TCIRG1

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: Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene are associated with infantile malignant osteopetrosis. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation by symbiont of host defense response (GO:0052509)6.54885615
2modulation by symbiont of host defense response (GO:0052031)6.54885615
3modulation by organism of immune response of other organism involved in symbiotic interaction (GO:006.54885615
4modulation by organism of defense response of other organism involved in symbiotic interaction (GO:06.54885615
5positive regulation by organism of defense response of other organism involved in symbiotic interact6.54885615
6modulation by symbiont of host immune response (GO:0052553)6.54885615
7neutrophil activation involved in immune response (GO:0002283)5.41014709
8regulation of interferon-beta biosynthetic process (GO:0045357)5.28024278
9macrophage activation involved in immune response (GO:0002281)5.01476434
10positive regulation of gamma-delta T cell activation (GO:0046645)4.97064558
11antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.96856833
12response to peptidoglycan (GO:0032494)4.88195721
13detection of other organism (GO:0098543)4.62339898
14detection of bacterium (GO:0016045)4.56169677
15positive regulation of interferon-alpha production (GO:0032727)4.54802282
16response to muramyl dipeptide (GO:0032495)4.52677034
17neutrophil mediated immunity (GO:0002446)4.44455777
18positive regulation of interleukin-8 biosynthetic process (GO:0045416)4.43237875
19response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.34581454
20response to host immune response (GO:0052572)4.34581454
21regulation of interferon-alpha production (GO:0032647)4.29708563
22natural killer cell mediated cytotoxicity (GO:0042267)4.16117868
23natural killer cell mediated immunity (GO:0002228)4.16117868
24immunoglobulin mediated immune response (GO:0016064)4.14802806
25positive regulation of B cell differentiation (GO:0045579)4.06994266
26respiratory burst (GO:0045730)3.97111839
27positive regulation of antigen processing and presentation (GO:0002579)3.95372214
28response to host (GO:0075136)3.94062478
29response to host defenses (GO:0052200)3.94062478
30response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.94062478
31detection of external biotic stimulus (GO:0098581)3.93887797
32regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.93154240
33microglial cell activation (GO:0001774)3.90033227
34myeloid cell activation involved in immune response (GO:0002275)3.84053756
35neutrophil activation (GO:0042119)3.81937412
36granulocyte activation (GO:0036230)3.76009595
37regulation of B cell receptor signaling pathway (GO:0050855)3.68190611
38antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.67095841
39antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.67095841
40negative regulation of erythrocyte differentiation (GO:0045647)3.63442062
41I-kappaB phosphorylation (GO:0007252)3.62381018
42positive regulation of cellular amide metabolic process (GO:0034250)3.60695077
43pinocytosis (GO:0006907)3.54121974
44positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.51748791
45negative regulation of lymphocyte mediated immunity (GO:0002707)3.49196018
46macrophage activation (GO:0042116)3.48082482
47negative regulation of cell killing (GO:0031342)3.46683320
48negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.46683320
49detection of biotic stimulus (GO:0009595)3.44709341
50positive regulation of interferon-beta production (GO:0032728)3.36075696
51antigen processing and presentation of endogenous antigen (GO:0019883)3.34263517
52myeloid leukocyte mediated immunity (GO:0002444)3.33279746
53regulation of gamma-delta T cell activation (GO:0046643)3.32432294
54regulation of antigen processing and presentation (GO:0002577)3.32078859
55defense response to protozoan (GO:0042832)3.31246482
56negative regulation of leukocyte mediated immunity (GO:0002704)3.29599867
57leukocyte mediated cytotoxicity (GO:0001909)3.24887655
58germinal center formation (GO:0002467)3.23895066
59NIK/NF-kappaB signaling (GO:0038061)3.20186122
60regulation of interleukin-8 biosynthetic process (GO:0045414)3.19252102
61regulation of mast cell degranulation (GO:0043304)3.19133401
62regulation of T cell tolerance induction (GO:0002664)3.17492539
63negative regulation of granulocyte differentiation (GO:0030853)3.17095188
64antigen processing and presentation via MHC class Ib (GO:0002475)3.14069686
65lipopolysaccharide-mediated signaling pathway (GO:0031663)3.12129608
66response to type I interferon (GO:0034340)3.10555775
67cellular response to type I interferon (GO:0071357)3.09624675
68type I interferon signaling pathway (GO:0060337)3.09624675
69leukocyte migration involved in inflammatory response (GO:0002523)3.08889690
70positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.07873429
71negative regulation of interleukin-12 production (GO:0032695)3.07528849
72negative regulation of T cell mediated immunity (GO:0002710)3.07511706
73regulation of interleukin-12 biosynthetic process (GO:0045075)3.06215156
74B cell receptor signaling pathway (GO:0050853)3.05690735
75regulation of mast cell activation involved in immune response (GO:0033006)3.02648902
76negative regulation of cytokine production involved in immune response (GO:0002719)3.02643644
77regulation of tolerance induction (GO:0002643)3.01375567
78positive thymic T cell selection (GO:0045059)2.98859686
79regulation of B cell differentiation (GO:0045577)2.98359554
80detection of molecule of bacterial origin (GO:0032490)2.97885591
81mannose metabolic process (GO:0006013)2.97741349
82response to interleukin-15 (GO:0070672)2.96330917
83negative regulation of innate immune response (GO:0045824)2.96137468
84regulation of T-helper 2 cell differentiation (GO:0045628)2.94133223
85apoptotic cell clearance (GO:0043277)2.93941418
86regulation of mast cell activation (GO:0033003)2.93361638
87regulation of gamma-delta T cell differentiation (GO:0045586)2.92594359
88response to protozoan (GO:0001562)2.90089186
89regulation of dendritic cell antigen processing and presentation (GO:0002604)2.88453587
90negative regulation of interleukin-17 production (GO:0032700)2.87040278
91negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.85503000
92positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.85442120
93negative regulation of lipid storage (GO:0010888)2.85374808
94B cell homeostasis (GO:0001782)2.85178869
95T cell migration (GO:0072678)2.85072870
96B cell mediated immunity (GO:0019724)2.82873904
97interferon-gamma-mediated signaling pathway (GO:0060333)2.82247059
98modulation by symbiont of host cellular process (GO:0044068)2.81972411
99response to interferon-alpha (GO:0035455)2.81926523
100myeloid dendritic cell differentiation (GO:0043011)2.81119414
101negative thymic T cell selection (GO:0045060)2.80724888
102myeloid leukocyte activation (GO:0002274)2.80585003
103leukocyte aggregation (GO:0070486)2.80562758
104regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.79290405
105production of molecular mediator involved in inflammatory response (GO:0002532)2.77641950
106negative regulation of interleukin-6 production (GO:0032715)2.77208136
107tolerance induction (GO:0002507)2.76650944
108positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.74279818
109positive regulation of heat generation (GO:0031652)2.73332838
110regulation of leukocyte degranulation (GO:0043300)2.73085765
111regulation of T cell mediated cytotoxicity (GO:0001914)2.72380633
112response to fungus (GO:0009620)2.72190557
113regulation of natural killer cell mediated immunity (GO:0002715)2.71621465
114regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.71621465
115positive regulation of mast cell activation involved in immune response (GO:0033008)2.70343264
116positive regulation of mast cell degranulation (GO:0043306)2.70343264
117regulation of regulated secretory pathway (GO:1903305)2.69203988
118regulation of integrin activation (GO:0033623)2.68126580
119positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.67070923
120positive regulation of mast cell activation (GO:0033005)2.66959838
121positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.66938186
122regulation of myeloid leukocyte mediated immunity (GO:0002886)2.66694168
123T-helper 1 type immune response (GO:0042088)2.66069743
124regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.65694011
125hydrogen peroxide biosynthetic process (GO:0050665)2.64314529
126myeloid dendritic cell activation (GO:0001773)2.63951792
127positive regulation of toll-like receptor signaling pathway (GO:0034123)2.63826276
128positive regulation of interleukin-1 beta secretion (GO:0050718)2.63495272
129adaptive immune response based on somatic recombination of immune receptors built from immunoglobuli2.63212521
130superoxide anion generation (GO:0042554)2.63111642
131cellular extravasation (GO:0045123)2.62519154
132regulation of cholesterol storage (GO:0010885)2.59950661
133leukocyte degranulation (GO:0043299)2.59307174
134regulation of interferon-beta production (GO:0032648)2.58916685

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.87808347
2IRF8_21731497_ChIP-ChIP_J774_Mouse5.81141019
3BP1_19119308_ChIP-ChIP_Hs578T_Human4.64673268
4* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse4.26047819
5IRF8_27001747_Chip-Seq_BMDM_Mouse4.20977412
6Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse3.67322920
7* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.64233910
8MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.60063306
9IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.20801122
10IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.20212785
11MYB_21317192_ChIP-Seq_ERMYB_Mouse3.18159266
12STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.91419527
13EGR1_19374776_ChIP-ChIP_THP-1_Human2.85866012
14SCL_19346495_ChIP-Seq_HPC-7_Human2.75303003
15FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.63184949
16VDR_21846776_ChIP-Seq_THP-1_Human2.54527949
17* BRD4_27068464_Chip-Seq_AML-cells_Mouse2.47271220
18NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.43055022
19* SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.41922401
20NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.31731761
21* SPI1_23547873_ChIP-Seq_NB4_Human2.30755808
22* SPI1_23127762_ChIP-Seq_K562_Human2.27427961
23STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.25629320
24RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.23309153
25* VDR_24763502_ChIP-Seq_THP-1_Human2.19992277
26E2F7_22180533_ChIP-Seq_HELA_Human2.19391443
27PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse2.04901726
28STAT4_19710469_ChIP-ChIP_TH1__Mouse2.00289345
29VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.95465928
30RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.91752436
31* RUNX1_22412390_ChIP-Seq_EML_Mouse1.89728255
32PU_27001747_Chip-Seq_BMDM_Mouse1.83131060
33ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.81667647
34* MAF_26560356_Chip-Seq_TH1_Human1.77344829
35CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.72835963
36MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.70366437
37MYB_26560356_Chip-Seq_TH2_Human1.67811551
38* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.66624625
39SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.65188026
40FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.64186350
41GATA1_22025678_ChIP-Seq_K562_Human1.61284388
42VDR_24787735_ChIP-Seq_THP-1_Human1.61151781
43* MYB_26560356_Chip-Seq_TH1_Human1.58996987
44RUNX_20019798_ChIP-Seq_JUKART_Human1.58320841
45PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.54087487
46TCF7_22412390_ChIP-Seq_EML_Mouse1.51563613
47TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.48977287
48GATA2_21666600_ChIP-Seq_HMVEC_Human1.48699117
49* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.45257339
50NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.44173958
51MYC_22102868_ChIP-Seq_BL_Human1.43597629
52FOXM1_23109430_ChIP-Seq_U2OS_Human1.43327252
53STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.41105377
54UTX_26944678_Chip-Seq_JUKART_Human1.37880073
55STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.37048858
56STAT6_21828071_ChIP-Seq_BEAS2B_Human1.36592997
57FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.35648764
58* RARG_19884340_ChIP-ChIP_MEFs_Mouse1.35499328
59GATA2_22383799_ChIP-Seq_G1ME_Mouse1.35093652
60THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.34174397
61* ELK3_25401928_ChIP-Seq_HUVEC_Human1.31349168
62* RACK7_27058665_Chip-Seq_MCF-7_Human1.30477151
63BCL6_27268052_Chip-Seq_Bcells_Human1.29809117
64TFEB_21752829_ChIP-Seq_HELA_Human1.28585772
65CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.26040542
66BCOR_27268052_Chip-Seq_Bcells_Human1.25448286
67KDM2B_26808549_Chip-Seq_JURKAT_Human1.25244253
68SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.22994573
69SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.20370752
70CTCF_27219007_Chip-Seq_ERYTHROID_Human1.20271010
71GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.19732005
72LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.19415133
73* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.18274572
74GATA1_22383799_ChIP-Seq_G1ME_Mouse1.17625905
75* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.16903896
76GATA1_19941827_ChIP-Seq_MEL_Mouse1.16353359
77* PU.1_20513432_ChIP-Seq_Bcells_Mouse1.12762733
78* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.11753677
79PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.11338228
80IKZF1_21737484_ChIP-ChIP_HCT116_Human1.10781837
81* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.10658814
82NCOR1_26117541_ChIP-Seq_K562_Human1.10583737
83TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.09989937
84* SA1_27219007_Chip-Seq_ERYTHROID_Human1.09720517
85GATA3_27048872_Chip-Seq_THYMUS_Human1.07019263
86ELF1_20517297_ChIP-Seq_JURKAT_Human1.06337138
87* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.06074926
88P68_20966046_ChIP-Seq_HELA_Human1.05626287
89* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.04311844
90KDM2B_26808549_Chip-Seq_K562_Human1.04042423
91SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.02669923
92KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.02396321
93LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.01844387
94MAF_26560356_Chip-Seq_TH2_Human1.01360256
95GATA3_26560356_Chip-Seq_TH2_Human1.00606308
96SMAD_19615063_ChIP-ChIP_OVARY_Human0.99093039
97KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.99037794
98TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.97504744
99TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.96846486
100ESR1_21235772_ChIP-Seq_MCF-7_Human0.96090462
101KDM2B_26808549_Chip-Seq_DND41_Human0.96051268
102GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.90845781
103SMC4_20622854_ChIP-Seq_HELA_Human0.89361797
104VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.89212843
105TP63_17297297_ChIP-ChIP_HaCaT_Human0.87617286
106GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.87138754
107GATA2_19941826_ChIP-Seq_K562_Human0.84854685
108SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.84761514
109GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84257396
110PPARA_22158963_ChIP-Seq_LIVER_Mouse0.81313194
111GATA1_19941826_ChIP-Seq_K562_Human0.79989241
112LXR_22158963_ChIP-Seq_LIVER_Mouse0.79655265
113* LXR_22292898_ChIP-Seq_THP-1_Human0.78271761
114KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.76292817
115TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.76241717
116ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.75596595
117SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.75239000
118SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.75239000
119FOXO3_23340844_ChIP-Seq_DLD1_Human0.74824230
120SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.74353495
121FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.73229877
122RXR_22158963_ChIP-Seq_LIVER_Mouse0.72850346

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation5.29586034
2MP0005058_abnormal_lysosome_morphology4.02337393
3MP0001835_abnormal_antigen_presentation3.71358024
4MP0003172_abnormal_lysosome_physiology3.58373061
5MP0003303_peritoneal_inflammation3.14615222
6MP0003436_decreased_susceptibility_to3.07550833
7* MP0002419_abnormal_innate_immunity2.90434749
8MP0005174_abnormal_tail_pigmentation2.67523960
9MP0006082_CNS_inflammation2.63724443
10MP0009785_altered_susceptibility_to2.47975209
11MP0005025_abnormal_response_to2.46141293
12MP0005000_abnormal_immune_tolerance2.42959147
13MP0005464_abnormal_platelet_physiology2.39511421
14* MP0002452_abnormal_antigen_presenting2.37305005
15MP0009278_abnormal_bone_marrow2.36196062
16MP0000685_abnormal_immune_system2.33811890
17* MP0001800_abnormal_humoral_immune2.27882637
18MP0004510_myositis2.22421133
19* MP0005387_immune_system_phenotype2.18694363
20* MP0001790_abnormal_immune_system2.18694363
21MP0009840_abnormal_foam_cell2.17280600
22* MP0002723_abnormal_immune_serum2.16667451
23MP0000015_abnormal_ear_pigmentation2.08383728
24MP0002148_abnormal_hypersensitivity_rea2.08034373
25* MP0001819_abnormal_immune_cell1.99403027
26* MP0002420_abnormal_adaptive_immunity1.97351446
27MP0005671_abnormal_response_to1.92071757
28MP0003300_gastrointestinal_ulcer1.92047225
29MP0003191_abnormal_cellular_cholesterol1.88486468
30MP0004947_skin_inflammation1.88280419
31MP0003183_abnormal_peptide_metabolism1.88099101
32MP0005451_abnormal_body_composition1.79709458
33MP0002166_altered_tumor_susceptibility1.73641199
34MP0002405_respiratory_system_inflammati1.71329461
35MP0003724_increased_susceptibility_to1.70619470
36MP0001533_abnormal_skeleton_physiology1.68739982
37MP0005397_hematopoietic_system_phenotyp1.59175900
38MP0001545_abnormal_hematopoietic_system1.59175900
39MP0010307_abnormal_tumor_latency1.57800933
40MP0001845_abnormal_inflammatory_respons1.53987339
41MP0000371_diluted_coat_color1.50740111
42MP0003448_altered_tumor_morphology1.50576258
43* MP0000716_abnormal_immune_system1.49520015
44MP0002396_abnormal_hematopoietic_system1.48571123
45MP0001853_heart_inflammation1.48545927
46MP0008469_abnormal_protein_level1.46797199
47MP0005257_abnormal_intraocular_pressure1.46175102
48* MP0002398_abnormal_bone_marrow1.45565725
49MP0002006_tumorigenesis1.43598444
50* MP0000689_abnormal_spleen_morphology1.43564102
51MP0000604_amyloidosis1.37131230
52MP0010155_abnormal_intestine_physiology1.33641922
53MP0003566_abnormal_cell_adhesion1.32958221
54MP0008260_abnormal_autophagy1.32580948
55MP0001873_stomach_inflammation1.32051827
56MP0000858_altered_metastatic_potential1.30724096
57MP0003866_abnormal_defecation1.28981813
58MP0003690_abnormal_glial_cell1.26054259
59MP0001958_emphysema1.25895141
60* MP0002722_abnormal_immune_system1.23688821
61* MP0002429_abnormal_blood_cell1.23254866
62MP0000465_gastrointestinal_hemorrhage1.22287517
63MP0000343_altered_response_to1.17783899
64MP0004883_abnormal_blood_vessel1.17338445
65MP0002132_abnormal_respiratory_system1.17320635
66MP0004808_abnormal_hematopoietic_stem1.16873720
67MP0009764_decreased_sensitivity_to1.13405485
68MP0003075_altered_response_to1.13046951
69MP0001851_eye_inflammation1.12539502
70* MP0002998_abnormal_bone_remodeling1.11625560
71MP0009333_abnormal_splenocyte_physiolog1.11073897
72MP0003806_abnormal_nucleotide_metabolis1.09655392
73MP0002933_joint_inflammation1.08994475
74MP0005075_abnormal_melanosome_morpholog1.08120683
75MP0005164_abnormal_response_to1.04573791
76MP0008004_abnormal_stomach_pH1.02605718
77MP0005076_abnormal_cell_differentiation0.99033882
78MP0009763_increased_sensitivity_to0.95859512
79MP0005083_abnormal_biliary_tract0.95305317
80MP0002138_abnormal_hepatobiliary_system0.95298803
81MP0005310_abnormal_salivary_gland0.94295946
82MP0001663_abnormal_digestive_system0.91239881
83MP0008438_abnormal_cutaneous_collagen0.90307455
84MP0003091_abnormal_cell_migration0.88143797
85MP0003279_aneurysm0.86629667
86MP0003656_abnormal_erythrocyte_physiolo0.86211858
87MP0000490_abnormal_crypts_of0.85441595
88MP0005166_decreased_susceptibility_to0.84815371
89MP0005167_abnormal_blood-brain_barrier0.82575182
90MP0005023_abnormal_wound_healing0.81050613
91MP0004381_abnormal_hair_follicle0.80282396
92MP0005390_skeleton_phenotype0.79233066
93MP0001849_ear_inflammation0.77339487
94MP0002095_abnormal_skin_pigmentation0.74570953
95MP0002277_abnormal_respiratory_mucosa0.73897511
96MP0003453_abnormal_keratinocyte_physiol0.72559813
97MP0002139_abnormal_hepatobiliary_system0.72011218
98MP0003828_pulmonary_edema0.72010525
99MP0003763_abnormal_thymus_physiology0.71825368
100* MP0000703_abnormal_thymus_morphology0.71739824
101MP0000249_abnormal_blood_vessel0.71451228
102MP0000767_abnormal_smooth_muscle0.70208495
103MP0003045_fibrosis0.68145484
104MP0003705_abnormal_hypodermis_morpholog0.67472248
105MP0008874_decreased_physiological_sensi0.66966937
106MP0003329_amyloid_beta_deposits0.66487925
107MP0002254_reproductive_system_inflammat0.65674515
108MP0000609_abnormal_liver_physiology0.63283087
109MP0005197_abnormal_uvea_morphology0.62888491
110MP0002075_abnormal_coat/hair_pigmentati0.62378121
111MP0001915_intracranial_hemorrhage0.60977775
112MP0004858_abnormal_nervous_system0.60544218
113* MP0003795_abnormal_bone_structure0.59103956
114MP0005621_abnormal_cell_physiology0.58711024
115MP0001243_abnormal_dermal_layer0.58613133
116MP0002928_abnormal_bile_duct0.58175116
117MP0009765_abnormal_xenobiotic_induced0.58167067
118MP0005319_abnormal_enzyme/_coenzyme0.57673772
119MP0002136_abnormal_kidney_physiology0.57576734
120MP0000920_abnormal_myelination0.56556431

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)6.79884290
2Recurrent bacterial skin infections (HP:0005406)6.35038596
3Eczematoid dermatitis (HP:0000976)5.47230798
4Increased cerebral lipofuscin (HP:0011813)4.90080501
5Vacuolated lymphocytes (HP:0001922)4.77752521
6Recurrent gram-negative bacterial infections (HP:0005420)4.66929762
7Abnormality of macrophages (HP:0004311)4.52601239
8Increased neuronal autofluorescent lipopigment (HP:0002074)4.16528219
9Recurrent skin infections (HP:0001581)4.01381907
10Gingivitis (HP:0000230)3.92108171
11Autoimmune thrombocytopenia (HP:0001973)3.91049742
12Abnormality of liposaccharide metabolism (HP:0010968)3.90673859
13Abnormality of glycosphingolipid metabolism (HP:0004343)3.90673859
14Abnormality of glycolipid metabolism (HP:0010969)3.90673859
15Elevated erythrocyte sedimentation rate (HP:0003565)3.83254449
16Mediastinal lymphadenopathy (HP:0100721)3.75763094
17Periodontitis (HP:0000704)3.75725016
18Recurrent fungal infections (HP:0002841)3.64926925
19Myositis (HP:0100614)3.60549791
20Systemic lupus erythematosus (HP:0002725)3.56172150
21Dysostosis multiplex (HP:0000943)3.40380894
22Axonal loss (HP:0003447)3.37694484
23Stomatitis (HP:0010280)3.29776781
24Gastrointestinal infarctions (HP:0005244)3.28653501
25Recurrent viral infections (HP:0004429)3.21689555
26Abnormal delayed hypersensitivity skin test (HP:0002963)3.14255804
27Orchitis (HP:0100796)3.08933622
28Chronic obstructive pulmonary disease (HP:0006510)3.08296928
29Obstructive lung disease (HP:0006536)3.08296928
30Abnormality of mucopolysaccharide metabolism (HP:0011020)3.01404266
31Abnormality of polysaccharide metabolism (HP:0011012)3.01404266
32Abnormality of glycosaminoglycan metabolism (HP:0004371)3.01404266
33Disinhibition (HP:0000734)2.90647267
34Cellulitis (HP:0100658)2.90137050
35Encephalitis (HP:0002383)2.89390473
36Glomerulonephritis (HP:0000099)2.87411472
37Pustule (HP:0200039)2.85880552
38Mucopolysacchariduria (HP:0008155)2.85676011
39Urinary glycosaminoglycan excretion (HP:0003541)2.85676011
40Vasculitis (HP:0002633)2.82880797
41Retrobulbar optic neuritis (HP:0100654)2.82855563
42Optic neuritis (HP:0100653)2.82855563
43Keratoconjunctivitis sicca (HP:0001097)2.81708924
44Prostate neoplasm (HP:0100787)2.80816041
45Chronic mucocutaneous candidiasis (HP:0002728)2.80529499
46Recurrent cutaneous fungal infections (HP:0011370)2.80529499
47Gingival bleeding (HP:0000225)2.74651273
48Loss of speech (HP:0002371)2.73610202
49Thick nail (HP:0001805)2.70952353
50Myocardial infarction (HP:0001658)2.64527401
51Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.60309388
52Colitis (HP:0002583)2.59699501
53Petechiae (HP:0000967)2.58257406
54Purpura (HP:0000979)2.58050748
55Keratoconjunctivitis (HP:0001096)2.57434845
56Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.56926475
57Thoracic kyphosis (HP:0002942)2.54141071
58Chest pain (HP:0100749)2.52949811
59Malnutrition (HP:0004395)2.50646271
60Hematochezia (HP:0002573)2.49745617
61Meningitis (HP:0001287)2.45503151
62Basal ganglia calcification (HP:0002135)2.44532047
63Increased serum ferritin (HP:0003281)2.43437841
64Gastrointestinal stroma tumor (HP:0100723)2.43163797
65Chronic otitis media (HP:0000389)2.43044614
66T lymphocytopenia (HP:0005403)2.38370580
67Leukocytosis (HP:0001974)2.38143954
68Hepatosplenomegaly (HP:0001433)2.37878607
69Inflammation of the large intestine (HP:0002037)2.35623093
70Joint hemorrhage (HP:0005261)2.31858556
71Panhypogammaglobulinemia (HP:0003139)2.29565301
72Epistaxis (HP:0000421)2.28592351
73* Osteomyelitis (HP:0002754)2.26340276
74Abnormality of the thoracic spine (HP:0100711)2.26038642
75Osteolytic defects of the phalanges of the hand (HP:0009771)2.24876755
76Osteolytic defects of the hand bones (HP:0009699)2.24876755
77Urticaria (HP:0001025)2.23456543
78Abnormality of T cell number (HP:0011839)2.22504756
79Interstitial pulmonary disease (HP:0006530)2.22402169
80Impaired platelet aggregation (HP:0003540)2.22296794
81Abnormal platelet function (HP:0011869)2.22296794
82Amyloidosis (HP:0011034)2.22044524
83Pulmonary embolism (HP:0002204)2.21272931
84Gastrointestinal inflammation (HP:0004386)2.20017381
85Pulmonary infiltrates (HP:0002113)2.19250218
86Recurrent pneumonia (HP:0006532)2.18986376
87Albinism (HP:0001022)2.18139350
88Episodic fever (HP:0001954)2.16773751
89Increased IgM level (HP:0003496)2.16755930
90Agnosia (HP:0010524)2.15799005
91Prolonged bleeding time (HP:0003010)2.15437986
92Hypergammaglobulinemia (HP:0010702)2.13934586
93Lymphopenia (HP:0001888)2.13740524
94Arterial thrombosis (HP:0004420)2.13360368
95Upper motor neuron abnormality (HP:0002127)2.10831553
96Anorexia (HP:0002039)2.08649898
97Absent frontal sinuses (HP:0002688)2.08498609
98Nephritis (HP:0000123)2.08375378
99Eosinophilia (HP:0001880)2.06830965
100Peritonitis (HP:0002586)2.06575527
101Abnormality of iron homeostasis (HP:0011031)2.06527367
102J-shaped sella turcica (HP:0002680)2.05967762
103Abnormality of the nasal mucosa (HP:0000433)2.05573590
104Abnormality of the fingertips (HP:0001211)2.05304444
105Abnormality of T cells (HP:0002843)2.05227243
106Hypochromic anemia (HP:0001931)2.05077948
107Emphysema (HP:0002097)2.04501644
108Agammaglobulinemia (HP:0004432)2.01299434
109Hemoptysis (HP:0002105)2.00248213
110Restrictive lung disease (HP:0002091)1.99980111
111Abnormality of cells of the lymphoid lineage (HP:0012140)1.98975609
112Sepsis (HP:0100806)1.98499227
113Abnormality of the pleura (HP:0002103)1.98072900
114Spontaneous hematomas (HP:0007420)1.94911331
115Glomerulopathy (HP:0100820)1.92701744
116Abnormality of the prostate (HP:0008775)1.88638604
117Peripheral demyelination (HP:0011096)1.86903728
118Cerebral aneurysm (HP:0004944)1.86495865
119Abnormality of the peritoneum (HP:0002585)1.85841341
120Frequent falls (HP:0002359)1.85207676
121Urethral obstruction (HP:0000796)1.84170730
122Recurrent lower respiratory tract infections (HP:0002783)1.83030994
123Acne (HP:0001061)1.82811549
124Nasal polyposis (HP:0100582)1.82732192
125Cheilitis (HP:0100825)1.82357739
126Slow saccadic eye movements (HP:0000514)1.81286526
127* Bone pain (HP:0002653)1.80917116
128Deformed sella turcica (HP:0002681)1.79842995
129IgM deficiency (HP:0002850)1.78214002
130Skin ulcer (HP:0200042)1.77922437
131Leukopenia (HP:0001882)1.77112464
132Granulocytopenia (HP:0001913)1.76984246
133Increased IgE level (HP:0003212)1.76164030
134Abnormality of the vasculature of the conjunctiva (HP:0008054)1.76089102

Predicted kinase interactions (KEA)

RankGene SetZ-score
1KIT3.47419774
2RIPK43.41745587
3IRAK33.37875796
4TYK23.28928136
5MAP3K143.26719687
6IRAK43.20739205
7MAP4K13.00121893
8TBK12.96028019
9PRPF4B2.73514391
10BLK2.64755578
11IKBKE2.48102264
12TAOK32.43373684
13ERN12.40567088
14TNK22.04661439
15CSF1R2.01911509
16JAK32.01065198
17MAP3K131.96954568
18JAK11.96279096
19SIK21.95091423
20IKBKB1.92655909
21TGFBR21.87666313
22CAMK1D1.81664657
23TTN1.78900629
24FES1.78117495
25MAP3K111.74504744
26HCK1.68359592
27TAOK11.66767666
28ZAP701.60292886
29CAMK1G1.57183714
30EPHB11.54513049
31SYK1.43696804
32BTK1.41489527
33CSK1.38605387
34SIK31.36933344
35TXK1.33757222
36PTK61.26552377
37TAOK21.25930255
38MAP2K31.24345561
39CDC42BPA1.24313946
40CDK121.23040571
41LCK1.20186394
42CHUK1.19319304
43MAP3K11.18473215
44TRPM71.13771797
45SMG11.09860942
46CLK11.08578778
47MAP3K101.08495430
48LYN1.08041348
49PRKD21.07880311
50NEK91.07087151
51TEC1.04231563
52MARK21.04231437
53RPS6KA41.03618942
54STK101.03527437
55TESK21.02375280
56FGR1.00172304
57NME20.97869375
58CDK60.95401816
59JAK20.94563083
60STK40.93740289
61TRIB30.91384798
62MAP3K60.88427927
63PIM10.86407232
64RIPK10.85371018
65KSR20.83302659
66MARK30.81285987
67FGFR40.77696091
68PKN20.77647921
69PIM20.76322373
70NEK20.75260069
71MATK0.72188260
72PAK40.71880413
73ITK0.69985912
74MAP3K70.68750010
75ABL10.68454392
76GRK70.68225166
77IRAK10.67855172
78IRAK20.67698515
79BRD40.67483801
80EGFR0.66986388
81HIPK20.65961695
82DAPK20.65083330
83YES10.60425434
84RPS6KA60.59292892
85EIF2AK20.56467641
86PBK0.56117200
87BMPR20.55742300
88DDR20.55164551
89MAP2K60.55158124
90BMX0.53064455
91PRKG20.50396812
92SIK10.50354533
93MAP3K30.48265006
94RPS6KL10.47263836
95RPS6KC10.47263836
96GRK60.46806201
97ICK0.46705390
98RPS6KA20.45792944
99MOS0.44077922
100CAMKK20.43726075
101DYRK1B0.41871879
102MAP2K20.41295355
103PDGFRB0.41003976
104FLT30.40678955
105PRKCD0.38885257
106PDPK10.38480108
107MAPK120.38215213
108PRKCQ0.37801794
109STK30.37056023
110FYN0.36701330
111CDK40.35947185
112CAMKK10.35682751
113MAP3K80.35170330
114FGFR30.35103050
115PTK2B0.34833842
116SCYL20.34548572
117LRRK20.34076319
118PDK10.34027281
119MTOR0.33559874
120RET0.33107380
121MAPKAPK20.32417801
122DAPK30.32291036
123PIK3CG0.32109271
124SGK30.32008739
125MAPK70.31987661
126EPHA30.31929550
127MAP3K50.31766783
128SRC0.28712499
129ATR0.27877571
130MAPK110.27819800
131ABL20.26587081
132PKN10.26060982
133MAPK40.24126063

Predicted pathways (KEGG)

RankGene SetZ-score
1Leishmaniasis_Homo sapiens_hsa051403.04842699
2Staphylococcus aureus infection_Homo sapiens_hsa051502.96981863
3Glycosaminoglycan degradation_Homo sapiens_hsa005312.84793667
4Osteoclast differentiation_Homo sapiens_hsa043802.69665276
5Toll-like receptor signaling pathway_Homo sapiens_hsa046202.54544262
6Other glycan degradation_Homo sapiens_hsa005112.54242651
7NF-kappa B signaling pathway_Homo sapiens_hsa040642.49142662
8* Lysosome_Homo sapiens_hsa041422.44388974
9B cell receptor signaling pathway_Homo sapiens_hsa046622.36867560
10Autoimmune thyroid disease_Homo sapiens_hsa053202.21363084
11Caffeine metabolism_Homo sapiens_hsa002322.16591273
12Pertussis_Homo sapiens_hsa051332.12369320
13Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.12051690
14NOD-like receptor signaling pathway_Homo sapiens_hsa046212.11542504
15Malaria_Homo sapiens_hsa051442.08566130
16Measles_Homo sapiens_hsa051622.05652376
17* Tuberculosis_Homo sapiens_hsa051522.00111757
18RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.97556250
19Influenza A_Homo sapiens_hsa051641.82236065
20Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.82023158
21Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.80247072
22Legionellosis_Homo sapiens_hsa051341.72248419
23TNF signaling pathway_Homo sapiens_hsa046681.58587360
24Toxoplasmosis_Homo sapiens_hsa051451.56628681
25Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.53480908
26Apoptosis_Homo sapiens_hsa042101.51802319
27* Phagosome_Homo sapiens_hsa041451.48768517
28Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.46182128
29Hematopoietic cell lineage_Homo sapiens_hsa046401.44765603
30Intestinal immune network for IgA production_Homo sapiens_hsa046721.42661771
31Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.41408142
32Herpes simplex infection_Homo sapiens_hsa051681.36896689
33Antigen processing and presentation_Homo sapiens_hsa046121.32687651
34Shigellosis_Homo sapiens_hsa051311.28502523
35* Rheumatoid arthritis_Homo sapiens_hsa053231.27827768
36Salmonella infection_Homo sapiens_hsa051321.27452590
37Graft-versus-host disease_Homo sapiens_hsa053321.25644657
38Primary immunodeficiency_Homo sapiens_hsa053401.25612184
39Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.25293165
40Chemokine signaling pathway_Homo sapiens_hsa040621.21159945
41Hepatitis C_Homo sapiens_hsa051601.20650019
42Jak-STAT signaling pathway_Homo sapiens_hsa046301.18404347
43Hepatitis B_Homo sapiens_hsa051611.16852729
44Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.16807874
45Chronic myeloid leukemia_Homo sapiens_hsa052201.16705399
46Allograft rejection_Homo sapiens_hsa053301.12701713
47Acute myeloid leukemia_Homo sapiens_hsa052211.10959401
48Complement and coagulation cascades_Homo sapiens_hsa046101.08153597
49Leukocyte transendothelial migration_Homo sapiens_hsa046701.06391093
50Asthma_Homo sapiens_hsa053101.01932254
51Pancreatic cancer_Homo sapiens_hsa052120.91682638
52African trypanosomiasis_Homo sapiens_hsa051430.91177681
53T cell receptor signaling pathway_Homo sapiens_hsa046600.90976618
54AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.90598144
55Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.90142567
56Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.87935850
57Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.86358432
58Platelet activation_Homo sapiens_hsa046110.80744543
59Small cell lung cancer_Homo sapiens_hsa052220.78812589
60Amoebiasis_Homo sapiens_hsa051460.77693430
61ABC transporters_Homo sapiens_hsa020100.75628416
62Viral myocarditis_Homo sapiens_hsa054160.75139919
63Neurotrophin signaling pathway_Homo sapiens_hsa047220.73207279
64Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.72875360
65Lysine degradation_Homo sapiens_hsa003100.67952186
66Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.66402945
67Epstein-Barr virus infection_Homo sapiens_hsa051690.65456961
68Bladder cancer_Homo sapiens_hsa052190.65152391
69Carbohydrate digestion and absorption_Homo sapiens_hsa049730.63635980
70Type II diabetes mellitus_Homo sapiens_hsa049300.62232282
71Renal cell carcinoma_Homo sapiens_hsa052110.61799386
72Transcriptional misregulation in cancer_Homo sapiens_hsa052020.61677853
73Sphingolipid metabolism_Homo sapiens_hsa006000.61378557
74Pentose and glucuronate interconversions_Homo sapiens_hsa000400.61328394
75GnRH signaling pathway_Homo sapiens_hsa049120.60023589
76Notch signaling pathway_Homo sapiens_hsa043300.58608687
77Prion diseases_Homo sapiens_hsa050200.52970496
78* Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.52781121
79Prolactin signaling pathway_Homo sapiens_hsa049170.52494899
80Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.51687564
81Sphingolipid signaling pathway_Homo sapiens_hsa040710.51066590
82Adipocytokine signaling pathway_Homo sapiens_hsa049200.50825333
83Insulin resistance_Homo sapiens_hsa049310.50744098
84Regulation of actin cytoskeleton_Homo sapiens_hsa048100.50487048
85HIF-1 signaling pathway_Homo sapiens_hsa040660.47706357
86Choline metabolism in cancer_Homo sapiens_hsa052310.47228737
87SNARE interactions in vesicular transport_Homo sapiens_hsa041300.46235261
88Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.46135239
89Glycerophospholipid metabolism_Homo sapiens_hsa005640.45757937
90Viral carcinogenesis_Homo sapiens_hsa052030.45748114
91Renin-angiotensin system_Homo sapiens_hsa046140.43184048
92Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.41610854
93MicroRNAs in cancer_Homo sapiens_hsa052060.41473445
94Fructose and mannose metabolism_Homo sapiens_hsa000510.40987551
95Endocytosis_Homo sapiens_hsa041440.39775884
96Proteoglycans in cancer_Homo sapiens_hsa052050.39655962
97HTLV-I infection_Homo sapiens_hsa051660.39540854
98Non-small cell lung cancer_Homo sapiens_hsa052230.38161229
99Inositol phosphate metabolism_Homo sapiens_hsa005620.36974762
100Endometrial cancer_Homo sapiens_hsa052130.36920465
101Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.36440986
102MAPK signaling pathway_Homo sapiens_hsa040100.36017140
103Phosphatidylinositol signaling system_Homo sapiens_hsa040700.36011216
104VEGF signaling pathway_Homo sapiens_hsa043700.34485847
105Rap1 signaling pathway_Homo sapiens_hsa040150.32920397
106One carbon pool by folate_Homo sapiens_hsa006700.30573507
107Phospholipase D signaling pathway_Homo sapiens_hsa040720.26841166
108Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.26337719
109Prostate cancer_Homo sapiens_hsa052150.25332939
110Galactose metabolism_Homo sapiens_hsa000520.24196775
111Starch and sucrose metabolism_Homo sapiens_hsa005000.22867391
112Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.21666386
113Focal adhesion_Homo sapiens_hsa045100.21559485
114FoxO signaling pathway_Homo sapiens_hsa040680.21054953
115mTOR signaling pathway_Homo sapiens_hsa041500.20870873
116Type I diabetes mellitus_Homo sapiens_hsa049400.20097898

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