CD53

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: The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.92954227
2positive regulation of gamma-delta T cell activation (GO:0046645)5.06828365
3neutrophil activation involved in immune response (GO:0002283)4.91638176
4regulation of B cell receptor signaling pathway (GO:0050855)4.85852923
5leukocyte aggregation (GO:0070486)4.50904361
6antigen processing and presentation of endogenous antigen (GO:0019883)4.45968686
7immunoglobulin mediated immune response (GO:0016064)4.31585144
8detection of other organism (GO:0098543)4.29895733
9respiratory burst (GO:0045730)4.27752903
10antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.22919625
11antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.22919625
12positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.20448839
13detection of bacterium (GO:0016045)4.17399262
14positive regulation by symbiont of host defense response (GO:0052509)4.14130863
15modulation by symbiont of host defense response (GO:0052031)4.14130863
16modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.14130863
17modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.14130863
18positive regulation by organism of defense response of other organism involved in symbiotic interact4.14130863
19modulation by symbiont of host immune response (GO:0052553)4.14130863
20positive regulation of interleukin-2 biosynthetic process (GO:0045086)4.07604851
21response to peptidoglycan (GO:0032494)4.00227365
22T cell migration (GO:0072678)3.94368896
23positive regulation of interferon-alpha production (GO:0032727)3.93433472
24regulation of interferon-alpha production (GO:0032647)3.87023179
25interferon-gamma production (GO:0032609)3.85004145
26mast cell activation (GO:0045576)3.82928221
27negative thymic T cell selection (GO:0045060)3.80216484
28negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.78109868
29negative regulation of cell killing (GO:0031342)3.78109868
30neutrophil activation (GO:0042119)3.74486246
31granulocyte activation (GO:0036230)3.74161644
32negative T cell selection (GO:0043383)3.73154758
33negative regulation of lymphocyte mediated immunity (GO:0002707)3.70777393
34regulation of interleukin-12 biosynthetic process (GO:0045075)3.69804649
35cellular response to zinc ion (GO:0071294)3.69357049
36regulation of interferon-beta biosynthetic process (GO:0045357)3.68313542
37regulation of B cell differentiation (GO:0045577)3.64749854
38negative regulation of T cell mediated immunity (GO:0002710)3.64716682
39detection of external biotic stimulus (GO:0098581)3.62327017
40defense response to protozoan (GO:0042832)3.58770762
41Arp2/3 complex-mediated actin nucleation (GO:0034314)3.57014745
42regulation of gamma-delta T cell differentiation (GO:0045586)3.53163629
43positive thymic T cell selection (GO:0045059)3.53048046
44regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.49602079
45regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.48458219
46interferon-gamma-mediated signaling pathway (GO:0060333)3.48402067
47myeloid cell activation involved in immune response (GO:0002275)3.48036792
48B cell receptor signaling pathway (GO:0050853)3.47044312
49regulation of gamma-delta T cell activation (GO:0046643)3.45913685
50cellular response to type I interferon (GO:0071357)3.44926984
51type I interferon signaling pathway (GO:0060337)3.44926984
52response to type I interferon (GO:0034340)3.44494675
53negative regulation of leukocyte mediated immunity (GO:0002704)3.42407764
54T cell selection (GO:0045058)3.40264363
55regulation of alpha-beta T cell proliferation (GO:0046640)3.39935413
56regulation of tolerance induction (GO:0002643)3.38601540
57macrophage activation involved in immune response (GO:0002281)3.38054382
58positive regulation of antigen processing and presentation (GO:0002579)3.37611009
59detection of molecule of bacterial origin (GO:0032490)3.35635576
60cellular extravasation (GO:0045123)3.35548425
61response to protozoan (GO:0001562)3.35170217
62B cell mediated immunity (GO:0019724)3.35018702
63positive regulation of mast cell activation (GO:0033005)3.34950628
64positive regulation of B cell differentiation (GO:0045579)3.34017067
65response to host immune response (GO:0052572)3.32915754
66response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.32915754
67positive regulation of alpha-beta T cell proliferation (GO:0046641)3.31463502
68regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.31251765
69myeloid dendritic cell activation (GO:0001773)3.30433213
70positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.28458558
71production of molecular mediator involved in inflammatory response (GO:0002532)3.28384448
72cellular response to interferon-beta (GO:0035458)3.27205188
73regulation of dendritic cell antigen processing and presentation (GO:0002604)3.26614542
74microglial cell activation (GO:0001774)3.26529736
75lipopolysaccharide-mediated signaling pathway (GO:0031663)3.22149522
76detection of biotic stimulus (GO:0009595)3.21151477
77regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.20545444
78regulation of natural killer cell mediated immunity (GO:0002715)3.20545444
79regulation of T cell mediated cytotoxicity (GO:0001914)3.20321709
80antigen processing and presentation via MHC class Ib (GO:0002475)3.20154252
81regulation of regulatory T cell differentiation (GO:0045589)3.18673135
82cellular response to interleukin-15 (GO:0071350)3.17205128
83tolerance induction (GO:0002507)3.12700147
84response to interleukin-15 (GO:0070672)3.12123065
85positive regulation of B cell mediated immunity (GO:0002714)3.10272215
86positive regulation of immunoglobulin mediated immune response (GO:0002891)3.10272215
87positive regulation of isotype switching (GO:0045830)3.10000319
88myeloid dendritic cell differentiation (GO:0043011)3.09490407
89positive regulation of interleukin-2 production (GO:0032743)3.07390776
90negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.07161422
91positive regulation of T cell mediated cytotoxicity (GO:0001916)3.06815024
92regulation of interleukin-2 biosynthetic process (GO:0045076)3.04698691
93leukocyte cell-cell adhesion (GO:0007159)3.04322670
94positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.03371761
95regulation of isotype switching to IgG isotypes (GO:0048302)3.03274278
96positive regulation of inflammatory response to antigenic stimulus (GO:0002863)3.02100769
97antigen receptor-mediated signaling pathway (GO:0050851)3.01579677
98positive regulation of mast cell degranulation (GO:0043306)3.01469731
99positive regulation of mast cell activation involved in immune response (GO:0033008)3.01469731
100negative regulation of interleukin-12 production (GO:0032695)3.00393775
101hydrogen peroxide biosynthetic process (GO:0050665)2.99728001
102macrophage activation (GO:0042116)2.99268855
103response to host (GO:0075136)2.99019933
104response to host defenses (GO:0052200)2.99019933
105response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.99019933
106regulation of antigen processing and presentation (GO:0002577)2.98499546
107germinal center formation (GO:0002467)2.97375441
108myeloid leukocyte activation (GO:0002274)2.97048739
109natural killer cell mediated immunity (GO:0002228)2.96470827
110natural killer cell mediated cytotoxicity (GO:0042267)2.96470827
111positive regulation of macrophage differentiation (GO:0045651)2.95612540
112response to muramyl dipeptide (GO:0032495)2.94937412
113regulation of mast cell activation (GO:0033003)2.94630114
114regulation of mast cell activation involved in immune response (GO:0033006)2.93155881
115negative regulation of innate immune response (GO:0045824)2.91997271
116positive regulation of tolerance induction (GO:0002645)2.90101881
117thymic T cell selection (GO:0045061)2.89520870
118positive regulation of interferon-gamma production (GO:0032729)2.89511864
119positive regulation of interferon-beta production (GO:0032728)2.88983609
120reactive oxygen species biosynthetic process (GO:1903409)2.88923674
121positive regulation of cytokine biosynthetic process (GO:0042108)2.86769870
122regulation of mast cell degranulation (GO:0043304)2.86058607
123regulation of T cell receptor signaling pathway (GO:0050856)2.85560985
124leukocyte degranulation (GO:0043299)2.84030693
125NIK/NF-kappaB signaling (GO:0038061)2.83390713
126regulation of T cell tolerance induction (GO:0002664)2.82422996
127superoxide anion generation (GO:0042554)2.82360983
128cellular defense response (GO:0006968)2.81354764
129positive regulation of chemokine biosynthetic process (GO:0045080)2.79602213
130positive T cell selection (GO:0043368)2.79530975
131leukocyte mediated cytotoxicity (GO:0001909)2.76502971

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human6.27774456
2BP1_19119308_ChIP-ChIP_Hs578T_Human5.96358252
3* IRF8_21731497_ChIP-ChIP_J774_Mouse5.72369437
4* FOXP3_17237761_ChIP-ChIP_TREG_Mouse5.17947407
5* IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.47565206
6STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.27564466
7IRF8_27001747_Chip-Seq_BMDM_Mouse3.84217318
8* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.67087991
9IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.59782378
10* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.56288717
11* STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.37586243
12NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.32186767
13* SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.30872855
14* STAT4_19710469_ChIP-ChIP_TH1__Mouse3.16681073
15MYB_21317192_ChIP-Seq_ERMYB_Mouse2.94334582
16E2F7_22180533_ChIP-Seq_HELA_Human2.61112419
17* MYB_26560356_Chip-Seq_TH2_Human2.57106170
18* RUNX_20019798_ChIP-Seq_JUKART_Human2.53499999
19EGR1_19374776_ChIP-ChIP_THP-1_Human2.49641094
20* SPI1_23547873_ChIP-Seq_NB4_Human2.48235504
21FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.39224240
22Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.38344246
23RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.30699182
24RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.25019875
25* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.18720356
26* MAF_26560356_Chip-Seq_TH1_Human2.15549927
27* BRD4_27068464_Chip-Seq_AML-cells_Mouse2.13980255
28NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.10544834
29MYB_26560356_Chip-Seq_TH1_Human2.08664742
30SCL_19346495_ChIP-Seq_HPC-7_Human2.04825850
31* RUNX1_22412390_ChIP-Seq_EML_Mouse1.97366311
32FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.89240610
33VDR_24763502_ChIP-Seq_THP-1_Human1.88945516
34* ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.86914149
35NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.84714976
36VDR_21846776_ChIP-Seq_THP-1_Human1.81386566
37UTX_26944678_Chip-Seq_JUKART_Human1.74648351
38MYC_22102868_ChIP-Seq_BL_Human1.73231050
39PU_27001747_Chip-Seq_BMDM_Mouse1.73028654
40MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.72223582
41PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.65189386
42CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.61791745
43GATA3_27048872_Chip-Seq_THYMUS_Human1.61449623
44* SPI1_23127762_ChIP-Seq_K562_Human1.60139795
45CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.54490731
46E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.49770297
47LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.42892171
48* GATA2_22383799_ChIP-Seq_G1ME_Mouse1.37092807
49* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.36920612
50STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.36763482
51NOTCH1_21737748_ChIP-Seq_TLL_Human1.36699894
52SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.35906637
53MAF_26560356_Chip-Seq_TH2_Human1.31036045
54* GATA3_26560356_Chip-Seq_TH2_Human1.29397974
55PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.28972044
56CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.28867598
57ELF1_17652178_ChIP-ChIP_JURKAT_Human1.28813914
58TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.27228814
59VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.26802454
60LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.26268610
61VDR_24787735_ChIP-Seq_THP-1_Human1.23015258
62TCF7_22412390_ChIP-Seq_EML_Mouse1.17626570
63* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.16190741
64SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.13937890
65PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.12516697
66PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.11445223
67CIITA_25753668_ChIP-Seq_RAJI_Human1.11351778
68VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.10912359
69BCL6_27268052_Chip-Seq_Bcells_Human1.08816099
70GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.06360162
71GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.05638459
72ERG_20887958_ChIP-Seq_HPC-7_Mouse1.03502012
73GATA1_22383799_ChIP-Seq_G1ME_Mouse0.99741451
74GATA1_19941826_ChIP-Seq_K562_Human0.99159814
75PU.1_20513432_ChIP-Seq_Bcells_Mouse0.95832318
76GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95650699
77KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.95626910
78NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.94315773
79GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93942873
80BCOR_27268052_Chip-Seq_Bcells_Human0.91349278
81SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.90853914
82GATA1_22025678_ChIP-Seq_K562_Human0.90086984
83* RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.88854590
84TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.85409659
85TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.83340172
86EGR1_19032775_ChIP-ChIP_M12_Human0.82820897
87LXR_22292898_ChIP-Seq_THP-1_Human0.82085198
88RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81891373
89VDR_23849224_ChIP-Seq_CD4+_Human0.80831746
90TFEB_21752829_ChIP-Seq_HELA_Human0.79774139
91SMAD_19615063_ChIP-ChIP_OVARY_Human0.79352908
92STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.79213475
93ELF1_20517297_ChIP-Seq_JURKAT_Human0.78995993
94SMRT_27268052_Chip-Seq_Bcells_Human0.77256698
95THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.76670646
96ELK1_19687146_ChIP-ChIP_HELA_Human0.76604317
97KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.75349624
98STAT6_21828071_ChIP-Seq_BEAS2B_Human0.75141905
99NCOR1_26117541_ChIP-Seq_K562_Human0.74015045
100CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.73665059
101EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.72289531
102GATA1_19941827_ChIP-Seq_MEL_Mouse0.72163400
103FOXM1_23109430_ChIP-Seq_U2OS_Human0.71207761
104ELK3_25401928_ChIP-Seq_HUVEC_Human0.70849408
105GATA2_21666600_ChIP-Seq_HMVEC_Human0.69208978
106KDM2B_26808549_Chip-Seq_DND41_Human0.68382837
107E2F4_17652178_ChIP-ChIP_JURKAT_Human0.65589634
108SPI1_20517297_ChIP-Seq_HL60_Human0.64222627
109* ETS1_22383799_ChIP-Seq_G1ME_Mouse0.61337232
110FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.59027646
111SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.57825520
112NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.57604830
113KDM2B_26808549_Chip-Seq_SUP-B15_Human0.57276864
114GATA2_19941826_ChIP-Seq_K562_Human0.56924185
115IKZF1_21737484_ChIP-ChIP_HCT116_Human0.55544645

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.92473310
2MP0005671_abnormal_response_to4.07963768
3MP0003436_decreased_susceptibility_to3.73524367
4MP0009785_altered_susceptibility_to3.69028433
5MP0002148_abnormal_hypersensitivity_rea3.50354286
6MP0005000_abnormal_immune_tolerance3.46553932
7MP0006082_CNS_inflammation3.30376745
8MP0001800_abnormal_humoral_immune3.11904558
9MP0005025_abnormal_response_to3.10000096
10MP0002419_abnormal_innate_immunity3.07179329
11MP0003303_peritoneal_inflammation3.02308819
12MP0002452_abnormal_antigen_presenting2.99454764
13MP0005387_immune_system_phenotype2.97775841
14MP0001790_abnormal_immune_system2.97775841
15MP0000685_abnormal_immune_system2.97379210
16MP0002723_abnormal_immune_serum2.89424257
17MP0003724_increased_susceptibility_to2.87756733
18MP0002420_abnormal_adaptive_immunity2.75392383
19MP0001819_abnormal_immune_cell2.75377779
20MP0003763_abnormal_thymus_physiology2.54279562
21MP0002405_respiratory_system_inflammati2.33251296
22MP0002006_tumorigenesis2.25087706
23MP0005464_abnormal_platelet_physiology2.21733458
24MP0002398_abnormal_bone_marrow2.18723607
25MP0000716_abnormal_immune_system2.12666941
26MP0002166_altered_tumor_susceptibility2.12466410
27MP0009333_abnormal_splenocyte_physiolog2.06875196
28MP0005058_abnormal_lysosome_morphology2.04667010
29MP0001853_heart_inflammation1.99372171
30MP0001845_abnormal_inflammatory_respons1.97829647
31MP0004510_myositis1.91757731
32MP0010155_abnormal_intestine_physiology1.89432238
33MP0001533_abnormal_skeleton_physiology1.87603726
34MP0000689_abnormal_spleen_morphology1.84437771
35MP0004947_skin_inflammation1.83054486
36MP0002722_abnormal_immune_system1.74089997
37MP0002429_abnormal_blood_cell1.73363371
38MP0003448_altered_tumor_morphology1.66258785
39MP0008469_abnormal_protein_level1.61130682
40MP0000858_altered_metastatic_potential1.60765741
41MP0009764_decreased_sensitivity_to1.55496027
42MP0000343_altered_response_to1.50461768
43MP0005310_abnormal_salivary_gland1.48697172
44MP0003300_gastrointestinal_ulcer1.46955845
45MP0003172_abnormal_lysosome_physiology1.44431459
46MP0002933_joint_inflammation1.41188903
47MP0001873_stomach_inflammation1.38188318
48MP0002396_abnormal_hematopoietic_system1.36477028
49MP0000703_abnormal_thymus_morphology1.30622131
50MP0005451_abnormal_body_composition1.29745058
51MP0005397_hematopoietic_system_phenotyp1.26214405
52MP0001545_abnormal_hematopoietic_system1.26214405
53MP0002998_abnormal_bone_remodeling1.24967295
54MP0003191_abnormal_cellular_cholesterol1.23964173
55MP0003866_abnormal_defecation1.17485277
56MP0003075_altered_response_to1.14886201
57MP0009278_abnormal_bone_marrow1.11436780
58MP0000465_gastrointestinal_hemorrhage1.10432020
59MP0005166_decreased_susceptibility_to1.07923415
60MP0004808_abnormal_hematopoietic_stem1.05348725
61MP0003806_abnormal_nucleotide_metabolis1.03124782
62MP0005174_abnormal_tail_pigmentation1.00983282
63MP0001851_eye_inflammation0.99482763
64MP0000490_abnormal_crypts_of0.98822848
65MP0009763_increased_sensitivity_to0.91353806
66MP0010307_abnormal_tumor_latency0.85249674
67MP0003183_abnormal_peptide_metabolism0.83645861
68MP0005390_skeleton_phenotype0.82487389
69MP0002019_abnormal_tumor_incidence0.79414774
70MP0003045_fibrosis0.77201564
71MP0000569_abnormal_digit_pigmentation0.76706771
72MP0004782_abnormal_surfactant_physiolog0.74547832
73MP0003828_pulmonary_edema0.74476293
74MP0000604_amyloidosis0.73492300
75MP0000249_abnormal_blood_vessel0.70941870
76MP0002277_abnormal_respiratory_mucosa0.70367165
77MP0008004_abnormal_stomach_pH0.69827472
78MP0009840_abnormal_foam_cell0.68738792
79MP0003795_abnormal_bone_structure0.68144738
80MP0003656_abnormal_erythrocyte_physiolo0.67315522
81MP0003690_abnormal_glial_cell0.67071239
82MP0000371_diluted_coat_color0.67046048
83MP0003186_abnormal_redox_activity0.66122178
84MP0000015_abnormal_ear_pigmentation0.64565312
85MP0002132_abnormal_respiratory_system0.64386000
86MP0008057_abnormal_DNA_replication0.64167378
87MP0002138_abnormal_hepatobiliary_system0.62967567
88MP0005164_abnormal_response_to0.62247835
89MP0005076_abnormal_cell_differentiation0.62162621
90MP0001663_abnormal_digestive_system0.60912837
91MP0002136_abnormal_kidney_physiology0.60728833
92MP0005167_abnormal_blood-brain_barrier0.60612895
93MP0010352_gastrointestinal_tract_polyps0.60207139
94MP0005075_abnormal_melanosome_morpholog0.58505398
95MP0008873_increased_physiological_sensi0.58369348
96MP0008874_decreased_physiological_sensi0.57125820
97MP0005023_abnormal_wound_healing0.53544908
98MP0004381_abnormal_hair_follicle0.52015930
99MP0003453_abnormal_keratinocyte_physiol0.51342859
100MP0000920_abnormal_myelination0.51079994
101MP0002693_abnormal_pancreas_physiology0.50580399
102MP0005319_abnormal_enzyme/_coenzyme0.48097378
103MP0009765_abnormal_xenobiotic_induced0.47335865
104MP0001986_abnormal_taste_sensitivity0.47107984
105MP0004883_abnormal_blood_vessel0.45027204
106MP0008260_abnormal_autophagy0.44928336
107MP0008007_abnormal_cellular_replicative0.44443539
108MP0000609_abnormal_liver_physiology0.42759094
109MP0002009_preneoplasia0.42377990
110MP0005584_abnormal_enzyme/coenzyme_acti0.41432673
111MP0005381_digestive/alimentary_phenotyp0.39187830

Predicted human phenotypes

RankGene SetZ-score
1Eczematoid dermatitis (HP:0000976)6.86127847
2Recurrent abscess formation (HP:0002722)6.82467582
3Recurrent bacterial skin infections (HP:0005406)5.98792428
4Recurrent gram-negative bacterial infections (HP:0005420)5.18238020
5Elevated erythrocyte sedimentation rate (HP:0003565)4.96366438
6Myositis (HP:0100614)4.66786483
7Mediastinal lymphadenopathy (HP:0100721)4.64652347
8Stomatitis (HP:0010280)4.61279654
9Recurrent fungal infections (HP:0002841)4.36411629
10Abnormality of macrophages (HP:0004311)4.35612348
11Chronic obstructive pulmonary disease (HP:0006510)4.18011043
12Obstructive lung disease (HP:0006536)4.18011043
13Optic neuritis (HP:0100653)4.15251877
14Retrobulbar optic neuritis (HP:0100654)4.15251877
15Recurrent skin infections (HP:0001581)4.11035521
16Orchitis (HP:0100796)4.02432051
17Recurrent viral infections (HP:0004429)3.78607370
18Vasculitis (HP:0002633)3.70891356
19Abnormality of T cell number (HP:0011839)3.69933102
20Meningitis (HP:0001287)3.69640540
21Gingivitis (HP:0000230)3.66480465
22Vacuolated lymphocytes (HP:0001922)3.65971085
23T lymphocytopenia (HP:0005403)3.64320788
24Chronic mucocutaneous candidiasis (HP:0002728)3.59097042
25Recurrent cutaneous fungal infections (HP:0011370)3.59097042
26Autoimmune thrombocytopenia (HP:0001973)3.54179488
27IgM deficiency (HP:0002850)3.53430163
28Recurrent bronchitis (HP:0002837)3.48285011
29Increased IgM level (HP:0003496)3.36456914
30Abnormality of T cells (HP:0002843)3.26311705
31Systemic lupus erythematosus (HP:0002725)3.22437096
32Cellulitis (HP:0100658)3.20812923
33Chronic otitis media (HP:0000389)3.19872963
34Pustule (HP:0200039)3.19636216
35Pulmonary infiltrates (HP:0002113)3.11373921
36Increased IgE level (HP:0003212)3.04189125
37Severe combined immunodeficiency (HP:0004430)3.02306488
38Combined immunodeficiency (HP:0005387)3.00413171
39IgG deficiency (HP:0004315)2.98727333
40Increased neuronal autofluorescent lipopigment (HP:0002074)2.94700243
41Agammaglobulinemia (HP:0004432)2.92649539
42Increased cerebral lipofuscin (HP:0011813)2.92421056
43Chronic diarrhea (HP:0002028)2.83117051
44Thyroiditis (HP:0100646)2.82876319
45Recurrent pneumonia (HP:0006532)2.82747391
46Lymphopenia (HP:0001888)2.82409770
47Keratoconjunctivitis sicca (HP:0001097)2.82047467
48Abnormality of T cell physiology (HP:0011840)2.80751504
49Periodontitis (HP:0000704)2.80553783
50Leukocytosis (HP:0001974)2.79493219
51Hemoptysis (HP:0002105)2.78406505
52Basal ganglia calcification (HP:0002135)2.78191250
53Abnormality of cells of the lymphoid lineage (HP:0012140)2.77155693
54Arterial thrombosis (HP:0004420)2.73150136
55Interstitial pulmonary disease (HP:0006530)2.72496703
56Hypergammaglobulinemia (HP:0010702)2.67246153
57Gastrointestinal stroma tumor (HP:0100723)2.65854699
58IgA deficiency (HP:0002720)2.64589670
59Panhypogammaglobulinemia (HP:0003139)2.64549479
60Recurrent sinusitis (HP:0011108)2.61898099
61Pulmonary embolism (HP:0002204)2.60617611
62Abnormality of glycolipid metabolism (HP:0010969)2.60413469
63Abnormality of liposaccharide metabolism (HP:0010968)2.60413469
64Abnormality of glycosphingolipid metabolism (HP:0004343)2.60413469
65Inflammation of the large intestine (HP:0002037)2.59503973
66Spontaneous hematomas (HP:0007420)2.58652808
67Keratoconjunctivitis (HP:0001096)2.56139232
68Osteomyelitis (HP:0002754)2.53368414
69Encephalitis (HP:0002383)2.52551219
70Petechiae (HP:0000967)2.51212326
71Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.50591337
72Abnormal delayed hypersensitivity skin test (HP:0002963)2.50329830
73Prolonged bleeding time (HP:0003010)2.49680731
74Abnormality of the prostate (HP:0008775)2.49528886
75Urticaria (HP:0001025)2.49212266
76Recurrent lower respiratory tract infections (HP:0002783)2.47917747
77Gastrointestinal infarctions (HP:0005244)2.46543217
78Gastrointestinal inflammation (HP:0004386)2.44676359
79B lymphocytopenia (HP:0010976)2.44103928
80Abnormality of B cell number (HP:0010975)2.44103928
81Abnormality of eosinophils (HP:0001879)2.43069881
82Eosinophilia (HP:0001880)2.42576886
83Anorexia (HP:0002039)2.41852738
84Colitis (HP:0002583)2.38452848
85Nasal polyposis (HP:0100582)2.35573462
86Thrombocytosis (HP:0001894)2.33684112
87Dysostosis multiplex (HP:0000943)2.33564715
88Disinhibition (HP:0000734)2.32884135
89Autoimmune hemolytic anemia (HP:0001890)2.28552538
90Glomerulonephritis (HP:0000099)2.27396691
91Skin rash (HP:0000988)2.24112753
92Restrictive lung disease (HP:0002091)2.20851295
93Sepsis (HP:0100806)2.20338281
94Papilloma (HP:0012740)2.19776951
95Verrucae (HP:0200043)2.19776951
96Hypochromic anemia (HP:0001931)2.19020489
97Gingival bleeding (HP:0000225)2.19008597
98Loss of speech (HP:0002371)2.16420767
99Hepatosplenomegaly (HP:0001433)2.16412260
100Agnosia (HP:0010524)2.15735584
101Granulocytopenia (HP:0001913)2.15049820
102Epistaxis (HP:0000421)2.14906494
103Episodic fever (HP:0001954)2.14756323
104Joint swelling (HP:0001386)2.13293691
105Glomerulopathy (HP:0100820)2.12809687
106Lymphoma (HP:0002665)2.12692817
107Gangrene (HP:0100758)2.12262132
108Polyneuropathy (HP:0001271)2.11723685
109Arthralgia (HP:0002829)2.07791916
110Skin ulcer (HP:0200042)2.06402580
111Abnormality of the pleura (HP:0002103)2.05733284
112Chest pain (HP:0100749)2.05400242
113Purpura (HP:0000979)2.04399831
114Amaurosis fugax (HP:0100576)2.03098339
115Abnormality of the nasal mucosa (HP:0000433)2.02847504

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TXK4.67062149
2MAP4K14.44320956
3BLK3.67921452
4MAP3K143.58011178
5IRAK43.20536009
6RIPK43.09319431
7TBK12.87959023
8TYK22.68032958
9JAK32.65949034
10IKBKE2.56491098
11ZAP702.51688935
12KIT2.40136999
13IRAK32.08814114
14PRPF4B2.00940477
15TEC1.98757035
16IKBKB1.96925735
17JAK11.93630748
18PBK1.93607807
19ITK1.93501349
20SYK1.89980232
21BTK1.85167654
22STK101.75670886
23CSK1.67103784
24CSF1R1.65863612
25LCK1.56909377
26TGFBR21.52105401
27LYN1.46573688
28HCK1.43401928
29PIM21.43383545
30NME21.40025631
31MST41.38578668
32PIM11.28275401
33CLK11.27545979
34NEK91.22376619
35NLK1.20252315
36MAP3K131.19545062
37GRK61.18539883
38FGFR31.16719631
39MAP3K31.16448982
40ERN11.15023278
41TAOK11.14437246
42FGFR41.12781634
43CHUK1.11894004
44RPS6KA41.07465032
45MAP3K121.03544898
46FES1.00103903
47JAK20.99319171
48MARK30.98740992
49KDR0.97778158
50TESK20.96708319
51TAOK30.94601013
52STK40.94363466
53GRK70.92690720
54MAP3K10.91963142
55TAOK20.91623425
56CDK190.90768275
57EIF2AK30.86738668
58LRRK20.82923549
59PRKCQ0.80332414
60MAP2K30.72386931
61EIF2AK20.68394591
62FLT30.68080804
63SIK30.67710878
64MATK0.65903131
65BMPR20.64593647
66ADRBK20.64562772
67CAMKK20.61332995
68EPHB10.61055710
69MAPK70.60884441
70TRPM70.60272362
71IRAK10.60140064
72MAPK120.59397090
73MAP3K110.58520181
74PRKCD0.58506146
75MAP3K100.57460613
76KSR20.56801675
77CDC42BPA0.54157187
78ABL10.52532771
79PDPK10.52325134
80FGR0.50711827
81YES10.49168070
82IRAK20.47741211
83SMG10.45208120
84HIPK20.45206181
85CAMKK10.43082212
86MAP2K60.42760968
87TNK20.42457740
88PDK10.41351812
89EGFR0.40400866
90PRKCH0.38620795
91MAPKAPK20.38409986
92PRKD20.37074950
93TESK10.37021286
94MARK20.36105777
95FYN0.34895142
96CDK60.33217646
97IGF1R0.32035213
98RPS6KA60.31749334
99ABL20.31666537
100CDK40.31425396
101BMX0.31271631
102MAP3K50.31061276
103EIF2AK10.30736816
104SIK20.29689468
105MOS0.28031611
106MAP2K20.26759219
107TLK10.23185265
108NUAK10.22699289
109RAF10.22612881
110PTK60.22228872
111EPHA30.21833199
112INSR0.21809808
113MAPK40.20797921
114RPS6KA50.20657982
115MAP3K80.20594112
116SCYL20.20234683
117MAP3K70.19678261
118ACVR1B0.18542169
119STK240.18286943
120RPS6KL10.17373165
121RPS6KC10.17373165
122MAPK110.17096502
123PIK3CG0.16199826
124MAPK30.14578687

Predicted pathways (KEGG)

RankGene SetZ-score
1Graft-versus-host disease_Homo sapiens_hsa053323.62298845
2Allograft rejection_Homo sapiens_hsa053303.23291702
3Leishmaniasis_Homo sapiens_hsa051403.11508579
4Primary immunodeficiency_Homo sapiens_hsa053403.10788396
5Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.73093125
6Staphylococcus aureus infection_Homo sapiens_hsa051502.64742164
7NF-kappa B signaling pathway_Homo sapiens_hsa040642.60312667
8Intestinal immune network for IgA production_Homo sapiens_hsa046722.57715151
9Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.33146953
10Measles_Homo sapiens_hsa051622.32727711
11Osteoclast differentiation_Homo sapiens_hsa043802.30806516
12Legionellosis_Homo sapiens_hsa051342.26350161
13Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.24973484
14Toll-like receptor signaling pathway_Homo sapiens_hsa046202.24307828
15Asthma_Homo sapiens_hsa053102.10138969
16Antigen processing and presentation_Homo sapiens_hsa046122.07482280
17Type I diabetes mellitus_Homo sapiens_hsa049402.00325287
18Hematopoietic cell lineage_Homo sapiens_hsa046401.99946528
19Pertussis_Homo sapiens_hsa051331.95263510
20RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.92867106
21B cell receptor signaling pathway_Homo sapiens_hsa046621.92510516
22NOD-like receptor signaling pathway_Homo sapiens_hsa046211.91692910
23Tuberculosis_Homo sapiens_hsa051521.91140964
24Autoimmune thyroid disease_Homo sapiens_hsa053201.90409787
25Malaria_Homo sapiens_hsa051441.81251059
26T cell receptor signaling pathway_Homo sapiens_hsa046601.74266838
27Rheumatoid arthritis_Homo sapiens_hsa053231.65323853
28Salmonella infection_Homo sapiens_hsa051321.59502923
29Herpes simplex infection_Homo sapiens_hsa051681.55252086
30Influenza A_Homo sapiens_hsa051641.51330273
31Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.49453941
32Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.47555088
33Viral myocarditis_Homo sapiens_hsa054161.45857356
34Lysosome_Homo sapiens_hsa041421.45555432
35Jak-STAT signaling pathway_Homo sapiens_hsa046301.44759174
36Other glycan degradation_Homo sapiens_hsa005111.42900697
37TNF signaling pathway_Homo sapiens_hsa046681.42898759
38Toxoplasmosis_Homo sapiens_hsa051451.41902613
39Chemokine signaling pathway_Homo sapiens_hsa040621.40116757
40Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.36174016
41Shigellosis_Homo sapiens_hsa051311.24871555
42Apoptosis_Homo sapiens_hsa042101.22967210
43Phagosome_Homo sapiens_hsa041451.19136142
44Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.18115886
45Glycosaminoglycan degradation_Homo sapiens_hsa005311.14474845
46Hepatitis B_Homo sapiens_hsa051611.09514451
47Leukocyte transendothelial migration_Homo sapiens_hsa046701.06566560
48African trypanosomiasis_Homo sapiens_hsa051431.03460259
49Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.90916949
50Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.89416355
51AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.81305506
52Acute myeloid leukemia_Homo sapiens_hsa052210.79074585
53Epstein-Barr virus infection_Homo sapiens_hsa051690.73013650
54Hepatitis C_Homo sapiens_hsa051600.72213622
55Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.71194566
56Platelet activation_Homo sapiens_hsa046110.69813246
57Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.63377011
58Transcriptional misregulation in cancer_Homo sapiens_hsa052020.62729920
59Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.60080584
60Pancreatic cancer_Homo sapiens_hsa052120.59286772
61Chronic myeloid leukemia_Homo sapiens_hsa052200.54504503
62Viral carcinogenesis_Homo sapiens_hsa052030.53382005
63Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.52145772
64Proteasome_Homo sapiens_hsa030500.52131467
65Neurotrophin signaling pathway_Homo sapiens_hsa047220.50988333
66HTLV-I infection_Homo sapiens_hsa051660.50849425
67DNA replication_Homo sapiens_hsa030300.50797302
68Amoebiasis_Homo sapiens_hsa051460.47784619
69Base excision repair_Homo sapiens_hsa034100.47574405
70Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.42139201
71Prolactin signaling pathway_Homo sapiens_hsa049170.41463223
72Carbohydrate digestion and absorption_Homo sapiens_hsa049730.39654103
73Sphingolipid signaling pathway_Homo sapiens_hsa040710.38871637
74p53 signaling pathway_Homo sapiens_hsa041150.38533282
75SNARE interactions in vesicular transport_Homo sapiens_hsa041300.38418891
76Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.35804531
77Prion diseases_Homo sapiens_hsa050200.32659391
78Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.32517178
79Complement and coagulation cascades_Homo sapiens_hsa046100.31927676
80Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.31601728
81Renal cell carcinoma_Homo sapiens_hsa052110.30819685
82VEGF signaling pathway_Homo sapiens_hsa043700.29618678
83Systemic lupus erythematosus_Homo sapiens_hsa053220.29597543
84Endocytosis_Homo sapiens_hsa041440.29397828
85Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.28514661
86Phospholipase D signaling pathway_Homo sapiens_hsa040720.26459908
87Regulation of actin cytoskeleton_Homo sapiens_hsa048100.26445972
88HIF-1 signaling pathway_Homo sapiens_hsa040660.26445714
89Collecting duct acid secretion_Homo sapiens_hsa049660.25743824
90Non-homologous end-joining_Homo sapiens_hsa034500.25306746
91Small cell lung cancer_Homo sapiens_hsa052220.24445620
92Regulation of autophagy_Homo sapiens_hsa041400.23727306
93Phosphatidylinositol signaling system_Homo sapiens_hsa040700.23502064
94Homologous recombination_Homo sapiens_hsa034400.22036984
95Caffeine metabolism_Homo sapiens_hsa002320.20255105
96Insulin resistance_Homo sapiens_hsa049310.19411075
97Adipocytokine signaling pathway_Homo sapiens_hsa049200.17264844
98Colorectal cancer_Homo sapiens_hsa052100.17190633
99Mismatch repair_Homo sapiens_hsa034300.16167324
100Dorso-ventral axis formation_Homo sapiens_hsa043200.16156786
101Type II diabetes mellitus_Homo sapiens_hsa049300.15989164
102GnRH signaling pathway_Homo sapiens_hsa049120.15448920
103Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.15245613
104FoxO signaling pathway_Homo sapiens_hsa040680.14393401
105Glycerophospholipid metabolism_Homo sapiens_hsa005640.13740667
106Pentose phosphate pathway_Homo sapiens_hsa000300.13385375
107Notch signaling pathway_Homo sapiens_hsa043300.13202768
108Choline metabolism in cancer_Homo sapiens_hsa052310.12975031
109Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.12743357
110Ribosome_Homo sapiens_hsa030100.12030455
111Non-small cell lung cancer_Homo sapiens_hsa052230.11392619
112mTOR signaling pathway_Homo sapiens_hsa041500.11217182
113Inositol phosphate metabolism_Homo sapiens_hsa005620.10427768
114Renin-angiotensin system_Homo sapiens_hsa046140.10029179
115Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.09410497
116MAPK signaling pathway_Homo sapiens_hsa040100.09176398
117MicroRNAs in cancer_Homo sapiens_hsa052060.03957287

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