SP140

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 SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.72463888
2negative regulation of cell killing (GO:0031342)5.72463888
3antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.39353487
4antigen processing and presentation of endogenous antigen (GO:0019883)5.26029703
5positive regulation of interferon-alpha production (GO:0032727)4.89327242
6regulation of gamma-delta T cell activation (GO:0046643)4.81688081
7type I interferon signaling pathway (GO:0060337)4.72757800
8cellular response to type I interferon (GO:0071357)4.72757800
9response to type I interferon (GO:0034340)4.69341950
10regulation of interferon-alpha production (GO:0032647)4.62750324
11antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.58643436
12antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.58643436
13regulation of gamma-delta T cell differentiation (GO:0045586)4.56983055
14response to interleukin-15 (GO:0070672)4.56817187
15regulation of T-helper 1 cell differentiation (GO:0045625)4.52965163
16positive thymic T cell selection (GO:0045059)4.52835436
17cellular response to interleukin-15 (GO:0071350)4.43672422
18response to peptidoglycan (GO:0032494)4.32929961
19regulation of RIG-I signaling pathway (GO:0039535)4.31830983
20neutrophil activation involved in immune response (GO:0002283)4.24176793
21positive regulation of gamma-delta T cell activation (GO:0046645)4.21533271
22positive T cell selection (GO:0043368)4.12661748
23regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)4.08792124
24regulation of activation of Janus kinase activity (GO:0010533)4.07681965
25thymic T cell selection (GO:0045061)4.01792468
26immunoglobulin mediated immune response (GO:0016064)3.98722481
27positive regulation of interleukin-12 production (GO:0032735)3.95347711
28cellular response to exogenous dsRNA (GO:0071360)3.94756864
29positive regulation of natural killer cell differentiation (GO:0032825)3.94101343
30cellular response to zinc ion (GO:0071294)3.92523673
31positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.89120182
32T cell selection (GO:0045058)3.88920833
33negative regulation of viral genome replication (GO:0045071)3.87012367
34detection of other organism (GO:0098543)3.86246369
35regulation of dendritic cell antigen processing and presentation (GO:0002604)3.81776165
36detection of bacterium (GO:0016045)3.81185734
37positive regulation by organism of defense response of other organism involved in symbiotic interact3.78199109
38modulation by symbiont of host immune response (GO:0052553)3.78199109
39positive regulation by symbiont of host defense response (GO:0052509)3.78199109
40modulation by symbiont of host defense response (GO:0052031)3.78199109
41modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.78199109
42modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.78199109
43interferon-gamma-mediated signaling pathway (GO:0060333)3.77816085
44negative regulation of T cell mediated immunity (GO:0002710)3.77602785
45positive regulation of antigen processing and presentation (GO:0002579)3.76646958
46regulation of interleukin-12 biosynthetic process (GO:0045075)3.74096356
47neutrophil activation (GO:0042119)3.73528419
48positive regulation of type 2 immune response (GO:0002830)3.72124038
49granulocyte activation (GO:0036230)3.68669401
50response to muramyl dipeptide (GO:0032495)3.68279758
51regulation of alpha-beta T cell proliferation (GO:0046640)3.66249514
52NIK/NF-kappaB signaling (GO:0038061)3.66053383
53regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.65797159
54negative regulation of lymphocyte mediated immunity (GO:0002707)3.65391592
55defense response to protozoan (GO:0042832)3.62967031
56cellular response to interferon-beta (GO:0035458)3.62281289
57negative regulation of interleukin-12 production (GO:0032695)3.60426617
58positive regulation of interferon-beta production (GO:0032728)3.60389490
59positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.60174770
60regulation of B cell receptor signaling pathway (GO:0050855)3.59773265
61positive regulation of alpha-beta T cell proliferation (GO:0046641)3.56780022
62natural killer cell mediated cytotoxicity (GO:0042267)3.54552335
63natural killer cell mediated immunity (GO:0002228)3.54552335
64T-helper 1 type immune response (GO:0042088)3.53844644
65positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)3.53739849
66regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)3.53134669
67response to interferon-alpha (GO:0035455)3.51932773
68regulation of T cell tolerance induction (GO:0002664)3.51354616
69antigen receptor-mediated signaling pathway (GO:0050851)3.51183358
70cellular response to virus (GO:0098586)3.50482550
71myeloid dendritic cell activation (GO:0001773)3.47538607
72negative regulation of B cell proliferation (GO:0030889)3.45956802
73positive regulation of T-helper cell differentiation (GO:0045624)3.45742330
74cytidine metabolic process (GO:0046087)3.44450486
75cytidine catabolic process (GO:0006216)3.44450486
76cytidine deamination (GO:0009972)3.44450486
77myeloid dendritic cell differentiation (GO:0043011)3.44101993
78respiratory burst (GO:0045730)3.42333076
79regulation of interleukin-2 biosynthetic process (GO:0045076)3.39504797
80leukocyte aggregation (GO:0070486)3.38407581
81T cell migration (GO:0072678)3.37202331
82lipopolysaccharide-mediated signaling pathway (GO:0031663)3.37107680
83regulation of regulatory T cell differentiation (GO:0045589)3.36676173
84tolerance induction (GO:0002507)3.36247503
85positive regulation of humoral immune response (GO:0002922)3.34293122
86B cell proliferation (GO:0042100)3.33168618
87antigen processing and presentation via MHC class Ib (GO:0002475)3.30954329
88negative regulation of leukocyte mediated immunity (GO:0002704)3.30641798
89detection of external biotic stimulus (GO:0098581)3.29597109
90regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.28802641
91pyrimidine ribonucleoside catabolic process (GO:0046133)3.28297873
92regulation of antigen processing and presentation (GO:0002577)3.27688198
93response to interferon-beta (GO:0035456)3.27002755
94positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)3.26881004
95negative thymic T cell selection (GO:0045060)3.25092221
96regulation of natural killer cell mediated immunity (GO:0002715)3.24979417
97regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.24979417
98regulation of interleukin-12 production (GO:0032655)3.24966112
99B cell homeostasis (GO:0001782)3.22986688
100regulation of interferon-beta biosynthetic process (GO:0045357)3.22724421
101interferon-gamma production (GO:0032609)3.21946217
102B cell mediated immunity (GO:0019724)3.19872583
103positive regulation of granulocyte differentiation (GO:0030854)3.19743771
104B cell receptor signaling pathway (GO:0050853)3.19405309
105dendritic cell chemotaxis (GO:0002407)3.19372766
106positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.19181497
107regulation of tolerance induction (GO:0002643)3.19118430
108response to protozoan (GO:0001562)3.19062325
109T cell costimulation (GO:0031295)3.18933385
110regulation of T-helper cell differentiation (GO:0045622)3.18064868
111regulation of T cell mediated cytotoxicity (GO:0001914)3.16344343
112positive regulation of interleukin-17 production (GO:0032740)3.15375255
113regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)3.15320315
114positive regulation of interleukin-2 production (GO:0032743)3.15261028
115germinal center formation (GO:0002467)3.14448741
116lymphocyte costimulation (GO:0031294)3.14364493
117microglial cell activation (GO:0001774)3.14188035
118cellular extravasation (GO:0045123)3.14111015
119production of molecular mediator involved in inflammatory response (GO:0002532)3.13295646
120regulation of B cell differentiation (GO:0045577)3.11508158
121negative regulation of interleukin-17 production (GO:0032700)3.09773238
122CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)3.09638702
123T cell receptor signaling pathway (GO:0050852)3.09389743
124positive regulation of defense response to virus by host (GO:0002230)3.09106113
125negative T cell selection (GO:0043383)3.06975140
126regulation of B cell proliferation (GO:0030888)3.06553270
127myeloid cell activation involved in immune response (GO:0002275)3.04847055
128natural killer cell activation (GO:0030101)3.03184740
129positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.03069182
130positive regulation of B cell mediated immunity (GO:0002714)3.02631533
131positive regulation of immunoglobulin mediated immune response (GO:0002891)3.02631533
132detection of molecule of bacterial origin (GO:0032490)3.02227777
133positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)3.01678596
134positive regulation of cytokine biosynthetic process (GO:0042108)3.01527599
135regulation of T-helper 2 cell differentiation (GO:0045628)3.01402896
136positive regulation of B cell differentiation (GO:0045579)3.01158707
137regulation of isotype switching to IgG isotypes (GO:0048302)3.00656586
138regulation of defense response to virus by host (GO:0050691)3.00269493
139regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)2.99292010
140leukocyte mediated cytotoxicity (GO:0001909)2.98186180
141positive regulation of T cell mediated cytotoxicity (GO:0001916)2.97844553
142regulation of interferon-gamma biosynthetic process (GO:0045072)2.97671239
143regulation of interleukin-17 production (GO:0032660)2.97589012
144natural killer cell differentiation (GO:0001779)2.96499360
145response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.96308828
146response to host immune response (GO:0052572)2.96308828
147positive regulation of monocyte chemotaxis (GO:0090026)2.96076840
148cellular response to interferon-gamma (GO:0071346)2.95835424
149positive regulation of isotype switching (GO:0045830)2.93678272
150regulation of type I interferon-mediated signaling pathway (GO:0060338)2.93136211
151positive regulation of T cell cytokine production (GO:0002726)2.92825950
152regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.91616220
153positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.91421260
154regulation of T-helper 1 type immune response (GO:0002825)2.89907042
155macrophage activation involved in immune response (GO:0002281)2.88608366

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human7.81194064
2IRF8_21731497_ChIP-ChIP_J774_Mouse6.70641231
3IRF1_21803131_ChIP-Seq_MONOCYTES_Human5.65500786
4IRF8_22096565_ChIP-ChIP_GC-B_Mouse5.59600615
5FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.88085514
6BP1_19119308_ChIP-ChIP_Hs578T_Human4.24400488
7IRF8_27001747_Chip-Seq_BMDM_Mouse3.98520823
8STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.84802955
9SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.51190059
10MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.42906515
11SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.41415775
12* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.19084005
13STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.11620243
14STAT4_19710469_ChIP-ChIP_TH1__Mouse3.07394724
15EGR1_19374776_ChIP-ChIP_THP-1_Human2.92611960
16RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.81717619
17MYB_21317192_ChIP-Seq_ERMYB_Mouse2.66031805
18Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.37528535
19MYB_26560356_Chip-Seq_TH2_Human2.28791418
20SPI1_23547873_ChIP-Seq_NB4_Human2.21969457
21RUNX_20019798_ChIP-Seq_JUKART_Human2.13411066
22MAF_26560356_Chip-Seq_TH1_Human2.04295773
23SCL_19346495_ChIP-Seq_HPC-7_Human2.03344599
24FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.96853592
25MYB_26560356_Chip-Seq_TH1_Human1.91524130
26E2F7_22180533_ChIP-Seq_HELA_Human1.88639400
27NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.85594872
28SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.84311404
29* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.73211774
30STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.70456793
31RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.69463048
32SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.66747728
33SMAD_19615063_ChIP-ChIP_OVARY_Human1.64778757
34ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.63886751
35VDR_24763502_ChIP-Seq_THP-1_Human1.63605325
36PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.63483640
37NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.62675881
38CIITA_25753668_ChIP-Seq_RAJI_Human1.60947915
39RUNX1_22412390_ChIP-Seq_EML_Mouse1.59764336
40* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.52114825
41PU_27001747_Chip-Seq_BMDM_Mouse1.51959636
42SPI1_23127762_ChIP-Seq_K562_Human1.50942928
43* CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.50007572
44VDR_21846776_ChIP-Seq_THP-1_Human1.49214193
45CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.40864444
46GATA1_22025678_ChIP-Seq_K562_Human1.36912894
47ELF1_17652178_ChIP-ChIP_JURKAT_Human1.34832715
48* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.34723522
49GATA3_27048872_Chip-Seq_THYMUS_Human1.32384498
50E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.32267833
51E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.31653204
52UTX_26944678_Chip-Seq_JUKART_Human1.31185779
53GATA3_26560356_Chip-Seq_TH2_Human1.30286008
54STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.29847232
55LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.28513908
56GATA2_22383799_ChIP-Seq_G1ME_Mouse1.27744152
57MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.26339216
58PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.25526324
59VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.21152193
60* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.18331732
61MYC_22102868_ChIP-Seq_BL_Human1.17030212
62VDR_24787735_ChIP-Seq_THP-1_Human1.15726569
63* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.14102864
64SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.10899727
65MAF_26560356_Chip-Seq_TH2_Human1.08681617
66* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.08077802
67KDM2B_26808549_Chip-Seq_SUP-B15_Human1.06030307
68KDM2B_26808549_Chip-Seq_DND41_Human1.03515063
69* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.02379015
70LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.02370498
71GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.01553915
72VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.01319701
73NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.98511188
74PU.1_20513432_ChIP-Seq_Bcells_Mouse0.97559230
75KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.96576453
76* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.93403394
77FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.92794967
78NOTCH1_21737748_ChIP-Seq_TLL_Human0.92477445
79EGR1_23403033_ChIP-Seq_LIVER_Mouse0.90877907
80GATA1_22383799_ChIP-Seq_G1ME_Mouse0.90563934
81GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.84967762
82GATA3_26560356_Chip-Seq_TH1_Human0.84247350
83* ERG_20887958_ChIP-Seq_HPC-7_Mouse0.83934758
84* TCF7_22412390_ChIP-Seq_EML_Mouse0.82851723
85* GATA1_19941827_ChIP-Seq_MEL_Mouse0.82075401
86GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81932806
87TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.80825371
88GATA2_21666600_ChIP-Seq_HMVEC_Human0.79424736
89TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.77393331
90VDR_23849224_ChIP-Seq_CD4+_Human0.75303295
91RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.75264812
92GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.75117881
93GATA1_19941826_ChIP-Seq_K562_Human0.74645726
94FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.73632631
95KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.73571867
96SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.72528191
97ELK1_19687146_ChIP-ChIP_HELA_Human0.72472731
98HOXB4_20404135_ChIP-ChIP_EML_Mouse0.72172754
99BCL6_27268052_Chip-Seq_Bcells_Human0.71891029
100RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.70613272
101* BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.69121039
102SMRT_27268052_Chip-Seq_Bcells_Human0.68654742
103CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.65900982
104RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.65809368
105STAT6_21828071_ChIP-Seq_BEAS2B_Human0.65717965
106GATA2_19941826_ChIP-Seq_K562_Human0.65028262
107THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.63865909
108TFEB_21752829_ChIP-Seq_HELA_Human0.62554109
109* KAP1_22055183_ChIP-Seq_ESCs_Mouse0.60490233
110CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.60000362
111EGR1_19032775_ChIP-ChIP_M12_Human0.59742458
112P300_27268052_Chip-Seq_Bcells_Human0.57758754
113GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.57671522
114ELK3_25401928_ChIP-Seq_HUVEC_Human0.56992196
115IKZF1_21737484_ChIP-ChIP_HCT116_Human0.55903659
116ETS1_22383799_ChIP-Seq_G1ME_Mouse0.55664062
117SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.55399493
118SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.55399493
119FOXM1_23109430_ChIP-Seq_U2OS_Human0.55281397
120FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.54998348

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation5.51977903
2MP0009785_altered_susceptibility_to4.09426293
3MP0000685_abnormal_immune_system3.93009755
4MP0002148_abnormal_hypersensitivity_rea3.74154202
5MP0001790_abnormal_immune_system3.70628948
6MP0005387_immune_system_phenotype3.70628948
7MP0005671_abnormal_response_to3.55615632
8MP0001800_abnormal_humoral_immune3.44925004
9MP0005000_abnormal_immune_tolerance3.36074230
10MP0003436_decreased_susceptibility_to3.28441294
11MP0005025_abnormal_response_to3.18129886
12MP0002452_abnormal_antigen_presenting3.12619429
13MP0002723_abnormal_immune_serum3.00578836
14MP0006082_CNS_inflammation2.92534544
15MP0002419_abnormal_innate_immunity2.86715976
16MP0001819_abnormal_immune_cell2.70665014
17MP0002420_abnormal_adaptive_immunity2.67001321
18MP0004510_myositis2.62860229
19MP0003724_increased_susceptibility_to2.58341066
20MP0003303_peritoneal_inflammation2.38131370
21MP0002398_abnormal_bone_marrow2.20198750
22MP0000716_abnormal_immune_system2.15104077
23MP0001853_heart_inflammation2.00132015
24MP0002006_tumorigenesis1.99889960
25MP0010155_abnormal_intestine_physiology1.98068639
26MP0002166_altered_tumor_susceptibility1.96072575
27MP0002405_respiratory_system_inflammati1.93382659
28MP0001845_abnormal_inflammatory_respons1.92318684
29MP0005464_abnormal_platelet_physiology1.86344243
30MP0005310_abnormal_salivary_gland1.83798616
31MP0009764_decreased_sensitivity_to1.82962966
32MP0004947_skin_inflammation1.80533319
33MP0003763_abnormal_thymus_physiology1.75140195
34MP0002429_abnormal_blood_cell1.73638978
35MP0000689_abnormal_spleen_morphology1.73538342
36MP0002722_abnormal_immune_system1.63330029
37MP0008469_abnormal_protein_level1.61975793
38MP0001533_abnormal_skeleton_physiology1.59238317
39MP0004381_abnormal_hair_follicle1.53393041
40MP0009333_abnormal_splenocyte_physiolog1.43235964
41MP0002396_abnormal_hematopoietic_system1.40388147
42MP0008260_abnormal_autophagy1.37373889
43MP0005397_hematopoietic_system_phenotyp1.36674730
44MP0001545_abnormal_hematopoietic_system1.36674730
45MP0005451_abnormal_body_composition1.35776494
46MP0000343_altered_response_to1.33468224
47MP0005058_abnormal_lysosome_morphology1.33123720
48MP0003448_altered_tumor_morphology1.31701781
49MP0004808_abnormal_hematopoietic_stem1.26045478
50MP0001873_stomach_inflammation1.23063608
51MP0002138_abnormal_hepatobiliary_system1.21383330
52MP0000858_altered_metastatic_potential1.20324667
53MP0005075_abnormal_melanosome_morpholog1.18857458
54MP0000703_abnormal_thymus_morphology1.15151582
55MP0009278_abnormal_bone_marrow1.11459908
56MP0001348_abnormal_lacrimal_gland1.09101911
57MP0002009_preneoplasia1.07009875
58MP0004782_abnormal_surfactant_physiolog1.01318502
59MP0008057_abnormal_DNA_replication0.99474841
60MP0000490_abnormal_crypts_of0.99131348
61MP0002163_abnormal_gland_morphology0.96328085
62MP0002277_abnormal_respiratory_mucosa0.90251212
63MP0004883_abnormal_blood_vessel0.89352797
64MP0009763_increased_sensitivity_to0.89147023
65MP0002998_abnormal_bone_remodeling0.87924196
66MP0003075_altered_response_to0.87507685
67MP0000569_abnormal_digit_pigmentation0.86797196
68MP0005174_abnormal_tail_pigmentation0.86507463
69MP0003866_abnormal_defecation0.85471888
70MP0002933_joint_inflammation0.80727277
71MP0003172_abnormal_lysosome_physiology0.80222116
72MP0000015_abnormal_ear_pigmentation0.79977120
73MP0010307_abnormal_tumor_latency0.79802887
74MP0003191_abnormal_cellular_cholesterol0.78602048
75MP0003693_abnormal_embryo_hatching0.78573821
76MP0003045_fibrosis0.78294781
77MP0003300_gastrointestinal_ulcer0.78139938
78MP0003828_pulmonary_edema0.77219416
79MP0003656_abnormal_erythrocyte_physiolo0.75433048
80MP0005166_decreased_susceptibility_to0.73700882
81MP0005076_abnormal_cell_differentiation0.72928468
82MP0001986_abnormal_taste_sensitivity0.72783167
83MP0002019_abnormal_tumor_incidence0.71845218
84MP0000371_diluted_coat_color0.70722263
85MP0003183_abnormal_peptide_metabolism0.69288443
86MP0003091_abnormal_cell_migration0.69174948
87MP0002254_reproductive_system_inflammat0.65191889
88MP0001851_eye_inflammation0.64934031
89MP0001346_abnormal_lacrimal_gland0.64872975
90MP0005390_skeleton_phenotype0.64623189
91MP0000249_abnormal_blood_vessel0.64403353
92MP0003221_abnormal_cardiomyocyte_apopto0.62709968
93MP0003186_abnormal_redox_activity0.62420909
94MP0000465_gastrointestinal_hemorrhage0.61713808
95MP0005164_abnormal_response_to0.60981353
96MP0003453_abnormal_keratinocyte_physiol0.60552861
97MP0002136_abnormal_kidney_physiology0.59203095
98MP0003787_abnormal_imprinting0.59034378
99MP0009840_abnormal_foam_cell0.58131360
100MP0008874_decreased_physiological_sensi0.57526821
101MP0000767_abnormal_smooth_muscle0.56797197
102MP0003566_abnormal_cell_adhesion0.55601092
103MP0009765_abnormal_xenobiotic_induced0.55336851
104MP0000604_amyloidosis0.54190283
105MP0002102_abnormal_ear_morphology0.53076645
106MP0002132_abnormal_respiratory_system0.52593134
107MP0000627_abnormal_mammary_gland0.49958927
108MP0001663_abnormal_digestive_system0.48253914
109MP0001879_abnormal_lymphatic_vessel0.47685387
110MP0002693_abnormal_pancreas_physiology0.47084246
111MP0008961_abnormal_basal_metabolism0.46647680
112MP0002876_abnormal_thyroid_physiology0.46516285
113MP0000609_abnormal_liver_physiology0.45008597
114MP0003690_abnormal_glial_cell0.44278531
115MP0003795_abnormal_bone_structure0.42227113
116MP0002332_abnormal_exercise_endurance0.41886018
117MP0008004_abnormal_stomach_pH0.41641454

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)6.28251944
2Recurrent bacterial skin infections (HP:0005406)5.99370530
3Eczematoid dermatitis (HP:0000976)5.98589343
4Recurrent gram-negative bacterial infections (HP:0005420)4.77863128
5Recurrent fungal infections (HP:0002841)4.75400154
6Recurrent viral infections (HP:0004429)4.73792870
7Autoimmune thrombocytopenia (HP:0001973)4.57266115
8Agammaglobulinemia (HP:0004432)4.54614008
9Mediastinal lymphadenopathy (HP:0100721)4.53348814
10Elevated erythrocyte sedimentation rate (HP:0003565)4.47892300
11Vasculitis (HP:0002633)4.40552949
12Increased IgM level (HP:0003496)4.36750611
13Chronic otitis media (HP:0000389)4.33763895
14Recurrent skin infections (HP:0001581)4.29377810
15Myositis (HP:0100614)4.26954166
16Abnormal delayed hypersensitivity skin test (HP:0002963)4.18470648
17Recurrent cutaneous fungal infections (HP:0011370)4.14184415
18Chronic mucocutaneous candidiasis (HP:0002728)4.14184415
19Abnormality of macrophages (HP:0004311)3.97659147
20Recurrent bronchitis (HP:0002837)3.88986399
21Chronic obstructive pulmonary disease (HP:0006510)3.87348367
22Obstructive lung disease (HP:0006536)3.87348367
23Meningitis (HP:0001287)3.76226013
24Retrobulbar optic neuritis (HP:0100654)3.69735668
25Optic neuritis (HP:0100653)3.69735668
26Cellulitis (HP:0100658)3.68741315
27Colitis (HP:0002583)3.65961193
28Orchitis (HP:0100796)3.62747744
29Panhypogammaglobulinemia (HP:0003139)3.62683577
30Abnormality of T cell physiology (HP:0011840)3.51334292
31Basal ganglia calcification (HP:0002135)3.48416455
32Hypergammaglobulinemia (HP:0010702)3.34822449
33Gastrointestinal stroma tumor (HP:0100723)3.25627221
34Abnormality of T cells (HP:0002843)3.23324701
35Inflammation of the large intestine (HP:0002037)3.23207494
36IgG deficiency (HP:0004315)3.22626631
37Pustule (HP:0200039)3.20018025
38IgA deficiency (HP:0002720)3.18847721
39Gingivitis (HP:0000230)3.16509839
40Stomatitis (HP:0010280)3.16420220
41Recurrent lower respiratory tract infections (HP:0002783)3.15289874
42Recurrent pneumonia (HP:0006532)3.13048738
43Nasal polyposis (HP:0100582)3.09732212
44Pulmonary infiltrates (HP:0002113)3.07638207
45Gastrointestinal inflammation (HP:0004386)3.01188378
46Interstitial pulmonary disease (HP:0006530)3.01168740
47IgM deficiency (HP:0002850)2.98682771
48Recurrent sinusitis (HP:0011108)2.93957330
49Abnormality of cells of the lymphoid lineage (HP:0012140)2.93168717
50Abnormality of T cell number (HP:0011839)2.92136197
51Lymphopenia (HP:0001888)2.89462452
52Gastrointestinal infarctions (HP:0005244)2.88454915
53Periodontitis (HP:0000704)2.85993894
54Osteomyelitis (HP:0002754)2.82982479
55Chronic sinusitis (HP:0011109)2.81619162
56Autoimmune hemolytic anemia (HP:0001890)2.80705254
57Leukocytosis (HP:0001974)2.74896119
58Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.74214725
59Eosinophilia (HP:0001880)2.72107677
60Lymphoma (HP:0002665)2.72101676
61Abnormality of the nasal mucosa (HP:0000433)2.66255782
62Encephalitis (HP:0002383)2.63682019
63Thrombocytosis (HP:0001894)2.62985044
64Porencephaly (HP:0002132)2.53890617
65T lymphocytopenia (HP:0005403)2.53657146
66Emphysema (HP:0002097)2.51563966
67Thyroiditis (HP:0100646)2.50285186
68Systemic lupus erythematosus (HP:0002725)2.48614534
69Petechiae (HP:0000967)2.48084376
70Arterial thrombosis (HP:0004420)2.48007757
71Chronic diarrhea (HP:0002028)2.47509393
72Gangrene (HP:0100758)2.47352151
73Vacuolated lymphocytes (HP:0001922)2.44610685
74Pulmonary embolism (HP:0002204)2.44501841
75Urticaria (HP:0001025)2.42289848
76Epistaxis (HP:0000421)2.41553482
77Hemoptysis (HP:0002105)2.40639320
78Abnormality of the pleura (HP:0002103)2.39315578
79Gingival bleeding (HP:0000225)2.39158025
80Viral hepatitis (HP:0006562)2.36093200
81Abnormality of eosinophils (HP:0001879)2.35117247
82Abnormality of B cell number (HP:0010975)2.34575705
83B lymphocytopenia (HP:0010976)2.34575705
84Skin rash (HP:0000988)2.34507358
85Granulocytopenia (HP:0001913)2.33977477
86Prolonged bleeding time (HP:0003010)2.31142110
87Keratoconjunctivitis sicca (HP:0001097)2.29542386
88Increased neuronal autofluorescent lipopigment (HP:0002074)2.27141701
89Neutropenia (HP:0001875)2.25785283
90Arthralgia (HP:0002829)2.20514953
91Acute hepatic failure (HP:0006554)2.20110736
92Hypochromic anemia (HP:0001931)2.19016301
93Joint swelling (HP:0001386)2.18702577
94Abnormality of the prostate (HP:0008775)2.18633778
95Sepsis (HP:0100806)2.15480135
96Keratoconjunctivitis (HP:0001096)2.15479925
97Increased IgE level (HP:0003212)2.14016529
98Increased cerebral lipofuscin (HP:0011813)2.13373336
99Skin ulcer (HP:0200042)2.12072594
100Prostate neoplasm (HP:0100787)2.11778932
101Recurrent otitis media (HP:0000403)2.11176574
102Bronchitis (HP:0012387)2.05320060
103Chest pain (HP:0100749)2.03687994
104Abnormality of the fingertips (HP:0001211)2.03385079
105Abnormality of the peritoneum (HP:0002585)2.03314669
106Cleft eyelid (HP:0000625)2.02397080
107Amaurosis fugax (HP:0100576)2.01830388
108Combined immunodeficiency (HP:0005387)2.00487093
109Glomerulopathy (HP:0100820)2.00485988
110Restrictive lung disease (HP:0002091)1.99966413
111Verrucae (HP:0200043)1.99823612
112Papilloma (HP:0012740)1.99823612
113Spontaneous hematomas (HP:0007420)1.98525402
114Anorexia (HP:0002039)1.98489011
115Severe combined immunodeficiency (HP:0004430)1.97784300

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K144.52320128
2IRAK43.74922786
3MAP4K13.72793859
4TBK13.53822496
5BLK3.42169628
6IKBKE3.26722735
7TYK23.15403383
8IKBKB3.01492783
9JAK33.01412168
10IRAK32.98181892
11BMPR22.88736022
12RIPK42.78217115
13TXK2.48992735
14JAK12.33302378
15MST42.27770694
16MAP3K132.22845232
17KIT2.20635915
18PRPF4B1.98039914
19SYK1.95912170
20CHUK1.77117976
21BTK1.75476005
22ZAP701.71279215
23PBK1.69710478
24PIM21.61326407
25CSF1R1.54800708
26RPS6KA41.53195899
27PIM11.49092742
28TEC1.44315674
29ERN11.41550357
30TNK21.37007884
31CSK1.31714084
32STK41.27512293
33HCK1.24737836
34NEK91.24138367
35STK101.23891406
36EPHB11.18978549
37FGFR41.18473749
38LYN1.18037300
39EIF2AK21.12537837
40LCK1.10588385
41IRAK11.03635213
42PIK3CG1.03565028
43ITK1.03145041
44FGFR30.94752395
45TAOK30.94739183
46SMG10.92349572
47SIK30.92210313
48MAP3K100.89896125
49EPHA30.85464277
50GRK60.83068017
51PRKCQ0.81708389
52FES0.81624877
53JAK20.80800269
54MARK30.79566058
55LRRK20.76865008
56ADRBK20.76252856
57NLK0.72614198
58FLT30.72556471
59MAP3K50.68056805
60NME20.67269191
61MATK0.65813548
62IRAK20.63459383
63MAP3K10.60742426
64CAMKK20.59434184
65CDK120.57824890
66SIK20.57811081
67MAP3K30.56405607
68ABL10.55953617
69CDC42BPA0.55876722
70MELK0.55630512
71PASK0.54972851
72BMX0.54737871
73MAPK120.54459414
74TAOK10.54104438
75TRPM70.53380051
76PRKCD0.51231867
77MAP3K110.49072287
78MAPK70.48167510
79NUAK10.47456373
80FGR0.46184348
81CLK10.45847148
82TAOK20.44668545
83CAMKK10.44268036
84TESK20.43589229
85TGFBR20.41813401
86MARK20.41736315
87KSR20.39988340
88CDK190.39230743
89PDPK10.37585349
90EGFR0.37581162
91DMPK0.37361254
92PTK2B0.36873635
93MAPKAPK20.36173098
94RPS6KA50.36123611
95CDK40.35297363
96ABL20.33651221
97PRKCH0.33239066
98GRK70.30665221
99MAP2K30.30377525
100MAP3K70.29969740
101BRSK20.29284753
102SGK20.29159473
103EIF2AK30.28713559
104WNK10.28396733
105STK30.28330021
106ALK0.25063998
107GRK50.24451358
108YES10.23562120
109HIPK20.23278037
110PTK60.23109417
111RPS6KA60.22696246
112SGK30.22558626
113TLK10.22528038
114ATR0.22420971
115STK110.21957461
116MAPK30.21925522
117PDK10.21299055
118CDK60.20240834
119ACVR1B0.18573937
120ARAF0.18132380
121STK240.17613565
122GSK3A0.16867428
123GRK10.16730544
124MAPK110.16491044
125MAP2K60.13224615
126MAP3K80.13143520
127PLK40.11785234
128RPS6KA10.11339987
129KDR0.10331201
130TESK10.09921147
131FYN0.09843150
132EIF2AK10.09805663

Predicted pathways (KEGG)

RankGene SetZ-score
1Allograft rejection_Homo sapiens_hsa053303.53267794
2Graft-versus-host disease_Homo sapiens_hsa053323.39530004
3Intestinal immune network for IgA production_Homo sapiens_hsa046723.24572923
4Leishmaniasis_Homo sapiens_hsa051403.02516044
5Primary immunodeficiency_Homo sapiens_hsa053403.01692858
6NF-kappa B signaling pathway_Homo sapiens_hsa040642.90993547
7Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.86000558
8Toll-like receptor signaling pathway_Homo sapiens_hsa046202.85497746
9RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.72016296
10Measles_Homo sapiens_hsa051622.51965218
11Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.30941471
12NOD-like receptor signaling pathway_Homo sapiens_hsa046212.28551047
13B cell receptor signaling pathway_Homo sapiens_hsa046622.17935887
14Osteoclast differentiation_Homo sapiens_hsa043802.11890239
15Herpes simplex infection_Homo sapiens_hsa051682.11104579
16Type I diabetes mellitus_Homo sapiens_hsa049402.10698921
17Autoimmune thyroid disease_Homo sapiens_hsa053202.09017727
18Antigen processing and presentation_Homo sapiens_hsa046121.97547567
19Influenza A_Homo sapiens_hsa051641.97103299
20Legionellosis_Homo sapiens_hsa051341.94724330
21TNF signaling pathway_Homo sapiens_hsa046681.88100308
22Tuberculosis_Homo sapiens_hsa051521.81883253
23Pertussis_Homo sapiens_hsa051331.79519017
24Asthma_Homo sapiens_hsa053101.77998426
25Malaria_Homo sapiens_hsa051441.76065357
26Staphylococcus aureus infection_Homo sapiens_hsa051501.71512088
27Rheumatoid arthritis_Homo sapiens_hsa053231.65971185
28Jak-STAT signaling pathway_Homo sapiens_hsa046301.63716590
29Hematopoietic cell lineage_Homo sapiens_hsa046401.60698327
30Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.57121588
31African trypanosomiasis_Homo sapiens_hsa051431.56047372
32Chemokine signaling pathway_Homo sapiens_hsa040621.54142817
33Toxoplasmosis_Homo sapiens_hsa051451.53607646
34Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.51656074
35Apoptosis_Homo sapiens_hsa042101.46051579
36Viral myocarditis_Homo sapiens_hsa054161.44061814
37Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.34032827
38T cell receptor signaling pathway_Homo sapiens_hsa046601.28691465
39Shigellosis_Homo sapiens_hsa051311.26254602
40Salmonella infection_Homo sapiens_hsa051321.22454769
41Hepatitis B_Homo sapiens_hsa051611.21431196
42Hepatitis C_Homo sapiens_hsa051601.06995275
43Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.04251156
44Epstein-Barr virus infection_Homo sapiens_hsa051690.89262066
45Phagosome_Homo sapiens_hsa041450.88040284
46AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.81820957
47Leukocyte transendothelial migration_Homo sapiens_hsa046700.79309387
48Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.79006963
49Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.78887399
50Acute myeloid leukemia_Homo sapiens_hsa052210.78181303
51Glycosaminoglycan degradation_Homo sapiens_hsa005310.76198860
52Prolactin signaling pathway_Homo sapiens_hsa049170.74909245
53Lysosome_Homo sapiens_hsa041420.73800520
54SNARE interactions in vesicular transport_Homo sapiens_hsa041300.71824856
55Transcriptional misregulation in cancer_Homo sapiens_hsa052020.70870729
56Base excision repair_Homo sapiens_hsa034100.67509215
57Chronic myeloid leukemia_Homo sapiens_hsa052200.64905262
58Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.64430466
59Pancreatic cancer_Homo sapiens_hsa052120.64150996
60Viral carcinogenesis_Homo sapiens_hsa052030.63673935
61Platelet activation_Homo sapiens_hsa046110.60316949
62Other glycan degradation_Homo sapiens_hsa005110.59734554
63Neurotrophin signaling pathway_Homo sapiens_hsa047220.53735508
64Phosphatidylinositol signaling system_Homo sapiens_hsa040700.51025520
65p53 signaling pathway_Homo sapiens_hsa041150.49695557
66HTLV-I infection_Homo sapiens_hsa051660.49582402
67Small cell lung cancer_Homo sapiens_hsa052220.48444346
68Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.47516150
69Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.45777991
70Amoebiasis_Homo sapiens_hsa051460.45015119
71Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.42740221
72Proteasome_Homo sapiens_hsa030500.42119905
73Notch signaling pathway_Homo sapiens_hsa043300.41093584
74Adipocytokine signaling pathway_Homo sapiens_hsa049200.39525376
75Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.37259690
76Renal cell carcinoma_Homo sapiens_hsa052110.37223138
77Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.33428548
78Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.33268100
79Inositol phosphate metabolism_Homo sapiens_hsa005620.32864957
80Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.32757225
81Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.32641239
82Carbohydrate digestion and absorption_Homo sapiens_hsa049730.32243990
83Endocytosis_Homo sapiens_hsa041440.31379862
84Homologous recombination_Homo sapiens_hsa034400.27572719
85DNA replication_Homo sapiens_hsa030300.26119096
86Colorectal cancer_Homo sapiens_hsa052100.25652339
87Endometrial cancer_Homo sapiens_hsa052130.25345967
88Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.24052374
89Dorso-ventral axis formation_Homo sapiens_hsa043200.23585396
90Sphingolipid signaling pathway_Homo sapiens_hsa040710.23060283
91Prion diseases_Homo sapiens_hsa050200.22690148
92Regulation of actin cytoskeleton_Homo sapiens_hsa048100.22463058
93HIF-1 signaling pathway_Homo sapiens_hsa040660.21803291
94mTOR signaling pathway_Homo sapiens_hsa041500.21509029
95Phospholipase D signaling pathway_Homo sapiens_hsa040720.21257732
96Choline metabolism in cancer_Homo sapiens_hsa052310.20650196
97Non-homologous end-joining_Homo sapiens_hsa034500.19244267
98Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.17850035
99MicroRNAs in cancer_Homo sapiens_hsa052060.17669074
100FoxO signaling pathway_Homo sapiens_hsa040680.16568155
101VEGF signaling pathway_Homo sapiens_hsa043700.15971648
102One carbon pool by folate_Homo sapiens_hsa006700.15803173
103GnRH signaling pathway_Homo sapiens_hsa049120.15761564
104Systemic lupus erythematosus_Homo sapiens_hsa053220.15112126
105MAPK signaling pathway_Homo sapiens_hsa040100.13268190
106Insulin resistance_Homo sapiens_hsa049310.12858335
107Glioma_Homo sapiens_hsa052140.12435954
108Type II diabetes mellitus_Homo sapiens_hsa049300.12361477
109Proteoglycans in cancer_Homo sapiens_hsa052050.11162757
110Non-small cell lung cancer_Homo sapiens_hsa052230.11158229
111Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.08561405
112Long-term potentiation_Homo sapiens_hsa047200.07735062
113Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.07214526
114Prostate cancer_Homo sapiens_hsa052150.06431331
115ErbB signaling pathway_Homo sapiens_hsa040120.05836787
116Complement and coagulation cascades_Homo sapiens_hsa046100.05699437
117Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.05156320
118Vitamin digestion and absorption_Homo sapiens_hsa049770.04938889

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