APOBEC3H

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 apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3 family of proteins. The encoded protein is a cytidine deaminase that has antiretroviral activity by generating lethal hypermutations in viral genomes. Polymorphisms and alternative splicing in this gene influence its antiretroviral activity and are associated with increased resistence to human immunodeficiency virus type 1 infection in certain populations. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* cytidine metabolic process (GO:0046087)8.67150937
2* cytidine catabolic process (GO:0006216)8.67150937
3* cytidine deamination (GO:0009972)8.67150937
4* pyrimidine ribonucleoside catabolic process (GO:0046133)7.64711197
5* regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450917.29623111
6* DNA deamination (GO:0045006)7.13594339
7T cell migration (GO:0072678)5.97958389
8cellular response to interleukin-15 (GO:0071350)5.33376766
9positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)5.32238066
10negative T cell selection (GO:0043383)5.26699980
11positive regulation of gamma-delta T cell activation (GO:0046645)5.02744259
12regulation of B cell receptor signaling pathway (GO:0050855)5.00158470
13positive thymic T cell selection (GO:0045059)4.79548933
14positive T cell selection (GO:0043368)4.79312847
15negative thymic T cell selection (GO:0045060)4.54366524
16response to interleukin-15 (GO:0070672)4.51978050
17Arp2/3 complex-mediated actin nucleation (GO:0034314)4.42349304
18antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.34202623
19* negative regulation of viral genome replication (GO:0045071)4.32907271
20positive regulation of B cell differentiation (GO:0045579)4.26480517
21regulation of B cell differentiation (GO:0045577)4.22674451
22thymic T cell selection (GO:0045061)4.17144297
23regulation of lymphocyte chemotaxis (GO:1901623)4.15840259
24regulation of regulatory T cell differentiation (GO:0045589)4.14172832
25positive regulation of natural killer cell mediated immunity (GO:0002717)4.09133154
26negative regulation by host of viral transcription (GO:0043922)4.07183457
27lymphocyte chemotaxis (GO:0048247)4.02283901
28negative regulation of T cell apoptotic process (GO:0070233)3.93456325
29positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)3.93341608
30regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.92593487
31regulation of natural killer cell mediated immunity (GO:0002715)3.92593487
32regulation of alpha-beta T cell proliferation (GO:0046640)3.91241032
33positive regulation of interleukin-8 secretion (GO:2000484)3.86670385
34regulation of T cell tolerance induction (GO:0002664)3.86621155
35positive regulation of leukocyte mediated cytotoxicity (GO:0001912)3.85675051
36regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.85349691
37regulation of gamma-delta T cell differentiation (GO:0045586)3.85247367
38positive regulation of calcium-mediated signaling (GO:0050850)3.84067934
39immunoglobulin mediated immune response (GO:0016064)3.81714303
40positive regulation of alpha-beta T cell proliferation (GO:0046641)3.81679182
41lymphocyte migration (GO:0072676)3.81453925
42T cell selection (GO:0045058)3.80962763
43response to interferon-beta (GO:0035456)3.80682785
44actin nucleation (GO:0045010)3.76597891
45positive regulation of defense response to virus by host (GO:0002230)3.76256691
46positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.74754496
47positive regulation of lymphocyte migration (GO:2000403)3.71512118
48cytolysis (GO:0019835)3.64190159
49negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.63101897
50negative regulation of cell killing (GO:0031342)3.63101897
51regulation of T cell receptor signaling pathway (GO:0050856)3.61470357
52regulation of leukocyte mediated cytotoxicity (GO:0001910)3.60583016
53B cell mediated immunity (GO:0019724)3.59485966
54positive regulation of T cell mediated cytotoxicity (GO:0001916)3.58285832
55* pyrimidine nucleoside catabolic process (GO:0046135)3.57413509
56regulation of gamma-delta T cell activation (GO:0046643)3.55976247
57T cell receptor signaling pathway (GO:0050852)3.55902689
58macrophage chemotaxis (GO:0048246)3.55614691
59positive regulation of T cell chemotaxis (GO:0010820)3.52883729
60regulation of T cell chemotaxis (GO:0010819)3.52883729
61positive regulation of cell killing (GO:0031343)3.52723227
62T cell costimulation (GO:0031295)3.50134679
63positive regulation of tolerance induction (GO:0002645)3.47844879
64lymphocyte costimulation (GO:0031294)3.45478074
65eosinophil chemotaxis (GO:0048245)3.39491774
66regulation of T cell mediated cytotoxicity (GO:0001914)3.39312481
67antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.35968263
68regulation of cell killing (GO:0031341)3.33760357
69antigen receptor-mediated signaling pathway (GO:0050851)3.32195254
70negative regulation of B cell proliferation (GO:0030889)3.31752454
71* regulation of viral genome replication (GO:0045069)3.29419947
72cellular response to type I interferon (GO:0071357)3.25110316
73type I interferon signaling pathway (GO:0060337)3.25110316
74cellular response to interferon-beta (GO:0035458)3.22495760
75regulation of interleukin-2 biosynthetic process (GO:0045076)3.20752891
76regulation of chronic inflammatory response (GO:0002676)3.19380725
77response to type I interferon (GO:0034340)3.19183895
78antigen processing and presentation of endogenous antigen (GO:0019883)3.16684983
79cellular defense response (GO:0006968)3.16033764
80regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.15999119
81regulation of tolerance induction (GO:0002643)3.15302396
82regulation of lymphocyte migration (GO:2000401)3.10123217
83regulation of activation of Janus kinase activity (GO:0010533)3.07688377
84eosinophil migration (GO:0072677)3.06978462
85leukocyte aggregation (GO:0070486)3.06116792
86regulation of T cell apoptotic process (GO:0070232)3.05810549
87* negative regulation of viral process (GO:0048525)3.03200790
88negative regulation of B cell activation (GO:0050869)3.01417644
89antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.98010355
90negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.97791929
91chemokine-mediated signaling pathway (GO:0070098)2.96192351
92negative regulation of lymphocyte apoptotic process (GO:0070229)2.96130524
93monocyte chemotaxis (GO:0002548)2.93888824
94regulation of interleukin-8 secretion (GO:2000482)2.93830481
95regulation of calcium-mediated signaling (GO:0050848)2.92482927
96B cell receptor signaling pathway (GO:0050853)2.91786594
97dendritic cell chemotaxis (GO:0002407)2.91038828
98positive regulation of T cell mediated immunity (GO:0002711)2.89438452
99positive regulation of T cell apoptotic process (GO:0070234)2.89429656
100positive regulation of monocyte chemotaxis (GO:0090026)2.89082651

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human6.45704183
2IRF1_21803131_ChIP-Seq_MONOCYTES_Human5.05799578
3IRF8_22096565_ChIP-ChIP_GC-B_Human5.02720076
4STAT6_20620947_ChIP-Seq_CD4_POS_T_Human5.01297364
5FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.62173383
6IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.16829744
7IRF8_21731497_ChIP-ChIP_J774_Mouse3.74795482
8ELF1_17652178_ChIP-ChIP_JURKAT_Human3.57073149
9NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.40013789
10FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.26502187
11STAT4_19710469_ChIP-ChIP_TH1__Mouse3.25585148
12* MYB_26560356_Chip-Seq_TH2_Human3.11371265
13SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.91250251
14RUNX_20019798_ChIP-Seq_JUKART_Human2.78091383
15E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.63012783
16SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.62472176
17STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.58571567
18MYB_26560356_Chip-Seq_TH1_Human2.41788917
19GABP_17652178_ChIP-ChIP_JURKAT_Human2.36752477
20RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.30152419
21NOTCH1_21737748_ChIP-Seq_TLL_Human2.29212656
22VDR_23849224_ChIP-Seq_CD4+_Human2.19384530
23FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.18085586
24KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.15245312
25GATA3_27048872_Chip-Seq_THYMUS_Human2.11820525
26EST1_17652178_ChIP-ChIP_JURKAT_Human2.08116105
27CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.07504276
28MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.05732635
29MAF_26560356_Chip-Seq_TH1_Human2.05323180
30UTX_26944678_Chip-Seq_JUKART_Human1.99278443
31SPI1_23547873_ChIP-Seq_NB4_Human1.93201015
32SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.87353991
33FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.84476856
34GATA3_26560356_Chip-Seq_TH2_Human1.83510483
35MAF_26560356_Chip-Seq_TH2_Human1.82229094
36JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.78901111
37FOXP3_21729870_ChIP-Seq_TREG_Human1.76804891
38IRF8_27001747_Chip-Seq_BMDM_Mouse1.72663086
39HOXB4_20404135_ChIP-ChIP_EML_Mouse1.54784915
40CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.47234699
41CIITA_25753668_ChIP-Seq_RAJI_Human1.45140143
42TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.43093236
43SMAD_19615063_ChIP-ChIP_OVARY_Human1.41483354
44LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.38919091
45HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.34977367
46E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.34579950
47MYC_22102868_ChIP-Seq_BL_Human1.30503535
48MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.29979653
49RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.27324987
50YY1_21170310_ChIP-Seq_MESCs_Mouse1.22961555
51HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.22448570
52E2F4_17652178_ChIP-ChIP_JURKAT_Human1.21655914
53RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.21528349
54SRF_21415370_ChIP-Seq_HL-1_Mouse1.21035954
55ETS1_20019798_ChIP-Seq_JURKAT_Human1.17233723
56PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.15130893
57CREB1_15753290_ChIP-ChIP_HEK293T_Human1.14749746
58SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.12814922
59SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.10462791
60FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.07451252
61LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.06958583
62CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.06222968
63EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.05003855
64CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.04733715
65ELK1_19687146_ChIP-ChIP_HELA_Human1.04500307
66BCL6_27268052_Chip-Seq_Bcells_Human1.02534776
67RUNX1_22412390_ChIP-Seq_EML_Mouse1.02326123
68NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.01213425
69SCL_19346495_ChIP-Seq_HPC-7_Human1.00502437
70BRD4_27068464_Chip-Seq_AML-cells_Mouse0.99681951
71VDR_24763502_ChIP-Seq_THP-1_Human0.94196709
72MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.93165968
73EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.92426226
74NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.91312219
75TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.91086481
76GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.89579078
77FLI1_27457419_Chip-Seq_LIVER_Mouse0.89523073
78VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.88837193
79GATA3_26560356_Chip-Seq_TH1_Human0.88302941
80ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.87631288
81RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.84786818
82CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.83054710
83GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.81675504
84CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.80896873
85CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.80280951
86ELF1_20517297_ChIP-Seq_JURKAT_Human0.79547464
87PU.1_20513432_ChIP-Seq_Bcells_Mouse0.78984346
88MYC_18358816_ChIP-ChIP_MESCs_Mouse0.78377715
89ERG_20887958_ChIP-Seq_HPC-7_Mouse0.77665890
90IRF1_19129219_ChIP-ChIP_H3396_Human0.76675775
91SPI1_23127762_ChIP-Seq_K562_Human0.76080938
92GATA1_22025678_ChIP-Seq_K562_Human0.73743622
93CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.73625321
94CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.73255614
95CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.71464621
96MYB_21317192_ChIP-Seq_ERMYB_Mouse0.71454700
97GATA2_22383799_ChIP-Seq_G1ME_Mouse0.71417093
98BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.70928325
99POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.70730204
100PCGF2_27294783_Chip-Seq_ESCs_Mouse0.70473236

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005671_abnormal_response_to6.29735150
2MP0003763_abnormal_thymus_physiology4.12598973
3MP0001835_abnormal_antigen_presentation3.80892032
4MP0009333_abnormal_splenocyte_physiolog3.60357810
5MP0009785_altered_susceptibility_to3.49329890
6MP0000685_abnormal_immune_system3.41339410
7MP0005000_abnormal_immune_tolerance3.39983543
8MP0001790_abnormal_immune_system3.27196830
9MP0005387_immune_system_phenotype3.27196830
10MP0001800_abnormal_humoral_immune3.21762651
11MP0002148_abnormal_hypersensitivity_rea3.00151398
12MP0002723_abnormal_immune_serum2.80605560
13MP0006082_CNS_inflammation2.80428740
14MP0002420_abnormal_adaptive_immunity2.79749220
15MP0002166_altered_tumor_susceptibility2.77906239
16MP0003436_decreased_susceptibility_to2.77782232
17MP0001819_abnormal_immune_cell2.70673600
18MP0001873_stomach_inflammation2.69427156
19MP0005025_abnormal_response_to2.69206451
20MP0002452_abnormal_antigen_presenting2.42240467
21MP0002398_abnormal_bone_marrow2.31705159
22MP0002405_respiratory_system_inflammati2.22618148
23MP0000716_abnormal_immune_system2.18159566
24MP0000703_abnormal_thymus_morphology2.16608390
25MP0002006_tumorigenesis2.10593483
26MP0002138_abnormal_hepatobiliary_system2.04255941
27MP0003866_abnormal_defecation1.98984399
28MP0002419_abnormal_innate_immunity1.90670477
29MP0002722_abnormal_immune_system1.90394641
30MP0010155_abnormal_intestine_physiology1.87595232
31MP0000689_abnormal_spleen_morphology1.85389415
32MP0001845_abnormal_inflammatory_respons1.83359053
33MP0003045_fibrosis1.82940017
34MP0001853_heart_inflammation1.70995706
35MP0004947_skin_inflammation1.70415592
36MP0002429_abnormal_blood_cell1.70132242
37MP0003448_altered_tumor_morphology1.58555574
38MP0002277_abnormal_respiratory_mucosa1.56074346
39MP0003724_increased_susceptibility_to1.55442468
40MP0005310_abnormal_salivary_gland1.50641184
41MP0003786_premature_aging1.44669951
42MP0002933_joint_inflammation1.43351037
43MP0005464_abnormal_platelet_physiology1.36007195
44MP0001919_abnormal_reproductive_system1.27996805
45MP0008469_abnormal_protein_level1.23957622
46MP0002877_abnormal_melanocyte_morpholog1.19876530
47MP0005645_abnormal_hypothalamus_physiol1.18212951
48MP0009763_increased_sensitivity_to1.17414925
49MP0003806_abnormal_nucleotide_metabolis1.16181311
50MP0008995_early_reproductive_senescence1.11703044
51MP0001533_abnormal_skeleton_physiology1.09795628
52MP0003300_gastrointestinal_ulcer1.05422422
53MP0002102_abnormal_ear_morphology1.02438102
54MP0004145_abnormal_muscle_electrophysio0.98571166
55MP0004381_abnormal_hair_follicle0.98214656
56MP0002019_abnormal_tumor_incidence0.97573909
57MP0000858_altered_metastatic_potential0.94254955
58MP0000604_amyloidosis0.85768382
59MP0009764_decreased_sensitivity_to0.83485497
60MP0005084_abnormal_gallbladder_morpholo0.80575897
61MP0005166_decreased_susceptibility_to0.79781578
62MP0002163_abnormal_gland_morphology0.78565693
63MP0005075_abnormal_melanosome_morpholog0.77833994
64MP0000490_abnormal_crypts_of0.77075805
65MP0009765_abnormal_xenobiotic_induced0.74130259
66MP0002693_abnormal_pancreas_physiology0.74015782
67MP0006072_abnormal_retinal_apoptosis0.72932961
68MP0002254_reproductive_system_inflammat0.67937104
69MP0002876_abnormal_thyroid_physiology0.66837850
70MP0008007_abnormal_cellular_replicative0.66194130
71MP0003567_abnormal_fetal_cardiomyocyte0.66034324
72MP0003693_abnormal_embryo_hatching0.65834646
73MP0001663_abnormal_digestive_system0.65700385
74MP0003075_altered_response_to0.65071049
75MP0008877_abnormal_DNA_methylation0.63543011
76MP0005389_reproductive_system_phenotype0.63380771
77MP0001348_abnormal_lacrimal_gland0.63016679
78MP0008873_increased_physiological_sensi0.61346690
79MP0000372_irregular_coat_pigmentation0.57392672
80MP0003646_muscle_fatigue0.55666487
81MP0006036_abnormal_mitochondrial_physio0.54752951
82MP0002998_abnormal_bone_remodeling0.54195187
83MP0008872_abnormal_physiological_respon0.52770617
84MP0002136_abnormal_kidney_physiology0.52275285
85MP0004742_abnormal_vestibular_system0.51757129
86MP0000371_diluted_coat_color0.49073272
87MP0005377_hearing/vestibular/ear_phenot0.47700209
88MP0003878_abnormal_ear_physiology0.47700209
89MP0003303_peritoneal_inflammation0.45986733
90MP0001905_abnormal_dopamine_level0.45525422
91MP0006035_abnormal_mitochondrial_morpho0.45410044
92MP0009643_abnormal_urine_homeostasis0.43151265
93MP0003137_abnormal_impulse_conducting0.43000813
94MP0001727_abnormal_embryo_implantation0.42574762
95MP0010307_abnormal_tumor_latency0.42521658
96MP0001119_abnormal_female_reproductive0.41976325
97MP0004957_abnormal_blastocyst_morpholog0.41766551
98MP0002083_premature_death0.40627251
99MP0005379_endocrine/exocrine_gland_phen0.40475299
100MP0001851_eye_inflammation0.39580158

Predicted human phenotypes

RankGene SetZ-score
1Aplastic anemia (HP:0001915)6.90090189
2T lymphocytopenia (HP:0005403)6.29569769
3Abnormality of T cell number (HP:0011839)6.02373790
4IgG deficiency (HP:0004315)5.33656789
5Elevated erythrocyte sedimentation rate (HP:0003565)5.30076699
6Increased IgM level (HP:0003496)5.18512352
7Autoimmune hemolytic anemia (HP:0001890)4.88877378
8Abnormality of T cells (HP:0002843)4.66268362
9Severe combined immunodeficiency (HP:0004430)4.65278324
10Stomatitis (HP:0010280)4.47648115
11Chronic diarrhea (HP:0002028)4.05171306
12Combined immunodeficiency (HP:0005387)3.86127838
13Abnormality of macrophages (HP:0004311)3.72919640
14Abnormal delayed hypersensitivity skin test (HP:0002963)3.62053063
15Abnormality of the prostate (HP:0008775)3.60479518
16Meningitis (HP:0001287)3.54523407
17Abnormality of eosinophils (HP:0001879)3.53629420
18Encephalitis (HP:0002383)3.49324696
19Lymphopenia (HP:0001888)3.47036844
20IgM deficiency (HP:0002850)3.45235264
21Recurrent bronchitis (HP:0002837)3.32751535
22Recurrent viral infections (HP:0004429)3.32378804
23Abnormality of cells of the lymphoid lineage (HP:0012140)3.30479922
24Thyroiditis (HP:0100646)3.24229260
25Abnormality of T cell physiology (HP:0011840)3.24171344
26Hypoproteinemia (HP:0003075)3.22408056
27Eosinophilia (HP:0001880)3.22342960
28Agammaglobulinemia (HP:0004432)3.14429765
29Vasculitis (HP:0002633)3.14227348
30Lymphoma (HP:0002665)3.11527512
31Autoimmune thrombocytopenia (HP:0001973)3.10277427
32Pancytopenia (HP:0001876)3.05714608
33Recurrent cutaneous fungal infections (HP:0011370)3.04716864
34Chronic mucocutaneous candidiasis (HP:0002728)3.04716864
35Recurrent fungal infections (HP:0002841)3.02506761
36Pulmonary infiltrates (HP:0002113)3.00542553
37Hypergammaglobulinemia (HP:0010702)2.99231335
38Recurrent abscess formation (HP:0002722)2.98361894
39Myositis (HP:0100614)2.94722332
40Granulocytopenia (HP:0001913)2.90578492
41IgA deficiency (HP:0002720)2.87955117
42Leukocytosis (HP:0001974)2.87187719
43Mediastinal lymphadenopathy (HP:0100721)2.81498221
44Abnormality of B cell number (HP:0010975)2.79730002
45Optic neuritis (HP:0100653)2.79058311
46Retrobulbar optic neuritis (HP:0100654)2.79058311
47B lymphocytopenia (HP:0010976)2.73058864
48Obstructive lung disease (HP:0006536)2.68099807
49Chronic obstructive pulmonary disease (HP:0006510)2.68099807
50Acute hepatic failure (HP:0006554)2.57655975
51Recurrent bacterial skin infections (HP:0005406)2.54594600
52Joint swelling (HP:0001386)2.52214949
53Increased hepatocellular lipid droplets (HP:0006565)2.44371264
54Orchitis (HP:0100796)2.43952030
55Alveolar cell carcinoma (HP:0006519)2.43078177
56Panhypogammaglobulinemia (HP:0003139)2.40976687
57Hypoplasia of the thymus (HP:0000778)2.40590730
58Mitochondrial inheritance (HP:0001427)2.37145969
59Pustule (HP:0200039)2.28752147
60Hemoptysis (HP:0002105)2.28026103
61Abnormality of male internal genitalia (HP:0000022)2.25130401
62Recurrent skin infections (HP:0001581)2.20839412
63Renal Fanconi syndrome (HP:0001994)2.20005320
64Oral leukoplakia (HP:0002745)2.17435568
65Acute necrotizing encephalopathy (HP:0006965)2.16655291
66Eczematoid dermatitis (HP:0000976)2.16371843
67Chest pain (HP:0100749)2.14688248
68Gangrene (HP:0100758)2.14317872
69Prostate neoplasm (HP:0100787)2.12966908
70Keratoconjunctivitis (HP:0001096)2.10100699
71Neoplasm of the tracheobronchial system (HP:0100552)2.09659387
72Gastrointestinal stroma tumor (HP:0100723)2.08671961
73Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.07135032
74Lipid accumulation in hepatocytes (HP:0006561)2.06591013
75Recurrent sinusitis (HP:0011108)2.03094573
76Keratoconjunctivitis sicca (HP:0001097)2.01914082
77Increased intramyocellular lipid droplets (HP:0012240)1.99740836
78Gastrointestinal infarctions (HP:0005244)1.99628430
79Pulmonary embolism (HP:0002204)1.99051767
80Bronchitis (HP:0012387)1.98061900
81Abnormality of the pleura (HP:0002103)1.94958068
82Ureteral stenosis (HP:0000071)1.93172898
83Increased CSF lactate (HP:0002490)1.92053816
84Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.91977043
85Pulmonary fibrosis (HP:0002206)1.89779100
86Increased IgE level (HP:0003212)1.88444607
87Premature loss of primary teeth (HP:0006323)1.87957049
88Carpal bone hypoplasia (HP:0001498)1.87601373
89Spontaneous hematomas (HP:0007420)1.87263682
90Abnormal mitochondria in muscle tissue (HP:0008316)1.86985815
91Erythema (HP:0010783)1.84647533
92Cellular immunodeficiency (HP:0005374)1.83847528
93Urticaria (HP:0001025)1.83158334
94Abnormal albumin level (HP:0012116)1.83040786
95Hypoalbuminemia (HP:0003073)1.83040786
96Progressive macrocephaly (HP:0004481)1.82514589
97Hepatocellular necrosis (HP:0001404)1.82479802
98Skin rash (HP:0000988)1.80936701
99Ureteral obstruction (HP:0006000)1.79724663
100Recurrent otitis media (HP:0000403)1.79661137

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TXK6.00129786
2KDR4.67079661
3MAP4K14.25340960
4TESK23.60419045
5MST43.42949955
6VRK22.97201777
7TAOK32.77004758
8BCKDK2.62578538
9ITK2.47308712
10BUB12.17718286
11FES2.15701355
12VRK12.12712592
13RIPK42.04980052
14IKBKE1.91992641
15IKBKB1.90297724
16CSK1.89718878
17GRK61.89528412
18SYK1.87359501
19BTK1.61173979
20TLK11.60010907
21PRKCQ1.54451817
22MAP3K141.47712417
23LCK1.44882924
24TEC1.42839903
25MAP3K121.40064391
26JAK31.39086254
27TBK11.36572015
28NUAK11.29910367
29ZAP701.28561383
30ADRBK21.28519598
31TAF11.24788389
32EIF2AK31.21714794
33DAPK11.21268635
34LYN1.18585044
35MAPKAPK31.11614566
36MAP3K111.09630428
37TESK11.02807507
38IRAK41.00058941
39CSF1R0.98401414
40JAK10.94866303
41MAP3K130.91797518
42TNK20.91563882
43ZAK0.88781545
44SMG10.86639128
45MAP2K60.86425615
46GRK70.85879625
47PIM10.84637199
48MAP4K20.82991811
49CHUK0.82955355
50BLK0.80852339
51PIK3CA0.76190556
52GRK10.69284677
53ACVR1B0.65116620
54SIK30.64535079
55BMPR20.63640796
56KIT0.61800179
57SRPK10.61096479
58HCK0.59039899
59TYRO30.55152244
60MELK0.55029243
61FRK0.52433705
62JAK20.52143264
63TYK20.49135521
64MAPKAPK20.48780840
65LIMK10.47439376
66FYN0.45888326
67INSRR0.45861075
68MAPK110.44625739
69FGR0.44353728
70DAPK30.43579810
71RPS6KA50.42544442
72ATR0.41684057
73CLK10.40526603
74STK100.40169548
75AURKA0.39208302
76PIK3CG0.38847718
77STK40.38599862
78DYRK20.38059106
79PRKCH0.37087878
80EIF2AK20.35095357
81MAP3K50.33626398
82INSR0.33206131
83PRKCD0.33089386
84MAPKAPK50.32103628
85OXSR10.30390881
86MATK0.29566808
87MARK30.26738428
88PDK10.26318112
89FGFR40.24427590
90NLK0.24302586
91CDK40.24146236
92ALK0.23238091
93STK160.22801412
94IGF1R0.22152335
95EPHA30.21930998
96WNK40.21717518
97RPS6KA40.20796918
98GRK50.20139264
99PASK0.18814598
100TRIM280.18554048

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053405.62769159
2Graft-versus-host disease_Homo sapiens_hsa053324.36135074
3Autoimmune thyroid disease_Homo sapiens_hsa053203.83243719
4Allograft rejection_Homo sapiens_hsa053303.79866298
5Proteasome_Homo sapiens_hsa030503.70625097
6Antigen processing and presentation_Homo sapiens_hsa046123.31294987
7Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.94184956
8Type I diabetes mellitus_Homo sapiens_hsa049402.84782836
9Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.78065685
10T cell receptor signaling pathway_Homo sapiens_hsa046602.68267968
11Intestinal immune network for IgA production_Homo sapiens_hsa046722.37180636
12Hematopoietic cell lineage_Homo sapiens_hsa046402.33488986
13NF-kappa B signaling pathway_Homo sapiens_hsa040642.13847381
14Measles_Homo sapiens_hsa051622.04689066
15Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.01483990
16Asthma_Homo sapiens_hsa053101.99907842
17Viral myocarditis_Homo sapiens_hsa054161.87391484
18Rheumatoid arthritis_Homo sapiens_hsa053231.82401586
19Oxidative phosphorylation_Homo sapiens_hsa001901.75427164
20RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.58094608
21Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.54901322
22Parkinsons disease_Homo sapiens_hsa050121.54682938
23Protein export_Homo sapiens_hsa030601.49273081
24RNA polymerase_Homo sapiens_hsa030201.45508707
25Shigellosis_Homo sapiens_hsa051311.35394020
26Systemic lupus erythematosus_Homo sapiens_hsa053221.34087886
27Toll-like receptor signaling pathway_Homo sapiens_hsa046201.33163071
28Herpes simplex infection_Homo sapiens_hsa051681.26514553
29Leishmaniasis_Homo sapiens_hsa051401.22615148
30Epstein-Barr virus infection_Homo sapiens_hsa051691.16451988
31Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.12290762
32B cell receptor signaling pathway_Homo sapiens_hsa046621.12156631
33Staphylococcus aureus infection_Homo sapiens_hsa051501.10092542
34Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.09282462
35NOD-like receptor signaling pathway_Homo sapiens_hsa046211.08673521
36Salmonella infection_Homo sapiens_hsa051321.06415137
37Osteoclast differentiation_Homo sapiens_hsa043801.03465220
38Chemokine signaling pathway_Homo sapiens_hsa040620.96849925
39Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.96261065
40Ribosome_Homo sapiens_hsa030100.93401391
41Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.92328625
42Alzheimers disease_Homo sapiens_hsa050100.91857723
43Homologous recombination_Homo sapiens_hsa034400.90588745
44Apoptosis_Homo sapiens_hsa042100.85083611
45Influenza A_Homo sapiens_hsa051640.82043197
46Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.81791641
47Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.80337283
48Huntingtons disease_Homo sapiens_hsa050160.79879355
49Malaria_Homo sapiens_hsa051440.73331148
50Jak-STAT signaling pathway_Homo sapiens_hsa046300.71958117
51TNF signaling pathway_Homo sapiens_hsa046680.71253084
52Pyrimidine metabolism_Homo sapiens_hsa002400.65447610
53HTLV-I infection_Homo sapiens_hsa051660.58843626
54RNA degradation_Homo sapiens_hsa030180.58387055
55Legionellosis_Homo sapiens_hsa051340.53989737
56Viral carcinogenesis_Homo sapiens_hsa052030.53285293
57Spliceosome_Homo sapiens_hsa030400.52548563
58Tuberculosis_Homo sapiens_hsa051520.51091691
59Toxoplasmosis_Homo sapiens_hsa051450.50333818
60Nucleotide excision repair_Homo sapiens_hsa034200.48343373
61SNARE interactions in vesicular transport_Homo sapiens_hsa041300.48336883
62Fanconi anemia pathway_Homo sapiens_hsa034600.48283940
63Propanoate metabolism_Homo sapiens_hsa006400.46329152
64Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.44490337
65Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.41302999
66Hepatitis B_Homo sapiens_hsa051610.37043308
67Cardiac muscle contraction_Homo sapiens_hsa042600.36598590
68African trypanosomiasis_Homo sapiens_hsa051430.36334255
69DNA replication_Homo sapiens_hsa030300.33681796
70Purine metabolism_Homo sapiens_hsa002300.33508451
71alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.33146738
72Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.32912201
73Regulation of autophagy_Homo sapiens_hsa041400.31152462
74Pertussis_Homo sapiens_hsa051330.30429747
75Sulfur metabolism_Homo sapiens_hsa009200.28307145
76Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.27343610
77Basal transcription factors_Homo sapiens_hsa030220.26828394
78Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.24637339
79p53 signaling pathway_Homo sapiens_hsa041150.24594944
80Alcoholism_Homo sapiens_hsa050340.23551710
81Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.22848955
82One carbon pool by folate_Homo sapiens_hsa006700.22642776
83Peroxisome_Homo sapiens_hsa041460.19864421
84Mismatch repair_Homo sapiens_hsa034300.19331468
85Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.18671600
86Linoleic acid metabolism_Homo sapiens_hsa005910.18510401
87Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.18017857
88Transcriptional misregulation in cancer_Homo sapiens_hsa052020.17985397
89Drug metabolism - other enzymes_Homo sapiens_hsa009830.11718409
90Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.10953122
91Phototransduction_Homo sapiens_hsa047440.08112693
92N-Glycan biosynthesis_Homo sapiens_hsa005100.06791795
93Phagosome_Homo sapiens_hsa041450.06574759
94Hepatitis C_Homo sapiens_hsa051600.04812765
95RNA transport_Homo sapiens_hsa030130.04137588
96Endocytosis_Homo sapiens_hsa041440.03379042
97Platelet activation_Homo sapiens_hsa046110.03194516
98Lysosome_Homo sapiens_hsa041420.02002884
99Leukocyte transendothelial migration_Homo sapiens_hsa046700.02002879
100Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120-0.0043169

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