INPP5D

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Alternative splicing of this gene results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of gamma-delta T cell activation (GO:0046645)5.27106234
2regulation of B cell receptor signaling pathway (GO:0050855)5.02267589
3antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.82702414
4positive regulation by symbiont of host defense response (GO:0052509)4.72583306
5modulation by symbiont of host defense response (GO:0052031)4.72583306
6modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.72583306
7modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.72583306
8positive regulation by organism of defense response of other organism involved in symbiotic interact4.72583306
9modulation by symbiont of host immune response (GO:0052553)4.72583306
10B cell receptor signaling pathway (GO:0050853)4.51249351
11regulation of interferon-beta biosynthetic process (GO:0045357)4.50833610
12antigen processing and presentation of endogenous antigen (GO:0019883)4.35552960
13antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.27738977
14antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.27738977
15detection of other organism (GO:0098543)4.19493813
16detection of bacterium (GO:0016045)4.15740042
17negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.97470810
18negative regulation of cell killing (GO:0031342)3.97470810
19negative regulation of phagocytosis (GO:0050765)3.97237412
20regulation of gamma-delta T cell differentiation (GO:0045586)3.92105212
21negative regulation of erythrocyte differentiation (GO:0045647)3.90404907
22* positive regulation of B cell differentiation (GO:0045579)3.89305336
23macrophage activation involved in immune response (GO:0002281)3.85261087
24positive T cell selection (GO:0043368)3.80417454
25positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.76951279
26negative regulation of T cell mediated immunity (GO:0002710)3.74041766
27negative regulation of lymphocyte mediated immunity (GO:0002707)3.73926787
28regulation of gamma-delta T cell activation (GO:0046643)3.70464048
29T cell selection (GO:0045058)3.68784433
30cellular extravasation (GO:0045123)3.61975527
31cellular response to interleukin-15 (GO:0071350)3.61931304
32* regulation of B cell differentiation (GO:0045577)3.54833415
33regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.54089480
34positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.52779982
35tolerance induction (GO:0002507)3.44937036
36negative regulation of leukocyte mediated immunity (GO:0002704)3.43707494
37detection of external biotic stimulus (GO:0098581)3.43396745
38positive regulation of interferon-alpha production (GO:0032727)3.42720044
39neutrophil activation involved in immune response (GO:0002283)3.42622429
40regulation of myeloid leukocyte mediated immunity (GO:0002886)3.37687195
41regulation of interferon-alpha production (GO:0032647)3.31090870
42microglial cell activation (GO:0001774)3.29598213
43positive thymic T cell selection (GO:0045059)3.28592786
44regulation of alpha-beta T cell proliferation (GO:0046640)3.27601816
45type I interferon signaling pathway (GO:0060337)3.25454726
46cellular response to type I interferon (GO:0071357)3.25454726
47response to type I interferon (GO:0034340)3.24225567
48respiratory burst (GO:0045730)3.18381737
49myeloid cell activation involved in immune response (GO:0002275)3.16274032
50positive regulation of antigen processing and presentation (GO:0002579)3.15569156
51regulation of leukocyte degranulation (GO:0043300)3.14892395
52leukocyte aggregation (GO:0070486)3.13497750
53regulation of dendritic cell antigen processing and presentation (GO:0002604)3.13341304
54regulation of tolerance induction (GO:0002643)3.09689820
55pinocytosis (GO:0006907)3.08890840
56negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.07140209
57* B cell mediated immunity (GO:0019724)3.06388655
58neutrophil activation (GO:0042119)3.04516978
59detection of biotic stimulus (GO:0009595)3.03888436
60response to muramyl dipeptide (GO:0032495)3.03453027
61B cell homeostasis (GO:0001782)3.02984516
62regulation of T cell tolerance induction (GO:0002664)3.02585178
63mature B cell differentiation (GO:0002335)3.00536268
64positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.99345499
65Peyers patch development (GO:0048541)2.99171713
66mucosal-associated lymphoid tissue development (GO:0048537)2.99171713
67positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.99119146
68mast cell activation (GO:0045576)2.98903756
69negative regulation of interleukin-12 production (GO:0032695)2.97656083
70Arp2/3 complex-mediated actin nucleation (GO:0034314)2.95634758
71leukocyte degranulation (GO:0043299)2.95594273
72detection of molecule of bacterial origin (GO:0032490)2.95352013
73activated T cell proliferation (GO:0050798)2.94298233
74* immunoglobulin mediated immune response (GO:0016064)2.93896829
75response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.93099984
76response to host immune response (GO:0052572)2.93099984
77antigen processing and presentation via MHC class Ib (GO:0002475)2.92706796
78myeloid dendritic cell activation (GO:0001773)2.91995383
79positive regulation of mast cell degranulation (GO:0043306)2.90907443
80positive regulation of mast cell activation involved in immune response (GO:0033008)2.90907443
81response to peptidoglycan (GO:0032494)2.89302134
82regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.88881191
83regulation of natural killer cell mediated immunity (GO:0002715)2.88881191
84lymphocyte homeostasis (GO:0002260)2.88279613
85regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.87942740
86T cell migration (GO:0072678)2.87781726
87response to host (GO:0075136)2.83694583
88response to host defenses (GO:0052200)2.83694583
89response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.83694583
90regulation of interleukin-12 biosynthetic process (GO:0045075)2.83612414
91regulation of mast cell degranulation (GO:0043304)2.83281550
92defense response to protozoan (GO:0042832)2.83196820
93natural killer cell differentiation (GO:0001779)2.82769186
94granulocyte activation (GO:0036230)2.81556284
95T cell homeostasis (GO:0043029)2.81152518
96negative thymic T cell selection (GO:0045060)2.80777965
97cellular response to zinc ion (GO:0071294)2.78145365
98response to protozoan (GO:0001562)2.77333492
99positive regulation of chemokine secretion (GO:0090197)2.76917680
100macrophage activation (GO:0042116)2.70974977
101megakaryocyte development (GO:0035855)2.70313279
102germinal center formation (GO:0002467)2.69370067
103negative T cell selection (GO:0043383)2.68135093
104regulation of mast cell activation involved in immune response (GO:0033006)2.65239330
105positive regulation of interferon-beta production (GO:0032728)2.65150019
106regulation of mast cell activation (GO:0033003)2.63876734
107regulation of antigen processing and presentation (GO:0002577)2.60599913
108mature B cell differentiation involved in immune response (GO:0002313)2.60175799
109hepatocyte apoptotic process (GO:0097284)2.60097064
110regulation of B cell apoptotic process (GO:0002902)2.58277742
111B cell proliferation (GO:0042100)2.58237554
112myeloid leukocyte activation (GO:0002274)2.57300746
113* antigen receptor-mediated signaling pathway (GO:0050851)2.55821939
114mast cell activation involved in immune response (GO:0002279)2.55301150
115mast cell degranulation (GO:0043303)2.55301150
116response to interleukin-15 (GO:0070672)2.54528225
117myeloid dendritic cell differentiation (GO:0043011)2.53323260
118NIK/NF-kappaB signaling (GO:0038061)2.51033335
119negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.50794144
120leukocyte homeostasis (GO:0001776)2.50234630
121mannose metabolic process (GO:0006013)2.50228674
122interferon-gamma production (GO:0032609)2.50136105
123positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.49869570
124interferon-gamma-mediated signaling pathway (GO:0060333)2.48559711
125leukocyte cell-cell adhesion (GO:0007159)2.47417243
126positive regulation of granulocyte differentiation (GO:0030854)2.47259780
127positive regulation of mast cell activation (GO:0033005)2.46841885
128thymic T cell selection (GO:0045061)2.43892769
129positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.41768415
130adaptation of signaling pathway (GO:0023058)2.40638061
131germ cell migration (GO:0008354)2.40624527
132regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.40569785
133dendritic cell differentiation (GO:0097028)2.40279718
134JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.38067621

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.28759007
2IRF8_22096565_ChIP-ChIP_GC-B_Human3.89214567
3IRF8_21731497_ChIP-ChIP_J774_Mouse3.72463404
4EGR1_19374776_ChIP-ChIP_THP-1_Human3.51299058
5MYC_22102868_ChIP-Seq_BL_Human3.28322007
6* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.26053362
7FOXM1_23109430_ChIP-Seq_U2OS_Human3.19127414
8STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.12398582
9FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.05706347
10SCL_19346495_ChIP-Seq_HPC-7_Human3.04953322
11BP1_19119308_ChIP-ChIP_Hs578T_Human3.02818909
12IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.92845400
13* SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.86695889
14IRF8_27001747_Chip-Seq_BMDM_Mouse2.86243544
15* VDR_21846776_ChIP-Seq_THP-1_Human2.82435458
16* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.77281506
17MYB_21317192_ChIP-Seq_ERMYB_Mouse2.51067309
18* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.45511164
19* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.38952163
20* SPI1_23547873_ChIP-Seq_NB4_Human2.31449669
21NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.29402278
22MYB_26560356_Chip-Seq_TH2_Human2.18633036
23STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.13840958
24* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.12847104
25MAF_26560356_Chip-Seq_TH1_Human2.12123401
26* BRD4_27068464_Chip-Seq_AML-cells_Mouse2.07828189
27ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.07583432
28E2F4_17652178_ChIP-ChIP_JURKAT_Human2.07279452
29NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.05424486
30MYB_26560356_Chip-Seq_TH1_Human2.02798644
31* VDR_24763502_ChIP-Seq_THP-1_Human2.00884805
32* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.00246731
33RUNX_20019798_ChIP-Seq_JUKART_Human1.99366960
34* RUNX1_22412390_ChIP-Seq_EML_Mouse1.98491865
35* TCF7_22412390_ChIP-Seq_EML_Mouse1.95161921
36STAT4_19710469_ChIP-ChIP_TH1__Mouse1.90935060
37UTX_26944678_Chip-Seq_JUKART_Human1.89399536
38SPI1_23127762_ChIP-Seq_K562_Human1.88877000
39E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.87437114
40* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.75816805
41* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.74876920
42* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.67903955
43CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.66878506
44* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.63956593
45CIITA_25753668_ChIP-Seq_RAJI_Human1.62618713
46FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.56855535
47IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.56608207
48MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.53687133
49VDR_24787735_ChIP-Seq_THP-1_Human1.50918456
50GATA2_22383799_ChIP-Seq_G1ME_Mouse1.44161757
51NOTCH1_21737748_ChIP-Seq_TLL_Human1.43035759
52* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.41969616
53STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.40331252
54* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.35610838
55MAF_26560356_Chip-Seq_TH2_Human1.35087839
56* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.34810388
57PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.34513740
58ELF1_17652178_ChIP-ChIP_JURKAT_Human1.33641839
59KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.32324203
60* GATA1_19941826_ChIP-Seq_K562_Human1.32312043
61* PU_27001747_Chip-Seq_BMDM_Mouse1.31433491
62HOXB4_20404135_ChIP-ChIP_EML_Mouse1.30041405
63GATA1_22025678_ChIP-Seq_K562_Human1.30037690
64* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.28385358
65* KDM2B_26808549_Chip-Seq_DND41_Human1.27126958
66* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.25709187
67GATA3_27048872_Chip-Seq_THYMUS_Human1.24109048
68GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.20479382
69* ELK3_25401928_ChIP-Seq_HUVEC_Human1.20209825
70SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.19934608
71LXR_22292898_ChIP-Seq_THP-1_Human1.18718097
72GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.18660779
73KDM2B_26808549_Chip-Seq_SUP-B15_Human1.18095284
74* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.17699442
75* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.17010290
76CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.16254227
77VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.15236136
78E2F1_21310950_ChIP-Seq_MCF-7_Human1.15163795
79NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.14284789
80TFEB_21752829_ChIP-Seq_HELA_Human1.13620121
81KDM2B_26808549_Chip-Seq_JURKAT_Human1.12602023
82GATA1_19941827_ChIP-Seq_MEL_Mouse1.12468421
83* BCL6_27268052_Chip-Seq_Bcells_Human1.10506849
84SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.09990105
85RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.09609291
86VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.06336588
87LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.04981823
88ELF1_20517297_ChIP-Seq_JURKAT_Human1.04364501
89VDR_23849224_ChIP-Seq_CD4+_Human1.03536769
90THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.02441653
91TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.01394825
92CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.01313311
93IKZF1_21737484_ChIP-ChIP_HCT116_Human1.00852257
94MYC_18555785_ChIP-Seq_MESCs_Mouse0.99939288
95* FOXP3_21729870_ChIP-Seq_TREG_Human0.99601547
96* BCOR_27268052_Chip-Seq_Bcells_Human0.98470738
97RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.96942693
98PU.1_20513432_ChIP-Seq_Bcells_Mouse0.93402076
99* GATA2_19941826_ChIP-Seq_K562_Human0.93108525
100MYC_19079543_ChIP-ChIP_MESCs_Mouse0.93052964
101* GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.92776229
102NCOR1_26117541_ChIP-Seq_K562_Human0.89564132
103GATA3_26560356_Chip-Seq_TH2_Human0.89412603
104SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.89236430
105KDM5A_27292631_Chip-Seq_BREAST_Human0.88455796
106CTCF_27219007_Chip-Seq_ERYTHROID_Human0.88124099
107SMAD_19615063_ChIP-ChIP_OVARY_Human0.85046220
108* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.84457860
109* SPI1_20517297_ChIP-Seq_HL60_Human0.84416511
110CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.83809834
111GATA2_21666600_ChIP-Seq_HMVEC_Human0.82325842
112CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.80163000
113MYC_19030024_ChIP-ChIP_MESCs_Mouse0.78672549
114SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.76923606
115MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.76488298
116NELFA_20434984_ChIP-Seq_ESCs_Mouse0.74865900
117PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.74651836
118* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.74001155
119PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.73896780
120RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.73641367

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.18233658
2MP0002396_abnormal_hematopoietic_system3.09333386
3* MP0001800_abnormal_humoral_immune3.01024972
4MP0003303_peritoneal_inflammation2.93194216
5MP0000685_abnormal_immune_system2.73932004
6* MP0002452_abnormal_antigen_presenting2.73906429
7* MP0005671_abnormal_response_to2.71868003
8MP0003436_decreased_susceptibility_to2.66820380
9MP0005387_immune_system_phenotype2.66186704
10MP0001790_abnormal_immune_system2.66186704
11MP0005000_abnormal_immune_tolerance2.59919169
12* MP0002723_abnormal_immune_serum2.49818308
13* MP0002420_abnormal_adaptive_immunity2.47861298
14* MP0001819_abnormal_immune_cell2.46496719
15* MP0002419_abnormal_innate_immunity2.43042354
16* MP0002398_abnormal_bone_marrow2.38331015
17MP0006082_CNS_inflammation2.36309508
18* MP0005025_abnormal_response_to2.25090595
19* MP0005464_abnormal_platelet_physiology2.24330294
20MP0003172_abnormal_lysosome_physiology2.20059053
21MP0005058_abnormal_lysosome_morphology2.18119110
22MP0009785_altered_susceptibility_to2.17949227
23MP0003763_abnormal_thymus_physiology2.14736338
24* MP0000689_abnormal_spleen_morphology2.13838817
25* MP0000716_abnormal_immune_system2.12880972
26MP0009278_abnormal_bone_marrow2.06695794
27MP0004808_abnormal_hematopoietic_stem2.04961986
28MP0003300_gastrointestinal_ulcer2.04947710
29MP0002148_abnormal_hypersensitivity_rea2.03783203
30MP0002405_respiratory_system_inflammati2.01931609
31* MP0002722_abnormal_immune_system2.00434711
32MP0000465_gastrointestinal_hemorrhage1.98894199
33MP0002166_altered_tumor_susceptibility1.93305923
34MP0008057_abnormal_DNA_replication1.92418179
35MP0001545_abnormal_hematopoietic_system1.92027545
36MP0005397_hematopoietic_system_phenotyp1.92027545
37* MP0002429_abnormal_blood_cell1.85113304
38MP0001873_stomach_inflammation1.84940500
39MP0003191_abnormal_cellular_cholesterol1.80802455
40MP0009333_abnormal_splenocyte_physiolog1.78774512
41MP0001853_heart_inflammation1.75326678
42MP0010155_abnormal_intestine_physiology1.64352733
43MP0010307_abnormal_tumor_latency1.64187920
44MP0010094_abnormal_chromosome_stability1.62037510
45* MP0000703_abnormal_thymus_morphology1.61109060
46MP0005174_abnormal_tail_pigmentation1.60149747
47MP0001845_abnormal_inflammatory_respons1.59174061
48MP0000569_abnormal_digit_pigmentation1.55407350
49MP0004510_myositis1.54298020
50MP0004947_skin_inflammation1.54136138
51MP0000490_abnormal_crypts_of1.53505215
52MP0002006_tumorigenesis1.48662206
53MP0003077_abnormal_cell_cycle1.43281116
54MP0003693_abnormal_embryo_hatching1.41323295
55MP0003111_abnormal_nucleus_morphology1.39848033
56MP0005451_abnormal_body_composition1.39357389
57MP0003724_increased_susceptibility_to1.37971491
58MP0010352_gastrointestinal_tract_polyps1.37149925
59MP0001533_abnormal_skeleton_physiology1.32852009
60MP0008260_abnormal_autophagy1.32027908
61MP0005310_abnormal_salivary_gland1.31350933
62MP0003183_abnormal_peptide_metabolism1.30870264
63MP0004381_abnormal_hair_follicle1.30383554
64MP0008007_abnormal_cellular_replicative1.27517030
65MP0003866_abnormal_defecation1.21538783
66MP0009840_abnormal_foam_cell1.18091524
67* MP0008469_abnormal_protein_level1.17740544
68MP0000858_altered_metastatic_potential1.15711016
69MP0003448_altered_tumor_morphology1.14292832
70MP0003566_abnormal_cell_adhesion1.13568914
71MP0002019_abnormal_tumor_incidence1.12921225
72MP0005075_abnormal_melanosome_morpholog1.12681414
73MP0002009_preneoplasia1.11617605
74MP0001986_abnormal_taste_sensitivity1.10677418
75MP0008058_abnormal_DNA_repair1.10414842
76MP0005076_abnormal_cell_differentiation1.10358003
77MP0002138_abnormal_hepatobiliary_system1.10012305
78MP0000015_abnormal_ear_pigmentation1.06311701
79MP0001851_eye_inflammation1.05266017
80MP0002933_joint_inflammation1.04156087
81MP0000343_altered_response_to1.00567019
82MP0004883_abnormal_blood_vessel0.90774352
83MP0003075_altered_response_to0.88163588
84MP0004957_abnormal_blastocyst_morpholog0.86670438
85MP0003828_pulmonary_edema0.86102318
86MP0000313_abnormal_cell_death0.85824890
87MP0005023_abnormal_wound_healing0.81652941
88MP0000350_abnormal_cell_proliferation0.81484664
89MP0002095_abnormal_skin_pigmentation0.79697269
90MP0000371_diluted_coat_color0.79371945
91MP0001915_intracranial_hemorrhage0.76788568
92MP0002998_abnormal_bone_remodeling0.75146680
93MP0005166_decreased_susceptibility_to0.74938012
94MP0002928_abnormal_bile_duct0.71970046
95MP0003690_abnormal_glial_cell0.71595389
96MP0002277_abnormal_respiratory_mucosa0.70173106
97MP0003656_abnormal_erythrocyte_physiolo0.69635320
98MP0009763_increased_sensitivity_to0.68761611
99MP0000604_amyloidosis0.68477611
100MP0002132_abnormal_respiratory_system0.67019992
101MP0000249_abnormal_blood_vessel0.66119272
102MP0009765_abnormal_xenobiotic_induced0.65601833
103MP0008873_increased_physiological_sensi0.65419214
104MP0009764_decreased_sensitivity_to0.61617907
105MP0003453_abnormal_keratinocyte_physiol0.60374663
106MP0005164_abnormal_response_to0.60260986
107MP0005390_skeleton_phenotype0.60074517
108MP0005621_abnormal_cell_physiology0.59187018
109MP0003045_fibrosis0.58094670
110MP0008004_abnormal_stomach_pH0.57951920
111MP0003795_abnormal_bone_structure0.56854109
112MP0001663_abnormal_digestive_system0.55893026
113MP0008961_abnormal_basal_metabolism0.55288551
114MP0000477_abnormal_intestine_morphology0.55287508
115MP0006054_spinal_hemorrhage0.54098259
116MP0000598_abnormal_liver_morphology0.52649883
117MP0008874_decreased_physiological_sensi0.50942131
118MP0003878_abnormal_ear_physiology0.50880222
119MP0005377_hearing/vestibular/ear_phenot0.50880222
120MP0002693_abnormal_pancreas_physiology0.50189304
121MP0000609_abnormal_liver_physiology0.47655810
122MP0009115_abnormal_fat_cell0.46664893
123MP0004130_abnormal_muscle_cell0.45660425
124MP0003091_abnormal_cell_migration0.44220998
125MP0005381_digestive/alimentary_phenotyp0.41403365
126MP0005319_abnormal_enzyme/_coenzyme0.39449209

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)5.15522149
2Recurrent bacterial skin infections (HP:0005406)4.67068793
3Cellulitis (HP:0100658)4.29652403
4Eczematoid dermatitis (HP:0000976)4.22139313
5IgM deficiency (HP:0002850)4.18606180
6Agammaglobulinemia (HP:0004432)4.10094196
7Recurrent viral infections (HP:0004429)4.01991800
8Recurrent fungal infections (HP:0002841)3.84778230
9Colitis (HP:0002583)3.77239707
10Systemic lupus erythematosus (HP:0002725)3.65528152
11Inflammation of the large intestine (HP:0002037)3.53562402
12Meningitis (HP:0001287)3.52765963
13Gastrointestinal infarctions (HP:0005244)3.49985698
14Myositis (HP:0100614)3.49718643
15Gastrointestinal inflammation (HP:0004386)3.47031913
16Elevated erythrocyte sedimentation rate (HP:0003565)3.43502077
17Panhypogammaglobulinemia (HP:0003139)3.36363152
18Chronic otitis media (HP:0000389)3.21043142
19Recurrent skin infections (HP:0001581)3.20246206
20Recurrent bronchitis (HP:0002837)3.17923982
21Thyroiditis (HP:0100646)3.13172837
22Agnosia (HP:0010524)3.10769700
23Abnormal delayed hypersensitivity skin test (HP:0002963)3.08790238
24Abnormality of liposaccharide metabolism (HP:0010968)3.06586221
25Abnormality of glycosphingolipid metabolism (HP:0004343)3.06586221
26Abnormality of glycolipid metabolism (HP:0010969)3.06586221
27Increased IgM level (HP:0003496)3.04861420
28Petechiae (HP:0000967)3.00850749
29Increased cerebral lipofuscin (HP:0011813)2.99095267
30Urticaria (HP:0001025)2.98718990
31Osteomyelitis (HP:0002754)2.96947202
32Abnormality of the fingertips (HP:0001211)2.96587461
33Chronic mucocutaneous candidiasis (HP:0002728)2.95469964
34Recurrent cutaneous fungal infections (HP:0011370)2.95469964
35Chronic obstructive pulmonary disease (HP:0006510)2.95022328
36Obstructive lung disease (HP:0006536)2.95022328
37Prolonged bleeding time (HP:0003010)2.93538451
38Mediastinal lymphadenopathy (HP:0100721)2.92512167
39Keratoconjunctivitis sicca (HP:0001097)2.92467305
40Thrombocytosis (HP:0001894)2.92448106
41Spontaneous hematomas (HP:0007420)2.90710296
42Verrucae (HP:0200043)2.87371024
43Papilloma (HP:0012740)2.87371024
44Autoimmune hemolytic anemia (HP:0001890)2.86314232
45Abnormality of macrophages (HP:0004311)2.83925206
46Recurrent gram-negative bacterial infections (HP:0005420)2.83231955
47Hemoptysis (HP:0002105)2.78262178
48Glomerulonephritis (HP:0000099)2.77975338
49Vasculitis (HP:0002633)2.76257713
50Increased neuronal autofluorescent lipopigment (HP:0002074)2.74546141
51Keratoconjunctivitis (HP:0001096)2.72901065
52Hematochezia (HP:0002573)2.66311525
53Hypergammaglobulinemia (HP:0010702)2.63227114
54Hypochromic anemia (HP:0001931)2.62494971
55Abnormal platelet function (HP:0011869)2.62448105
56Impaired platelet aggregation (HP:0003540)2.62448105
57Viral hepatitis (HP:0006562)2.61203263
58Pustule (HP:0200039)2.60962157
59Autoimmune thrombocytopenia (HP:0001973)2.60434795
60B lymphocytopenia (HP:0010976)2.59581394
61Abnormality of B cell number (HP:0010975)2.59581394
62Orchitis (HP:0100796)2.57452491
63Abnormality of T cells (HP:0002843)2.55379314
64Eosinophilia (HP:0001880)2.53803861
65Abnormality of T cell physiology (HP:0011840)2.53677525
66Leukocytosis (HP:0001974)2.49646894
67Lymphopenia (HP:0001888)2.46532972
68Optic neuritis (HP:0100653)2.46388404
69Retrobulbar optic neuritis (HP:0100654)2.46388404
70Vacuolated lymphocytes (HP:0001922)2.45205543
71Gastrointestinal stroma tumor (HP:0100723)2.44003803
72Pulmonary embolism (HP:0002204)2.42924390
73Recurrent pneumonia (HP:0006532)2.42499288
74T lymphocytopenia (HP:0005403)2.42498145
75Abnormality of cells of the lymphoid lineage (HP:0012140)2.40739250
76Nasal polyposis (HP:0100582)2.36708891
77Dysostosis multiplex (HP:0000943)2.34997421
78Granulocytopenia (HP:0001913)2.34494109
79Epistaxis (HP:0000421)2.33724592
80Chronic diarrhea (HP:0002028)2.32493206
81Periodontitis (HP:0000704)2.32135212
82Interstitial pulmonary disease (HP:0006530)2.30017178
83Skin rash (HP:0000988)2.29967670
84Abnormality of T cell number (HP:0011839)2.29727182
85Disinhibition (HP:0000734)2.28024071
86Gingivitis (HP:0000230)2.25443624
87Lymphoma (HP:0002665)2.25046310
88Microcytic anemia (HP:0001935)2.23041240
89Arterial thrombosis (HP:0004420)2.22753941
90Recurrent lower respiratory tract infections (HP:0002783)2.22316418
91Hypochromic microcytic anemia (HP:0004840)2.22312016
92Abnormality of eosinophils (HP:0001879)2.22179117
93Abnormality of the pleura (HP:0002103)2.20426002
94Abnormality of the nasal mucosa (HP:0000433)2.18258214
95Recurrent sinusitis (HP:0011108)2.17438179
96Sepsis (HP:0100806)2.15909927
97IgA deficiency (HP:0002720)2.15687153
98Encephalitis (HP:0002383)2.14336003
99Purpura (HP:0000979)2.13666291
100Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.13588970
101Pulmonary infiltrates (HP:0002113)2.12406346
102Combined immunodeficiency (HP:0005387)2.12297808
103Anorexia (HP:0002039)2.09370124
104Episodic fever (HP:0001954)2.08765191
105Abnormality of the prostate (HP:0008775)2.08040462
106Increased IgE level (HP:0003212)2.07052709
107Leukopenia (HP:0001882)2.06103519
108Chest pain (HP:0100749)2.05847935
109IgG deficiency (HP:0004315)2.05718135
110Gangrene (HP:0100758)2.05583369
111Stomatitis (HP:0010280)2.05547340
112Gingival bleeding (HP:0000225)2.05055180
113Cerebral aneurysm (HP:0004944)2.04555573
114Severe combined immunodeficiency (HP:0004430)2.04227768
115Restrictive lung disease (HP:0002091)2.03682372
116Skin ulcer (HP:0200042)2.03065598
117Acute hepatic failure (HP:0006554)2.02486591
118Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.02078626
119Slow saccadic eye movements (HP:0000514)1.98425767
120Thoracic kyphosis (HP:0002942)1.97270873
121Hypoplasia of the thymus (HP:0000778)1.97127078
122Increased serum ferritin (HP:0003281)1.96483270
123Abnormality of the peritoneum (HP:0002585)1.95743840
124Emphysema (HP:0002097)1.94279240
125Chronic sinusitis (HP:0011109)1.90418257
126Abnormal platelet volume (HP:0011876)1.89031931

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K14.50684606
2TGFBR23.21132323
3EEF2K2.91820252
4MAP3K102.77825658
5CSF1R2.76988284
6PRPF4B2.66695916
7TYK22.47052916
8STK102.40059537
9BLK2.26229509
10KIT2.17322941
11TXK2.02534111
12BTK1.98367852
13RIPK41.97846735
14ERN11.87199867
15ZAP701.86817877
16CDK121.85875655
17SYK1.82052399
18IRAK41.81550717
19GRK61.75366259
20CLK11.73389095
21TBK11.72423060
22MAP3K141.71944316
23JAK31.63770853
24HCK1.56351170
25IRAK31.56279364
26FES1.52799659
27PKN21.43783596
28IKBKB1.43304915
29SIK21.42397046
30TEC1.41780022
31PIM11.39838874
32ITK1.38130934
33JAK11.37756962
34CSK1.33241840
35IKBKE1.31466668
36MAP2K31.29338132
37LYN1.25655549
38NEK21.23974686
39TAOK31.20693243
40* LCK1.18364285
41FLT31.17412847
42STK41.16270219
43MATK1.15917992
44TSSK61.11925497
45SIK31.10281778
46LRRK21.05086512
47BMPR21.04866810
48PAK41.04357495
49CDK41.00953298
50MAP3K30.99113253
51CAMK1D0.98211234
52SMG10.96416884
53TAOK10.95863484
54EPHB10.93294571
55CHUK0.93190154
56RPS6KB20.92801480
57MAP3K10.92372947
58CDC70.89721860
59MAP3K130.88433033
60PRKCQ0.87109426
61CDK60.87067827
62MARK20.86874917
63RPS6KA40.85813262
64FGFR30.84026520
65JAK20.82780735
66MAPK150.81746500
67PIK3CG0.81575507
68SCYL20.78711229
69MARK30.76675413
70MAP3K80.75019731
71GRK70.72580597
72CDK190.72452696
73CAMK1G0.72021178
74MOS0.71219678
75VRK10.70879588
76PIM20.70662088
77TRPM70.69926707
78MAPKAPK30.69740601
79PRKD20.65758079
80BRD40.65292284
81CDC42BPA0.65204453
82ATR0.65043824
83TRIB30.63668115
84MAP3K70.63115272
85IRAK10.58959607
86YES10.58620074
87RPS6KA60.58300130
88MAPKAPK20.57045217
89MAPK120.56454732
90TAOK20.55790778
91PDPK10.55681199
92NME20.55183469
93MAPK40.54572955
94FYN0.53804012
95PTK60.52488997
96CDK70.51831402
97CDK90.51030454
98RPS6KC10.50693742
99RPS6KL10.50693742
100ALK0.50327458
101PDK10.49894928
102MAPK110.49466865
103MAP2K20.48412569
104MAPK70.47240743
105PASK0.46295483
106TNK20.46094464
107WEE10.45936709
108FGFR40.44989619
109NLK0.44760196
110HIPK20.44552175
111MAP3K60.43496279
112IRAK20.43375928
113NEK90.43084082
114TGFBR10.41552254
115ABL10.40847008
116CAMKK10.40566217
117TTK0.40223841
118KSR20.39479165
119STK110.36437465
120EGFR0.35673759
121TLK10.35094118
122RET0.34411458
123DYRK1B0.33770533
124GRK50.33609571
125KDR0.33544089
126MAP3K50.32666077
127TESK20.32235627
128FGR0.31338514
129SGK30.30884974
130MAP3K110.30718148
131MAP2K60.29323094
132MAPK30.28312095
133PRKCH0.28104658
134MELK0.27691700
135EIF2AK30.26000621
136RPS6KA20.25989655

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.18192756
2* B cell receptor signaling pathway_Homo sapiens_hsa046622.91475923
3Leishmaniasis_Homo sapiens_hsa051402.47434769
4Osteoclast differentiation_Homo sapiens_hsa043802.43963344
5Type I diabetes mellitus_Homo sapiens_hsa049402.34251021
6Antigen processing and presentation_Homo sapiens_hsa046122.22947456
7DNA replication_Homo sapiens_hsa030302.20698585
8NF-kappa B signaling pathway_Homo sapiens_hsa040642.19657436
9Other glycan degradation_Homo sapiens_hsa005112.16769492
10Glycosaminoglycan degradation_Homo sapiens_hsa005312.12289150
11Staphylococcus aureus infection_Homo sapiens_hsa051502.10019436
12Measles_Homo sapiens_hsa051621.92629476
13Hematopoietic cell lineage_Homo sapiens_hsa046401.89947318
14* Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.85058533
15Intestinal immune network for IgA production_Homo sapiens_hsa046721.84044403
16Mismatch repair_Homo sapiens_hsa034301.81525236
17Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.80843138
18Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.72104866
19Base excision repair_Homo sapiens_hsa034101.67559271
20Toll-like receptor signaling pathway_Homo sapiens_hsa046201.65566303
21Herpes simplex infection_Homo sapiens_hsa051681.52126252
22* Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.51791817
23Tuberculosis_Homo sapiens_hsa051521.44525841
24Pertussis_Homo sapiens_hsa051331.44149638
25T cell receptor signaling pathway_Homo sapiens_hsa046601.44025509
26Non-homologous end-joining_Homo sapiens_hsa034501.43901741
27Lysosome_Homo sapiens_hsa041421.43178332
28Legionellosis_Homo sapiens_hsa051341.40612838
29Toxoplasmosis_Homo sapiens_hsa051451.39704315
30Apoptosis_Homo sapiens_hsa042101.37669023
31Chronic myeloid leukemia_Homo sapiens_hsa052201.36177631
32Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.35450169
33NOD-like receptor signaling pathway_Homo sapiens_hsa046211.33527621
34Influenza A_Homo sapiens_hsa051641.31542931
35Jak-STAT signaling pathway_Homo sapiens_hsa046301.30013583
36Acute myeloid leukemia_Homo sapiens_hsa052211.29990573
37Hepatitis B_Homo sapiens_hsa051611.29412100
38Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.29087920
39Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.25208599
40Chemokine signaling pathway_Homo sapiens_hsa040621.24799624
41RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.24271371
42Transcriptional misregulation in cancer_Homo sapiens_hsa052021.21947011
43Homologous recombination_Homo sapiens_hsa034401.21232338
44Shigellosis_Homo sapiens_hsa051311.19813271
45Leukocyte transendothelial migration_Homo sapiens_hsa046701.19137269
46Epstein-Barr virus infection_Homo sapiens_hsa051691.13759283
47Platelet activation_Homo sapiens_hsa046111.11455805
48Pancreatic cancer_Homo sapiens_hsa052121.10838986
49Spliceosome_Homo sapiens_hsa030401.05291834
50Viral carcinogenesis_Homo sapiens_hsa052031.05236852
51Malaria_Homo sapiens_hsa051441.01721052
52Allograft rejection_Homo sapiens_hsa053300.95720136
53Viral myocarditis_Homo sapiens_hsa054160.95186641
54Cell cycle_Homo sapiens_hsa041100.94071341
55Non-small cell lung cancer_Homo sapiens_hsa052230.89875381
56Fanconi anemia pathway_Homo sapiens_hsa034600.89343947
57TNF signaling pathway_Homo sapiens_hsa046680.89271889
58p53 signaling pathway_Homo sapiens_hsa041150.89124345
59HTLV-I infection_Homo sapiens_hsa051660.85988442
60Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.85763299
61Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.85460549
62Asthma_Homo sapiens_hsa053100.85338907
63Neurotrophin signaling pathway_Homo sapiens_hsa047220.84596009
64Salmonella infection_Homo sapiens_hsa051320.82968817
65AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.82391671
66Colorectal cancer_Homo sapiens_hsa052100.82360576
67Nucleotide excision repair_Homo sapiens_hsa034200.81166104
68Carbohydrate digestion and absorption_Homo sapiens_hsa049730.80882613
69Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.80549365
70Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.80049091
71Ribosome_Homo sapiens_hsa030100.79192611
72Notch signaling pathway_Homo sapiens_hsa043300.76398725
73Graft-versus-host disease_Homo sapiens_hsa053320.76369582
74Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.76112457
75Systemic lupus erythematosus_Homo sapiens_hsa053220.75454505
76Small cell lung cancer_Homo sapiens_hsa052220.73229001
77Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.70424607
78One carbon pool by folate_Homo sapiens_hsa006700.67510487
79Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.67448093
80RNA transport_Homo sapiens_hsa030130.65847032
81VEGF signaling pathway_Homo sapiens_hsa043700.61109896
82Hepatitis C_Homo sapiens_hsa051600.60417150
83Endocytosis_Homo sapiens_hsa041440.59047231
84SNARE interactions in vesicular transport_Homo sapiens_hsa041300.57338815
85Phospholipase D signaling pathway_Homo sapiens_hsa040720.56622769
86MicroRNAs in cancer_Homo sapiens_hsa052060.55960790
87Renal cell carcinoma_Homo sapiens_hsa052110.53561876
88mTOR signaling pathway_Homo sapiens_hsa041500.51568971
89Choline metabolism in cancer_Homo sapiens_hsa052310.50192753
90Regulation of actin cytoskeleton_Homo sapiens_hsa048100.49401397
91Phagosome_Homo sapiens_hsa041450.49313875
92HIF-1 signaling pathway_Homo sapiens_hsa040660.46056255
93RNA degradation_Homo sapiens_hsa030180.46037650
94Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.45292482
95FoxO signaling pathway_Homo sapiens_hsa040680.44462776
96Dorso-ventral axis formation_Homo sapiens_hsa043200.43239833
97mRNA surveillance pathway_Homo sapiens_hsa030150.42973781
98Prolactin signaling pathway_Homo sapiens_hsa049170.42706828
99African trypanosomiasis_Homo sapiens_hsa051430.42705478
100Glycerophospholipid metabolism_Homo sapiens_hsa005640.42581485
101Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.42318902
102Autoimmune thyroid disease_Homo sapiens_hsa053200.41835691
103Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.41555343
104Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.41397298
105Renin-angiotensin system_Homo sapiens_hsa046140.40532863
106Adipocytokine signaling pathway_Homo sapiens_hsa049200.39930151
107Pentose phosphate pathway_Homo sapiens_hsa000300.39055501
108Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.38530845
109Insulin resistance_Homo sapiens_hsa049310.38205162
110Endometrial cancer_Homo sapiens_hsa052130.38113463
111MAPK signaling pathway_Homo sapiens_hsa040100.36604700
112Sphingolipid signaling pathway_Homo sapiens_hsa040710.36457734
113GnRH signaling pathway_Homo sapiens_hsa049120.35134155
114Lysine degradation_Homo sapiens_hsa003100.35076413
115Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.34830856
116Pyrimidine metabolism_Homo sapiens_hsa002400.34754241
117* Phosphatidylinositol signaling system_Homo sapiens_hsa040700.34033733
118* Inositol phosphate metabolism_Homo sapiens_hsa005620.32999804
119Rheumatoid arthritis_Homo sapiens_hsa053230.32395503
120Prostate cancer_Homo sapiens_hsa052150.27021163
121Type II diabetes mellitus_Homo sapiens_hsa049300.26146400
122Amoebiasis_Homo sapiens_hsa051460.26021652
123Regulation of autophagy_Homo sapiens_hsa041400.25302352
124ErbB signaling pathway_Homo sapiens_hsa040120.23064472
125Rap1 signaling pathway_Homo sapiens_hsa040150.19555701
126Glioma_Homo sapiens_hsa052140.19110198
127Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.18858875

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