APOBEC3C

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 is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA deamination (GO:0045006)8.65991992
2regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450918.26091365
3* cytidine deamination (GO:0009972)7.60231051
4* cytidine metabolic process (GO:0046087)7.60231051
5* cytidine catabolic process (GO:0006216)7.60231051
6* pyrimidine ribonucleoside catabolic process (GO:0046133)6.64471799
7positive regulation of interleukin-8 secretion (GO:2000484)4.99784775
8negative regulation by host of viral transcription (GO:0043922)4.89279263
9cellular response to interleukin-15 (GO:0071350)4.81263296
10positive regulation of B cell differentiation (GO:0045579)4.64327459
11positive regulation of gamma-delta T cell activation (GO:0046645)4.59753650
12regulation of regulatory T cell differentiation (GO:0045589)4.57556266
13Arp2/3 complex-mediated actin nucleation (GO:0034314)4.57260191
14positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.49911433
15eosinophil chemotaxis (GO:0048245)4.44862388
16positive thymic T cell selection (GO:0045059)4.41738993
17negative T cell selection (GO:0043383)4.40241193
18regulation of B cell receptor signaling pathway (GO:0050855)4.40097235
19response to interleukin-15 (GO:0070672)4.28584744
20positive T cell selection (GO:0043368)4.27725091
21regulation of lymphocyte chemotaxis (GO:1901623)4.24964212
22positive regulation of defense response to virus by host (GO:0002230)4.21889322
23negative regulation of T cell apoptotic process (GO:0070233)4.14375164
24antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.10424534
25regulation of B cell differentiation (GO:0045577)4.08447018
26T cell migration (GO:0072678)4.08170459
27eosinophil migration (GO:0072677)4.02142731
28positive regulation of lymphocyte migration (GO:2000403)4.01937997
29regulation of activation of Janus kinase activity (GO:0010533)3.91909347
30positive regulation of natural killer cell mediated immunity (GO:0002717)3.89364459
31actin nucleation (GO:0045010)3.89088223
32negative regulation of B cell proliferation (GO:0030889)3.87140219
33regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.82505826
34* negative regulation of viral genome replication (GO:0045071)3.82077050
35positive regulation of leukocyte mediated cytotoxicity (GO:0001912)3.79776779
36positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)3.76182681
37macrophage chemotaxis (GO:0048246)3.72559240
38negative thymic T cell selection (GO:0045060)3.68941786
39regulation of chronic inflammatory response (GO:0002676)3.68767198
40regulation of interleukin-8 secretion (GO:2000482)3.68692385
41regulation of natural killer cell mediated immunity (GO:0002715)3.65243772
42regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.65243772
43thymic T cell selection (GO:0045061)3.58302630
44positive regulation of T cell chemotaxis (GO:0010820)3.55682130
45regulation of T cell chemotaxis (GO:0010819)3.55682130
46regulation of gamma-delta T cell differentiation (GO:0045586)3.54949894
47positive regulation of T cell mediated cytotoxicity (GO:0001916)3.54676503
48positive regulation of calcium-mediated signaling (GO:0050850)3.54332973
49response to interferon-beta (GO:0035456)3.53319883
50positive regulation of cell killing (GO:0031343)3.47314673
51T cell costimulation (GO:0031295)3.46280370
52regulation of leukocyte mediated cytotoxicity (GO:0001910)3.45188536
53lymphocyte chemotaxis (GO:0048247)3.44264216
54regulation of T cell tolerance induction (GO:0002664)3.44074375
55lymphocyte costimulation (GO:0031294)3.41990059
56negative regulation of lymphocyte apoptotic process (GO:0070229)3.40549164
57regulation of T cell receptor signaling pathway (GO:0050856)3.39693656
58immunoglobulin mediated immune response (GO:0016064)3.38815476
59regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.34947880
60negative regulation of viral transcription (GO:0032897)3.33781006
61regulation of lymphocyte migration (GO:2000401)3.31746750
62* pyrimidine nucleoside catabolic process (GO:0046135)3.27993832
63B cell mediated immunity (GO:0019724)3.26075605
64T cell selection (GO:0045058)3.25246922
65regulation of T cell mediated cytotoxicity (GO:0001914)3.24986554
66regulation of gamma-delta T cell activation (GO:0046643)3.23634961
67regulation of cell killing (GO:0031341)3.22751469
68positive regulation of monocyte chemotaxis (GO:0090026)3.22633471
69negative regulation of B cell activation (GO:0050869)3.17063728
70cellular defense response (GO:0006968)3.15158310
71regulation of alpha-beta T cell proliferation (GO:0046640)3.14011559
72T cell receptor signaling pathway (GO:0050852)3.13592736
73positive regulation of T cell migration (GO:2000406)3.12658985
74positive regulation of tolerance induction (GO:0002645)3.11844025
75positive regulation of alpha-beta T cell proliferation (GO:0046641)3.09948381
76antigen receptor-mediated signaling pathway (GO:0050851)3.09226396
77positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.07748068
78granulocyte activation (GO:0036230)3.05549355
79antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.05482342
80cytolysis (GO:0019835)3.04162897
81antigen processing and presentation of endogenous antigen (GO:0019883)3.03104427
82regulation of interleukin-2 biosynthetic process (GO:0045076)2.97871546
83negative regulation of cell killing (GO:0031342)2.92819096
84negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.92819096
85antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.92478510
86regulation of T cell migration (GO:2000404)2.91461409
87regulation of T cell apoptotic process (GO:0070232)2.90643903
88regulation of interleukin-12 biosynthetic process (GO:0045075)2.89557563
89dendritic cell chemotaxis (GO:0002407)2.89047476
90* negative regulation of viral process (GO:0048525)2.88538238
91positive regulation of T cell apoptotic process (GO:0070234)2.86413069
92negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.86133101
93B cell receptor signaling pathway (GO:0050853)2.86031374
94negative regulation of leukocyte apoptotic process (GO:2000107)2.85872492
95* regulation of viral genome replication (GO:0045069)2.83388102
96lymphocyte migration (GO:0072676)2.81881272
97regulation of defense response to virus by host (GO:0050691)2.81713372
98positive regulation of interleukin-1 beta secretion (GO:0050718)2.81527604
99antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.80887338
100regulation of tolerance induction (GO:0002643)2.80864418

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human8.32299823
2IRF8_22096565_ChIP-ChIP_GC-B_Human5.03038931
3STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.92970029
4* IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.91601801
5ELF1_17652178_ChIP-ChIP_JURKAT_Human3.83628680
6FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.63318602
7IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.40347579
8NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.01688235
9IRF8_21731497_ChIP-ChIP_J774_Mouse2.92164767
10MYB_26560356_Chip-Seq_TH2_Human2.88563646
11STAT4_19710469_ChIP-ChIP_TH1__Mouse2.82720123
12SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.60280255
13RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.53275842
14KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.35112723
15CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.24537349
16FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.23669487
17GABP_17652178_ChIP-ChIP_JURKAT_Human2.21847904
18MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.21286703
19MYB_26560356_Chip-Seq_TH1_Human2.20945869
20JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.15477487
21SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.14865808
22E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.13379622
23RUNX_20019798_ChIP-Seq_JUKART_Human2.11677467
24EST1_17652178_ChIP-ChIP_JURKAT_Human2.01873135
25GATA3_27048872_Chip-Seq_THYMUS_Human1.93473902
26MAF_26560356_Chip-Seq_TH1_Human1.90322270
27LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.89166200
28SPI1_23547873_ChIP-Seq_NB4_Human1.87995589
29STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.87064545
30UTX_26944678_Chip-Seq_JUKART_Human1.85488473
31VDR_23849224_ChIP-Seq_CD4+_Human1.83097568
32SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.80544064
33EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.79182736
34MAF_26560356_Chip-Seq_TH2_Human1.73604729
35FOXP3_21729870_ChIP-Seq_TREG_Human1.72834155
36GATA3_26560356_Chip-Seq_TH2_Human1.70750386
37MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.64576737
38HOXB4_20404135_ChIP-ChIP_EML_Mouse1.62615641
39TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.61016803
40SRF_21415370_ChIP-Seq_HL-1_Mouse1.59592882
41LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.52840340
42GATA1_22025678_ChIP-Seq_K562_Human1.51896948
43FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.49527756
44NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.48075765
45CIITA_25753668_ChIP-Seq_RAJI_Human1.48005133
46IRF8_27001747_Chip-Seq_BMDM_Mouse1.46413376
47ETS1_20019798_ChIP-Seq_JURKAT_Human1.46378138
48GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.38780929
49CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.34152826
50RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.30783707
51STAT6_21828071_ChIP-Seq_BEAS2B_Human1.25390081
52CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.23291213
53SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.23250791
54* BCL6_27268052_Chip-Seq_Bcells_Human1.22391320
55SCL_19346495_ChIP-Seq_HPC-7_Human1.22123217
56* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.20835059
57MYC_22102868_ChIP-Seq_BL_Human1.17737080
58SMAD_19615063_ChIP-ChIP_OVARY_Human1.17445443
59RUNX1_22412390_ChIP-Seq_EML_Mouse1.17242987
60ELF1_20517297_ChIP-Seq_JURKAT_Human1.13621084
61MYC_18358816_ChIP-ChIP_MESCs_Mouse1.13608862
62SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.11769349
63* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.09434325
64CREB1_15753290_ChIP-ChIP_HEK293T_Human1.07687311
65NOTCH1_21737748_ChIP-Seq_TLL_Human1.07682923
66FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.06987536
67EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.04040974
68HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.02370090
69MYB_21317192_ChIP-Seq_ERMYB_Mouse0.98784906
70SPI1_23127762_ChIP-Seq_K562_Human0.98703007
71YY1_21170310_ChIP-Seq_MESCs_Mouse0.97862726
72PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.97826586
73CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.97178949
74BRD4_27068464_Chip-Seq_AML-cells_Mouse0.96702961
75VDR_24763502_ChIP-Seq_THP-1_Human0.95990520
76P300_27268052_Chip-Seq_Bcells_Human0.95593765
77ELK1_19687146_ChIP-ChIP_HELA_Human0.93527247
78GATA2_22383799_ChIP-Seq_G1ME_Mouse0.92445603
79RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.91009712
80BCOR_27268052_Chip-Seq_Bcells_Human0.90289494
81* RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.90097424
82GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.90008002
83STAT1_20625510_ChIP-Seq_HELA_Human0.88947957
84NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.88110338
85CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.87496344
86ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.87163331
87PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.86519178
88BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.86233440
89E2F7_22180533_ChIP-Seq_HELA_Human0.86023026
90ERG_20887958_ChIP-Seq_HPC-7_Mouse0.85974715
91CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.83556469
92GATA3_26560356_Chip-Seq_TH1_Human0.82584892
93MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.82482837
94TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.82316177
95SPI1_20517297_ChIP-Seq_HL60_Human0.81972283
96CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.80656580
97CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.80509971
98PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.78794897
99E2F4_17652178_ChIP-ChIP_JURKAT_Human0.78009573
100GABP_19822575_ChIP-Seq_HepG2_Human0.77246194

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005671_abnormal_response_to5.70327363
2MP0001835_abnormal_antigen_presentation3.90226583
3MP0003763_abnormal_thymus_physiology3.74131829
4MP0009785_altered_susceptibility_to3.55148836
5MP0009333_abnormal_splenocyte_physiolog3.39308250
6MP0002148_abnormal_hypersensitivity_rea3.25051902
7MP0005000_abnormal_immune_tolerance3.22145582
8MP0006082_CNS_inflammation3.10993570
9MP0001800_abnormal_humoral_immune3.10681521
10MP0002723_abnormal_immune_serum2.82185555
11MP0005387_immune_system_phenotype2.78886839
12MP0001790_abnormal_immune_system2.78886839
13MP0005025_abnormal_response_to2.76250307
14MP0002420_abnormal_adaptive_immunity2.75198969
15MP0001819_abnormal_immune_cell2.68681507
16MP0000685_abnormal_immune_system2.66361432
17MP0001873_stomach_inflammation2.55299038
18MP0002452_abnormal_antigen_presenting2.50521064
19MP0003436_decreased_susceptibility_to2.44095811
20MP0002398_abnormal_bone_marrow2.41758746
21MP0000716_abnormal_immune_system2.20442720
22MP0005464_abnormal_platelet_physiology2.16877690
23MP0002166_altered_tumor_susceptibility2.12352325
24MP0003866_abnormal_defecation2.09749477
25MP0002405_respiratory_system_inflammati2.06285561
26MP0000689_abnormal_spleen_morphology2.03390309
27MP0002419_abnormal_innate_immunity2.01232978
28MP0003806_abnormal_nucleotide_metabolis2.00377560
29MP0002722_abnormal_immune_system1.98175092
30MP0010155_abnormal_intestine_physiology1.97958566
31MP0000703_abnormal_thymus_morphology1.91756374
32MP0001853_heart_inflammation1.88151755
33MP0002429_abnormal_blood_cell1.87545005
34MP0001845_abnormal_inflammatory_respons1.80469862
35MP0002006_tumorigenesis1.72188783
36MP0000372_irregular_coat_pigmentation1.59180817
37MP0003724_increased_susceptibility_to1.58424140
38MP0003786_premature_aging1.57227949
39MP0004947_skin_inflammation1.50429326
40MP0003448_altered_tumor_morphology1.49266515
41MP0008469_abnormal_protein_level1.41316120
42MP0003045_fibrosis1.37951018
43MP0002877_abnormal_melanocyte_morpholog1.37374130
44MP0005075_abnormal_melanosome_morpholog1.34672151
45MP0009763_increased_sensitivity_to1.34613396
46MP0002132_abnormal_respiratory_system1.26393652
47MP0002933_joint_inflammation1.26307790
48MP0005310_abnormal_salivary_gland1.25249961
49MP0002138_abnormal_hepatobiliary_system1.25029803
50MP0002163_abnormal_gland_morphology1.19904008
51MP0000858_altered_metastatic_potential1.19682697
52MP0002019_abnormal_tumor_incidence1.19065461
53MP0001533_abnormal_skeleton_physiology1.18090358
54MP0002396_abnormal_hematopoietic_system1.15839798
55MP0009764_decreased_sensitivity_to1.14080693
56MP0009765_abnormal_xenobiotic_induced1.11073404
57MP0004147_increased_porphyrin_level1.04962222
58MP0006036_abnormal_mitochondrial_physio1.02269602
59MP0001919_abnormal_reproductive_system0.94101756
60MP0003075_altered_response_to0.84413760
61MP0008873_increased_physiological_sensi0.84231077
62MP0008007_abnormal_cellular_replicative0.84061078
63MP0002277_abnormal_respiratory_mucosa0.83454622
64MP0000015_abnormal_ear_pigmentation0.77087207
65MP0010307_abnormal_tumor_latency0.75304615
66MP0000465_gastrointestinal_hemorrhage0.74905295
67MP0005166_decreased_susceptibility_to0.74903218
68MP0005174_abnormal_tail_pigmentation0.72606351
69MP0005083_abnormal_biliary_tract0.69839801
70MP0004381_abnormal_hair_follicle0.69497226
71MP0002095_abnormal_skin_pigmentation0.69019493
72MP0005165_increased_susceptibility_to0.66989232
73MP0009643_abnormal_urine_homeostasis0.66544545
74MP0002876_abnormal_thyroid_physiology0.66263036
75MP0008872_abnormal_physiological_respon0.65994215
76MP0008058_abnormal_DNA_repair0.64396411
77MP0000343_altered_response_to0.61759691
78MP0004145_abnormal_muscle_electrophysio0.60164198
79MP0002136_abnormal_kidney_physiology0.59967918
80MP0006035_abnormal_mitochondrial_morpho0.58580109
81MP0003656_abnormal_erythrocyte_physiolo0.58165445
82MP0002693_abnormal_pancreas_physiology0.58087524
83MP0001542_abnormal_bone_strength0.57868743
84MP0005410_abnormal_fertilization0.57249080
85MP0005390_skeleton_phenotype0.56567911
86MP0003186_abnormal_redox_activity0.56431036
87MP0005584_abnormal_enzyme/coenzyme_acti0.55947229
88MP0003172_abnormal_lysosome_physiology0.55170674
89MP0000490_abnormal_crypts_of0.54356316
90MP0005636_abnormal_mineral_homeostasis0.53431948
91MP0003111_abnormal_nucleus_morphology0.52989162
92MP0005389_reproductive_system_phenotype0.52203087
93MP0001663_abnormal_digestive_system0.51687212
94MP0001905_abnormal_dopamine_level0.51051026
95MP0002998_abnormal_bone_remodeling0.50852843
96MP0003693_abnormal_embryo_hatching0.46995382
97MP0001881_abnormal_mammary_gland0.45843082
98MP0001661_extended_life_span0.45759317
99MP0000313_abnormal_cell_death0.42913431
100MP0005084_abnormal_gallbladder_morpholo0.42234010

Predicted human phenotypes

RankGene SetZ-score
1T lymphocytopenia (HP:0005403)6.14254413
2Abnormality of T cell number (HP:0011839)6.10095510
3Autoimmune hemolytic anemia (HP:0001890)5.18758757
4Aplastic anemia (HP:0001915)5.03196825
5Abnormality of T cells (HP:0002843)4.79106245
6IgG deficiency (HP:0004315)4.58792273
7Abnormal delayed hypersensitivity skin test (HP:0002963)4.42183214
8Increased IgM level (HP:0003496)4.21254104
9Elevated erythrocyte sedimentation rate (HP:0003565)4.07102236
10Abnormality of the prostate (HP:0008775)4.04808891
11Severe combined immunodeficiency (HP:0004430)3.87849918
12Agammaglobulinemia (HP:0004432)3.84472350
13Meningitis (HP:0001287)3.67929850
14Recurrent viral infections (HP:0004429)3.61647619
15Hypoproteinemia (HP:0003075)3.61237997
16Chronic diarrhea (HP:0002028)3.60558982
17Abnormality of T cell physiology (HP:0011840)3.57388813
18Chronic obstructive pulmonary disease (HP:0006510)3.51462023
19Obstructive lung disease (HP:0006536)3.51462023
20Abnormality of eosinophils (HP:0001879)3.46402570
21Eosinophilia (HP:0001880)3.37969764
22Stomatitis (HP:0010280)3.37861678
23Recurrent fungal infections (HP:0002841)3.31621275
24Recurrent cutaneous fungal infections (HP:0011370)3.31048747
25Chronic mucocutaneous candidiasis (HP:0002728)3.31048747
26Granulocytopenia (HP:0001913)3.25646165
27Recurrent bronchitis (HP:0002837)3.17198980
28Combined immunodeficiency (HP:0005387)3.16385594
29Encephalitis (HP:0002383)3.16237288
30Pulmonary infiltrates (HP:0002113)3.14077538
31Panhypogammaglobulinemia (HP:0003139)3.04219611
32Autoimmune thrombocytopenia (HP:0001973)3.00040887
33Abnormality of macrophages (HP:0004311)2.99491885
34Vasculitis (HP:0002633)2.98447445
35Joint swelling (HP:0001386)2.90479455
36Pustule (HP:0200039)2.87172580
37Leukocytosis (HP:0001974)2.84318188
38Pulmonary fibrosis (HP:0002206)2.79488818
39Myositis (HP:0100614)2.79331997
40IgM deficiency (HP:0002850)2.76979125
41Chest pain (HP:0100749)2.75334079
42Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.73442501
43Decreased activity of mitochondrial respiratory chain (HP:0008972)2.73442501
44Abnormality of B cell number (HP:0010975)2.73437449
45Abnormality of cells of the lymphoid lineage (HP:0012140)2.68172918
46Thyroiditis (HP:0100646)2.67370566
47Ureteral stenosis (HP:0000071)2.66379950
48Lymphopenia (HP:0001888)2.60799588
49Recurrent skin infections (HP:0001581)2.59353059
50Mediastinal lymphadenopathy (HP:0100721)2.59213857
51Hemoptysis (HP:0002105)2.57874042
52Gastrointestinal infarctions (HP:0005244)2.56757693
53Gangrene (HP:0100758)2.55616126
54Skin rash (HP:0000988)2.54128441
553-Methylglutaconic aciduria (HP:0003535)2.54096560
56IgA deficiency (HP:0002720)2.51911420
57Oral leukoplakia (HP:0002745)2.50768414
58Retrobulbar optic neuritis (HP:0100654)2.46054417
59Optic neuritis (HP:0100653)2.46054417
60Ureteral obstruction (HP:0006000)2.45827454
61Petechiae (HP:0000967)2.45809565
62Recurrent abscess formation (HP:0002722)2.44805604
63Abnormality of male internal genitalia (HP:0000022)2.43586979
64Lymphoma (HP:0002665)2.39501853
65Increased intramyocellular lipid droplets (HP:0012240)2.38228418
66Mitochondrial inheritance (HP:0001427)2.37493033
67Recurrent bacterial skin infections (HP:0005406)2.35689723
68Hypergammaglobulinemia (HP:0010702)2.35187676
69B lymphocytopenia (HP:0010976)2.33595387
70Orchitis (HP:0100796)2.32304931
71Abnormality of the heme biosynthetic pathway (HP:0010472)2.31431214
72Abnormality of the pleura (HP:0002103)2.30819757
73Increased serum ferritin (HP:0003281)2.23426968
74Epistaxis (HP:0000421)2.20674711
75Abnormal mitochondria in muscle tissue (HP:0008316)2.19125941
76Hepatocellular necrosis (HP:0001404)2.18428215
77Acute necrotizing encephalopathy (HP:0006965)2.18279694
78Acute hepatic failure (HP:0006554)2.16634509
79Pancytopenia (HP:0001876)2.15796421
80Increased muscle lipid content (HP:0009058)2.15291017
81Hypoplasia of the thymus (HP:0000778)2.14895347
82Hepatosplenomegaly (HP:0001433)2.13359239
83Type I transferrin isoform profile (HP:0003642)2.04299245
84Pulmonary embolism (HP:0002204)2.01122221
85Increased CSF lactate (HP:0002490)1.98553940
86Arterial thrombosis (HP:0004420)1.97360790
87Abnormal albumin level (HP:0012116)1.96206901
88Hypoalbuminemia (HP:0003073)1.96206901
89Polyneuropathy (HP:0001271)1.93962809
90Abnormality of the pericardium (HP:0001697)1.93704431
91Carpal bone hypoplasia (HP:0001498)1.93163365
92Cerebral palsy (HP:0100021)1.91552633
93Cutaneous melanoma (HP:0012056)1.90789335
94Glomerulopathy (HP:0100820)1.90279962
95Prolonged bleeding time (HP:0003010)1.90121769
96Seborrheic dermatitis (HP:0001051)1.90042394
97Abnormality of iron homeostasis (HP:0011031)1.89271540
98Hepatic necrosis (HP:0002605)1.86679993
99Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.86350352
100Urticaria (HP:0001025)1.86153643

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TXK7.30690877
2KDR4.54089085
3TESK23.56816752
4MAP4K13.51062597
5ITK2.63540549
6VRK22.58244333
7MST42.42516119
8BCKDK2.38240169
9BUB12.29254953
10RIPK42.26481292
11TAOK32.17883564
12FES1.99422567
13SYK1.89406788
14NUAK11.73261317
15CSK1.61745420
16IKBKB1.60041471
17BTK1.52736216
18JAK31.47980740
19PRKCQ1.47634121
20EIF2AK31.42919281
21LCK1.42881189
22BMPR21.40641142
23TLK11.40096422
24TESK11.38963198
25ADRBK21.35712024
26TEC1.33480555
27TBK11.32831491
28MAPKAPK31.32627734
29SCYL21.31244646
30MATK1.27061655
31EIF2AK11.25366687
32IKBKE1.24023540
33GRK71.23052608
34GRK61.21470928
35ZAK1.21294156
36KIT1.21025978
37ZAP701.20992926
38PIM21.20891968
39LYN1.14418563
40MAP3K111.12667072
41CSF1R1.06946602
42VRK11.02925682
43MAP3K141.01607273
44DAPK10.95541420
45NME20.92098791
46PIK3CA0.88008287
47BLK0.87553333
48IRAK40.87161901
49MAP4K20.86806528
50TYK20.84402823
51MAP3K120.79560112
52MYLK0.77128159
53LIMK10.74776190
54BMPR1B0.73156616
55STK100.72882137
56TNK20.67523830
57ERN10.65378354
58MAP2K60.64583475
59JAK10.63306680
60GRK10.62113376
61STK160.60484104
62PIM10.59524116
63HCK0.58162479
64SRPK10.57939367
65CLK10.57765955
66WNK40.55489332
67FYN0.55223603
68MAPK110.51748503
69JAK20.51629190
70IGF1R0.49895289
71MAPKAPK20.49017976
72EIF2AK20.39598010
73ATR0.38725940
74PAK10.38595345
75PRKCD0.38529606
76AURKA0.37963569
77NME10.36981844
78GRK50.35203600
79RPS6KA50.35158546
80PIK3CG0.33636517
81INSR0.31809169
82MARK30.30681110
83IRAK30.25173067
84CDK40.23389455
85MAPKAPK50.23039683
86ABL10.22077636
87TGFBR20.21346790
88PRKCA0.21190094
89CSNK2A10.20875932
90BCR0.20376376
91PTK2B0.19543668
92MAP3K130.19378258
93SMG10.18856363
94TAOK20.18413712
95CHUK0.18098482
96ROCK10.17952750
97DAPK30.17359502
98MAPK30.16891789
99NTRK10.16886662
100ADRBK10.16713132

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053405.22027693
2Graft-versus-host disease_Homo sapiens_hsa053324.43677270
3Autoimmune thyroid disease_Homo sapiens_hsa053203.95758696
4Proteasome_Homo sapiens_hsa030503.92960052
5Allograft rejection_Homo sapiens_hsa053303.81008308
6Antigen processing and presentation_Homo sapiens_hsa046123.55459860
7Cytosolic DNA-sensing pathway_Homo sapiens_hsa046233.02217705
8Type I diabetes mellitus_Homo sapiens_hsa049402.89915510
9Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.72452246
10Hematopoietic cell lineage_Homo sapiens_hsa046402.59412107
11Intestinal immune network for IgA production_Homo sapiens_hsa046722.16555084
12Asthma_Homo sapiens_hsa053102.14093956
13Rheumatoid arthritis_Homo sapiens_hsa053232.13694090
14Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.00063504
15T cell receptor signaling pathway_Homo sapiens_hsa046601.99499944
16NF-kappa B signaling pathway_Homo sapiens_hsa040641.93039591
17Viral myocarditis_Homo sapiens_hsa054161.74416075
18Measles_Homo sapiens_hsa051621.73649868
19Oxidative phosphorylation_Homo sapiens_hsa001901.52686807
20Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.48734204
21Parkinsons disease_Homo sapiens_hsa050121.44939088
22RNA polymerase_Homo sapiens_hsa030201.36715486
23Toll-like receptor signaling pathway_Homo sapiens_hsa046201.25541717
24Leishmaniasis_Homo sapiens_hsa051401.23132106
25Staphylococcus aureus infection_Homo sapiens_hsa051501.20894373
26Salmonella infection_Homo sapiens_hsa051321.20731771
27Herpes simplex infection_Homo sapiens_hsa051681.18642993
28RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.17209050
29Homologous recombination_Homo sapiens_hsa034401.12333419
30Shigellosis_Homo sapiens_hsa051311.11446261
31Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.02705896
32SNARE interactions in vesicular transport_Homo sapiens_hsa041301.00178006
33DNA replication_Homo sapiens_hsa030300.99810843
34Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.95251278
35NOD-like receptor signaling pathway_Homo sapiens_hsa046210.93929064
36Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.93525549
37Protein export_Homo sapiens_hsa030600.89423983
38Pyrimidine metabolism_Homo sapiens_hsa002400.85206125
39Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.84773448
40Epstein-Barr virus infection_Homo sapiens_hsa051690.84473903
41Alzheimers disease_Homo sapiens_hsa050100.79975774
42Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.79757180
43Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.78336727
44Apoptosis_Homo sapiens_hsa042100.78187422
45Influenza A_Homo sapiens_hsa051640.77985309
46Osteoclast differentiation_Homo sapiens_hsa043800.77949313
47Nucleotide excision repair_Homo sapiens_hsa034200.76022436
48Malaria_Homo sapiens_hsa051440.74834861
49Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.74422857
50Mismatch repair_Homo sapiens_hsa034300.73209239
51Chemokine signaling pathway_Homo sapiens_hsa040620.72515025
52Systemic lupus erythematosus_Homo sapiens_hsa053220.71036763
53Jak-STAT signaling pathway_Homo sapiens_hsa046300.69382891
54Huntingtons disease_Homo sapiens_hsa050160.62054572
55B cell receptor signaling pathway_Homo sapiens_hsa046620.60795645
56HTLV-I infection_Homo sapiens_hsa051660.57856822
57One carbon pool by folate_Homo sapiens_hsa006700.57246895
58Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.56835470
59African trypanosomiasis_Homo sapiens_hsa051430.56421684
60Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.55814522
61Legionellosis_Homo sapiens_hsa051340.54668702
62Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.54624321
63Ribosome_Homo sapiens_hsa030100.54118247
64Tuberculosis_Homo sapiens_hsa051520.52699763
65TNF signaling pathway_Homo sapiens_hsa046680.49414548
66Base excision repair_Homo sapiens_hsa034100.46671680
67Fatty acid elongation_Homo sapiens_hsa000620.45955143
68Sulfur metabolism_Homo sapiens_hsa009200.43340667
69Peroxisome_Homo sapiens_hsa041460.42108611
70Spliceosome_Homo sapiens_hsa030400.42002836
71alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.40594902
72Purine metabolism_Homo sapiens_hsa002300.40241390
73Non-homologous end-joining_Homo sapiens_hsa034500.39929237
74Toxoplasmosis_Homo sapiens_hsa051450.39134231
75Fanconi anemia pathway_Homo sapiens_hsa034600.39111769
76Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.38125674
77Pertussis_Homo sapiens_hsa051330.36839504
78p53 signaling pathway_Homo sapiens_hsa041150.34039807
79N-Glycan biosynthesis_Homo sapiens_hsa005100.32802789
80Transcriptional misregulation in cancer_Homo sapiens_hsa052020.32781703
81RNA degradation_Homo sapiens_hsa030180.30347895
82Nitrogen metabolism_Homo sapiens_hsa009100.29254284
83Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.27966802
84Linoleic acid metabolism_Homo sapiens_hsa005910.26581650
85Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.26225912
86Viral carcinogenesis_Homo sapiens_hsa052030.25528653
87Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.24587377
88Phagosome_Homo sapiens_hsa041450.22604147
89Endocytosis_Homo sapiens_hsa041440.22053365
90Platelet activation_Homo sapiens_hsa046110.21885506
91Lysosome_Homo sapiens_hsa041420.21003097
92Drug metabolism - other enzymes_Homo sapiens_hsa009830.19280107
93Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.18747562
94Arachidonic acid metabolism_Homo sapiens_hsa005900.17679375
95Caffeine metabolism_Homo sapiens_hsa002320.15823552
96Hepatitis B_Homo sapiens_hsa051610.15804285
97Collecting duct acid secretion_Homo sapiens_hsa049660.15192359
98RNA transport_Homo sapiens_hsa030130.13433600
99Phototransduction_Homo sapiens_hsa047440.12947706
100Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.11263405

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