MMP8

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 matrix metalloproteinase (MMP) family of proteins. These proteins are involved in the breakdown of extracellular matrix in embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Proteolysis at different sites on this protein results in multiple active forms of the enzyme with distinct N-termini. This protein functions in the degradation of type I, II and III collagens. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1innate immune response in mucosa (GO:0002227)8.72249806
2antibacterial humoral response (GO:0019731)8.22664842
3cellular extravasation (GO:0045123)7.87687900
4neutrophil activation involved in immune response (GO:0002283)7.76043389
5antimicrobial humoral response (GO:0019730)7.66658103
6mucosal immune response (GO:0002385)7.29475121
7neutrophil mediated immunity (GO:0002446)7.11618012
8organ or tissue specific immune response (GO:0002251)6.93839939
9leukocyte aggregation (GO:0070486)6.82619468
10response to peptidoglycan (GO:0032494)6.67975506
11respiratory burst (GO:0045730)6.41531655
12neutrophil activation (GO:0042119)6.24354142
13positive regulation of mast cell activation (GO:0033005)6.19450394
14granulocyte activation (GO:0036230)5.95318738
15macrophage differentiation (GO:0030225)5.71960922
16production of molecular mediator involved in inflammatory response (GO:0002532)5.56822469
17detection of other organism (GO:0098543)5.48323300
18myeloid leukocyte mediated immunity (GO:0002444)5.43195869
19neutrophil chemotaxis (GO:0030593)5.42920387
20regulation of B cell receptor signaling pathway (GO:0050855)5.41877460
21response to host immune response (GO:0052572)5.31004523
22response to immune response of other organism involved in symbiotic interaction (GO:0052564)5.31004523
23neutrophil migration (GO:1990266)5.28667929
24detection of bacterium (GO:0016045)5.27649411
25defense response to fungus (GO:0050832)5.21124696
26positive regulation by symbiont of host defense response (GO:0052509)5.19343352
27modulation by symbiont of host defense response (GO:0052031)5.19343352
28modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.19343352
29modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.19343352
30positive regulation by organism of defense response of other organism involved in symbiotic interact5.19343352
31modulation by symbiont of host immune response (GO:0052553)5.19343352
32regulation of mast cell activation (GO:0033003)5.09563493
33leukocyte migration involved in inflammatory response (GO:0002523)5.06718285
34disruption of cells of other organism involved in symbiotic interaction (GO:0051818)5.04994289
35killing of cells in other organism involved in symbiotic interaction (GO:0051883)5.04994289
36response to fungus (GO:0009620)4.89970337
37response to defenses of other organism involved in symbiotic interaction (GO:0052173)4.83643470
38response to host (GO:0075136)4.83643470
39response to host defenses (GO:0052200)4.83643470
40oxygen transport (GO:0015671)4.82817454
41cell killing (GO:0001906)4.73856890
42protoporphyrinogen IX metabolic process (GO:0046501)4.70710649
43regulation of myeloid leukocyte mediated immunity (GO:0002886)4.69420693
44negative regulation of interleukin-8 production (GO:0032717)4.68382413
45superoxide anion generation (GO:0042554)4.65338042
46positive regulation of mast cell degranulation (GO:0043306)4.62655037
47positive regulation of mast cell activation involved in immune response (GO:0033008)4.62655037
48granulocyte chemotaxis (GO:0071621)4.61692054
49protoporphyrinogen IX biosynthetic process (GO:0006782)4.53832580
50regulation of leukocyte degranulation (GO:0043300)4.49968734
51granulocyte migration (GO:0097530)4.49889685
52reactive oxygen species biosynthetic process (GO:1903409)4.47533347
53hydrogen peroxide biosynthetic process (GO:0050665)4.46581522
54regulation of mast cell degranulation (GO:0043304)4.40313878
55intracellular estrogen receptor signaling pathway (GO:0030520)4.20765273
56regulation of mast cell activation involved in immune response (GO:0033006)4.11836241
57negative regulation of mast cell activation (GO:0033004)4.08679394
58negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)4.08372498
59regulation of regulated secretory pathway (GO:1903305)4.00736312
60gas transport (GO:0015669)4.00262912
61hemoglobin metabolic process (GO:0020027)3.98291085
62immunoglobulin mediated immune response (GO:0016064)3.95347839
63phagosome maturation (GO:0090382)3.94695516
64negative regulation of phagocytosis (GO:0050765)3.91049843
65citrulline biosynthetic process (GO:0019240)3.89751394
66regulation of receptor binding (GO:1900120)3.89610917
67positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.87714254
68macrophage activation involved in immune response (GO:0002281)3.83861546
69defense response to bacterium (GO:0042742)3.82646454
70negative regulation of interleukin-6 production (GO:0032715)3.81378740
71dendritic cell chemotaxis (GO:0002407)3.80276980
72mast cell activation (GO:0045576)3.77185951
73positive regulation of myeloid leukocyte mediated immunity (GO:0002888)3.75470578
74positive regulation of toll-like receptor signaling pathway (GO:0034123)3.75267366
75detection of external biotic stimulus (GO:0098581)3.74721534
76Arp2/3 complex-mediated actin nucleation (GO:0034314)3.74149275
77negative regulation of erythrocyte differentiation (GO:0045647)3.72422275
78disruption of cells of other organism (GO:0044364)3.71953366
79killing of cells of other organism (GO:0031640)3.71953366
80positive regulation of monocyte chemotaxis (GO:0090026)3.71203136
81myeloid cell activation involved in immune response (GO:0002275)3.69464422
82negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.68660672
83negative regulation of cell killing (GO:0031342)3.68660672
84diterpenoid biosynthetic process (GO:0016102)3.68015975
85regulation of interleukin-8 biosynthetic process (GO:0045414)3.66581043
86chronic inflammatory response (GO:0002544)3.64960878
87leukocyte degranulation (GO:0043299)3.64168101
88dendritic cell migration (GO:0036336)3.61894239
89natural killer cell activation involved in immune response (GO:0002323)3.60451124
90leukocyte mediated cytotoxicity (GO:0001909)3.55425508
91positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.43229824
92positive regulation of leukocyte degranulation (GO:0043302)3.42774838
93response to bacterium (GO:0009617)3.42768897
94positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.41323105
95sequestering of metal ion (GO:0051238)3.38512328
96negative regulation of tumor necrosis factor superfamily cytokine production (GO:1903556)3.37672743
97regulation of natural killer cell differentiation (GO:0032823)3.36027361
98myeloid cell development (GO:0061515)3.35964168
99myeloid leukocyte migration (GO:0097529)3.26387785
100lipopolysaccharide-mediated signaling pathway (GO:0031663)3.25320566
101response to methylmercury (GO:0051597)3.23478279
102leukocyte cell-cell adhesion (GO:0007159)3.22595350
103positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.19577922
104regulation of monocyte chemotaxis (GO:0090025)3.17992391
105detection of biotic stimulus (GO:0009595)3.17015282
106modulation of growth of symbiont involved in interaction with host (GO:0044144)3.15803100
107regulation of growth of symbiont in host (GO:0044126)3.15803100
108negative regulation of growth of symbiont in host (GO:0044130)3.15803100
109negative regulation of growth of symbiont involved in interaction with host (GO:0044146)3.15803100
110pentose-phosphate shunt (GO:0006098)3.15172843
111defense response to Gram-positive bacterium (GO:0050830)3.14380903
112leukocyte chemotaxis (GO:0030595)3.13915113
113positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.12753022
114porphyrin-containing compound biosynthetic process (GO:0006779)3.11877636
115regulation of B cell differentiation (GO:0045577)3.09990877
116erythrocyte development (GO:0048821)3.09578184
117leukotriene metabolic process (GO:0006691)3.09414289
118microglial cell activation (GO:0001774)3.08720461
119regulation of T-helper 2 cell differentiation (GO:0045628)3.07172442
120positive regulation of B cell differentiation (GO:0045579)3.04492941
121regulation of toll-like receptor 4 signaling pathway (GO:0034143)3.04156273
122negative regulation of myeloid cell apoptotic process (GO:0033033)3.03260342
123activated T cell proliferation (GO:0050798)3.01294816
124T-helper 1 type immune response (GO:0042088)2.99661057
125positive regulation of gamma-delta T cell activation (GO:0046645)2.98458716
126regulation of gamma-delta T cell activation (GO:0046643)2.96744941
127NADPH regeneration (GO:0006740)2.95933321
128regulation of interferon-beta biosynthetic process (GO:0045357)2.95470477
129positive regulation of lamellipodium assembly (GO:0010592)2.95185867
130B cell mediated immunity (GO:0019724)2.94954478
131monocyte chemotaxis (GO:0002548)2.94414119
132macrophage activation (GO:0042116)2.93116494
133response to muramyl dipeptide (GO:0032495)2.92650136
134positive regulation of regulated secretory pathway (GO:1903307)2.91811473
135detection of molecule of bacterial origin (GO:0032490)2.89146567
136defense response to protozoan (GO:0042832)2.84090207
137negative regulation of interleukin-12 production (GO:0032695)2.83966279

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.21416679
2IRF8_21731497_ChIP-ChIP_J774_Mouse6.53140634
3MYB_21317192_ChIP-Seq_ERMYB_Mouse4.94696466
4MECOM_23826213_ChIP-Seq_KASUMI_Mouse4.44414273
5SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse4.15681844
6* IRF8_27001747_Chip-Seq_BMDM_Mouse3.98489273
7* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.81607074
8STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.73985795
9GATA1_22025678_ChIP-Seq_K562_Human3.65835485
10IRF8_22096565_ChIP-ChIP_GC-B_Human3.45538032
11Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse3.40475035
12BRD4_27068464_Chip-Seq_AML-cells_Mouse3.33046205
13EGR1_19374776_ChIP-ChIP_THP-1_Human3.14039312
14NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human3.09221022
15FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.90677023
16RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.83439064
17STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.80263320
18SPI1_23547873_ChIP-Seq_NB4_Human2.72385154
19SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.36813042
20RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.25632817
21IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.19240848
22STAT4_19710469_ChIP-ChIP_TH1__Mouse2.19183058
23RUNX1_22412390_ChIP-Seq_EML_Mouse2.12047004
24CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.11943046
25STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.09046965
26SCL_19346495_ChIP-Seq_HPC-7_Human2.04581117
27SPI1_23127762_ChIP-Seq_K562_Human2.03472927
28MYB_26560356_Chip-Seq_TH2_Human2.02013873
29VDR_24763502_ChIP-Seq_THP-1_Human1.97465907
30IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.97360567
31FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.97014723
32LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.91398598
33PU_27001747_Chip-Seq_BMDM_Mouse1.87776848
34RUNX_20019798_ChIP-Seq_JUKART_Human1.78949030
35MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.78399587
36VDR_21846776_ChIP-Seq_THP-1_Human1.76917457
37STAT6_21828071_ChIP-Seq_BEAS2B_Human1.74820263
38VDR_24787735_ChIP-Seq_THP-1_Human1.74602382
39PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.74165166
40* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.73540595
41UTX_26944678_Chip-Seq_JUKART_Human1.68712181
42MAF_26560356_Chip-Seq_TH1_Human1.66883070
43* CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.64159348
44MYC_22102868_ChIP-Seq_BL_Human1.53735823
45* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.52056689
46NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.51694355
47PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.50789052
48MYB_26560356_Chip-Seq_TH1_Human1.48131240
49E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.45811298
50FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.42107527
51STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.41793206
52* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.41687638
53VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.39087545
54SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.37892627
55EGR1_19032775_ChIP-ChIP_M12_Human1.37303535
56GATA2_22383799_ChIP-Seq_G1ME_Mouse1.36687291
57PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.35512670
58* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.34827753
59GATA3_27048872_Chip-Seq_THYMUS_Human1.34191920
60GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.33035955
61KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.30477831
62LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.29173336
63GATA2_21666600_ChIP-Seq_HMVEC_Human1.27196905
64* GATA3_26560356_Chip-Seq_TH2_Human1.25464451
65TCF7_22412390_ChIP-Seq_EML_Mouse1.24707575
66ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.24449157
67* GATA1_19941827_ChIP-Seq_MEL_Mouse1.22570738
68BCOR_27268052_Chip-Seq_Bcells_Human1.21081480
69ELF1_17652178_ChIP-ChIP_JURKAT_Human1.15697772
70MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.14780806
71* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.13160462
72NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.10489953
73GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.10467380
74GATA2_19941826_ChIP-Seq_K562_Human1.09218812
75NCOR1_26117541_ChIP-Seq_K562_Human1.08444663
76SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.06571617
77SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.06377082
78SMAD_19615063_ChIP-ChIP_OVARY_Human1.05365617
79PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.04999769
80CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.04540376
81TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.03318617
82RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.01662195
83SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00258501
84TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.99370107
85TFEB_21752829_ChIP-Seq_HELA_Human0.97890185
86TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.97440828
87GATA1_22383799_ChIP-Seq_G1ME_Mouse0.97273839
88KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.95771138
89* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95323926
90GATA1_19941826_ChIP-Seq_K562_Human0.94627088
91KDM2B_26808549_Chip-Seq_SUP-B15_Human0.93856795
92BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.90738364
93SPI1_20517297_ChIP-Seq_HL60_Human0.90008027
94GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.89957742
95HOXB4_20404135_ChIP-ChIP_EML_Mouse0.89566307
96KDM2B_26808549_Chip-Seq_DND41_Human0.87707466
97MAF_26560356_Chip-Seq_TH2_Human0.87000762
98LXR_22292898_ChIP-Seq_THP-1_Human0.86001346
99THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.85652253
100IKZF1_21737484_ChIP-ChIP_HCT116_Human0.85295385
101FOXM1_23109430_ChIP-Seq_U2OS_Human0.84549976
102CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.84041563
103CTCF_27219007_Chip-Seq_ERYTHROID_Human0.83788795
104ELK3_25401928_ChIP-Seq_HUVEC_Human0.82617150
105GATA1_19941827_ChIP-Seq_MEL86_Mouse0.82371798
106BCL6_27268052_Chip-Seq_Bcells_Human0.78235426
107TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.73368494
108SMRT_27268052_Chip-Seq_Bcells_Human0.73062458
109JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.69327249
110CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.68008174
111* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.66426624
112PU.1_20513432_ChIP-Seq_Bcells_Mouse0.66261044
113KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.65948580
114RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.65827991
115SOX2_20726797_ChIP-Seq_SW620_Human0.63863130
116NRF2_20460467_ChIP-Seq_MEFs_Mouse0.63208465
117NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.63208465
118TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.63123856
119P63_26484246_Chip-Seq_KERATINOCYTES_Human0.61485460

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003436_decreased_susceptibility_to5.30560176
2MP0002837_dystrophic_cardiac_calcinosis4.65677415
3MP0009278_abnormal_bone_marrow4.54807497
4MP0003303_peritoneal_inflammation4.26484934
5MP0009785_altered_susceptibility_to3.92650581
6MP0005167_abnormal_blood-brain_barrier3.51912791
7MP0002419_abnormal_innate_immunity3.46779935
8MP0004147_increased_porphyrin_level3.04483660
9MP0002148_abnormal_hypersensitivity_rea2.99145527
10MP0001853_heart_inflammation2.96223044
11MP0003724_increased_susceptibility_to2.85789825
12MP0001835_abnormal_antigen_presentation2.82153626
13MP0000343_altered_response_to2.65526011
14* MP0005025_abnormal_response_to2.61093599
15MP0003075_altered_response_to2.59918360
16MP0005000_abnormal_immune_tolerance2.59027803
17MP0001533_abnormal_skeleton_physiology2.56996314
18MP0009764_decreased_sensitivity_to2.56149767
19MP0005397_hematopoietic_system_phenotyp2.42746797
20MP0001545_abnormal_hematopoietic_system2.42746797
21MP0000858_altered_metastatic_potential2.32553784
22MP0003183_abnormal_peptide_metabolism2.20103494
23MP0004883_abnormal_blood_vessel2.16321614
24MP0002452_abnormal_antigen_presenting2.12789355
25MP0002405_respiratory_system_inflammati2.02704949
26MP0001819_abnormal_immune_cell1.97803279
27MP0001800_abnormal_humoral_immune1.97229335
28MP0002420_abnormal_adaptive_immunity1.95620603
29MP0003279_aneurysm1.92062924
30MP0005464_abnormal_platelet_physiology1.91492646
31MP0002723_abnormal_immune_serum1.90218418
32MP0005166_decreased_susceptibility_to1.88295235
33MP0002933_joint_inflammation1.81682469
34MP0000685_abnormal_immune_system1.81649086
35MP0003448_altered_tumor_morphology1.81262551
36MP0003828_pulmonary_edema1.79418681
37MP0006082_CNS_inflammation1.76787697
38MP0005387_immune_system_phenotype1.70212204
39MP0001790_abnormal_immune_system1.70212204
40* MP0001845_abnormal_inflammatory_respons1.70022645
41MP0005164_abnormal_response_to1.61701600
42MP0005058_abnormal_lysosome_morphology1.55458370
43MP0002277_abnormal_respiratory_mucosa1.54649952
44MP0003191_abnormal_cellular_cholesterol1.52450081
45MP0010155_abnormal_intestine_physiology1.50317514
46MP0005671_abnormal_response_to1.47804759
47MP0005083_abnormal_biliary_tract1.42074568
48MP0008260_abnormal_autophagy1.40984010
49MP0002138_abnormal_hepatobiliary_system1.40631116
50MP0004808_abnormal_hematopoietic_stem1.36946031
51MP0008469_abnormal_protein_level1.34925956
52MP0009840_abnormal_foam_cell1.34892349
53MP0003300_gastrointestinal_ulcer1.34366060
54MP0000716_abnormal_immune_system1.30972530
55MP0002396_abnormal_hematopoietic_system1.29654106
56MP0004510_myositis1.29246660
57MP0005023_abnormal_wound_healing1.28812686
58MP0004947_skin_inflammation1.26148228
59MP0002398_abnormal_bone_marrow1.22174346
60MP0003045_fibrosis1.22081889
61MP0003453_abnormal_keratinocyte_physiol1.21856950
62MP0000920_abnormal_myelination1.19325731
63MP0001851_eye_inflammation1.17266041
64MP0003172_abnormal_lysosome_physiology1.16673075
65MP0003656_abnormal_erythrocyte_physiolo1.16182939
66MP0005390_skeleton_phenotype1.16039043
67MP0000015_abnormal_ear_pigmentation1.15054558
68MP0005076_abnormal_cell_differentiation1.14848252
69MP0002006_tumorigenesis1.12447751
70MP0002429_abnormal_blood_cell1.04948376
71MP0002009_preneoplasia1.04448541
72MP0003763_abnormal_thymus_physiology0.99744971
73MP0000703_abnormal_thymus_morphology0.99423829
74MP0002877_abnormal_melanocyte_morpholog0.98451506
75MP0000689_abnormal_spleen_morphology0.97482664
76MP0000569_abnormal_digit_pigmentation0.94119873
77MP0002166_altered_tumor_susceptibility0.93637834
78MP0003638_abnormal_response/metabolism_0.91301675
79MP0000465_gastrointestinal_hemorrhage0.90552670
80MP0001764_abnormal_homeostasis0.89510093
81MP0000604_amyloidosis0.87951420
82MP0002722_abnormal_immune_system0.86053553
83MP0005174_abnormal_tail_pigmentation0.85903304
84MP0009763_increased_sensitivity_to0.85540500
85MP0009333_abnormal_splenocyte_physiolog0.84918891
86MP0005451_abnormal_body_composition0.83200009
87MP0003690_abnormal_glial_cell0.82997524
88MP0004381_abnormal_hair_follicle0.81015064
89MP0009765_abnormal_xenobiotic_induced0.79804713
90MP0002095_abnormal_skin_pigmentation0.79111257
91MP0003566_abnormal_cell_adhesion0.78307812
92MP0003221_abnormal_cardiomyocyte_apopto0.77651263
93MP0005075_abnormal_melanosome_morpholog0.75864780
94MP0002132_abnormal_respiratory_system0.75373704
95MP0000609_abnormal_liver_physiology0.74927911
96MP0000249_abnormal_blood_vessel0.67739229
97MP0003950_abnormal_plasma_membrane0.66628730
98MP0002133_abnormal_respiratory_system0.65633736
99MP0005388_respiratory_system_phenotype0.65633736
100MP0003806_abnormal_nucleotide_metabolis0.65462039
101MP0001958_emphysema0.65220375
102MP0002998_abnormal_bone_remodeling0.64643917
103MP0005319_abnormal_enzyme/_coenzyme0.62480339
104MP0003091_abnormal_cell_migration0.62353563
105MP0003186_abnormal_redox_activity0.61978124
106MP0008004_abnormal_stomach_pH0.61263461
107MP0001663_abnormal_digestive_system0.61082827
108MP0003795_abnormal_bone_structure0.60440507
109MP0008874_decreased_physiological_sensi0.60262121
110MP0009115_abnormal_fat_cell0.59150175
111MP0005310_abnormal_salivary_gland0.58976311
112MP0005636_abnormal_mineral_homeostasis0.58470560
113MP0009931_abnormal_skin_appearance0.57597282
114MP0006072_abnormal_retinal_apoptosis0.55497373
115MP0003633_abnormal_nervous_system0.54900025
116MP0005595_abnormal_vascular_smooth0.54820331
117MP0000490_abnormal_crypts_of0.51686084
118MP0001191_abnormal_skin_condition0.50963704
119MP0004782_abnormal_surfactant_physiolog0.48246230
120MP0003329_amyloid_beta_deposits0.47735412
121MP0003866_abnormal_defecation0.45400618
122MP0005376_homeostasis/metabolism_phenot0.44124272

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)9.87806929
2Eczematoid dermatitis (HP:0000976)9.19552026
3Recurrent gram-negative bacterial infections (HP:0005420)8.92649075
4Recurrent bacterial skin infections (HP:0005406)8.32861688
5Hypochromic microcytic anemia (HP:0004840)7.51534569
6Abnormality of the heme biosynthetic pathway (HP:0010472)7.01761668
7Abnormality of macrophages (HP:0004311)6.76232487
8Stomatitis (HP:0010280)6.17958318
9Chronic obstructive pulmonary disease (HP:0006510)6.01109661
10Obstructive lung disease (HP:0006536)6.01109661
11Mediastinal lymphadenopathy (HP:0100721)5.92248506
12Gingivitis (HP:0000230)5.80771215
13Recurrent skin infections (HP:0001581)4.91364108
14Hypochromic anemia (HP:0001931)4.60072310
15Urticaria (HP:0001025)4.56094726
16Myositis (HP:0100614)4.44505425
17Recurrent fungal infections (HP:0002841)4.41085927
18Poikilocytosis (HP:0004447)4.30296235
19Spontaneous hematomas (HP:0007420)4.07592996
20Cellulitis (HP:0100658)4.05294159
21Microcytic anemia (HP:0001935)3.95237118
22Orchitis (HP:0100796)3.92293447
23Vacuolated lymphocytes (HP:0001922)3.68323768
24Polycythemia (HP:0001901)3.65298132
25Hepatosplenomegaly (HP:0001433)3.55665842
26Meningitis (HP:0001287)3.49661079
27Metaphyseal irregularity (HP:0003025)3.37097965
28Periodontitis (HP:0000704)3.35593452
29Increased neuronal autofluorescent lipopigment (HP:0002074)3.34201346
30Increased cerebral lipofuscin (HP:0011813)3.32400417
31Elevated erythrocyte sedimentation rate (HP:0003565)3.29161296
32Gastrointestinal infarctions (HP:0005244)3.26862950
33Paralysis (HP:0003470)3.21476908
34Toxemia of pregnancy (HP:0100603)3.14262365
35Short femoral neck (HP:0100864)3.11504678
36Retrobulbar optic neuritis (HP:0100654)3.09706063
37Optic neuritis (HP:0100653)3.09706063
38Interstitial pulmonary disease (HP:0006530)3.06811646
39Abnormal hemoglobin (HP:0011902)2.95924798
40Chronic mucocutaneous candidiasis (HP:0002728)2.89129330
41Recurrent cutaneous fungal infections (HP:0011370)2.89129330
42Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)2.76175955
43Pustule (HP:0200039)2.75067642
44Systemic lupus erythematosus (HP:0002725)2.73068394
45Cholelithiasis (HP:0001081)2.68123653
46Sepsis (HP:0100806)2.66350392
47Keratoconjunctivitis sicca (HP:0001097)2.65939655
48Vasculitis (HP:0002633)2.65322689
49Petechiae (HP:0000967)2.65124210
50Anorexia (HP:0002039)2.64090663
51Recurrent pneumonia (HP:0006532)2.63793912
52Osteomyelitis (HP:0002754)2.62864619
53Gingival bleeding (HP:0000225)2.59679264
54Thickened calvaria (HP:0002684)2.58995253
55Abnormality of iron homeostasis (HP:0011031)2.49822449
56Leukocytosis (HP:0001974)2.48189035
57Hemoptysis (HP:0002105)2.47694465
58Hematochezia (HP:0002573)2.47455780
59Abnormal platelet volume (HP:0011876)2.46527153
60Axonal loss (HP:0003447)2.44307230
61Disinhibition (HP:0000734)2.42280658
62Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.42091080
63Keratoconjunctivitis (HP:0001096)2.38437538
64Abnormal gallbladder morphology (HP:0012437)2.35706942
65Autoimmune thrombocytopenia (HP:0001973)2.34785274
66Recurrent viral infections (HP:0004429)2.30914383
67Skin ulcer (HP:0200042)2.30447337
68Abnormal delayed hypersensitivity skin test (HP:0002963)2.30373705
69Epistaxis (HP:0000421)2.29836564
70Cheilitis (HP:0100825)2.29543067
71Reticulocytosis (HP:0001923)2.26836800
72Aplasia/hypoplasia of the femur (HP:0005613)2.26753963
73Joint hemorrhage (HP:0005261)2.25242064
74Difficulty running (HP:0009046)2.23170971
75Diaphragmatic weakness (HP:0009113)2.23015171
76Pulmonary infiltrates (HP:0002113)2.21667977
77Increased serum ferritin (HP:0003281)2.20885347
78Abnormality of the common coagulation pathway (HP:0010990)2.18418981
79Recurrent lower respiratory tract infections (HP:0002783)2.18222699
80Pulmonary embolism (HP:0002204)2.13842413
81Abnormality of pyrimidine metabolism (HP:0004353)2.13559998
82Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.13418851
83Inflammation of the large intestine (HP:0002037)2.08462371
84Impaired platelet aggregation (HP:0003540)2.07122912
85Abnormal platelet function (HP:0011869)2.07122912
86Muscle fiber splitting (HP:0003555)2.06144295
87Encephalitis (HP:0002383)2.05014987
88Hypermelanotic macule (HP:0001034)2.03697626
89Arterial thrombosis (HP:0004420)2.03571594
90Abnormality of transition element cation homeostasis (HP:0011030)2.00839072
91Abnormality of the fingertips (HP:0001211)2.00388192
92Chest pain (HP:0100749)2.00336204
93Peritonitis (HP:0002586)1.99876206
94Prolonged bleeding time (HP:0003010)1.99407365
95Increased IgM level (HP:0003496)1.98792948
96Dysostosis multiplex (HP:0000943)1.98327654
97IgM deficiency (HP:0002850)1.97454325
98Slow saccadic eye movements (HP:0000514)1.97445231
99Episodic fever (HP:0001954)1.97216427
100Gastrointestinal inflammation (HP:0004386)1.96042009
101Basal ganglia calcification (HP:0002135)1.95663057
102Chronic otitis media (HP:0000389)1.94684530
103Menorrhagia (HP:0000132)1.93078665
104Thrombophlebitis (HP:0004418)1.92200502
105Thyroiditis (HP:0100646)1.91134233
106Increased mean platelet volume (HP:0011877)1.90159409
107Abnormality of T cell physiology (HP:0011840)1.90137803
108Eosinophilia (HP:0001880)1.89574275
109Metaphyseal cupping (HP:0003021)1.88193939
110Skin rash (HP:0000988)1.87290974
111Splenomegaly (HP:0001744)1.86920430
112Abnormality of the pleura (HP:0002103)1.84930559
113Acanthocytosis (HP:0001927)1.84830377
114Purpura (HP:0000979)1.84428797
115Loss of speech (HP:0002371)1.83819515
116Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.83327445
117Fatigue (HP:0012378)1.81581486
118Amyloidosis (HP:0011034)1.81101687
119Papilledema (HP:0001085)1.80870481
120Agnosia (HP:0010524)1.79820872
121Increased connective tissue (HP:0009025)1.79378533
122Cutaneous photosensitivity (HP:0000992)1.76124012
123Increased IgE level (HP:0003212)1.70571455
124Granulocytopenia (HP:0001913)1.64556823
125Abnormality of the endocardium (HP:0004306)1.64464784
126Hypergammaglobulinemia (HP:0010702)1.62306794
127Poor head control (HP:0002421)1.61920753
128Lower limb hyperreflexia (HP:0002395)1.60787300
129Prostate neoplasm (HP:0100787)1.59085394
130Progressive visual loss (HP:0000529)1.58069589
131Abnormality of liposaccharide metabolism (HP:0010968)1.57654621
132Abnormality of glycosphingolipid metabolism (HP:0004343)1.57654621
133Abnormality of glycolipid metabolism (HP:0010969)1.57654621

Predicted kinase interactions (KEA)

RankGene SetZ-score
1IRAK44.17494625
2BLK3.99273698
3RIPK43.92483027
4PRPF4B3.59362504
5TEC3.36611477
6EPHB13.21405628
7BTK3.05824814
8ERBB32.85372700
9FGR2.85104457
10TRPM72.81833430
11CSK2.81358708
12ERN12.70565354
13MAP2K32.68182856
14MAP3K62.63361535
15MAP3K122.43892833
16STK102.22421057
17ITK2.13755863
18HCK2.11281434
19CLK11.97572551
20FES1.94522523
21TAOK21.81077287
22MAP4K11.77286180
23GRK61.72643799
24MAP3K31.64161737
25TRIB31.48291185
26MAP3K141.47250749
27PTK21.46178569
28KSR21.44230757
29TYK21.42810949
30ZAP701.39079833
31TXK1.37765324
32LRRK21.35117138
33TGFBR21.29899210
34PIK3CA1.28339760
35TBK11.28328984
36TESK21.27575288
37PAK41.27255052
38IRAK31.20365122
39MAP2K41.12050002
40SYK1.08660270
41MAP3K91.08365200
42PRKG21.06902679
43IRAK11.05668759
44FRK1.04794866
45LYN1.03980425
46PTK61.01922335
47RIPK10.98643977
48JAK20.97402016
49GRK70.93270296
50CSF1R0.92888097
51CAMK1D0.91109448
52RPS6KA40.89389747
53MATK0.88966485
54KDR0.86579448
55TAOK10.84122313
56IRAK20.82233974
57EPHA30.82176767
58MAP3K110.80994193
59PRKCD0.80475677
60ALK0.80059816
61IKBKE0.79270811
62MOS0.75461720
63RET0.73898194
64MAPK120.73070865
65CAMKK20.72120353
66IKBKB0.71125924
67LCK0.70945466
68GRK10.70747249
69MARK20.67419572
70MARK30.66651994
71MAPKAPK20.65616243
72CAMK1G0.65202831
73SIK30.65109164
74MAP3K20.63304090
75TTN0.63061837
76KIT0.62921351
77FYN0.61402290
78MST40.58836789
79JAK30.57845535
80EGFR0.57743535
81PIM10.55494910
82PTK2B0.55488973
83CDK60.54287766
84KSR10.52535015
85MAP3K10.52392326
86DAPK20.51993527
87RAF10.51536394
88WNK10.50711103
89ABL10.49988543
90ADRBK10.49819625
91PDK20.48395778
92ABL20.48330315
93MAP3K130.48172963
94RPS6KA60.48072331
95RPS6KC10.47384296
96RPS6KL10.47384296
97PIK3CG0.47073769
98CDK120.45830301
99JAK10.45666420
100PDK10.45409554
101FGFR30.44890576
102NEK90.44711629
103MAP3K80.43910391
104PKN20.43626500
105HIPK20.43301856
106GRK50.42955053
107MAPK70.41191663
108MAP2K60.39932832
109TESK10.39400263
110BMX0.39380622
111PDPK10.39378703
112PRKCH0.38592546
113MAP3K50.38260976
114TNK20.38147232
115PRKCQ0.36513234
116MAPK40.35293722
117CDK190.34724191
118YES10.34704773
119STK40.34520805
120SIK20.31236893
121SGK30.29028613
122MYLK0.28912713
123BMPR20.28871770
124TAOK30.28286158
125CAMKK10.28165323
126STK110.27804455
127RPS6KA20.27777373
128IGF1R0.24222359
129RPS6KA10.23830143

Predicted pathways (KEGG)

RankGene SetZ-score
1Staphylococcus aureus infection_Homo sapiens_hsa051504.44832520
2Leishmaniasis_Homo sapiens_hsa051404.00583102
3Osteoclast differentiation_Homo sapiens_hsa043802.56953832
4Leukocyte transendothelial migration_Homo sapiens_hsa046702.46633460
5Tuberculosis_Homo sapiens_hsa051522.33330173
6Legionellosis_Homo sapiens_hsa051342.32369966
7Pertussis_Homo sapiens_hsa051332.23830438
8Toll-like receptor signaling pathway_Homo sapiens_hsa046202.18768159
9Salmonella infection_Homo sapiens_hsa051322.12632129
10Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046662.09209287
11NOD-like receptor signaling pathway_Homo sapiens_hsa046211.93737808
12Chemokine signaling pathway_Homo sapiens_hsa040621.91593601
13TNF signaling pathway_Homo sapiens_hsa046681.83766675
14Shigellosis_Homo sapiens_hsa051311.80077163
15Caffeine metabolism_Homo sapiens_hsa002321.79453242
16Graft-versus-host disease_Homo sapiens_hsa053321.79346839
17Phagosome_Homo sapiens_hsa041451.77973113
18NF-kappa B signaling pathway_Homo sapiens_hsa040641.76301484
19Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.74241593
20Hematopoietic cell lineage_Homo sapiens_hsa046401.74108730
21Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.72593414
22Rheumatoid arthritis_Homo sapiens_hsa053231.67406081
23Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.63886699
24B cell receptor signaling pathway_Homo sapiens_hsa046621.63088632
25Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.58796020
26Malaria_Homo sapiens_hsa051441.56948872
27Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.53972063
28Asthma_Homo sapiens_hsa053101.46111676
29Histidine metabolism_Homo sapiens_hsa003401.43275524
30Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.38434554
31Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.34413902
32RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.32381596
33Hepatitis B_Homo sapiens_hsa051611.30008788
34Bladder cancer_Homo sapiens_hsa052191.29114378
35Toxoplasmosis_Homo sapiens_hsa051451.27910825
36Measles_Homo sapiens_hsa051621.21759206
37Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.20726084
38Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.18453331
39Lysosome_Homo sapiens_hsa041421.16107306
40Jak-STAT signaling pathway_Homo sapiens_hsa046301.15987831
41Platelet activation_Homo sapiens_hsa046111.15091332
42Amoebiasis_Homo sapiens_hsa051461.13822472
43Acute myeloid leukemia_Homo sapiens_hsa052211.11907853
44Influenza A_Homo sapiens_hsa051641.09117669
45Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.07597130
46Intestinal immune network for IgA production_Homo sapiens_hsa046721.06941436
47Pentose phosphate pathway_Homo sapiens_hsa000301.00727057
48SNARE interactions in vesicular transport_Homo sapiens_hsa041300.99780751
49Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.99272826
50Type I diabetes mellitus_Homo sapiens_hsa049400.98528059
51Complement and coagulation cascades_Homo sapiens_hsa046100.98454732
52Viral myocarditis_Homo sapiens_hsa054160.98227889
53Other glycan degradation_Homo sapiens_hsa005110.98005798
54VEGF signaling pathway_Homo sapiens_hsa043700.97582858
55Neurotrophin signaling pathway_Homo sapiens_hsa047220.91174420
56Allograft rejection_Homo sapiens_hsa053300.90924131
57Sphingolipid signaling pathway_Homo sapiens_hsa040710.90234774
58Pancreatic cancer_Homo sapiens_hsa052120.90214943
59Apoptosis_Homo sapiens_hsa042100.85392583
60Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.84815028
61AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.83174982
62African trypanosomiasis_Homo sapiens_hsa051430.81443175
63Nitrogen metabolism_Homo sapiens_hsa009100.80784703
64Galactose metabolism_Homo sapiens_hsa000520.75692215
65Herpes simplex infection_Homo sapiens_hsa051680.74809304
66Systemic lupus erythematosus_Homo sapiens_hsa053220.73633998
67Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.73591294
68GnRH signaling pathway_Homo sapiens_hsa049120.72890392
69Hepatitis C_Homo sapiens_hsa051600.71321631
70Starch and sucrose metabolism_Homo sapiens_hsa005000.67545392
71Glycosaminoglycan degradation_Homo sapiens_hsa005310.66926905
72Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.65933613
73Non-small cell lung cancer_Homo sapiens_hsa052230.64738206
74Estrogen signaling pathway_Homo sapiens_hsa049150.64445209
75Insulin resistance_Homo sapiens_hsa049310.62809234
76Chronic myeloid leukemia_Homo sapiens_hsa052200.62543756
77T cell receptor signaling pathway_Homo sapiens_hsa046600.62485281
78Transcriptional misregulation in cancer_Homo sapiens_hsa052020.61990290
79Viral carcinogenesis_Homo sapiens_hsa052030.61674873
80Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.61469745
81Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.59692084
82Regulation of actin cytoskeleton_Homo sapiens_hsa048100.59020020
83Proteoglycans in cancer_Homo sapiens_hsa052050.56658964
84Choline metabolism in cancer_Homo sapiens_hsa052310.54796992
85Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.53732967
86Phosphatidylinositol signaling system_Homo sapiens_hsa040700.53485590
87Endometrial cancer_Homo sapiens_hsa052130.53026142
88Endocytosis_Homo sapiens_hsa041440.51455829
89mTOR signaling pathway_Homo sapiens_hsa041500.50632149
90Dorso-ventral axis formation_Homo sapiens_hsa043200.47960173
91Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.47892991
92Antigen processing and presentation_Homo sapiens_hsa046120.46293597
93Rap1 signaling pathway_Homo sapiens_hsa040150.45754703
94Glycerophospholipid metabolism_Homo sapiens_hsa005640.44433990
95Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.44044523
96Notch signaling pathway_Homo sapiens_hsa043300.43862923
97Inositol phosphate metabolism_Homo sapiens_hsa005620.43590165
98Retinol metabolism_Homo sapiens_hsa008300.39251716
99Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.39015868
100Prolactin signaling pathway_Homo sapiens_hsa049170.38869919
101Carbohydrate digestion and absorption_Homo sapiens_hsa049730.38598720
102Prostate cancer_Homo sapiens_hsa052150.37740994
103FoxO signaling pathway_Homo sapiens_hsa040680.37370775
104Glioma_Homo sapiens_hsa052140.35120543
105HIF-1 signaling pathway_Homo sapiens_hsa040660.33531087
106Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.33235730
107Renal cell carcinoma_Homo sapiens_hsa052110.32339751
108Regulation of autophagy_Homo sapiens_hsa041400.31705067
109Primary immunodeficiency_Homo sapiens_hsa053400.31335600
110Type II diabetes mellitus_Homo sapiens_hsa049300.30972679
111MicroRNAs in cancer_Homo sapiens_hsa052060.29697815
112Collecting duct acid secretion_Homo sapiens_hsa049660.29671457
113Adipocytokine signaling pathway_Homo sapiens_hsa049200.24707931
114MAPK signaling pathway_Homo sapiens_hsa040100.24618824
115Autoimmune thyroid disease_Homo sapiens_hsa053200.23938817
116Phospholipase D signaling pathway_Homo sapiens_hsa040720.21982784
117Phenylalanine metabolism_Homo sapiens_hsa003600.20496800
118Pathways in cancer_Homo sapiens_hsa052000.18962389
119Pentose and glucuronate interconversions_Homo sapiens_hsa000400.18568911

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