BTLA

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of endogenous antigen (GO:0019883)7.59559261
2positive regulation of gamma-delta T cell activation (GO:0046645)6.94640746
3antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)6.59597608
4antigen processing and presentation of endogenous peptide antigen (GO:0002483)6.59597608
5B cell receptor signaling pathway (GO:0050853)5.96739594
6positive thymic T cell selection (GO:0045059)5.85477133
7regulation of B cell receptor signaling pathway (GO:0050855)5.85331779
8negative thymic T cell selection (GO:0045060)5.77744942
9negative T cell selection (GO:0043383)5.66086405
10regulation of gamma-delta T cell differentiation (GO:0045586)5.48233125
11regulation of gamma-delta T cell activation (GO:0046643)5.13005231
12response to interleukin-15 (GO:0070672)4.97590865
13thymic T cell selection (GO:0045061)4.92640652
14positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.89031295
15positive regulation of interleukin-2 biosynthetic process (GO:0045086)4.86760672
16regulation of interleukin-12 biosynthetic process (GO:0045075)4.83001728
17cellular response to interleukin-15 (GO:0071350)4.80666021
18regulation of B cell differentiation (GO:0045577)4.79565768
19regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.75110970
20positive T cell selection (GO:0043368)4.73815155
21T cell selection (GO:0045058)4.65095542
22regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)4.54484810
23cellular response to zinc ion (GO:0071294)4.44506949
24B cell mediated immunity (GO:0019724)4.42938309
25negative regulation of cell killing (GO:0031342)4.36612834
26negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.36612834
27detection of bacterium (GO:0016045)4.34287565
28positive regulation by symbiont of host defense response (GO:0052509)4.32214869
29modulation by symbiont of host defense response (GO:0052031)4.32214869
30modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.32214869
31modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.32214869
32positive regulation by organism of defense response of other organism involved in symbiotic interact4.32214869
33modulation by symbiont of host immune response (GO:0052553)4.32214869
34detection of other organism (GO:0098543)4.18314930
35positive regulation of B cell differentiation (GO:0045579)4.08965471
36regulation of antigen receptor-mediated signaling pathway (GO:0050854)4.04197859
37positive regulation of interleukin-2 production (GO:0032743)4.03563818
38antigen receptor-mediated signaling pathway (GO:0050851)4.02448558
39B cell proliferation (GO:0042100)4.01328236
40NIK/NF-kappaB signaling (GO:0038061)3.90508827
41* regulation of alpha-beta T cell proliferation (GO:0046640)3.86438926
42regulation of isotype switching to IgG isotypes (GO:0048302)3.81071244
43mature B cell differentiation (GO:0002335)3.78721671
44cellular response to interferon-gamma (GO:0071346)3.77118698
45antigen processing and presentation via MHC class Ib (GO:0002475)3.77086094
46tolerance induction (GO:0002507)3.74071624
47defense response to protozoan (GO:0042832)3.73797810
48regulation of antigen processing and presentation (GO:0002577)3.73447666
49positive regulation of alpha-beta T cell proliferation (GO:0046641)3.70220535
50regulation of interleukin-2 biosynthetic process (GO:0045076)3.65546306
51T cell migration (GO:0072678)3.64577324
52* T cell costimulation (GO:0031295)3.63859729
53interferon-gamma-mediated signaling pathway (GO:0060333)3.63544653
54* regulation of B cell proliferation (GO:0030888)3.59563782
55* lymphocyte costimulation (GO:0031294)3.56432632
56antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.55808507
57regulation of interferon-beta biosynthetic process (GO:0045357)3.54483821
58positive regulation of B cell proliferation (GO:0030890)3.52947022
59leukocyte aggregation (GO:0070486)3.51989296
60positive regulation of isotype switching (GO:0045830)3.51728723
61regulation of T cell tolerance induction (GO:0002664)3.50718072
62detection of external biotic stimulus (GO:0098581)3.48465507
63positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.48062415
64positive regulation of immunoglobulin production (GO:0002639)3.46093234
65macrophage activation involved in immune response (GO:0002281)3.45439217
66JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)3.43776331
67response to protozoan (GO:0001562)3.41794565
68regulation of regulatory T cell differentiation (GO:0045589)3.40556359
69positive regulation of interferon-alpha production (GO:0032727)3.38534666
70positive regulation of type 2 immune response (GO:0002830)3.37780511
71T cell receptor signaling pathway (GO:0050852)3.37756439
72positive regulation of humoral immune response (GO:0002922)3.37326408
73regulation of T cell receptor signaling pathway (GO:0050856)3.34765667
74immune response-activating cell surface receptor signaling pathway (GO:0002429)3.34581622
75T cell lineage commitment (GO:0002360)3.33293499
76negative regulation of T cell mediated immunity (GO:0002710)3.32229176
77positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.30160761
78positive regulation of B cell activation (GO:0050871)3.29136334
79negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)3.28856918
80interferon-gamma production (GO:0032609)3.28425580
81germinal center formation (GO:0002467)3.25626332
82lymphocyte homeostasis (GO:0002260)3.25415152
83regulation of interferon-alpha production (GO:0032647)3.24084509
84B cell homeostasis (GO:0001782)3.24061749
85response to interferon-gamma (GO:0034341)3.22775221
86positive regulation of interleukin-12 production (GO:0032735)3.22328812
87response to host immune response (GO:0052572)3.21635911
88response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.21635911
89positive regulation of mast cell activation (GO:0033005)3.16417418
90T cell homeostasis (GO:0043029)3.15512646
91activated T cell proliferation (GO:0050798)3.14672642
92mast cell activation (GO:0045576)3.13608317
93positive regulation of granulocyte differentiation (GO:0030854)3.11590619
94response to type I interferon (GO:0034340)3.11099102
95microglial cell activation (GO:0001774)3.10704463
96T-helper 1 type immune response (GO:0042088)3.09421786
97regulation of immunoglobulin production (GO:0002637)3.07176077
98regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)3.06665618
99lymphocyte proliferation (GO:0046651)3.06259400
100myeloid dendritic cell activation (GO:0001773)3.04369589
101mononuclear cell proliferation (GO:0032943)3.03916780
102regulation of B cell apoptotic process (GO:0002902)3.03841749
103cellular response to type I interferon (GO:0071357)3.02711152
104type I interferon signaling pathway (GO:0060337)3.02711152
105T cell proliferation (GO:0042098)3.02078259
106positive regulation of DNA recombination (GO:0045911)3.01765954
107cellular response to exogenous dsRNA (GO:0071360)3.01555123
108production of molecular mediator of immune response (GO:0002440)3.01453725
109* regulation of B cell activation (GO:0050864)3.00427972
110cytidine metabolic process (GO:0046087)2.99408842
111cytidine catabolic process (GO:0006216)2.99408842
112cytidine deamination (GO:0009972)2.99408842
113lymph node development (GO:0048535)2.99012041
114regulation of dendritic cell antigen processing and presentation (GO:0002604)2.98714163
115negative regulation of B cell apoptotic process (GO:0002903)2.98639289
116positive regulation of cytokine biosynthetic process (GO:0042108)2.98335197
117response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.98241569
118response to host (GO:0075136)2.98241569
119response to host defenses (GO:0052200)2.98241569
120regulation of interleukin-12 production (GO:0032655)2.94514476
121positive regulation of antigen processing and presentation (GO:0002579)2.94288940
122cellular response to interferon-beta (GO:0035458)2.93769164
123myeloid dendritic cell differentiation (GO:0043011)2.93767814
124immunoglobulin mediated immune response (GO:0016064)2.91999392
125regulation of interleukin-2 production (GO:0032663)2.91437127
126positive regulation of B cell mediated immunity (GO:0002714)2.90663440
127positive regulation of immunoglobulin mediated immune response (GO:0002891)2.90663440
128regulation of isotype switching (GO:0045191)2.89116070
129CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.87907156
130regulation of B cell mediated immunity (GO:0002712)2.87248209
131regulation of type I interferon-mediated signaling pathway (GO:0060338)2.86572829
132positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.86339629
133B cell activation (GO:0042113)2.84946496
134respiratory burst (GO:0045730)2.84875635
135regulation of response to interferon-gamma (GO:0060330)2.80307066

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* FOXP3_17237761_ChIP-ChIP_TREG_Mouse6.27793231
2IRF8_22096565_ChIP-ChIP_GC-B_Human6.01853142
3IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.69500889
4STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.64376656
5E2F7_22180533_ChIP-Seq_HELA_Human4.52786938
6MYC_22102868_ChIP-Seq_BL_Human4.06582433
7IRF8_21731497_ChIP-ChIP_J774_Mouse3.93560763
8SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.63565496
9MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.11869121
10RUNX_20019798_ChIP-Seq_JUKART_Human3.10309953
11STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.05563545
12IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.04927936
13SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.95970808
14FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.94044711
15MYB_26560356_Chip-Seq_TH2_Human2.89218504
16STAT4_19710469_ChIP-ChIP_TH1__Mouse2.83230837
17IRF8_27001747_Chip-Seq_BMDM_Mouse2.83105765
18MAF_26560356_Chip-Seq_TH1_Human2.74770843
19VDR_21846776_ChIP-Seq_THP-1_Human2.74572228
20MYB_26560356_Chip-Seq_TH1_Human2.67425523
21EGR1_19374776_ChIP-ChIP_THP-1_Human2.63872910
22NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.38196187
23UTX_26944678_Chip-Seq_JUKART_Human2.28790042
24E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.28582161
25SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.25451246
26NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.21912818
27SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.20820321
28NOTCH1_21737748_ChIP-Seq_TLL_Human2.16768361
29ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.08441546
30SPI1_23547873_ChIP-Seq_NB4_Human2.05427249
31MAF_26560356_Chip-Seq_TH2_Human1.90291144
32VDR_24763502_ChIP-Seq_THP-1_Human1.90272831
33TCF7_22412390_ChIP-Seq_EML_Mouse1.87012592
34CIITA_25753668_ChIP-Seq_RAJI_Human1.85891875
35MYB_21317192_ChIP-Seq_ERMYB_Mouse1.83377293
36FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.83290243
37KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.82756273
38GATA3_27048872_Chip-Seq_THYMUS_Human1.81380130
39RUNX1_22412390_ChIP-Seq_EML_Mouse1.80912546
40BRD4_27068464_Chip-Seq_AML-cells_Mouse1.76558715
41RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.69862714
42FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.63464183
43SCL_19346495_ChIP-Seq_HPC-7_Human1.62783814
44RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.59294941
45VDR_24787735_ChIP-Seq_THP-1_Human1.59236193
46KDM2B_26808549_Chip-Seq_DND41_Human1.55843631
47FOXM1_23109430_ChIP-Seq_U2OS_Human1.53273562
48VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.51086262
49CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.48726365
50SPI1_23127762_ChIP-Seq_K562_Human1.46210572
51SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.45948625
52FLI1_27457419_Chip-Seq_LIVER_Mouse1.44080400
53KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.43813128
54NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.42823763
55ELF1_17652178_ChIP-ChIP_JURKAT_Human1.38575039
56TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.38013750
57KDM2B_26808549_Chip-Seq_SUP-B15_Human1.37872583
58BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.36202318
59BP1_19119308_ChIP-ChIP_Hs578T_Human1.36190364
60MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.36037618
61GATA1_22025678_ChIP-Seq_K562_Human1.31862679
62PU_27001747_Chip-Seq_BMDM_Mouse1.31586341
63GATA2_22383799_ChIP-Seq_G1ME_Mouse1.31315763
64LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.25903730
65PU.1_20513432_ChIP-Seq_Bcells_Mouse1.24141411
66E2F4_17652178_ChIP-ChIP_JURKAT_Human1.23774440
67Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.20444098
68GATA3_26560356_Chip-Seq_TH2_Human1.19940432
69VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.17827049
70VDR_23849224_ChIP-Seq_CD4+_Human1.13133626
71GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.12544964
72NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.08852094
73CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.08144658
74EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.06441018
75FOXP3_21729870_ChIP-Seq_TREG_Human1.06173091
76GATA1_22383799_ChIP-Seq_G1ME_Mouse1.05871406
77CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.03790287
78ERG_20887958_ChIP-Seq_HPC-7_Mouse1.02829417
79HOXB4_20404135_ChIP-ChIP_EML_Mouse1.00531334
80TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.00083665
81ELK3_25401928_ChIP-Seq_HUVEC_Human0.99945979
82LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.97514884
83KDM5A_27292631_Chip-Seq_BREAST_Human0.97377011
84PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.95610778
85PCGF2_27294783_Chip-Seq_ESCs_Mouse0.95322824
86TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.93531434
87PCGF2_27294783_Chip-Seq_NPCs_Mouse0.93027982
88RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.89826076
89CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.88455166
90IKZF1_21737484_ChIP-ChIP_HCT116_Human0.87463769
91* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.85443093
92SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.85361526
93E2F1_21310950_ChIP-Seq_MCF-7_Human0.84610247
94SMAD_19615063_ChIP-ChIP_OVARY_Human0.84276841
95IRF1_19129219_ChIP-ChIP_H3396_Human0.84143208
96PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.81430061
97KDM2B_26808549_Chip-Seq_JURKAT_Human0.81173205
98EGR1_23403033_ChIP-Seq_LIVER_Mouse0.77622847
99NCOR1_26117541_ChIP-Seq_K562_Human0.76401619
100RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.76292604
101GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.74490187
102FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.73376769
103ELK1_19687146_ChIP-ChIP_HELA_Human0.73234246
104P300_27268052_Chip-Seq_Bcells_Human0.73215882
105PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.72608092
106GATA1_19941827_ChIP-Seq_MEL_Mouse0.72569495
107CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.70983079
108SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.70930568
109ETS1_22383799_ChIP-Seq_G1ME_Mouse0.70148335
110SALL4_22934838_ChIP-ChIP_CD34+_Human0.69482109
111RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.69473285
112GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.69471440
113DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.69101827
114CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.68205372
115FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.67658012
116SMRT_27268052_Chip-Seq_Bcells_Human0.67372688
117* GATA3_26560356_Chip-Seq_TH1_Human0.66691918
118MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.66357743
119BCL6_27268052_Chip-Seq_Bcells_Human0.65874229

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation5.74301519
2MP0001790_abnormal_immune_system4.47520140
3MP0005387_immune_system_phenotype4.47520140
4* MP0001800_abnormal_humoral_immune4.28339036
5MP0000685_abnormal_immune_system3.94504807
6MP0003763_abnormal_thymus_physiology3.59659594
7* MP0002452_abnormal_antigen_presenting3.39724489
8* MP0005671_abnormal_response_to3.26205354
9* MP0005000_abnormal_immune_tolerance3.18657336
10MP0003303_peritoneal_inflammation3.05867542
11* MP0002723_abnormal_immune_serum3.05442598
12* MP0002420_abnormal_adaptive_immunity2.98309144
13* MP0001819_abnormal_immune_cell2.94578199
14* MP0002398_abnormal_bone_marrow2.84077045
15MP0002166_altered_tumor_susceptibility2.75477593
16* MP0000716_abnormal_immune_system2.56899791
17MP0003436_decreased_susceptibility_to2.55451655
18MP0000689_abnormal_spleen_morphology2.50744718
19MP0009785_altered_susceptibility_to2.43029655
20MP0005025_abnormal_response_to2.40604416
21MP0003300_gastrointestinal_ulcer2.35875565
22MP0002148_abnormal_hypersensitivity_rea2.24534044
23MP0002006_tumorigenesis2.18636663
24MP0002722_abnormal_immune_system2.17464273
25MP0002405_respiratory_system_inflammati2.13936802
26* MP0002429_abnormal_blood_cell2.11495356
27MP0009333_abnormal_splenocyte_physiolog2.07370615
28MP0002419_abnormal_innate_immunity2.04334474
29MP0004510_myositis2.02070716
30MP0001853_heart_inflammation2.01620962
31MP0002396_abnormal_hematopoietic_system2.00480945
32MP0001873_stomach_inflammation1.96031847
33MP0010155_abnormal_intestine_physiology1.90662281
34MP0000703_abnormal_thymus_morphology1.87708140
35MP0008057_abnormal_DNA_replication1.76859259
36MP0003866_abnormal_defecation1.76418982
37MP0001845_abnormal_inflammatory_respons1.73573489
38MP0005645_abnormal_hypothalamus_physiol1.69608703
39MP0004808_abnormal_hematopoietic_stem1.67614851
40MP0006082_CNS_inflammation1.67464172
41MP0005451_abnormal_body_composition1.65203914
42MP0002933_joint_inflammation1.59861321
43MP0004381_abnormal_hair_follicle1.51218340
44MP0005464_abnormal_platelet_physiology1.48904999
45MP0004947_skin_inflammation1.48611609
46MP0005310_abnormal_salivary_gland1.47209192
47MP0002163_abnormal_gland_morphology1.24068471
48MP0003183_abnormal_peptide_metabolism1.16017847
49MP0000465_gastrointestinal_hemorrhage1.09878239
50MP0002019_abnormal_tumor_incidence1.06515447
51MP0010352_gastrointestinal_tract_polyps1.06294066
52MP0008469_abnormal_protein_level1.05909905
53MP0003077_abnormal_cell_cycle1.01044573
54MP0008260_abnormal_autophagy0.96211143
55MP0002009_preneoplasia0.95800726
56MP0004883_abnormal_blood_vessel0.91522617
57MP0000490_abnormal_crypts_of0.91518530
58MP0000569_abnormal_digit_pigmentation0.90914697
59MP0003806_abnormal_nucleotide_metabolis0.88540325
60MP0003787_abnormal_imprinting0.88223568
61MP0010094_abnormal_chromosome_stability0.85754157
62MP0005075_abnormal_melanosome_morpholog0.85020847
63MP0001533_abnormal_skeleton_physiology0.84046002
64MP0002138_abnormal_hepatobiliary_system0.83943741
65MP0003448_altered_tumor_morphology0.83237175
66MP0005076_abnormal_cell_differentiation0.82177913
67MP0005397_hematopoietic_system_phenotyp0.81947221
68MP0001545_abnormal_hematopoietic_system0.81947221
69MP0000858_altered_metastatic_potential0.81571928
70MP0003693_abnormal_embryo_hatching0.78841978
71MP0005174_abnormal_tail_pigmentation0.78525771
72MP0001851_eye_inflammation0.75879887
73MP0010234_abnormal_vibrissa_follicle0.75875298
74MP0002136_abnormal_kidney_physiology0.75116765
75MP0003091_abnormal_cell_migration0.73314202
76MP0003045_fibrosis0.70767840
77MP0003724_increased_susceptibility_to0.69610698
78MP0009764_decreased_sensitivity_to0.69325068
79MP0003252_abnormal_bile_duct0.65677974
80MP0008872_abnormal_physiological_respon0.65498262
81MP0008874_decreased_physiological_sensi0.65220330
82MP0005379_endocrine/exocrine_gland_phen0.64986261
83MP0008961_abnormal_basal_metabolism0.63190976
84MP0000371_diluted_coat_color0.62058458
85MP0005166_decreased_susceptibility_to0.61698524
86MP0002928_abnormal_bile_duct0.60179668
87MP0003111_abnormal_nucleus_morphology0.57510505
88MP0002998_abnormal_bone_remodeling0.57435111
89MP0006054_spinal_hemorrhage0.53952165
90MP0000350_abnormal_cell_proliferation0.53952085
91MP0000372_irregular_coat_pigmentation0.53622175
92MP0001663_abnormal_digestive_system0.53538265
93MP0002132_abnormal_respiratory_system0.53125813
94MP0008004_abnormal_stomach_pH0.52307882
95MP0000313_abnormal_cell_death0.51835538
96MP0003172_abnormal_lysosome_physiology0.50914041
97MP0009763_increased_sensitivity_to0.49411015
98MP0008058_abnormal_DNA_repair0.49096496
99MP0008877_abnormal_DNA_methylation0.48499848
100MP0000015_abnormal_ear_pigmentation0.48094400
101MP0002095_abnormal_skin_pigmentation0.46618660
102MP0000249_abnormal_blood_vessel0.46167717
103MP0005023_abnormal_wound_healing0.45978712
104MP0000604_amyloidosis0.45604284
105MP0000609_abnormal_liver_physiology0.45365286
106MP0009278_abnormal_bone_marrow0.45168243
107MP0005621_abnormal_cell_physiology0.45096933
108MP0004264_abnormal_extraembryonic_tissu0.44233905
109MP0003453_abnormal_keratinocyte_physiol0.43893680
110MP0010307_abnormal_tumor_latency0.43431317
111MP0009046_muscle_twitch0.43008976
112MP0002693_abnormal_pancreas_physiology0.42733268
113MP0002277_abnormal_respiratory_mucosa0.42599739
114MP0001348_abnormal_lacrimal_gland0.42451740
115MP0004957_abnormal_blastocyst_morpholog0.42277634
116MP0000477_abnormal_intestine_morphology0.42266383
117MP0009765_abnormal_xenobiotic_induced0.41132093
118MP0003795_abnormal_bone_structure0.39744903
119MP0004142_abnormal_muscle_tone0.39598221
120MP0002139_abnormal_hepatobiliary_system0.38784965
121MP0003566_abnormal_cell_adhesion0.38718616

Predicted human phenotypes

RankGene SetZ-score
1Agammaglobulinemia (HP:0004432)6.61362336
2Recurrent bronchitis (HP:0002837)6.06726080
3Gastrointestinal stroma tumor (HP:0100723)6.00064823
4Recurrent sinusitis (HP:0011108)5.13531603
5IgM deficiency (HP:0002850)5.12889938
6Recurrent viral infections (HP:0004429)5.00650877
7Chronic otitis media (HP:0000389)4.82202688
8Colitis (HP:0002583)4.81623364
9Inflammation of the large intestine (HP:0002037)4.70631993
10Abnormal delayed hypersensitivity skin test (HP:0002963)4.53814604
11Panhypogammaglobulinemia (HP:0003139)4.51677545
12Gastrointestinal inflammation (HP:0004386)4.50918849
13Emphysema (HP:0002097)4.50125676
14Lymphopenia (HP:0001888)4.39562168
15Vasculitis (HP:0002633)4.37837197
16T lymphocytopenia (HP:0005403)4.37108440
17Abnormality of T cell number (HP:0011839)4.26111759
18IgA deficiency (HP:0002720)4.24124513
19Meningitis (HP:0001287)4.21279865
20Abnormality of cells of the lymphoid lineage (HP:0012140)4.20987209
21Recurrent cutaneous fungal infections (HP:0011370)4.20586601
22Chronic mucocutaneous candidiasis (HP:0002728)4.20586601
23Recurrent fungal infections (HP:0002841)4.19286721
24Cellulitis (HP:0100658)4.08684793
25Abnormality of T cells (HP:0002843)3.89954146
26Papilloma (HP:0012740)3.87771807
27Verrucae (HP:0200043)3.87771807
28Chronic sinusitis (HP:0011109)3.78817711
29Chronic diarrhea (HP:0002028)3.72177124
30Eczematoid dermatitis (HP:0000976)3.69679616
31IgG deficiency (HP:0004315)3.69181922
32Recurrent abscess formation (HP:0002722)3.49903342
33Abnormality of the fingertips (HP:0001211)3.49253694
34Restrictive lung disease (HP:0002091)3.46371952
35Bronchitis (HP:0012387)3.42674541
36Abnormality of T cell physiology (HP:0011840)3.41713452
37Nasal polyposis (HP:0100582)3.38884469
38B lymphocytopenia (HP:0010976)3.36814892
39Abnormality of B cell number (HP:0010975)3.36814892
40Abnormality of the pleura (HP:0002103)3.30972116
41Abnormality of the prostate (HP:0008775)3.30740085
42Mediastinal lymphadenopathy (HP:0100721)3.30430939
43Recurrent bacterial skin infections (HP:0005406)3.25628956
44Obstructive lung disease (HP:0006536)3.17477652
45Chronic obstructive pulmonary disease (HP:0006510)3.17477652
46Urticaria (HP:0001025)3.16690839
47Lymphoma (HP:0002665)3.15651893
48Elevated erythrocyte sedimentation rate (HP:0003565)3.12544076
49Recurrent skin infections (HP:0001581)3.12238930
50Stomatitis (HP:0010280)3.04996503
51Thrombocytosis (HP:0001894)3.01391651
52Pulmonary infiltrates (HP:0002113)2.90318716
53Recurrent otitis media (HP:0000403)2.90283354
54Recurrent pneumonia (HP:0006532)2.80697091
55Orchitis (HP:0100796)2.79035014
56Recurrent lower respiratory tract infections (HP:0002783)2.78836409
57Pustule (HP:0200039)2.77628347
58Thyroiditis (HP:0100646)2.77151362
59Autoimmune hemolytic anemia (HP:0001890)2.76861746
60Osteomyelitis (HP:0002754)2.76684395
61Abnormality of the nasal mucosa (HP:0000433)2.75181881
62Autoimmune thrombocytopenia (HP:0001973)2.72390497
63Abnormality of macrophages (HP:0004311)2.64708214
64Combined immunodeficiency (HP:0005387)2.61848256
65Leukopenia (HP:0001882)2.58014608
66Gastrointestinal infarctions (HP:0005244)2.54086170
67Severe combined immunodeficiency (HP:0004430)2.51470976
68Hemoptysis (HP:0002105)2.50644455
69Encephalitis (HP:0002383)2.48592670
70Myositis (HP:0100614)2.48501909
71Gangrene (HP:0100758)2.47918375
72Small epiphyses (HP:0010585)2.42700313
73Spontaneous hematomas (HP:0007420)2.41363731
74Mitral stenosis (HP:0001718)2.38505796
75Glomerulopathy (HP:0100820)2.38194706
76Skin rash (HP:0000988)2.36300175
77Keratoconjunctivitis sicca (HP:0001097)2.31007296
78Pulmonary embolism (HP:0002204)2.30724109
79Hypoplasia of the thymus (HP:0000778)2.28845776
80Acrocyanosis (HP:0001063)2.28121387
81Viral hepatitis (HP:0006562)2.28121227
82Interstitial pulmonary disease (HP:0006530)2.27816839
83Chest pain (HP:0100749)2.27680686
84Skin ulcer (HP:0200042)2.27070471
85Ureteral stenosis (HP:0000071)2.25457326
86Sepsis (HP:0100806)2.23626224
87Arthralgia (HP:0002829)2.19002486
88Epistaxis (HP:0000421)2.18658745
89Keratoconjunctivitis (HP:0001096)2.17625951
90Ureteral obstruction (HP:0006000)2.17104962
91Abnormality of male internal genitalia (HP:0000022)2.15612972
92Increased IgE level (HP:0003212)2.15578501
93Eosinophilia (HP:0001880)2.10966656
94Arthropathy (HP:0003040)2.10195410
95Anorexia (HP:0002039)2.10160448
96Arterial thrombosis (HP:0004420)2.09862852
97Basal cell carcinoma (HP:0002671)2.09315970
98Papilledema (HP:0001085)2.07146315
99Increased density of long bones (HP:0006392)2.03817589
100Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.02785580
101Abnormality of the peritoneum (HP:0002585)2.01173112
102Abnormality of eosinophils (HP:0001879)2.00407860
103Xerostomia (HP:0000217)1.99607468
104Fatigue (HP:0012378)1.97928353
105Optic neuritis (HP:0100653)1.97597829
106Retrobulbar optic neuritis (HP:0100654)1.97597829
107Periodontitis (HP:0000704)1.97588508
108Increased IgM level (HP:0003496)1.96313807
109Leukocytosis (HP:0001974)1.94892106
110Granulocytopenia (HP:0001913)1.93854998
111Amaurosis fugax (HP:0100576)1.92131960
112Neutropenia (HP:0001875)1.91455274
113Myocardial infarction (HP:0001658)1.87071588
114Hypergammaglobulinemia (HP:0010702)1.85483152
115Pulmonary fibrosis (HP:0002206)1.85360858
116Joint swelling (HP:0001386)1.82131285
117Gingival bleeding (HP:0000225)1.82077372
118Vertebral arch anomaly (HP:0008438)1.80321636
119Recurrent gram-negative bacterial infections (HP:0005420)1.79250766

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K17.32252288
2BMPR23.50270974
3MAP3K143.05694203
4CDK193.05023612
5JAK32.88333683
6TYK22.74791524
7TXK2.65595191
8GRK62.61411239
9MAP3K132.51390557
10CSF1R2.33503131
11SYK2.33465316
12STK102.29075806
13BLK2.21940168
14ITK2.21385174
15PRPF4B2.19088302
16BTK2.15123714
17JAK12.06934326
18ZAP702.05896982
19FGFR42.03914911
20LRRK21.94554455
21TEC1.83355004
22IKBKE1.81561837
23MAP3K101.79172767
24TBK11.75516324
25IKBKB1.73228600
26TAOK31.72922192
27KIT1.72620942
28FGFR31.64787506
29ERN11.62497507
30RIPK41.59366562
31EEF2K1.59163843
32CSK1.58607210
33CDK121.51890583
34IRAK41.49416555
35MST41.48934862
36HCK1.48678351
37LCK1.47411793
38IRAK11.45078309
39LYN1.37123292
40SIK21.33486075
41IRAK21.30473588
42PRKCQ1.26785785
43FGR1.24653834
44TRPM71.21175920
45MARK31.16478476
46CHUK1.15415482
47SIK31.08814209
48PIM11.04975679
49IRAK31.04175188
50NLK1.02084189
51TLK10.99474140
52MAP3K30.90603774
53MAP2K30.85696485
54BRD40.85435648
55RPS6KA40.85225956
56PRKCH0.84815386
57PIK3CG0.82441075
58ZAK0.81154879
59CLK10.78111835
60FES0.76725727
61TAOK20.75046721
62ALK0.70739682
63GRK10.70049761
64MAP3K70.69358679
65JAK20.69223550
66TGFBR20.67075720
67TRIB30.66515436
68CDK40.64929936
69PDK10.64421796
70MAPK120.62636938
71TNK20.61656441
72EPHB10.59534770
73TESK20.56729670
74HIPK20.54881111
75EPHA30.54428513
76FRK0.53988011
77SIK10.52469521
78MAP3K80.50936249
79MAP3K120.50703823
80SMG10.50211491
81ABL10.48777405
82STK40.46703992
83CDK90.46648912
84SGK20.46298872
85STK240.45920336
86MELK0.45494586
87NEK90.44958402
88VRK10.44580495
89INSR0.41545007
90NEK20.39363434
91EIF2AK30.38942990
92PRKD20.38407890
93CCNB10.37945341
94KDR0.37339435
95TAOK10.36555416
96MAP3K50.35531110
97EGFR0.34864137
98PKN20.34576737
99CDK60.34263703
100CDC42BPA0.33356494
101NME20.32816981
102TTN0.32289332
103FYN0.31424496
104CHEK10.31160201
105NUAK10.30497653
106MAPK70.30078753
107SGK30.28757253
108MATK0.28543156
109PDPK10.27976480
110ATR0.27567577
111MAPK110.27158301
112MARK20.27116432
113PRKCD0.26608830
114DAPK30.25923892
115CAMKK10.25867381
116FLT30.25239428
117MAPK40.25082966
118CAMKK20.24545018
119PASK0.24312598
120RPS6KA50.23305883
121PKN10.22727774
122YES10.22042007
123RAF10.21556094
124CAMK1G0.21337322
125MAPK30.21210817
126CDC70.19764194
127IGF1R0.19336990
128PTK2B0.19335344
129MAPKAPK20.18769455

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053405.74869082
2B cell receptor signaling pathway_Homo sapiens_hsa046624.11741554
3Intestinal immune network for IgA production_Homo sapiens_hsa046723.13972720
4NF-kappa B signaling pathway_Homo sapiens_hsa040643.10789911
5T cell receptor signaling pathway_Homo sapiens_hsa046602.75290247
6Hematopoietic cell lineage_Homo sapiens_hsa046402.60677619
7Antigen processing and presentation_Homo sapiens_hsa046122.39786905
8Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.36169619
9Allograft rejection_Homo sapiens_hsa053302.32633444
10Measles_Homo sapiens_hsa051622.29334250
11Leishmaniasis_Homo sapiens_hsa051402.20838748
12Osteoclast differentiation_Homo sapiens_hsa043802.09806064
13Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.05416025
14Systemic lupus erythematosus_Homo sapiens_hsa053221.96145542
15Herpes simplex infection_Homo sapiens_hsa051681.83744145
16RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.71385832
17Graft-versus-host disease_Homo sapiens_hsa053321.67834963
18Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.67328226
19Jak-STAT signaling pathway_Homo sapiens_hsa046301.67279846
20Toll-like receptor signaling pathway_Homo sapiens_hsa046201.65016425
21Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.58347484
22Chemokine signaling pathway_Homo sapiens_hsa040621.55826843
23Autoimmune thyroid disease_Homo sapiens_hsa053201.54817289
24Viral myocarditis_Homo sapiens_hsa054161.52701157
25NOD-like receptor signaling pathway_Homo sapiens_hsa046211.49697244
26Toxoplasmosis_Homo sapiens_hsa051451.44246952
27Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.40148447
28Influenza A_Homo sapiens_hsa051641.37673753
29Hepatitis B_Homo sapiens_hsa051611.33565081
30Epstein-Barr virus infection_Homo sapiens_hsa051691.30812751
31Base excision repair_Homo sapiens_hsa034101.24330030
32Tuberculosis_Homo sapiens_hsa051521.23827533
33Shigellosis_Homo sapiens_hsa051311.20161642
34Type I diabetes mellitus_Homo sapiens_hsa049401.19070518
35Leukocyte transendothelial migration_Homo sapiens_hsa046701.15818255
36Acute myeloid leukemia_Homo sapiens_hsa052211.12228963
37Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.10444156
38TNF signaling pathway_Homo sapiens_hsa046681.07941320
39Apoptosis_Homo sapiens_hsa042101.07413057
40Asthma_Homo sapiens_hsa053101.03099551
41Chronic myeloid leukemia_Homo sapiens_hsa052201.01271014
42Pancreatic cancer_Homo sapiens_hsa052120.97698312
43Viral carcinogenesis_Homo sapiens_hsa052030.97060345
44HTLV-I infection_Homo sapiens_hsa051660.96948226
45Phagosome_Homo sapiens_hsa041450.95023331
46DNA replication_Homo sapiens_hsa030300.93889463
47Legionellosis_Homo sapiens_hsa051340.92992244
48Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.92020712
49Non-homologous end-joining_Homo sapiens_hsa034500.91629397
50Mismatch repair_Homo sapiens_hsa034300.89372379
51Platelet activation_Homo sapiens_hsa046110.88758394
52Hepatitis C_Homo sapiens_hsa051600.87308525
53Transcriptional misregulation in cancer_Homo sapiens_hsa052020.84536312
54Malaria_Homo sapiens_hsa051440.83624649
55Non-small cell lung cancer_Homo sapiens_hsa052230.83557565
56AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.83431496
57Neurotrophin signaling pathway_Homo sapiens_hsa047220.83230047
58Ribosome_Homo sapiens_hsa030100.79606215
59Prolactin signaling pathway_Homo sapiens_hsa049170.79191341
60Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.75952991
61Pertussis_Homo sapiens_hsa051330.74975692
62Small cell lung cancer_Homo sapiens_hsa052220.71424477
63African trypanosomiasis_Homo sapiens_hsa051430.70392206
64Spliceosome_Homo sapiens_hsa030400.65908456
65Salmonella infection_Homo sapiens_hsa051320.62906155
66Phosphatidylinositol signaling system_Homo sapiens_hsa040700.60881855
67Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.58849769
68VEGF signaling pathway_Homo sapiens_hsa043700.58438417
69Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.56561740
70p53 signaling pathway_Homo sapiens_hsa041150.54105217
71MAPK signaling pathway_Homo sapiens_hsa040100.53821212
72Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.52849196
73RNA degradation_Homo sapiens_hsa030180.51385610
74mTOR signaling pathway_Homo sapiens_hsa041500.51075758
75SNARE interactions in vesicular transport_Homo sapiens_hsa041300.50930175
76Notch signaling pathway_Homo sapiens_hsa043300.50926113
77Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.49439160
78MicroRNAs in cancer_Homo sapiens_hsa052060.48813255
79mRNA surveillance pathway_Homo sapiens_hsa030150.46682328
80Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.44901083
81Colorectal cancer_Homo sapiens_hsa052100.44516825
82Inositol phosphate metabolism_Homo sapiens_hsa005620.42532072
83Lysine degradation_Homo sapiens_hsa003100.40728345
84One carbon pool by folate_Homo sapiens_hsa006700.39119599
85Prostate cancer_Homo sapiens_hsa052150.37755685
86Insulin resistance_Homo sapiens_hsa049310.37258158
87HIF-1 signaling pathway_Homo sapiens_hsa040660.35354596
88Homologous recombination_Homo sapiens_hsa034400.35075421
89FoxO signaling pathway_Homo sapiens_hsa040680.34875195
90Thyroid hormone signaling pathway_Homo sapiens_hsa049190.34494377
91Staphylococcus aureus infection_Homo sapiens_hsa051500.34210837
92RNA transport_Homo sapiens_hsa030130.33314594
93Alcoholism_Homo sapiens_hsa050340.32744667
94Adipocytokine signaling pathway_Homo sapiens_hsa049200.30569562
95Renal cell carcinoma_Homo sapiens_hsa052110.30362991
96Endocytosis_Homo sapiens_hsa041440.29879005
97Regulation of actin cytoskeleton_Homo sapiens_hsa048100.28500418
98Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.28392120
99Nucleotide excision repair_Homo sapiens_hsa034200.26520126
100Proteoglycans in cancer_Homo sapiens_hsa052050.25241712
101Sphingolipid signaling pathway_Homo sapiens_hsa040710.23127960
102Fanconi anemia pathway_Homo sapiens_hsa034600.21902795
103Cell cycle_Homo sapiens_hsa041100.21169859
104Rheumatoid arthritis_Homo sapiens_hsa053230.19702304
105Pathways in cancer_Homo sapiens_hsa052000.19432142
106Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.19358852
107Phototransduction_Homo sapiens_hsa047440.19314084
108Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.15312074
109Proteasome_Homo sapiens_hsa030500.13093214
110Regulation of autophagy_Homo sapiens_hsa041400.11470837
111Olfactory transduction_Homo sapiens_hsa047400.06173543
112Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.05857169
113Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.04840445
114Carbohydrate digestion and absorption_Homo sapiens_hsa049730.04735156
115Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.00376919
116RNA polymerase_Homo sapiens_hsa03020-0.0267283
117Protein export_Homo sapiens_hsa03060-0.0073869

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