JAK1

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 membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta and interferon-gamma signal transduction. Alternative splicing results in multiple transcript variants. 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)6.82149763
2antigen processing and presentation of endogenous peptide antigen (GO:0002483)6.26728672
3antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)6.26728672
4negative regulation of cell killing (GO:0031342)6.08294634
5negative regulation of leukocyte mediated cytotoxicity (GO:0001911)6.08294634
6antigen processing and presentation of endogenous antigen (GO:0019883)5.83404168
7negative T cell selection (GO:0043383)5.69440582
8negative thymic T cell selection (GO:0045060)5.55263782
9regulation of gamma-delta T cell differentiation (GO:0045586)5.48035980
10positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)5.17336210
11positive thymic T cell selection (GO:0045059)5.12036612
12regulation of gamma-delta T cell activation (GO:0046643)5.11202930
13interferon-gamma production (GO:0032609)4.92187163
14antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.90598613
15thymic T cell selection (GO:0045061)4.73269583
16positive T cell selection (GO:0043368)4.70986191
17regulation of B cell receptor signaling pathway (GO:0050855)4.64784629
18T cell migration (GO:0072678)4.51927886
19regulation of isotype switching to IgG isotypes (GO:0048302)4.44522246
20* response to interleukin-15 (GO:0070672)4.43253094
21T cell selection (GO:0045058)4.43062430
22regulation of T cell tolerance induction (GO:0002664)4.18380502
23positive regulation of interleukin-2 biosynthetic process (GO:0045086)4.09924151
24regulation of interleukin-12 biosynthetic process (GO:0045075)4.05000783
25leukocyte aggregation (GO:0070486)3.86378557
26modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.78676010
27positive regulation by organism of defense response of other organism involved in symbiotic interact3.78676010
28modulation by symbiont of host immune response (GO:0052553)3.78676010
29positive regulation by symbiont of host defense response (GO:0052509)3.78676010
30modulation by symbiont of host defense response (GO:0052031)3.78676010
31modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.78676010
32T cell costimulation (GO:0031295)3.71436871
33JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)3.69388720
34lymphocyte costimulation (GO:0031294)3.65461153
35T cell receptor signaling pathway (GO:0050852)3.60143101
36macrophage activation involved in immune response (GO:0002281)3.54470352
37regulation of B cell differentiation (GO:0045577)3.53272210
38activated T cell proliferation (GO:0050798)3.53184201
39* cellular response to interleukin-15 (GO:0071350)3.51213091
40leukocyte cell-cell adhesion (GO:0007159)3.47748308
41regulation of natural killer cell mediated immunity (GO:0002715)3.46745118
42regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.46745118
43regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.46568658
44positive regulation of isotype switching (GO:0045830)3.45593892
45regulation of alpha-beta T cell proliferation (GO:0046640)3.43301659
46B cell receptor signaling pathway (GO:0050853)3.37861278
47antigen receptor-mediated signaling pathway (GO:0050851)3.37309362
48detection of other organism (GO:0098543)3.37237302
49antigen processing and presentation via MHC class Ib (GO:0002475)3.36968705
50positive regulation of tolerance induction (GO:0002645)3.31937728
51regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.31056570
52neutrophil activation involved in immune response (GO:0002283)3.30007491
53tolerance induction (GO:0002507)3.25970394
54negative regulation of interleukin-12 production (GO:0032695)3.25945278
55detection of molecule of bacterial origin (GO:0032490)3.23914553
56positive regulation of natural killer cell differentiation (GO:0032825)3.22541705
57NIK/NF-kappaB signaling (GO:0038061)3.22253187
58leukocyte tethering or rolling (GO:0050901)3.20600368
59Arp2/3 complex-mediated actin nucleation (GO:0034314)3.20465686
60positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)3.19663814
61positive regulation of natural killer cell mediated immunity (GO:0002717)3.19663814
62positive regulation of interleukin-2 production (GO:0032743)3.17516542
63positive regulation of alpha-beta T cell proliferation (GO:0046641)3.16588066
64positive regulation of B cell differentiation (GO:0045579)3.15610857
65regulation of tolerance induction (GO:0002643)3.15536807
66negative regulation of T cell mediated immunity (GO:0002710)3.14763192
67detection of bacterium (GO:0016045)3.11586581
68detection of external biotic stimulus (GO:0098581)3.08561398
69natural killer cell differentiation (GO:0001779)3.04960739
70natural killer cell activation (GO:0030101)3.03272525
71positive regulation of DNA recombination (GO:0045911)3.02799087
72regulation of T cell receptor signaling pathway (GO:0050856)2.99440477
73response to muramyl dipeptide (GO:0032495)2.96969481
74heterotypic cell-cell adhesion (GO:0034113)2.95674212
75* interferon-gamma-mediated signaling pathway (GO:0060333)2.93982601
76* regulation of response to interferon-gamma (GO:0060330)2.93824929
77* response to type I interferon (GO:0034340)2.93662628
78positive regulation of immunoglobulin mediated immune response (GO:0002891)2.93575914
79positive regulation of B cell mediated immunity (GO:0002714)2.93575914
80response to peptidoglycan (GO:0032494)2.93459914
81regulation of interferon-beta biosynthetic process (GO:0045357)2.92231071
82regulation of leukocyte mediated cytotoxicity (GO:0001910)2.91385552
83regulation of isotype switching (GO:0045191)2.91089481
84growth hormone receptor signaling pathway (GO:0060396)2.90273133
85* regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.85955482
86mast cell activation (GO:0045576)2.85721402
87lymphocyte migration (GO:0072676)2.84421845
88* type I interferon signaling pathway (GO:0060337)2.84387723
89* cellular response to type I interferon (GO:0071357)2.84387723
90germinal center formation (GO:0002467)2.84010408
91positive regulation of humoral immune response (GO:0002922)2.80749011
92negative regulation of erythrocyte differentiation (GO:0045647)2.79173621
93JAK-STAT cascade (GO:0007259)2.78731120
94positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.78697334
95regulation of interleukin-2 biosynthetic process (GO:0045076)2.78508746
96T cell proliferation (GO:0042098)2.78316472
97cellular extravasation (GO:0045123)2.78298621
98myeloid dendritic cell activation (GO:0001773)2.78129391
99negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.77922594
100negative regulation of T-helper cell differentiation (GO:0045623)2.76788352
101negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.76788352
102regulation of cell killing (GO:0031341)2.76356096
103positive regulation of lamellipodium assembly (GO:0010592)2.75597015
104macrophage activation (GO:0042116)2.74610492
105positive regulation of granulocyte differentiation (GO:0030854)2.73434761
106cellular defense response (GO:0006968)2.72494938
107negative regulation of lymphocyte mediated immunity (GO:0002707)2.71913798
108regulation of T cell mediated cytotoxicity (GO:0001914)2.71810148
109response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.71446795
110response to host (GO:0075136)2.71446795
111response to host defenses (GO:0052200)2.71446795
112immune response-activating cell surface receptor signaling pathway (GO:0002429)2.70449931
113alpha-beta T cell activation (GO:0046631)2.70267384
114regulation of necroptotic process (GO:0060544)2.69148136
115cellular response to ethanol (GO:0071361)2.69077334
116interferon-gamma secretion (GO:0072643)2.67810467
117megakaryocyte development (GO:0035855)2.67296779
118neutrophil activation (GO:0042119)2.66978383
119positive regulation of leukocyte mediated cytotoxicity (GO:0001912)2.66973237
120positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.66691309
121response to host immune response (GO:0052572)2.65332069
122response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.65332069
123positive regulation of immunoglobulin production (GO:0002639)2.65142691
124regulation of regulatory T cell differentiation (GO:0045589)2.64546223
125regulation of immunoglobulin mediated immune response (GO:0002889)2.64105160
126negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.63109187
127response to laminar fluid shear stress (GO:0034616)2.62522428
128regulation of B cell mediated immunity (GO:0002712)2.61861738
129angiogenesis involved in wound healing (GO:0060055)2.61766927
130detection of biotic stimulus (GO:0009595)2.61519130
131myeloid cell activation involved in immune response (GO:0002275)2.59965314
132microglial cell activation (GO:0001774)2.59643003
133lipopolysaccharide-mediated signaling pathway (GO:0031663)2.59641809
134regulation of dendritic cell antigen processing and presentation (GO:0002604)2.58557892
135T cell homeostasis (GO:0043029)2.57853786
136positive regulation of histone deacetylation (GO:0031065)2.57535265
137negative regulation of leukocyte mediated immunity (GO:0002704)2.57409652
138hepatocyte apoptotic process (GO:0097284)2.55911870
139positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.55071367
140negative regulation of adaptive immune response based on somatic recombination of immune receptors b2.54400965
141immunoglobulin mediated immune response (GO:0016064)2.52312202
142positive regulation of T cell mediated cytotoxicity (GO:0001916)2.51782639
143granulocyte activation (GO:0036230)2.50728895
144negative regulation of adaptive immune response (GO:0002820)2.49921329
145regulation of T-helper 2 cell differentiation (GO:0045628)2.47022912
146negative regulation of type 2 immune response (GO:0002829)2.46054923
147phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.45735445
148defense response to protozoan (GO:0042832)2.45622810

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* FOXP3_17237761_ChIP-ChIP_TREG_Mouse6.28435122
2STAT6_20620947_ChIP-Seq_CD4_POS_T_Human5.91626869
3IRF8_22096565_ChIP-ChIP_GC-B_Human4.92910407
4* RUNX_20019798_ChIP-Seq_JUKART_Human3.57175090
5* STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.52684982
6IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.33846708
7* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.33803881
8BP1_19119308_ChIP-ChIP_Hs578T_Human3.25695151
9MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.25035361
10IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.18045609
11* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse3.16765208
12IRF8_21731497_ChIP-ChIP_J774_Mouse2.87309994
13EGR1_19374776_ChIP-ChIP_THP-1_Human2.87026962
14MYB_26560356_Chip-Seq_TH2_Human2.76500740
15SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.72322556
16MYC_22102868_ChIP-Seq_BL_Human2.60897268
17IRF8_27001747_Chip-Seq_BMDM_Mouse2.58627099
18STAT4_19710469_ChIP-ChIP_TH1__Mouse2.57406165
19NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.55982440
20* MAF_26560356_Chip-Seq_TH1_Human2.46634238
21MYB_21317192_ChIP-Seq_ERMYB_Mouse2.35172036
22SCL_19346495_ChIP-Seq_HPC-7_Human2.32133697
23SMAD_19615063_ChIP-ChIP_OVARY_Human2.31713348
24* MYB_26560356_Chip-Seq_TH1_Human2.28654626
25GATA1_22025678_ChIP-Seq_K562_Human2.22999817
26UTX_26944678_Chip-Seq_JUKART_Human2.17056280
27BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.15522898
28TCF7_22412390_ChIP-Seq_EML_Mouse2.05346956
29SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.03434033
30RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.01788005
31VDR_21846776_ChIP-Seq_THP-1_Human1.89439278
32RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.88994520
33* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.87164851
34GATA3_27048872_Chip-Seq_THYMUS_Human1.84849965
35E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.79622897
36STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.77137325
37RUNX1_22412390_ChIP-Seq_EML_Mouse1.76790124
38BRD4_27068464_Chip-Seq_AML-cells_Mouse1.74187465
39* SPI1_23127762_ChIP-Seq_K562_Human1.73927664
40* KDM2B_26808549_Chip-Seq_DND41_Human1.73407166
41VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.73023315
42* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.71843760
43VDR_24763502_ChIP-Seq_THP-1_Human1.70460221
44* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.64169339
45Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.57112284
46SPI1_23547873_ChIP-Seq_NB4_Human1.54571589
47NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.53891297
48GATA2_21666600_ChIP-Seq_HMVEC_Human1.53435197
49ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.45413300
50PU_27001747_Chip-Seq_BMDM_Mouse1.39321403
51NOTCH1_21737748_ChIP-Seq_TLL_Human1.39123967
52ELK3_25401928_ChIP-Seq_HUVEC_Human1.39011978
53MAF_26560356_Chip-Seq_TH2_Human1.37738446
54CLOCK_20551151_ChIP-Seq_293T_Human1.35450517
55RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.33230474
56* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.31216725
57THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.29799517
58NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.26878389
59ESR1_20079471_ChIP-ChIP_T-47D_Human1.23980516
60MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.23855500
61GATA3_26560356_Chip-Seq_TH2_Human1.23100675
62* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.19949399
63PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.19445723
64GATA2_19941826_ChIP-Seq_K562_Human1.19073940
65VDR_24787735_ChIP-Seq_THP-1_Human1.18023943
66GATA1_19941827_ChIP-Seq_MEL_Mouse1.17374353
67FOXO3_23340844_ChIP-Seq_DLD1_Human1.17315547
68* KDM2B_26808549_Chip-Seq_JURKAT_Human1.14504753
69GATA1_19941826_ChIP-Seq_K562_Human1.14056940
70STAT6_21828071_ChIP-Seq_BEAS2B_Human1.10655877
71GATA2_22383799_ChIP-Seq_G1ME_Mouse1.08192955
72SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.04675554
73* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.02508792
74TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.99326418
75* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.97020643
76CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.95484959
77CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.94764183
78STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.92618396
79CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.91941509
80PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.91365723
81TBX20_22328084_ChIP-Seq_HEART_Mouse0.89440536
82TBX20_22080862_ChIP-Seq_HEART_Mouse0.89440536
83PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.88654567
84* LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.88036035
85NCOR1_26117541_ChIP-Seq_K562_Human0.87759944
86* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.87225528
87FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.86630364
88PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.86157768
89FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.86068578
90RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.85750556
91* GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.85277312
92SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.82089046
93SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.82089046
94* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.81856959
95SALL4_18804426_ChIP-ChIP_XEN_Mouse0.81590961
96CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.81295126
97GATA1_22383799_ChIP-Seq_G1ME_Mouse0.81249623
98NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.80587114
99CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.80557102
100TP63_17297297_ChIP-ChIP_HaCaT_Human0.79842289
101GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79329757
102ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.75002271
103* PPAR_26484153_Chip-Seq_NCI-H1993_Human0.74374505
104* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.72666229
105* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.72366597
106JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.71673198
107SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.70639121
108RARG_19884340_ChIP-ChIP_MEFs_Mouse0.70600094
109SMRT_27268052_Chip-Seq_Bcells_Human0.69576576
110LXR_22292898_ChIP-Seq_THP-1_Human0.67858889
111ESR2_21235772_ChIP-Seq_MCF-7_Human0.66949272

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003763_abnormal_thymus_physiology3.61884843
2MP0001835_abnormal_antigen_presentation3.59016427
3MP0005671_abnormal_response_to3.56677149
4MP0000685_abnormal_immune_system3.34080152
5MP0003300_gastrointestinal_ulcer3.01012501
6MP0001800_abnormal_humoral_immune2.86416988
7MP0005387_immune_system_phenotype2.79807397
8MP0001790_abnormal_immune_system2.79807397
9MP0005000_abnormal_immune_tolerance2.68534438
10MP0003724_increased_susceptibility_to2.61441980
11MP0002723_abnormal_immune_serum2.46293022
12MP0002166_altered_tumor_susceptibility2.45430988
13MP0002420_abnormal_adaptive_immunity2.45207240
14MP0003436_decreased_susceptibility_to2.44818758
15MP0002452_abnormal_antigen_presenting2.44554254
16MP0009785_altered_susceptibility_to2.44441418
17MP0001819_abnormal_immune_cell2.42118376
18MP0006054_spinal_hemorrhage2.41061656
19MP0001873_stomach_inflammation2.25942964
20MP0005025_abnormal_response_to2.24722247
21* MP0002398_abnormal_bone_marrow2.21245802
22MP0003303_peritoneal_inflammation2.17083868
23MP0005451_abnormal_body_composition2.16154613
24MP0004947_skin_inflammation2.14443527
25MP0002148_abnormal_hypersensitivity_rea2.14256813
26MP0006082_CNS_inflammation2.11845431
27MP0002419_abnormal_innate_immunity2.05659224
28MP0005464_abnormal_platelet_physiology2.04532755
29MP0004510_myositis2.03143319
30MP0002006_tumorigenesis1.99481660
31* MP0000716_abnormal_immune_system1.96529202
32MP0002405_respiratory_system_inflammati1.95597214
33MP0010155_abnormal_intestine_physiology1.90872386
34MP0009333_abnormal_splenocyte_physiolog1.85045587
35MP0002396_abnormal_hematopoietic_system1.80085525
36MP0008260_abnormal_autophagy1.75939525
37MP0000689_abnormal_spleen_morphology1.73693384
38MP0004808_abnormal_hematopoietic_stem1.73516194
39* MP0002722_abnormal_immune_system1.72787802
40MP0002933_joint_inflammation1.72587654
41* MP0000703_abnormal_thymus_morphology1.69064593
42MP0001845_abnormal_inflammatory_respons1.68350839
43* MP0002429_abnormal_blood_cell1.57499737
44MP0003866_abnormal_defecation1.53983864
45MP0001533_abnormal_skeleton_physiology1.52408630
46MP0002138_abnormal_hepatobiliary_system1.49898905
47MP0003045_fibrosis1.45150412
48MP0001853_heart_inflammation1.44034711
49MP0001851_eye_inflammation1.41525660
50MP0003279_aneurysm1.37638791
51MP0010352_gastrointestinal_tract_polyps1.37447996
52MP0000858_altered_metastatic_potential1.36601562
53MP0009278_abnormal_bone_marrow1.32887361
54MP0003448_altered_tumor_morphology1.31535822
55MP0002998_abnormal_bone_remodeling1.30857020
56MP0004883_abnormal_blood_vessel1.30118657
57MP0001545_abnormal_hematopoietic_system1.30059570
58MP0005397_hematopoietic_system_phenotyp1.30059570
59MP0000465_gastrointestinal_hemorrhage1.29272770
60MP0002877_abnormal_melanocyte_morpholog1.28395320
61MP0005164_abnormal_response_to1.21675201
62MP0005310_abnormal_salivary_gland1.19584226
63MP0008469_abnormal_protein_level1.19362514
64MP0002332_abnormal_exercise_endurance1.14603903
65MP0003566_abnormal_cell_adhesion1.12517308
66MP0008004_abnormal_stomach_pH1.11331486
67MP0010234_abnormal_vibrissa_follicle1.11159685
68MP0008438_abnormal_cutaneous_collagen1.09303888
69MP0003091_abnormal_cell_migration1.07902580
70MP0001879_abnormal_lymphatic_vessel1.06896683
71MP0005023_abnormal_wound_healing1.06866032
72MP0000343_altered_response_to1.05313361
73MP0010368_abnormal_lymphatic_system1.04632821
74MP0003656_abnormal_erythrocyte_physiolo1.04523306
75MP0004381_abnormal_hair_follicle1.03757095
76MP0003705_abnormal_hypodermis_morpholog1.02949207
77MP0003690_abnormal_glial_cell0.99662147
78MP0003828_pulmonary_edema0.98098514
79MP0002009_preneoplasia0.97881702
80MP0003191_abnormal_cellular_cholesterol0.96886210
81MP0001958_emphysema0.92483654
82MP0009840_abnormal_foam_cell0.88611715
83MP0000604_amyloidosis0.88185613
84MP0009764_decreased_sensitivity_to0.87544058
85MP0005076_abnormal_cell_differentiation0.86694219
86MP0000249_abnormal_blood_vessel0.83539484
87MP0005409_darkened_coat_color0.82815406
88MP0008961_abnormal_basal_metabolism0.82723527
89MP0005166_decreased_susceptibility_to0.82397101
90MP0001348_abnormal_lacrimal_gland0.81537922
91MP0004484_altered_response_of0.80357881
92MP0003795_abnormal_bone_structure0.79034357
93MP0001243_abnormal_dermal_layer0.78647618
94MP0002928_abnormal_bile_duct0.78306579
95MP0004130_abnormal_muscle_cell0.77786791
96MP0002132_abnormal_respiratory_system0.75238221
97MP0001915_intracranial_hemorrhage0.74375691
98MP0005390_skeleton_phenotype0.74313887
99MP0005275_abnormal_skin_tensile0.73152507
100MP0003172_abnormal_lysosome_physiology0.72880756
101MP0009763_increased_sensitivity_to0.71065461
102MP0000569_abnormal_digit_pigmentation0.70480557
103MP0005058_abnormal_lysosome_morphology0.69690339
104MP0002254_reproductive_system_inflammat0.69688925
105MP0000013_abnormal_adipose_tissue0.69442964
106MP0000767_abnormal_smooth_muscle0.68659789
107MP0003453_abnormal_keratinocyte_physiol0.66126372
108MP0000609_abnormal_liver_physiology0.64535055
109MP0002060_abnormal_skin_morphology0.63834681
110MP0001191_abnormal_skin_condition0.62013598
111MP0002136_abnormal_kidney_physiology0.61377951
112MP0003075_altered_response_to0.59999272
113MP0002168_other_aberrant_phenotype0.59840699
114MP0003183_abnormal_peptide_metabolism0.57829791

Predicted human phenotypes

RankGene SetZ-score
1T lymphocytopenia (HP:0005403)4.69254080
2Abnormality of T cell number (HP:0011839)4.56432417
3Myositis (HP:0100614)4.08856194
4Eczematoid dermatitis (HP:0000976)4.06894025
5Recurrent bronchitis (HP:0002837)3.71569521
6Elevated erythrocyte sedimentation rate (HP:0003565)3.67646668
7Recurrent fungal infections (HP:0002841)3.65156116
8Recurrent viral infections (HP:0004429)3.63001714
9Recurrent abscess formation (HP:0002722)3.56340433
10Abnormal delayed hypersensitivity skin test (HP:0002963)3.47300837
11Chronic otitis media (HP:0000389)3.39683142
12Abnormality of T cells (HP:0002843)3.37104121
13Spontaneous hematomas (HP:0007420)3.29052137
14IgM deficiency (HP:0002850)3.25737905
15Orchitis (HP:0100796)3.23216408
16Recurrent bacterial skin infections (HP:0005406)3.22846219
17Nasal polyposis (HP:0100582)3.21830464
18Abnormality of the nasal mucosa (HP:0000433)3.14369164
19Aortic aneurysm (HP:0004942)3.07287055
20Optic neuritis (HP:0100653)3.02667137
21Retrobulbar optic neuritis (HP:0100654)3.02667137
22Arterial thrombosis (HP:0004420)3.00983128
23Recurrent cutaneous fungal infections (HP:0011370)2.95972321
24Chronic mucocutaneous candidiasis (HP:0002728)2.95972321
25Increased IgE level (HP:0003212)2.91617803
26Autoimmune thrombocytopenia (HP:0001973)2.91523625
27Pustule (HP:0200039)2.84996181
28Spondylolisthesis (HP:0003302)2.84791153
29Agammaglobulinemia (HP:0004432)2.80917537
30Hematochezia (HP:0002573)2.78103552
31Vasculitis (HP:0002633)2.77346626
32Meningitis (HP:0001287)2.75528930
33Cellulitis (HP:0100658)2.74490945
34Abnormality of the fingertips (HP:0001211)2.73424073
35Panhypogammaglobulinemia (HP:0003139)2.72976185
36Stomatitis (HP:0010280)2.71870629
37Syringomyelia (HP:0003396)2.66729109
38Spinal cord lesions (HP:0100561)2.66729109
39Peritonitis (HP:0002586)2.64261854
40Inflammation of the large intestine (HP:0002037)2.62900294
41Recurrent skin infections (HP:0001581)2.60968087
42Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.60942087
43Papilloma (HP:0012740)2.58510380
44Verrucae (HP:0200043)2.58510380
45Subacute progressive viral hepatitis (HP:0006572)2.56501649
46Gastrointestinal inflammation (HP:0004386)2.55379872
47Keratoconjunctivitis sicca (HP:0001097)2.54622288
48Pulmonary infiltrates (HP:0002113)2.54609205
49IgG deficiency (HP:0004315)2.49825308
50Mediastinal lymphadenopathy (HP:0100721)2.49128210
51Absent frontal sinuses (HP:0002688)2.47792476
52Myocardial infarction (HP:0001658)2.47741651
53Colitis (HP:0002583)2.44540530
54Prolonged bleeding time (HP:0003010)2.42752387
55Lymphopenia (HP:0001888)2.39979530
56Leukocytosis (HP:0001974)2.39485400
57Hemoptysis (HP:0002105)2.39184113
58Eosinophilia (HP:0001880)2.37044043
59Aortic dissection (HP:0002647)2.36475148
60Keratoconjunctivitis (HP:0001096)2.35913783
61Emphysema (HP:0002097)2.35561746
62Obstructive lung disease (HP:0006536)2.35498314
63Chronic obstructive pulmonary disease (HP:0006510)2.35498314
64Abnormality of T cell physiology (HP:0011840)2.35349517
65Joint swelling (HP:0001386)2.35186783
66Epistaxis (HP:0000421)2.32476622
67Interstitial pulmonary disease (HP:0006530)2.30189675
68Chronic diarrhea (HP:0002028)2.30175787
69Thyroiditis (HP:0100646)2.28620117
70Autoimmune hemolytic anemia (HP:0001890)2.27598177
71Dilatation of the ascending aorta (HP:0005111)2.26581392
72Abnormality of cells of the lymphoid lineage (HP:0012140)2.26507676
73Abnormality of eosinophils (HP:0001879)2.25957345
74Abnormal platelet volume (HP:0011876)2.25057619
75Pulmonary embolism (HP:0002204)2.23059346
76Recurrent gram-negative bacterial infections (HP:0005420)2.22998258
77Periodontitis (HP:0000704)2.22869185
78Thrombocytosis (HP:0001894)2.22082418
79Encephalitis (HP:0002383)2.20553175
80Cerebral aneurysm (HP:0004944)2.19537524
81Gastrointestinal stroma tumor (HP:0100723)2.17894900
82Chest pain (HP:0100749)2.15782862
83Gastrointestinal infarctions (HP:0005244)2.15169088
84Severe combined immunodeficiency (HP:0004430)2.13599013
85Striae distensae (HP:0001065)2.11410262
86Slow saccadic eye movements (HP:0000514)2.11288555
87Dysostosis multiplex (HP:0000943)2.10179607
88Arterial tortuosity (HP:0005116)2.09145235
89Polycythemia (HP:0001901)2.08583039
90Viral hepatitis (HP:0006562)2.08576056
91Gingival bleeding (HP:0000225)2.08098020
92Protrusio acetabuli (HP:0003179)2.07393701
93Combined immunodeficiency (HP:0005387)2.07158594
94Fatigue (HP:0012378)2.07069370
95IgA deficiency (HP:0002720)2.01811510
96Vascular tortuosity (HP:0004948)2.00870248
97B lymphocytopenia (HP:0010976)2.00566643
98Abnormality of B cell number (HP:0010975)2.00566643
99Gingivitis (HP:0000230)1.99458510
100Abnormality of macrophages (HP:0004311)1.99317341
101Osteolytic defects of the phalanges of the hand (HP:0009771)1.97534271
102Abnormal platelet function (HP:0011869)1.97026486
103Impaired platelet aggregation (HP:0003540)1.97026486
104Increased mean platelet volume (HP:0011877)1.96684986
105Hypergammaglobulinemia (HP:0010702)1.96596125
106Osteomyelitis (HP:0002754)1.96590770
107Persistence of primary teeth (HP:0006335)1.95591504
108Granulocytopenia (HP:0001913)1.94641845
109Increased density of long bones (HP:0006392)1.94343016
110Urticaria (HP:0001025)1.94235669
111Abnormality of the peritoneum (HP:0002585)1.93610779
112Facial diplegia (HP:0001349)1.92176847
113Abnormality of liposaccharide metabolism (HP:0010968)1.91790456
114Abnormality of glycosphingolipid metabolism (HP:0004343)1.91790456
115Abnormality of glycolipid metabolism (HP:0010969)1.91790456
116Chronic sinusitis (HP:0011109)1.90027906
117Osteolytic defects of the hand bones (HP:0009699)1.89574353
118Amyloidosis (HP:0011034)1.88165668
119Glomerulopathy (HP:0100820)1.87760632
120Urinary glycosaminoglycan excretion (HP:0003541)1.86999244
121Mucopolysacchariduria (HP:0008155)1.86999244
122Increased CSF protein (HP:0002922)1.86428605
123Gangrene (HP:0100758)1.85617576
124Mitral stenosis (HP:0001718)1.85172451
125Vertebral compression fractures (HP:0002953)1.83959596
126Asymmetric septal hypertrophy (HP:0001670)1.79949307
127Abnormality of polysaccharide metabolism (HP:0011012)1.78320097
128Abnormality of glycosaminoglycan metabolism (HP:0004371)1.78320097
129Abnormality of mucopolysaccharide metabolism (HP:0011020)1.78320097

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K14.50159389
2TXK3.66090925
3PRPF4B2.79087901
4MAP3K142.65614389
5TYK22.58032025
6FGFR42.56729477
7JAK12.52774049
8ITK2.52583564
9* JAK32.45837272
10FGFR32.26959679
11ZAP702.26545519
12STK102.13554472
13IKBKE2.10217599
14TGFBR22.03533263
15TRIB32.00605267
16GRK61.91908237
17TBK11.85503200
18KDR1.83061538
19MAP3K131.72172434
20NLK1.72146140
21PIK3CG1.71001211
22EPHA31.70657358
23PKN21.67440434
24RIPK41.58028786
25EPHB11.57680573
26ERN11.56855144
27BMPR21.50140691
28SYK1.50108597
29BTK1.48775944
30EEF2K1.47000709
31TEC1.42708934
32KIT1.37822450
33PRKCH1.37046509
34* LCK1.36346317
35SIK21.35993186
36MAP3K101.35681363
37CSK1.35170718
38SIK31.32996933
39HCK1.27060702
40BLK1.24529402
41TTN1.24194954
42NEK91.24177614
43JAK21.22186950
44MARK31.18479872
45LRRK21.18259544
46MAP2K31.13193158
47KSR21.12559104
48IKBKB1.11888792
49IRAK41.11678182
50CAMKK21.05018692
51TAOK31.03741568
52RIPK10.97955049
53CHUK0.96634893
54FGR0.95294386
55IRAK30.92131191
56MAPK70.90714163
57MAP3K120.88776613
58PRKCQ0.87991560
59TGFBR10.87731852
60MARK20.86665653
61PDGFRB0.84558109
62TRPM70.83774988
63MAP3K60.83305026
64RET0.82312228
65CDC42BPA0.82056013
66PIM10.82053727
67PTK60.81154287
68SIK10.80259509
69MAP3K70.80155187
70CSF1R0.79412177
71FES0.77215195
72DMPK0.75219450
73STK240.72857052
74PDK10.71591074
75MAP3K110.71403328
76STK380.70649730
77PDGFRA0.69872189
78FLT30.69596724
79HIPK20.69254761
80YES10.69197990
81RPS6KA40.68512612
82PDPK10.66592084
83PTK2B0.64937744
84MAP3K30.63362714
85SGK30.63167740
86CDK90.61911219
87TIE10.61811701
88LYN0.60414895
89CAMKK10.56256366
90CLK10.55673228
91NEK60.55135372
92MAPK120.55120546
93TNK20.54598036
94TAOK10.53343973
95TAOK20.52896272
96MAP3K10.52522631
97CDK120.50050878
98SCYL20.48947074
99MOS0.46165776
100BRD40.44713016
101CDK40.44389045
102WNK10.43863589
103IRAK20.42262224
104IGF1R0.42245507
105MAP3K50.41762790
106GRK70.40387400
107IRAK10.40304100
108MST40.39362566
109ALK0.38927323
110FGFR20.37233179
111CDK60.35984238
112MAP3K20.35649167
113MELK0.35438402
114MAPK40.35353053
115RPS6KA20.34682752
116FRK0.33876096
117SGK20.33701622
118MAPK30.33201456
119FYN0.33041099
120MAPK110.32276951
121MAPKAPK20.32261975
122EGFR0.31543461
123PRKD20.30980941
124INSR0.30573205
125PTK20.28953789

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.36668312
2T cell receptor signaling pathway_Homo sapiens_hsa046602.58746955
3Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.54564001
4Graft-versus-host disease_Homo sapiens_hsa053322.50594929
5Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.47519582
6B cell receptor signaling pathway_Homo sapiens_hsa046622.20849401
7* Osteoclast differentiation_Homo sapiens_hsa043802.19172033
8Intestinal immune network for IgA production_Homo sapiens_hsa046722.17228401
9Antigen processing and presentation_Homo sapiens_hsa046122.16251049
10NF-kappa B signaling pathway_Homo sapiens_hsa040642.11753083
11* Leishmaniasis_Homo sapiens_hsa051402.07035437
12* Measles_Homo sapiens_hsa051622.02382107
13Viral myocarditis_Homo sapiens_hsa054161.69298913
14Allograft rejection_Homo sapiens_hsa053301.64816394
15Hematopoietic cell lineage_Homo sapiens_hsa046401.63307978
16* Jak-STAT signaling pathway_Homo sapiens_hsa046301.55697313
17Chemokine signaling pathway_Homo sapiens_hsa040621.55428364
18* Toxoplasmosis_Homo sapiens_hsa051451.52089087
19Platelet activation_Homo sapiens_hsa046111.49576241
20Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.48577507
21Leukocyte transendothelial migration_Homo sapiens_hsa046701.48539215
22TNF signaling pathway_Homo sapiens_hsa046681.48201971
23AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.44555828
24Toll-like receptor signaling pathway_Homo sapiens_hsa046201.43965314
25Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.43876778
26Staphylococcus aureus infection_Homo sapiens_hsa051501.39638486
27Malaria_Homo sapiens_hsa051441.39523712
28Acute myeloid leukemia_Homo sapiens_hsa052211.34796654
29Other glycan degradation_Homo sapiens_hsa005111.32856235
30NOD-like receptor signaling pathway_Homo sapiens_hsa046211.31795372
31Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.29524585
32RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.28552969
33Shigellosis_Homo sapiens_hsa051311.25535737
34Chronic myeloid leukemia_Homo sapiens_hsa052201.24355144
35Neurotrophin signaling pathway_Homo sapiens_hsa047221.22217458
36* Influenza A_Homo sapiens_hsa051641.21421798
37Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.17394888
38Prolactin signaling pathway_Homo sapiens_hsa049171.16905183
39* Hepatitis B_Homo sapiens_hsa051611.16505477
40* Tuberculosis_Homo sapiens_hsa051521.15169897
41Apoptosis_Homo sapiens_hsa042101.14476682
42* Pancreatic cancer_Homo sapiens_hsa052121.14245659
43Pertussis_Homo sapiens_hsa051331.08222358
44VEGF signaling pathway_Homo sapiens_hsa043701.05897776
45Salmonella infection_Homo sapiens_hsa051321.02678208
46* Herpes simplex infection_Homo sapiens_hsa051681.00647643
47Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.99473797
48Glycosaminoglycan degradation_Homo sapiens_hsa005310.98655747
49Insulin resistance_Homo sapiens_hsa049310.92756441
50Legionellosis_Homo sapiens_hsa051340.92718984
51Autoimmune thyroid disease_Homo sapiens_hsa053200.92708078
52Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.92274672
53Inositol phosphate metabolism_Homo sapiens_hsa005620.90642756
54Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.90258803
55Non-small cell lung cancer_Homo sapiens_hsa052230.86717687
56Type I diabetes mellitus_Homo sapiens_hsa049400.85678037
57Asthma_Homo sapiens_hsa053100.84423336
58Phagosome_Homo sapiens_hsa041450.83726507
59* Hepatitis C_Homo sapiens_hsa051600.81970156
60Focal adhesion_Homo sapiens_hsa045100.78996510
61* HTLV-I infection_Homo sapiens_hsa051660.77404645
62Colorectal cancer_Homo sapiens_hsa052100.76544305
63African trypanosomiasis_Homo sapiens_hsa051430.76179746
64Phosphatidylinositol signaling system_Homo sapiens_hsa040700.75814563
65Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.74985222
66Dorso-ventral axis formation_Homo sapiens_hsa043200.74417864
67Rheumatoid arthritis_Homo sapiens_hsa053230.73386997
68Regulation of actin cytoskeleton_Homo sapiens_hsa048100.72643541
69FoxO signaling pathway_Homo sapiens_hsa040680.71675611
70Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.71615911
71GnRH signaling pathway_Homo sapiens_hsa049120.70909997
72Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.70370247
73Adipocytokine signaling pathway_Homo sapiens_hsa049200.69174892
74Caffeine metabolism_Homo sapiens_hsa002320.69146705
75Amoebiasis_Homo sapiens_hsa051460.67788788
76Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.67020030
77ErbB signaling pathway_Homo sapiens_hsa040120.66644547
78Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.65787784
79Rap1 signaling pathway_Homo sapiens_hsa040150.63395460
80Small cell lung cancer_Homo sapiens_hsa052220.63310106
81mTOR signaling pathway_Homo sapiens_hsa041500.63089052
82Endocytosis_Homo sapiens_hsa041440.62897257
83Proteoglycans in cancer_Homo sapiens_hsa052050.62495111
84Endometrial cancer_Homo sapiens_hsa052130.62160615
85Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.61137039
86Thyroid hormone signaling pathway_Homo sapiens_hsa049190.60413254
87Adherens junction_Homo sapiens_hsa045200.59242833
88Sphingolipid signaling pathway_Homo sapiens_hsa040710.59124161
89Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.59025199
90Carbohydrate digestion and absorption_Homo sapiens_hsa049730.58626241
91MAPK signaling pathway_Homo sapiens_hsa040100.57507509
92Notch signaling pathway_Homo sapiens_hsa043300.57459194
93Glioma_Homo sapiens_hsa052140.56344443
94Phospholipase D signaling pathway_Homo sapiens_hsa040720.54336504
95* Viral carcinogenesis_Homo sapiens_hsa052030.53903759
96Estrogen signaling pathway_Homo sapiens_hsa049150.52232497
97Aldosterone synthesis and secretion_Homo sapiens_hsa049250.50921527
98Transcriptional misregulation in cancer_Homo sapiens_hsa052020.50733526
99Complement and coagulation cascades_Homo sapiens_hsa046100.50502429
100cGMP-PKG signaling pathway_Homo sapiens_hsa040220.50351547
101Renal cell carcinoma_Homo sapiens_hsa052110.48583084
102Type II diabetes mellitus_Homo sapiens_hsa049300.48501320
103Thyroid cancer_Homo sapiens_hsa052160.48429051
104Insulin signaling pathway_Homo sapiens_hsa049100.48261020
105Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.48130190
106Lysosome_Homo sapiens_hsa041420.47254518
107Long-term potentiation_Homo sapiens_hsa047200.44972717
108Choline metabolism in cancer_Homo sapiens_hsa052310.43923176
109HIF-1 signaling pathway_Homo sapiens_hsa040660.43853913
110Prostate cancer_Homo sapiens_hsa052150.43426038
111Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.41780656
112Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.41768277

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