TBXAS1

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 cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G8.72934766
2negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.11974549
3negative regulation of cell killing (GO:0031342)5.11974549
4positive regulation by symbiont of host defense response (GO:0052509)5.04073288
5modulation by symbiont of host defense response (GO:0052031)5.04073288
6modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.04073288
7modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.04073288
8positive regulation by organism of defense response of other organism involved in symbiotic interact5.04073288
9modulation by symbiont of host immune response (GO:0052553)5.04073288
10neutrophil activation involved in immune response (GO:0002283)4.86249399
11negative regulation of interleukin-12 production (GO:0032695)4.85506004
12regulation of interferon-beta biosynthetic process (GO:0045357)4.66712531
13definitive hemopoiesis (GO:0060216)4.62259725
14response to peptidoglycan (GO:0032494)4.58677099
15immunoglobulin mediated immune response (GO:0016064)4.31606316
16detection of bacterium (GO:0016045)4.28479233
17positive regulation of interferon-alpha production (GO:0032727)4.15117278
18positive regulation of gamma-delta T cell activation (GO:0046645)4.12526789
19production of molecular mediator involved in inflammatory response (GO:0002532)4.11648560
20macrophage activation involved in immune response (GO:0002281)4.07385677
21antigen processing and presentation via MHC class Ib (GO:0002475)4.05598726
22regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.01289623
23positive regulation of mast cell activation (GO:0033005)3.99637116
24microglial cell activation (GO:0001774)3.94611391
25defense response to protozoan (GO:0042832)3.93776369
26regulation of gamma-delta T cell activation (GO:0046643)3.93547174
27regulation of interferon-alpha production (GO:0032647)3.88752917
28positive regulation of B cell differentiation (GO:0045579)3.84491909
29regulation of B cell receptor signaling pathway (GO:0050855)3.83587797
30response to interferon-beta (GO:0035456)3.83409593
31response to interferon-alpha (GO:0035455)3.80059419
32positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.77801033
33myeloid cell activation involved in immune response (GO:0002275)3.75947150
34regulation of myeloid leukocyte mediated immunity (GO:0002886)3.69430990
35detection of biotic stimulus (GO:0009595)3.66996351
36positive regulation of mast cell degranulation (GO:0043306)3.66735445
37positive regulation of mast cell activation involved in immune response (GO:0033008)3.66735445
38antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.65090711
39antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.65090711
40T-helper 1 type immune response (GO:0042088)3.63690303
41cellular response to thyroid hormone stimulus (GO:0097067)3.62646207
42response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.61642293
43response to host immune response (GO:0052572)3.61642293
44respiratory burst (GO:0045730)3.60027311
45endosome to melanosome transport (GO:0035646)3.58905551
46endosome to pigment granule transport (GO:0043485)3.58905551
47response to protozoan (GO:0001562)3.58206464
48positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.54467767
49regulation of leukocyte degranulation (GO:0043300)3.54148588
50mature B cell differentiation involved in immune response (GO:0002313)3.52382233
51leukocyte aggregation (GO:0070486)3.52328211
52cellular response to type I interferon (GO:0071357)3.51263922
53type I interferon signaling pathway (GO:0060337)3.51263922
54neutrophil activation (GO:0042119)3.48458283
55response to type I interferon (GO:0034340)3.48193986
56detection of other organism (GO:0098543)3.46622195
57platelet dense granule organization (GO:0060155)3.44290556
58megakaryocyte development (GO:0035855)3.40382153
59negative regulation of lymphocyte mediated immunity (GO:0002707)3.39846224
60antigen processing and presentation of endogenous antigen (GO:0019883)3.39010136
61granulocyte activation (GO:0036230)3.39008433
62regulation of interleukin-12 biosynthetic process (GO:0045075)3.37083457
63regulation of gamma-delta T cell differentiation (GO:0045586)3.36402696
64positive regulation of cellular amide metabolic process (GO:0034250)3.35696978
65mast cell activation (GO:0045576)3.34383568
66response to host (GO:0075136)3.33699938
67response to host defenses (GO:0052200)3.33699938
68response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.33699938
69cellular extravasation (GO:0045123)3.33583137
70negative regulation of interleukin-17 production (GO:0032700)3.31917902
71mature B cell differentiation (GO:0002335)3.28427334
72phagocytosis, engulfment (GO:0006911)3.26912450
73B cell mediated immunity (GO:0019724)3.26108929
74positive regulation of myeloid leukocyte mediated immunity (GO:0002888)3.25868894
75regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.24616300
76positive regulation of antigen processing and presentation (GO:0002579)3.23738136
77regulation of B cell differentiation (GO:0045577)3.22669091
78regulation of mast cell activation (GO:0033003)3.21731563
79negative regulation of erythrocyte differentiation (GO:0045647)3.21553678
80negative regulation of leukocyte mediated immunity (GO:0002704)3.21423627
81interferon-gamma-mediated signaling pathway (GO:0060333)3.20938953
82negative regulation of T cell mediated immunity (GO:0002710)3.20768484
83myeloid dendritic cell activation (GO:0001773)3.20636593
84superoxide anion generation (GO:0042554)3.19431496
85regulation of mast cell degranulation (GO:0043304)3.18486532
86macrophage activation (GO:0042116)3.18187516
87negative regulation of granulocyte differentiation (GO:0030853)3.17009267
88detection of molecule of bacterial origin (GO:0032490)3.15678352
89leukocyte migration involved in inflammatory response (GO:0002523)3.15434765
90lipopolysaccharide-mediated signaling pathway (GO:0031663)3.15122877
91negative regulation of viral genome replication (GO:0045071)3.14265407
92neutrophil mediated immunity (GO:0002446)3.13115906
93regulation of MHC class II biosynthetic process (GO:0045346)3.13097977
94response to muramyl dipeptide (GO:0032495)3.12983074
95germinal center formation (GO:0002467)3.12800006
96positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.11779459
97regulation of syncytium formation by plasma membrane fusion (GO:0060142)3.10985072
98pinocytosis (GO:0006907)3.06299672
99lymph node development (GO:0048535)3.04979035
100negative regulation of cytokine production involved in immune response (GO:0002719)3.03860917
101positive regulation of interferon-beta production (GO:0032728)3.03498350
102regulation of mast cell activation involved in immune response (GO:0033006)3.02280173
103myeloid leukocyte activation (GO:0002274)2.97829936
104regulation of dendritic cell antigen processing and presentation (GO:0002604)2.96665110
105regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.94541010
106regulation of regulated secretory pathway (GO:1903305)2.94054443
107positive regulation of leukocyte degranulation (GO:0043302)2.94030557
108G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.93100279
109leukocyte degranulation (GO:0043299)2.92547819
110ribosomal small subunit assembly (GO:0000028)2.88683264
111positive regulation of lymphocyte migration (GO:2000403)2.87069937
112regulation of tolerance induction (GO:0002643)2.86442678
113positive regulation of macrophage differentiation (GO:0045651)2.84782113
114negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.84724167
115positive thymic T cell selection (GO:0045059)2.83380162
116regulation of T-helper 2 cell differentiation (GO:0045628)2.83066891
117negative regulation of interleukin-6 production (GO:0032715)2.82774164
118regulation of chemokine biosynthetic process (GO:0045073)2.82746077
119adaptive immune response based on somatic recombination of immune receptors built from immunoglobuli2.82600240
120detection of external biotic stimulus (GO:0098581)2.82148425
121positive regulation of chemokine biosynthetic process (GO:0045080)2.81661641
122regulation of antigen processing and presentation (GO:0002577)2.81643221
123myeloid dendritic cell differentiation (GO:0043011)2.81614556
124B cell receptor signaling pathway (GO:0050853)2.80434127
125regulation of interleukin-17 production (GO:0032660)2.80013935
126positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.79436537
127negative regulation of innate immune response (GO:0045824)2.78359926
128positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.78305591
129regulation of T cell tolerance induction (GO:0002664)2.77658681
130positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.76993145
131regulation of interleukin-8 biosynthetic process (GO:0045414)2.75696312
132positive regulation of T cell mediated cytotoxicity (GO:0001916)2.75024369
133positive regulation of T cell migration (GO:2000406)2.74842990
134T cell migration (GO:0072678)2.74303360
135I-kappaB kinase/NF-kappaB signaling (GO:0007249)2.74015244
136myeloid leukocyte mediated immunity (GO:0002444)2.71458049
137neutrophil chemotaxis (GO:0030593)2.70126520

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human6.48853800
2IRF8_22096565_ChIP-ChIP_GC-B_Human6.40313978
3IRF8_21731497_ChIP-ChIP_J774_Mouse5.79190819
4SCL_19346495_ChIP-Seq_HPC-7_Human4.64779563
5IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.33019124
6MECOM_23826213_ChIP-Seq_KASUMI_Mouse4.25117948
7IRF8_27001747_Chip-Seq_BMDM_Mouse3.91635158
8SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.83271978
9IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.54016847
10NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.32028057
11STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.28699986
12SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.24873000
13FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.23660342
14RUNX1_20887958_ChIP-Seq_HPC-7_Mouse3.14147848
15* MYB_21317192_ChIP-Seq_ERMYB_Mouse2.92352063
16* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.84159966
17* SPI1_23547873_ChIP-Seq_NB4_Human2.72218434
18LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.69226756
19SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.60022571
20STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.49312124
21FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.48785419
22* STAT4_19710469_ChIP-ChIP_TH1__Mouse2.40712561
23MEIS1_20887958_ChIP-Seq_HPC-7_Mouse2.32226266
24LMO2_20887958_ChIP-Seq_HPC-7_Mouse2.28212062
25RUNX_20019798_ChIP-Seq_JUKART_Human2.18274718
26RUNX1_22412390_ChIP-Seq_EML_Mouse2.06982264
27GATA1_22025678_ChIP-Seq_K562_Human2.05794308
28NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.00130893
29VDR_24763502_ChIP-Seq_THP-1_Human1.90645289
30SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.90220377
31GATA2_21666600_ChIP-Seq_HMVEC_Human1.90044811
32NOTCH1_21737748_ChIP-Seq_TLL_Human1.89558884
33SPI1_23127762_ChIP-Seq_K562_Human1.87505313
34FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.83564014
35BRD4_27068464_Chip-Seq_AML-cells_Mouse1.81238406
36MYB_26560356_Chip-Seq_TH2_Human1.80261284
37ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.79956902
38TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.78549419
39EGR1_19374776_ChIP-ChIP_THP-1_Human1.75523080
40GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.75246308
41RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.73884294
42SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.69479521
43PU_27001747_Chip-Seq_BMDM_Mouse1.68547046
44VDR_21846776_ChIP-Seq_THP-1_Human1.65482945
45* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.61612207
46GATA2_22383799_ChIP-Seq_G1ME_Mouse1.59508673
47STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.57982082
48HOXB4_20404135_ChIP-ChIP_EML_Mouse1.56599880
49* CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.55675744
50MYB_26560356_Chip-Seq_TH1_Human1.54527225
51ELF1_17652178_ChIP-ChIP_JURKAT_Human1.51768320
52KDM2B_26808549_Chip-Seq_SUP-B15_Human1.50473914
53* PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.46963760
54MAF_26560356_Chip-Seq_TH1_Human1.46716348
55ERG_20887958_ChIP-Seq_HPC-7_Mouse1.42963345
56* GATA1_19941827_ChIP-Seq_MEL_Mouse1.38500338
57* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.36093306
58GATA1_22383799_ChIP-Seq_G1ME_Mouse1.35305745
59GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.27684745
60STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.25451816
61KDM2B_26808549_Chip-Seq_DND41_Human1.23356198
62KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.21940171
63E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.20710283
64* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.20053397
65GATA3_26560356_Chip-Seq_TH2_Human1.18477168
66* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.16444607
67BCL6_27268052_Chip-Seq_Bcells_Human1.15826598
68NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.15670941
69* VDR_24787735_ChIP-Seq_THP-1_Human1.15389943
70ELK3_25401928_ChIP-Seq_HUVEC_Human1.12625848
71VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.12488889
72* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.11961126
73THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.10502760
74TCF7_22412390_ChIP-Seq_EML_Mouse1.10142541
75* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.08178019
76* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.05474514
77GATA3_27048872_Chip-Seq_THYMUS_Human1.05192632
78UTX_26944678_Chip-Seq_JUKART_Human1.05087332
79GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.04106361
80LXR_22292898_ChIP-Seq_THP-1_Human1.03450355
81KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.03055476
82SRF_21415370_ChIP-Seq_HL-1_Mouse1.02387683
83* BCOR_27268052_Chip-Seq_Bcells_Human1.00510494
84* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.97415444
85E2F7_22180533_ChIP-Seq_HELA_Human0.95144775
86IKZF1_21737484_ChIP-ChIP_HCT116_Human0.94319213
87STAT6_21828071_ChIP-Seq_BEAS2B_Human0.93354739
88CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.92359255
89STAT1_20625510_ChIP-Seq_HELA_Human0.91409081
90* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.90222310
91ETS1_22383799_ChIP-Seq_G1ME_Mouse0.89522171
92* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88203240
93ELF1_20517297_ChIP-Seq_JURKAT_Human0.85767500
94* RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.85756032
95* NCOR1_26117541_ChIP-Seq_K562_Human0.84666250
96* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.84367773
97MYC_22102868_ChIP-Seq_BL_Human0.81696839
98PU.1_20513432_ChIP-Seq_Bcells_Mouse0.81162793
99CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.80921451
100* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.80579502
101FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.80443649
102NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.79259934
103* GATA2_19941826_ChIP-Seq_K562_Human0.79226162
104* VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.78270379
105SMAD_19615063_ChIP-ChIP_OVARY_Human0.77073801
106IGF1R_20145208_ChIP-Seq_DFB_Human0.76503292
107TFEB_21752829_ChIP-Seq_HELA_Human0.76454159
108* GATA1_19941827_ChIP-Seq_MEL86_Mouse0.74332875
109NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.71718826
110GATA1_19941826_ChIP-Seq_K562_Human0.71711805
111MAF_26560356_Chip-Seq_TH2_Human0.71164000
112EGR1_23403033_ChIP-Seq_LIVER_Mouse0.69404293
113GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.66836275
114VDR_23849224_ChIP-Seq_CD4+_Human0.60560134
115ELK1_19687146_ChIP-ChIP_HELA_Human0.60014294
116SPI1_20517297_ChIP-Seq_HL60_Human0.59054118
117CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.58979717
118* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.56116066
119* KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.53024155

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.65179031
2MP0009785_altered_susceptibility_to3.44302495
3MP0003436_decreased_susceptibility_to3.22712039
4MP0002148_abnormal_hypersensitivity_rea3.22281230
5MP0005671_abnormal_response_to3.10128633
6MP0002419_abnormal_innate_immunity3.04622197
7MP0006082_CNS_inflammation3.03621141
8MP0005025_abnormal_response_to2.89284153
9MP0005000_abnormal_immune_tolerance2.83189199
10MP0003724_increased_susceptibility_to2.82591733
11MP0005174_abnormal_tail_pigmentation2.81127897
12MP0000685_abnormal_immune_system2.80720504
13* MP0005464_abnormal_platelet_physiology2.80606316
14MP0005058_abnormal_lysosome_morphology2.80313543
15MP0002452_abnormal_antigen_presenting2.66897687
16MP0001800_abnormal_humoral_immune2.50340519
17MP0000569_abnormal_digit_pigmentation2.49964250
18MP0002723_abnormal_immune_serum2.48818421
19MP0005387_immune_system_phenotype2.44319740
20MP0001790_abnormal_immune_system2.44319740
21MP0001819_abnormal_immune_cell2.32026589
22MP0002420_abnormal_adaptive_immunity2.30815035
23MP0002396_abnormal_hematopoietic_system2.28656412
24MP0003172_abnormal_lysosome_physiology2.28540374
25MP0001545_abnormal_hematopoietic_system2.09660130
26MP0005397_hematopoietic_system_phenotyp2.09660130
27MP0000465_gastrointestinal_hemorrhage2.06929496
28MP0004808_abnormal_hematopoietic_stem2.04336390
29MP0003191_abnormal_cellular_cholesterol1.98097935
30MP0001853_heart_inflammation1.91250113
31MP0002398_abnormal_bone_marrow1.87999427
32MP0000015_abnormal_ear_pigmentation1.87330447
33MP0000716_abnormal_immune_system1.80628477
34MP0010155_abnormal_intestine_physiology1.76176812
35MP0005075_abnormal_melanosome_morpholog1.74274011
36MP0002405_respiratory_system_inflammati1.73165806
37MP0000689_abnormal_spleen_morphology1.72501070
38* MP0001845_abnormal_inflammatory_respons1.70354120
39MP0009278_abnormal_bone_marrow1.67646387
40MP0004510_myositis1.65116008
41MP0001533_abnormal_skeleton_physiology1.61777610
42MP0002429_abnormal_blood_cell1.55676782
43MP0002722_abnormal_immune_system1.54027575
44MP0008469_abnormal_protein_level1.53683731
45MP0009764_decreased_sensitivity_to1.50036189
46MP0002095_abnormal_skin_pigmentation1.48973714
47MP0003806_abnormal_nucleotide_metabolis1.47417990
48MP0005310_abnormal_salivary_gland1.44443094
49MP0000490_abnormal_crypts_of1.44370365
50MP0000343_altered_response_to1.41172152
51MP0003075_altered_response_to1.41165754
52MP0003303_peritoneal_inflammation1.36084720
53MP0001873_stomach_inflammation1.35926304
54MP0004947_skin_inflammation1.35870483
55MP0009333_abnormal_splenocyte_physiolog1.35754063
56MP0002166_altered_tumor_susceptibility1.34989611
57MP0002006_tumorigenesis1.34927802
58MP0000604_amyloidosis1.34623941
59MP0003763_abnormal_thymus_physiology1.33985331
60MP0005451_abnormal_body_composition1.33269803
61MP0004883_abnormal_blood_vessel1.28288235
62MP0004147_increased_porphyrin_level1.19825459
63MP0003183_abnormal_peptide_metabolism1.17937093
64MP0003866_abnormal_defecation1.14973919
65MP0003828_pulmonary_edema1.14261510
66MP0002132_abnormal_respiratory_system1.09939764
67MP0002998_abnormal_bone_remodeling1.09453633
68MP0001851_eye_inflammation1.08966894
69MP0005164_abnormal_response_to1.07225385
70MP0005166_decreased_susceptibility_to1.03789241
71MP0001986_abnormal_taste_sensitivity1.02681451
72MP0002933_joint_inflammation0.99552684
73MP0000371_diluted_coat_color0.96911851
74MP0009840_abnormal_foam_cell0.96062285
75MP0009763_increased_sensitivity_to0.91146827
76MP0002277_abnormal_respiratory_mucosa0.90460277
77MP0003656_abnormal_erythrocyte_physiolo0.88904270
78MP0000858_altered_metastatic_potential0.88103461
79MP0003943_abnormal_hepatobiliary_system0.87267264
80MP0003448_altered_tumor_morphology0.85826951
81MP0000703_abnormal_thymus_morphology0.85110936
82MP0005167_abnormal_blood-brain_barrier0.81989328
83MP0003690_abnormal_glial_cell0.79277829
84MP0005390_skeleton_phenotype0.77817465
85MP0008260_abnormal_autophagy0.77700291
86MP0002138_abnormal_hepatobiliary_system0.75673985
87MP0004782_abnormal_surfactant_physiolog0.73763070
88MP0003300_gastrointestinal_ulcer0.73395112
89MP0001188_hyperpigmentation0.72607365
90MP0003186_abnormal_redox_activity0.69120436
91MP0002075_abnormal_coat/hair_pigmentati0.68896261
92MP0008874_decreased_physiological_sensi0.68672528
93MP0002332_abnormal_exercise_endurance0.68600061
94MP0008007_abnormal_cellular_replicative0.66675389
95MP0000681_abnormal_thyroid_gland0.66054604
96MP0000249_abnormal_blood_vessel0.65832274
97MP0003795_abnormal_bone_structure0.63954495
98MP0004381_abnormal_hair_follicle0.63821644
99MP0008058_abnormal_DNA_repair0.61944219
100MP0006054_spinal_hemorrhage0.61673933
101MP0000920_abnormal_myelination0.60303612
102MP0010307_abnormal_tumor_latency0.60243876
103MP0009697_abnormal_copulation0.59860029
104MP0005165_increased_susceptibility_to0.59777915
105MP0003329_amyloid_beta_deposits0.59749712
106MP0001663_abnormal_digestive_system0.58770433
107MP0009765_abnormal_xenobiotic_induced0.58745944
108MP0005319_abnormal_enzyme/_coenzyme0.58546822
109MP0002139_abnormal_hepatobiliary_system0.56543526
110MP0000372_irregular_coat_pigmentation0.56441248
111MP0000767_abnormal_smooth_muscle0.54866566
112MP0008004_abnormal_stomach_pH0.54741589
113MP0005381_digestive/alimentary_phenotyp0.54145000
114MP0003279_aneurysm0.52136100
115MP0003453_abnormal_keratinocyte_physiol0.51971966
116MP0001186_pigmentation_phenotype0.50738056
117MP0005535_abnormal_body_temperature0.50433056
118MP0004130_abnormal_muscle_cell0.49269640
119MP0000609_abnormal_liver_physiology0.47356253

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)6.56452131
2Recurrent bacterial skin infections (HP:0005406)5.93087447
3Eczematoid dermatitis (HP:0000976)5.25845660
4Recurrent gram-negative bacterial infections (HP:0005420)4.55720631
5Myositis (HP:0100614)4.47125042
6Increased neuronal autofluorescent lipopigment (HP:0002074)4.44951990
7Vacuolated lymphocytes (HP:0001922)4.40832399
8Increased cerebral lipofuscin (HP:0011813)4.34801692
9Abnormality of macrophages (HP:0004311)4.22170688
10Recurrent skin infections (HP:0001581)3.90119145
11Systemic lupus erythematosus (HP:0002725)3.89810368
12Elevated erythrocyte sedimentation rate (HP:0003565)3.89399891
13Orchitis (HP:0100796)3.77751559
14Thrombocytosis (HP:0001894)3.71071770
15Retrobulbar optic neuritis (HP:0100654)3.68635686
16Optic neuritis (HP:0100653)3.68635686
17Mediastinal lymphadenopathy (HP:0100721)3.61823964
18Recurrent fungal infections (HP:0002841)3.54496872
19Petechiae (HP:0000967)3.50579567
20Prostate neoplasm (HP:0100787)3.40835981
21* Prolonged bleeding time (HP:0003010)3.39007536
22Periodontitis (HP:0000704)3.38962001
23Gastrointestinal infarctions (HP:0005244)3.18014654
24Glomerulonephritis (HP:0000099)3.16356143
25Chronic obstructive pulmonary disease (HP:0006510)3.14787440
26Obstructive lung disease (HP:0006536)3.14787440
27Gingivitis (HP:0000230)3.11551458
28* Epistaxis (HP:0000421)3.07607985
29Cellulitis (HP:0100658)3.05296331
30Recurrent viral infections (HP:0004429)3.00766513
31Arterial thrombosis (HP:0004420)3.00231760
32Abnormality of the prostate (HP:0008775)2.99571992
33IgM deficiency (HP:0002850)2.98528412
34Vasculitis (HP:0002633)2.98424371
35Gingival bleeding (HP:0000225)2.98154667
36Amyloidosis (HP:0011034)2.95188135
37Meningitis (HP:0001287)2.87811589
38Chronic otitis media (HP:0000389)2.87687923
39Agnosia (HP:0010524)2.84301983
40Albinism (HP:0001022)2.83775471
41T lymphocytopenia (HP:0005403)2.81910969
42Chronic mucocutaneous candidiasis (HP:0002728)2.80768918
43Recurrent cutaneous fungal infections (HP:0011370)2.80768918
44Abnormality of T cell number (HP:0011839)2.76787392
45Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.74737999
46Abnormality of liposaccharide metabolism (HP:0010968)2.71526133
47Abnormality of glycosphingolipid metabolism (HP:0004343)2.71526133
48Abnormality of glycolipid metabolism (HP:0010969)2.71526133
49Dysostosis multiplex (HP:0000943)2.67743950
50Spontaneous hematomas (HP:0007420)2.66654445
51Autoimmune thrombocytopenia (HP:0001973)2.66221047
52Increased IgE level (HP:0003212)2.63607901
53Purpura (HP:0000979)2.63244616
54Hematochezia (HP:0002573)2.61439318
55Episodic fever (HP:0001954)2.60577359
56Impaired platelet aggregation (HP:0003540)2.60285310
57Abnormal platelet function (HP:0011869)2.60285310
58Increased IgM level (HP:0003496)2.59219077
59Basal ganglia calcification (HP:0002135)2.57030695
60Increased serum ferritin (HP:0003281)2.53739896
61Reduced antithrombin III activity (HP:0001976)2.50895705
62Stomatitis (HP:0010280)2.50760145
63Recurrent pneumonia (HP:0006532)2.48876240
64Pulmonary embolism (HP:0002204)2.48473003
65Gastrointestinal stroma tumor (HP:0100723)2.43411552
66Disinhibition (HP:0000734)2.42323553
67Osteomyelitis (HP:0002754)2.40885410
68Abnormal delayed hypersensitivity skin test (HP:0002963)2.40564842
69Anorexia (HP:0002039)2.37439254
70Abnormality of T cells (HP:0002843)2.35520750
71Abnormality of iron homeostasis (HP:0011031)2.34855557
72Axonal loss (HP:0003447)2.31690373
73Leukocytosis (HP:0001974)2.30996790
74Pustule (HP:0200039)2.29792203
75Menorrhagia (HP:0000132)2.28937558
76Gangrene (HP:0100758)2.28721808
77Abnormality of the vasculature of the conjunctiva (HP:0008054)2.27542348
78Abnormality of polysaccharide metabolism (HP:0011012)2.25333010
79Abnormality of glycosaminoglycan metabolism (HP:0004371)2.25333010
80Abnormality of mucopolysaccharide metabolism (HP:0011020)2.25333010
81Urinary glycosaminoglycan excretion (HP:0003541)2.25294953
82Mucopolysacchariduria (HP:0008155)2.25294953
83Chronic diarrhea (HP:0002028)2.24111619
84Granulocytopenia (HP:0001913)2.24109141
85Keratoconjunctivitis sicca (HP:0001097)2.23180813
86Amaurosis fugax (HP:0100576)2.22554079
87Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.22466311
88Vertigo (HP:0002321)2.20865054
89Thoracic kyphosis (HP:0002942)2.20468225
90Mutism (HP:0002300)2.19113303
91Hemoptysis (HP:0002105)2.18974082
92Type I transferrin isoform profile (HP:0003642)2.17807214
93Urticaria (HP:0001025)2.17450588
94Abnormality of the pleura (HP:0002103)2.16512960
95Agammaglobulinemia (HP:0004432)2.16406809
96Recurrent lower respiratory tract infections (HP:0002783)2.15457513
97Polyneuropathy (HP:0001271)2.15412439
98Interstitial pulmonary disease (HP:0006530)2.15259965
99Pulmonary infiltrates (HP:0002113)2.15069227
100Panhypogammaglobulinemia (HP:0003139)2.13585729
101Hypergammaglobulinemia (HP:0010702)2.12707444
102Autoimmune hemolytic anemia (HP:0001890)2.09429576
103Inflammation of the large intestine (HP:0002037)2.09157396
104Aplastic anemia (HP:0001915)2.09033386
105Hypothermia (HP:0002045)2.07556325
106Loss of speech (HP:0002371)2.06673762
107Lymphopenia (HP:0001888)2.05365404
108Abnormal platelet volume (HP:0011876)2.05066813
109Glomerulopathy (HP:0100820)2.04247224
110Premature loss of primary teeth (HP:0006323)2.04166211
111Acute myeloid leukemia (HP:0004808)2.03820139
112Keratoconjunctivitis (HP:0001096)2.01862908
113Hepatosplenomegaly (HP:0001433)2.01170167
114Abnormality of T cell physiology (HP:0011840)2.00479686
115Abnormality of transition element cation homeostasis (HP:0011030)1.98951643
116Gastrointestinal inflammation (HP:0004386)1.98944071
117Hypochromic anemia (HP:0001931)1.98371017
118Encephalitis (HP:0002383)1.98212148
119Peritonitis (HP:0002586)1.97719142
120Sepsis (HP:0100806)1.96775769
121Chest pain (HP:0100749)1.94918172
122Abnormality of cells of the lymphoid lineage (HP:0012140)1.94275557
123Nephritis (HP:0000123)1.93405983
124Abnormality of the heme biosynthetic pathway (HP:0010472)1.93055354
125Colitis (HP:0002583)1.92514644
126Poikiloderma (HP:0001029)1.91989726
127J-shaped sella turcica (HP:0002680)1.91118096
128Eosinophilia (HP:0001880)1.91027734
129Hypochromic microcytic anemia (HP:0004840)1.89329840
130Acne (HP:0001061)1.85569629

Predicted kinase interactions (KEA)

RankGene SetZ-score
1KIT3.70907331
2RIPK43.55262361
3IRAK43.17075476
4TGFBR23.01354323
5BLK2.85979310
6IRAK32.74475670
7MAP3K142.68011626
8MAP4K12.63989041
9TXK2.62023557
10TBK12.30733381
11TEC2.16959558
12IKBKE2.09889397
13TNIK2.07777099
14JAK32.06957857
15GRK62.06807999
16FGR2.05754477
17CSF1R2.05624504
18IKBKB2.04075587
19TYK21.93050644
20BTK1.93034499
21MATK1.93005985
22TGFBR11.92838078
23NME21.89217166
24MAP3K111.84317151
25PRPF4B1.73537325
26MAP3K31.68109651
27TIE11.66836982
28MAP2K31.65815413
29TAOK11.52734764
30ACVR1B1.50793367
31SYK1.50070523
32MUSK1.49375078
33ZAP701.47073551
34FES1.44391327
35ADRBK21.42036304
36BMPR1B1.38685895
37PIK3CG1.38264753
38TAOK31.37665672
39PIM21.36713841
40MAP3K121.35483343
41LYN1.33537169
42GRK71.32499474
43TAOK21.30561314
44FLT31.29564704
45MAP3K11.27938248
46LCK1.18029558
47YES11.16331385
48HCK1.14179051
49JAK11.09629234
50TESK21.08915286
51CHUK1.04963673
52NLK1.01449818
53CAMK1D0.95686382
54SIK30.93328956
55PIM10.93289674
56IRAK10.90972745
57MAP3K130.88140744
58CAMKK20.87684292
59MKNK10.85391426
60CLK10.84872831
61CDK80.84690979
62CDK190.82246303
63NEK90.82087280
64DAPK20.79850537
65EIF2AK20.77592273
66RPS6KA40.69495421
67PDPK10.69172578
68BCKDK0.68888859
69VRK10.68871893
70MAP3K50.67817156
71CSK0.66077687
72MAPKAPK50.66037107
73TRPM70.63440179
74MARK20.60710034
75STK160.60531795
76JAK20.60273116
77MOS0.59330450
78FYN0.58342808
79LRRK20.58264255
80KSR20.57970713
81ERN10.57938838
82PTK2B0.57772994
83MAPK150.57702758
84CDC42BPA0.56824173
85PRKCQ0.54565594
86PRKCD0.54136231
87MAP3K60.52090103
88PRKG20.51204883
89MARK30.50055459
90MAPK70.47760842
91CCNB10.47206366
92PRKD20.46735127
93FGFR30.46675844
94HIPK20.46665776
95MKNK20.46508956
96ITK0.46502885
97RPS6KA60.46136449
98STK40.46015917
99CDK60.44825330
100MAP2K60.44696217
101IRAK20.44171467
102BMPR20.42442762
103CAMKK10.41906452
104MAP2K70.40171951
105ABL10.39509149
106ZAK0.39414573
107PAK40.38988927
108BMX0.38982221
109PIK3CA0.38904561
110MAPK40.37823118
111DYRK1B0.37495506
112TNK20.36959911
113NEK60.36504859
114PTK60.36064554
115STK100.35474006
116SIK20.35184891
117EPHA30.34786359
118MAP3K20.33958668
119RPS6KA50.33395120
120MAPK120.32718137
121EPHB10.32632982
122MAP2K40.31641991
123IGF1R0.29954738
124RPS6KB20.29903697
125KDR0.29108380
126MAPKAPK20.28632765
127ABL20.28567548
128MAPK30.28534226
129RPS6KC10.28497829
130RPS6KL10.28497829
131EEF2K0.28423773
132RAF10.27950926
133CAMK10.27307444
134PDK10.27219176
135STK110.23990520
136GRK50.22657562
137PRKD10.21701870

Predicted pathways (KEGG)

RankGene SetZ-score
1Leishmaniasis_Homo sapiens_hsa051403.24480181
2Staphylococcus aureus infection_Homo sapiens_hsa051502.94423185
3Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.67397532
4Other glycan degradation_Homo sapiens_hsa005112.54561868
5Toll-like receptor signaling pathway_Homo sapiens_hsa046202.49723263
6Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.45046040
7Glycosaminoglycan degradation_Homo sapiens_hsa005312.32514772
8NF-kappa B signaling pathway_Homo sapiens_hsa040642.31337329
9Osteoclast differentiation_Homo sapiens_hsa043802.30876681
10Pertussis_Homo sapiens_hsa051332.20320455
11Measles_Homo sapiens_hsa051622.14639691
12Legionellosis_Homo sapiens_hsa051342.13861489
13RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.12600633
14Intestinal immune network for IgA production_Homo sapiens_hsa046722.06548263
15Hematopoietic cell lineage_Homo sapiens_hsa046402.06337319
16B cell receptor signaling pathway_Homo sapiens_hsa046621.97520344
17Malaria_Homo sapiens_hsa051441.94714396
18Allograft rejection_Homo sapiens_hsa053301.94175870
19Rheumatoid arthritis_Homo sapiens_hsa053231.91503703
20NOD-like receptor signaling pathway_Homo sapiens_hsa046211.91489091
21Lysosome_Homo sapiens_hsa041421.89943535
22Tuberculosis_Homo sapiens_hsa051521.88163366
23Asthma_Homo sapiens_hsa053101.75514988
24Graft-versus-host disease_Homo sapiens_hsa053321.70174045
25Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.61843251
26Jak-STAT signaling pathway_Homo sapiens_hsa046301.60755888
27Influenza A_Homo sapiens_hsa051641.60231022
28Primary immunodeficiency_Homo sapiens_hsa053401.60224308
29Herpes simplex infection_Homo sapiens_hsa051681.59969020
30Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.47833411
31TNF signaling pathway_Homo sapiens_hsa046681.39130933
32Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.37579722
33Salmonella infection_Homo sapiens_hsa051321.34828809
34Antigen processing and presentation_Homo sapiens_hsa046121.34033789
35Toxoplasmosis_Homo sapiens_hsa051451.30098078
36Phagosome_Homo sapiens_hsa041451.28214507
37Transcriptional misregulation in cancer_Homo sapiens_hsa052021.22622734
38Chemokine signaling pathway_Homo sapiens_hsa040621.19149212
39Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.18937176
40Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.15139959
41SNARE interactions in vesicular transport_Homo sapiens_hsa041301.14871234
42Apoptosis_Homo sapiens_hsa042101.14436333
43Shigellosis_Homo sapiens_hsa051311.13959556
44African trypanosomiasis_Homo sapiens_hsa051431.09999122
45Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.09834277
46* Platelet activation_Homo sapiens_hsa046111.08822991
47Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.08640134
48Acute myeloid leukemia_Homo sapiens_hsa052211.08054716
49Hepatitis B_Homo sapiens_hsa051611.07916862
50Ribosome_Homo sapiens_hsa030101.04823078
51Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.01811430
52Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.98178987
53Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.96749699
54Caffeine metabolism_Homo sapiens_hsa002320.92431288
55Type I diabetes mellitus_Homo sapiens_hsa049400.86289632
56Autoimmune thyroid disease_Homo sapiens_hsa053200.84163008
57Hepatitis C_Homo sapiens_hsa051600.82305024
58DNA replication_Homo sapiens_hsa030300.78675486
59Leukocyte transendothelial migration_Homo sapiens_hsa046700.77020535
60Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.76887229
61Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.76598813
62Complement and coagulation cascades_Homo sapiens_hsa046100.74782113
63AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.74178220
64Base excision repair_Homo sapiens_hsa034100.73557458
65Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.72175931
66Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.69705051
67Non-small cell lung cancer_Homo sapiens_hsa052230.68122563
68Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.67106880
69Collecting duct acid secretion_Homo sapiens_hsa049660.66152281
70Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.64580453
71Homologous recombination_Homo sapiens_hsa034400.64303471
72VEGF signaling pathway_Homo sapiens_hsa043700.63788524
73T cell receptor signaling pathway_Homo sapiens_hsa046600.61824745
74Endocytosis_Homo sapiens_hsa041440.55765382
75Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.54651423
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.53681661
77Pancreatic cancer_Homo sapiens_hsa052120.53288397
78Sphingolipid metabolism_Homo sapiens_hsa006000.52852939
79Chronic myeloid leukemia_Homo sapiens_hsa052200.52395974
80Prolactin signaling pathway_Homo sapiens_hsa049170.51410917
81Mismatch repair_Homo sapiens_hsa034300.51138623
82Pentose and glucuronate interconversions_Homo sapiens_hsa000400.50169670
83N-Glycan biosynthesis_Homo sapiens_hsa005100.48804249
84Epstein-Barr virus infection_Homo sapiens_hsa051690.47423485
85Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.46385526
86Systemic lupus erythematosus_Homo sapiens_hsa053220.44936280
87ABC transporters_Homo sapiens_hsa020100.41993688
88Phospholipase D signaling pathway_Homo sapiens_hsa040720.41521639
89Neurotrophin signaling pathway_Homo sapiens_hsa047220.40337105
90Fanconi anemia pathway_Homo sapiens_hsa034600.39285791
91* Arachidonic acid metabolism_Homo sapiens_hsa005900.37813369
92Amoebiasis_Homo sapiens_hsa051460.36812355
93Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.35593429
94Notch signaling pathway_Homo sapiens_hsa043300.34900373
95Pyrimidine metabolism_Homo sapiens_hsa002400.34466658
96Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.34383885
97Sphingolipid signaling pathway_Homo sapiens_hsa040710.33909622
98Dorso-ventral axis formation_Homo sapiens_hsa043200.32533585
99GnRH signaling pathway_Homo sapiens_hsa049120.31714764
100Glycerophospholipid metabolism_Homo sapiens_hsa005640.31669714
101Renal cell carcinoma_Homo sapiens_hsa052110.30025427
102Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.29208711
103Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.28659035
104HIF-1 signaling pathway_Homo sapiens_hsa040660.28246856
105Bladder cancer_Homo sapiens_hsa052190.28017829
106Regulation of autophagy_Homo sapiens_hsa041400.27192594
107FoxO signaling pathway_Homo sapiens_hsa040680.26785662
108HTLV-I infection_Homo sapiens_hsa051660.26372327
109Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.25571200
110Folate biosynthesis_Homo sapiens_hsa007900.25405391
111Viral carcinogenesis_Homo sapiens_hsa052030.25164402
112MAPK signaling pathway_Homo sapiens_hsa040100.25039943
113Viral myocarditis_Homo sapiens_hsa054160.24430269
114Type II diabetes mellitus_Homo sapiens_hsa049300.24027310
115Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.22313402
116Insulin resistance_Homo sapiens_hsa049310.21923700
117Phosphatidylinositol signaling system_Homo sapiens_hsa040700.21119063
118p53 signaling pathway_Homo sapiens_hsa041150.20900254
119Nucleotide excision repair_Homo sapiens_hsa034200.20867105
120Carbohydrate digestion and absorption_Homo sapiens_hsa049730.20770508
121Small cell lung cancer_Homo sapiens_hsa052220.20343106
122Prion diseases_Homo sapiens_hsa050200.19504324

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