HLA-DQB1

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: HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* immunoglobulin mediated immune response (GO:0016064)6.19429700
2antigen processing and presentation of endogenous antigen (GO:0019883)5.59702935
3regulation of antigen processing and presentation of peptide antigen (GO:0002583)5.51245507
4* interferon-gamma-mediated signaling pathway (GO:0060333)5.29136419
5regulation of antigen processing and presentation (GO:0002577)5.11950004
6positive regulation of gamma-delta T cell activation (GO:0046645)5.07330237
7detection of bacterium (GO:0016045)5.00453456
8antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.87471521
9antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.86859703
10detection of other organism (GO:0098543)4.83829949
11* B cell mediated immunity (GO:0019724)4.79958942
12regulation of dendritic cell antigen processing and presentation (GO:0002604)4.71422875
13antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.71232737
14positive regulation of antigen processing and presentation (GO:0002579)4.69067473
15T-helper 1 type immune response (GO:0042088)4.63613731
16regulation of B cell receptor signaling pathway (GO:0050855)4.58249416
17positive thymic T cell selection (GO:0045059)4.36561132
18modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.32768994
19modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.32768994
20positive regulation by organism of defense response of other organism involved in symbiotic interact4.32768994
21modulation by symbiont of host immune response (GO:0052553)4.32768994
22positive regulation by symbiont of host defense response (GO:0052509)4.32768994
23modulation by symbiont of host defense response (GO:0052031)4.32768994
24negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.29701615
25negative regulation of cell killing (GO:0031342)4.29701615
26B cell receptor signaling pathway (GO:0050853)4.28513657
27* cellular response to interferon-gamma (GO:0071346)4.11300953
28cellular response to type I interferon (GO:0071357)4.09216554
29type I interferon signaling pathway (GO:0060337)4.09216554
30response to type I interferon (GO:0034340)4.05986343
31neutrophil activation involved in immune response (GO:0002283)4.03889281
32response to peptidoglycan (GO:0032494)3.97459519
33macrophage activation involved in immune response (GO:0002281)3.88417522
34* T cell costimulation (GO:0031295)3.80213998
35detection of external biotic stimulus (GO:0098581)3.76118846
36* lymphocyte costimulation (GO:0031294)3.75205918
37* response to interferon-gamma (GO:0034341)3.69531072
38defense response to protozoan (GO:0042832)3.68171701
39regulation of gamma-delta T cell activation (GO:0046643)3.65955556
40negative regulation of interleukin-12 production (GO:0032695)3.65954677
41positive regulation of type 2 immune response (GO:0002830)3.65139901
42positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.53824635
43NIK/NF-kappaB signaling (GO:0038061)3.53471121
44positive regulation of B cell differentiation (GO:0045579)3.53092249
45regulation of interferon-beta biosynthetic process (GO:0045357)3.51390955
46response to protozoan (GO:0001562)3.49045804
47negative thymic T cell selection (GO:0045060)3.49005200
48myeloid dendritic cell activation (GO:0001773)3.45333784
49negative regulation of inflammatory response to antigenic stimulus (GO:0002862)3.44375695
50myeloid dendritic cell differentiation (GO:0043011)3.38945368
51T cell migration (GO:0072678)3.30937075
52regulation of alpha-beta T cell proliferation (GO:0046640)3.30480529
53detection of biotic stimulus (GO:0009595)3.29826442
54positive regulation of interferon-alpha production (GO:0032727)3.29416072
55regulation of T-helper 1 cell differentiation (GO:0045625)3.29027340
56regulation of interferon-alpha production (GO:0032647)3.27615007
57germinal center formation (GO:0002467)3.23813795
58positive T cell selection (GO:0043368)3.23226301
59positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.22027397
60negative T cell selection (GO:0043383)3.21963466
61positive regulation of mast cell activation (GO:0033005)3.20129415
62regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.19604938
63positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.17420712
64response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.16596584
65response to host immune response (GO:0052572)3.16596584
66regulation of B cell differentiation (GO:0045577)3.13024784
67CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)3.11884905
68response to muramyl dipeptide (GO:0032495)3.11465570
69myeloid cell activation involved in immune response (GO:0002275)3.10429808
70thymic T cell selection (GO:0045061)3.08305265
71* antigen receptor-mediated signaling pathway (GO:0050851)3.07532889
72regulation of mast cell degranulation (GO:0043304)3.06190347
73positive regulation of macrophage cytokine production (GO:0060907)3.04757528
74* adaptive immune response based on somatic recombination of immune receptors built from immunoglobuli3.01907609
75B cell homeostasis (GO:0001782)3.01809179
76microglial cell activation (GO:0001774)3.00673458
77T cell selection (GO:0045058)2.99983248
78regulation of hypersensitivity (GO:0002883)2.97908364
79positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610812.97765315
80regulation of mast cell activation (GO:0033003)2.96930470
81positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)2.96157324
82positive regulation of B cell mediated immunity (GO:0002714)2.92953536
83positive regulation of immunoglobulin mediated immune response (GO:0002891)2.92953536
84regulation of inflammatory response to antigenic stimulus (GO:0002861)2.91360163
85positive regulation of B cell proliferation (GO:0030890)2.90681645
86positive regulation of mast cell degranulation (GO:0043306)2.89200860
87positive regulation of mast cell activation involved in immune response (GO:0033008)2.89200860
88mature B cell differentiation involved in immune response (GO:0002313)2.88950837
89regulation of B cell proliferation (GO:0030888)2.87990850
90respiratory burst (GO:0045730)2.87276031
91regulation of T cell tolerance induction (GO:0002664)2.86829842
92response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.85618845
93response to host (GO:0075136)2.85618845
94response to host defenses (GO:0052200)2.85618845
95regulation of gamma-delta T cell differentiation (GO:0045586)2.85397168
96regulation of interleukin-12 production (GO:0032655)2.85218048
97response to interferon-beta (GO:0035456)2.84100174
98regulation of mast cell activation involved in immune response (GO:0033006)2.81791489
99positive regulation of B cell activation (GO:0050871)2.80918174
100positive regulation of interferon-gamma production (GO:0032729)2.80622812

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human7.86438783
2BP1_19119308_ChIP-ChIP_Hs578T_Human4.80603628
3IRF8_21731497_ChIP-ChIP_J774_Mouse4.76452076
4IRF1_21803131_ChIP-Seq_MONOCYTES_Human4.27755264
5IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.83368737
6IRF8_27001747_Chip-Seq_BMDM_Mouse3.30196847
7STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.20087964
8MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.18269031
9SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.17753312
10SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.14281797
11FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.08161312
12MYC_22102868_ChIP-Seq_BL_Human2.66862106
13STAT4_19710469_ChIP-ChIP_TH1__Mouse2.65761229
14NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.62083616
15VDR_21846776_ChIP-Seq_THP-1_Human2.57113605
16RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.54021691
17SPI1_23547873_ChIP-Seq_NB4_Human2.49660902
18VDR_24763502_ChIP-Seq_THP-1_Human2.47274129
19STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.45554169
20NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.42776979
21E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.42466268
22MYB_26560356_Chip-Seq_TH2_Human2.38505674
23SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.25085474
24MAF_26560356_Chip-Seq_TH1_Human2.23709415
25VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.21746611
26MYB_21317192_ChIP-Seq_ERMYB_Mouse2.20215509
27RUNX_20019798_ChIP-Seq_JUKART_Human2.10249167
28SCL_19346495_ChIP-Seq_HPC-7_Human2.06713638
29RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.05248320
30MYB_26560356_Chip-Seq_TH1_Human2.03893921
31SPI1_23127762_ChIP-Seq_K562_Human1.97730484
32EGR1_19374776_ChIP-ChIP_THP-1_Human1.95296131
33CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.91960889
34BRD4_27068464_Chip-Seq_AML-cells_Mouse1.91274440
35RUNX1_22412390_ChIP-Seq_EML_Mouse1.88426502
36UTX_26944678_Chip-Seq_JUKART_Human1.77704280
37FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.75139552
38* CIITA_25753668_ChIP-Seq_RAJI_Human1.73231038
39VDR_24787735_ChIP-Seq_THP-1_Human1.65886244
40Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.65713895
41SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.64635845
42GATA3_27048872_Chip-Seq_THYMUS_Human1.59182101
43GATA1_22025678_ChIP-Seq_K562_Human1.55545570
44FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.52489698
45MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.48076517
46MAF_26560356_Chip-Seq_TH2_Human1.47220570
47LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.43565457
48LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.39731759
49KDM2B_26808549_Chip-Seq_SUP-B15_Human1.38124615
50VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.37597504
51TCF7_22412390_ChIP-Seq_EML_Mouse1.36291310
52CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.35809140
53ELF1_17652178_ChIP-ChIP_JURKAT_Human1.35340526
54GATA3_26560356_Chip-Seq_TH2_Human1.32619277
55FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.30345406
56GATA2_22383799_ChIP-Seq_G1ME_Mouse1.29914034
57NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.28223470
58BCL6_27268052_Chip-Seq_Bcells_Human1.26442946
59LXR_22292898_ChIP-Seq_THP-1_Human1.26172443
60PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.25881746
61STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.22270173
62GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.22035316
63PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.21583800
64IKZF1_21737484_ChIP-ChIP_HCT116_Human1.20755618
65TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.18943466
66TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.18313923
67CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.17013741
68SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.16333877
69PU.1_20513432_ChIP-Seq_Bcells_Mouse1.16306566
70GATA1_22383799_ChIP-Seq_G1ME_Mouse1.13301970
71EGR1_23403033_ChIP-Seq_LIVER_Mouse1.13115237
72BCOR_27268052_Chip-Seq_Bcells_Human1.12736331
73GATA1_19941827_ChIP-Seq_MEL_Mouse1.12157723
74PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.11768475
75PU_27001747_Chip-Seq_BMDM_Mouse1.11744749
76THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.11726167
77NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.08350376
78CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.07997300
79CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.06508341
80ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.06483374
81KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.06210258
82KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.05586537
83STAT1_20625510_ChIP-Seq_HELA_Human1.03888962
84KDM2B_26808549_Chip-Seq_DND41_Human1.02466823
85TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.00634199
86ELF1_20517297_ChIP-Seq_JURKAT_Human1.00490953
87SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.95476611
88ELK3_25401928_ChIP-Seq_HUVEC_Human0.94070776
89PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.89946074
90P300_27268052_Chip-Seq_Bcells_Human0.89518819
91GATA1_19941826_ChIP-Seq_K562_Human0.88281832
92GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85518089
93SPI1_20517297_ChIP-Seq_HL60_Human0.82912587
94SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79151802
95GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78962489
96SMRT_27268052_Chip-Seq_Bcells_Human0.77322792
97NCOR1_26117541_ChIP-Seq_K562_Human0.76468481
98SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.75853847
99CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.74381907
100SMAD_19615063_ChIP-ChIP_OVARY_Human0.73164515

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation5.00972949
2MP0005671_abnormal_response_to3.99284564
3MP0003303_peritoneal_inflammation3.68149165
4MP0000685_abnormal_immune_system3.67475682
5MP0005387_immune_system_phenotype3.62314342
6MP0001790_abnormal_immune_system3.62314342
7MP0001800_abnormal_humoral_immune3.47448445
8MP0003436_decreased_susceptibility_to3.36544582
9MP0005000_abnormal_immune_tolerance3.23565961
10MP0003724_increased_susceptibility_to3.12672486
11MP0009785_altered_susceptibility_to2.98704321
12MP0002148_abnormal_hypersensitivity_rea2.98461477
13MP0002452_abnormal_antigen_presenting2.92393340
14MP0005025_abnormal_response_to2.82028733
15MP0002723_abnormal_immune_serum2.81090229
16MP0002419_abnormal_innate_immunity2.69551222
17MP0002420_abnormal_adaptive_immunity2.56920819
18MP0001819_abnormal_immune_cell2.54953857
19MP0006082_CNS_inflammation2.34565357
20MP0010155_abnormal_intestine_physiology2.26332716
21MP0002138_abnormal_hepatobiliary_system2.24007283
22MP0003763_abnormal_thymus_physiology2.07606265
23MP0003300_gastrointestinal_ulcer2.03264346
24MP0000716_abnormal_immune_system1.98025773
25MP0002398_abnormal_bone_marrow1.94785039
26MP0001845_abnormal_inflammatory_respons1.93840530
27MP0002139_abnormal_hepatobiliary_system1.91072352
28MP0002166_altered_tumor_susceptibility1.86315871
29MP0005464_abnormal_platelet_physiology1.81865112
30MP0005058_abnormal_lysosome_morphology1.81262282
31MP0003183_abnormal_peptide_metabolism1.80456467
32MP0002405_respiratory_system_inflammati1.69199053
33MP0009333_abnormal_splenocyte_physiolog1.68444601
34MP0001533_abnormal_skeleton_physiology1.66182178
35MP0004947_skin_inflammation1.65328167
36MP0003172_abnormal_lysosome_physiology1.62162394
37MP0009764_decreased_sensitivity_to1.60702672
38MP0000689_abnormal_spleen_morphology1.60557710
39MP0002429_abnormal_blood_cell1.57988070
40MP0008469_abnormal_protein_level1.54348947
41MP0005310_abnormal_salivary_gland1.52852213
42MP0001873_stomach_inflammation1.49345240
43MP0001853_heart_inflammation1.48515457
44MP0002722_abnormal_immune_system1.43422835
45MP0003191_abnormal_cellular_cholesterol1.42620462
46MP0003075_altered_response_to1.39113093
47MP0005166_decreased_susceptibility_to1.35341188
48MP0003866_abnormal_defecation1.32888696
49MP0009840_abnormal_foam_cell1.31731487
50MP0002006_tumorigenesis1.29888084
51MP0003806_abnormal_nucleotide_metabolis1.28887694
52MP0000465_gastrointestinal_hemorrhage1.21828556
53MP0005451_abnormal_body_composition1.20780905
54MP0002998_abnormal_bone_remodeling1.18586230
55MP0005397_hematopoietic_system_phenotyp1.17847093
56MP0001545_abnormal_hematopoietic_system1.17847093
57MP0009278_abnormal_bone_marrow1.17572588
58MP0000858_altered_metastatic_potential1.13375031
59MP0000343_altered_response_to1.08967973
60MP0004510_myositis1.07857507
61MP0000703_abnormal_thymus_morphology0.98182502
62MP0001663_abnormal_digestive_system0.96642825
63MP0000604_amyloidosis0.96148219
64MP0008260_abnormal_autophagy0.91740652
65MP0002396_abnormal_hematopoietic_system0.90931020
66MP0009763_increased_sensitivity_to0.88862739
67MP0000490_abnormal_crypts_of0.87295648
68MP0003448_altered_tumor_morphology0.87149143
69MP0008004_abnormal_stomach_pH0.85538344
70MP0000249_abnormal_blood_vessel0.79811323
71MP0002933_joint_inflammation0.76294479
72MP0003045_fibrosis0.74612497
73MP0005645_abnormal_hypothalamus_physiol0.73774075
74MP0001851_eye_inflammation0.72738065
75MP0003828_pulmonary_edema0.71363972
76MP0002136_abnormal_kidney_physiology0.70681326
77MP0005075_abnormal_melanosome_morpholog0.70614775
78MP0002132_abnormal_respiratory_system0.70122443
79MP0004808_abnormal_hematopoietic_stem0.65886496
80MP0005360_urolithiasis0.63296895
81MP0005390_skeleton_phenotype0.63067483
82MP0005165_increased_susceptibility_to0.62338368
83MP0009643_abnormal_urine_homeostasis0.61826473
84MP0004883_abnormal_blood_vessel0.61820065
85MP0009765_abnormal_xenobiotic_induced0.61163963
86MP0008874_decreased_physiological_sensi0.59420626
87MP0003091_abnormal_cell_migration0.59168622
88MP0002019_abnormal_tumor_incidence0.58628572
89MP0000015_abnormal_ear_pigmentation0.58368082
90MP0003795_abnormal_bone_structure0.56587332
91MP0003690_abnormal_glial_cell0.54651725
92MP0005381_digestive/alimentary_phenotyp0.54445466
93MP0000609_abnormal_liver_physiology0.54168583
94MP0005167_abnormal_blood-brain_barrier0.53393570
95MP0002693_abnormal_pancreas_physiology0.53224297
96MP0005164_abnormal_response_to0.51939624
97MP0005584_abnormal_enzyme/coenzyme_acti0.51268445
98MP0002277_abnormal_respiratory_mucosa0.50977855
99MP0005535_abnormal_body_temperature0.50676847
100MP0005319_abnormal_enzyme/_coenzyme0.48970677

Predicted human phenotypes

RankGene SetZ-score
1Eczematoid dermatitis (HP:0000976)4.95068126
2Gastrointestinal stroma tumor (HP:0100723)4.88143690
3Agammaglobulinemia (HP:0004432)4.87830719
4Recurrent bacterial skin infections (HP:0005406)4.84047047
5Meningitis (HP:0001287)4.76305833
6Mediastinal lymphadenopathy (HP:0100721)4.64523333
7Recurrent abscess formation (HP:0002722)4.56861459
8Abnormality of macrophages (HP:0004311)4.48581149
9Vasculitis (HP:0002633)4.44969004
10Recurrent sinusitis (HP:0011108)3.95388841
11Chronic obstructive pulmonary disease (HP:0006510)3.91250766
12Obstructive lung disease (HP:0006536)3.91250766
13Abnormal delayed hypersensitivity skin test (HP:0002963)3.86973410
14Systemic lupus erythematosus (HP:0002725)3.85243523
15Pulmonary infiltrates (HP:0002113)3.80637904
16Recurrent fungal infections (HP:0002841)3.74987084
17Elevated erythrocyte sedimentation rate (HP:0003565)3.68618001
18Recurrent bronchitis (HP:0002837)3.68358316
19Colitis (HP:0002583)3.67176504
20Recurrent viral infections (HP:0004429)3.62083317
21Recurrent cutaneous fungal infections (HP:0011370)3.61607766
22Chronic mucocutaneous candidiasis (HP:0002728)3.61607766
23Myositis (HP:0100614)3.60700605
24Recurrent gram-negative bacterial infections (HP:0005420)3.58322385
25Panhypogammaglobulinemia (HP:0003139)3.53673816
26Recurrent skin infections (HP:0001581)3.52197509
27Cellulitis (HP:0100658)3.46177361
28Abnormality of the prostate (HP:0008775)3.40357666
29Retrobulbar optic neuritis (HP:0100654)3.37713318
30Optic neuritis (HP:0100653)3.37713318
31Orchitis (HP:0100796)3.37587762
32Abnormality of glycolipid metabolism (HP:0010969)3.30488201
33Abnormality of liposaccharide metabolism (HP:0010968)3.30488201
34Abnormality of glycosphingolipid metabolism (HP:0004343)3.30488201
35Restrictive lung disease (HP:0002091)3.26620028
36Lymphopenia (HP:0001888)3.26404406
37IgM deficiency (HP:0002850)3.16771356
38Hemoptysis (HP:0002105)3.16043531
39Inflammation of the large intestine (HP:0002037)3.15978862
40Abnormality of cells of the lymphoid lineage (HP:0012140)3.11219355
41Encephalitis (HP:0002383)3.10708167
42* Urticaria (HP:0001025)3.04274695
43Chest pain (HP:0100749)3.03946709
44Chronic diarrhea (HP:0002028)3.02958152
45Emphysema (HP:0002097)3.01535544
46Gastrointestinal inflammation (HP:0004386)3.00416015
47Gastrointestinal infarctions (HP:0005244)3.00407833
48Increased IgE level (HP:0003212)3.00378489
49IgA deficiency (HP:0002720)2.94008627
50Osteomyelitis (HP:0002754)2.91251139
51Abnormality of the pleura (HP:0002103)2.85152917
52Recurrent pneumonia (HP:0006532)2.85149210
53Stomatitis (HP:0010280)2.77016939
54Increased IgM level (HP:0003496)2.76676564
55Increased cerebral lipofuscin (HP:0011813)2.76456130
56Spontaneous hematomas (HP:0007420)2.73535506
57Recurrent lower respiratory tract infections (HP:0002783)2.72278221
58Skin rash (HP:0000988)2.69529182
59Abnormality of T cell physiology (HP:0011840)2.66481820
60Chronic otitis media (HP:0000389)2.64365461
61IgG deficiency (HP:0004315)2.64025701
62Autoimmune thrombocytopenia (HP:0001973)2.57355204
63Petechiae (HP:0000967)2.55564093
64Abnormality of T cells (HP:0002843)2.55341947
65Verrucae (HP:0200043)2.53782263
66Papilloma (HP:0012740)2.53782263
67Gangrene (HP:0100758)2.51005143
68Xerostomia (HP:0000217)2.47845670
69Abnormality of B cell number (HP:0010975)2.47824383
70Increased neuronal autofluorescent lipopigment (HP:0002074)2.45920145
71Pustule (HP:0200039)2.43879075
72Vacuolated lymphocytes (HP:0001922)2.43570518
73Keratoconjunctivitis sicca (HP:0001097)2.43419540
74Pulmonary fibrosis (HP:0002206)2.40965129
75Arthralgia (HP:0002829)2.40920565
76Hypergammaglobulinemia (HP:0010702)2.39584099
77Gingivitis (HP:0000230)2.38610673
78Hypertensive crisis (HP:0100735)2.38101095
79Pulmonary embolism (HP:0002204)2.37674435
80Purpura (HP:0000979)2.34562400
81Premature loss of primary teeth (HP:0006323)2.31339717
82Abnormality of T cell number (HP:0011839)2.29763813
83Epistaxis (HP:0000421)2.26427838
84Keratoconjunctivitis (HP:0001096)2.24945438
85Sepsis (HP:0100806)2.24618078
86Dysostosis multiplex (HP:0000943)2.24299344
87B lymphocytopenia (HP:0010976)2.23583271
88Loss of speech (HP:0002371)2.21659267
89Skin ulcer (HP:0200042)2.21231038
90T lymphocytopenia (HP:0005403)2.19938980
91Arterial thrombosis (HP:0004420)2.19485185
92Autoimmune hemolytic anemia (HP:0001890)2.18235147
93Acrocyanosis (HP:0001063)2.17282124
94Glomerulonephritis (HP:0000099)2.16109838
95Malnutrition (HP:0004395)2.15425109
96Abnormality of the peritoneum (HP:0002585)2.10760098
97Bronchitis (HP:0012387)2.09617771
98Polyneuropathy (HP:0001271)2.09198093
99Viral hepatitis (HP:0006562)2.07937226
100Leukocytosis (HP:0001974)2.07090897

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K14.74100167
2RIPK44.69250006
3BLK3.51971283
4ERN13.02249788
5MAP3K142.90382833
6TYK22.84403435
7IRAK42.57937218
8BMPR22.57083603
9CSF1R2.50813065
10KIT2.44369476
11SYK2.39102075
12TBK12.38242208
13PRPF4B2.30086487
14IKBKE2.24048087
15BTK2.03301229
16JAK32.02478945
17MAP3K132.00943119
18IKBKB1.99964819
19CSK1.81423164
20LYN1.73550224
21JAK11.65375515
22FES1.64732446
23MATK1.58242310
24TLK11.53016422
25SIK31.50098729
26CDK191.43202121
27TXK1.40478358
28TAOK31.35185433
29TNK21.34967635
30HCK1.32596253
31NME21.32479736
32ZAP701.31986431
33MAP2K31.20901607
34TEC1.20635665
35FGR1.19758098
36LCK1.15803304
37ITK1.15292007
38GRK61.11486109
39CDC42BPA1.05126853
40JAK21.04959031
41SIK21.00607313
42MAP3K110.95618787
43PRKCQ0.93907970
44SMG10.93566191
45CHUK0.92288220
46MARK30.90394169
47FGFR40.87468081
48MAP3K30.85315260
49IRAK30.85243764
50GRK70.83623941
51MAP3K10.79045716
52STK100.77451934
53TAOK20.77122603
54MAPK70.75998400
55PDK10.75282249
56TESK20.72978576
57FGFR30.70956003
58PIM10.70812027
59IRAK10.68283773
60NEK90.67097581
61DAPK30.66336098
62HIPK20.64662181
63MAPK120.62855412
64KDR0.57641972
65MAPK110.57062019
66RPS6KA50.54592545
67TAOK10.53113291
68ABL10.52631308
69PDPK10.51363751
70PIK3CG0.51009733
71VRK10.50851746
72MAP3K100.48773001
73EIF2AK30.48071067
74TRPM70.46328188
75DDR20.45811700
76CDK40.45362823
77MST40.43816031
78PRKCD0.43498138
79STK240.43327190
80FYN0.42166241
81BCKDK0.41510958
82LRRK20.39665076
83TGFBR20.39633339
84EPHA30.38212595
85MAPK40.37137954
86ACVR1B0.36980041
87EPHB10.36742069
88MAPKAPK20.34453672
89IRAK20.31513446
90MAP2K20.30753376
91MOS0.30312906
92MAP3K50.28824702
93PIM20.28414091
94EGFR0.27799484
95RPS6KC10.25589422
96RPS6KL10.25589422
97INSR0.25168554
98CDK60.25071938
99ARAF0.25070757
100YES10.23643398

Predicted pathways (KEGG)

RankGene SetZ-score
1* Asthma_Homo sapiens_hsa053105.19245053
2* Allograft rejection_Homo sapiens_hsa053304.95993166
3* Autoimmune thyroid disease_Homo sapiens_hsa053204.62381957
4* Graft-versus-host disease_Homo sapiens_hsa053324.49521946
5* Intestinal immune network for IgA production_Homo sapiens_hsa046724.43109420
6* Type I diabetes mellitus_Homo sapiens_hsa049403.83787002
7* Staphylococcus aureus infection_Homo sapiens_hsa051503.49911013
8* Leishmaniasis_Homo sapiens_hsa051403.08000171
9* Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.97302280
10* Antigen processing and presentation_Homo sapiens_hsa046122.84499929
11* Viral myocarditis_Homo sapiens_hsa054162.80200565
12Primary immunodeficiency_Homo sapiens_hsa053402.35634114
13* Rheumatoid arthritis_Homo sapiens_hsa053232.17629232
14* Systemic lupus erythematosus_Homo sapiens_hsa053222.10282834
15B cell receptor signaling pathway_Homo sapiens_hsa046621.84497071
16* Tuberculosis_Homo sapiens_hsa051521.83464063
17* Toxoplasmosis_Homo sapiens_hsa051451.71947811
18Hematopoietic cell lineage_Homo sapiens_hsa046401.70128753
19* Influenza A_Homo sapiens_hsa051641.63986735
20* Herpes simplex infection_Homo sapiens_hsa051681.57554305
21Osteoclast differentiation_Homo sapiens_hsa043801.54781499
22NF-kappa B signaling pathway_Homo sapiens_hsa040641.50819434
23Toll-like receptor signaling pathway_Homo sapiens_hsa046201.42871696
24* Phagosome_Homo sapiens_hsa041451.28211106
25Other glycan degradation_Homo sapiens_hsa005111.28168343
26* Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.12810727
27Measles_Homo sapiens_hsa051621.00658045
28Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.94404531
29NOD-like receptor signaling pathway_Homo sapiens_hsa046210.93603674
30RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.92936519
31Pertussis_Homo sapiens_hsa051330.92373531
32Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.87294134
33* Epstein-Barr virus infection_Homo sapiens_hsa051690.86624488
34Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.85683465
35Lysosome_Homo sapiens_hsa041420.81011661
36Chemokine signaling pathway_Homo sapiens_hsa040620.79336082
37Malaria_Homo sapiens_hsa051440.78467384
38TNF signaling pathway_Homo sapiens_hsa046680.77547135
39Legionellosis_Homo sapiens_hsa051340.73806458
40T cell receptor signaling pathway_Homo sapiens_hsa046600.72472649
41Jak-STAT signaling pathway_Homo sapiens_hsa046300.69431753
42Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.69218199
43African trypanosomiasis_Homo sapiens_hsa051430.66918205
44Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.64333100
45Hepatitis C_Homo sapiens_hsa051600.59153965
46Hepatitis B_Homo sapiens_hsa051610.55996222
47* HTLV-I infection_Homo sapiens_hsa051660.55810562
48Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.52890619
49Apoptosis_Homo sapiens_hsa042100.51721113
50Viral carcinogenesis_Homo sapiens_hsa052030.51391940
51Salmonella infection_Homo sapiens_hsa051320.51005717
52Acute myeloid leukemia_Homo sapiens_hsa052210.48450303
53Transcriptional misregulation in cancer_Homo sapiens_hsa052020.46425857
54Shigellosis_Homo sapiens_hsa051310.45195653
55Leukocyte transendothelial migration_Homo sapiens_hsa046700.39774829
56Alcoholism_Homo sapiens_hsa050340.37909612
57Platelet activation_Homo sapiens_hsa046110.37903862
58Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.37862324
59Glycosaminoglycan degradation_Homo sapiens_hsa005310.37079638
60Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.35031714
61SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33125019
62Carbohydrate digestion and absorption_Homo sapiens_hsa049730.31694860
63Renin-angiotensin system_Homo sapiens_hsa046140.25695010
64alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.22935806
65Prolactin signaling pathway_Homo sapiens_hsa049170.19903821
66Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.18559343
67Sphingolipid signaling pathway_Homo sapiens_hsa040710.18321372
68Arachidonic acid metabolism_Homo sapiens_hsa005900.16553436
69Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.12720174
70Neurotrophin signaling pathway_Homo sapiens_hsa047220.12386049
71VEGF signaling pathway_Homo sapiens_hsa043700.11712344
72Adipocytokine signaling pathway_Homo sapiens_hsa049200.11497896
73AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.11203196
74Fructose and mannose metabolism_Homo sapiens_hsa000510.10166159
75Cyanoamino acid metabolism_Homo sapiens_hsa004600.08930923
76Complement and coagulation cascades_Homo sapiens_hsa046100.07617992
77Pancreatic cancer_Homo sapiens_hsa052120.07564674
78HIF-1 signaling pathway_Homo sapiens_hsa040660.06462144
79Non-small cell lung cancer_Homo sapiens_hsa052230.05381809
80Linoleic acid metabolism_Homo sapiens_hsa005910.04889875
81Collecting duct acid secretion_Homo sapiens_hsa049660.04833510
82Sphingolipid metabolism_Homo sapiens_hsa006000.04542066
83Ether lipid metabolism_Homo sapiens_hsa005650.04243606
84Endocytosis_Homo sapiens_hsa041440.04116328
85Vitamin digestion and absorption_Homo sapiens_hsa049770.03559362
86Glycerophospholipid metabolism_Homo sapiens_hsa005640.02470641
87Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.02245838
88Fat digestion and absorption_Homo sapiens_hsa049750.02185758
89Amoebiasis_Homo sapiens_hsa051460.01487771
90Galactose metabolism_Homo sapiens_hsa000520.01149516
91PPAR signaling pathway_Homo sapiens_hsa03320-0.0480422
92Bacterial invasion of epithelial cells_Homo sapiens_hsa05100-0.0467941
93Bladder cancer_Homo sapiens_hsa05219-0.0424283
94Phospholipase D signaling pathway_Homo sapiens_hsa04072-0.0291119
95Pentose phosphate pathway_Homo sapiens_hsa00030-0.0208801
96Insulin resistance_Homo sapiens_hsa04931-0.0192353
97Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601-0.0150040
98Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532-0.0143216
99GnRH signaling pathway_Homo sapiens_hsa04912-0.0130793
100Tryptophan metabolism_Homo sapiens_hsa00380-0.0042573

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