HLA-B

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-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G6.49465142
2* antigen processing and presentation of endogenous peptide antigen (GO:0002483)6.34676495
3* negative regulation of cell killing (GO:0031342)6.24742816
4* negative regulation of leukocyte mediated cytotoxicity (GO:0001911)6.24742816
5* antigen processing and presentation of endogenous antigen (GO:0019883)6.14288727
6positive regulation of gamma-delta T cell activation (GO:0046645)5.90043767
7* antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.72411498
8positive regulation by organism of defense response of other organism involved in symbiotic interact5.14338827
9modulation by symbiont of host immune response (GO:0052553)5.14338827
10positive regulation by symbiont of host defense response (GO:0052509)5.14338827
11modulation by symbiont of host defense response (GO:0052031)5.14338827
12modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.14338827
13modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.14338827
14regulation of B cell receptor signaling pathway (GO:0050855)4.84489057
15neutrophil activation involved in immune response (GO:0002283)4.50958397
16* detection of other organism (GO:0098543)4.46288906
17macrophage activation involved in immune response (GO:0002281)4.43283543
18leukocyte aggregation (GO:0070486)4.42317087
19* detection of bacterium (GO:0016045)4.37085569
20positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.36289701
21regulation of gamma-delta T cell activation (GO:0046643)4.32995189
22immunoglobulin mediated immune response (GO:0016064)4.23208743
23response to interleukin-15 (GO:0070672)4.15790801
24response to peptidoglycan (GO:0032494)4.13100013
25negative regulation of interleukin-12 production (GO:0032695)4.11521799
26* type I interferon signaling pathway (GO:0060337)4.07981860
27* cellular response to type I interferon (GO:0071357)4.07981860
28* response to type I interferon (GO:0034340)4.05334770
29* negative regulation of lymphocyte mediated immunity (GO:0002707)3.94478540
30regulation of gamma-delta T cell differentiation (GO:0045586)3.86784006
31cellular response to interleukin-15 (GO:0071350)3.85815151
32negative thymic T cell selection (GO:0045060)3.83302896
33regulation of interferon-beta biosynthetic process (GO:0045357)3.82678502
34cellular extravasation (GO:0045123)3.78588904
35negative T cell selection (GO:0043383)3.73802252
36respiratory burst (GO:0045730)3.69458491
37negative regulation of T cell mediated immunity (GO:0002710)3.68907532
38* detection of external biotic stimulus (GO:0098581)3.68605535
39antigen processing and presentation via MHC class Ib (GO:0002475)3.67248178
40positive thymic T cell selection (GO:0045059)3.65150818
41B cell receptor signaling pathway (GO:0050853)3.61034217
42* negative regulation of leukocyte mediated immunity (GO:0002704)3.60710527
43* interferon-gamma-mediated signaling pathway (GO:0060333)3.58371116
44neutrophil activation (GO:0042119)3.57347737
45response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.52240632
46response to host immune response (GO:0052572)3.52240632
47regulation of dendritic cell antigen processing and presentation (GO:0002604)3.49677160
48positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.45833778
49detection of molecule of bacterial origin (GO:0032490)3.43388160
50T cell migration (GO:0072678)3.43001896
51positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.39227885
52myeloid cell activation involved in immune response (GO:0002275)3.32699986
53B cell mediated immunity (GO:0019724)3.32341677
54tolerance induction (GO:0002507)3.32284970
55granulocyte activation (GO:0036230)3.31456480
56regulation of B cell differentiation (GO:0045577)3.31210155
57regulation of mast cell degranulation (GO:0043304)3.30192488
58response to host (GO:0075136)3.29397209
59response to host defenses (GO:0052200)3.29397209
60response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.29397209
61germinal center formation (GO:0002467)3.29159763
62negative regulation of erythrocyte differentiation (GO:0045647)3.28777199
63defense response to protozoan (GO:0042832)3.28040492
64regulation of alpha-beta T cell proliferation (GO:0046640)3.27962452
65response to muramyl dipeptide (GO:0032495)3.25940832
66negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.25514475
67positive regulation of B cell differentiation (GO:0045579)3.24137950
68T cell selection (GO:0045058)3.22998859
69thymic T cell selection (GO:0045061)3.21185998
70microglial cell activation (GO:0001774)3.20772976
71leukocyte migration involved in inflammatory response (GO:0002523)3.18521889
72* detection of biotic stimulus (GO:0009595)3.18354121
73* regulation of T cell mediated cytotoxicity (GO:0001914)3.18305503
74regulation of antigen processing and presentation (GO:0002577)3.17273938
75negative regulation of phagocytosis (GO:0050765)3.14881820
76positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.12606348
77positive T cell selection (GO:0043368)3.12259788
78NIK/NF-kappaB signaling (GO:0038061)3.10965272
79* positive regulation of T cell mediated cytotoxicity (GO:0001916)3.07115422
80macrophage activation (GO:0042116)3.06871514
81regulation of myeloid leukocyte mediated immunity (GO:0002886)3.02764817
82regulation of regulatory T cell differentiation (GO:0045589)3.02525006
83positive regulation of antigen processing and presentation (GO:0002579)3.02145555
84* regulation of natural killer cell mediated immunity (GO:0002715)3.01892552
85* regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.01892552
86regulation of mast cell activation involved in immune response (GO:0033006)3.00418440
87regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.99772675
88positive regulation of tolerance induction (GO:0002645)2.98703456
89response to protozoan (GO:0001562)2.98584813
90regulation of leukocyte degranulation (GO:0043300)2.96785515
91production of molecular mediator involved in inflammatory response (GO:0002532)2.96392422
92* regulation of T cell tolerance induction (GO:0002664)2.96360112
93negative regulation of cytokine production involved in immune response (GO:0002719)2.90876056
94positive regulation of mast cell activation (GO:0033005)2.90395296
95dendritic cell chemotaxis (GO:0002407)2.87698290
96positive regulation of interferon-alpha production (GO:0032727)2.87089308
97lipopolysaccharide-mediated signaling pathway (GO:0031663)2.86058068
98neutrophil mediated immunity (GO:0002446)2.85972626
99activated T cell proliferation (GO:0050798)2.85805830
100negative regulation of alpha-beta T cell activation (GO:0046636)2.85279178

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* IRF8_22096565_ChIP-ChIP_GC-B_Human5.63869646
2BP1_19119308_ChIP-ChIP_Hs578T_Human4.47755640
3STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.90455608
4IRF8_21731497_ChIP-ChIP_J774_Mouse3.89114301
5FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.58220349
6MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.41357946
7IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.35139977
8SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.00334901
9IRF8_27001747_Chip-Seq_BMDM_Mouse2.90764894
10VDR_21846776_ChIP-Seq_THP-1_Human2.86936823
11IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.86874436
12NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.66841223
13RUNX_20019798_ChIP-Seq_JUKART_Human2.62934798
14VDR_24763502_ChIP-Seq_THP-1_Human2.57077605
15MYC_22102868_ChIP-Seq_BL_Human2.55130661
16MAF_26560356_Chip-Seq_TH1_Human2.55032548
17STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.54197230
18SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.53709220
19SPI1_23547873_ChIP-Seq_NB4_Human2.44114179
20MYB_21317192_ChIP-Seq_ERMYB_Mouse2.42358216
21RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.39235378
22MYB_26560356_Chip-Seq_TH2_Human2.38415765
23STAT4_19710469_ChIP-ChIP_TH1__Mouse2.37281460
24E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.32794929
25NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.31064969
26SPI1_23127762_ChIP-Seq_K562_Human2.25333237
27UTX_26944678_Chip-Seq_JUKART_Human2.22474640
28RUNX1_22412390_ChIP-Seq_EML_Mouse2.18989344
29VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.17263702
30FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.16119699
31MYB_26560356_Chip-Seq_TH1_Human2.09430715
32KDM2B_26808549_Chip-Seq_SUP-B15_Human2.07871582
33BRD4_27068464_Chip-Seq_AML-cells_Mouse2.05496096
34TCF7_22412390_ChIP-Seq_EML_Mouse2.02319583
35* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.00261657
36EGR1_19374776_ChIP-ChIP_THP-1_Human1.96611992
37SCL_19346495_ChIP-Seq_HPC-7_Human1.92631837
38MAF_26560356_Chip-Seq_TH2_Human1.91965455
39NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.87124552
40KDM2B_26808549_Chip-Seq_DND41_Human1.80914635
41KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.79843861
42MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.76409301
43THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.76081840
44GATA3_27048872_Chip-Seq_THYMUS_Human1.63871077
45KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.63741026
46ELK3_25401928_ChIP-Seq_HUVEC_Human1.58638004
47LXR_22292898_ChIP-Seq_THP-1_Human1.57502837
48Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.55486073
49VDR_24787735_ChIP-Seq_THP-1_Human1.51672005
50CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.50270806
51LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.47202990
52SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.45859970
53SMAD_19615063_ChIP-ChIP_OVARY_Human1.44993825
54TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.43924301
55FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.42628959
56GATA1_19941827_ChIP-Seq_MEL_Mouse1.40346123
57CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.34333075
58GATA2_22383799_ChIP-Seq_G1ME_Mouse1.33629307
59LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.32282453
60PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.29890868
61TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.28493351
62PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.27605987
63GATA1_22383799_ChIP-Seq_G1ME_Mouse1.23633282
64GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.23366234
65KDM2B_26808549_Chip-Seq_JURKAT_Human1.23307486
66CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.23004438
67ELF1_17652178_ChIP-ChIP_JURKAT_Human1.21082149
68GATA3_26560356_Chip-Seq_TH2_Human1.19739122
69CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.18476463
70PU_27001747_Chip-Seq_BMDM_Mouse1.18336750
71GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.17670135
72ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.17359438
73PU.1_20513432_ChIP-Seq_Bcells_Mouse1.16881107
74BCL6_27268052_Chip-Seq_Bcells_Human1.16332933
75PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.16270629
76SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.16259565
77SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.14408131
78CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.13152480
79BCOR_27268052_Chip-Seq_Bcells_Human1.11605659
80STAT6_21828071_ChIP-Seq_BEAS2B_Human1.10547999
81GATA1_19941826_ChIP-Seq_K562_Human1.10025432
82IKZF1_21737484_ChIP-ChIP_HCT116_Human1.09004234
83VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.05739973
84SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.01479286
85GATA1_22025678_ChIP-Seq_K562_Human1.01315402
86CTCF_27219007_Chip-Seq_ERYTHROID_Human0.99093943
87NCOR1_26117541_ChIP-Seq_K562_Human0.94766273
88RACK7_27058665_Chip-Seq_MCF-7_Human0.94597942
89GATA2_21666600_ChIP-Seq_HMVEC_Human0.94551131
90TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.94265105
91NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.93892846
92SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92622213
93SA1_27219007_Chip-Seq_ERYTHROID_Human0.92615188
94GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92394221
95STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.90474988
96STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.89649800
97ELF1_20517297_ChIP-Seq_JURKAT_Human0.88142294
98PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.86547870
99CIITA_25753668_ChIP-Seq_RAJI_Human0.86212432
100TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.85462045

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003724_increased_susceptibility_to4.31891042
2MP0003436_decreased_susceptibility_to4.18482033
3MP0001835_abnormal_antigen_presentation3.97166828
4MP0003303_peritoneal_inflammation3.68528440
5MP0005671_abnormal_response_to3.40746027
6MP0005387_immune_system_phenotype3.14342117
7MP0001790_abnormal_immune_system3.14342117
8MP0001800_abnormal_humoral_immune3.11817477
9MP0000685_abnormal_immune_system3.08807148
10MP0005000_abnormal_immune_tolerance3.00726913
11MP0002419_abnormal_innate_immunity2.96380596
12MP0005025_abnormal_response_to2.94452602
13MP0009785_altered_susceptibility_to2.94329911
14MP0003763_abnormal_thymus_physiology2.73616206
15MP0006082_CNS_inflammation2.72250289
16MP0002723_abnormal_immune_serum2.69869393
17MP0002452_abnormal_antigen_presenting2.62635271
18MP0002420_abnormal_adaptive_immunity2.60486158
19MP0003300_gastrointestinal_ulcer2.59756187
20MP0001819_abnormal_immune_cell2.57868318
21MP0002148_abnormal_hypersensitivity_rea2.40986482
22MP0010155_abnormal_intestine_physiology2.16292023
23MP0001533_abnormal_skeleton_physiology2.08818834
24MP0003191_abnormal_cellular_cholesterol2.08140384
25MP0002405_respiratory_system_inflammati2.05945399
26MP0009333_abnormal_splenocyte_physiolog2.01694417
27MP0002398_abnormal_bone_marrow2.00345061
28MP0000716_abnormal_immune_system1.97843776
29MP0005464_abnormal_platelet_physiology1.88779588
30MP0004947_skin_inflammation1.87465038
31MP0001845_abnormal_inflammatory_respons1.84675096
32MP0003866_abnormal_defecation1.75393160
33MP0008260_abnormal_autophagy1.68202676
34MP0000689_abnormal_spleen_morphology1.63448989
35MP0003172_abnormal_lysosome_physiology1.62355562
36MP0002722_abnormal_immune_system1.61196482
37MP0000465_gastrointestinal_hemorrhage1.58554972
38MP0002429_abnormal_blood_cell1.55788548
39MP0005451_abnormal_body_composition1.51692601
40MP0002132_abnormal_respiratory_system1.51456179
41MP0000703_abnormal_thymus_morphology1.50490738
42MP0008469_abnormal_protein_level1.50063123
43MP0003183_abnormal_peptide_metabolism1.49706871
44MP0005310_abnormal_salivary_gland1.48021404
45MP0009278_abnormal_bone_marrow1.46647516
46MP0002396_abnormal_hematopoietic_system1.45398218
47MP0004510_myositis1.44314434
48MP0001873_stomach_inflammation1.42922587
49MP0000858_altered_metastatic_potential1.38580438
50MP0003828_pulmonary_edema1.35105276
51MP0009764_decreased_sensitivity_to1.34937118
52MP0005058_abnormal_lysosome_morphology1.33066450
53MP0002166_altered_tumor_susceptibility1.30040400
54MP0002998_abnormal_bone_remodeling1.29316637
55MP0001851_eye_inflammation1.25311577
56MP0004381_abnormal_hair_follicle1.24366556
57MP0002277_abnormal_respiratory_mucosa1.19862870
58MP0003075_altered_response_to1.17628065
59MP0002138_abnormal_hepatobiliary_system1.13797320
60MP0004883_abnormal_blood_vessel1.12810550
61MP0005166_decreased_susceptibility_to1.10524698
62MP0001545_abnormal_hematopoietic_system1.03698852
63MP0005397_hematopoietic_system_phenotyp1.03698852
64MP0001853_heart_inflammation1.01095344
65MP0002933_joint_inflammation1.00607878
66MP0000490_abnormal_crypts_of0.98814097
67MP0003448_altered_tumor_morphology0.98741856
68MP0003690_abnormal_glial_cell0.97943263
69MP0001663_abnormal_digestive_system0.95141914
70MP0009840_abnormal_foam_cell0.93806229
71MP0000343_altered_response_to0.92820303
72MP0000604_amyloidosis0.92620054
73MP0005164_abnormal_response_to0.92032623
74MP0005390_skeleton_phenotype0.87369469
75MP0009763_increased_sensitivity_to0.86981287
76MP0002006_tumorigenesis0.83115578
77MP0003045_fibrosis0.80281746
78MP0008004_abnormal_stomach_pH0.76255240
79MP0003091_abnormal_cell_migration0.74554731
80MP0004808_abnormal_hematopoietic_stem0.72337800
81MP0003806_abnormal_nucleotide_metabolis0.71425124
82MP0000249_abnormal_blood_vessel0.68952658
83MP0003795_abnormal_bone_structure0.68724198
84MP0005075_abnormal_melanosome_morpholog0.66766742
85MP0008874_decreased_physiological_sensi0.65044544
86MP0009765_abnormal_xenobiotic_induced0.62051325
87MP0003453_abnormal_keratinocyte_physiol0.58795543
88MP0005381_digestive/alimentary_phenotyp0.55279409
89MP0002254_reproductive_system_inflammat0.52541064
90MP0001986_abnormal_taste_sensitivity0.51314704
91MP0002019_abnormal_tumor_incidence0.50597627
92MP0002693_abnormal_pancreas_physiology0.49691006
93MP0000609_abnormal_liver_physiology0.49258951
94MP0000015_abnormal_ear_pigmentation0.47584048
95MP0005319_abnormal_enzyme/_coenzyme0.47547480
96MP0004858_abnormal_nervous_system0.46246114
97MP0003656_abnormal_erythrocyte_physiolo0.45987500
98MP0003221_abnormal_cardiomyocyte_apopto0.45234641
99MP0000920_abnormal_myelination0.43657008
100MP0001958_emphysema0.42718897

Predicted human phenotypes

RankGene SetZ-score
1Eczematoid dermatitis (HP:0000976)6.95457769
2Recurrent abscess formation (HP:0002722)5.72759152
3Recurrent bacterial skin infections (HP:0005406)5.65466997
4Abnormality of macrophages (HP:0004311)5.44497589
5Elevated erythrocyte sedimentation rate (HP:0003565)4.82627512
6* Myositis (HP:0100614)4.80372102
7Recurrent gram-negative bacterial infections (HP:0005420)4.68829918
8Stomatitis (HP:0010280)4.57824519
9Mediastinal lymphadenopathy (HP:0100721)4.38382373
10Recurrent fungal infections (HP:0002841)4.30468067
11Abnormal delayed hypersensitivity skin test (HP:0002963)4.20618548
12* Orchitis (HP:0100796)4.19442410
13* Meningitis (HP:0001287)4.12032069
14Obstructive lung disease (HP:0006536)4.04047397
15Chronic obstructive pulmonary disease (HP:0006510)4.04047397
16Increased IgE level (HP:0003212)3.86249964
17Recurrent skin infections (HP:0001581)3.85871508
18* Retrobulbar optic neuritis (HP:0100654)3.69722617
19* Optic neuritis (HP:0100653)3.69722617
20Recurrent cutaneous fungal infections (HP:0011370)3.64622696
21Chronic mucocutaneous candidiasis (HP:0002728)3.64622696
22* Vasculitis (HP:0002633)3.63982605
23Spontaneous hematomas (HP:0007420)3.62136723
24T lymphocytopenia (HP:0005403)3.51981564
25Cellulitis (HP:0100658)3.51090743
26Gingivitis (HP:0000230)3.47823287
27Urticaria (HP:0001025)3.39202772
28Abnormality of T cell number (HP:0011839)3.37990668
29Recurrent viral infections (HP:0004429)3.35379052
30* Encephalitis (HP:0002383)3.34073248
31Panhypogammaglobulinemia (HP:0003139)3.17048420
32Inflammation of the large intestine (HP:0002037)3.13636214
33Pustule (HP:0200039)3.10322717
34Gastrointestinal inflammation (HP:0004386)3.06708891
35Increased IgM level (HP:0003496)2.99938515
36Abnormality of T cells (HP:0002843)2.99759253
37Prolonged bleeding time (HP:0003010)2.99645945
38* Pulmonary infiltrates (HP:0002113)2.92342428
39Lymphopenia (HP:0001888)2.89739650
40Colitis (HP:0002583)2.88676784
41* Gastrointestinal infarctions (HP:0005244)2.88314194
42Agammaglobulinemia (HP:0004432)2.86919763
43Leukocytosis (HP:0001974)2.84647603
44Recurrent bronchitis (HP:0002837)2.84438794
45Gastrointestinal stroma tumor (HP:0100723)2.82074293
46Abnormality of cells of the lymphoid lineage (HP:0012140)2.74534873
47Granulocytopenia (HP:0001913)2.71949757
48* Chest pain (HP:0100749)2.71051052
49* Hemoptysis (HP:0002105)2.69850025
50Osteomyelitis (HP:0002754)2.69454308
51* Keratoconjunctivitis sicca (HP:0001097)2.64516942
52Epistaxis (HP:0000421)2.61779365
53Hypergammaglobulinemia (HP:0010702)2.61124933
54Episodic fever (HP:0001954)2.61099589
55Chronic otitis media (HP:0000389)2.60487290
56Petechiae (HP:0000967)2.58556982
57Abnormality of T cell physiology (HP:0011840)2.55959281
58Gingival bleeding (HP:0000225)2.55252745
59Hypochromic anemia (HP:0001931)2.49433293
60IgM deficiency (HP:0002850)2.48070497
61Nasal polyposis (HP:0100582)2.47197334
62* Keratoconjunctivitis (HP:0001096)2.40677323
63Recurrent sinusitis (HP:0011108)2.39401787
64Amyloidosis (HP:0011034)2.37633894
65Purpura (HP:0000979)2.34000572
66Peritonitis (HP:0002586)2.32669258
67Abnormality of glycosphingolipid metabolism (HP:0004343)2.30377203
68Abnormality of glycolipid metabolism (HP:0010969)2.30377203
69Abnormality of liposaccharide metabolism (HP:0010968)2.30377203
70Loss of speech (HP:0002371)2.29036046
71Eosinophilia (HP:0001880)2.28186932
72Autoimmune hemolytic anemia (HP:0001890)2.26374987
73Abnormality of the nasal mucosa (HP:0000433)2.25137941
74* Pulmonary embolism (HP:0002204)2.24911956
75Premature loss of primary teeth (HP:0006323)2.23353374
76* Sepsis (HP:0100806)2.20966119
77Systemic lupus erythematosus (HP:0002725)2.20345658
78Increased cerebral lipofuscin (HP:0011813)2.19761492
79Recurrent pneumonia (HP:0006532)2.18274197
80Abnormality of the peritoneum (HP:0002585)2.17859748
81Papilloma (HP:0012740)2.17580001
82Verrucae (HP:0200043)2.17580001
83Emphysema (HP:0002097)2.15813783
84Hepatosplenomegaly (HP:0001433)2.15153095
85* Skin ulcer (HP:0200042)2.15134129
86Malnutrition (HP:0004395)2.15088921
87Chronic diarrhea (HP:0002028)2.14980165
88* Abnormality of the pleura (HP:0002103)2.13680446
89Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.08589601
90Autoimmune thrombocytopenia (HP:0001973)2.07961560
91Increased serum ferritin (HP:0003281)2.07665672
92Skin rash (HP:0000988)2.06584406
93* Arterial thrombosis (HP:0004420)2.05517081
94Recurrent lower respiratory tract infections (HP:0002783)2.04779082
95Viral hepatitis (HP:0006562)2.04694198
96* Anorexia (HP:0002039)2.04548438
97Hypochromic microcytic anemia (HP:0004840)2.02145544
98Joint swelling (HP:0001386)2.00410616
99Dysostosis multiplex (HP:0000943)1.98085074
100Slow saccadic eye movements (HP:0000514)1.97352891

Predicted kinase interactions (KEA)

RankGene SetZ-score
1RIPK44.46062308
2MAP4K14.34908274
3ERN13.18510652
4TYK23.06071362
5PRPF4B2.94771604
6IRAK42.80014622
7BLK2.74762633
8CSK2.54010330
9MAP2K32.37515688
10FES2.27831923
11ZAP702.12022659
12TNK22.08057033
13TXK2.04730766
14EPHB12.01069488
15GRK61.99087884
16JAK31.93324747
17MAP3K141.90013145
18BTK1.87411232
19IKBKE1.84395047
20TBK11.75986868
21MAP3K131.70808330
22SYK1.66918517
23JAK11.65548501
24HCK1.65315456
25MAP3K31.63705034
26TAOK11.57934096
27SIK31.57038900
28MAP3K111.54671359
29FGR1.43645620
30LYN1.35624977
31TRIB31.30268486
32JAK21.30133525
33KIT1.24819706
34ITK1.23486581
35FGFR41.22284468
36CSF1R1.21252720
37TAOK31.20903419
38* LCK1.20806414
39SMG11.20351251
40MAP3K11.18886398
41SIK21.05308071
42IKBKB1.04026335
43MARK31.03162103
44KSR21.01015641
45TAOK20.98015763
46TESK20.95944815
47STK100.94398370
48PTK60.91425301
49MARK20.89621732
50PRKD20.89096227
51YES10.88950434
52MATK0.87111005
53CDC42BPA0.86927542
54PDK10.86738911
55TEC0.84078925
56FGFR30.83662155
57SIK10.81404090
58BMPR20.79207204
59IRAK10.78931879
60TGFBR20.72187095
61PDPK10.71545308
62MAPK120.69491312
63HIPK20.68958949
64PRKCQ0.67796050
65EPHA30.67617671
66LRRK20.67408314
67MAPK70.64565736
68FYN0.64177359
69MAP3K70.62195645
70NLK0.60036631
71CDK190.58913605
72IRAK20.58833328
73MAP3K100.54139929
74CAMKK10.51343514
75GRK70.49716163
76DYRK1B0.49490166
77PIM10.49267620
78MAP3K60.48646672
79IRAK30.48042463
80RIPK10.45313288
81RPS6KL10.43125098
82RPS6KC10.43125098
83MAPK110.42496461
84MAP3K50.40239011
85RET0.40169651
86MAPKAPK20.38518068
87CDK40.38140052
88PTK2B0.36906942
89STK110.36847808
90MAP2K60.36567389
91PRKCH0.35658160
92CAMKK20.35323541
93MAP3K20.34732569
94RPS6KA60.33745766
95STK380.32585934
96SGK30.32513509
97PRKG20.29842503
98CHUK0.29809553
99MAP3K80.29208492
100PIK3CG0.27408409

Predicted pathways (KEGG)

RankGene SetZ-score
1* Allograft rejection_Homo sapiens_hsa053303.01071745
2* Graft-versus-host disease_Homo sapiens_hsa053322.93101303
3Leishmaniasis_Homo sapiens_hsa051402.90943865
4* Autoimmune thyroid disease_Homo sapiens_hsa053202.81310249
5Staphylococcus aureus infection_Homo sapiens_hsa051502.78755694
6Osteoclast differentiation_Homo sapiens_hsa043802.74719022
7Primary immunodeficiency_Homo sapiens_hsa053402.70098025
8B cell receptor signaling pathway_Homo sapiens_hsa046622.30191423
9* Type I diabetes mellitus_Homo sapiens_hsa049402.19735017
10Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.19731643
11* Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.18175694
12* Antigen processing and presentation_Homo sapiens_hsa046122.06448750
13Intestinal immune network for IgA production_Homo sapiens_hsa046722.05143828
14Tuberculosis_Homo sapiens_hsa051521.99330594
15Toll-like receptor signaling pathway_Homo sapiens_hsa046201.96844444
16Asthma_Homo sapiens_hsa053101.93676482
17* Viral myocarditis_Homo sapiens_hsa054161.89694605
18Measles_Homo sapiens_hsa051621.86066157
19Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.83763966
20NF-kappa B signaling pathway_Homo sapiens_hsa040641.81474606
21T cell receptor signaling pathway_Homo sapiens_hsa046601.76035003
22Hematopoietic cell lineage_Homo sapiens_hsa046401.70989688
23Toxoplasmosis_Homo sapiens_hsa051451.64001240
24Influenza A_Homo sapiens_hsa051641.63690605
25Acute myeloid leukemia_Homo sapiens_hsa052211.63052685
26NOD-like receptor signaling pathway_Homo sapiens_hsa046211.57514091
27Chemokine signaling pathway_Homo sapiens_hsa040621.55031120
28Malaria_Homo sapiens_hsa051441.54156036
29* Herpes simplex infection_Homo sapiens_hsa051681.53072236
30RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.50138574
31Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.48494216
32Other glycan degradation_Homo sapiens_hsa005111.47310725
33Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.36956229
34Jak-STAT signaling pathway_Homo sapiens_hsa046301.33502738
35TNF signaling pathway_Homo sapiens_hsa046681.32662802
36Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.27275319
37* Phagosome_Homo sapiens_hsa041451.26866673
38Rheumatoid arthritis_Homo sapiens_hsa053231.22103053
39Legionellosis_Homo sapiens_hsa051341.21625503
40Hepatitis C_Homo sapiens_hsa051601.17875858
41Leukocyte transendothelial migration_Homo sapiens_hsa046701.16266301
42Hepatitis B_Homo sapiens_hsa051611.14268166
43Pertussis_Homo sapiens_hsa051331.07421534
44African trypanosomiasis_Homo sapiens_hsa051431.04759471
45Non-small cell lung cancer_Homo sapiens_hsa052231.03817668
46Apoptosis_Homo sapiens_hsa042100.97045804
47Platelet activation_Homo sapiens_hsa046110.94727414
48Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.93775643
49Pancreatic cancer_Homo sapiens_hsa052120.93577848
50Shigellosis_Homo sapiens_hsa051310.93517093
51Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.91549986
52* Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.89994797
53VEGF signaling pathway_Homo sapiens_hsa043700.87809265
54Salmonella infection_Homo sapiens_hsa051320.87799842
55Chronic myeloid leukemia_Homo sapiens_hsa052200.86702186
56Lysosome_Homo sapiens_hsa041420.81023264
57Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.77966874
58Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.77928643
59* Epstein-Barr virus infection_Homo sapiens_hsa051690.77813857
60Prolactin signaling pathway_Homo sapiens_hsa049170.76991301
61AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.75042379
62Neurotrophin signaling pathway_Homo sapiens_hsa047220.71287819
63Renal cell carcinoma_Homo sapiens_hsa052110.69401777
64* Viral carcinogenesis_Homo sapiens_hsa052030.68254186
65* Endocytosis_Homo sapiens_hsa041440.66418459
66Sphingolipid signaling pathway_Homo sapiens_hsa040710.64817403
67* HTLV-I infection_Homo sapiens_hsa051660.64510117
68Carbohydrate digestion and absorption_Homo sapiens_hsa049730.63959162
69Notch signaling pathway_Homo sapiens_hsa043300.62049872
70Adipocytokine signaling pathway_Homo sapiens_hsa049200.60099992
71Phospholipase D signaling pathway_Homo sapiens_hsa040720.59096125
72Phosphatidylinositol signaling system_Homo sapiens_hsa040700.52820314
73FoxO signaling pathway_Homo sapiens_hsa040680.52035762
74Endometrial cancer_Homo sapiens_hsa052130.51722469
75Glycosaminoglycan degradation_Homo sapiens_hsa005310.51489064
76Choline metabolism in cancer_Homo sapiens_hsa052310.50449616
77SNARE interactions in vesicular transport_Homo sapiens_hsa041300.49267906
78Amoebiasis_Homo sapiens_hsa051460.49135938
79GnRH signaling pathway_Homo sapiens_hsa049120.47676147
80Insulin resistance_Homo sapiens_hsa049310.45691865
81Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.45121719
82Colorectal cancer_Homo sapiens_hsa052100.44812194
83HIF-1 signaling pathway_Homo sapiens_hsa040660.43729494
84Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.43523828
85Transcriptional misregulation in cancer_Homo sapiens_hsa052020.39145319
86mTOR signaling pathway_Homo sapiens_hsa041500.38415999
87Inositol phosphate metabolism_Homo sapiens_hsa005620.38245738
88MAPK signaling pathway_Homo sapiens_hsa040100.38134460
89Systemic lupus erythematosus_Homo sapiens_hsa053220.37288504
90Dorso-ventral axis formation_Homo sapiens_hsa043200.37274123
91Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.36871429
92Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.35490331
93Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.35330655
94Glycerophospholipid metabolism_Homo sapiens_hsa005640.34442057
95Rap1 signaling pathway_Homo sapiens_hsa040150.31583293
96Type II diabetes mellitus_Homo sapiens_hsa049300.31327583
97Prostate cancer_Homo sapiens_hsa052150.29334834
98ErbB signaling pathway_Homo sapiens_hsa040120.27509820
99Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.26053735
100Regulation of autophagy_Homo sapiens_hsa041400.22975110

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