CASP1

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 protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. 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 (G6.33180833
2negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.41987540
3negative regulation of cell killing (GO:0031342)5.41987540
4neutrophil activation involved in immune response (GO:0002283)5.00762405
5antigen processing and presentation of endogenous antigen (GO:0019883)5.00315532
6antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.95458290
7antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.95458290
8positive regulation of interferon-alpha production (GO:0032727)4.83060713
9modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.63026898
10positive regulation by organism of defense response of other organism involved in symbiotic interact4.63026898
11modulation by symbiont of host immune response (GO:0052553)4.63026898
12positive regulation by symbiont of host defense response (GO:0052509)4.63026898
13modulation by symbiont of host defense response (GO:0052031)4.63026898
14modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.63026898
15regulation of interferon-alpha production (GO:0032647)4.60985752
16negative regulation of interleukin-12 production (GO:0032695)4.49756524
17regulation of interferon-beta biosynthetic process (GO:0045357)4.46497431
18immunoglobulin mediated immune response (GO:0016064)4.45558520
19detection of bacterium (GO:0016045)4.42928741
20type I interferon signaling pathway (GO:0060337)4.26643860
21cellular response to type I interferon (GO:0071357)4.26643860
22response to peptidoglycan (GO:0032494)4.24361967
23response to type I interferon (GO:0034340)4.23946118
24respiratory burst (GO:0045730)4.19499658
25detection of external biotic stimulus (GO:0098581)4.03680747
26detection of molecule of bacterial origin (GO:0032490)4.02965390
27regulation of gamma-delta T cell activation (GO:0046643)4.02950376
28cellular response to interferon-beta (GO:0035458)4.00322566
29positive regulation of gamma-delta T cell activation (GO:0046645)4.00030560
30positive regulation of antigen processing and presentation (GO:0002579)3.86453820
31response to interferon-beta (GO:0035456)3.84736450
32regulation of T cell tolerance induction (GO:0002664)3.81925758
33response to interferon-alpha (GO:0035455)3.80835808
34granulocyte activation (GO:0036230)3.78960209
35macrophage activation involved in immune response (GO:0002281)3.76847538
36neutrophil activation (GO:0042119)3.72729201
37lipopolysaccharide-mediated signaling pathway (GO:0031663)3.70775569
38positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.69607843
39interferon-gamma-mediated signaling pathway (GO:0060333)3.66865603
40cellular response to exogenous dsRNA (GO:0071360)3.66679878
41regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.65596618
42regulation of tolerance induction (GO:0002643)3.65414594
43positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.60310318
44detection of biotic stimulus (GO:0009595)3.59784766
45defense response to protozoan (GO:0042832)3.59606908
46positive regulation of B cell differentiation (GO:0045579)3.59172779
47regulation of RIG-I signaling pathway (GO:0039535)3.49779412
48natural killer cell mediated immunity (GO:0002228)3.48684517
49natural killer cell mediated cytotoxicity (GO:0042267)3.48684517
50myeloid cell activation involved in immune response (GO:0002275)3.48266242
51negative regulation of lymphocyte mediated immunity (GO:0002707)3.47099401
52B cell mediated immunity (GO:0019724)3.46762789
53negative regulation of T cell mediated immunity (GO:0002710)3.45997690
54regulation of B cell receptor signaling pathway (GO:0050855)3.45213067
55positive regulation of interferon-beta production (GO:0032728)3.42423620
56negative regulation of viral genome replication (GO:0045071)3.41824163
57regulation of gamma-delta T cell differentiation (GO:0045586)3.39857493
58myeloid dendritic cell activation (GO:0001773)3.39665384
59cellular extravasation (GO:0045123)3.39304711
60response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.37391581
61response to host immune response (GO:0052572)3.37391581
62production of molecular mediator involved in inflammatory response (GO:0002532)3.35184124
63positive thymic T cell selection (GO:0045059)3.34531870
64reactive oxygen species biosynthetic process (GO:1903409)3.33604871
65antigen processing and presentation via MHC class Ib (GO:0002475)3.33359124
66negative T cell selection (GO:0043383)3.32853373
67regulation of antigen processing and presentation (GO:0002577)3.30568542
68positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.30139381
69hydrogen peroxide biosynthetic process (GO:0050665)3.28357063
70negative thymic T cell selection (GO:0045060)3.26089604
71positive regulation of mast cell activation (GO:0033005)3.25970986
72cellular response to zinc ion (GO:0071294)3.24462115
73response to protozoan (GO:0001562)3.24315821
74response to muramyl dipeptide (GO:0032495)3.23811946
75positive regulation of chemokine biosynthetic process (GO:0045080)3.23230857
76T cell migration (GO:0072678)3.23151447
77regulation of T-helper 1 cell differentiation (GO:0045625)3.22677239
78regulation of mast cell degranulation (GO:0043304)3.21808728
79NIK/NF-kappaB signaling (GO:0038061)3.20072646
80regulation of regulatory T cell differentiation (GO:0045589)3.19944246
81myeloid dendritic cell differentiation (GO:0043011)3.19840579
82Arp2/3 complex-mediated actin nucleation (GO:0034314)3.19682367
83negative regulation of leukocyte mediated immunity (GO:0002704)3.18755059
84regulation of interleukin-12 biosynthetic process (GO:0045075)3.18438699
85superoxide anion generation (GO:0042554)3.17571548
86leukocyte mediated cytotoxicity (GO:0001909)3.16438391
87positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.15298396
88positive regulation of type 2 immune response (GO:0002830)3.14046931
89lymphocyte chemotaxis (GO:0048247)3.13866718
90response to interleukin-15 (GO:0070672)3.13212434
91positive regulation of tolerance induction (GO:0002645)3.11384203
92regulation of chemokine biosynthetic process (GO:0045073)3.07837614
93regulation of dendritic cell antigen processing and presentation (GO:0002604)3.05548488
94regulation of B cell differentiation (GO:0045577)3.05294583
95response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.05138816
96response to host (GO:0075136)3.05138816
97response to host defenses (GO:0052200)3.05138816
98regulation of T cell mediated cytotoxicity (GO:0001914)3.04515403
99T-helper 1 type immune response (GO:0042088)3.03047868
100positive regulation of lymphocyte migration (GO:2000403)3.03010305
101positive regulation of natural killer cell differentiation (GO:0032825)3.01881405
102regulation of mast cell activation (GO:0033003)3.00848832
103regulation of syncytium formation by plasma membrane fusion (GO:0060142)3.00799950
104CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.99010247
105positive T cell selection (GO:0043368)2.96378111
106regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.95349816
107regulation of mast cell activation involved in immune response (GO:0033006)2.94820336
108positive regulation of mast cell activation involved in immune response (GO:0033008)2.93795027
109positive regulation of mast cell degranulation (GO:0043306)2.93795027
110response to interferon-gamma (GO:0034341)2.92897535
111cellular response to interleukin-15 (GO:0071350)2.92680955
112mast cell activation (GO:0045576)2.92525466
113regulation of myeloid leukocyte mediated immunity (GO:0002886)2.91793672
114negative regulation of interleukin-17 production (GO:0032700)2.91253963
115positive regulation of T cell mediated cytotoxicity (GO:0001916)2.90709624
116T cell selection (GO:0045058)2.88870989
117dendritic cell differentiation (GO:0097028)2.88046058
118positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.87175769
119myeloid leukocyte activation (GO:0002274)2.87143968
120positive regulation of defense response to virus by host (GO:0002230)2.86645689
121regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.86503202
122regulation of natural killer cell mediated immunity (GO:0002715)2.86503202
123B cell receptor signaling pathway (GO:0050853)2.85928249
124cellular response to interferon-gamma (GO:0071346)2.85517632
125positive regulation of interleukin-12 production (GO:0032735)2.84495443
126positive regulation of T cell migration (GO:2000406)2.84373562
127negative regulation of cytokine production involved in immune response (GO:0002719)2.82979719
128neutrophil mediated immunity (GO:0002446)2.82880807
129detection of other organism (GO:0098543)2.82092666
130positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.80734850
131positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.80599177
132regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)2.80393302
133dendritic cell chemotaxis (GO:0002407)2.79740217
134leukocyte aggregation (GO:0070486)2.77208888
135regulation of alpha-beta T cell proliferation (GO:0046640)2.77117302
136positive regulation of isotype switching (GO:0045830)2.75142350
137macrophage activation (GO:0042116)2.74974960
138microglial cell activation (GO:0001774)2.72800459
139regulation of interleukin-8 biosynthetic process (GO:0045414)2.72009131
140positive regulation of cellular amide metabolic process (GO:0034250)2.71895645
141positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.70675081

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human7.05561295
2* IRF8_21731497_ChIP-ChIP_J774_Mouse6.26093878
3BP1_19119308_ChIP-ChIP_Hs578T_Human5.34274354
4* IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.71764652
5IRF1_21803131_ChIP-Seq_MONOCYTES_Human4.57367274
6IRF8_27001747_Chip-Seq_BMDM_Mouse4.10582507
7SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.77635112
8FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.59143319
9MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.55318436
10NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.48420576
11STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.29665679
12* SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.11010321
13MYB_21317192_ChIP-Seq_ERMYB_Mouse3.07039933
14STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.94180565
15* STAT4_19710469_ChIP-ChIP_TH1__Mouse2.85078726
16Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.79101480
17EGR1_19374776_ChIP-ChIP_THP-1_Human2.67668217
18RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.65929534
19SPI1_23547873_ChIP-Seq_NB4_Human2.40960190
20SCL_19346495_ChIP-Seq_HPC-7_Human2.31133763
21RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.18889984
22NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.17837857
23STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.16143293
24BRD4_27068464_Chip-Seq_AML-cells_Mouse2.10685111
25MYB_26560356_Chip-Seq_TH2_Human2.04619795
26CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.99044911
27SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.95338963
28VDR_24763502_ChIP-Seq_THP-1_Human1.91972073
29GATA1_22025678_ChIP-Seq_K562_Human1.91272377
30ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.89493384
31RUNX1_22412390_ChIP-Seq_EML_Mouse1.82648598
32VDR_21846776_ChIP-Seq_THP-1_Human1.80248020
33FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.77644130
34FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.75521678
35MAF_26560356_Chip-Seq_TH1_Human1.75404809
36RUNX_20019798_ChIP-Seq_JUKART_Human1.71698931
37PU_27001747_Chip-Seq_BMDM_Mouse1.71367224
38MYB_26560356_Chip-Seq_TH1_Human1.70263466
39NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.68581643
40* CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.63792938
41E2F7_22180533_ChIP-Seq_HELA_Human1.62194685
42LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.56661953
43* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.56560514
44PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.55861755
45TP63_17297297_ChIP-ChIP_HaCaT_Human1.51739255
46LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.51735794
47MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.49761596
48SPI1_23127762_ChIP-Seq_K562_Human1.48809139
49GATA2_22383799_ChIP-Seq_G1ME_Mouse1.46515954
50PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.41633113
51VDR_24787735_ChIP-Seq_THP-1_Human1.37436176
52CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.33762474
53GATA3_26560356_Chip-Seq_TH2_Human1.31283949
54GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.30202719
55* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.28917438
56GATA3_27048872_Chip-Seq_THYMUS_Human1.24013938
57UTX_26944678_Chip-Seq_JUKART_Human1.21641789
58E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.19668780
59* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.16253884
60GATA2_21666600_ChIP-Seq_HMVEC_Human1.15160125
61* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.14625295
62SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.12523876
63GATA1_22383799_ChIP-Seq_G1ME_Mouse1.12260062
64PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.11168451
65KDM2B_26808549_Chip-Seq_SUP-B15_Human1.10619702
66MYC_22102868_ChIP-Seq_BL_Human1.10061445
67TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.08378489
68SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.06658624
69THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.04217807
70HOXB4_20404135_ChIP-ChIP_EML_Mouse1.04170624
71ELF1_17652178_ChIP-ChIP_JURKAT_Human1.02554506
72TCF7_22412390_ChIP-Seq_EML_Mouse1.02013979
73GATA1_19941826_ChIP-Seq_K562_Human1.00411721
74CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.99016803
75VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.97061927
76KDM2B_26808549_Chip-Seq_DND41_Human0.95127507
77MAF_26560356_Chip-Seq_TH2_Human0.94083012
78ERG_20887958_ChIP-Seq_HPC-7_Mouse0.94069106
79BCL6_27268052_Chip-Seq_Bcells_Human0.93844177
80GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.93752758
81SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91483138
82EGR1_23403033_ChIP-Seq_LIVER_Mouse0.90162227
83STAT1_20625510_ChIP-Seq_HELA_Human0.89532737
84NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.89272362
85VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.86341416
86KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.85051314
87TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.84732022
88GATA1_19941827_ChIP-Seq_MEL_Mouse0.83808664
89TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.82818535
90PU.1_20513432_ChIP-Seq_Bcells_Mouse0.82336539
91SOX2_20726797_ChIP-Seq_SW620_Human0.81943782
92CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.81729034
93KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.81716150
94TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.81317692
95BCOR_27268052_Chip-Seq_Bcells_Human0.79305249
96CDX2_20551321_ChIP-Seq_CACO-2_Human0.78215252
97TFEB_21752829_ChIP-Seq_HELA_Human0.77879623
98GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.76798479
99CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.76380293
100LXR_22292898_ChIP-Seq_THP-1_Human0.75687329
101BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.75142832
102* EGR1_19032775_ChIP-ChIP_M12_Human0.73457405
103SMRT_27268052_Chip-Seq_Bcells_Human0.72361329
104IKZF1_21737484_ChIP-ChIP_HCT116_Human0.71021248
105PPARA_22158963_ChIP-Seq_LIVER_Mouse0.69238581
106RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.69230449
107NOTCH1_21737748_ChIP-Seq_TLL_Human0.68265614
108FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.67691523
109GATA2_19941826_ChIP-Seq_K562_Human0.67607860
110STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.66534954
111ETS1_22383799_ChIP-Seq_G1ME_Mouse0.66491756
112GATA1_19941827_ChIP-Seq_MEL86_Mouse0.64956244
113RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.64362681
114SMAD_19615063_ChIP-ChIP_OVARY_Human0.64306218
115RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.63584830
116ELK3_25401928_ChIP-Seq_HUVEC_Human0.63460678
117ELK1_19687146_ChIP-ChIP_HELA_Human0.61144150
118SPI1_20517297_ChIP-Seq_HL60_Human0.60242708
119GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.59541952
120P63_26484246_Chip-Seq_KERATINOCYTES_Human0.58895443
121* SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.58298477

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation5.23979382
2* MP0009785_altered_susceptibility_to3.72315098
3MP0002148_abnormal_hypersensitivity_rea3.53634919
4MP0003436_decreased_susceptibility_to3.46960425
5* MP0005025_abnormal_response_to3.13583828
6* MP0005000_abnormal_immune_tolerance3.13175200
7MP0005671_abnormal_response_to3.12255915
8MP0000685_abnormal_immune_system3.10847474
9* MP0002419_abnormal_innate_immunity3.00071414
10MP0003724_increased_susceptibility_to2.98765036
11MP0001790_abnormal_immune_system2.89392089
12MP0005387_immune_system_phenotype2.89392089
13MP0006082_CNS_inflammation2.81326271
14MP0001800_abnormal_humoral_immune2.78475679
15* MP0002452_abnormal_antigen_presenting2.73150211
16* MP0002723_abnormal_immune_serum2.59726201
17* MP0001819_abnormal_immune_cell2.41468714
18MP0003303_peritoneal_inflammation2.40684493
19* MP0002420_abnormal_adaptive_immunity2.39184267
20MP0004510_myositis2.23542764
21MP0004947_skin_inflammation2.13061555
22MP0005058_abnormal_lysosome_morphology2.10247445
23MP0005464_abnormal_platelet_physiology2.08129778
24MP0002006_tumorigenesis2.06051387
25* MP0010155_abnormal_intestine_physiology2.05226008
26MP0002405_respiratory_system_inflammati2.04309646
27MP0001853_heart_inflammation2.01859037
28MP0002166_altered_tumor_susceptibility2.01698130
29* MP0001845_abnormal_inflammatory_respons1.90585124
30MP0001533_abnormal_skeleton_physiology1.89506074
31MP0000716_abnormal_immune_system1.85853657
32MP0003172_abnormal_lysosome_physiology1.81242610
33MP0002398_abnormal_bone_marrow1.80549421
34MP0002254_reproductive_system_inflammat1.80317004
35MP0009333_abnormal_splenocyte_physiolog1.73917295
36MP0005310_abnormal_salivary_gland1.70397134
37* MP0008469_abnormal_protein_level1.66362826
38MP0008260_abnormal_autophagy1.65211621
39MP0001873_stomach_inflammation1.63685632
40MP0002396_abnormal_hematopoietic_system1.57008969
41MP0005174_abnormal_tail_pigmentation1.52770566
42MP0003763_abnormal_thymus_physiology1.52509162
43* MP0009764_decreased_sensitivity_to1.51752451
44MP0000343_altered_response_to1.51588020
45MP0002429_abnormal_blood_cell1.51471368
46MP0000689_abnormal_spleen_morphology1.47006706
47* MP0003448_altered_tumor_morphology1.44283498
48MP0005397_hematopoietic_system_phenotyp1.43260893
49MP0001545_abnormal_hematopoietic_system1.43260893
50MP0002722_abnormal_immune_system1.41183646
51MP0000569_abnormal_digit_pigmentation1.36611245
52MP0003806_abnormal_nucleotide_metabolis1.35824958
53MP0003300_gastrointestinal_ulcer1.31589484
54MP0004782_abnormal_surfactant_physiolog1.31495279
55MP0003866_abnormal_defecation1.31092387
56MP0003191_abnormal_cellular_cholesterol1.28450349
57MP0005451_abnormal_body_composition1.27529387
58MP0000490_abnormal_crypts_of1.27214907
59MP0009278_abnormal_bone_marrow1.25879500
60MP0002998_abnormal_bone_remodeling1.25680483
61MP0000604_amyloidosis1.25131334
62MP0002277_abnormal_respiratory_mucosa1.22628891
63* MP0000858_altered_metastatic_potential1.22535308
64* MP0003075_altered_response_to1.21982689
65MP0004883_abnormal_blood_vessel1.13798129
66MP0003183_abnormal_peptide_metabolism1.10602756
67MP0004808_abnormal_hematopoietic_stem1.10132078
68MP0000465_gastrointestinal_hemorrhage1.09478187
69MP0002132_abnormal_respiratory_system1.08994051
70MP0008004_abnormal_stomach_pH1.07294754
71MP0010307_abnormal_tumor_latency1.03570754
72MP0009840_abnormal_foam_cell1.00776397
73* MP0005166_decreased_susceptibility_to0.99268251
74MP0000015_abnormal_ear_pigmentation0.92830200
75MP0001663_abnormal_digestive_system0.92659033
76MP0004381_abnormal_hair_follicle0.91626324
77MP0003186_abnormal_redox_activity0.91061153
78* MP0009763_increased_sensitivity_to0.88452396
79MP0005164_abnormal_response_to0.87338648
80MP0003045_fibrosis0.82861432
81MP0010352_gastrointestinal_tract_polyps0.82467750
82MP0001851_eye_inflammation0.82191824
83MP0000703_abnormal_thymus_morphology0.81505971
84MP0005390_skeleton_phenotype0.81112090
85MP0005167_abnormal_blood-brain_barrier0.80387355
86MP0003828_pulmonary_edema0.80019395
87MP0001348_abnormal_lacrimal_gland0.79888531
88MP0002933_joint_inflammation0.78130764
89MP0002139_abnormal_hepatobiliary_system0.77466488
90MP0009765_abnormal_xenobiotic_induced0.74366687
91MP0000249_abnormal_blood_vessel0.72075821
92MP0005360_urolithiasis0.69078194
93MP0003453_abnormal_keratinocyte_physiol0.66826972
94MP0005075_abnormal_melanosome_morpholog0.65190443
95MP0003656_abnormal_erythrocyte_physiolo0.64701631
96MP0003690_abnormal_glial_cell0.63798962
97MP0003795_abnormal_bone_structure0.62577165
98MP0000920_abnormal_myelination0.61062940
99* MP0002136_abnormal_kidney_physiology0.60944735
100MP0002019_abnormal_tumor_incidence0.60242706
101MP0006054_spinal_hemorrhage0.56778890
102MP0008874_decreased_physiological_sensi0.56543693
103MP0005085_abnormal_gallbladder_physiolo0.55632875
104MP0003566_abnormal_cell_adhesion0.55274703
105MP0002332_abnormal_exercise_endurance0.54183379
106MP0005584_abnormal_enzyme/coenzyme_acti0.53973706
107MP0001216_abnormal_epidermal_layer0.53814478
108MP0000371_diluted_coat_color0.53154020
109MP0001881_abnormal_mammary_gland0.53121385
110MP0000609_abnormal_liver_physiology0.53024406
111MP0002095_abnormal_skin_pigmentation0.52429326
112MP0005319_abnormal_enzyme/_coenzyme0.50834119
113MP0008873_increased_physiological_sensi0.50754381
114MP0002138_abnormal_hepatobiliary_system0.49880101
115MP0001191_abnormal_skin_condition0.49135801
116MP0005535_abnormal_body_temperature0.48885019
117MP0005381_digestive/alimentary_phenotyp0.48665747
118MP0000477_abnormal_intestine_morphology0.46748075
119MP0005023_abnormal_wound_healing0.45404455

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)6.54542434
2Eczematoid dermatitis (HP:0000976)6.12604602
3Recurrent bacterial skin infections (HP:0005406)6.06505465
4Elevated erythrocyte sedimentation rate (HP:0003565)4.97541592
5Autoimmune thrombocytopenia (HP:0001973)4.70648987
6Recurrent gram-negative bacterial infections (HP:0005420)4.70185412
7Myositis (HP:0100614)4.66188081
8Abnormality of macrophages (HP:0004311)4.41225136
9Mediastinal lymphadenopathy (HP:0100721)4.25454281
10Recurrent skin infections (HP:0001581)4.08906063
11Recurrent fungal infections (HP:0002841)4.02410142
12Orchitis (HP:0100796)3.90272387
13Recurrent viral infections (HP:0004429)3.85534521
14Chronic otitis media (HP:0000389)3.77954406
15T lymphocytopenia (HP:0005403)3.75110802
16Vacuolated lymphocytes (HP:0001922)3.71031028
17Optic neuritis (HP:0100653)3.57899807
18Retrobulbar optic neuritis (HP:0100654)3.57899807
19Vasculitis (HP:0002633)3.55629594
20Recurrent cutaneous fungal infections (HP:0011370)3.48644622
21Chronic mucocutaneous candidiasis (HP:0002728)3.48644622
22Chronic obstructive pulmonary disease (HP:0006510)3.45287099
23Obstructive lung disease (HP:0006536)3.45287099
24Gingivitis (HP:0000230)3.45263441
25Pustule (HP:0200039)3.43382257
26Periodontitis (HP:0000704)3.37742625
27Systemic lupus erythematosus (HP:0002725)3.32204260
28Thrombocytosis (HP:0001894)3.25886544
29Cellulitis (HP:0100658)3.25258622
30Stomatitis (HP:0010280)3.19032363
31Meningitis (HP:0001287)3.16420947
32Prostate neoplasm (HP:0100787)3.10912589
33Petechiae (HP:0000967)3.04831776
34Interstitial pulmonary disease (HP:0006530)2.94717564
35Recurrent bronchitis (HP:0002837)2.94467657
36Gangrene (HP:0100758)2.86271360
37Abnormality of T cell physiology (HP:0011840)2.85201436
38Amyloidosis (HP:0011034)2.84530532
39Increased IgM level (HP:0003496)2.83297621
40Basal ganglia calcification (HP:0002135)2.80938266
41Increased cerebral lipofuscin (HP:0011813)2.78675665
42Recurrent pneumonia (HP:0006532)2.77607050
43Hypergammaglobulinemia (HP:0010702)2.73517197
44Abnormal delayed hypersensitivity skin test (HP:0002963)2.73505911
45Urticaria (HP:0001025)2.71547049
46Abnormality of the prostate (HP:0008775)2.71389654
47Pulmonary embolism (HP:0002204)2.71257174
48IgM deficiency (HP:0002850)2.70820317
49Pulmonary infiltrates (HP:0002113)2.69408383
50Inflammation of the large intestine (HP:0002037)2.68577419
51Agammaglobulinemia (HP:0004432)2.68116118
52Autoimmune hemolytic anemia (HP:0001890)2.67456059
53Increased neuronal autofluorescent lipopigment (HP:0002074)2.65965865
54Recurrent lower respiratory tract infections (HP:0002783)2.62687446
55Nasal polyposis (HP:0100582)2.60741635
56Anorexia (HP:0002039)2.58681080
57Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.57862702
58Osteomyelitis (HP:0002754)2.57663965
59Disinhibition (HP:0000734)2.57632291
60Keratoconjunctivitis (HP:0001096)2.56289507
61Gastrointestinal inflammation (HP:0004386)2.55955995
62Abnormality of the pleura (HP:0002103)2.50658149
63Colitis (HP:0002583)2.50642711
64Abnormality of T cells (HP:0002843)2.47728575
65Leukocytosis (HP:0001974)2.46765873
66Gingival bleeding (HP:0000225)2.45540671
67Spontaneous hematomas (HP:0007420)2.44784410
68Thick nail (HP:0001805)2.43517314
69Arterial thrombosis (HP:0004420)2.41850672
70Keratoconjunctivitis sicca (HP:0001097)2.40867618
71Chronic diarrhea (HP:0002028)2.39628403
72Eosinophilia (HP:0001880)2.39624609
73Malnutrition (HP:0004395)2.38461381
74Abnormality of cells of the lymphoid lineage (HP:0012140)2.36932034
75Purpura (HP:0000979)2.35918647
76Episodic fever (HP:0001954)2.34119615
77Axonal loss (HP:0003447)2.34056224
78Lymphopenia (HP:0001888)2.33385939
79Tetraparesis (HP:0002273)2.33296577
80Hemoptysis (HP:0002105)2.30394285
81Loss of speech (HP:0002371)2.30019035
82Encephalitis (HP:0002383)2.29781328
83Abnormality of the nasal mucosa (HP:0000433)2.29667533
84Gastrointestinal stroma tumor (HP:0100723)2.29099604
85Peritonitis (HP:0002586)2.28950488
86Granulocytopenia (HP:0001913)2.28703523
87Increased IgE level (HP:0003212)2.27085692
88Premature loss of primary teeth (HP:0006323)2.25755841
89Glomerulopathy (HP:0100820)2.25707056
90Polyneuropathy (HP:0001271)2.25463364
91Hematochezia (HP:0002573)2.23303324
92Glomerulonephritis (HP:0000099)2.20153357
93Panhypogammaglobulinemia (HP:0003139)2.18831929
94Skin ulcer (HP:0200042)2.18554624
95Skin rash (HP:0000988)2.17598040
96Joint swelling (HP:0001386)2.16869547
97Gastrointestinal infarctions (HP:0005244)2.15419931
98Hypochromic anemia (HP:0001931)2.15275013
99Agnosia (HP:0010524)2.13956906
100Cheilitis (HP:0100825)2.13771425
101Sepsis (HP:0100806)2.12886601
102Abnormality of T cell number (HP:0011839)2.11642272
103Dysostosis multiplex (HP:0000943)2.11253791
104Hepatosplenomegaly (HP:0001433)2.10792576
105Vertigo (HP:0002321)2.09984468
106Epistaxis (HP:0000421)2.08016301
107IgG deficiency (HP:0004315)2.06983402
108Increased serum ferritin (HP:0003281)2.06934755
109Albinism (HP:0001022)2.05446055
110Chronic sinusitis (HP:0011109)2.05417610
111Abnormality of liposaccharide metabolism (HP:0010968)2.03872968
112Abnormality of glycosphingolipid metabolism (HP:0004343)2.03872968
113Abnormality of glycolipid metabolism (HP:0010969)2.03872968
114Poikiloderma (HP:0001029)2.01385506
115Prolonged bleeding time (HP:0003010)2.01179171
116Abnormality of eosinophils (HP:0001879)2.00018423
117Abnormality of the pericardium (HP:0001697)1.99823400
118Acute hepatic failure (HP:0006554)1.99068337
119IgA deficiency (HP:0002720)1.95847388
120Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.94311372
121Abnormality of iron homeostasis (HP:0011031)1.94235759
122Keratitis (HP:0000491)1.93719246
123Chest pain (HP:0100749)1.93266639
124Arthralgia (HP:0002829)1.90361158

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K143.73584637
2BLK3.52202872
3RIPK43.33741664
4IRAK43.22883058
5TBK13.21061850
6TYK23.17193762
7MAP4K13.04429627
8IRAK33.04090753
9JAK32.91439052
10KIT2.90388003
11IKBKE2.71229712
12TXK2.26056494
13PBK2.23303345
14IKBKB2.20259309
15TEC2.12755378
16ERN12.05854392
17PIM21.99970924
18BTK1.93421340
19JAK11.90157506
20PRPF4B1.82603365
21NME21.80351041
22SYK1.77519080
23ZAP701.56182457
24TESK21.54314508
25MAP3K131.54231786
26CSF1R1.51823042
27MAP3K31.51141262
28TNK21.46763095
29MATK1.41805181
30NEK91.40357780
31TAOK31.39626602
32CHUK1.39349496
33TGFBR21.38486910
34MST1R1.37412406
35MST41.31789646
36LYN1.31077463
37TAOK11.25559208
38MAP2K31.22758697
39LCK1.22717050
40HCK1.21768540
41CSK1.21399512
42ITK1.17439232
43MAP3K11.17169681
44STK101.15479747
45PIM11.12452615
46RPS6KA41.11093933
47JAK21.06581616
48CLK11.06062084
49EIF2AK21.02711859
50FLT30.97825173
51FES0.97047542
52TAOK20.95775910
53FGFR30.93995397
54CDK190.92312735
55ACVR1B0.91364680
56STK40.88664873
57FGFR40.87640587
58TRPM70.76994765
59FGR0.76558649
60EPHB10.75564480
61PRKCD0.74111148
62CDC42BPA0.72080154
63GRK70.71460527
64MAP3K120.71426988
65LRRK20.70682008
66KSR20.69602755
67BMPR20.69563854
68YES10.66765426
69PDPK10.65002034
70IRAK20.64666518
71PRKG20.64557116
72GRK60.62329963
73SIK30.58688936
74ABL20.58182516
75MARK30.58131179
76MAP3K50.57898036
77ABL10.57772681
78MAP3K20.57232822
79MAP3K60.55265869
80MAPK70.49537857
81EGFR0.49264564
82NLK0.48985688
83BMX0.46845368
84PIK3CG0.45198064
85STK240.44172182
86MAP3K100.43687656
87PTK60.42037376
88RPS6KA60.41096863
89PRKCQ0.40318025
90ADRBK20.39763291
91MAP2K60.39378688
92MAPK120.39206274
93RIPK10.38438165
94MAPKAPK20.37932380
95SIK20.37767170
96HIPK20.36768138
97MOS0.36633884
98MAP3K110.35663437
99EPHA30.34339792
100TGFBR10.34108460
101CDK60.33837119
102CAMKK20.33372989
103DYRK1B0.32953139
104MAPK110.32119126
105IRAK10.31986971
106NUAK10.31586080
107PTK2B0.30899626
108PIK3CA0.30615359
109PRKD20.30039747
110MAPK40.29405152
111PDK10.29144512
112EIF2AK30.28757338
113FRK0.28133807
114MUSK0.28083106
115RPS6KC10.26876427
116RPS6KL10.26876427
117MARK20.26434573
118KDR0.26381203
119IGF1R0.25863278
120EIF2AK10.25109716
121FYN0.24958373
122SCYL20.24744438
123DDR20.23832169

Predicted pathways (KEGG)

RankGene SetZ-score
1Leishmaniasis_Homo sapiens_hsa051403.41435971
2* Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.75822147
3Toll-like receptor signaling pathway_Homo sapiens_hsa046202.71702014
4Allograft rejection_Homo sapiens_hsa053302.68536120
5Graft-versus-host disease_Homo sapiens_hsa053322.67631130
6NF-kappa B signaling pathway_Homo sapiens_hsa040642.66584894
7Staphylococcus aureus infection_Homo sapiens_hsa051502.53879025
8RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.51357047
9Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.45271276
10Intestinal immune network for IgA production_Homo sapiens_hsa046722.41904995
11Measles_Homo sapiens_hsa051622.35721899
12Osteoclast differentiation_Homo sapiens_hsa043802.30687975
13* Legionellosis_Homo sapiens_hsa051342.24487507
14Primary immunodeficiency_Homo sapiens_hsa053402.24288416
15* Pertussis_Homo sapiens_hsa051332.21845893
16* NOD-like receptor signaling pathway_Homo sapiens_hsa046212.13337107
17Asthma_Homo sapiens_hsa053102.02837691
18Tuberculosis_Homo sapiens_hsa051522.02462963
19Antigen processing and presentation_Homo sapiens_hsa046122.02327551
20Malaria_Homo sapiens_hsa051441.96798766
21* Influenza A_Homo sapiens_hsa051641.91547219
22B cell receptor signaling pathway_Homo sapiens_hsa046621.86107005
23Herpes simplex infection_Homo sapiens_hsa051681.84763568
24Hematopoietic cell lineage_Homo sapiens_hsa046401.72390136
25TNF signaling pathway_Homo sapiens_hsa046681.66209839
26Rheumatoid arthritis_Homo sapiens_hsa053231.65270271
27Toxoplasmosis_Homo sapiens_hsa051451.62125036
28* Salmonella infection_Homo sapiens_hsa051321.59307511
29Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.55142392
30Type I diabetes mellitus_Homo sapiens_hsa049401.52198393
31African trypanosomiasis_Homo sapiens_hsa051431.49865975
32Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.47818182
33Jak-STAT signaling pathway_Homo sapiens_hsa046301.46394864
34Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.44406670
35Lysosome_Homo sapiens_hsa041421.43931079
36Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.34966484
37Apoptosis_Homo sapiens_hsa042101.34497740
38Chemokine signaling pathway_Homo sapiens_hsa040621.32761515
39Autoimmune thyroid disease_Homo sapiens_hsa053201.31353515
40Phagosome_Homo sapiens_hsa041451.30682743
41Other glycan degradation_Homo sapiens_hsa005111.27296719
42Shigellosis_Homo sapiens_hsa051311.23173091
43Glycosaminoglycan degradation_Homo sapiens_hsa005311.21652470
44Hepatitis B_Homo sapiens_hsa051611.19461837
45Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.17698045
46Caffeine metabolism_Homo sapiens_hsa002321.16667161
47Hepatitis C_Homo sapiens_hsa051601.13436402
48Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.02129273
49Viral myocarditis_Homo sapiens_hsa054161.01512237
50Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.00280194
51Leukocyte transendothelial migration_Homo sapiens_hsa046700.99388559
52Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.98800945
53T cell receptor signaling pathway_Homo sapiens_hsa046600.88968961
54Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.79735357
55Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.79147210
56AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.78133653
57Acute myeloid leukemia_Homo sapiens_hsa052210.73288481
58Transcriptional misregulation in cancer_Homo sapiens_hsa052020.68517151
59Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.66845875
60Amoebiasis_Homo sapiens_hsa051460.63365044
61Platelet activation_Homo sapiens_hsa046110.62215648
62Mineral absorption_Homo sapiens_hsa049780.59782152
63Epstein-Barr virus infection_Homo sapiens_hsa051690.58867884
64Ribosome_Homo sapiens_hsa030100.56078216
65Prolactin signaling pathway_Homo sapiens_hsa049170.52608086
66Chronic myeloid leukemia_Homo sapiens_hsa052200.51138853
67Pentose and glucuronate interconversions_Homo sapiens_hsa000400.49558324
68Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.49541572
69Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.48662101
70Renin-angiotensin system_Homo sapiens_hsa046140.48058811
71Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.47665931
72Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.47509693
73Endocytosis_Homo sapiens_hsa041440.46017064
74Small cell lung cancer_Homo sapiens_hsa052220.45474533
75Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.45450855
76SNARE interactions in vesicular transport_Homo sapiens_hsa041300.44095900
77Non-small cell lung cancer_Homo sapiens_hsa052230.43719820
78Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.43512641
79Pancreatic cancer_Homo sapiens_hsa052120.42243898
80Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.41937727
81Neurotrophin signaling pathway_Homo sapiens_hsa047220.40658310
82Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.40153715
83Viral carcinogenesis_Homo sapiens_hsa052030.37845415
84p53 signaling pathway_Homo sapiens_hsa041150.37388877
85HIF-1 signaling pathway_Homo sapiens_hsa040660.37047306
86Proteasome_Homo sapiens_hsa030500.35690192
87Collecting duct acid secretion_Homo sapiens_hsa049660.34912082
88* Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.33507138
89DNA replication_Homo sapiens_hsa030300.32918175
90Base excision repair_Homo sapiens_hsa034100.32723667
91Complement and coagulation cascades_Homo sapiens_hsa046100.31066199
92Pentose phosphate pathway_Homo sapiens_hsa000300.30365932
93Folate biosynthesis_Homo sapiens_hsa007900.29807644
94Adipocytokine signaling pathway_Homo sapiens_hsa049200.29771343
95Galactose metabolism_Homo sapiens_hsa000520.28857360
96Sphingolipid signaling pathway_Homo sapiens_hsa040710.27363375
97Dorso-ventral axis formation_Homo sapiens_hsa043200.25261433
98Histidine metabolism_Homo sapiens_hsa003400.25193836
99Renal cell carcinoma_Homo sapiens_hsa052110.22251998
100Phospholipase D signaling pathway_Homo sapiens_hsa040720.21306720
101HTLV-I infection_Homo sapiens_hsa051660.20703485
102Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.20205935
103Ether lipid metabolism_Homo sapiens_hsa005650.19716287
104Carbohydrate digestion and absorption_Homo sapiens_hsa049730.19482886
105FoxO signaling pathway_Homo sapiens_hsa040680.19319087
106GnRH signaling pathway_Homo sapiens_hsa049120.19172227
107Insulin resistance_Homo sapiens_hsa049310.18582735
108Arachidonic acid metabolism_Homo sapiens_hsa005900.18479041
109Sphingolipid metabolism_Homo sapiens_hsa006000.18408952
110Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.18129038
111Systemic lupus erythematosus_Homo sapiens_hsa053220.17976495
112Prion diseases_Homo sapiens_hsa050200.17892207
113VEGF signaling pathway_Homo sapiens_hsa043700.17481235
114Regulation of autophagy_Homo sapiens_hsa041400.17026962
115MAPK signaling pathway_Homo sapiens_hsa040100.12940378
116Drug metabolism - other enzymes_Homo sapiens_hsa009830.12423838
117Bladder cancer_Homo sapiens_hsa052190.11941433
118Regulation of actin cytoskeleton_Homo sapiens_hsa048100.11335017
119Notch signaling pathway_Homo sapiens_hsa043300.10883434

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