CD48

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 CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. 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 (G5.37696388
2antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.35458102
3antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.35458102
4antigen processing and presentation of endogenous antigen (GO:0019883)5.23831324
5positive regulation of gamma-delta T cell activation (GO:0046645)4.99932036
6regulation of B cell receptor signaling pathway (GO:0050855)4.76649408
7positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.37090511
8immunoglobulin mediated immune response (GO:0016064)4.12248343
9neutrophil activation involved in immune response (GO:0002283)4.11396098
10Arp2/3 complex-mediated actin nucleation (GO:0034314)4.08711217
11detection of other organism (GO:0098543)4.08220470
12detection of bacterium (GO:0016045)4.07488293
13regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.97546721
14T cell migration (GO:0072678)3.86371755
15leukocyte aggregation (GO:0070486)3.85881846
16negative regulation of T cell mediated immunity (GO:0002710)3.82957607
17cellular response to interleukin-15 (GO:0071350)3.79815520
18respiratory burst (GO:0045730)3.78818586
19positive regulation of B cell differentiation (GO:0045579)3.74957170
20regulation of B cell differentiation (GO:0045577)3.72369671
21regulation of T cell tolerance induction (GO:0002664)3.65616299
22negative T cell selection (GO:0043383)3.64930121
23negative thymic T cell selection (GO:0045060)3.62785938
24negative regulation of phagocytosis (GO:0050765)3.58077311
25B cell receptor signaling pathway (GO:0050853)3.57622436
26ribosomal small subunit assembly (GO:0000028)3.57265975
27* mast cell activation (GO:0045576)3.56585484
28modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.53382598
29positive regulation by organism of defense response of other organism involved in symbiotic interact3.53382598
30modulation by symbiont of host immune response (GO:0052553)3.53382598
31positive regulation by symbiont of host defense response (GO:0052509)3.53382598
32modulation by symbiont of host defense response (GO:0052031)3.53382598
33modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.53382598
34cellular response to interferon-beta (GO:0035458)3.52856928
35regulation of interleukin-2 biosynthetic process (GO:0045076)3.52327848
36cellular response to zinc ion (GO:0071294)3.52149552
37positive regulation of humoral immune response (GO:0002922)3.50971350
38negative regulation of lymphocyte mediated immunity (GO:0002707)3.49063725
39regulation of gamma-delta T cell differentiation (GO:0045586)3.44316012
40interferon-gamma production (GO:0032609)3.42913854
41tolerance induction (GO:0002507)3.41960786
42positive thymic T cell selection (GO:0045059)3.40617375
43regulation of interferon-beta biosynthetic process (GO:0045357)3.40586358
44detection of external biotic stimulus (GO:0098581)3.37683550
45B cell mediated immunity (GO:0019724)3.37201895
46regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.35926251
47negative regulation of cell killing (GO:0031342)3.35907497
48negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.35907497
49positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.34875063
50regulation of tolerance induction (GO:0002643)3.32817331
51myeloid dendritic cell activation (GO:0001773)3.30952121
52CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)3.30355347
53cellular response to exogenous dsRNA (GO:0071360)3.30354048
54T cell costimulation (GO:0031295)3.28954646
55regulation of gamma-delta T cell activation (GO:0046643)3.28792737
56regulation of dendritic cell antigen processing and presentation (GO:0002604)3.28346596
57defense response to protozoan (GO:0042832)3.26947100
58type I interferon signaling pathway (GO:0060337)3.26669014
59cellular response to type I interferon (GO:0071357)3.26669014
60response to type I interferon (GO:0034340)3.24742251
61lymphocyte costimulation (GO:0031294)3.24663731
62myeloid cell activation involved in immune response (GO:0002275)3.24049862
63positive regulation of interferon-alpha production (GO:0032727)3.19260989
64regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.19079546
65regulation of natural killer cell mediated immunity (GO:0002715)3.19079546
66interferon-gamma-mediated signaling pathway (GO:0060333)3.18472581
67regulation of regulatory T cell differentiation (GO:0045589)3.17658883
68negative regulation of leukocyte mediated immunity (GO:0002704)3.17238711
69positive regulation of antigen processing and presentation (GO:0002579)3.16907342
70cellular extravasation (GO:0045123)3.15905319
71cellular response to interferon-gamma (GO:0071346)3.15665590
72neutrophil activation (GO:0042119)3.13837911
73response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.12746833
74response to host immune response (GO:0052572)3.12746833
75response to protozoan (GO:0001562)3.11815796
76response to muramyl dipeptide (GO:0032495)3.11350229
77response to interferon-beta (GO:0035456)3.11184684
78regulation of T cell mediated cytotoxicity (GO:0001914)3.11000754
79antigen processing and presentation via MHC class Ib (GO:0002475)3.08662879
80actin nucleation (GO:0045010)3.08574033
81positive regulation of interleukin-2 production (GO:0032743)3.07192661
82regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.07065930
83regulation of interferon-alpha production (GO:0032647)3.04695039
84regulation of T cell receptor signaling pathway (GO:0050856)3.03936601
85mast cell activation involved in immune response (GO:0002279)3.03928000
86mast cell degranulation (GO:0043303)3.03928000
87detection of biotic stimulus (GO:0009595)3.02842628
88detection of molecule of bacterial origin (GO:0032490)3.02825978
89positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.01981040
90regulation of T-helper 1 cell differentiation (GO:0045625)2.99657730
91B cell homeostasis (GO:0001782)2.99573822
92response to peptidoglycan (GO:0032494)2.99268823
93T-helper 1 type immune response (GO:0042088)2.99265920
94sequestering of actin monomers (GO:0042989)2.98016612
95telomere maintenance via semi-conservative replication (GO:0032201)2.97207776
96germinal center formation (GO:0002467)2.96959476
97T cell receptor signaling pathway (GO:0050852)2.94274128
98lipopolysaccharide-mediated signaling pathway (GO:0031663)2.93341758
99granulocyte activation (GO:0036230)2.92614961
100microglial cell activation (GO:0001774)2.92537948
101cytidine catabolic process (GO:0006216)2.90807632
102macrophage activation involved in immune response (GO:0002281)2.89671581
103leukocyte degranulation (GO:0043299)2.87278538
104negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.86902293
105pinocytosis (GO:0006907)2.85237192
106regulation of alpha-beta T cell proliferation (GO:0046640)2.84242299
107thymic T cell selection (GO:0045061)2.82130358
108leukocyte cell-cell adhesion (GO:0007159)2.81581350
109DNA deamination (GO:0045006)2.80853766
110leukocyte mediated cytotoxicity (GO:0001909)2.78923115
111regulation of antigen processing and presentation (GO:0002577)2.78599514
112positive regulation of alpha-beta T cell proliferation (GO:0046641)2.77418151
113myeloid dendritic cell differentiation (GO:0043011)2.75375872
114telomere maintenance via recombination (GO:0000722)2.74642298
115natural killer cell activation (GO:0030101)2.74365279
116positive regulation of lamellipodium assembly (GO:0010592)2.72553405
117positive regulation of isotype switching (GO:0045830)2.72144820
118DNA strand elongation involved in DNA replication (GO:0006271)2.71923676
119positive T cell selection (GO:0043368)2.71151589
120regulation of interleukin-12 biosynthetic process (GO:0045075)2.70977387
121negative regulation of growth of symbiont in host (GO:0044130)2.67645860
122negative regulation of growth of symbiont involved in interaction with host (GO:0044146)2.67645860
123modulation of growth of symbiont involved in interaction with host (GO:0044144)2.67645860
124regulation of growth of symbiont in host (GO:0044126)2.67645860
125negative regulation of interleukin-12 production (GO:0032695)2.66417166
126T cell selection (GO:0045058)2.66194727
127response to interleukin-15 (GO:0070672)2.65633110
128NIK/NF-kappaB signaling (GO:0038061)2.62818854
129T cell homeostasis (GO:0043029)2.62692966
130positive regulation of macrophage differentiation (GO:0045651)2.62201698
131natural killer cell mediated immunity (GO:0002228)2.62167867
132natural killer cell mediated cytotoxicity (GO:0042267)2.62167867
133antigen receptor-mediated signaling pathway (GO:0050851)2.61930609
134production of molecular mediator involved in inflammatory response (GO:0002532)2.61611085
135positive regulation of mast cell activation (GO:0033005)2.60135826
136positive regulation of B cell mediated immunity (GO:0002714)2.60032415
137positive regulation of immunoglobulin mediated immune response (GO:0002891)2.60032415

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.96190699
2IRF8_22096565_ChIP-ChIP_GC-B_Human5.22108678
3IRF8_21731497_ChIP-ChIP_J774_Mouse4.52856965
4IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.04432560
5FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.83995567
6BP1_19119308_ChIP-ChIP_Hs578T_Human3.54065199
7MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.36092233
8STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.33735675
9SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.13049167
10IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.84568055
11STAT4_19710469_ChIP-ChIP_TH1__Mouse2.75223452
12SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.73316281
13* IRF8_27001747_Chip-Seq_BMDM_Mouse2.72499027
14MYB_21317192_ChIP-Seq_ERMYB_Mouse2.64483437
15* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.56987490
16ELF1_17652178_ChIP-ChIP_JURKAT_Human2.46331376
17STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.45075167
18SPI1_23547873_ChIP-Seq_NB4_Human2.43181301
19* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.41951481
20* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.40307658
21SCL_19346495_ChIP-Seq_HPC-7_Human2.37542320
22EGR1_19374776_ChIP-ChIP_THP-1_Human2.35281846
23* MYB_26560356_Chip-Seq_TH2_Human2.29940351
24* FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.28867702
25EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.26535577
26VDR_21846776_ChIP-Seq_THP-1_Human2.09473520
27E2F4_17652178_ChIP-ChIP_JURKAT_Human2.05358562
28MYC_22102868_ChIP-Seq_BL_Human2.04559068
29* MAF_26560356_Chip-Seq_TH1_Human1.98916922
30VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.98628338
31ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.97454358
32FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.94514866
33* MYB_26560356_Chip-Seq_TH1_Human1.93605503
34NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.90074189
35RUNX1_22412390_ChIP-Seq_EML_Mouse1.88189969
36* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.85358033
37* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.84799191
38RUNX_20019798_ChIP-Seq_JUKART_Human1.83472354
39VDR_24763502_ChIP-Seq_THP-1_Human1.80151266
40* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.77555925
41FOXM1_23109430_ChIP-Seq_U2OS_Human1.71384515
42MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.70105357
43HOXB4_20404135_ChIP-ChIP_EML_Mouse1.66262723
44UTX_26944678_Chip-Seq_JUKART_Human1.65463033
45SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.60844045
46GATA1_22025678_ChIP-Seq_K562_Human1.60745517
47VDR_24787735_ChIP-Seq_THP-1_Human1.60548809
48SMAD_19615063_ChIP-ChIP_OVARY_Human1.60522058
49ERG_20887958_ChIP-Seq_HPC-7_Mouse1.57638215
50GABP_17652178_ChIP-ChIP_JURKAT_Human1.57379967
51VDR_23849224_ChIP-Seq_CD4+_Human1.54128529
52* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.46144360
53NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.45600654
54NOTCH1_21737748_ChIP-Seq_TLL_Human1.44750190
55MYC_18555785_ChIP-Seq_MESCs_Mouse1.43806884
56* LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.42510969
57EST1_17652178_ChIP-ChIP_JURKAT_Human1.39051272
58FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.37486638
59KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.36604304
60FOXP3_21729870_ChIP-Seq_TREG_Human1.35320708
61* GATA2_22383799_ChIP-Seq_G1ME_Mouse1.35021168
62KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.34548151
63SPI1_23127762_ChIP-Seq_K562_Human1.34130317
64* PU_27001747_Chip-Seq_BMDM_Mouse1.33990214
65* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.33550069
66NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.32344285
67KDM2B_26808549_Chip-Seq_SUP-B15_Human1.29769332
68CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.29731064
69* GATA3_27048872_Chip-Seq_THYMUS_Human1.29426478
70E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.28774919
71CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.25898915
72GATA1_22383799_ChIP-Seq_G1ME_Mouse1.25726951
73* MAF_26560356_Chip-Seq_TH2_Human1.24658125
74* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.23138822
75CIITA_25753668_ChIP-Seq_RAJI_Human1.22032360
76KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.20692545
77FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.20674363
78CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.20616597
79JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.19768514
80KDM2B_26808549_Chip-Seq_DND41_Human1.19593876
81ELK1_19687146_ChIP-ChIP_HELA_Human1.16982334
82PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.16674764
83MYC_18358816_ChIP-ChIP_MESCs_Mouse1.15978198
84* GATA3_26560356_Chip-Seq_TH2_Human1.12311296
85E2F1_21310950_ChIP-Seq_MCF-7_Human1.10928204
86* GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.10470075
87Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.09933933
88TCF7_22412390_ChIP-Seq_EML_Mouse1.09030540
89CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.08944908
90RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.07967551
91CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.06092224
92PU.1_20513432_ChIP-Seq_Bcells_Mouse1.05536506
93* GATA1_19941827_ChIP-Seq_MEL_Mouse1.03641385
94VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.02535997
95PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.01097088
96NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.00712938
97PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.00282985
98ETS1_20019798_ChIP-Seq_JURKAT_Human0.97793472
99MYC_19030024_ChIP-ChIP_MESCs_Mouse0.96672642
100BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.96433046
101SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.94778758
102XRN2_22483619_ChIP-Seq_HELA_Human0.94408247
103SRF_21415370_ChIP-Seq_HL-1_Mouse0.92981126
104FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.92445205
105DCP1A_22483619_ChIP-Seq_HELA_Human0.91896994
106PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.91539155
107TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.91050375
108CREB1_15753290_ChIP-ChIP_HEK293T_Human0.89430591
109STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.89159326
110BCL6_27268052_Chip-Seq_Bcells_Human0.88841717
111HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.87714795
112MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.87156752
113GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86770012
114TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.86406343
115TFEB_21752829_ChIP-Seq_HELA_Human0.85645784
116MYC_19079543_ChIP-ChIP_MESCs_Mouse0.85492205
117FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84859198
118GATA1_19941826_ChIP-Seq_K562_Human0.84551473
119ELK3_25401928_ChIP-Seq_HUVEC_Human0.82572948
120SMRT_27268052_Chip-Seq_Bcells_Human0.77717386
121RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.75773788
122BCOR_27268052_Chip-Seq_Bcells_Human0.75638594
123KDM2B_26808549_Chip-Seq_JURKAT_Human0.75606505
124GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.75414743
125STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.74755628
126IKZF1_21737484_ChIP-ChIP_HCT116_Human0.74207369

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation5.01473785
2MP0005671_abnormal_response_to3.68338118
3MP0009785_altered_susceptibility_to3.36057672
4MP0000685_abnormal_immune_system3.19446740
5MP0005000_abnormal_immune_tolerance3.11229729
6MP0002148_abnormal_hypersensitivity_rea3.06149258
7MP0001800_abnormal_humoral_immune3.04615372
8MP0005025_abnormal_response_to3.01072831
9MP0003436_decreased_susceptibility_to3.01048323
10MP0005387_immune_system_phenotype2.95557574
11MP0001790_abnormal_immune_system2.95557574
12MP0003763_abnormal_thymus_physiology2.91933815
13MP0002419_abnormal_innate_immunity2.89260850
14MP0002452_abnormal_antigen_presenting2.87688146
15MP0002396_abnormal_hematopoietic_system2.84223180
16* MP0002420_abnormal_adaptive_immunity2.78014547
17MP0002723_abnormal_immune_serum2.77971182
18* MP0001819_abnormal_immune_cell2.76992924
19MP0003724_increased_susceptibility_to2.52118934
20MP0006082_CNS_inflammation2.46511971
21MP0002166_altered_tumor_susceptibility2.44845767
22* MP0002398_abnormal_bone_marrow2.44758246
23MP0005464_abnormal_platelet_physiology2.26980229
24* MP0000716_abnormal_immune_system2.26665851
25MP0002006_tumorigenesis2.26375313
26MP0002405_respiratory_system_inflammati2.18286169
27MP0003303_peritoneal_inflammation2.17154690
28MP0009333_abnormal_splenocyte_physiolog2.15602477
29MP0001853_heart_inflammation2.11759293
30MP0000689_abnormal_spleen_morphology2.04033846
31MP0002722_abnormal_immune_system1.96884972
32* MP0002429_abnormal_blood_cell1.91917446
33MP0010155_abnormal_intestine_physiology1.86219857
34MP0001845_abnormal_inflammatory_respons1.84342278
35MP0000858_altered_metastatic_potential1.80889250
36MP0005058_abnormal_lysosome_morphology1.71318650
37MP0008057_abnormal_DNA_replication1.65346144
38MP0001545_abnormal_hematopoietic_system1.63339435
39MP0005397_hematopoietic_system_phenotyp1.63339435
40MP0000703_abnormal_thymus_morphology1.57969134
41MP0001873_stomach_inflammation1.55733878
42MP0004808_abnormal_hematopoietic_stem1.52586742
43MP0004947_skin_inflammation1.51084729
44MP0008469_abnormal_protein_level1.50151703
45MP0000465_gastrointestinal_hemorrhage1.50045850
46MP0003866_abnormal_defecation1.49078666
47MP0005174_abnormal_tail_pigmentation1.47380984
48MP0000490_abnormal_crypts_of1.46429307
49MP0003172_abnormal_lysosome_physiology1.44191636
50MP0003448_altered_tumor_morphology1.42752852
51MP0001533_abnormal_skeleton_physiology1.41845354
52MP0003693_abnormal_embryo_hatching1.39581559
53MP0002138_abnormal_hepatobiliary_system1.39455737
54MP0010094_abnormal_chromosome_stability1.38989519
55MP0005451_abnormal_body_composition1.31296084
56MP0004510_myositis1.26599481
57MP0005075_abnormal_melanosome_morpholog1.23769685
58MP0002019_abnormal_tumor_incidence1.18543694
59MP0005310_abnormal_salivary_gland1.18332456
60MP0003300_gastrointestinal_ulcer1.17515817
61MP0008007_abnormal_cellular_replicative1.14613557
62MP0003077_abnormal_cell_cycle1.13836758
63MP0009764_decreased_sensitivity_to1.13630603
64MP0002933_joint_inflammation1.09444543
65MP0008260_abnormal_autophagy1.04803823
66MP0000343_altered_response_to1.03252408
67MP0003191_abnormal_cellular_cholesterol1.03031340
68MP0000015_abnormal_ear_pigmentation0.95640608
69MP0003111_abnormal_nucleus_morphology0.94547811
70MP0002998_abnormal_bone_remodeling0.90840121
71MP0008058_abnormal_DNA_repair0.90700551
72MP0003806_abnormal_nucleotide_metabolis0.89838873
73MP0010307_abnormal_tumor_latency0.89691228
74MP0009763_increased_sensitivity_to0.89434865
75MP0003183_abnormal_peptide_metabolism0.85564346
76MP0003045_fibrosis0.85396864
77MP0009278_abnormal_bone_marrow0.84023968
78MP0002277_abnormal_respiratory_mucosa0.83923992
79MP0006054_spinal_hemorrhage0.83610309
80MP0002095_abnormal_skin_pigmentation0.82769810
81MP0004957_abnormal_blastocyst_morpholog0.81694188
82MP0008004_abnormal_stomach_pH0.80636439
83MP0002132_abnormal_respiratory_system0.80163110
84MP0003075_altered_response_to0.79467090
85MP0004883_abnormal_blood_vessel0.77264707
86MP0005166_decreased_susceptibility_to0.76193718
87MP0003186_abnormal_redox_activity0.73880057
88MP0001348_abnormal_lacrimal_gland0.73285587
89MP0001851_eye_inflammation0.69089981
90MP0000371_diluted_coat_color0.68991981
91MP0000313_abnormal_cell_death0.68294218
92MP0009840_abnormal_foam_cell0.65233586
93MP0003690_abnormal_glial_cell0.64741997
94MP0003091_abnormal_cell_migration0.64151146
95MP0002693_abnormal_pancreas_physiology0.63856318
96MP0002254_reproductive_system_inflammat0.63565923
97MP0002009_preneoplasia0.63063782
98MP0008873_increased_physiological_sensi0.62928821
99MP0003656_abnormal_erythrocyte_physiolo0.60528199
100MP0000249_abnormal_blood_vessel0.59748066
101MP0001663_abnormal_digestive_system0.59664308
102MP0002139_abnormal_hepatobiliary_system0.58956553
103MP0003795_abnormal_bone_structure0.55935808
104MP0008874_decreased_physiological_sensi0.55268803
105MP0004782_abnormal_surfactant_physiolog0.54845156
106MP0010352_gastrointestinal_tract_polyps0.54224217
107MP0005164_abnormal_response_to0.53123618
108MP0002136_abnormal_kidney_physiology0.52592415
109MP0005390_skeleton_phenotype0.52299162
110MP0003828_pulmonary_edema0.52208408
111MP0000609_abnormal_liver_physiology0.50260729
112MP0000569_abnormal_digit_pigmentation0.50001088
113MP0002163_abnormal_gland_morphology0.47831225
114MP0002332_abnormal_exercise_endurance0.47704575
115MP0005584_abnormal_enzyme/coenzyme_acti0.46510896
116MP0001986_abnormal_taste_sensitivity0.44888168
117MP0003221_abnormal_cardiomyocyte_apopto0.44243496
118MP0003453_abnormal_keratinocyte_physiol0.44171220
119MP0000598_abnormal_liver_morphology0.42664254
120MP0000604_amyloidosis0.42455728
121MP0009765_abnormal_xenobiotic_induced0.42421098
122MP0004381_abnormal_hair_follicle0.41395178

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)5.92859057
2Elevated erythrocyte sedimentation rate (HP:0003565)5.67408551
3Recurrent bacterial skin infections (HP:0005406)5.16606788
4Myositis (HP:0100614)4.81671353
5Eczematoid dermatitis (HP:0000976)4.66855935
6Recurrent viral infections (HP:0004429)4.27310679
7Chronic otitis media (HP:0000389)4.26944267
8Recurrent fungal infections (HP:0002841)3.95269160
9IgM deficiency (HP:0002850)3.90642485
10Mediastinal lymphadenopathy (HP:0100721)3.72388217
11Thrombocytosis (HP:0001894)3.71906002
12Recurrent bronchitis (HP:0002837)3.68542415
13Recurrent skin infections (HP:0001581)3.64839790
14Meningitis (HP:0001287)3.62726013
15Abnormality of T cell number (HP:0011839)3.59756441
16T lymphocytopenia (HP:0005403)3.59150554
17Chronic obstructive pulmonary disease (HP:0006510)3.56351197
18Obstructive lung disease (HP:0006536)3.56351197
19Recurrent gram-negative bacterial infections (HP:0005420)3.52766077
20Abnormality of T cells (HP:0002843)3.50997168
21Panhypogammaglobulinemia (HP:0003139)3.50680809
22Orchitis (HP:0100796)3.41912009
23Retrobulbar optic neuritis (HP:0100654)3.40712149
24Optic neuritis (HP:0100653)3.40712149
25Recurrent cutaneous fungal infections (HP:0011370)3.37347531
26Chronic mucocutaneous candidiasis (HP:0002728)3.37347531
27Abnormal delayed hypersensitivity skin test (HP:0002963)3.29654975
28Petechiae (HP:0000967)3.29638572
29Abnormality of macrophages (HP:0004311)3.29148545
30Abnormality of T cell physiology (HP:0011840)3.27285035
31Vasculitis (HP:0002633)3.24068989
32Vacuolated lymphocytes (HP:0001922)3.19360749
33Urticaria (HP:0001025)3.11878561
34Agammaglobulinemia (HP:0004432)3.10756650
35Stomatitis (HP:0010280)3.09988560
36Nasal polyposis (HP:0100582)3.07419413
37IgG deficiency (HP:0004315)3.06510336
38Autoimmune thrombocytopenia (HP:0001973)3.04024176
39Increased IgE level (HP:0003212)2.92299701
40Cellulitis (HP:0100658)2.88559779
41Abnormality of the prostate (HP:0008775)2.87627795
42Lymphopenia (HP:0001888)2.86083105
43Pustule (HP:0200039)2.82852374
44Abnormality of cells of the lymphoid lineage (HP:0012140)2.82841965
45Encephalitis (HP:0002383)2.82693398
46Increased IgM level (HP:0003496)2.76413529
47Leukocytosis (HP:0001974)2.75176222
48Gingivitis (HP:0000230)2.70580573
49Pulmonary infiltrates (HP:0002113)2.69834214
50Inflammation of the large intestine (HP:0002037)2.68560930
51Hypergammaglobulinemia (HP:0010702)2.67505302
52Eosinophilia (HP:0001880)2.65054721
53Gangrene (HP:0100758)2.64881633
54Increased neuronal autofluorescent lipopigment (HP:0002074)2.64565892
55Basal ganglia calcification (HP:0002135)2.64442745
56Gastrointestinal inflammation (HP:0004386)2.63293497
57Abnormality of the nasal mucosa (HP:0000433)2.62190863
58Periodontitis (HP:0000704)2.61531457
59Combined immunodeficiency (HP:0005387)2.61054800
60Colitis (HP:0002583)2.58207083
61Keratoconjunctivitis sicca (HP:0001097)2.57651170
62Severe combined immunodeficiency (HP:0004430)2.57416444
63Restrictive lung disease (HP:0002091)2.55756974
64Increased cerebral lipofuscin (HP:0011813)2.53899365
65Pulmonary embolism (HP:0002204)2.51555100
66Hemoptysis (HP:0002105)2.50315016
67Granulocytopenia (HP:0001913)2.48929191
68Aplastic anemia (HP:0001915)2.48905465
69Verrucae (HP:0200043)2.44823184
70Papilloma (HP:0012740)2.44823184
71Hypoplasia of the thymus (HP:0000778)2.44152117
72Thyroiditis (HP:0100646)2.43811094
73Abnormal number of erythroid precursors (HP:0012131)2.43325189
74Lymphoma (HP:0002665)2.42620475
75B lymphocytopenia (HP:0010976)2.41546423
76Abnormality of B cell number (HP:0010975)2.41546423
77Interstitial pulmonary disease (HP:0006530)2.40225714
78Emphysema (HP:0002097)2.39605801
79Anorexia (HP:0002039)2.39386459
80Abnormality of eosinophils (HP:0001879)2.39169968
81Recurrent sinusitis (HP:0011108)2.37427230
82Joint swelling (HP:0001386)2.35347751
83Recurrent pneumonia (HP:0006532)2.33876749
84Abnormality of cells of the erythroid lineage (HP:0012130)2.32975139
85Epistaxis (HP:0000421)2.32651939
86Keratoconjunctivitis (HP:0001096)2.32320568
87Sepsis (HP:0100806)2.31970980
88Agnosia (HP:0010524)2.29806690
89Abnormality of liposaccharide metabolism (HP:0010968)2.29014496
90Gastrointestinal infarctions (HP:0005244)2.28900811
91Prolonged bleeding time (HP:0003010)2.26838932
92Recurrent lower respiratory tract infections (HP:0002783)2.24383629
93Arterial thrombosis (HP:0004420)2.24354929
94IgA deficiency (HP:0002720)2.23118905
95Skin rash (HP:0000988)2.19272859
96Arthralgia (HP:0002829)2.19179513
97Spontaneous hematomas (HP:0007420)2.18351302
98Systemic lupus erythematosus (HP:0002725)2.17689362
99Polyneuropathy (HP:0001271)2.17343974
100Gastrointestinal stroma tumor (HP:0100723)2.17118112
101Acute hepatic failure (HP:0006554)2.15990253
102Reticulocytopenia (HP:0001896)2.15059513
103Glomerulopathy (HP:0100820)2.13758539
104Chronic diarrhea (HP:0002028)2.12965284
105Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.12486227
106Abnormality of the pleura (HP:0002103)2.12470621
107Chest pain (HP:0100749)2.11322457
108Chronic sinusitis (HP:0011109)2.11148951
109Amaurosis fugax (HP:0100576)2.10527451
110Autoimmune hemolytic anemia (HP:0001890)2.09891007
111Osteomyelitis (HP:0002754)2.09756652
112Dysostosis multiplex (HP:0000943)2.05393921
113Reduced antithrombin III activity (HP:0001976)2.04996660
114Bronchitis (HP:0012387)2.03685166
115Gingival bleeding (HP:0000225)2.03622247
116Skin ulcer (HP:0200042)2.03078856
117Hypochromic anemia (HP:0001931)2.01965986
118Viral hepatitis (HP:0006562)2.00406771
119Papilledema (HP:0001085)1.99559316
120Abnormality of glycosphingolipid metabolism (HP:0004343)1.97780690
121Abnormality of glycolipid metabolism (HP:0010969)1.97780690
122Premature loss of primary teeth (HP:0006323)1.96264043

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K14.57671428
2TXK3.46484684
3PRPF4B3.06510386
4BLK3.03483800
5IRAK42.92692182
6KIT2.86659244
7TYK22.82240682
8MAP3K142.77029875
9JAK32.56469253
10TBK12.39300153
11TEC2.35391890
12BTK2.27899264
13ZAP702.25172366
14IKBKE2.12912299
15RIPK42.01093412
16NME21.94984706
17ITK1.94420322
18SYK1.92039359
19PIM21.91439176
20CSF1R1.84026890
21BMPR21.80972826
22STK101.78075824
23TAOK31.76212790
24CLK11.65006607
25IKBKB1.64084274
26IRAK31.63907638
27JAK11.57154101
28FGR1.51282825
29CSK1.49808377
30LCK1.45912310
31EIF2AK11.43909614
32LYN1.41901736
33MAP3K121.37285917
34FLT31.28450628
35TESK21.24456741
36PIM11.24360788
37FES1.23960684
38EIF2AK31.23887145
39ACVR1B1.23791990
40HCK1.21579153
41STK161.21113043
42GRK61.12686696
43TAOK21.11747167
44LRRK21.09675035
45SIK21.06157470
46SCYL21.04892333
47MST41.04053572
48ERN11.03067623
49CDC71.02544743
50NEK91.00608909
51KDR1.00345217
52RPS6KA40.98354261
53TGFBR20.91985106
54SMG10.91665175
55VRK10.90007325
56MAP2K30.88509603
57STK40.87416800
58MAP3K30.87041163
59TAOK10.84917905
60CDK190.83541293
61MAP3K130.82358750
62MAP3K10.80898380
63PDK10.80382290
64FGFR40.79021715
65BUB10.78542238
66WEE10.76513165
67MATK0.76385790
68NLK0.75088727
69ATR0.74624454
70IRAK10.72828284
71TLK10.72824153
72JAK20.72498189
73CHUK0.70079457
74EIF2AK20.66816072
75CDC42BPA0.66432793
76EPHB10.66205428
77CAMKK20.66118901
78FGFR30.60866385
79PRKCQ0.59949491
80NEK20.58919487
81CDK40.58313194
82MAPK70.57741423
83SIK30.57111373
84EEF2K0.56574403
85MAPK120.55832225
86HIPK20.55561313
87PRKCD0.53518463
88CAMKK10.52269579
89FYN0.51790077
90IRAK20.50875255
91RPS6KA60.47304964
92MELK0.46304380
93MARK30.45661780
94TRPM70.44648014
95MAPK110.43866359
96BRSK20.43395411
97MAP3K80.42807901
98TGFBR10.42247945
99GRK70.40574030
100STK240.40300198
101PDPK10.40098663
102PIK3CG0.39812716
103KSR20.39254919
104MAP3K100.38993022
105ABL10.38981263
106DAPK10.38749462
107ADRBK20.37860384
108MAPK40.37778283
109PRKCH0.37684235
110CDK70.37050666
111CCNB10.36858906
112RPS6KL10.35899204
113RPS6KC10.35899204
114RAF10.35736968
115MOS0.35539449
116TNK20.35401595
117PASK0.35392167
118MAPKAPK20.34885361
119YES10.34743852
120ABL20.32985849
121AURKB0.32309687
122MAP3K110.32136920
123MAP3K50.31827909
124ILK0.31434903
125RPS6KB20.29693172
126CDK80.28482266
127CDK60.27874344
128MAP2K60.27853789
129INSR0.24474363
130CDK120.23404481
131MARK20.23393170
132EGFR0.23052560

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.52959641
2DNA replication_Homo sapiens_hsa030303.08061599
3Graft-versus-host disease_Homo sapiens_hsa053322.90802849
4Antigen processing and presentation_Homo sapiens_hsa046122.66217901
5Leishmaniasis_Homo sapiens_hsa051402.59298040
6Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.48816741
7Allograft rejection_Homo sapiens_hsa053302.37217957
8NF-kappa B signaling pathway_Homo sapiens_hsa040642.31544084
9* Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.29382808
10Measles_Homo sapiens_hsa051622.28275677
11Intestinal immune network for IgA production_Homo sapiens_hsa046722.27101048
12Mismatch repair_Homo sapiens_hsa034302.13295970
13Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.11104274
14Ribosome_Homo sapiens_hsa030101.99773136
15B cell receptor signaling pathway_Homo sapiens_hsa046621.87847298
16RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.84931554
17Hematopoietic cell lineage_Homo sapiens_hsa046401.84539880
18Toll-like receptor signaling pathway_Homo sapiens_hsa046201.83575244
19Base excision repair_Homo sapiens_hsa034101.81548555
20Osteoclast differentiation_Homo sapiens_hsa043801.80685541
21Herpes simplex infection_Homo sapiens_hsa051681.79225745
22Staphylococcus aureus infection_Homo sapiens_hsa051501.77696385
23Legionellosis_Homo sapiens_hsa051341.74861198
24Homologous recombination_Homo sapiens_hsa034401.64313285
25Pertussis_Homo sapiens_hsa051331.62751718
26Proteasome_Homo sapiens_hsa030501.59112658
27NOD-like receptor signaling pathway_Homo sapiens_hsa046211.54897359
28Other glycan degradation_Homo sapiens_hsa005111.52095554
29Tuberculosis_Homo sapiens_hsa051521.48815256
30T cell receptor signaling pathway_Homo sapiens_hsa046601.48726992
31Viral myocarditis_Homo sapiens_hsa054161.42579873
32Influenza A_Homo sapiens_hsa051641.41769851
33Malaria_Homo sapiens_hsa051441.38504666
34Asthma_Homo sapiens_hsa053101.37691905
35Non-homologous end-joining_Homo sapiens_hsa034501.36083324
36Shigellosis_Homo sapiens_hsa051311.29705335
37Autoimmune thyroid disease_Homo sapiens_hsa053201.26949216
38Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.24182337
39Apoptosis_Homo sapiens_hsa042101.23664997
40Nucleotide excision repair_Homo sapiens_hsa034201.23582809
41Toxoplasmosis_Homo sapiens_hsa051451.23356969
42Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.22201832
43Jak-STAT signaling pathway_Homo sapiens_hsa046301.19389537
44Type I diabetes mellitus_Homo sapiens_hsa049401.17992056
45Lysosome_Homo sapiens_hsa041421.15712884
46Hepatitis B_Homo sapiens_hsa051611.13343870
47Salmonella infection_Homo sapiens_hsa051321.11078399
48Glycosaminoglycan degradation_Homo sapiens_hsa005311.10311662
49Spliceosome_Homo sapiens_hsa030401.09684212
50Chemokine signaling pathway_Homo sapiens_hsa040621.06039314
51Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.03597070
52Pyrimidine metabolism_Homo sapiens_hsa002401.01720439
53Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.00918379
54Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.00360259
55Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.99389454
56TNF signaling pathway_Homo sapiens_hsa046680.93141687
57Epstein-Barr virus infection_Homo sapiens_hsa051690.90694055
58Leukocyte transendothelial migration_Homo sapiens_hsa046700.89679509
59p53 signaling pathway_Homo sapiens_hsa041150.87536280
60Protein export_Homo sapiens_hsa030600.81518222
61Fanconi anemia pathway_Homo sapiens_hsa034600.81420189
62Rheumatoid arthritis_Homo sapiens_hsa053230.80660813
63Phagosome_Homo sapiens_hsa041450.79656521
64Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.78809280
65Acute myeloid leukemia_Homo sapiens_hsa052210.73697259
66Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.73532066
67RNA polymerase_Homo sapiens_hsa030200.71905472
68Platelet activation_Homo sapiens_hsa046110.71857089
69Cell cycle_Homo sapiens_hsa041100.71817219
70Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.70982982
71African trypanosomiasis_Homo sapiens_hsa051430.68292783
72One carbon pool by folate_Homo sapiens_hsa006700.67999001
73Pentose phosphate pathway_Homo sapiens_hsa000300.67291008
74Systemic lupus erythematosus_Homo sapiens_hsa053220.66700382
75Viral carcinogenesis_Homo sapiens_hsa052030.66321739
76RNA degradation_Homo sapiens_hsa030180.64234504
77Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.64182215
78Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.63463161
79Transcriptional misregulation in cancer_Homo sapiens_hsa052020.61648177
80HTLV-I infection_Homo sapiens_hsa051660.59404746
81Prolactin signaling pathway_Homo sapiens_hsa049170.58564977
82Hepatitis C_Homo sapiens_hsa051600.58343528
83Pancreatic cancer_Homo sapiens_hsa052120.53677560
84VEGF signaling pathway_Homo sapiens_hsa043700.53119110
85N-Glycan biosynthesis_Homo sapiens_hsa005100.52128726
86Renin-angiotensin system_Homo sapiens_hsa046140.51562624
87Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.46450882
88Chronic myeloid leukemia_Homo sapiens_hsa052200.45651006
89Sphingolipid signaling pathway_Homo sapiens_hsa040710.44092662
90Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.43555152
91Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.40490275
92Small cell lung cancer_Homo sapiens_hsa052220.40459092
93AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.38809800
94RNA transport_Homo sapiens_hsa030130.37089774
95SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33644538
96Renal cell carcinoma_Homo sapiens_hsa052110.32174632
97Adipocytokine signaling pathway_Homo sapiens_hsa049200.31314379
98Neurotrophin signaling pathway_Homo sapiens_hsa047220.31015651
99HIF-1 signaling pathway_Homo sapiens_hsa040660.30246730
100Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.30000050
101Endocytosis_Homo sapiens_hsa041440.29819423
102FoxO signaling pathway_Homo sapiens_hsa040680.27650702
103Purine metabolism_Homo sapiens_hsa002300.26605716
104MAPK signaling pathway_Homo sapiens_hsa040100.26260637
105Basal transcription factors_Homo sapiens_hsa030220.26061878
106Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.24420537
107Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.23742851
108Carbohydrate digestion and absorption_Homo sapiens_hsa049730.23648459
109Non-small cell lung cancer_Homo sapiens_hsa052230.22165722
110Phosphatidylinositol signaling system_Homo sapiens_hsa040700.22156659
111Colorectal cancer_Homo sapiens_hsa052100.20735501
112Type II diabetes mellitus_Homo sapiens_hsa049300.20323397
113Caffeine metabolism_Homo sapiens_hsa002320.19721323
114Drug metabolism - other enzymes_Homo sapiens_hsa009830.17610116
115Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.17163756
116Phospholipase D signaling pathway_Homo sapiens_hsa040720.15977068
117Insulin resistance_Homo sapiens_hsa049310.14846396
118GnRH signaling pathway_Homo sapiens_hsa049120.14694687
119Amoebiasis_Homo sapiens_hsa051460.13704948
120Dorso-ventral axis formation_Homo sapiens_hsa043200.13618973
121mTOR signaling pathway_Homo sapiens_hsa041500.12924060
122Prostate cancer_Homo sapiens_hsa052150.11948233
123Endometrial cancer_Homo sapiens_hsa052130.10616974
124Choline metabolism in cancer_Homo sapiens_hsa052310.09375924
125Inositol phosphate metabolism_Homo sapiens_hsa005620.09127819
126Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.05736842
127Alcoholism_Homo sapiens_hsa050340.05015967
128Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.04711716
129Bladder cancer_Homo sapiens_hsa052190.03863353
130Notch signaling pathway_Homo sapiens_hsa043300.02235252
131Collecting duct acid secretion_Homo sapiens_hsa049660.02138670

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