SP100

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 subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of gamma-delta T cell activation (GO:0046645)6.49963769
2antigen processing and presentation of endogenous peptide antigen (GO:0002483)6.42579453
3antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)6.42579453
4antigen processing and presentation of endogenous antigen (GO:0019883)6.31892414
5antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.39287410
6negative T cell selection (GO:0043383)5.23378831
7negative thymic T cell selection (GO:0045060)5.18955956
8positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.98214464
9regulation of B cell receptor signaling pathway (GO:0050855)4.92082751
10negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.81172313
11negative regulation of cell killing (GO:0031342)4.81172313
12T cell migration (GO:0072678)4.78064860
13positive thymic T cell selection (GO:0045059)4.71951777
14regulation of gamma-delta T cell differentiation (GO:0045586)4.70908457
15regulation of gamma-delta T cell activation (GO:0046643)4.56267998
16leukocyte aggregation (GO:0070486)4.51521206
17* response to type I interferon (GO:0034340)4.46735125
18* cellular response to type I interferon (GO:0071357)4.43311536
19* type I interferon signaling pathway (GO:0060337)4.43311536
20interferon-gamma production (GO:0032609)4.27746275
21thymic T cell selection (GO:0045061)4.22750600
22positive regulation of interleukin-2 biosynthetic process (GO:0045086)4.17164114
23cellular response to interleukin-15 (GO:0071350)4.11909907
24response to interleukin-15 (GO:0070672)4.09697273
25T cell selection (GO:0045058)4.08329182
26positive T cell selection (GO:0043368)4.05338438
27regulation of alpha-beta T cell proliferation (GO:0046640)4.02471526
28B cell receptor signaling pathway (GO:0050853)3.96111562
29regulation of T cell tolerance induction (GO:0002664)3.94869234
30regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.91062351
31positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.86229269
32positive regulation of alpha-beta T cell proliferation (GO:0046641)3.77621152
33immunoglobulin mediated immune response (GO:0016064)3.76827467
34regulation of B cell differentiation (GO:0045577)3.74352593
35positive regulation of interferon-alpha production (GO:0032727)3.73365577
36regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.67679588
37regulation of isotype switching to IgG isotypes (GO:0048302)3.67384982
38mast cell activation (GO:0045576)3.61380435
39cellular response to zinc ion (GO:0071294)3.60630421
40* interferon-gamma-mediated signaling pathway (GO:0060333)3.60485051
41cellular response to interferon-beta (GO:0035458)3.59778525
42negative regulation of interleukin-12 production (GO:0032695)3.59760952
43macrophage activation involved in immune response (GO:0002281)3.59138616
44regulation of interferon-alpha production (GO:0032647)3.56382371
45regulation of interleukin-12 biosynthetic process (GO:0045075)3.56341837
46T cell costimulation (GO:0031295)3.50489858
47positive regulation of antigen processing and presentation (GO:0002579)3.48319104
48regulation of type I interferon-mediated signaling pathway (GO:0060338)3.45433747
49lymphocyte costimulation (GO:0031294)3.45354305
50NIK/NF-kappaB signaling (GO:0038061)3.44275822
51negative regulation of lymphocyte mediated immunity (GO:0002707)3.43597517
52regulation of regulatory T cell differentiation (GO:0045589)3.42886244
53neutrophil activation involved in immune response (GO:0002283)3.42318021
54antigen processing and presentation via MHC class Ib (GO:0002475)3.41059032
55antigen receptor-mediated signaling pathway (GO:0050851)3.40099992
56regulation of T cell receptor signaling pathway (GO:0050856)3.39386431
57regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.39182337
58regulation of T cell mediated cytotoxicity (GO:0001914)3.35555565
59positive regulation of B cell differentiation (GO:0045579)3.32379581
60positive regulation of interleukin-2 production (GO:0032743)3.29880960
61detection of molecule of bacterial origin (GO:0032490)3.29488874
62defense response to protozoan (GO:0042832)3.29326183
63T cell receptor signaling pathway (GO:0050852)3.28646487
64leukocyte cell-cell adhesion (GO:0007159)3.27895423
65myeloid dendritic cell activation (GO:0001773)3.27597896
66positive regulation by symbiont of host defense response (GO:0052509)3.25654208
67modulation by symbiont of host defense response (GO:0052031)3.25654208
68modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.25654208
69modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.25654208
70positive regulation by organism of defense response of other organism involved in symbiotic interact3.25654208
71modulation by symbiont of host immune response (GO:0052553)3.25654208
72neutrophil activation (GO:0042119)3.22557671
73detection of other organism (GO:0098543)3.21599904
74positive regulation of humoral immune response (GO:0002922)3.20660288
75regulation of RIG-I signaling pathway (GO:0039535)3.20343252
76regulation of response to interferon-gamma (GO:0060330)3.20277549
77positive regulation of isotype switching (GO:0045830)3.19740622
78positive regulation of T cell mediated cytotoxicity (GO:0001916)3.19674777
79response to protozoan (GO:0001562)3.16699038
80tolerance induction (GO:0002507)3.15202406
81regulation of tolerance induction (GO:0002643)3.15114722
82microglial cell activation (GO:0001774)3.14273714
83Arp2/3 complex-mediated actin nucleation (GO:0034314)3.13893900
84positive regulation of defense response to virus by host (GO:0002230)3.13526323
85natural killer cell activation (GO:0030101)3.12930167
86regulation of interferon-beta biosynthetic process (GO:0045357)3.11847650
87regulation of antigen processing and presentation (GO:0002577)3.11398331
88response to interferon-beta (GO:0035456)3.11253361
89negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.10971519
90cellular response to exogenous dsRNA (GO:0071360)3.08730570
91regulation of interleukin-2 biosynthetic process (GO:0045076)3.07934704
92detection of external biotic stimulus (GO:0098581)3.06172731
93respiratory burst (GO:0045730)3.05488131
94B cell mediated immunity (GO:0019724)3.05125095
95detection of bacterium (GO:0016045)3.04730206
96response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.04220326
97response to host immune response (GO:0052572)3.04220326
98response to peptidoglycan (GO:0032494)3.02758625
99negative regulation of T-helper cell differentiation (GO:0045623)3.02636671
100negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.02636671
101response to interferon-alpha (GO:0035455)3.02057966
102negative regulation of leukocyte mediated immunity (GO:0002704)3.01722254
103regulation of interferon-gamma-mediated signaling pathway (GO:0060334)3.01525968
104granulocyte activation (GO:0036230)3.00501878
105negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.99712851
106cellular extravasation (GO:0045123)2.98294361
107positive regulation of immunoglobulin mediated immune response (GO:0002891)2.97896413
108positive regulation of B cell mediated immunity (GO:0002714)2.97896413
109regulation of T-helper 1 cell differentiation (GO:0045625)2.96142005
110myeloid dendritic cell differentiation (GO:0043011)2.94743180
111activated T cell proliferation (GO:0050798)2.92693878
112negative regulation of adaptive immune response based on somatic recombination of immune receptors b2.92621386
113lymphocyte migration (GO:0072676)2.92224275
114regulation of dendritic cell antigen processing and presentation (GO:0002604)2.91552612
115negative regulation of viral genome replication (GO:0045071)2.91490778
116positive regulation of tolerance induction (GO:0002645)2.91277558
117interferon-gamma secretion (GO:0072643)2.90822572
118positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.89525907
119regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.88630950
120regulation of natural killer cell mediated immunity (GO:0002715)2.88630950
121response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.88501334
122response to host (GO:0075136)2.88501334
123response to host defenses (GO:0052200)2.88501334
124mature B cell differentiation (GO:0002335)2.88032567
125regulation of leukocyte mediated cytotoxicity (GO:0001910)2.86597733
126negative regulation of T cell mediated immunity (GO:0002710)2.86115055
127positive regulation of interferon-beta production (GO:0032728)2.86113586
128positive regulation of DNA recombination (GO:0045911)2.85287362
129positive regulation of granulocyte differentiation (GO:0030854)2.84539987
130T cell proliferation (GO:0042098)2.81867132
131positive regulation of interferon-gamma production (GO:0032729)2.81786054
132regulation of germinal center formation (GO:0002634)2.81480752
133myeloid cell activation involved in immune response (GO:0002275)2.79018756
134negative regulation of innate immune response (GO:0045824)2.75780717
135negative regulation of adaptive immune response (GO:0002820)2.75429363

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* IRF8_22096565_ChIP-ChIP_GC-B_Human6.58024517
2* FOXP3_17237761_ChIP-ChIP_TREG_Mouse6.15921452
3IRF8_21731497_ChIP-ChIP_J774_Mouse5.20524769
4IRF8_22096565_ChIP-ChIP_GC-B_Mouse5.10991900
5STAT6_20620947_ChIP-Seq_CD4_POS_T_Human5.08658700
6IRF1_21803131_ChIP-Seq_MONOCYTES_Human4.76786218
7MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.63996974
8STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.47031781
9BP1_19119308_ChIP-ChIP_Hs578T_Human3.46250664
10* SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.40488322
11STAT4_19710469_ChIP-ChIP_TH1__Mouse3.38288796
12IRF8_27001747_Chip-Seq_BMDM_Mouse3.37476166
13SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.01544492
14RUNX_20019798_ChIP-Seq_JUKART_Human2.95106371
15* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.87971596
16MYB_26560356_Chip-Seq_TH2_Human2.85276044
17NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.81688275
18E2F7_22180533_ChIP-Seq_HELA_Human2.74138931
19MYB_21317192_ChIP-Seq_ERMYB_Mouse2.53128894
20MAF_26560356_Chip-Seq_TH1_Human2.49569140
21MYB_26560356_Chip-Seq_TH1_Human2.43383403
22SCL_19346495_ChIP-Seq_HPC-7_Human2.33794995
23EGR1_19374776_ChIP-ChIP_THP-1_Human2.33344541
24* SPI1_23547873_ChIP-Seq_NB4_Human2.33287870
25RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.32448889
26MYC_22102868_ChIP-Seq_BL_Human2.22802092
27SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.22759532
28UTX_26944678_Chip-Seq_JUKART_Human2.03846558
29* VDR_21846776_ChIP-Seq_THP-1_Human1.96574700
30RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.94261232
31RUNX1_22412390_ChIP-Seq_EML_Mouse1.93345048
32FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.89043185
33BRD4_27068464_Chip-Seq_AML-cells_Mouse1.84665811
34VDR_24763502_ChIP-Seq_THP-1_Human1.80036200
35ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.77168796
36GATA3_27048872_Chip-Seq_THYMUS_Human1.75554342
37NOTCH1_21737748_ChIP-Seq_TLL_Human1.73252829
38MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.69529596
39E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.67996903
40NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.67407166
41GATA1_22025678_ChIP-Seq_K562_Human1.64034076
42ELF1_17652178_ChIP-ChIP_JURKAT_Human1.62320126
43SPI1_23127762_ChIP-Seq_K562_Human1.62082968
44NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.58742664
45MAF_26560356_Chip-Seq_TH2_Human1.57227329
46* PU_27001747_Chip-Seq_BMDM_Mouse1.52952155
47Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.49575675
48* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.42950430
49* GATA2_22383799_ChIP-Seq_G1ME_Mouse1.38571811
50LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.37783918
51SMAD_19615063_ChIP-ChIP_OVARY_Human1.37653477
52CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.37537914
53STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.36912520
54GATA3_26560356_Chip-Seq_TH2_Human1.35987004
55TCF7_22412390_ChIP-Seq_EML_Mouse1.34302007
56PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.32653105
57* VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.30394980
58SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.30017862
59FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.29765380
60CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.29219453
61TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.20264378
62RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.18335661
63* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.13987578
64GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.12139169
65CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.08725576
66BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.08666876
67CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.08386462
68* EGR1_23403033_ChIP-Seq_LIVER_Mouse1.07605998
69SMRT_27268052_Chip-Seq_Bcells_Human1.07256056
70HOXB4_20404135_ChIP-ChIP_EML_Mouse1.06432209
71CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.06201409
72PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.06048797
73ERG_20887958_ChIP-Seq_HPC-7_Mouse1.05542628
74GATA1_22383799_ChIP-Seq_G1ME_Mouse1.05427653
75SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.04787326
76GATA1_19941826_ChIP-Seq_K562_Human1.04765017
77GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.04513848
78STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.02674856
79VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.00273753
80PU.1_20513432_ChIP-Seq_Bcells_Mouse0.99965825
81* FLI1_27457419_Chip-Seq_LIVER_Mouse0.98609565
82SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.96475279
83* GATA1_19941827_ChIP-Seq_MEL_Mouse0.95420968
84JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.94798542
85TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.94390733
86PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.93968278
87GATA2_21666600_ChIP-Seq_HMVEC_Human0.92255526
88PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.92100631
89* KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.91770605
90* VDR_24787735_ChIP-Seq_THP-1_Human0.91109832
91KDM2B_26808549_Chip-Seq_DND41_Human0.90445685
92NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.89475938
93CIITA_25753668_ChIP-Seq_RAJI_Human0.86348968
94RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.85524603
95JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.82163755
96KDM2B_26808549_Chip-Seq_SUP-B15_Human0.81861644
97PRDM14_20953172_ChIP-Seq_ESCs_Human0.81595732
98TP53_16413492_ChIP-PET_HCT116_Human0.79741365
99BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.79113635
100* PCGF2_27294783_Chip-Seq_ESCs_Mouse0.78597498
101* ELK3_25401928_ChIP-Seq_HUVEC_Human0.77581726
102* SUZ12_27294783_Chip-Seq_NPCs_Mouse0.76386998
103* NFE2_27457419_Chip-Seq_LIVER_Mouse0.75915034
104THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.75546621
105STAT6_21828071_ChIP-Seq_BEAS2B_Human0.74733726
106GATA3_26560356_Chip-Seq_TH1_Human0.73921703
107* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.73509994
108* PCGF2_27294783_Chip-Seq_NPCs_Mouse0.73508127
109CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.73278556
110CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.72455652
111VDR_23849224_ChIP-Seq_CD4+_Human0.71339026
112TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.71002236
113FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.70210790
114STAT1_20625510_ChIP-Seq_HELA_Human0.69591472
115* EZH2_27294783_Chip-Seq_NPCs_Mouse0.69487320
116TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.69310270
117GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.67695346
118CJUN_26792858_Chip-Seq_BT549_Human0.66516995
119TP63_23658742_ChIP-Seq_EP156T_Human0.66456315
120TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.64886292
121GATA2_19941826_ChIP-Seq_K562_Human0.64234315
122GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.64031409
123ETS1_22383799_ChIP-Seq_G1ME_Mouse0.63681609
124FOXP3_21729870_ChIP-Seq_TREG_Human0.63678376
125ELK1_19687146_ChIP-ChIP_HELA_Human0.63666355
126SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.61826931
127EGR1_19032775_ChIP-ChIP_M12_Human0.59750919
128* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.59330724
129* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.58980255
130E2F4_17652178_ChIP-ChIP_JURKAT_Human0.58530834
131CTCF_26484167_Chip-Seq_Bcells_Mouse0.57455174
132* SPI1_20517297_ChIP-Seq_HL60_Human0.56022711

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.87381252
2MP0005671_abnormal_response_to3.95544422
3MP0000685_abnormal_immune_system3.64200525
4MP0009785_altered_susceptibility_to3.57140613
5MP0003763_abnormal_thymus_physiology3.52417439
6MP0001790_abnormal_immune_system3.47847123
7MP0005387_immune_system_phenotype3.47847123
8MP0001800_abnormal_humoral_immune3.39663417
9MP0005000_abnormal_immune_tolerance3.22035079
10MP0005025_abnormal_response_to2.98704163
11MP0002452_abnormal_antigen_presenting2.98262802
12MP0002148_abnormal_hypersensitivity_rea2.97374717
13MP0002723_abnormal_immune_serum2.95583437
14MP0002420_abnormal_adaptive_immunity2.87247256
15MP0001819_abnormal_immune_cell2.86033648
16MP0003724_increased_susceptibility_to2.82210953
17MP0003436_decreased_susceptibility_to2.82110855
18MP0002166_altered_tumor_susceptibility2.65614904
19MP0002419_abnormal_innate_immunity2.62119319
20MP0006082_CNS_inflammation2.58837473
21MP0002398_abnormal_bone_marrow2.54761048
22MP0000716_abnormal_immune_system2.35848234
23MP0002006_tumorigenesis2.28260421
24MP0003303_peritoneal_inflammation2.22529435
25MP0002405_respiratory_system_inflammati2.20348262
26MP0002396_abnormal_hematopoietic_system2.14488860
27MP0009333_abnormal_splenocyte_physiolog2.08373450
28MP0000689_abnormal_spleen_morphology2.04194366
29MP0010155_abnormal_intestine_physiology2.00391155
30MP0002722_abnormal_immune_system1.99623595
31MP0005464_abnormal_platelet_physiology1.99409386
32MP0002429_abnormal_blood_cell1.92674220
33MP0004947_skin_inflammation1.91229243
34MP0001873_stomach_inflammation1.88438433
35MP0001845_abnormal_inflammatory_respons1.88004139
36MP0004510_myositis1.85219751
37MP0001853_heart_inflammation1.82018403
38MP0000703_abnormal_thymus_morphology1.76662346
39MP0005310_abnormal_salivary_gland1.54632879
40MP0004808_abnormal_hematopoietic_stem1.52293138
41MP0000858_altered_metastatic_potential1.46823277
42MP0008469_abnormal_protein_level1.46585361
43MP0003300_gastrointestinal_ulcer1.45210376
44MP0001533_abnormal_skeleton_physiology1.44120846
45MP0002933_joint_inflammation1.42512181
46MP0003866_abnormal_defecation1.41492552
47MP0003448_altered_tumor_morphology1.40420341
48MP0001545_abnormal_hematopoietic_system1.33202896
49MP0005397_hematopoietic_system_phenotyp1.33202896
50MP0009764_decreased_sensitivity_to1.29855795
51MP0004883_abnormal_blood_vessel1.28457019
52MP0005174_abnormal_tail_pigmentation1.23030504
53MP0000465_gastrointestinal_hemorrhage1.22374400
54MP0009278_abnormal_bone_marrow1.17858889
55MP0005164_abnormal_response_to1.17612075
56MP0003656_abnormal_erythrocyte_physiolo1.09777800
57MP0008057_abnormal_DNA_replication1.07223000
58MP0005058_abnormal_lysosome_morphology0.99829914
59MP0001851_eye_inflammation0.98378759
60MP0000490_abnormal_crypts_of0.97243250
61MP0000343_altered_response_to0.95011348
62MP0002138_abnormal_hepatobiliary_system0.94085372
63MP0002998_abnormal_bone_remodeling0.93501413
64MP0003252_abnormal_bile_duct0.90494233
65MP0005075_abnormal_melanosome_morpholog0.89988866
66MP0008260_abnormal_autophagy0.89428165
67MP0002019_abnormal_tumor_incidence0.89079683
68MP0003172_abnormal_lysosome_physiology0.88462582
69MP0009763_increased_sensitivity_to0.86942310
70MP0002132_abnormal_respiratory_system0.86688513
71MP0000015_abnormal_ear_pigmentation0.85041520
72MP0003045_fibrosis0.83862404
73MP0003828_pulmonary_edema0.80914125
74MP0005451_abnormal_body_composition0.80800550
75MP0000569_abnormal_digit_pigmentation0.80605139
76MP0003183_abnormal_peptide_metabolism0.78437939
77MP0002332_abnormal_exercise_endurance0.77779954
78MP0002009_preneoplasia0.76965880
79MP0004130_abnormal_muscle_cell0.76881876
80MP0003195_calcinosis0.75633527
81MP0004381_abnormal_hair_follicle0.74968208
82MP0000604_amyloidosis0.71208390
83MP0003646_muscle_fatigue0.70920008
84MP0003950_abnormal_plasma_membrane0.70039223
85MP0006054_spinal_hemorrhage0.69860189
86MP0000249_abnormal_blood_vessel0.67599438
87MP0003191_abnormal_cellular_cholesterol0.64900674
88MP0002277_abnormal_respiratory_mucosa0.63903620
89MP0002095_abnormal_skin_pigmentation0.62753415
90MP0002168_other_aberrant_phenotype0.61652416
91MP0002136_abnormal_kidney_physiology0.60831169
92MP0001958_emphysema0.60661101
93MP0001348_abnormal_lacrimal_gland0.60071725
94MP0010307_abnormal_tumor_latency0.59522731
95MP0005166_decreased_susceptibility_to0.59341893
96MP0003279_aneurysm0.57629996
97MP0005390_skeleton_phenotype0.56929714
98MP0005376_homeostasis/metabolism_phenot0.55604036
99MP0009765_abnormal_xenobiotic_induced0.55445689
100MP0004484_altered_response_of0.54606195
101MP0000371_diluted_coat_color0.54416497
102MP0001663_abnormal_digestive_system0.54037951
103MP0002163_abnormal_gland_morphology0.53947767
104MP0010352_gastrointestinal_tract_polyps0.53222195
105MP0008004_abnormal_stomach_pH0.53066171
106MP0003453_abnormal_keratinocyte_physiol0.51447952
107MP0005023_abnormal_wound_healing0.51032692
108MP0003075_altered_response_to0.50608542
109MP0003795_abnormal_bone_structure0.49435553
110MP0001191_abnormal_skin_condition0.48478849
111MP0003091_abnormal_cell_migration0.47510496
112MP0010094_abnormal_chromosome_stability0.44135935
113MP0003566_abnormal_cell_adhesion0.43014889
114MP0003077_abnormal_cell_cycle0.42647601
115MP0008058_abnormal_DNA_repair0.42299791
116MP0000313_abnormal_cell_death0.41437450
117MP0002693_abnormal_pancreas_physiology0.41041222
118MP0003943_abnormal_hepatobiliary_system0.40254442

Predicted human phenotypes

RankGene SetZ-score
1Elevated erythrocyte sedimentation rate (HP:0003565)5.49685467
2Recurrent abscess formation (HP:0002722)5.28142416
3Eczematoid dermatitis (HP:0000976)5.10646331
4Myositis (HP:0100614)4.86555243
5Abnormality of T cell number (HP:0011839)4.84232204
6Chronic otitis media (HP:0000389)4.82831242
7T lymphocytopenia (HP:0005403)4.78521426
8Recurrent bronchitis (HP:0002837)4.70211056
9Recurrent bacterial skin infections (HP:0005406)4.58498776
10Recurrent viral infections (HP:0004429)4.54564036
11Recurrent fungal infections (HP:0002841)4.44406069
12IgM deficiency (HP:0002850)4.13453081
13Recurrent cutaneous fungal infections (HP:0011370)3.98300706
14Chronic mucocutaneous candidiasis (HP:0002728)3.98300706
15Retrobulbar optic neuritis (HP:0100654)3.96244824
16Optic neuritis (HP:0100653)3.96244824
17Abnormality of T cells (HP:0002843)3.93679908
18Autoimmune thrombocytopenia (HP:0001973)3.91318477
19Agammaglobulinemia (HP:0004432)3.89865932
20Vasculitis (HP:0002633)3.89153207
21Orchitis (HP:0100796)3.84498856
22Mediastinal lymphadenopathy (HP:0100721)3.83220546
23Abnormal delayed hypersensitivity skin test (HP:0002963)3.79029201
24Meningitis (HP:0001287)3.71553289
25Increased IgM level (HP:0003496)3.67247101
26IgG deficiency (HP:0004315)3.65637335
27Recurrent skin infections (HP:0001581)3.63416952
28Nasal polyposis (HP:0100582)3.62063055
29Panhypogammaglobulinemia (HP:0003139)3.55863671
30Stomatitis (HP:0010280)3.44200478
31Pustule (HP:0200039)3.40980825
32Lymphopenia (HP:0001888)3.34048468
33Severe combined immunodeficiency (HP:0004430)3.33447668
34Abnormality of the nasal mucosa (HP:0000433)3.32281727
35Recurrent gram-negative bacterial infections (HP:0005420)3.31969644
36Autoimmune hemolytic anemia (HP:0001890)3.28272515
37Abnormality of cells of the lymphoid lineage (HP:0012140)3.27872614
38Chronic obstructive pulmonary disease (HP:0006510)3.25626896
39Obstructive lung disease (HP:0006536)3.25626896
40Abnormality of macrophages (HP:0004311)3.23217628
41Combined immunodeficiency (HP:0005387)3.22217554
42Thyroiditis (HP:0100646)3.22146411
43Inflammation of the large intestine (HP:0002037)3.20920076
44Eosinophilia (HP:0001880)3.17590751
45Abnormality of eosinophils (HP:0001879)3.11536850
46Abnormality of T cell physiology (HP:0011840)3.10489383
47Recurrent sinusitis (HP:0011108)3.10220767
48Leukocytosis (HP:0001974)3.09852997
49Colitis (HP:0002583)3.07960560
50Gastrointestinal inflammation (HP:0004386)3.07100196
51Pulmonary infiltrates (HP:0002113)3.06907273
52Gastrointestinal stroma tumor (HP:0100723)3.06129714
53Chronic sinusitis (HP:0011109)3.03520330
54Cellulitis (HP:0100658)3.03041732
55Abnormality of the fingertips (HP:0001211)3.00948482
56Spontaneous hematomas (HP:0007420)2.98028988
57Encephalitis (HP:0002383)2.97544263
58Chronic diarrhea (HP:0002028)2.96559985
59Thrombocytosis (HP:0001894)2.94249459
60IgA deficiency (HP:0002720)2.93586887
61Keratoconjunctivitis sicca (HP:0001097)2.87175348
62Hypergammaglobulinemia (HP:0010702)2.86651418
63Granulocytopenia (HP:0001913)2.86214122
64Hemoptysis (HP:0002105)2.85629343
65Abnormality of B cell number (HP:0010975)2.85114592
66B lymphocytopenia (HP:0010976)2.85114592
67Gingivitis (HP:0000230)2.74948619
68Gastrointestinal infarctions (HP:0005244)2.68334047
69Arterial thrombosis (HP:0004420)2.67853583
70Keratoconjunctivitis (HP:0001096)2.67182979
71Periodontitis (HP:0000704)2.62145816
72Bronchitis (HP:0012387)2.55452224
73Petechiae (HP:0000967)2.54241670
74Recurrent pneumonia (HP:0006532)2.50208849
75Emphysema (HP:0002097)2.49324740
76Gangrene (HP:0100758)2.48408749
77Abnormality of the prostate (HP:0008775)2.47018853
78Joint swelling (HP:0001386)2.46935438
79Increased IgE level (HP:0003212)2.46509886
80Basal ganglia calcification (HP:0002135)2.45473671
81Lymphoma (HP:0002665)2.44944045
82Interstitial pulmonary disease (HP:0006530)2.41666006
83Hematochezia (HP:0002573)2.40916091
84Prolonged bleeding time (HP:0003010)2.39728905
85Recurrent lower respiratory tract infections (HP:0002783)2.37583132
86Anorexia (HP:0002039)2.36133248
87Chest pain (HP:0100749)2.35339802
88Epistaxis (HP:0000421)2.35161966
89Gingival bleeding (HP:0000225)2.30814410
90Peritonitis (HP:0002586)2.30771651
91Osteomyelitis (HP:0002754)2.27277544
92Verrucae (HP:0200043)2.24024631
93Papilloma (HP:0012740)2.24024631
94Skin ulcer (HP:0200042)2.20107797
95Vacuolated lymphocytes (HP:0001922)2.13635172
96Abnormality of the pericardium (HP:0001697)2.10125531
97Keratitis (HP:0000491)2.07914066
98Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.06939953
99Sepsis (HP:0100806)2.04660370
100Stomach cancer (HP:0012126)2.03211597
101Spondylolisthesis (HP:0003302)2.02958665
102Restrictive lung disease (HP:0002091)1.99933862
103Arthralgia (HP:0002829)1.99560108
104Hypoplasia of the thymus (HP:0000778)1.99200504
105Urticaria (HP:0001025)1.98995453
106Abnormality of the pleura (HP:0002103)1.98377095
107Abnormality of glycolipid metabolism (HP:0010969)1.97851330
108Abnormality of liposaccharide metabolism (HP:0010968)1.97851330
109Abnormality of glycosphingolipid metabolism (HP:0004343)1.97851330
110Polyneuropathy (HP:0001271)1.96059597
111Hypochromic anemia (HP:0001931)1.95598670
112Prostate neoplasm (HP:0100787)1.95250746
113Glomerulopathy (HP:0100820)1.95195479
114Pulmonary embolism (HP:0002204)1.94090535
115Cheilitis (HP:0100825)1.93664358
116Acute hepatic failure (HP:0006554)1.88643634
117Skin rash (HP:0000988)1.85971838

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K15.11689795
2TXK4.44272811
3MAP3K143.35012911
4TYK23.31254316
5JAK33.13949508
6IKBKE2.98019338
7BLK2.86089059
8IRAK42.67538833
9FRK2.58926958
10TBK12.57902526
11ZAP702.48694774
12KIT2.44274393
13JAK12.39873840
14STK102.29298807
15ITK2.19096868
16FGFR42.15022061
17SYK1.96159396
18BTK1.96087857
19MAP3K131.92761768
20TEC1.91502515
21CSK1.90058830
22IKBKB1.77974989
23LCK1.72631910
24GRK61.72522973
25RIPK41.63062306
26IRAK31.56005111
27FGFR31.55426957
28CSF1R1.53120313
29HCK1.52154908
30PIK3CG1.49761799
31NLK1.44119087
32MST41.38485231
33CLK11.28554414
34LYN1.26408270
35KDR1.23599871
36TGFBR21.21827627
37FES1.21125489
38ERN11.15597250
39PIM11.13209894
40CHUK1.08861980
41TAOK31.07223301
42LRRK21.06967828
43EPHB11.06329532
44MARK31.05973987
45CAMKK21.05460158
46PRKCQ1.04881957
47PRPF4B1.03637906
48SIK31.00195370
49ACVR1B0.99634151
50MAP3K30.91390986
51SIK20.85930666
52RPS6KA40.85917725
53MAP3K100.84292991
54PTK2B0.83972029
55FLT30.83353651
56PIM20.83150577
57JAK20.80663942
58STK40.78587701
59NME20.78503733
60TNK20.73599429
61EPHA30.72234195
62CDC42BPA0.70983162
63TRPM70.67320814
64NEK90.66201663
65MAP2K30.61931146
66MAP3K10.60839155
67ADRBK20.60287639
68PRKCH0.58837361
69NUAK10.54099845
70MAP3K110.53202770
71SGK20.52703531
72MELK0.51833767
73IRAK10.51732875
74ADRBK10.51302363
75TLK10.51203405
76EIF2AK20.50974345
77GRK50.48482988
78MAP3K70.48291689
79PRKD20.47306494
80PRKCD0.45477533
81MAP3K120.44354581
82CDK40.43623602
83TAOK20.43447699
84WNK10.43095580
85SGK30.40902152
86ABL10.40651497
87MAPK110.40092280
88RPS6KA60.39813621
89MATK0.39590756
90MAP3K60.39582552
91CDK120.39576938
92TTN0.38203471
93TGFBR10.37661762
94STK380.37014936
95BMPR20.36680258
96FYN0.36196732
97STK240.35885643
98MAP3K20.35141196
99FGR0.35061062
100MAPK40.33256089
101MAP2K60.33180058
102TESK20.33004500
103HIPK20.32359697
104RPS6KA50.31863265
105YES10.31666462
106MAPKAPK20.31189691
107ATR0.29855980
108EGFR0.29583829
109IGF1R0.29582298
110MAP3K50.29017330
111MARK20.28854616
112PDK10.28061898
113CAMKK10.27919653
114GRK10.27456636
115MAPK70.27320021
116INSR0.27008593
117EEF2K0.25436358
118PRKAA20.25428797
119RPS6KC10.25397146
120RPS6KL10.25397146
121PDPK10.24841600
122CDK90.24220071
123PDGFRB0.24126051
124MAPK30.23673770
125CDK60.20958165
126TIE10.20629496
127MAPK120.19947464
128GRK70.19546222

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053404.42131927
2Graft-versus-host disease_Homo sapiens_hsa053323.17282691
3Intestinal immune network for IgA production_Homo sapiens_hsa046723.02587017
4NF-kappa B signaling pathway_Homo sapiens_hsa040642.81239364
5Allograft rejection_Homo sapiens_hsa053302.80336631
6Measles_Homo sapiens_hsa051622.77943036
7Leishmaniasis_Homo sapiens_hsa051402.72537189
8Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.57694286
9Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.55290746
10Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.51343562
11Antigen processing and presentation_Homo sapiens_hsa046122.39891313
12RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.29660348
13B cell receptor signaling pathway_Homo sapiens_hsa046622.28433264
14T cell receptor signaling pathway_Homo sapiens_hsa046602.24308445
15Hematopoietic cell lineage_Homo sapiens_hsa046402.23885731
16Toll-like receptor signaling pathway_Homo sapiens_hsa046202.12435802
17Osteoclast differentiation_Homo sapiens_hsa043802.12391075
18* Herpes simplex infection_Homo sapiens_hsa051681.88221424
19NOD-like receptor signaling pathway_Homo sapiens_hsa046211.82787563
20Autoimmune thyroid disease_Homo sapiens_hsa053201.81874700
21Influenza A_Homo sapiens_hsa051641.75631102
22Viral myocarditis_Homo sapiens_hsa054161.71874116
23Jak-STAT signaling pathway_Homo sapiens_hsa046301.68185263
24Staphylococcus aureus infection_Homo sapiens_hsa051501.64546541
25Malaria_Homo sapiens_hsa051441.58785270
26Toxoplasmosis_Homo sapiens_hsa051451.50376857
27Chemokine signaling pathway_Homo sapiens_hsa040621.48059453
28Legionellosis_Homo sapiens_hsa051341.47620389
29Pertussis_Homo sapiens_hsa051331.45220313
30Tuberculosis_Homo sapiens_hsa051521.42288098
31TNF signaling pathway_Homo sapiens_hsa046681.39548010
32Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.36242153
33Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.36137544
34Asthma_Homo sapiens_hsa053101.35935373
35Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.35244791
36Hepatitis B_Homo sapiens_hsa051611.31587234
37Leukocyte transendothelial migration_Homo sapiens_hsa046701.26574153
38Type I diabetes mellitus_Homo sapiens_hsa049401.25819615
39Apoptosis_Homo sapiens_hsa042101.24914216
40Shigellosis_Homo sapiens_hsa051311.23782407
41Hepatitis C_Homo sapiens_hsa051601.11136875
42Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.09380906
43African trypanosomiasis_Homo sapiens_hsa051431.07888396
44Salmonella infection_Homo sapiens_hsa051321.04004815
45Rheumatoid arthritis_Homo sapiens_hsa053231.01502754
46Acute myeloid leukemia_Homo sapiens_hsa052210.99085749
47Platelet activation_Homo sapiens_hsa046110.88722016
48Transcriptional misregulation in cancer_Homo sapiens_hsa052020.83852046
49Epstein-Barr virus infection_Homo sapiens_hsa051690.82355480
50Dorso-ventral axis formation_Homo sapiens_hsa043200.81209762
51Pancreatic cancer_Homo sapiens_hsa052120.78551382
52Other glycan degradation_Homo sapiens_hsa005110.77172182
53AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.76250957
54Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.75888355
55Non-homologous end-joining_Homo sapiens_hsa034500.73879441
56HTLV-I infection_Homo sapiens_hsa051660.72184844
57Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.68907523
58Base excision repair_Homo sapiens_hsa034100.67964537
59Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.67834830
60Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.65416248
61Chronic myeloid leukemia_Homo sapiens_hsa052200.64765742
62Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.62078918
63Lysosome_Homo sapiens_hsa041420.58879399
64DNA replication_Homo sapiens_hsa030300.58784718
65Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.57099535
66* Viral carcinogenesis_Homo sapiens_hsa052030.56796323
67p53 signaling pathway_Homo sapiens_hsa041150.55978218
68Prolactin signaling pathway_Homo sapiens_hsa049170.55923565
69Complement and coagulation cascades_Homo sapiens_hsa046100.53828699
70Small cell lung cancer_Homo sapiens_hsa052220.49957015
71Glycosaminoglycan degradation_Homo sapiens_hsa005310.49299936
72Notch signaling pathway_Homo sapiens_hsa043300.48476538
73Caffeine metabolism_Homo sapiens_hsa002320.48006447
74Neurotrophin signaling pathway_Homo sapiens_hsa047220.47489017
75Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45187823
76Homologous recombination_Homo sapiens_hsa034400.45126014
77Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.44892217
78Phagosome_Homo sapiens_hsa041450.43711046
79Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.42865023
80Linoleic acid metabolism_Homo sapiens_hsa005910.41525931
81Arachidonic acid metabolism_Homo sapiens_hsa005900.38962247
82alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.38454255
83Mismatch repair_Homo sapiens_hsa034300.38264625
84Regulation of actin cytoskeleton_Homo sapiens_hsa048100.38245586
85Carbohydrate digestion and absorption_Homo sapiens_hsa049730.37229034
86VEGF signaling pathway_Homo sapiens_hsa043700.36730260
87Ribosome_Homo sapiens_hsa030100.34654107
88Sphingolipid signaling pathway_Homo sapiens_hsa040710.31329937
89Colorectal cancer_Homo sapiens_hsa052100.29812298
90Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.28693612
91Non-small cell lung cancer_Homo sapiens_hsa052230.28561325
92Phospholipase D signaling pathway_Homo sapiens_hsa040720.27209886
93FoxO signaling pathway_Homo sapiens_hsa040680.26703891
94mTOR signaling pathway_Homo sapiens_hsa041500.26177324
95Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.25814985
96SNARE interactions in vesicular transport_Homo sapiens_hsa041300.25414489
97ABC transporters_Homo sapiens_hsa020100.24110442
98Renal cell carcinoma_Homo sapiens_hsa052110.23725517
99Fanconi anemia pathway_Homo sapiens_hsa034600.23693993
100Endocytosis_Homo sapiens_hsa041440.23656224
101Phosphatidylinositol signaling system_Homo sapiens_hsa040700.23292449
102Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.22975435
103Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.22956930
104Vascular smooth muscle contraction_Homo sapiens_hsa042700.21665275
105HIF-1 signaling pathway_Homo sapiens_hsa040660.21608553
106Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.21146656
107Regulation of autophagy_Homo sapiens_hsa041400.21142029
108Amoebiasis_Homo sapiens_hsa051460.20719710
109Glycerophospholipid metabolism_Homo sapiens_hsa005640.20470156
110Type II diabetes mellitus_Homo sapiens_hsa049300.20397845
111Glycerolipid metabolism_Homo sapiens_hsa005610.20211747
112Inositol phosphate metabolism_Homo sapiens_hsa005620.18884541
113Adipocytokine signaling pathway_Homo sapiens_hsa049200.18754568
114MAPK signaling pathway_Homo sapiens_hsa040100.15620606
115Systemic lupus erythematosus_Homo sapiens_hsa053220.15066345
116Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.14558277
117MicroRNAs in cancer_Homo sapiens_hsa052060.14106263
118Insulin resistance_Homo sapiens_hsa049310.13930901
119Prostate cancer_Homo sapiens_hsa052150.13869370

Most similar genes based on co-expression Upload to Enrichr

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