BST1

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: Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neutrophil activation involved in immune response (GO:0002283)6.03206080
2positive regulation by symbiont of host defense response (GO:0052509)5.91152687
3modulation by symbiont of host defense response (GO:0052031)5.91152687
4modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.91152687
5modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.91152687
6positive regulation by organism of defense response of other organism involved in symbiotic interact5.91152687
7modulation by symbiont of host immune response (GO:0052553)5.91152687
8negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.48303002
9negative regulation of cell killing (GO:0031342)5.48303002
10antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.36766100
11respiratory burst (GO:0045730)5.02782481
12response to peptidoglycan (GO:0032494)4.86326783
13antigen processing and presentation of endogenous antigen (GO:0019883)4.71247389
14cellular extravasation (GO:0045123)4.63622922
15granulocyte activation (GO:0036230)4.50286671
16superoxide anion generation (GO:0042554)4.49794458
17neutrophil activation (GO:0042119)4.48183731
18antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.45525194
19hydrogen peroxide biosynthetic process (GO:0050665)4.44664096
20macrophage activation involved in immune response (GO:0002281)4.40471950
21production of molecular mediator involved in inflammatory response (GO:0002532)4.37047996
22response to host immune response (GO:0052572)4.35679031
23response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.35679031
24leukocyte migration involved in inflammatory response (GO:0002523)4.29083298
25positive regulation of interferon-alpha production (GO:0032727)4.22974281
26immunoglobulin mediated immune response (GO:0016064)4.10452152
27detection of biotic stimulus (GO:0009595)4.09064917
28positive regulation of mast cell degranulation (GO:0043306)4.02697965
29positive regulation of mast cell activation involved in immune response (GO:0033008)4.02697965
30antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.99695371
31regulation of interferon-alpha production (GO:0032647)3.97597644
32response to host (GO:0075136)3.93464966
33response to host defenses (GO:0052200)3.93464966
34response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.93464966
35reactive oxygen species biosynthetic process (GO:1903409)3.91803371
36regulation of gamma-delta T cell activation (GO:0046643)3.86658959
37regulation of interferon-beta biosynthetic process (GO:0045357)3.86388333
38negative regulation of lymphocyte mediated immunity (GO:0002707)3.85830850
39lipopolysaccharide-mediated signaling pathway (GO:0031663)3.85563816
40regulation of mast cell degranulation (GO:0043304)3.81662249
41positive regulation of mast cell activation (GO:0033005)3.75845636
42leukocyte aggregation (GO:0070486)3.71282534
43negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.63679974
44positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.58983419
45myeloid cell activation involved in immune response (GO:0002275)3.56277619
46regulation of mast cell activation involved in immune response (GO:0033006)3.55818496
47negative regulation of leukocyte mediated immunity (GO:0002704)3.44981138
48negative regulation of T cell mediated immunity (GO:0002710)3.43540736
49myeloid leukocyte mediated immunity (GO:0002444)3.42706793
50leukocyte degranulation (GO:0043299)3.42212055
51regulation of mast cell activation (GO:0033003)3.39211224
52detection of molecule of bacterial origin (GO:0032490)3.37898907
53response to type I interferon (GO:0034340)3.37392241
54cellular response to type I interferon (GO:0071357)3.36568307
55type I interferon signaling pathway (GO:0060337)3.36568307
56regulation of B cell receptor signaling pathway (GO:0050855)3.36208690
57detection of other organism (GO:0098543)3.34635317
58positive regulation of myeloid leukocyte mediated immunity (GO:0002888)3.33308297
59macrophage activation (GO:0042116)3.32248634
60regulation of myeloid leukocyte mediated immunity (GO:0002886)3.31066909
61microglial cell activation (GO:0001774)3.30344604
62positive regulation of cellular amide metabolic process (GO:0034250)3.29157225
63positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.27472409
64regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.26687820
65regulation of leukocyte degranulation (GO:0043300)3.24078547
66response to muramyl dipeptide (GO:0032495)3.23004967
67positive regulation of monocyte chemotaxis (GO:0090026)3.21839953
68positive regulation of B cell differentiation (GO:0045579)3.20815881
69positive regulation of leukocyte degranulation (GO:0043302)3.18562427
70interferon-gamma-mediated signaling pathway (GO:0060333)3.18493083
71negative regulation of interleukin-6 production (GO:0032715)3.17167666
72lymphocyte chemotaxis (GO:0048247)3.16394135
73positive regulation of chemokine biosynthetic process (GO:0045080)3.14712865
74positive regulation of toll-like receptor signaling pathway (GO:0034123)3.14147986
75regulation of gamma-delta T cell differentiation (GO:0045586)3.14054015
76T cell migration (GO:0072678)3.13748328
77neutrophil chemotaxis (GO:0030593)3.11894205
78histamine secretion (GO:0001821)3.10849560
79regulation of dendritic cell antigen processing and presentation (GO:0002604)3.10184873
80negative regulation of interleukin-1 production (GO:0032692)3.10147245
81regulation of B cell differentiation (GO:0045577)3.09199960
82response to interleukin-15 (GO:0070672)3.08651958
83negative regulation of T-helper cell differentiation (GO:0045623)3.07944447
84negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.07944447
85positive regulation of gamma-delta T cell activation (GO:0046645)3.07877392
86defense response to protozoan (GO:0042832)3.07853445
87positive regulation of interferon-beta production (GO:0032728)3.07664457
88positive regulation of antigen processing and presentation (GO:0002579)3.06184328
89T-helper 1 type immune response (GO:0042088)3.05409702
90neutrophil migration (GO:1990266)3.05000561
91regulation of antigen processing and presentation (GO:0002577)3.04992913
92positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.04979683
93positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.03795429
94negative regulation of phagocytosis (GO:0050765)3.03235627
95B cell receptor signaling pathway (GO:0050853)3.02135906
96regulation of tolerance induction (GO:0002643)3.01314598
97detection of external biotic stimulus (GO:0098581)2.99869031
98regulation of regulated secretory pathway (GO:1903305)2.98374151
99regulation of T-helper 2 cell differentiation (GO:0045628)2.97297523
100germinal center formation (GO:0002467)2.96875878
101negative regulation of erythrocyte differentiation (GO:0045647)2.96817549
102B cell mediated immunity (GO:0019724)2.96504808
103detection of bacterium (GO:0016045)2.94776848
104antigen processing and presentation via MHC class Ib (GO:0002475)2.94678958
105regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.94170905
106Arp2/3 complex-mediated actin nucleation (GO:0034314)2.93891833
107negative regulation of cytokine production involved in immune response (GO:0002719)2.93005685
108positive regulation of interleukin-1 beta secretion (GO:0050718)2.90542243
109leukotriene metabolic process (GO:0006691)2.89702142
110myeloid leukocyte activation (GO:0002274)2.89560233
111myeloid dendritic cell differentiation (GO:0043011)2.89307904
112regulation of interleukin-8 biosynthetic process (GO:0045414)2.89246159
113regulation of mononuclear cell migration (GO:0071675)2.88834910
114negative regulation of interleukin-12 production (GO:0032695)2.87970396
115leukocyte cell-cell adhesion (GO:0007159)2.87634905
116regulation of T cell tolerance induction (GO:0002664)2.87582959
117positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.86902685
118leukocyte mediated cytotoxicity (GO:0001909)2.84899688
119neutrophil mediated immunity (GO:0002446)2.84038831
120negative regulation of innate immune response (GO:0045824)2.82746393
121dendritic cell chemotaxis (GO:0002407)2.82039422
122positive regulation of type 2 immune response (GO:0002830)2.81773800
123negative regulation of viral genome replication (GO:0045071)2.81189738
124response to interferon-alpha (GO:0035455)2.81157748
125myeloid dendritic cell activation (GO:0001773)2.80758203
126regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.79338813
127regulation of monocyte chemotaxis (GO:0090025)2.78729013
128response to protozoan (GO:0001562)2.78518841
129cytokine secretion (GO:0050663)2.78370439
130dendritic cell migration (GO:0036336)2.76944367
131response to fungus (GO:0009620)2.76889766
132granulocyte chemotaxis (GO:0071621)2.76649774
133positive regulation of lymphocyte migration (GO:2000403)2.73463997
134granulocyte migration (GO:0097530)2.72601401
135regulation of integrin activation (GO:0033623)2.71977442
136negative regulation of mast cell activation (GO:0033004)2.71728375
137lipoxygenase pathway (GO:0019372)2.70954185
138natural killer cell mediated immunity (GO:0002228)2.70839840
139natural killer cell mediated cytotoxicity (GO:0042267)2.70839840

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.11846964
2IRF8_21731497_ChIP-ChIP_J774_Mouse6.57920317
3IRF8_22096565_ChIP-ChIP_GC-B_Human5.74622405
4* IRF8_27001747_Chip-Seq_BMDM_Mouse4.27330676
5SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse4.08487367
6IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.88156646
7IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.64168514
8NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.54622783
9FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.43504164
10* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse3.41627728
11* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.25384955
12MYB_21317192_ChIP-Seq_ERMYB_Mouse3.19104883
13STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.94227102
14RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.90750726
15TP63_17297297_ChIP-ChIP_HaCaT_Human2.90180885
16EGR1_19374776_ChIP-ChIP_THP-1_Human2.89724281
17STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.69512113
18* SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.43828227
19STAT4_19710469_ChIP-ChIP_TH1__Mouse2.40612308
20NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.34654650
21BRD4_27068464_Chip-Seq_AML-cells_Mouse2.16195834
22SPI1_23547873_ChIP-Seq_NB4_Human2.05788925
23STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.93989352
24NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.93710306
25PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.88302790
26VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.82959045
27VDR_24763502_ChIP-Seq_THP-1_Human1.79851585
28VDR_24787735_ChIP-Seq_THP-1_Human1.78159350
29GATA2_21666600_ChIP-Seq_HMVEC_Human1.71173169
30RUNX_20019798_ChIP-Seq_JUKART_Human1.69937914
31SPI1_23127762_ChIP-Seq_K562_Human1.68914594
32MYB_26560356_Chip-Seq_TH2_Human1.68498961
33RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.67933969
34PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.66636086
35SCL_19346495_ChIP-Seq_HPC-7_Human1.65378433
36PU_27001747_Chip-Seq_BMDM_Mouse1.63473971
37RUNX1_22412390_ChIP-Seq_EML_Mouse1.59892494
38CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.58301377
39CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.53212331
40STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.53036059
41FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.52895572
42TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.49733335
43SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.49159775
44MAF_26560356_Chip-Seq_TH1_Human1.46131230
45MAF_26560356_Chip-Seq_TH2_Human1.39228980
46MYB_26560356_Chip-Seq_TH1_Human1.35825757
47THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.35385228
48VDR_21846776_ChIP-Seq_THP-1_Human1.29564720
49TRIM28_21343339_ChIP-Seq_HEK293_Human1.29424220
50NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.29280976
51CDX2_20551321_ChIP-Seq_CACO-2_Human1.29049889
52MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.26347682
53SMAD_19615063_ChIP-ChIP_OVARY_Human1.26024816
54GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.25789390
55CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.24209239
56VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.23808504
57ELF1_17652178_ChIP-ChIP_JURKAT_Human1.21966205
58CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.21195617
59LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.20857016
60TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.19823336
61ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.19507346
62E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.17566636
63* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.12127672
64SOX2_20726797_ChIP-Seq_SW620_Human1.12031070
65PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.11412518
66GATA2_22383799_ChIP-Seq_G1ME_Mouse1.11323988
67KDM2B_26808549_Chip-Seq_DND41_Human1.10253640
68BCL6_27268052_Chip-Seq_Bcells_Human1.10111945
69PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.09623457
70CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.09144324
71MYC_22102868_ChIP-Seq_BL_Human1.08909218
72UTX_26944678_Chip-Seq_JUKART_Human1.08591953
73SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.08509115
74CDX2_19796622_ChIP-Seq_MESCs_Mouse1.08195670
75GATA3_27048872_Chip-Seq_THYMUS_Human1.05045821
76GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.04780803
77GATA3_26560356_Chip-Seq_TH2_Human1.04606978
78GATA1_22383799_ChIP-Seq_G1ME_Mouse1.03711697
79SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.02866518
80LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.01508141
81RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.00402310
82FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.98833070
83TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.98395036
84EGR1_19032775_ChIP-ChIP_M12_Human0.98240208
85PU.1_20513432_ChIP-Seq_Bcells_Mouse0.98024163
86GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.96488255
87* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.96175290
88KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.95159945
89KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.94786406
90STAT1_20625510_ChIP-Seq_HELA_Human0.94089831
91TCF7_22412390_ChIP-Seq_EML_Mouse0.93984069
92CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.93924313
93BCOR_27268052_Chip-Seq_Bcells_Human0.92568069
94RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92499447
95GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92315423
96IKZF1_21737484_ChIP-ChIP_HCT116_Human0.90834227
97ELK3_25401928_ChIP-Seq_HUVEC_Human0.90199560
98SPI1_20517297_ChIP-Seq_HL60_Human0.88064433
99GATA2_19941826_ChIP-Seq_K562_Human0.87247008
100FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.86463233
101CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.84365469
102SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.84156876
103SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.84156876
104KDM2B_26808549_Chip-Seq_SUP-B15_Human0.83691235
105SMRT_27268052_Chip-Seq_Bcells_Human0.83606072
106P63_26484246_Chip-Seq_KERATINOCYTES_Human0.82606859
107* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82555821
108* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.80877606
109RARG_19884340_ChIP-ChIP_MEFs_Mouse0.78369506
110GATA1_22025678_ChIP-Seq_K562_Human0.76509243
111RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.75288006
112FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.74668369
113* CJUN_26792858_Chip-Seq_BT549_Human0.73969046
114FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.73967421
115P300_27268052_Chip-Seq_Bcells_Human0.73228992
116GATA1_19941827_ChIP-Seq_MEL_Mouse0.72833453
117SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.72669317
118* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.72494885
119CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.72354547
120PPAR_26484153_Chip-Seq_NCI-H1993_Human0.72268808
121GATA1_19941826_ChIP-Seq_K562_Human0.70909147
122FOXO3_23340844_ChIP-Seq_DLD1_Human0.70444227
123STAT6_21828071_ChIP-Seq_BEAS2B_Human0.70139157
124NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.69979553
125NRF2_20460467_ChIP-Seq_MEFs_Mouse0.69979553
126ELF1_20517297_ChIP-Seq_JURKAT_Human0.68368416
127CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.67778747
128KDM2B_26808549_Chip-Seq_JURKAT_Human0.67439778

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003436_decreased_susceptibility_to4.34476329
2MP0001835_abnormal_antigen_presentation4.02719670
3MP0009785_altered_susceptibility_to3.86478750
4MP0003724_increased_susceptibility_to3.74206695
5MP0002148_abnormal_hypersensitivity_rea3.53403080
6MP0003303_peritoneal_inflammation3.52085584
7MP0002419_abnormal_innate_immunity3.32203877
8MP0005000_abnormal_immune_tolerance3.15306745
9MP0005025_abnormal_response_to3.05739084
10MP0006082_CNS_inflammation2.88897320
11MP0005387_immune_system_phenotype2.81659522
12MP0001790_abnormal_immune_system2.81659522
13* MP0002452_abnormal_antigen_presenting2.71299916
14* MP0001800_abnormal_humoral_immune2.53431464
15* MP0002723_abnormal_immune_serum2.45457793
16MP0000685_abnormal_immune_system2.45234076
17MP0001533_abnormal_skeleton_physiology2.37831288
18* MP0001819_abnormal_immune_cell2.29425499
19MP0009278_abnormal_bone_marrow2.27608554
20* MP0002420_abnormal_adaptive_immunity2.27100891
21MP0005464_abnormal_platelet_physiology2.15523076
22MP0004947_skin_inflammation2.14334381
23MP0005671_abnormal_response_to2.04428702
24MP0005058_abnormal_lysosome_morphology2.03052774
25MP0002405_respiratory_system_inflammati2.01066603
26MP0009764_decreased_sensitivity_to1.95933777
27MP0001845_abnormal_inflammatory_respons1.93843773
28MP0010155_abnormal_intestine_physiology1.91008059
29MP0009840_abnormal_foam_cell1.89011857
30MP0004510_myositis1.86510537
31MP0000343_altered_response_to1.82883290
32MP0003075_altered_response_to1.80743624
33MP0003191_abnormal_cellular_cholesterol1.77287770
34MP0005167_abnormal_blood-brain_barrier1.74702486
35MP0003448_altered_tumor_morphology1.74034286
36MP0002132_abnormal_respiratory_system1.73240470
37MP0003183_abnormal_peptide_metabolism1.67807708
38MP0009333_abnormal_splenocyte_physiolog1.64286200
39MP0001853_heart_inflammation1.63619432
40* MP0000716_abnormal_immune_system1.61158788
41MP0008469_abnormal_protein_level1.60248743
42MP0003300_gastrointestinal_ulcer1.56844323
43MP0005166_decreased_susceptibility_to1.54307014
44* MP0002398_abnormal_bone_marrow1.45655480
45MP0002006_tumorigenesis1.39057714
46MP0002998_abnormal_bone_remodeling1.38466806
47MP0005310_abnormal_salivary_gland1.37115099
48MP0000858_altered_metastatic_potential1.35972925
49MP0004782_abnormal_surfactant_physiolog1.34854006
50MP0001545_abnormal_hematopoietic_system1.34188164
51MP0005397_hematopoietic_system_phenotyp1.34188164
52MP0002138_abnormal_hepatobiliary_system1.32371485
53* MP0002429_abnormal_blood_cell1.28609813
54MP0000689_abnormal_spleen_morphology1.28581875
55MP0001851_eye_inflammation1.27140781
56MP0003828_pulmonary_edema1.26443604
57MP0005164_abnormal_response_to1.21424314
58MP0005390_skeleton_phenotype1.17986117
59MP0003806_abnormal_nucleotide_metabolis1.17699247
60MP0002722_abnormal_immune_system1.14134695
61MP0002933_joint_inflammation1.13462970
62MP0002277_abnormal_respiratory_mucosa1.10203772
63MP0003172_abnormal_lysosome_physiology1.09604096
64MP0002166_altered_tumor_susceptibility1.09525401
65MP0002396_abnormal_hematopoietic_system1.05901819
66MP0003453_abnormal_keratinocyte_physiol1.05493134
67MP0005174_abnormal_tail_pigmentation1.04518258
68MP0008004_abnormal_stomach_pH1.00560133
69MP0000703_abnormal_thymus_morphology0.99803457
70MP0006054_spinal_hemorrhage0.98144833
71MP0004883_abnormal_blood_vessel0.96703763
72MP0000249_abnormal_blood_vessel0.95820457
73MP0001986_abnormal_taste_sensitivity0.95225968
74MP0000490_abnormal_crypts_of0.93824110
75MP0000604_amyloidosis0.91611584
76MP0000465_gastrointestinal_hemorrhage0.91469415
77MP0001873_stomach_inflammation0.91289546
78MP0003690_abnormal_glial_cell0.90329693
79MP0005076_abnormal_cell_differentiation0.88561354
80MP0004808_abnormal_hematopoietic_stem0.88486927
81MP0001663_abnormal_digestive_system0.88396299
82MP0010352_gastrointestinal_tract_polyps0.88293925
83MP0003866_abnormal_defecation0.87772589
84MP0003566_abnormal_cell_adhesion0.86930206
85MP0009763_increased_sensitivity_to0.84196718
86MP0002136_abnormal_kidney_physiology0.82990162
87MP0000569_abnormal_digit_pigmentation0.81570783
88MP0009765_abnormal_xenobiotic_induced0.81423014
89MP0005451_abnormal_body_composition0.78360008
90MP0008260_abnormal_autophagy0.78302619
91MP0002254_reproductive_system_inflammat0.75052663
92MP0005360_urolithiasis0.74873294
93MP0004381_abnormal_hair_follicle0.73650079
94MP0001879_abnormal_lymphatic_vessel0.73385528
95MP0001542_abnormal_bone_strength0.73049945
96MP0005075_abnormal_melanosome_morpholog0.71521539
97MP0003186_abnormal_redox_activity0.70384110
98MP0003091_abnormal_cell_migration0.69538575
99MP0005319_abnormal_enzyme/_coenzyme0.67799734
100MP0010307_abnormal_tumor_latency0.65916252
101MP0005023_abnormal_wound_healing0.65797937
102MP0001958_emphysema0.65645455
103MP0005084_abnormal_gallbladder_morpholo0.63679950
104MP0002332_abnormal_exercise_endurance0.61501043
105MP0003795_abnormal_bone_structure0.60450105
106MP0003252_abnormal_bile_duct0.59723283
107MP0000767_abnormal_smooth_muscle0.59253859
108MP0003279_aneurysm0.58576651
109MP0003045_fibrosis0.57936732
110MP0005376_homeostasis/metabolism_phenot0.57024424
111MP0000015_abnormal_ear_pigmentation0.56898057
112MP0002928_abnormal_bile_duct0.56839550
113MP0008874_decreased_physiological_sensi0.54688707
114MP0001666_abnormal_nutrient_absorption0.53902822
115MP0004484_altered_response_of0.53747584
116MP0003656_abnormal_erythrocyte_physiolo0.53643734
117MP0001216_abnormal_epidermal_layer0.53630415
118MP0003763_abnormal_thymus_physiology0.53367399
119MP0001191_abnormal_skin_condition0.52522688

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)7.68020673
2Eczematoid dermatitis (HP:0000976)7.38728717
3Recurrent bacterial skin infections (HP:0005406)7.05761485
4Recurrent gram-negative bacterial infections (HP:0005420)6.42135663
5Autoimmune thrombocytopenia (HP:0001973)5.84714862
6Abnormality of macrophages (HP:0004311)5.44071911
7Mediastinal lymphadenopathy (HP:0100721)4.67890948
8Cellulitis (HP:0100658)4.55170076
9Gingivitis (HP:0000230)4.53522972
10Systemic lupus erythematosus (HP:0002725)4.33681560
11Recurrent fungal infections (HP:0002841)4.32456014
12Recurrent skin infections (HP:0001581)4.25873893
13Chronic obstructive pulmonary disease (HP:0006510)4.09421879
14Obstructive lung disease (HP:0006536)4.09421879
15Gastrointestinal infarctions (HP:0005244)4.08635750
16Vacuolated lymphocytes (HP:0001922)3.83892443
17Myositis (HP:0100614)3.80246826
18Interstitial pulmonary disease (HP:0006530)3.78292993
19Orchitis (HP:0100796)3.73402667
20Pustule (HP:0200039)3.66381582
21Stomatitis (HP:0010280)3.59487375
22Keratoconjunctivitis (HP:0001096)3.59090224
23Elevated erythrocyte sedimentation rate (HP:0003565)3.58694559
24Recurrent viral infections (HP:0004429)3.58018052
25Episodic fever (HP:0001954)3.43343377
26Peritonitis (HP:0002586)3.39328060
27Hypochromic microcytic anemia (HP:0004840)3.38226103
28Retrobulbar optic neuritis (HP:0100654)3.33990166
29Optic neuritis (HP:0100653)3.33990166
30Amyloidosis (HP:0011034)3.32034153
31Thick nail (HP:0001805)3.28788160
32Meningitis (HP:0001287)3.26085549
33Osteomyelitis (HP:0002754)3.21314786
34Vasculitis (HP:0002633)3.18791192
35Recurrent pneumonia (HP:0006532)3.17269424
36Chest pain (HP:0100749)3.13817493
37Spontaneous hematomas (HP:0007420)3.12949203
38Prostate neoplasm (HP:0100787)3.10224753
39Increased cerebral lipofuscin (HP:0011813)3.08095283
40Periodontitis (HP:0000704)3.03975561
41Thyroiditis (HP:0100646)2.98373529
42Axonal loss (HP:0003447)2.96959633
43Hypochromic anemia (HP:0001931)2.94370060
44Urticaria (HP:0001025)2.93080680
45Increased neuronal autofluorescent lipopigment (HP:0002074)2.85963868
46Sepsis (HP:0100806)2.83428633
47Autoimmune hemolytic anemia (HP:0001890)2.83234396
48Recurrent cutaneous fungal infections (HP:0011370)2.82055570
49Chronic mucocutaneous candidiasis (HP:0002728)2.82055570
50Recurrent lower respiratory tract infections (HP:0002783)2.74806982
51Increased IgE level (HP:0003212)2.68168102
52Pulmonary embolism (HP:0002204)2.67098539
53Leukocytosis (HP:0001974)2.65710831
54Agammaglobulinemia (HP:0004432)2.62231510
55Hematochezia (HP:0002573)2.60020062
56Abnormality of the pleura (HP:0002103)2.59927682
57Eosinophilia (HP:0001880)2.59599046
58Glomerulonephritis (HP:0000099)2.59538181
59Microcytic anemia (HP:0001935)2.54378049
60T lymphocytopenia (HP:0005403)2.54097343
61Basal ganglia calcification (HP:0002135)2.53927227
62Chronic otitis media (HP:0000389)2.52575924
63Petechiae (HP:0000967)2.52396604
64Panhypogammaglobulinemia (HP:0003139)2.49133388
65Abnormality of T cells (HP:0002843)2.48648910
66Gangrene (HP:0100758)2.44044919
67Colitis (HP:0002583)2.43642387
68Disinhibition (HP:0000734)2.42648101
69Joint hemorrhage (HP:0005261)2.41554628
70Inflammation of the large intestine (HP:0002037)2.39277578
71Abnormality of T cell physiology (HP:0011840)2.34670074
72Increased serum ferritin (HP:0003281)2.33887339
73Abnormality of the peritoneum (HP:0002585)2.31579792
74Increased IgM level (HP:0003496)2.29142501
75Abnormality of iron homeostasis (HP:0011031)2.26367723
76Gastrointestinal inflammation (HP:0004386)2.24792986
77Abnormality of glycolipid metabolism (HP:0010969)2.23462108
78Abnormality of liposaccharide metabolism (HP:0010968)2.23462108
79Abnormality of glycosphingolipid metabolism (HP:0004343)2.23462108
80Loss of speech (HP:0002371)2.23105233
81Dysostosis multiplex (HP:0000943)2.22126715
82Vertigo (HP:0002321)2.21904140
83Hypergammaglobulinemia (HP:0010702)2.21504878
84Nephritis (HP:0000123)2.20334981
85Cheilitis (HP:0100825)2.20113976
86Hemoptysis (HP:0002105)2.19156415
87Pulmonary infiltrates (HP:0002113)2.18948985
88Osteolytic defects of the hand bones (HP:0009699)2.18353957
89Osteolytic defects of the phalanges of the hand (HP:0009771)2.18353957
90Abnormality of the pericardium (HP:0001697)2.17330175
91Polyneuropathy (HP:0001271)2.16947709
92Skin ulcer (HP:0200042)2.16731734
93Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.14614779
94Glomerulopathy (HP:0100820)2.13559516
95Combined immunodeficiency (HP:0005387)2.11384571
96Purpura (HP:0000979)2.10673726
97Granulocytopenia (HP:0001913)2.10325530
98Tetraparesis (HP:0002273)2.09839625
99Abnormality of eosinophils (HP:0001879)2.08863180
100Abnormality of the heme biosynthetic pathway (HP:0010472)2.06778085
101Abnormal delayed hypersensitivity skin test (HP:0002963)2.05164303
102Acne (HP:0001061)2.04304819
103Abnormality of the endocardium (HP:0004306)2.03755265
104Keratoconjunctivitis sicca (HP:0001097)2.03481265
105Severe combined immunodeficiency (HP:0004430)2.02735687
106Abnormality of the nasal mucosa (HP:0000433)2.02118093
107Arterial thrombosis (HP:0004420)2.00843482
108Abnormality of transition element cation homeostasis (HP:0011030)2.00375944
109Keratitis (HP:0000491)1.99685749
110Stomach cancer (HP:0012126)1.99586509
111Myocardial infarction (HP:0001658)1.98261769
112Lymphopenia (HP:0001888)1.97680074
113Abnormality of cells of the lymphoid lineage (HP:0012140)1.97526278
114Hepatosplenomegaly (HP:0001433)1.97427954
115Gingival bleeding (HP:0000225)1.96026327
116Premature loss of primary teeth (HP:0006323)1.94441676
117Encephalitis (HP:0002383)1.94005832
118B lymphocytopenia (HP:0010976)1.93338219
119Abnormality of B cell number (HP:0010975)1.93338219
120IgM deficiency (HP:0002850)1.93248450
121Prolonged bleeding time (HP:0003010)1.91460220
122Abnormality of polysaccharide metabolism (HP:0011012)1.90012588
123Abnormality of glycosaminoglycan metabolism (HP:0004371)1.90012588
124Abnormality of mucopolysaccharide metabolism (HP:0011020)1.90012588
125Progressive visual loss (HP:0000529)1.88927119
126Papilloma (HP:0012740)1.88522852
127Verrucae (HP:0200043)1.88522852
128Poor head control (HP:0002421)1.86811734
129Abnormal platelet volume (HP:0011876)1.85576188
130Skin rash (HP:0000988)1.85055577
131Absent rod-and cone-mediated responses on ERG (HP:0007688)1.84632996
132Abnormality of T cell number (HP:0011839)1.84174783
133Anorexia (HP:0002039)1.83590844
134Epistaxis (HP:0000421)1.83324297
135Bone pain (HP:0002653)1.83157088

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BLK4.01188386
2MAP3K143.90784492
3RIPK43.84475716
4IRAK43.55933031
5ERN12.89169958
6TBK12.69354187
7IRAK32.68396050
8MAP4K12.63130301
9TYK22.62087805
10PBK2.58716634
11MST42.55586204
12TNK22.29223802
13CSK2.10839790
14IKBKE2.05539169
15STK101.98718993
16MST1R1.93747136
17EPHB11.92904453
18MAP3K101.92041541
19CLK11.89367380
20TAOK11.82282561
21IKBKB1.81639129
22FGR1.75923075
23PIM21.69299164
24BMX1.60579228
25HCK1.53553839
26FES1.51403596
27TXK1.49124030
28JAK11.48845038
29BTK1.45028514
30JAK31.41503502
31GRK61.40848541
32PRPF4B1.39884818
33TEC1.33051131
34SYK1.32975404
35TRPM71.30706016
36KIT1.29681612
37PIM11.27484277
38TGFBR21.27390530
39NEK91.23792827
40MATK1.22085738
41LYN1.21338718
42STK41.20004864
43CDK191.19881448
44RIPK11.18099987
45SIK21.14911110
46TAOK31.11640117
47ZAP701.09100099
48BMPR21.07015793
49FRK1.04538351
50CSF1R1.02765558
51IRAK21.01059562
52CHUK0.99973395
53PIK3CG0.98605894
54MARK30.97961663
55PRKD20.97936272
56MAP3K60.97657848
57MAP3K130.95842078
58TAOK20.94233661
59LCK0.91986837
60EPHA20.91275487
61PTK2B0.90259739
62LRRK20.88359382
63PTK60.84358050
64GRK70.83549410
65JAK20.79035532
66ABL20.75573477
67DAPK20.73827091
68ADRBK20.73439533
69YES10.72244442
70TESK20.71605230
71PRKCD0.70848913
72ABL10.69431830
73KSR20.68659189
74MAP2K40.67758783
75STK30.67718720
76FGFR30.67123555
77ERBB30.65378292
78PDPK10.65219422
79PRKG20.64411140
80EGFR0.62133624
81EIF2AK20.61261427
82MAPK70.60475912
83MAP2K60.60283612
84CAMKK20.59886256
85MARK20.59449236
86RPS6KA40.57936419
87EPHA30.54674859
88ACVR1B0.53782173
89ITK0.51915942
90PRKCQ0.49570039
91TIE10.48005277
92MAP3K70.47890251
93MAPKAPK20.46888236
94BCKDK0.45703937
95DYRK1B0.45668143
96MAP3K30.44596581
97FGFR40.43971604
98NUAK10.43835825
99ADRBK10.43119212
100KDR0.42790602
101NLK0.42665254
102FYN0.41764028
103IRAK10.39875567
104MAP3K120.39134381
105NME20.39030995
106CDK60.38421413
107STK110.38085005
108MAP3K110.37934249
109SIK30.37407320
110MAPK40.37272462
111MAP2K30.36622597
112CDC42BPA0.36103688
113MAP3K50.35286172
114STK380.34990300
115PAK40.34822356
116RPS6KA60.32988141
117MAP3K20.32397864
118HIPK20.31026624
119PINK10.30528702
120MAP3K10.30240663
121MAP2K20.29180729
122DYRK30.29022642
123PDK10.26929315
124RPS6KL10.26244535
125RPS6KC10.26244535
126ZAK0.25732310
127CAMK1D0.25713838
128PRKD10.24824173
129STK240.24147165
130TTN0.24042541
131MAPK120.23871261
132PRKCH0.23177233
133GRK10.22846830

Predicted pathways (KEGG)

RankGene SetZ-score
1Leishmaniasis_Homo sapiens_hsa051403.36978616
2Staphylococcus aureus infection_Homo sapiens_hsa051503.29846398
3Toll-like receptor signaling pathway_Homo sapiens_hsa046202.52454145
4Pertussis_Homo sapiens_hsa051332.35402445
5NF-kappa B signaling pathway_Homo sapiens_hsa040642.34049011
6Osteoclast differentiation_Homo sapiens_hsa043802.31654859
7Legionellosis_Homo sapiens_hsa051342.29913708
8Tuberculosis_Homo sapiens_hsa051522.23765469
9Graft-versus-host disease_Homo sapiens_hsa053322.18652928
10NOD-like receptor signaling pathway_Homo sapiens_hsa046212.14808768
11Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.13335759
12Malaria_Homo sapiens_hsa051442.11049000
13Rheumatoid arthritis_Homo sapiens_hsa053232.03140268
14RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.02149948
15Hematopoietic cell lineage_Homo sapiens_hsa046401.91344747
16Measles_Homo sapiens_hsa051621.85498794
17Salmonella infection_Homo sapiens_hsa051321.84777667
18TNF signaling pathway_Homo sapiens_hsa046681.79433443
19B cell receptor signaling pathway_Homo sapiens_hsa046621.78562936
20Asthma_Homo sapiens_hsa053101.77404926
21Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.75624675
22Intestinal immune network for IgA production_Homo sapiens_hsa046721.69577262
23Phagosome_Homo sapiens_hsa041451.68706645
24Lysosome_Homo sapiens_hsa041421.68047972
25Influenza A_Homo sapiens_hsa051641.66838432
26Other glycan degradation_Homo sapiens_hsa005111.66388254
27Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.53734835
28Toxoplasmosis_Homo sapiens_hsa051451.51684940
29Chemokine signaling pathway_Homo sapiens_hsa040621.49605113
30Primary immunodeficiency_Homo sapiens_hsa053401.47374373
31Leukocyte transendothelial migration_Homo sapiens_hsa046701.47321628
32Shigellosis_Homo sapiens_hsa051311.46556255
33Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.46158843
34Allograft rejection_Homo sapiens_hsa053301.45787903
35Mineral absorption_Homo sapiens_hsa049781.44830779
36Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.44244163
37Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.43939674
38African trypanosomiasis_Homo sapiens_hsa051431.41320655
39Renin-angiotensin system_Homo sapiens_hsa046141.34600309
40Jak-STAT signaling pathway_Homo sapiens_hsa046301.32492758
41Apoptosis_Homo sapiens_hsa042101.31249489
42Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.30899147
43Herpes simplex infection_Homo sapiens_hsa051681.28059701
44Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.22292771
45Caffeine metabolism_Homo sapiens_hsa002321.09738789
46Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.06832425
47Hepatitis C_Homo sapiens_hsa051601.06388840
48Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.05684441
49AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.04271516
50Hepatitis B_Homo sapiens_hsa051611.01547973
51Type I diabetes mellitus_Homo sapiens_hsa049401.01026075
52Antigen processing and presentation_Homo sapiens_hsa046120.98955537
53Amoebiasis_Homo sapiens_hsa051460.98502381
54Glycosaminoglycan degradation_Homo sapiens_hsa005310.96193376
55Vitamin digestion and absorption_Homo sapiens_hsa049770.91228821
56Viral myocarditis_Homo sapiens_hsa054160.88566587
57Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.85541104
58Sphingolipid metabolism_Homo sapiens_hsa006000.81997784
59Platelet activation_Homo sapiens_hsa046110.81275418
60Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.79952246
61Complement and coagulation cascades_Homo sapiens_hsa046100.79806597
62Regulation of autophagy_Homo sapiens_hsa041400.79797719
63Acute myeloid leukemia_Homo sapiens_hsa052210.76524090
64Carbohydrate digestion and absorption_Homo sapiens_hsa049730.70262745
65Fat digestion and absorption_Homo sapiens_hsa049750.66222827
66Chronic myeloid leukemia_Homo sapiens_hsa052200.63672130
67* Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.61837613
68Non-small cell lung cancer_Homo sapiens_hsa052230.61345554
69Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.60953351
70Transcriptional misregulation in cancer_Homo sapiens_hsa052020.58439461
71Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.57871397
72Dorso-ventral axis formation_Homo sapiens_hsa043200.56532358
73Pancreatic cancer_Homo sapiens_hsa052120.56188454
74T cell receptor signaling pathway_Homo sapiens_hsa046600.55921425
75Autoimmune thyroid disease_Homo sapiens_hsa053200.53198735
76Sphingolipid signaling pathway_Homo sapiens_hsa040710.52880479
77HIF-1 signaling pathway_Homo sapiens_hsa040660.49247326
78SNARE interactions in vesicular transport_Homo sapiens_hsa041300.48958482
79Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.48558759
80Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.48539951
81Phospholipase D signaling pathway_Homo sapiens_hsa040720.48129522
82Regulation of actin cytoskeleton_Homo sapiens_hsa048100.47424294
83Histidine metabolism_Homo sapiens_hsa003400.47397330
84Collecting duct acid secretion_Homo sapiens_hsa049660.46573331
85Small cell lung cancer_Homo sapiens_hsa052220.45722722
86Viral carcinogenesis_Homo sapiens_hsa052030.43058842
87Glycerophospholipid metabolism_Homo sapiens_hsa005640.40572977
88Proteoglycans in cancer_Homo sapiens_hsa052050.40235792
89Neurotrophin signaling pathway_Homo sapiens_hsa047220.39425615
90Epstein-Barr virus infection_Homo sapiens_hsa051690.36232089
91Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.36162359
92GnRH signaling pathway_Homo sapiens_hsa049120.36058799
93Arachidonic acid metabolism_Homo sapiens_hsa005900.35728049
94alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.35715493
95MAPK signaling pathway_Homo sapiens_hsa040100.35585892
96Prion diseases_Homo sapiens_hsa050200.35388389
97Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.35361780
98Renal cell carcinoma_Homo sapiens_hsa052110.34943075
99Insulin resistance_Homo sapiens_hsa049310.33879448
100Galactose metabolism_Homo sapiens_hsa000520.33318226
101Adipocytokine signaling pathway_Homo sapiens_hsa049200.32315825
102VEGF signaling pathway_Homo sapiens_hsa043700.31983621
103Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.31918891
104Endocytosis_Homo sapiens_hsa041440.31903626
105Choline metabolism in cancer_Homo sapiens_hsa052310.31733907
106Starch and sucrose metabolism_Homo sapiens_hsa005000.31102596
107FoxO signaling pathway_Homo sapiens_hsa040680.30724991
108Prolactin signaling pathway_Homo sapiens_hsa049170.30664110
109MicroRNAs in cancer_Homo sapiens_hsa052060.28618890
110HTLV-I infection_Homo sapiens_hsa051660.27696352
111Adherens junction_Homo sapiens_hsa045200.25716880
112Rap1 signaling pathway_Homo sapiens_hsa040150.23615926
113Type II diabetes mellitus_Homo sapiens_hsa049300.23179134
114Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.23117797
115Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.22869793
116p53 signaling pathway_Homo sapiens_hsa041150.22419677
117Ether lipid metabolism_Homo sapiens_hsa005650.21834822
118Prostate cancer_Homo sapiens_hsa052150.21698567
119Notch signaling pathway_Homo sapiens_hsa043300.21621368
120Inositol phosphate metabolism_Homo sapiens_hsa005620.20668080

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