CIITA

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 protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the 'master control factor' for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. Several transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of endogenous antigen (GO:0019883)8.88272859
2regulation of dendritic cell antigen processing and presentation (GO:0002604)6.33781217
3B cell receptor signaling pathway (GO:0050853)5.80063500
4regulation of B cell receptor signaling pathway (GO:0050855)5.74966116
5cellular response to zinc ion (GO:0071294)5.66589139
6antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.60970021
7antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.60970021
8positive regulation of antigen processing and presentation (GO:0002579)5.45686013
9positive regulation of gamma-delta T cell activation (GO:0046645)5.42368565
10regulation of interferon-beta biosynthetic process (GO:0045357)5.14079571
11NIK/NF-kappaB signaling (GO:0038061)4.83584379
12negative regulation of cell killing (GO:0031342)4.80358080
13negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.80358080
14immunoglobulin mediated immune response (GO:0016064)4.71825238
15regulation of B cell differentiation (GO:0045577)4.71084620
16positive thymic T cell selection (GO:0045059)4.68626459
17regulation of antigen processing and presentation (GO:0002577)4.61692886
18antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.53413288
19negative thymic T cell selection (GO:0045060)4.42432255
20regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.41127757
21positive regulation of type 2 immune response (GO:0002830)4.35098742
22detection of bacterium (GO:0016045)4.28388499
23detection of other organism (GO:0098543)4.22876475
24myeloid dendritic cell differentiation (GO:0043011)4.21627966
25regulation of interleukin-12 biosynthetic process (GO:0045075)4.16032181
26positive regulation of B cell differentiation (GO:0045579)4.15737322
27positive regulation of interferon-alpha production (GO:0032727)4.10707738
28negative T cell selection (GO:0043383)4.07959864
29myeloid dendritic cell activation (GO:0001773)4.06024945
30mature B cell differentiation (GO:0002335)4.01458243
31positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.95763727
32positive regulation of interleukin-12 production (GO:0032735)3.93195678
33* interferon-gamma-mediated signaling pathway (GO:0060333)3.88398219
34regulation of B cell proliferation (GO:0030888)3.85269781
35regulation of interferon-alpha production (GO:0032647)3.85254058
36neutrophil activation (GO:0042119)3.79135782
37positive regulation of macrophage cytokine production (GO:0060907)3.76948131
38positive regulation of B cell proliferation (GO:0030890)3.72969902
39macrophage activation involved in immune response (GO:0002281)3.72392466
40regulation of alpha-beta T cell proliferation (GO:0046640)3.71476183
41thymic T cell selection (GO:0045061)3.70058163
42regulation of gamma-delta T cell activation (GO:0046643)3.66399496
43neutrophil activation involved in immune response (GO:0002283)3.63994533
44positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.61853765
45B cell mediated immunity (GO:0019724)3.61695434
46cellular extravasation (GO:0045123)3.60665038
47regulation of gamma-delta T cell differentiation (GO:0045586)3.59896887
48CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)3.59095937
49positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.57562977
50response to type I interferon (GO:0034340)3.55783547
51defense response to protozoan (GO:0042832)3.55567648
52B cell proliferation (GO:0042100)3.50752121
53cellular response to type I interferon (GO:0071357)3.49833357
54type I interferon signaling pathway (GO:0060337)3.49833357
55positive regulation of B cell activation (GO:0050871)3.48924996
56positive regulation of interleukin-2 production (GO:0032743)3.47532481
57granulocyte activation (GO:0036230)3.47454816
58detection of external biotic stimulus (GO:0098581)3.46587914
59negative regulation of B cell proliferation (GO:0030889)3.46570677
60negative regulation of T cell mediated immunity (GO:0002710)3.44809210
61negative regulation of interleukin-12 production (GO:0032695)3.44569810
62regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.42294935
63positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.40805864
64germinal center formation (GO:0002467)3.39934886
65dendritic cell differentiation (GO:0097028)3.39262331
66response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.37639913
67response to host immune response (GO:0052572)3.37639913
68JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)3.37076270
69cytidine metabolic process (GO:0046087)3.36682449
70cytidine catabolic process (GO:0006216)3.36682449
71cytidine deamination (GO:0009972)3.36682449
72natural killer cell mediated immunity (GO:0002228)3.33805980
73natural killer cell mediated cytotoxicity (GO:0042267)3.33805980
74regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.32077638
75regulation of interleukin-12 production (GO:0032655)3.31232776
76negative regulation of lymphocyte mediated immunity (GO:0002707)3.30685071
77T cell selection (GO:0045058)3.29121771
78cellular response to interferon-beta (GO:0035458)3.26706594
79T-helper 1 type immune response (GO:0042088)3.26332014
80response to muramyl dipeptide (GO:0032495)3.26133887
81positive regulation of granulocyte chemotaxis (GO:0071624)3.25507552
82respiratory burst (GO:0045730)3.25416048
83microglial cell activation (GO:0001774)3.25279765
84positive T cell selection (GO:0043368)3.24926448
85regulation of T-helper 1 cell differentiation (GO:0045625)3.24327034
86regulation of B cell apoptotic process (GO:0002902)3.24008733
87positive regulation of granulocyte differentiation (GO:0030854)3.24007659
88positive regulation of neutrophil chemotaxis (GO:0090023)3.22275898
89positive regulation of neutrophil migration (GO:1902624)3.22275898
90positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)3.21778145
91regulation of B cell activation (GO:0050864)3.21318879
92mature B cell differentiation involved in immune response (GO:0002313)3.20782102
93myeloid cell activation involved in immune response (GO:0002275)3.20605769
94negative regulation of B cell apoptotic process (GO:0002903)3.19257884
95regulation of T cell tolerance induction (GO:0002664)3.17944235
96B cell homeostasis (GO:0001782)3.15317116
97antigen receptor-mediated signaling pathway (GO:0050851)3.14995952
98positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.14176067
99response to host (GO:0075136)3.13970616
100response to host defenses (GO:0052200)3.13970616
101response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.13970616
102negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)3.13334145
103positive regulation of mast cell activation (GO:0033005)3.13182833
104regulation of interferon-gamma biosynthetic process (GO:0045072)3.11261271
105cellular response to interleukin-15 (GO:0071350)3.10158748
106positive regulation of interferon-beta production (GO:0032728)3.10118891
107regulation of mast cell degranulation (GO:0043304)3.06148653
108cellular response to ethanol (GO:0071361)3.05709864
109positive regulation by symbiont of host defense response (GO:0052509)3.04723284
110modulation by symbiont of host defense response (GO:0052031)3.04723284
111modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.04723284
112modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.04723284
113positive regulation by organism of defense response of other organism involved in symbiotic interact3.04723284
114modulation by symbiont of host immune response (GO:0052553)3.04723284
115detection of biotic stimulus (GO:0009595)3.03075113
116regulation of mast cell activation (GO:0033003)3.02882578
117T cell costimulation (GO:0031295)3.01143654
118positive regulation of cytokine biosynthetic process (GO:0042108)3.01140247
119negative regulation of leukocyte mediated immunity (GO:0002704)3.01005367
120response to interleukin-15 (GO:0070672)3.00542931
121positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610812.99397815
122Arp2/3 complex-mediated actin nucleation (GO:0034314)2.99282352
123lymphocyte homeostasis (GO:0002260)2.98919233
124response to protozoan (GO:0001562)2.97779604
125lymphocyte costimulation (GO:0031294)2.97176975
126T cell migration (GO:0072678)2.96860019
127response to peptidoglycan (GO:0032494)2.96526079
128histone H3-K36 demethylation (GO:0070544)2.96032982
129detection of molecule of bacterial origin (GO:0032490)2.95141461
130negative regulation of erythrocyte differentiation (GO:0045647)2.94278237
131dendritic cell chemotaxis (GO:0002407)2.93786010
132regulation of granulocyte differentiation (GO:0030852)2.91799527
133lymphocyte mediated immunity (GO:0002449)2.91688546
134adaptive immune response based on somatic recombination of immune receptors built from immunoglobuli2.91675835
135positive regulation of alpha-beta T cell proliferation (GO:0046641)2.90838207
136macrophage activation (GO:0042116)2.88415713
137regulation of myeloid leukocyte mediated immunity (GO:0002886)2.88071478
138antigen processing and presentation via MHC class Ib (GO:0002475)2.87335496
139regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.86835341
140regulation of mast cell activation involved in immune response (GO:0033006)2.86635969
141regulation of germinal center formation (GO:0002634)2.84901035
142activated T cell proliferation (GO:0050798)2.83929329
143leukocyte aggregation (GO:0070486)2.82615056
144regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)2.81471918

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* IRF8_22096565_ChIP-ChIP_GC-B_Human7.85681385
2IRF8_21731497_ChIP-ChIP_J774_Mouse5.99225623
3IRF8_22096565_ChIP-ChIP_GC-B_Mouse5.51717514
4FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.86863274
5* IRF8_27001747_Chip-Seq_BMDM_Mouse4.30514772
6STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.23539655
7SPI1_22096565_ChIP-ChIP_GC-B_Mouse4.06246616
8IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.55626253
9SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.30228321
10MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.28304516
11BP1_19119308_ChIP-ChIP_Hs578T_Human3.23611665
12EGR1_19374776_ChIP-ChIP_THP-1_Human3.16697890
13* MYC_22102868_ChIP-Seq_BL_Human2.92407267
14STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.90452070
15NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.89995078
16RUNX_20019798_ChIP-Seq_JUKART_Human2.61160262
17STAT4_19710469_ChIP-ChIP_TH1__Mouse2.56915566
18RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.54536866
19FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.44623686
20VDR_21846776_ChIP-Seq_THP-1_Human2.31203119
21* MYB_26560356_Chip-Seq_TH2_Human2.29901383
22E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.26735271
23MYB_21317192_ChIP-Seq_ERMYB_Mouse2.25857871
24* MAF_26560356_Chip-Seq_TH1_Human2.21443954
25NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.16369869
26SPI1_23547873_ChIP-Seq_NB4_Human2.15705435
27NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.15427838
28Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.08619272
29MYB_26560356_Chip-Seq_TH1_Human2.06830028
30VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.06644767
31* VDR_24763502_ChIP-Seq_THP-1_Human1.98372199
32BRD4_27068464_Chip-Seq_AML-cells_Mouse1.95144928
33SPI1_23127762_ChIP-Seq_K562_Human1.87434944
34RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.84191354
35SCL_19346495_ChIP-Seq_HPC-7_Human1.78510615
36ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.76049871
37IKZF1_21737484_ChIP-ChIP_HCT116_Human1.72230578
38TCF7_22412390_ChIP-Seq_EML_Mouse1.68072510
39RUNX1_22412390_ChIP-Seq_EML_Mouse1.67372430
40UTX_26944678_Chip-Seq_JUKART_Human1.65016423
41SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.57515495
42NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.54122358
43* PU_27001747_Chip-Seq_BMDM_Mouse1.53284868
44GATA3_27048872_Chip-Seq_THYMUS_Human1.51440345
45SMAD_19615063_ChIP-ChIP_OVARY_Human1.46385507
46CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.46286534
47NOTCH1_21737748_ChIP-Seq_TLL_Human1.39808030
48PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.37117937
49* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.34578601
50VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.34568370
51FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.34442842
52VDR_24787735_ChIP-Seq_THP-1_Human1.33960216
53THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.32672684
54LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.31574578
55CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.30781125
56MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.28711127
57MAF_26560356_Chip-Seq_TH2_Human1.26913759
58GATA1_22025678_ChIP-Seq_K562_Human1.26849806
59KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.24835978
60LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.24133258
61GATA2_22383799_ChIP-Seq_G1ME_Mouse1.23695313
62STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.22493553
63GATA3_26560356_Chip-Seq_TH2_Human1.22059317
64KDM2B_26808549_Chip-Seq_DND41_Human1.18386126
65GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.17555870
66STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.16398599
67CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.13990440
68PU.1_20513432_ChIP-Seq_Bcells_Mouse1.11062393
69BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.08173762
70SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.05004987
71PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.04884547
72SMRT_27268052_Chip-Seq_Bcells_Human1.03874600
73ELK3_25401928_ChIP-Seq_HUVEC_Human1.03480122
74TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.01430651
75GATA1_19941827_ChIP-Seq_MEL_Mouse1.01160865
76* BCOR_27268052_Chip-Seq_Bcells_Human0.99155675
77SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.99104787
78SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.97354439
79GATA1_22383799_ChIP-Seq_G1ME_Mouse0.95601713
80PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.94431776
81* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.93211041
82* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.92945382
83DROSHA_22980978_ChIP-Seq_HELA_Human0.90627285
84TP63_17297297_ChIP-ChIP_HaCaT_Human0.88629380
85PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.84396179
86KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.83272040
87ELF1_20517297_ChIP-Seq_JURKAT_Human0.82959871
88TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.82337639
89KDM2B_26808549_Chip-Seq_JURKAT_Human0.81973477
90RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79136579
91BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.78004940
92STAT1_20625510_ChIP-Seq_HELA_Human0.76078744
93NCOR1_26117541_ChIP-Seq_K562_Human0.75639328
94GATA2_21666600_ChIP-Seq_HMVEC_Human0.74348749
95SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.73865644
96GATA2_19941826_ChIP-Seq_K562_Human0.72269898
97CTCF_26484167_Chip-Seq_Bcells_Mouse0.69373114
98GATA3_26560356_Chip-Seq_TH1_Human0.68837468
99GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.68265823
100P300_27268052_Chip-Seq_Bcells_Human0.67182963
101* SPI1_20517297_ChIP-Seq_HL60_Human0.66987327
102CIITA_25753668_ChIP-Seq_RAJI_Human0.66701409
103SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.64678594
104BCL6_27268052_Chip-Seq_Bcells_Human0.62344523
105GATA1_19941826_ChIP-Seq_K562_Human0.62062421
106ELF1_17652178_ChIP-ChIP_JURKAT_Human0.58452462
107* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.58402531
108LXR_22292898_ChIP-Seq_THP-1_Human0.58334241
109TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.57044356
110RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.56995406
111FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.56693458

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0001835_abnormal_antigen_presentation6.35043201
2MP0000685_abnormal_immune_system4.52992198
3* MP0005387_immune_system_phenotype4.45960379
4* MP0001790_abnormal_immune_system4.45960379
5* MP0001800_abnormal_humoral_immune3.96537834
6MP0004510_myositis3.48835247
7MP0005671_abnormal_response_to3.46982526
8MP0003303_peritoneal_inflammation3.35963504
9MP0002254_reproductive_system_inflammat3.32495635
10* MP0002452_abnormal_antigen_presenting3.31609720
11* MP0005000_abnormal_immune_tolerance3.21316568
12MP0002148_abnormal_hypersensitivity_rea2.95120573
13* MP0002723_abnormal_immune_serum2.85762913
14* MP0002420_abnormal_adaptive_immunity2.74579301
15* MP0001819_abnormal_immune_cell2.72815641
16MP0009785_altered_susceptibility_to2.62601420
17* MP0005025_abnormal_response_to2.58674366
18MP0003436_decreased_susceptibility_to2.57234366
19* MP0002419_abnormal_innate_immunity2.47655722
20MP0005310_abnormal_salivary_gland2.47080052
21MP0001853_heart_inflammation2.41825186
22* MP0002398_abnormal_bone_marrow2.25004225
23* MP0000716_abnormal_immune_system2.22325197
24MP0002138_abnormal_hepatobiliary_system2.12319617
25MP0001873_stomach_inflammation2.07147975
26MP0003763_abnormal_thymus_physiology1.95992283
27MP0002166_altered_tumor_susceptibility1.95408126
28MP0002405_respiratory_system_inflammati1.90693983
29MP0000689_abnormal_spleen_morphology1.83536190
30* MP0002429_abnormal_blood_cell1.75049537
31* MP0001845_abnormal_inflammatory_respons1.75019174
32MP0002876_abnormal_thyroid_physiology1.70866097
33MP0010155_abnormal_intestine_physiology1.67758552
34MP0002006_tumorigenesis1.62745299
35* MP0002722_abnormal_immune_system1.62346516
36MP0006082_CNS_inflammation1.58931620
37MP0004947_skin_inflammation1.58571427
38MP0003183_abnormal_peptide_metabolism1.58132685
39MP0001348_abnormal_lacrimal_gland1.55030130
40MP0003300_gastrointestinal_ulcer1.54104155
41MP0009333_abnormal_splenocyte_physiolog1.51072978
42MP0001986_abnormal_taste_sensitivity1.51070801
43MP0005464_abnormal_platelet_physiology1.43923306
44MP0004381_abnormal_hair_follicle1.38943506
45MP0008469_abnormal_protein_level1.23643299
46MP0000015_abnormal_ear_pigmentation1.16595167
47MP0000569_abnormal_digit_pigmentation1.16110439
48MP0000703_abnormal_thymus_morphology1.09850103
49MP0001533_abnormal_skeleton_physiology1.05976155
50MP0009764_decreased_sensitivity_to1.03415280
51MP0003724_increased_susceptibility_to1.03170023
52MP0002132_abnormal_respiratory_system1.01847859
53MP0003866_abnormal_defecation0.99675589
54MP0003448_altered_tumor_morphology0.97993212
55MP0002933_joint_inflammation0.97855593
56MP0001346_abnormal_lacrimal_gland0.97139176
57MP0008057_abnormal_DNA_replication0.97090037
58MP0003091_abnormal_cell_migration0.96864599
59MP0002277_abnormal_respiratory_mucosa0.93380621
60MP0005174_abnormal_tail_pigmentation0.93143458
61MP0003191_abnormal_cellular_cholesterol0.92618321
62MP0002396_abnormal_hematopoietic_system0.91112607
63MP0004883_abnormal_blood_vessel0.90735973
64MP0003045_fibrosis0.88802668
65MP0005451_abnormal_body_composition0.87341862
66MP0002136_abnormal_kidney_physiology0.87235091
67MP0003453_abnormal_keratinocyte_physiol0.86860970
68MP0004808_abnormal_hematopoietic_stem0.85048124
69MP0005058_abnormal_lysosome_morphology0.83205255
70MP0000858_altered_metastatic_potential0.78471576
71MP0008961_abnormal_basal_metabolism0.77139442
72MP0009115_abnormal_fat_cell0.72861346
73MP0009278_abnormal_bone_marrow0.72057968
74MP0002998_abnormal_bone_remodeling0.68021017
75MP0010352_gastrointestinal_tract_polyps0.67409529
76MP0002928_abnormal_bile_duct0.66515230
77MP0003690_abnormal_glial_cell0.66305771
78MP0008260_abnormal_autophagy0.65513935
79MP0005076_abnormal_cell_differentiation0.64849941
80MP0003656_abnormal_erythrocyte_physiolo0.64672183
81MP0001545_abnormal_hematopoietic_system0.64230541
82MP0005397_hematopoietic_system_phenotyp0.64230541
83MP0009840_abnormal_foam_cell0.64148047
84MP0002877_abnormal_melanocyte_morpholog0.62402624
85MP0000465_gastrointestinal_hemorrhage0.61726375
86MP0003252_abnormal_bile_duct0.61617302
87MP0002019_abnormal_tumor_incidence0.61171382
88MP0001663_abnormal_digestive_system0.60698431
89MP0000490_abnormal_crypts_of0.60536507
90MP0000383_abnormal_hair_follicle0.60424660
91MP0009765_abnormal_xenobiotic_induced0.59734842
92MP0000371_diluted_coat_color0.58555597
93MP0003566_abnormal_cell_adhesion0.58311383
94MP0002163_abnormal_gland_morphology0.57049584
95MP0003828_pulmonary_edema0.55882401
96MP0005164_abnormal_response_to0.54605914
97MP0005166_decreased_susceptibility_to0.54140472
98MP0000249_abnormal_blood_vessel0.52847797
99MP0000343_altered_response_to0.52695265
100MP0008874_decreased_physiological_sensi0.52295254
101MP0005381_digestive/alimentary_phenotyp0.51822586
102MP0009763_increased_sensitivity_to0.51799817
103MP0005075_abnormal_melanosome_morpholog0.51431854
104* MP0002693_abnormal_pancreas_physiology0.51116425
105MP0008004_abnormal_stomach_pH0.50657940
106MP0000767_abnormal_smooth_muscle0.49616986
107MP0010234_abnormal_vibrissa_follicle0.49368062
108MP0004782_abnormal_surfactant_physiolog0.47516689
109MP0003795_abnormal_bone_structure0.47265545
110MP0001851_eye_inflammation0.46978998
111MP0002095_abnormal_skin_pigmentation0.46147157
112MP0010678_abnormal_skin_adnexa0.46012457
113MP0010307_abnormal_tumor_latency0.44491200
114MP0000604_amyloidosis0.43376334
115MP0003172_abnormal_lysosome_physiology0.41853767
116MP0002009_preneoplasia0.41840003
117MP0003638_abnormal_response/metabolism_0.41152442
118MP0003011_delayed_dark_adaptation0.40993686
119MP0005390_skeleton_phenotype0.40233195
120MP0001879_abnormal_lymphatic_vessel0.40218380
121MP0003075_altered_response_to0.39833451
122MP0000609_abnormal_liver_physiology0.39563857

Predicted human phenotypes

RankGene SetZ-score
1* Agammaglobulinemia (HP:0004432)6.52090977
2Gastrointestinal stroma tumor (HP:0100723)6.39253108
3Recurrent abscess formation (HP:0002722)5.35796086
4Recurrent bacterial skin infections (HP:0005406)5.27213324
5Eczematoid dermatitis (HP:0000976)5.23224579
6Recurrent bronchitis (HP:0002837)5.03940344
7Cellulitis (HP:0100658)5.00336874
8* Recurrent viral infections (HP:0004429)4.91710914
9Recurrent sinusitis (HP:0011108)4.84006579
10Chronic otitis media (HP:0000389)4.67291238
11Vasculitis (HP:0002633)4.60639126
12* Recurrent fungal infections (HP:0002841)4.49952404
13* Colitis (HP:0002583)4.29604195
14Emphysema (HP:0002097)4.19750038
15* Recurrent cutaneous fungal infections (HP:0011370)4.16139136
16* Chronic mucocutaneous candidiasis (HP:0002728)4.16139136
17Mediastinal lymphadenopathy (HP:0100721)4.14823639
18Lymphopenia (HP:0001888)4.14210400
19IgM deficiency (HP:0002850)4.05992260
20Abnormality of cells of the lymphoid lineage (HP:0012140)4.02864944
21* Recurrent skin infections (HP:0001581)3.95087374
22* Meningitis (HP:0001287)3.95034865
23Recurrent pneumonia (HP:0006532)3.84183691
24Elevated erythrocyte sedimentation rate (HP:0003565)3.80020821
25Chronic sinusitis (HP:0011109)3.79662455
26Recurrent gram-negative bacterial infections (HP:0005420)3.75147027
27* Inflammation of the large intestine (HP:0002037)3.73593539
28Verrucae (HP:0200043)3.65006622
29Papilloma (HP:0012740)3.65006622
30Myositis (HP:0100614)3.47508288
31* Gastrointestinal inflammation (HP:0004386)3.46309913
32* Recurrent lower respiratory tract infections (HP:0002783)3.43586119
33Interstitial pulmonary disease (HP:0006530)3.41135166
34Osteomyelitis (HP:0002754)3.38695087
35Autoimmune thrombocytopenia (HP:0001973)3.33134954
36* Abnormal delayed hypersensitivity skin test (HP:0002963)3.31550814
37IgA deficiency (HP:0002720)3.29808207
38Increased IgE level (HP:0003212)3.20627388
39Restrictive lung disease (HP:0002091)3.19660560
40Gingivitis (HP:0000230)3.18008792
41Optic neuritis (HP:0100653)3.16670753
42Retrobulbar optic neuritis (HP:0100654)3.16670753
43Abnormality of macrophages (HP:0004311)3.02760312
44Periodontitis (HP:0000704)2.99518005
45Nasal polyposis (HP:0100582)2.99287554
46Pulmonary infiltrates (HP:0002113)2.98289499
47Obstructive lung disease (HP:0006536)2.98284412
48Chronic obstructive pulmonary disease (HP:0006510)2.98284412
49Pustule (HP:0200039)2.93730641
50Leukopenia (HP:0001882)2.93439090
51Keratoconjunctivitis (HP:0001096)2.93292357
52Stomatitis (HP:0010280)2.92409221
53Thrombocytosis (HP:0001894)2.92172341
54Orchitis (HP:0100796)2.87078812
55Prolonged bleeding time (HP:0003010)2.87036872
56Arterial thrombosis (HP:0004420)2.83864057
57Gastrointestinal infarctions (HP:0005244)2.80841733
58Bronchitis (HP:0012387)2.74665136
59Abnormality of the prostate (HP:0008775)2.67834047
60IgG deficiency (HP:0004315)2.67476805
61Myocardial infarction (HP:0001658)2.65285737
62Epistaxis (HP:0000421)2.65019304
63Chronic diarrhea (HP:0002028)2.60855622
64* Panhypogammaglobulinemia (HP:0003139)2.60804111
65Sepsis (HP:0100806)2.58798705
66Increased cerebral lipofuscin (HP:0011813)2.57460896
67Abnormality of the nasal mucosa (HP:0000433)2.57283257
68Abnormality of the fingertips (HP:0001211)2.56529136
69Skin ulcer (HP:0200042)2.51288797
70Abnormality of the pleura (HP:0002103)2.50175754
71Increased neuronal autofluorescent lipopigment (HP:0002074)2.47737176
72Arthralgia (HP:0002829)2.41806490
73Thyroiditis (HP:0100646)2.40712552
74Hypoplasia of the thymus (HP:0000778)2.38880252
75Chest pain (HP:0100749)2.36312312
76Autoimmune hemolytic anemia (HP:0001890)2.35203927
77Type 2 muscle fiber atrophy (HP:0003554)2.35191699
78Recurrent otitis media (HP:0000403)2.35148674
79Hematochezia (HP:0002573)2.32954080
80Abnormality of T cell number (HP:0011839)2.30533259
81Mitral stenosis (HP:0001718)2.30158814
82Pulmonary embolism (HP:0002204)2.27535660
83Keratoconjunctivitis sicca (HP:0001097)2.26863316
84Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.26115505
85Xerostomia (HP:0000217)2.25926406
86Hypergammaglobulinemia (HP:0010702)2.24389829
87Muscle fiber atrophy (HP:0100295)2.23629939
88* Encephalitis (HP:0002383)2.19975407
89Lymphoma (HP:0002665)2.16552355
90Gingival bleeding (HP:0000225)2.16347997
91Spontaneous hematomas (HP:0007420)2.12411837
92Eosinophilia (HP:0001880)2.12104405
93Abnormality of eosinophils (HP:0001879)2.10112558
94Malnutrition (HP:0004395)2.07844802
95Urticaria (HP:0001025)2.07836971
96Leukocytosis (HP:0001974)2.07654826
97Increased IgM level (HP:0003496)2.07158464
98Osteolytic defects of the hand bones (HP:0009699)2.06391432
99Osteolytic defects of the phalanges of the hand (HP:0009771)2.06391432
100Systemic lupus erythematosus (HP:0002725)2.04913364
101Skin rash (HP:0000988)2.04718627
102Stomach cancer (HP:0012126)2.04483105
103B lymphocytopenia (HP:0010976)2.03724173
104Abnormality of B cell number (HP:0010975)2.03724173
105T lymphocytopenia (HP:0005403)2.03211847
106Basal ganglia calcification (HP:0002135)2.01330879
107Abnormality of the peritoneum (HP:0002585)2.00582811
108Acrocyanosis (HP:0001063)1.99727847
109* Abnormality of T cells (HP:0002843)1.99471196
110Hemoptysis (HP:0002105)1.99234886
111Fatigue (HP:0012378)1.98983601
112Hypochromic anemia (HP:0001931)1.97353294
113Severe combined immunodeficiency (HP:0004430)1.95212165
114Gangrene (HP:0100758)1.90274791
115* Abnormality of T cell physiology (HP:0011840)1.90107618
116Cheilitis (HP:0100825)1.86198793
117Pulmonary fibrosis (HP:0002206)1.85441849
118Granulocytopenia (HP:0001913)1.84760317
119Premature loss of primary teeth (HP:0006323)1.84632522

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K15.78629174
2MAP3K144.50215846
3BLK3.65984128
4RIPK43.26259177
5MAP3K133.12733058
6TYK23.12702400
7IRAK42.58125376
8CSF1R2.54856416
9TAOK32.51665383
10KIT2.51473507
11TBK12.45725846
12JAK32.34851697
13JAK12.34682446
14SYK2.33765475
15IRAK32.31999652
16PRPF4B2.28586154
17IKBKB2.26552462
18BTK2.13716774
19TNK22.04234417
20IKBKE2.00877485
21ERN11.91467246
22GRK61.88223895
23STK101.76788182
24CHUK1.73456108
25LRRK21.68068116
26FGFR41.63516807
27CSK1.54095278
28MAP3K101.40082042
29MST41.39230858
30LYN1.37271281
31SIK21.31851579
32EPHB11.28954755
33HCK1.26393431
34FGFR31.24461043
35TEC1.22235852
36EPHA31.21855969
37FRK1.15976085
38ZAP701.14581662
39TAOK21.09822085
40CLK11.09437972
41ITK1.07328217
42MATK1.02315546
43PRKCQ1.00317157
44ACVR1B1.00070726
45LCK0.96795378
46MAPK120.95120458
47NEK90.94418314
48GRK10.93085143
49MARK20.93055189
50SIK30.90212924
51TGFBR20.88649249
52MARK30.88403769
53JAK20.88267705
54PIK3CG0.85607026
55RPS6KA40.82815895
56FES0.81791631
57CDK120.80452729
58PIM10.79253817
59CDK40.77416092
60MAP2K30.72744956
61NLK0.69989079
62MAP3K10.69325482
63FGR0.67546144
64PDK10.65328528
65MELK0.61234157
66ALK0.60350701
67ABL10.59035351
68BMPR20.58658508
69* CDC42BPA0.56183323
70TRPM70.54999607
71SGK20.53087480
72MAP3K110.51941643
73PRKCD0.51814296
74PTK2B0.50421435
75PRKCH0.48361012
76CDK60.47305079
77MAP3K80.46686610
78STK40.45735435
79GRK70.43304211
80HIPK20.41701676
81CAMKK10.41434748
82SIK10.41418060
83DAPK20.41177795
84TTN0.41131262
85SCYL20.40867379
86CAMK1G0.40517301
87EGFR0.40433439
88YES10.40426109
89EEF2K0.40410121
90MAPKAPK20.40313196
91IRAK10.39064797
92MAPK40.37855038
93BRD40.37453838
94PKN10.36808555
95CAMK1D0.36723528
96PRKAA20.36676061
97PTK60.36476924
98STK110.36275384
99MAP2K20.35404849
100TXK0.35373118
101MAPK110.34061151
102RPS6KC10.33744089
103RPS6KL10.33744089
104NUAK10.33178294
105ADRBK20.33001548
106DYRK1B0.32584179
107PDPK10.32520538
108PKN20.31905517
109* MAPK30.30998710
110SMG10.30703150
111RET0.30702715
112INSR0.29918392
113FYN0.28234075
114TRIB30.24595680
115MAP3K30.23178629
116MAP3K70.22398145
117STK240.21752797
118PRKD20.21668245
119SGK30.21541979
120TAOK10.20767170
121TLK10.20341706
122EIF2AK20.17697856
123PRKD10.17273451
124RPS6KA50.15494852
125CDK90.15000083
126MAP3K50.14162081
127RPS6KA60.14092739
128MAPK70.13327072
129SRC0.12736683
130BMX0.12538984

Predicted pathways (KEGG)

RankGene SetZ-score
1B cell receptor signaling pathway_Homo sapiens_hsa046624.36424593
2* Primary immunodeficiency_Homo sapiens_hsa053404.22898302
3NF-kappa B signaling pathway_Homo sapiens_hsa040643.39067281
4Intestinal immune network for IgA production_Homo sapiens_hsa046723.32616979
5Leishmaniasis_Homo sapiens_hsa051402.90843634
6Osteoclast differentiation_Homo sapiens_hsa043802.57242067
7* Antigen processing and presentation_Homo sapiens_hsa046122.53474556
8Toll-like receptor signaling pathway_Homo sapiens_hsa046202.36744206
9Graft-versus-host disease_Homo sapiens_hsa053322.21437682
10Hematopoietic cell lineage_Homo sapiens_hsa046402.19257618
11Allograft rejection_Homo sapiens_hsa053302.06891182
12Measles_Homo sapiens_hsa051622.03872437
13Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.99196335
14NOD-like receptor signaling pathway_Homo sapiens_hsa046211.95349324
15* Tuberculosis_Homo sapiens_hsa051521.88134419
16Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.87695575
17Herpes simplex infection_Homo sapiens_hsa051681.83553210
18Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.81609084
19Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.79475876
20RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.78329117
21Chemokine signaling pathway_Homo sapiens_hsa040621.77242614
22* Toxoplasmosis_Homo sapiens_hsa051451.68345296
23Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.67525601
24* Influenza A_Homo sapiens_hsa051641.62575490
25Pertussis_Homo sapiens_hsa051331.60919990
26T cell receptor signaling pathway_Homo sapiens_hsa046601.54439634
27Jak-STAT signaling pathway_Homo sapiens_hsa046301.47992765
28African trypanosomiasis_Homo sapiens_hsa051431.46971732
29Malaria_Homo sapiens_hsa051441.45586373
30Viral myocarditis_Homo sapiens_hsa054161.45086023
31Apoptosis_Homo sapiens_hsa042101.45061989
32TNF signaling pathway_Homo sapiens_hsa046681.43750747
33Shigellosis_Homo sapiens_hsa051311.35894991
34Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.33646963
35Legionellosis_Homo sapiens_hsa051341.28357405
36Staphylococcus aureus infection_Homo sapiens_hsa051501.24392894
37Autoimmune thyroid disease_Homo sapiens_hsa053201.23899242
38Leukocyte transendothelial migration_Homo sapiens_hsa046701.23681137
39Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.18943513
40Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.16095706
41Hepatitis B_Homo sapiens_hsa051611.15715908
42Epstein-Barr virus infection_Homo sapiens_hsa051691.11455596
43Acute myeloid leukemia_Homo sapiens_hsa052211.05899654
44Type I diabetes mellitus_Homo sapiens_hsa049401.03298003
45Salmonella infection_Homo sapiens_hsa051321.03009023
46Hepatitis C_Homo sapiens_hsa051601.02660710
47Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.98561619
48Pancreatic cancer_Homo sapiens_hsa052120.94852720
49Rheumatoid arthritis_Homo sapiens_hsa053230.94598601
50Systemic lupus erythematosus_Homo sapiens_hsa053220.92425510
51Neurotrophin signaling pathway_Homo sapiens_hsa047220.90053157
52AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.88626554
53Prolactin signaling pathway_Homo sapiens_hsa049170.82476445
54Chronic myeloid leukemia_Homo sapiens_hsa052200.82472696
55Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.80096747
56Platelet activation_Homo sapiens_hsa046110.79824668
57Carbohydrate digestion and absorption_Homo sapiens_hsa049730.79678560
58Lysosome_Homo sapiens_hsa041420.79030066
59Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.78136045
60Transcriptional misregulation in cancer_Homo sapiens_hsa052020.76165031
61Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.75497984
62Asthma_Homo sapiens_hsa053100.75258014
63Small cell lung cancer_Homo sapiens_hsa052220.72411314
64Viral carcinogenesis_Homo sapiens_hsa052030.71033389
65Non-small cell lung cancer_Homo sapiens_hsa052230.67740765
66VEGF signaling pathway_Homo sapiens_hsa043700.61125780
67alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.60027894
68HTLV-I infection_Homo sapiens_hsa051660.58157165
69Caffeine metabolism_Homo sapiens_hsa002320.56687897
70Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.54222372
71Glycosaminoglycan degradation_Homo sapiens_hsa005310.52568101
72MAPK signaling pathway_Homo sapiens_hsa040100.50979312
73Phagosome_Homo sapiens_hsa041450.50376966
74Base excision repair_Homo sapiens_hsa034100.49538783
75Linoleic acid metabolism_Homo sapiens_hsa005910.48002891
76GnRH signaling pathway_Homo sapiens_hsa049120.47570943
77Adipocytokine signaling pathway_Homo sapiens_hsa049200.47300475
78Glycerophospholipid metabolism_Homo sapiens_hsa005640.47257079
79Regulation of actin cytoskeleton_Homo sapiens_hsa048100.45773830
80Choline metabolism in cancer_Homo sapiens_hsa052310.44269357
81Other glycan degradation_Homo sapiens_hsa005110.43438748
82Tryptophan metabolism_Homo sapiens_hsa003800.42983574
83Insulin resistance_Homo sapiens_hsa049310.42770961
84Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.42585914
85Phosphatidylinositol signaling system_Homo sapiens_hsa040700.42306718
86Ether lipid metabolism_Homo sapiens_hsa005650.39729931
87FoxO signaling pathway_Homo sapiens_hsa040680.37393909
88Colorectal cancer_Homo sapiens_hsa052100.37046166
89Notch signaling pathway_Homo sapiens_hsa043300.34995577
90Sphingolipid signaling pathway_Homo sapiens_hsa040710.34804920
91Type II diabetes mellitus_Homo sapiens_hsa049300.34135841
92mTOR signaling pathway_Homo sapiens_hsa041500.31952326
93Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.31125576
94MicroRNAs in cancer_Homo sapiens_hsa052060.30804085
95Proteoglycans in cancer_Homo sapiens_hsa052050.30767930
96SNARE interactions in vesicular transport_Homo sapiens_hsa041300.30552395
97p53 signaling pathway_Homo sapiens_hsa041150.30068337
98Inositol phosphate metabolism_Homo sapiens_hsa005620.29553012
99Amoebiasis_Homo sapiens_hsa051460.29083410
100Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.28849013
101Dorso-ventral axis formation_Homo sapiens_hsa043200.27429972
102Arachidonic acid metabolism_Homo sapiens_hsa005900.26279827
103Prostate cancer_Homo sapiens_hsa052150.23947340
104Endocytosis_Homo sapiens_hsa041440.23847746
105Vascular smooth muscle contraction_Homo sapiens_hsa042700.23434714
106Pathways in cancer_Homo sapiens_hsa052000.22292883
107Glycerolipid metabolism_Homo sapiens_hsa005610.20366636
108Renin-angiotensin system_Homo sapiens_hsa046140.19674162
109ABC transporters_Homo sapiens_hsa020100.19458814
110Lysine degradation_Homo sapiens_hsa003100.19266561
111Complement and coagulation cascades_Homo sapiens_hsa046100.19092293
112HIF-1 signaling pathway_Homo sapiens_hsa040660.18861700
113Cholinergic synapse_Homo sapiens_hsa047250.17438853
114Thyroid hormone signaling pathway_Homo sapiens_hsa049190.17415315
115Estrogen signaling pathway_Homo sapiens_hsa049150.16416982
116Phospholipase D signaling pathway_Homo sapiens_hsa040720.16139404
117Adherens junction_Homo sapiens_hsa045200.16035518
118Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.14113737
119Renal cell carcinoma_Homo sapiens_hsa052110.13474272
120Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.12156293
121Phenylalanine metabolism_Homo sapiens_hsa003600.10124675

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »