Homo sapiens_hsa049170.70298033
70Autoimmune thyroid disease_Homo sapiens_hsa053200.67737806
71Endometrial cancer_Homo sapiens_hsa052130.64482904
72Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.63853029
73Primary bile acid biosynthesis_Homo sapiens_hsa001200.61875016
74Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.61725197
75Choline metabolism in cancer_Homo sapiens_hsa052310.60560242
76Phospholipase D signaling pathway_Homo sapiens_hsa040720.59692105
77Carbohydrate digestion and absorption_Homo sapiens_hsa049730.59387311
78Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.58088034
79VEGF signaling pathway_Homo sapiens_hsa043700.57254704
80GnRH signaling pathway_Homo sapiens_hsa049120.55524161
81Pentose and glucuronate interconversions_Homo sapiens_hsa000400.54960807
82Non-homologous end-joining_Homo sapiens_hsa034500.54850388
83Adipocytokine signaling pathway_Homo sapiens_hsa049200.51765343
84Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.51504906
85Colorectal cancer_Homo sapiens_hsa052100.50875637
86Notch signaling pathway_Homo sapiens_hsa043300.50720852
87Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.50154306
88FoxO signaling pathway_Homo sapiens_hsa040680.49363840
89SNARE interactions in vesicular transport_Homo sapiens_hsa041300.46906647
90African trypanosomiasis_Homo sapiens_hsa051430.46054706
91MAPK signaling pathway_Homo sapiens_hsa040100.44685722
92ErbB signaling pathway_Homo sapiens_hsa040120.44137109
93Systemic lupus erythematosus_Homo sapiens_hsa053220.43821024
94Regulation of actin cytoskeleton_Homo sapiens_hsa048100.42687296
95Rheumatoid arthritis_Homo sapiens_hsa053230.42379088
96Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.41251462
97Inositol phosphate metabolism_Homo sapiens_hsa005620.40739694
98Glioma_Homo sapiens_hsa052140.40234154
99Phagosome_Homo sapiens_hsa041450.39902557
100Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.39520156
101Phosphatidylinositol signaling system_Homo sapiens_hsa040700.39465357
102Endocytosis_Homo sapiens_hsa041440.37396698
103Amoebiasis_Homo sapiens_hsa051460.37099927
104Prostate cancer_Homo sapiens_hsa052150.36350672
105mTOR signaling pathway_Homo sapiens_hsa041500.35489172
106MicroRNAs in cancer_Homo sapiens_hsa052060.35280768
107Pentose phosphate pathway_Homo sapiens_hsa000300.34772713
108Glycerophospholipid metabolism_Homo sapiens_hsa005640.34767521
109HIF-1 signaling pathway_Homo sapiens_hsa040660.34187717
110Long-term potentiation_Homo sapiens_hsa047200.34052870
111Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.33069693
112Drug metabolism - other enzymes_Homo sapiens_hsa009830.31205603
113Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.30616743
114Regulation of autophagy_Homo sapiens_hsa041400.29984558
115Renin-angiotensin system_Homo sapiens_hsa046140.29153450
116Estrogen signaling pathway_Homo sapiens_hsa049150.29077292
117p53 signaling pathway_Homo sapiens_hsa041150.26792081
118Proteoglycans in cancer_Homo sapiens_hsa052050.26155139
119Renal cell carcinoma_Homo sapiens_hsa052110.25271566
120Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.25253431
121Type II diabetes mellitus_Homo sapiens_hsa049300.25252670
122Sphingolipid signaling pathway_Homo sapiens_hsa040710.24985974

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