TGFB1

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 secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. 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)5.28452543
2antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.07863066
3antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.07863066
4antigen processing and presentation of endogenous antigen (GO:0019883)4.63794353
5regulation of interferon-beta biosynthetic process (GO:0045357)4.34954645
6detection of other organism (GO:0098543)4.26189289
7detection of bacterium (GO:0016045)4.22043959
8positive regulation of B cell differentiation (GO:0045579)4.15041609
9regulation of B cell receptor signaling pathway (GO:0050855)4.07719777
10regulation of gamma-delta T cell differentiation (GO:0045586)3.99892249
11negative regulation of cell killing (GO:0031342)3.95834124
12negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.95834124
13leukocyte aggregation (GO:0070486)3.89468322
14regulation of gamma-delta T cell activation (GO:0046643)3.85713766
15immunoglobulin mediated immune response (GO:0016064)3.84564302
16* positive regulation by symbiont of host defense response (GO:0052509)3.79305621
17* modulation by symbiont of host defense response (GO:0052031)3.79305621
18* modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.79305621
19* modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.79305621
20* positive regulation by organism of defense response of other organism involved in symbiotic interact3.79305621
21* modulation by symbiont of host immune response (GO:0052553)3.79305621
22cellular extravasation (GO:0045123)3.72687720
23negative regulation of interleukin-12 production (GO:0032695)3.69057299
24positive thymic T cell selection (GO:0045059)3.65978617
25macrophage activation involved in immune response (GO:0002281)3.64233838
26detection of external biotic stimulus (GO:0098581)3.60214194
27negative regulation of granulocyte differentiation (GO:0030853)3.58461162
28positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.57527793
29response to muramyl dipeptide (GO:0032495)3.56291062
30regulation of interleukin-12 biosynthetic process (GO:0045075)3.55559108
31antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.51523273
32B cell receptor signaling pathway (GO:0050853)3.49182343
33neutrophil activation involved in immune response (GO:0002283)3.48093099
34regulation of B cell differentiation (GO:0045577)3.43228904
35positive regulation of interferon-alpha production (GO:0032727)3.43153203
36Arp2/3 complex-mediated actin nucleation (GO:0034314)3.41251912
37T cell migration (GO:0072678)3.36255991
38regulation of interferon-alpha production (GO:0032647)3.34758979
39response to peptidoglycan (GO:0032494)3.34609868
40positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.34176621
41negative regulation of lymphocyte mediated immunity (GO:0002707)3.31363873
42regulation of myeloid leukocyte mediated immunity (GO:0002886)3.30887242
43detection of molecule of bacterial origin (GO:0032490)3.28147326
44JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)3.27997128
45negative regulation of erythrocyte differentiation (GO:0045647)3.20572015
46negative regulation of leukocyte mediated immunity (GO:0002704)3.19000895
47respiratory burst (GO:0045730)3.16997672
48regulation of T cell tolerance induction (GO:0002664)3.15946145
49detection of biotic stimulus (GO:0009595)3.15420465
50megakaryocyte development (GO:0035855)3.11122014
51negative regulation of T cell mediated immunity (GO:0002710)3.09439990
52regulation of erythrocyte differentiation (GO:0045646)3.08880298
53pinocytosis (GO:0006907)3.06200103
54natural killer cell differentiation (GO:0001779)3.03800087
55regulation of T-helper 2 cell differentiation (GO:0045628)3.03047381
56leukocyte cell-cell adhesion (GO:0007159)3.02830751
57positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.01190666
58* lipopolysaccharide-mediated signaling pathway (GO:0031663)2.97130393
59positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.96593295
60neutrophil activation (GO:0042119)2.95734152
61granulocyte activation (GO:0036230)2.94271404
62regulation of dendritic cell antigen processing and presentation (GO:0002604)2.92323818
63germinal center formation (GO:0002467)2.92168833
64response to interleukin-15 (GO:0070672)2.91382522
65regulation of tolerance induction (GO:0002643)2.90386913
66myeloid cell activation involved in immune response (GO:0002275)2.89727470
67B cell mediated immunity (GO:0019724)2.87724550
68negative thymic T cell selection (GO:0045060)2.86363723
69regulation of mast cell degranulation (GO:0043304)2.86109098
70macrophage activation (GO:0042116)2.85423566
71negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.85213325
72regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.85099474
73regulation of natural killer cell mediated immunity (GO:0002715)2.85099474
74thymic T cell selection (GO:0045061)2.83932621
75response to protozoan (GO:0001562)2.82909851
76regulation of mast cell activation (GO:0033003)2.82806837
77embryonic hemopoiesis (GO:0035162)2.81495740
783-UTR-mediated mRNA stabilization (GO:0070935)2.81280364
79negative regulation of interleukin-6 production (GO:0032715)2.81063768
80T cell apoptotic process (GO:0070231)2.79040435
81B cell homeostasis (GO:0001782)2.77897446
82positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.76690437
83regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.75602669
84positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.74900418
85positive regulation of antigen processing and presentation (GO:0002579)2.73979113
86negative T cell selection (GO:0043383)2.73789504
87regulation of type I interferon-mediated signaling pathway (GO:0060338)2.73783992
88CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.73322648
89regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.73021410
90leukocyte migration involved in inflammatory response (GO:0002523)2.72721620
91regulation of regulated secretory pathway (GO:1903305)2.72607727
92defense response to protozoan (GO:0042832)2.72325783
93negative regulation of innate immune response (GO:0045824)2.72151374
94NIK/NF-kappaB signaling (GO:0038061)2.71634321
95regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.71364432
96positive regulation of mast cell activation (GO:0033005)2.70747945
97cellular response to interleukin-15 (GO:0071350)2.70597306
98mature B cell differentiation (GO:0002335)2.69556020
99actin nucleation (GO:0045010)2.68143419
100leukocyte degranulation (GO:0043299)2.67309095
101regulation of granulocyte differentiation (GO:0030852)2.65952127
102positive regulation of cytokine biosynthetic process (GO:0042108)2.65609530
103positive T cell selection (GO:0043368)2.65042834
104tyrosine phosphorylation of STAT protein (GO:0007260)2.64277187
105microglial cell activation (GO:0001774)2.63337206
106positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.63096472
107regulation of mast cell activation involved in immune response (GO:0033006)2.62154402
108regulation of interferon-gamma biosynthetic process (GO:0045072)2.61050787
109positive regulation of cellular amide metabolic process (GO:0034250)2.60285708
110regulation of interleukin-2 biosynthetic process (GO:0045076)2.60027296
111regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.59287979
112response to type I interferon (GO:0034340)2.59269740
113positive regulation of erythrocyte differentiation (GO:0045648)2.58928708
114T cell selection (GO:0045058)2.58330103
115antigen processing and presentation via MHC class Ib (GO:0002475)2.57966232
116positive regulation of mast cell activation involved in immune response (GO:0033008)2.57931433
117positive regulation of mast cell degranulation (GO:0043306)2.57931433
118granulocyte differentiation (GO:0030851)2.57557303
119negative regulation of B cell proliferation (GO:0030889)2.56943595
120regulation of antigen processing and presentation (GO:0002577)2.54574925
121regulation of alpha-beta T cell proliferation (GO:0046640)2.54446173
122protein localization to endosome (GO:0036010)2.53791145
123T-helper 1 type immune response (GO:0042088)2.52922080
124interferon-gamma-mediated signaling pathway (GO:0060333)2.52901982
125platelet formation (GO:0030220)2.52641643
126type I interferon signaling pathway (GO:0060337)2.51898968
127cellular response to type I interferon (GO:0071357)2.51898968
128regulation of leukocyte degranulation (GO:0043300)2.51104504
129positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.51079804
130T cell proliferation (GO:0042098)2.50985724
131positive regulation of macrophage differentiation (GO:0045651)2.50401107
132* lymphocyte homeostasis (GO:0002260)2.50032756
133antigen receptor-mediated signaling pathway (GO:0050851)2.49928695
134mannose metabolic process (GO:0006013)2.49596742
135interferon-gamma production (GO:0032609)2.48363513
136positive regulation of interferon-beta production (GO:0032728)2.48268379
137signal complex assembly (GO:0007172)2.47727217

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.13590022
2EGR1_19374776_ChIP-ChIP_THP-1_Human3.91535769
3BP1_19119308_ChIP-ChIP_Hs578T_Human3.75687478
4* MYC_22102868_ChIP-Seq_BL_Human3.60656472
5STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.52647141
6IRF8_22096565_ChIP-ChIP_GC-B_Human3.40644767
7IRF8_21731497_ChIP-ChIP_J774_Mouse3.32620622
8FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.24614716
9* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.20819430
10VDR_21846776_ChIP-Seq_THP-1_Human3.19977483
11NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.16201646
12SCL_19346495_ChIP-Seq_HPC-7_Human2.90591699
13SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.81942956
14IRF8_27001747_Chip-Seq_BMDM_Mouse2.73134328
15MYB_21317192_ChIP-Seq_ERMYB_Mouse2.70492595
16* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.62260052
17* TCF7_22412390_ChIP-Seq_EML_Mouse2.41177455
18* MAF_26560356_Chip-Seq_TH1_Human2.40955286
19* SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.39006728
20IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.35825486
21FOXM1_23109430_ChIP-Seq_U2OS_Human2.35670745
22VDR_24763502_ChIP-Seq_THP-1_Human2.34712287
23* BRD4_27068464_Chip-Seq_AML-cells_Mouse2.26131502
24NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.25383997
25STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.23116005
26MYB_26560356_Chip-Seq_TH2_Human2.21337830
27UTX_26944678_Chip-Seq_JUKART_Human2.18475076
28* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.15247672
29* STAT4_19710469_ChIP-ChIP_TH1__Mouse2.10505782
30* RUNX1_22412390_ChIP-Seq_EML_Mouse2.06599905
31ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.06385810
32RUNX_20019798_ChIP-Seq_JUKART_Human2.03943839
33STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.02871084
34FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.02820387
35SPI1_23547873_ChIP-Seq_NB4_Human2.01793995
36* MYB_26560356_Chip-Seq_TH1_Human1.96796856
37SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.94098571
38* ELK3_25401928_ChIP-Seq_HUVEC_Human1.91913176
39E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.91807890
40* KDM2B_26808549_Chip-Seq_DND41_Human1.91685735
41SPI1_23127762_ChIP-Seq_K562_Human1.90728705
42* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.88833471
43* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.86270880
44IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.86023001
45* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.84157547
46RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.71708372
47* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.69663722
48RARG_19884340_ChIP-ChIP_MEFs_Mouse1.67973537
49MAF_26560356_Chip-Seq_TH2_Human1.58803577
50* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.55180635
51* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.50174002
52TP63_17297297_ChIP-ChIP_HaCaT_Human1.49490328
53VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.48220395
54GATA1_22383799_ChIP-Seq_G1ME_Mouse1.47247694
55* MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.46948117
56TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.45104255
57Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.43387505
58FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.39782931
59SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.36145222
60* GATA2_22383799_ChIP-Seq_G1ME_Mouse1.33393813
61* GATA1_19941827_ChIP-Seq_MEL_Mouse1.30815032
62PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.28106697
63PU_27001747_Chip-Seq_BMDM_Mouse1.27140392
64GATA3_27048872_Chip-Seq_THYMUS_Human1.26485018
65NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.26184680
66PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.23050938
67CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.22492371
68LXR_22292898_ChIP-Seq_THP-1_Human1.22374481
69KDM2B_26808549_Chip-Seq_K562_Human1.21923816
70NCOR1_26117541_ChIP-Seq_K562_Human1.21501809
71THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.19332768
72* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.18608901
73CIITA_25753668_ChIP-Seq_RAJI_Human1.18170873
74SA1_27219007_Chip-Seq_ERYTHROID_Human1.16637093
75KDM2B_26808549_Chip-Seq_JURKAT_Human1.14755447
76GATA1_19941826_ChIP-Seq_K562_Human1.13992782
77SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13712094
78KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.13232912
79ELF1_20517297_ChIP-Seq_JURKAT_Human1.10865787
80PU.1_20513432_ChIP-Seq_Bcells_Mouse1.10830600
81* LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.10319300
82BCL6_27268052_Chip-Seq_Bcells_Human1.09431236
83BCOR_27268052_Chip-Seq_Bcells_Human1.08905917
84CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.06514085
85SMAD_19615063_ChIP-ChIP_OVARY_Human1.04436468
86GATA1_22025678_ChIP-Seq_K562_Human1.03881460
87IKZF1_21737484_ChIP-ChIP_HCT116_Human1.02934948
88NOTCH1_21737748_ChIP-Seq_TLL_Human1.02903924
89P68_20966046_ChIP-Seq_HELA_Human1.00572079
90CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.00450912
91* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.99953897
92* E2F4_17652178_ChIP-ChIP_JURKAT_Human0.98962353
93TFEB_21752829_ChIP-Seq_HELA_Human0.98075581
94CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.97958803
95* GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.97893461
96RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.95041921
97VDR_24787735_ChIP-Seq_THP-1_Human0.94144483
98GATA2_19941826_ChIP-Seq_K562_Human0.94022398
99CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.93605060
100RACK7_27058665_Chip-Seq_MCF-7_Human0.93178550
101ELF1_17652178_ChIP-ChIP_JURKAT_Human0.92197411
102TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.91193778
103PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.88992375
104FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.88243602
105* CTCF_27219007_Chip-Seq_ERYTHROID_Human0.87438867
106* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.85222069
107STAT6_21828071_ChIP-Seq_BEAS2B_Human0.84937313
108GATA2_21666600_ChIP-Seq_HMVEC_Human0.83175650
109SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.83137182
110P300_27058665_Chip-Seq_ZR-75-30cells_Human0.82175499
111GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81632495
112SPI1_20517297_ChIP-Seq_HL60_Human0.81332095
113FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.81305595
114GATA3_26560356_Chip-Seq_TH2_Human0.79163327
115* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78984200
116ERG_20887958_ChIP-Seq_HPC-7_Mouse0.78762264
117ATF3_27146783_Chip-Seq_COLON_Human0.77829892

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003303_peritoneal_inflammation4.28511687
2MP0001835_abnormal_antigen_presentation3.23171256
3MP0003436_decreased_susceptibility_to3.18879743
4MP0000685_abnormal_immune_system2.82521249
5MP0001800_abnormal_humoral_immune2.78412737
6* MP0001790_abnormal_immune_system2.71973542
7* MP0005387_immune_system_phenotype2.71973542
8MP0009278_abnormal_bone_marrow2.56686576
9MP0002452_abnormal_antigen_presenting2.54527061
10* MP0005000_abnormal_immune_tolerance2.53205393
11MP0004510_myositis2.46235822
12MP0005671_abnormal_response_to2.45971401
13MP0002396_abnormal_hematopoietic_system2.45613477
14MP0002419_abnormal_innate_immunity2.42968960
15* MP0002723_abnormal_immune_serum2.36910275
16MP0005464_abnormal_platelet_physiology2.36837908
17MP0005025_abnormal_response_to2.33718732
18* MP0002420_abnormal_adaptive_immunity2.27336536
19* MP0001819_abnormal_immune_cell2.25981313
20MP0009785_altered_susceptibility_to2.24990836
21* MP0002398_abnormal_bone_marrow2.22137550
22* MP0003300_gastrointestinal_ulcer2.17564574
23MP0005397_hematopoietic_system_phenotyp2.15515011
24MP0001545_abnormal_hematopoietic_system2.15515011
25MP0000465_gastrointestinal_hemorrhage2.10141267
26MP0004808_abnormal_hematopoietic_stem2.09056183
27MP0009333_abnormal_splenocyte_physiolog2.08131037
28* MP0002405_respiratory_system_inflammati2.04276704
29* MP0000716_abnormal_immune_system1.96303514
30MP0002148_abnormal_hypersensitivity_rea1.95940695
31MP0003763_abnormal_thymus_physiology1.95442657
32MP0005451_abnormal_body_composition1.93977074
33MP0005058_abnormal_lysosome_morphology1.93373582
34* MP0000689_abnormal_spleen_morphology1.93131439
35* MP0002722_abnormal_immune_system1.86585682
36MP0004947_skin_inflammation1.86427672
37MP0008260_abnormal_autophagy1.83508788
38MP0010352_gastrointestinal_tract_polyps1.80910634
39MP0001533_abnormal_skeleton_physiology1.79136507
40* MP0006082_CNS_inflammation1.75808126
41MP0009840_abnormal_foam_cell1.75697153
42* MP0002429_abnormal_blood_cell1.71677262
43MP0005076_abnormal_cell_differentiation1.68352841
44* MP0010155_abnormal_intestine_physiology1.67461224
45MP0003724_increased_susceptibility_to1.67067583
46MP0001853_heart_inflammation1.66835087
47MP0001873_stomach_inflammation1.63081721
48MP0003172_abnormal_lysosome_physiology1.61091002
49* MP0001845_abnormal_inflammatory_respons1.60861958
50MP0002166_altered_tumor_susceptibility1.59208710
51MP0010307_abnormal_tumor_latency1.57454088
52MP0000703_abnormal_thymus_morphology1.57162787
53MP0003191_abnormal_cellular_cholesterol1.56147125
54MP0003566_abnormal_cell_adhesion1.51829463
55MP0002933_joint_inflammation1.47855658
56MP0003448_altered_tumor_morphology1.41971022
57MP0000343_altered_response_to1.41478047
58MP0003705_abnormal_hypodermis_morpholog1.36128931
59* MP0008469_abnormal_protein_level1.23930494
60* MP0000490_abnormal_crypts_of1.19111000
61MP0002006_tumorigenesis1.17033658
62MP0000858_altered_metastatic_potential1.16314146
63MP0008004_abnormal_stomach_pH1.15366449
64MP0002998_abnormal_bone_remodeling1.13565059
65MP0004883_abnormal_blood_vessel1.10429409
66MP0005023_abnormal_wound_healing1.09030544
67MP0003828_pulmonary_edema1.08762804
68MP0001958_emphysema1.07637431
69* MP0003866_abnormal_defecation1.04978079
70MP0008438_abnormal_cutaneous_collagen1.03118768
71MP0005164_abnormal_response_to1.02266272
72* MP0001851_eye_inflammation1.00938093
73MP0008961_abnormal_basal_metabolism0.97763842
74MP0003656_abnormal_erythrocyte_physiolo0.95022678
75MP0001849_ear_inflammation0.92510976
76MP0005174_abnormal_tail_pigmentation0.91847295
77* MP0002019_abnormal_tumor_incidence0.91314064
78MP0005390_skeleton_phenotype0.89683957
79MP0001915_intracranial_hemorrhage0.89140464
80* MP0005310_abnormal_salivary_gland0.89133353
81MP0002877_abnormal_melanocyte_morpholog0.87452055
82MP0004381_abnormal_hair_follicle0.86384473
83MP0003453_abnormal_keratinocyte_physiol0.85928310
84MP0002132_abnormal_respiratory_system0.82396442
85MP0006054_spinal_hemorrhage0.82255319
86MP0003091_abnormal_cell_migration0.81804996
87MP0003279_aneurysm0.81357909
88MP0009764_decreased_sensitivity_to0.80689247
89MP0003111_abnormal_nucleus_morphology0.79613766
90MP0003690_abnormal_glial_cell0.77253593
91MP0003075_altered_response_to0.77089103
92MP0005166_decreased_susceptibility_to0.76313299
93MP0003183_abnormal_peptide_metabolism0.75395493
94MP0003795_abnormal_bone_structure0.75125386
95MP0004185_abnormal_adipocyte_glucose0.74335169
96MP0000733_abnormal_muscle_development0.72846072
97* MP0001663_abnormal_digestive_system0.72651551
98MP0000604_amyloidosis0.71797411
99MP0009763_increased_sensitivity_to0.70342631
100MP0003077_abnormal_cell_cycle0.68791800
101MP0000767_abnormal_smooth_muscle0.68623259
102MP0001542_abnormal_bone_strength0.67568386
103MP0003045_fibrosis0.66660826
104MP0009931_abnormal_skin_appearance0.66092621
105* MP0000249_abnormal_blood_vessel0.65884820
106MP0002254_reproductive_system_inflammat0.64345914
107MP0008874_decreased_physiological_sensi0.64189915
108* MP0000313_abnormal_cell_death0.63484216
109MP0000569_abnormal_digit_pigmentation0.61775167
110MP0004858_abnormal_nervous_system0.61614275
111MP0008873_increased_physiological_sensi0.59420829
112MP0002138_abnormal_hepatobiliary_system0.58499169
113MP0005621_abnormal_cell_physiology0.58405417
114MP0008007_abnormal_cellular_replicative0.56829117
115MP0000350_abnormal_cell_proliferation0.56442397

Predicted human phenotypes

RankGene SetZ-score
1Eczematoid dermatitis (HP:0000976)4.97243518
2Recurrent abscess formation (HP:0002722)4.77663590
3Recurrent bacterial skin infections (HP:0005406)4.16920159
4Cellulitis (HP:0100658)4.08753478
5Recurrent fungal infections (HP:0002841)3.87751942
6Petechiae (HP:0000967)3.87512631
7IgM deficiency (HP:0002850)3.71012176
8Recurrent viral infections (HP:0004429)3.68381393
9Chronic otitis media (HP:0000389)3.58289206
10Spontaneous hematomas (HP:0007420)3.57493285
11Elevated erythrocyte sedimentation rate (HP:0003565)3.56658494
12Myositis (HP:0100614)3.45125665
13Prolonged bleeding time (HP:0003010)3.39932834
14Abnormal delayed hypersensitivity skin test (HP:0002963)3.34957867
15Inflammation of the large intestine (HP:0002037)3.31483283
16Gastrointestinal inflammation (HP:0004386)3.29275321
17Increased cerebral lipofuscin (HP:0011813)3.27289528
18Mediastinal lymphadenopathy (HP:0100721)3.26760703
19Abnormality of macrophages (HP:0004311)3.23334382
20Recurrent gram-negative bacterial infections (HP:0005420)3.15522703
21Meningitis (HP:0001287)3.14079666
22Chronic obstructive pulmonary disease (HP:0006510)3.11450594
23Obstructive lung disease (HP:0006536)3.11450594
24Impaired platelet aggregation (HP:0003540)3.09709713
25Abnormal platelet function (HP:0011869)3.09709713
26Recurrent skin infections (HP:0001581)2.99923023
27Nasal polyposis (HP:0100582)2.97250222
28Colitis (HP:0002583)2.94686271
29Gastrointestinal infarctions (HP:0005244)2.89898031
30Stomatitis (HP:0010280)2.89873324
31Systemic lupus erythematosus (HP:0002725)2.86785924
32Panhypogammaglobulinemia (HP:0003139)2.84775747
33Abnormality of the nasal mucosa (HP:0000433)2.83714043
34Papilloma (HP:0012740)2.80600042
35Verrucae (HP:0200043)2.80600042
36Chronic mucocutaneous candidiasis (HP:0002728)2.79706412
37Recurrent cutaneous fungal infections (HP:0011370)2.79706412
38Recurrent bronchitis (HP:0002837)2.78938892
39Orchitis (HP:0100796)2.78243770
40Autoimmune thrombocytopenia (HP:0001973)2.78202657
41Pustule (HP:0200039)2.76462323
42Interstitial pulmonary disease (HP:0006530)2.75365922
43Vasculitis (HP:0002633)2.73815981
44Increased neuronal autofluorescent lipopigment (HP:0002074)2.69958186
45Agammaglobulinemia (HP:0004432)2.65794364
46Epistaxis (HP:0000421)2.61511274
47Increased IgE level (HP:0003212)2.59857848
48Abnormality of the fingertips (HP:0001211)2.59615508
49Osteomyelitis (HP:0002754)2.59251278
50Hematochezia (HP:0002573)2.58217594
51Encephalitis (HP:0002383)2.56348685
52Vacuolated lymphocytes (HP:0001922)2.51910014
53Dysostosis multiplex (HP:0000943)2.50507645
54Peritonitis (HP:0002586)2.49711230
55Gingival bleeding (HP:0000225)2.45921261
56Gingivitis (HP:0000230)2.45326316
57Cerebral aneurysm (HP:0004944)2.44673085
58Abnormality of T cells (HP:0002843)2.43714897
59Leukocytosis (HP:0001974)2.43561793
60Arterial thrombosis (HP:0004420)2.42746361
61Abnormal platelet volume (HP:0011876)2.41221070
62Thrombocytosis (HP:0001894)2.40862660
63Urticaria (HP:0001025)2.39833283
64T lymphocytopenia (HP:0005403)2.36756102
65Abnormality of T cell physiology (HP:0011840)2.35463699
66Chest pain (HP:0100749)2.31363549
67Retrobulbar optic neuritis (HP:0100654)2.30528833
68Optic neuritis (HP:0100653)2.30528833
69Hypochromic anemia (HP:0001931)2.29884020
70Periodontitis (HP:0000704)2.29535842
71Episodic fever (HP:0001954)2.27758216
72Abnormality of T cell number (HP:0011839)2.27442833
73Polycythemia (HP:0001901)2.26559703
74Keratoconjunctivitis sicca (HP:0001097)2.25681125
75Increased IgM level (HP:0003496)2.25313422
76Abnormality of glycolipid metabolism (HP:0010969)2.23731564
77Abnormality of liposaccharide metabolism (HP:0010968)2.23731564
78Abnormality of glycosphingolipid metabolism (HP:0004343)2.23731564
79Amyloidosis (HP:0011034)2.20286215
80Mucopolysacchariduria (HP:0008155)2.13148155
81Urinary glycosaminoglycan excretion (HP:0003541)2.13148155
82Lymphopenia (HP:0001888)2.11657151
83Pulmonary infiltrates (HP:0002113)2.10789832
84Gastrointestinal stroma tumor (HP:0100723)2.10734016
85Myocardial infarction (HP:0001658)2.10377554
86Granulocytopenia (HP:0001913)2.08684704
87Hypergammaglobulinemia (HP:0010702)2.08533610
88Abnormality of cells of the lymphoid lineage (HP:0012140)2.08377164
89Loss of speech (HP:0002371)2.05963797
90Emphysema (HP:0002097)2.05850951
91Menorrhagia (HP:0000132)2.05735306
92Osteolytic defects of the hand bones (HP:0009699)2.04936857
93Osteolytic defects of the phalanges of the hand (HP:0009771)2.04936857
94Keratoconjunctivitis (HP:0001096)2.04911954
95Abnormality of polysaccharide metabolism (HP:0011012)2.04639237
96Abnormality of glycosaminoglycan metabolism (HP:0004371)2.04639237
97Abnormality of mucopolysaccharide metabolism (HP:0011020)2.04639237
98Thyroiditis (HP:0100646)2.04583994
99Hepatosplenomegaly (HP:0001433)2.04360267
100Fatigue (HP:0012378)2.04305493
101Disinhibition (HP:0000734)2.03216596
102Dilatation of the ascending aorta (HP:0005111)1.99989867
103Skin ulcer (HP:0200042)1.99508755
104Pulmonary embolism (HP:0002204)1.99459014
105Hypochromic microcytic anemia (HP:0004840)1.99419027
106Eosinophilia (HP:0001880)1.96466350
107Thoracic kyphosis (HP:0002942)1.96241664
108Abnormality of the peritoneum (HP:0002585)1.95869305
109Increased mean platelet volume (HP:0011877)1.95267252
110Glomerulonephritis (HP:0000099)1.92848663
111Spondylolisthesis (HP:0003302)1.92406180
112Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.92239824
113Purpura (HP:0000979)1.91415309
114Protrusio acetabuli (HP:0003179)1.91120414
115Hemoptysis (HP:0002105)1.90702534
116Segmental peripheral demyelination/remyelination (HP:0003481)1.89941410
117Sepsis (HP:0100806)1.89660518
118Hypertensive crisis (HP:0100735)1.89208708
119Restrictive lung disease (HP:0002091)1.88612420
120Abnormality of iron homeostasis (HP:0011031)1.88189874
121Vertebral compression fractures (HP:0002953)1.87729986
122IgA deficiency (HP:0002720)1.87642952
123Increased serum ferritin (HP:0003281)1.85420625

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K14.58830235
2EEF2K3.42941161
3PRPF4B3.41241418
4MAP3K103.11737004
5ERN13.04535215
6TRIB32.88584610
7PKN22.50221961
8BLK2.35696518
9STK102.23661715
10TYK22.15089823
11ZAP702.04579712
12TBK11.97113783
13JAK31.88405350
14MAP3K131.88072427
15CDK121.84608586
16TXK1.83800890
17GRK61.83688982
18EPHB11.81379537
19TGFBR21.80294618
20KIT1.74409885
21SMG11.72451976
22BTK1.72125558
23TAOK21.60808040
24IRAK41.57347787
25LRRK21.55728149
26CSF1R1.51347219
27SIK21.47993770
28HCK1.42436895
29MAP2K31.41006833
30IRAK31.40680849
31SYK1.37990672
32PTK61.37250700
33FES1.37228004
34MAP3K141.37226975
35TAOK31.36488094
36CSK1.32276410
37KDR1.32222713
38JAK11.29610591
39IKBKB1.26872187
40IKBKE1.26820961
41RPS6KA41.26744911
42MAP3K11.24500512
43PIM11.24492871
44CLK11.22073533
45PRKD21.21692609
46RIPK41.20960989
47CDC42BPA1.16894201
48PIM21.15278904
49ITK1.13572713
50LCK1.08544697
51KSR21.07862431
52BMX1.07138871
53MARK21.03691722
54ALK1.00729498
55CDK40.96386892
56TEC0.95295903
57CAMK1D0.95158094
58MAP3K110.94846815
59PAK40.93561698
60CHUK0.93484893
61TTN0.92830826
62CDK60.91827977
63LYN0.89066187
64SCYL20.88229539
65NEK20.87733945
66TESK20.86337010
67JAK20.86290554
68FGFR30.84783373
69PDPK10.83901492
70FGFR40.83579215
71MARK30.81141120
72STK240.80855529
73PDK10.79180530
74MAPK120.78712529
75TAOK10.77558107
76MAPK70.74728541
77CAMK1G0.74726625
78TNK20.74703639
79STK30.74311228
80STK40.73646812
81IRAK20.70559251
82SIK10.70236143
83MAP3K80.70051024
84TRPM70.69463510
85MOS0.67826432
86RIPK10.62068095
87DMPK0.61470650
88BMPR20.61166181
89NME20.58951799
90MAPKAPK20.58631154
91HIPK20.57756879
92RPS6KA60.56807913
93IRAK10.56397298
94MAP3K60.55696413
95PRKG20.55431891
96MAPK40.53476652
97MATK0.53137561
98FLT30.53075429
99MAP3K30.51504185
100SIK30.50692183
101PTK2B0.50059251
102YES10.49516530
103PRKCH0.48982492
104CDK90.47123380
105RPS6KL10.46528683
106RPS6KC10.46528683
107FYN0.46298967
108BRD40.46194505
109RET0.45268925
110EPHA30.44803040
111MTOR0.44663353
112CAMKK10.43742154
113PDGFRA0.42967932
114EGFR0.42937158
115RPS6KB20.42873379
116GRK70.42448555
117STK380.41517350
118ARAF0.41269867
119PDGFRB0.41262177
120FGR0.40520142
121MAPK110.39925354
122RPS6KA20.39863517
123TESK10.38521232
124ABL10.37663920
125MAP3K70.37040528
126ICK0.35943469
127PAK20.35215101
128RPS6KA10.34880405
129TGFBR10.34151914
130NLK0.31343735

Predicted pathways (KEGG)

RankGene SetZ-score
1B cell receptor signaling pathway_Homo sapiens_hsa046622.68795936
2* Leishmaniasis_Homo sapiens_hsa051402.57866072
3* Osteoclast differentiation_Homo sapiens_hsa043802.49776617
4Primary immunodeficiency_Homo sapiens_hsa053402.41397337
5NF-kappa B signaling pathway_Homo sapiens_hsa040642.25481875
6Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046662.09671810
7Measles_Homo sapiens_hsa051622.06762898
8Staphylococcus aureus infection_Homo sapiens_hsa051501.98543299
9Toll-like receptor signaling pathway_Homo sapiens_hsa046201.94535342
10Hematopoietic cell lineage_Homo sapiens_hsa046401.91165551
11Antigen processing and presentation_Homo sapiens_hsa046121.89262029
12Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.83525821
13Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.80650340
14Glycosaminoglycan degradation_Homo sapiens_hsa005311.79437398
15Acute myeloid leukemia_Homo sapiens_hsa052211.79043939
16Asthma_Homo sapiens_hsa053101.73074351
17* Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.68977485
18Shigellosis_Homo sapiens_hsa051311.67870810
19T cell receptor signaling pathway_Homo sapiens_hsa046601.66318926
20* Chronic myeloid leukemia_Homo sapiens_hsa052201.65513617
21* Toxoplasmosis_Homo sapiens_hsa051451.65276107
22Pertussis_Homo sapiens_hsa051331.61859120
23* Tuberculosis_Homo sapiens_hsa051521.59845173
24Jak-STAT signaling pathway_Homo sapiens_hsa046301.57742553
25Other glycan degradation_Homo sapiens_hsa005111.53624262
26Apoptosis_Homo sapiens_hsa042101.53188703
27Legionellosis_Homo sapiens_hsa051341.49301925
28TNF signaling pathway_Homo sapiens_hsa046681.45757970
29Herpes simplex infection_Homo sapiens_hsa051681.44506020
30Influenza A_Homo sapiens_hsa051641.42751788
31Allograft rejection_Homo sapiens_hsa053301.42509012
32* Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.42183382
33Chemokine signaling pathway_Homo sapiens_hsa040621.42136051
34NOD-like receptor signaling pathway_Homo sapiens_hsa046211.41168674
35Leukocyte transendothelial migration_Homo sapiens_hsa046701.38182073
36RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.37616654
37* Hepatitis B_Homo sapiens_hsa051611.37389000
38* Malaria_Homo sapiens_hsa051441.35053470
39* Intestinal immune network for IgA production_Homo sapiens_hsa046721.31884819
40Lysosome_Homo sapiens_hsa041421.31730714
41Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.31598622
42Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.29496016
43Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.26421023
44Platelet activation_Homo sapiens_hsa046111.26207405
45Viral myocarditis_Homo sapiens_hsa054161.23319180
46* AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.21928917
47Salmonella infection_Homo sapiens_hsa051321.17975212
48* Pancreatic cancer_Homo sapiens_hsa052121.12725703
49Graft-versus-host disease_Homo sapiens_hsa053321.12675398
50Neurotrophin signaling pathway_Homo sapiens_hsa047221.11262703
51Small cell lung cancer_Homo sapiens_hsa052221.06012743
52Transcriptional misregulation in cancer_Homo sapiens_hsa052021.03925202
53Viral carcinogenesis_Homo sapiens_hsa052031.03532723
54Non-small cell lung cancer_Homo sapiens_hsa052231.03018100
55Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.00118945
56Epstein-Barr virus infection_Homo sapiens_hsa051690.98663668
57Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.96949406
58* HTLV-I infection_Homo sapiens_hsa051660.95664863
59VEGF signaling pathway_Homo sapiens_hsa043700.95034349
60Bladder cancer_Homo sapiens_hsa052190.93328913
61* Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.91874569
62Hepatitis C_Homo sapiens_hsa051600.88798746
63Prolactin signaling pathway_Homo sapiens_hsa049170.88358827
64Notch signaling pathway_Homo sapiens_hsa043300.87023976
65Phospholipase D signaling pathway_Homo sapiens_hsa040720.83773026
66HIF-1 signaling pathway_Homo sapiens_hsa040660.81006912
67MicroRNAs in cancer_Homo sapiens_hsa052060.80615270
68Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.78093690
69Prion diseases_Homo sapiens_hsa050200.73111364
70Regulation of actin cytoskeleton_Homo sapiens_hsa048100.72546932
71Phagosome_Homo sapiens_hsa041450.69967388
72DNA replication_Homo sapiens_hsa030300.68829248
73GnRH signaling pathway_Homo sapiens_hsa049120.67635894
74* Endocytosis_Homo sapiens_hsa041440.67356481
75Insulin resistance_Homo sapiens_hsa049310.66367020
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.65284843
77Choline metabolism in cancer_Homo sapiens_hsa052310.64666028
78Autoimmune thyroid disease_Homo sapiens_hsa053200.62256010
79Lysine degradation_Homo sapiens_hsa003100.60991068
80* Proteoglycans in cancer_Homo sapiens_hsa052050.60705080
81* Amoebiasis_Homo sapiens_hsa051460.60327204
82Phosphatidylinositol signaling system_Homo sapiens_hsa040700.59441097
83mTOR signaling pathway_Homo sapiens_hsa041500.58609675
84Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.58537344
85* Colorectal cancer_Homo sapiens_hsa052100.58499242
86Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.57265026
87Focal adhesion_Homo sapiens_hsa045100.56567986
88Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.55630475
89ErbB signaling pathway_Homo sapiens_hsa040120.55521123
90Rap1 signaling pathway_Homo sapiens_hsa040150.54482428
91Base excision repair_Homo sapiens_hsa034100.54211028
92p53 signaling pathway_Homo sapiens_hsa041150.53943334
93Glioma_Homo sapiens_hsa052140.53497252
94Sphingolipid signaling pathway_Homo sapiens_hsa040710.53395826
95Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.52414636
96Prostate cancer_Homo sapiens_hsa052150.51122877
97* Rheumatoid arthritis_Homo sapiens_hsa053230.50454901
98* Renal cell carcinoma_Homo sapiens_hsa052110.50218810
99African trypanosomiasis_Homo sapiens_hsa051430.49920940
100Inositol phosphate metabolism_Homo sapiens_hsa005620.48935874
101* FoxO signaling pathway_Homo sapiens_hsa040680.47655837
102Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.47287915
103Endometrial cancer_Homo sapiens_hsa052130.40865988
104* MAPK signaling pathway_Homo sapiens_hsa040100.39181876
105Carbohydrate digestion and absorption_Homo sapiens_hsa049730.39103162
106Central carbon metabolism in cancer_Homo sapiens_hsa052300.38119027
107* Pathways in cancer_Homo sapiens_hsa052000.38108853
108Renin-angiotensin system_Homo sapiens_hsa046140.36856626
109Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.36456115
110Type I diabetes mellitus_Homo sapiens_hsa049400.35281121
111Thyroid hormone signaling pathway_Homo sapiens_hsa049190.35223438
112Pentose phosphate pathway_Homo sapiens_hsa000300.35151314
113Adherens junction_Homo sapiens_hsa045200.33829677
114Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.33747385

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