PTPRE

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 protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Several alternatively spliced transcript variants of this gene have been reported, at least two of which encode a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokine-induced SATA signaling, as well as the activation of voltage-gated K+ channels. 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 (G6.94627026
2neutrophil activation involved in immune response (GO:0002283)5.80888499
3response to peptidoglycan (GO:0032494)4.64108401
4respiratory burst (GO:0045730)4.60343760
5mast cell activation (GO:0045576)4.51262590
6detection of molecule of bacterial origin (GO:0032490)4.36581219
7modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.24802614
8positive regulation by organism of defense response of other organism involved in symbiotic interact4.24802614
9modulation by symbiont of host immune response (GO:0052553)4.24802614
10positive regulation by symbiont of host defense response (GO:0052509)4.24802614
11modulation by symbiont of host defense response (GO:0052031)4.24802614
12modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.24802614
13myeloid cell activation involved in immune response (GO:0002275)4.23448289
14neutrophil activation (GO:0042119)4.21929898
15immunoglobulin mediated immune response (GO:0016064)4.17214823
16regulation of B cell receptor signaling pathway (GO:0050855)4.14927077
17detection of bacterium (GO:0016045)4.12161242
18granulocyte activation (GO:0036230)4.11823316
19positive regulation of B cell differentiation (GO:0045579)4.08531703
20detection of external biotic stimulus (GO:0098581)4.03686115
21leukocyte aggregation (GO:0070486)4.03181801
22positive regulation of gamma-delta T cell activation (GO:0046645)4.02461725
23regulation of gamma-delta T cell activation (GO:0046643)4.01809631
24production of molecular mediator involved in inflammatory response (GO:0002532)3.89359353
25macrophage activation involved in immune response (GO:0002281)3.88467280
26regulation of interferon-beta biosynthetic process (GO:0045357)3.79504688
27defense response to protozoan (GO:0042832)3.76729899
28detection of biotic stimulus (GO:0009595)3.74065789
29mast cell activation involved in immune response (GO:0002279)3.73538587
30mast cell degranulation (GO:0043303)3.73538587
31leukocyte degranulation (GO:0043299)3.72787953
32superoxide anion generation (GO:0042554)3.68175168
33regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.65395053
34response to protozoan (GO:0001562)3.61109448
35neutrophil mediated immunity (GO:0002446)3.57939931
36regulation of B cell differentiation (GO:0045577)3.56677268
37myeloid dendritic cell activation (GO:0001773)3.51618006
38positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.49754564
39regulation of mast cell degranulation (GO:0043304)3.48347121
40negative regulation of interleukin-17 production (GO:0032700)3.45104012
41regulation of gamma-delta T cell differentiation (GO:0045586)3.42152752
42megakaryocyte development (GO:0035855)3.34626354
43response to muramyl dipeptide (GO:0032495)3.33521715
44myeloid leukocyte activation (GO:0002274)3.32749078
45negative regulation of lymphocyte mediated immunity (GO:0002707)3.32736715
46regulation of mast cell activation involved in immune response (GO:0033006)3.31683543
47regulation of leukocyte degranulation (GO:0043300)3.31359690
48lipopolysaccharide-mediated signaling pathway (GO:0031663)3.29515148
49definitive hemopoiesis (GO:0060216)3.27851923
50positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.27349601
51negative regulation of T cell mediated immunity (GO:0002710)3.25047690
52mature B cell differentiation (GO:0002335)3.21702445
53positive regulation of mast cell activation involved in immune response (GO:0033008)3.20397545
54positive regulation of mast cell degranulation (GO:0043306)3.20397545
55* regulation of mast cell activation (GO:0033003)3.19720227
56reactive oxygen species biosynthetic process (GO:1903409)3.18221290
57regulation of dendritic cell antigen processing and presentation (GO:0002604)3.17753486
58regulation of tolerance induction (GO:0002643)3.17032589
59B cell receptor signaling pathway (GO:0050853)3.16857440
60myeloid dendritic cell differentiation (GO:0043011)3.16000611
61negative regulation of cell killing (GO:0031342)3.13819837
62negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.13819837
63positive regulation of mast cell activation (GO:0033005)3.13656653
64cellular extravasation (GO:0045123)3.11578076
65regulation of T cell tolerance induction (GO:0002664)3.10653491
66microglial cell activation (GO:0001774)3.10238612
67regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.10168338
68lymphoid progenitor cell differentiation (GO:0002320)3.09009613
69positive regulation of interferon-alpha production (GO:0032727)3.07866798
70positive regulation of myeloid leukocyte mediated immunity (GO:0002888)3.07089859
71antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.06787067
72antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.06787067
73positive thymic T cell selection (GO:0045059)3.05372100
74negative regulation of leukocyte mediated immunity (GO:0002704)3.05070909
75response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.03498431
76response to host immune response (GO:0052572)3.03498431
77activated T cell proliferation (GO:0050798)3.03337630
78regulation of T-helper 2 cell differentiation (GO:0045628)3.02350113
79regulation of syncytium formation by plasma membrane fusion (GO:0060142)3.02339465
80cellular response to thyroid hormone stimulus (GO:0097067)3.01678826
81negative regulation of interleukin-12 production (GO:0032695)3.01048068
82positive regulation of leukocyte degranulation (GO:0043302)3.00822654
83macrophage activation (GO:0042116)2.99911370
84hydrogen peroxide biosynthetic process (GO:0050665)2.99509894
85Arp2/3 complex-mediated actin nucleation (GO:0034314)2.98326058
86mature B cell differentiation involved in immune response (GO:0002313)2.97609693
87response to interferon-beta (GO:0035456)2.96012969
88neutrophil chemotaxis (GO:0030593)2.94530021
89positive regulation of cellular amide metabolic process (GO:0034250)2.94086454
90leukocyte migration involved in inflammatory response (GO:0002523)2.92948308
91regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.92916624
92detection of other organism (GO:0098543)2.92674517
93B cell mediated immunity (GO:0019724)2.92649371
94T-helper 1 type immune response (GO:0042088)2.92064766
95regulation of interferon-alpha production (GO:0032647)2.91092482
96negative regulation of erythrocyte differentiation (GO:0045647)2.90788180
97regulation of interleukin-12 biosynthetic process (GO:0045075)2.89508144
98negative thymic T cell selection (GO:0045060)2.89203142
99interferon-gamma-mediated signaling pathway (GO:0060333)2.87342653
100positive regulation of type 2 immune response (GO:0002830)2.87000258
101antigen processing and presentation of endogenous antigen (GO:0019883)2.86295906
102neutrophil migration (GO:1990266)2.85160468
103positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.83853559
104T cell migration (GO:0072678)2.83397185
105myeloid leukocyte mediated immunity (GO:0002444)2.82637331
106positive regulation of antigen processing and presentation (GO:0002579)2.81877457
107regulation of antigen processing and presentation (GO:0002577)2.80402038
108negative T cell selection (GO:0043383)2.80332366
109leukocyte mediated cytotoxicity (GO:0001909)2.78765277
110positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.78708540
111regulation of interleukin-17 production (GO:0032660)2.78570414
112antigen processing and presentation via MHC class Ib (GO:0002475)2.78535927
113regulation of regulated secretory pathway (GO:1903305)2.78306711
114granulocyte chemotaxis (GO:0071621)2.78045603
115phagocytosis, engulfment (GO:0006911)2.77369554
116positive regulation of toll-like receptor signaling pathway (GO:0034123)2.76605363
117response to host (GO:0075136)2.76147590
118response to host defenses (GO:0052200)2.76147590
119response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.76147590
120regulation of myeloid leukocyte mediated immunity (GO:0002886)2.75983039
121regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.75974476
122negative regulation of interleukin-6 production (GO:0032715)2.75872319
123positive regulation of macrophage differentiation (GO:0045651)2.74996379
124interferon-gamma production (GO:0032609)2.74948564
125germinal center formation (GO:0002467)2.74588600
126negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.74105847
127response to fungus (GO:0009620)2.72848318
128positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.72734838
129negative regulation of myeloid cell apoptotic process (GO:0033033)2.72500349
130response to interleukin-15 (GO:0070672)2.72332487
131regulation of macrophage cytokine production (GO:0010935)2.71783969
132cellular response to interferon-beta (GO:0035458)2.70782742
133B cell homeostasis (GO:0001782)2.70238231
134leukocyte cell-cell adhesion (GO:0007159)2.69792960
135cellular response to zinc ion (GO:0071294)2.69235407

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_21731497_ChIP-ChIP_J774_Mouse5.53221673
2IRF8_22096565_ChIP-ChIP_GC-B_Human5.37012245
3MECOM_23826213_ChIP-Seq_KASUMI_Mouse4.55433093
4SCL_19346495_ChIP-Seq_HPC-7_Human4.52280217
5* BP1_19119308_ChIP-ChIP_Hs578T_Human4.15253116
6IRF8_27001747_Chip-Seq_BMDM_Mouse3.97330403
7SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.95196605
8MYB_21317192_ChIP-Seq_ERMYB_Mouse3.90505177
9IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.79907485
10FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.76997469
11* STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.63095589
12NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.41092861
13SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.08514921
14RUNX1_20887958_ChIP-Seq_HPC-7_Mouse3.00200953
15Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.95869440
16SPI1_23547873_ChIP-Seq_NB4_Human2.86754022
17STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.77036505
18IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.57124244
19RUNX_20019798_ChIP-Seq_JUKART_Human2.53711610
20* STAT4_19710469_ChIP-ChIP_TH1__Mouse2.49445896
21SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.45292383
22LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.44326830
23* VDR_24763502_ChIP-Seq_THP-1_Human2.42731326
24SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.26659691
25MEIS1_20887958_ChIP-Seq_HPC-7_Mouse2.25574048
26RUNX1_22412390_ChIP-Seq_EML_Mouse2.24992069
27BRD4_27068464_Chip-Seq_AML-cells_Mouse2.17117696
28FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.15847864
29SPI1_23127762_ChIP-Seq_K562_Human2.15490783
30LMO2_20887958_ChIP-Seq_HPC-7_Mouse2.14230625
31MYB_26560356_Chip-Seq_TH2_Human2.12694144
32VDR_21846776_ChIP-Seq_THP-1_Human2.07357826
33NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.04833081
34FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.04532580
35EGR1_19374776_ChIP-ChIP_THP-1_Human2.04438667
36NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.85822546
37GATA1_22025678_ChIP-Seq_K562_Human1.79956337
38PU_27001747_Chip-Seq_BMDM_Mouse1.78759907
39ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.74781821
40RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.74661925
41VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.68198663
42* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.66451280
43NOTCH1_21737748_ChIP-Seq_TLL_Human1.65725897
44* MYB_26560356_Chip-Seq_TH1_Human1.62866384
45PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.62783850
46VDR_24787735_ChIP-Seq_THP-1_Human1.59902186
47* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.59060519
48SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.55342892
49MAF_26560356_Chip-Seq_TH1_Human1.55114515
50GATA2_21666600_ChIP-Seq_HMVEC_Human1.54685840
51E2F7_22180533_ChIP-Seq_HELA_Human1.52393218
52CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.51418036
53GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.50846439
54PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.44164086
55CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.38801251
56* GATA2_22383799_ChIP-Seq_G1ME_Mouse1.38547649
57HOXB4_20404135_ChIP-ChIP_EML_Mouse1.38201294
58BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.34553207
59* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.33556638
60GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.32426760
61UTX_26944678_Chip-Seq_JUKART_Human1.30381306
62* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.29456935
63KDM2B_26808549_Chip-Seq_DND41_Human1.28840191
64GATA3_26560356_Chip-Seq_TH2_Human1.27846688
65GATA3_27048872_Chip-Seq_THYMUS_Human1.27107358
66* GATA1_19941827_ChIP-Seq_MEL_Mouse1.26366858
67NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.26103366
68SMAD_19615063_ChIP-ChIP_OVARY_Human1.25172136
69TCF7_22412390_ChIP-Seq_EML_Mouse1.22468374
70GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.22337988
71* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.19272409
72RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.17865214
73KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.17748738
74STAT6_21828071_ChIP-Seq_BEAS2B_Human1.16751592
75IKZF1_21737484_ChIP-ChIP_HCT116_Human1.15070725
76CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.14579646
77CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.13433949
78* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.12960629
79CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.12251952
80SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.09574651
81CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.08884581
82PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.08352243
83RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.07672579
84MYC_22102868_ChIP-Seq_BL_Human1.06996137
85STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.06942160
86PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.06421142
87GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.06150526
88ELF1_17652178_ChIP-ChIP_JURKAT_Human1.01378698
89VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.98409679
90* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.98067994
91SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.96452765
92ELK3_25401928_ChIP-Seq_HUVEC_Human0.93932238
93GATA2_19941826_ChIP-Seq_K562_Human0.91582961
94ETS1_22383799_ChIP-Seq_G1ME_Mouse0.91567069
95TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.87445738
96* KDM2B_26808549_Chip-Seq_JURKAT_Human0.85363696
97MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.84221335
98GATA1_19941827_ChIP-Seq_MEL86_Mouse0.82998353
99IGF1R_20145208_ChIP-Seq_DFB_Human0.82236857
100* MAF_26560356_Chip-Seq_TH2_Human0.80206482
101PU.1_20513432_ChIP-Seq_Bcells_Mouse0.76124274
102GATA1_19941826_ChIP-Seq_K562_Human0.75464732
103* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.74509036
104STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.72879014
105EGR1_19032775_ChIP-ChIP_M12_Human0.69535402
106LXR_22292898_ChIP-Seq_THP-1_Human0.68923327
107* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.68661645
108* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.68143301
109SPI1_20517297_ChIP-Seq_HL60_Human0.68005230
110ELK1_19687146_ChIP-ChIP_HELA_Human0.65875217
111FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.65474769
112BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.65353351
113SMRT_27268052_Chip-Seq_Bcells_Human0.63176771
114* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.63060866
115THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.62872149
116KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.61180947
117KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.61174442
118TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.58710353

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.30449810
2MP0003436_decreased_susceptibility_to3.37193506
3MP0009785_altered_susceptibility_to3.36103131
4* MP0002419_abnormal_innate_immunity3.29204000
5MP0002148_abnormal_hypersensitivity_rea3.28953309
6MP0003724_increased_susceptibility_to3.08664989
7MP0005000_abnormal_immune_tolerance3.07337414
8MP0005671_abnormal_response_to3.03858932
9MP0005464_abnormal_platelet_physiology2.97405451
10MP0005025_abnormal_response_to2.92758265
11MP0003303_peritoneal_inflammation2.76027826
12* MP0002452_abnormal_antigen_presenting2.66651835
13MP0005174_abnormal_tail_pigmentation2.66448659
14MP0002396_abnormal_hematopoietic_system2.59995210
15MP0002723_abnormal_immune_serum2.55225813
16MP0006082_CNS_inflammation2.51160979
17MP0001800_abnormal_humoral_immune2.48742275
18* MP0002420_abnormal_adaptive_immunity2.46943190
19* MP0001819_abnormal_immune_cell2.45836770
20MP0000685_abnormal_immune_system2.33543931
21MP0003172_abnormal_lysosome_physiology2.22537392
22MP0001790_abnormal_immune_system2.21700577
23MP0005387_immune_system_phenotype2.21700577
24MP0005397_hematopoietic_system_phenotyp2.05474071
25MP0001545_abnormal_hematopoietic_system2.05474071
26MP0000465_gastrointestinal_hemorrhage2.02690983
27MP0005058_abnormal_lysosome_morphology1.99893838
28MP0002398_abnormal_bone_marrow1.96219447
29MP0005451_abnormal_body_composition1.95830475
30MP0002405_respiratory_system_inflammati1.88742798
31MP0009278_abnormal_bone_marrow1.86705398
32* MP0000716_abnormal_immune_system1.85937594
33MP0001853_heart_inflammation1.82430615
34MP0001533_abnormal_skeleton_physiology1.79825160
35MP0004510_myositis1.79321593
36MP0004808_abnormal_hematopoietic_stem1.78667619
37MP0003075_altered_response_to1.73243567
38MP0001845_abnormal_inflammatory_respons1.72129470
39MP0000015_abnormal_ear_pigmentation1.71081301
40MP0000569_abnormal_digit_pigmentation1.67317647
41MP0003183_abnormal_peptide_metabolism1.66514634
42MP0002006_tumorigenesis1.66169670
43MP0000343_altered_response_to1.65385462
44MP0000689_abnormal_spleen_morphology1.64717756
45MP0010155_abnormal_intestine_physiology1.62041756
46MP0009333_abnormal_splenocyte_physiolog1.59788699
47MP0005310_abnormal_salivary_gland1.55477434
48* MP0002429_abnormal_blood_cell1.55377814
49MP0002722_abnormal_immune_system1.52928284
50MP0003763_abnormal_thymus_physiology1.49017497
51MP0001851_eye_inflammation1.42833880
52MP0002095_abnormal_skin_pigmentation1.39671775
53MP0005409_darkened_coat_color1.38833840
54MP0008469_abnormal_protein_level1.37992279
55MP0005075_abnormal_melanosome_morpholog1.33887370
56MP0009840_abnormal_foam_cell1.33551748
57MP0002166_altered_tumor_susceptibility1.30823867
58MP0000858_altered_metastatic_potential1.29879514
59MP0004947_skin_inflammation1.27793353
60MP0003448_altered_tumor_morphology1.27745195
61MP0003866_abnormal_defecation1.22964396
62MP0001873_stomach_inflammation1.21832040
63MP0005166_decreased_susceptibility_to1.21563619
64MP0001986_abnormal_taste_sensitivity1.20442271
65MP0009764_decreased_sensitivity_to1.20088059
66* MP0000920_abnormal_myelination1.18086658
67MP0003828_pulmonary_edema1.15755519
68MP0000490_abnormal_crypts_of1.14746183
69MP0008004_abnormal_stomach_pH1.10939765
70MP0003191_abnormal_cellular_cholesterol1.05198617
71MP0005167_abnormal_blood-brain_barrier1.04326006
72MP0000703_abnormal_thymus_morphology1.00587098
73MP0003656_abnormal_erythrocyte_physiolo0.99640559
74* MP0002998_abnormal_bone_remodeling0.99013899
75MP0002933_joint_inflammation0.98877753
76MP0004381_abnormal_hair_follicle0.95908015
77MP0003690_abnormal_glial_cell0.95716459
78MP0002138_abnormal_hepatobiliary_system0.91254616
79MP0004147_increased_porphyrin_level0.89362784
80MP0008260_abnormal_autophagy0.87445619
81MP0001188_hyperpigmentation0.86821143
82MP0008057_abnormal_DNA_replication0.85420855
83MP0003091_abnormal_cell_migration0.81924877
84MP0001663_abnormal_digestive_system0.81014886
85MP0005390_skeleton_phenotype0.79120744
86MP0003045_fibrosis0.78665188
87MP0005164_abnormal_response_to0.77791672
88MP0002332_abnormal_exercise_endurance0.77754195
89MP0009763_increased_sensitivity_to0.75944205
90MP0002009_preneoplasia0.70416720
91MP0003806_abnormal_nucleotide_metabolis0.70277186
92MP0000249_abnormal_blood_vessel0.68359981
93MP0006054_spinal_hemorrhage0.67765407
94MP0003329_amyloid_beta_deposits0.66132582
95MP0000371_diluted_coat_color0.65716440
96MP0003300_gastrointestinal_ulcer0.64348328
97MP0008873_increased_physiological_sensi0.62942345
98MP0000604_amyloidosis0.62053890
99MP0002277_abnormal_respiratory_mucosa0.59863917
100MP0003453_abnormal_keratinocyte_physiol0.58374028
101MP0002019_abnormal_tumor_incidence0.58012781
102MP0002735_abnormal_chemical_nociception0.57204372
103MP0009115_abnormal_fat_cell0.56846581
104MP0002075_abnormal_coat/hair_pigmentati0.54749176
105MP0000372_irregular_coat_pigmentation0.53898771
106MP0004883_abnormal_blood_vessel0.53796656
107MP0004484_altered_response_of0.52809146
108* MP0003795_abnormal_bone_structure0.52555679
109MP0002133_abnormal_respiratory_system0.50434469
110MP0002132_abnormal_respiratory_system0.49500053
111MP0003633_abnormal_nervous_system0.49491053
112MP0002877_abnormal_melanocyte_morpholog0.48522941
113MP0001905_abnormal_dopamine_level0.47841271
114MP0003186_abnormal_redox_activity0.47636365
115MP0009765_abnormal_xenobiotic_induced0.45640368
116MP0008874_decreased_physiological_sensi0.43553202

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)7.39881442
2Recurrent bacterial skin infections (HP:0005406)6.70015224
3Eczematoid dermatitis (HP:0000976)6.24306023
4Recurrent gram-negative bacterial infections (HP:0005420)4.97654077
5Abnormality of macrophages (HP:0004311)4.66552020
6Myositis (HP:0100614)4.49237423
7Mediastinal lymphadenopathy (HP:0100721)4.45269798
8Recurrent skin infections (HP:0001581)4.44483013
9Elevated erythrocyte sedimentation rate (HP:0003565)4.29223351
10Chronic obstructive pulmonary disease (HP:0006510)4.20518473
11Obstructive lung disease (HP:0006536)4.20518473
12Recurrent fungal infections (HP:0002841)4.08811225
13Stomatitis (HP:0010280)3.88637294
14Petechiae (HP:0000967)3.85820986
15Increased neuronal autofluorescent lipopigment (HP:0002074)3.69485945
16Optic neuritis (HP:0100653)3.59364969
17Retrobulbar optic neuritis (HP:0100654)3.59364969
18Increased cerebral lipofuscin (HP:0011813)3.55714745
19Cellulitis (HP:0100658)3.51713913
20Gingivitis (HP:0000230)3.50363960
21Meningitis (HP:0001287)3.46416883
22Orchitis (HP:0100796)3.45954446
23Recurrent viral infections (HP:0004429)3.43919589
24Prolonged bleeding time (HP:0003010)3.43557206
25Chronic mucocutaneous candidiasis (HP:0002728)3.42540998
26Recurrent cutaneous fungal infections (HP:0011370)3.42540998
27Chronic otitis media (HP:0000389)3.32946044
28T lymphocytopenia (HP:0005403)3.32943118
29Amyloidosis (HP:0011034)3.30010133
30Gastrointestinal infarctions (HP:0005244)3.22000806
31Abnormality of T cell number (HP:0011839)3.19842694
32Vacuolated lymphocytes (HP:0001922)3.15148024
33Thrombocytosis (HP:0001894)3.13746477
34IgM deficiency (HP:0002850)3.02881206
35Disinhibition (HP:0000734)2.95864266
36Vasculitis (HP:0002633)2.88101374
37Periodontitis (HP:0000704)2.84108929
38Epistaxis (HP:0000421)2.83449762
39Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.76093335
40Agnosia (HP:0010524)2.72946457
41Abnormal delayed hypersensitivity skin test (HP:0002963)2.71447822
42Abnormality of the prostate (HP:0008775)2.69213553
43Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.69207669
44Panhypogammaglobulinemia (HP:0003139)2.67896476
45Abnormality of liposaccharide metabolism (HP:0010968)2.59212501
46Abnormality of glycosphingolipid metabolism (HP:0004343)2.59212501
47Abnormality of glycolipid metabolism (HP:0010969)2.59212501
48Interstitial pulmonary disease (HP:0006530)2.57221028
49Prostate neoplasm (HP:0100787)2.55426505
50Osteomyelitis (HP:0002754)2.54832338
51Leukocytosis (HP:0001974)2.53969953
52Recurrent pneumonia (HP:0006532)2.53486542
53Urticaria (HP:0001025)2.50690779
54Pulmonary embolism (HP:0002204)2.49156779
55Axonal loss (HP:0003447)2.48563946
56Abnormal platelet function (HP:0011869)2.45932074
57Impaired platelet aggregation (HP:0003540)2.45932074
58Gangrene (HP:0100758)2.44529775
59Spontaneous hematomas (HP:0007420)2.43116305
60Pulmonary infiltrates (HP:0002113)2.42634849
61Episodic fever (HP:0001954)2.42550359
62Purpura (HP:0000979)2.38320262
63Systemic lupus erythematosus (HP:0002725)2.37903901
64Keratoconjunctivitis sicca (HP:0001097)2.36771131
65Agammaglobulinemia (HP:0004432)2.34509829
66Inflammation of the large intestine (HP:0002037)2.34361823
67Hematochezia (HP:0002573)2.33744391
68Thyroiditis (HP:0100646)2.33735657
69Gingival bleeding (HP:0000225)2.31757456
70Hemoptysis (HP:0002105)2.31689153
71Abnormality of T cell physiology (HP:0011840)2.30150834
72Basal ganglia calcification (HP:0002135)2.29197481
73Abnormality of the pleura (HP:0002103)2.28420526
74Myocardial infarction (HP:0001658)2.28126012
75Gastrointestinal stroma tumor (HP:0100723)2.28124947
76Encephalitis (HP:0002383)2.26115792
77Recurrent lower respiratory tract infections (HP:0002783)2.22011571
78Acute myeloid leukemia (HP:0004808)2.21077738
79Anorexia (HP:0002039)2.20723954
80Autoimmune thrombocytopenia (HP:0001973)2.18262232
81Aplastic anemia (HP:0001915)2.17888875
82Gastrointestinal inflammation (HP:0004386)2.16354303
83Colitis (HP:0002583)2.14465043
84Albinism (HP:0001022)2.14330491
85Keratoconjunctivitis (HP:0001096)2.13639852
86Arterial thrombosis (HP:0004420)2.13009082
87Autoimmune hemolytic anemia (HP:0001890)2.11297244
88Abnormality of polysaccharide metabolism (HP:0011012)2.11259496
89Abnormality of glycosaminoglycan metabolism (HP:0004371)2.11259496
90Abnormality of mucopolysaccharide metabolism (HP:0011020)2.11259496
91Lymphopenia (HP:0001888)2.10560035
92Sepsis (HP:0100806)2.09409101
93Inappropriate behavior (HP:0000719)2.09267561
94Vertigo (HP:0002321)2.09260514
95Hepatosplenomegaly (HP:0001433)2.08807745
96Polyneuropathy (HP:0001271)2.07837269
97Pustule (HP:0200039)2.06223254
98Thoracic kyphosis (HP:0002942)2.04059877
99Increased IgM level (HP:0003496)2.03327430
100Abnormality of the endocardium (HP:0004306)2.02609529
101Glomerulopathy (HP:0100820)2.00944844
102Abnormality of T cells (HP:0002843)2.00881671
103Increased serum ferritin (HP:0003281)2.00397209
104Abnormality of cells of the lymphoid lineage (HP:0012140)1.99045526
105Mucopolysacchariduria (HP:0008155)1.98960990
106Urinary glycosaminoglycan excretion (HP:0003541)1.98960990
107Abnormality of eosinophils (HP:0001879)1.97995854
108Viral hepatitis (HP:0006562)1.97656505
109Increased CSF protein (HP:0002922)1.97366036
110Patchy hypopigmentation of hair (HP:0011365)1.96709322
111Slow saccadic eye movements (HP:0000514)1.96390841
112Granulocytopenia (HP:0001913)1.93457738
113Mutism (HP:0002300)1.92996536
114Papilledema (HP:0001085)1.92918430
115Eosinophilia (HP:0001880)1.92522521
116Dysostosis multiplex (HP:0000943)1.91716346
117White forelock (HP:0002211)1.90662195
118Cheilitis (HP:0100825)1.88429983
119Peritonitis (HP:0002586)1.87932950
120Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.87910722
121Amaurosis fugax (HP:0100576)1.87689185
122Hypergammaglobulinemia (HP:0010702)1.87684881
123Increased IgE level (HP:0003212)1.86030382
124Menorrhagia (HP:0000132)1.84144000
125Abnormality of the peritoneum (HP:0002585)1.82193762
126Glomerulonephritis (HP:0000099)1.80745368
127Recurrent bronchitis (HP:0002837)1.79201862
128Loss of speech (HP:0002371)1.76996160
129Skin ulcer (HP:0200042)1.75558557
130Chest pain (HP:0100749)1.73791458
131Arthralgia (HP:0002829)1.70952818

Predicted kinase interactions (KEA)

RankGene SetZ-score
1RIPK44.67122407
2IRAK43.67551160
3KIT3.53147415
4BLK3.26327111
5MAP4K12.91834558
6TXK2.82932339
7FES2.70407680
8MAP3K142.62644566
9MAP3K122.46583742
10PRPF4B2.42917008
11TNIK2.36694897
12TEC2.32512856
13TBK12.31911850
14BTK2.20944158
15IKBKE1.94206578
16ERN11.91827451
17MATK1.91156554
18CSF1R1.87582016
19SYK1.86392433
20TAOK31.83220194
21IKBKB1.72918355
22MAPKAPK51.68738645
23MAP3K31.63993350
24PBK1.61373781
25IRAK31.59284024
26LYN1.54436917
27TGFBR21.53495309
28JAK31.53455977
29GRK71.50957178
30CLK11.46042421
31TYK21.43722850
32LCK1.41543304
33PIM21.39559693
34HCK1.39222309
35EPHB11.37567625
36MAP3K131.31216432
37ZAP701.28923438
38ADRBK21.24951886
39MUSK1.22867572
40MAP3K11.22638435
41PIK3CG1.21672376
42YES11.13563423
43CSK1.10169380
44MAP2K31.04444197
45NME21.01577745
46PIM10.96556574
47TRPM70.95674581
48KSR20.93783064
49JAK10.89933322
50ITK0.88405482
51SIK20.85775733
52TAOK20.85643793
53CDC42BPA0.83642370
54STK160.82745046
55SIK30.81264162
56MAPK70.80012072
57STK100.78493365
58MAP3K20.77611370
59CDK190.77554654
60CAMKK20.75719784
61MARK20.75661585
62NLK0.73667413
63MST40.72091491
64TNK20.72077846
65MOS0.69145861
66MAP3K60.66785446
67STK40.66369879
68TGFBR10.66104870
69BMPR20.65526586
70CHUK0.65172613
71SGK30.64265355
72FGR0.64190642
73MARK30.63175169
74PDK10.60575160
75MKNK10.59946982
76MAPK40.59554652
77ABL20.58205051
78PRKCD0.58132954
79EPHA30.56973942
80PTK2B0.56791698
81FGFR30.56661958
82SGK20.56239022
83NEK90.55463289
84EIF2AK20.54518185
85JAK20.54176888
86DAPK20.53876186
87MAP3K50.53745157
88CAMK1D0.52442643
89HIPK20.50646593
90RPS6KL10.48581013
91RPS6KC10.48581013
92ACVR1B0.48438615
93TTN0.46955599
94GRK60.46935252
95IRAK10.46664187
96CDK60.46422210
97RPS6KA40.46267263
98MAP2K60.45980327
99ABL10.45880769
100MAPK120.45780974
101VRK10.45672940
102PDK20.45126993
103DAPK10.43762265
104CDK80.43349160
105PRKCQ0.43311300
106FLT30.43286074
107BMPR1B0.43050831
108EIF2AK30.41448681
109MST1R0.40576179
110PDPK10.40223581
111FYN0.39954510
112CAMK10.39354039
113RPS6KA60.39076037
114PDGFRB0.38306241
115NEK60.38137276
116MAP3K110.36068533
117KSR10.35715977
118CAMKK10.35411763
119TESK20.35091206
120IRAK20.35000067
121MAPKAPK20.34967132
122PRKD20.34481435
123PTK60.34472705
124CAMK40.33303012
125STK110.33155331
126RAF10.32456067
127MAP3K70.31931249
128LRRK20.29649935
129MAP2K70.28950909
130EEF2K0.28767960
131BRSK20.28694361
132RPS6KA50.28307504
133TAOK10.26500844
134PRKG20.26236792
135TIE10.26080551

Predicted pathways (KEGG)

RankGene SetZ-score
1Leishmaniasis_Homo sapiens_hsa051403.16594585
2Osteoclast differentiation_Homo sapiens_hsa043802.45572507
3Toll-like receptor signaling pathway_Homo sapiens_hsa046202.24191332
4Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.22973176
5Graft-versus-host disease_Homo sapiens_hsa053322.20946421
6Pertussis_Homo sapiens_hsa051332.07988521
7NOD-like receptor signaling pathway_Homo sapiens_hsa046212.06988116
8NF-kappa B signaling pathway_Homo sapiens_hsa040642.02179229
9Hematopoietic cell lineage_Homo sapiens_hsa046402.01815191
10B cell receptor signaling pathway_Homo sapiens_hsa046622.01315199
11Staphylococcus aureus infection_Homo sapiens_hsa051502.00620499
12Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.99360440
13Tuberculosis_Homo sapiens_hsa051521.98692333
14Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.91040117
15Legionellosis_Homo sapiens_hsa051341.90528537
16Rheumatoid arthritis_Homo sapiens_hsa053231.88600134
17Malaria_Homo sapiens_hsa051441.85897541
18Measles_Homo sapiens_hsa051621.85549888
19Other glycan degradation_Homo sapiens_hsa005111.77985254
20RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.77674478
21Allograft rejection_Homo sapiens_hsa053301.72073620
22Primary immunodeficiency_Homo sapiens_hsa053401.70160266
23Salmonella infection_Homo sapiens_hsa051321.68697195
24Asthma_Homo sapiens_hsa053101.62545915
25Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.61069078
26Phagosome_Homo sapiens_hsa041451.57697954
27Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.53402084
28Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.49754560
29Intestinal immune network for IgA production_Homo sapiens_hsa046721.40279131
30Lysosome_Homo sapiens_hsa041421.38811726
31Platelet activation_Homo sapiens_hsa046111.37435944
32Shigellosis_Homo sapiens_hsa051311.35633144
33TNF signaling pathway_Homo sapiens_hsa046681.35627570
34Antigen processing and presentation_Homo sapiens_hsa046121.34652077
35Chemokine signaling pathway_Homo sapiens_hsa040621.34248778
36African trypanosomiasis_Homo sapiens_hsa051431.33470457
37Type I diabetes mellitus_Homo sapiens_hsa049401.26075887
38Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.25788671
39Toxoplasmosis_Homo sapiens_hsa051451.25204629
40Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.24623945
41Influenza A_Homo sapiens_hsa051641.23834434
42Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.23828197
43SNARE interactions in vesicular transport_Homo sapiens_hsa041301.23308328
44Herpes simplex infection_Homo sapiens_hsa051681.22959401
45Jak-STAT signaling pathway_Homo sapiens_hsa046301.16185829
46Glycosaminoglycan degradation_Homo sapiens_hsa005311.15840358
47Apoptosis_Homo sapiens_hsa042101.08158011
48Hepatitis B_Homo sapiens_hsa051611.04130622
49Acute myeloid leukemia_Homo sapiens_hsa052211.03384066
50Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.00408215
51T cell receptor signaling pathway_Homo sapiens_hsa046600.95457123
52Transcriptional misregulation in cancer_Homo sapiens_hsa052020.91796530
53Leukocyte transendothelial migration_Homo sapiens_hsa046700.91718951
54Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.90749127
55Ribosome_Homo sapiens_hsa030100.90107251
56Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.89614755
57Sphingolipid metabolism_Homo sapiens_hsa006000.89005016
58Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.87392741
59Sphingolipid signaling pathway_Homo sapiens_hsa040710.84150227
60AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.80630631
61DNA replication_Homo sapiens_hsa030300.77214381
62Dorso-ventral axis formation_Homo sapiens_hsa043200.76910550
63Renal cell carcinoma_Homo sapiens_hsa052110.75988657
64Neurotrophin signaling pathway_Homo sapiens_hsa047220.70741064
65Pancreatic cancer_Homo sapiens_hsa052120.69654749
66Hepatitis C_Homo sapiens_hsa051600.65482524
67Collecting duct acid secretion_Homo sapiens_hsa049660.64679671
68Autoimmune thyroid disease_Homo sapiens_hsa053200.60981231
69Chronic myeloid leukemia_Homo sapiens_hsa052200.60218327
70GnRH signaling pathway_Homo sapiens_hsa049120.57857905
71Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.57392051
72Viral myocarditis_Homo sapiens_hsa054160.57175681
73Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.55510741
74Homologous recombination_Homo sapiens_hsa034400.55302831
75Amoebiasis_Homo sapiens_hsa051460.54461772
76FoxO signaling pathway_Homo sapiens_hsa040680.53417681
77Base excision repair_Homo sapiens_hsa034100.52541477
78Non-homologous end-joining_Homo sapiens_hsa034500.52531614
79Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.51720247
80Epstein-Barr virus infection_Homo sapiens_hsa051690.50863936
81Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.50091995
82Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.49550455
83Adipocytokine signaling pathway_Homo sapiens_hsa049200.48780252
84Notch signaling pathway_Homo sapiens_hsa043300.47876141
85Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.47395317
86Type II diabetes mellitus_Homo sapiens_hsa049300.47135894
87Ether lipid metabolism_Homo sapiens_hsa005650.45488296
88Insulin resistance_Homo sapiens_hsa049310.43044596
89HTLV-I infection_Homo sapiens_hsa051660.42831320
90Choline metabolism in cancer_Homo sapiens_hsa052310.42366926
91mTOR signaling pathway_Homo sapiens_hsa041500.39515719
92Complement and coagulation cascades_Homo sapiens_hsa046100.37987320
93Carbohydrate digestion and absorption_Homo sapiens_hsa049730.37927705
94Endometrial cancer_Homo sapiens_hsa052130.37506526
95Non-small cell lung cancer_Homo sapiens_hsa052230.36371965
96VEGF signaling pathway_Homo sapiens_hsa043700.35024580
97Estrogen signaling pathway_Homo sapiens_hsa049150.35013281
98Inositol phosphate metabolism_Homo sapiens_hsa005620.34987662
99N-Glycan biosynthesis_Homo sapiens_hsa005100.34676100
100Bladder cancer_Homo sapiens_hsa052190.34519144
101Prolactin signaling pathway_Homo sapiens_hsa049170.34244678
102Regulation of actin cytoskeleton_Homo sapiens_hsa048100.33846279
103ErbB signaling pathway_Homo sapiens_hsa040120.33253994
104Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.31670162
105Endocytosis_Homo sapiens_hsa041440.31214610
106Phospholipase D signaling pathway_Homo sapiens_hsa040720.30847859
107Rap1 signaling pathway_Homo sapiens_hsa040150.29373861
108Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.26789299
109Caffeine metabolism_Homo sapiens_hsa002320.25507632
110Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.25457924
111Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.25014244
112Viral carcinogenesis_Homo sapiens_hsa052030.24170676
113Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.23941506
114Mismatch repair_Homo sapiens_hsa034300.23101952
115MAPK signaling pathway_Homo sapiens_hsa040100.22719636
116Phosphatidylinositol signaling system_Homo sapiens_hsa040700.22202624
117HIF-1 signaling pathway_Homo sapiens_hsa040660.22132809
118Colorectal cancer_Homo sapiens_hsa052100.19863961

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