CTSB

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 C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to form the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer's disease, the most common cause of dementia. Overexpression of the encoded protein has been associated with esophageal adenocarcinoma and other tumors. Multiple pseudogenes of this gene have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1modulation by organism of immune response of other organism involved in symbiotic interaction (GO:007.64224838
2modulation by organism of defense response of other organism involved in symbiotic interaction (GO:07.64224838
3positive regulation by organism of defense response of other organism involved in symbiotic interact7.64224838
4modulation by symbiont of host immune response (GO:0052553)7.64224838
5positive regulation by symbiont of host defense response (GO:0052509)7.64224838
6modulation by symbiont of host defense response (GO:0052031)7.64224838
7regulation of interferon-beta biosynthetic process (GO:0045357)6.68252281
8macrophage activation involved in immune response (GO:0002281)5.81333026
9positive regulation of interleukin-8 biosynthetic process (GO:0045416)5.55603121
10antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.54217573
11oligosaccharide catabolic process (GO:0009313)5.21087871
12positive regulation of interferon-alpha production (GO:0032727)5.03028893
13neutrophil activation involved in immune response (GO:0002283)4.98070500
14glycolipid catabolic process (GO:0019377)4.95357648
15response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.93494425
16response to host immune response (GO:0052572)4.93494425
17negative regulation of interleukin-12 production (GO:0032695)4.84576972
18microglial cell activation (GO:0001774)4.83570008
19regulation of interferon-alpha production (GO:0032647)4.79766853
20amino sugar catabolic process (GO:0046348)4.57715961
21response to defenses of other organism involved in symbiotic interaction (GO:0052173)4.41843085
22response to host (GO:0075136)4.41843085
23response to host defenses (GO:0052200)4.41843085
24ceramide catabolic process (GO:0046514)4.38975380
25macrophage activation (GO:0042116)4.19306791
26regulation of mononuclear cell migration (GO:0071675)4.15308323
27immunoglobulin mediated immune response (GO:0016064)3.91389589
28response to peptidoglycan (GO:0032494)3.89513662
29regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.84354580
30membrane lipid catabolic process (GO:0046466)3.83710875
31barbed-end actin filament capping (GO:0051016)3.82831112
32myeloid cell activation involved in immune response (GO:0002275)3.78627296
33positive regulation of antigen processing and presentation (GO:0002579)3.75832091
34respiratory burst (GO:0045730)3.73893168
35adhesion of symbiont to host cell (GO:0044650)3.73852019
36virion attachment to host cell (GO:0019062)3.73852019
37regulation of B cell receptor signaling pathway (GO:0050855)3.72080743
38sphingolipid catabolic process (GO:0030149)3.68233431
39regulation of cholesterol storage (GO:0010885)3.67650102
40N-acetylneuraminate metabolic process (GO:0006054)3.67593056
41pinocytosis (GO:0006907)3.67243987
42regulation of interleukin-8 biosynthetic process (GO:0045414)3.65187561
43positive regulation of monocyte chemotaxis (GO:0090026)3.62780267
44negative regulation of nitric oxide biosynthetic process (GO:0045019)3.53528451
45negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)3.52475072
46regulation of vitamin D biosynthetic process (GO:0060556)3.50901893
47T-helper 1 type immune response (GO:0042088)3.47205843
48detection of molecule of bacterial origin (GO:0032490)3.45730626
49I-kappaB phosphorylation (GO:0007252)3.44066074
50positive regulation of membrane protein ectodomain proteolysis (GO:0051044)3.43883249
51protein localization to endosome (GO:0036010)3.42686924
52positive regulation of interferon-beta production (GO:0032728)3.40872032
53* cellular response to thyroid hormone stimulus (GO:0097067)3.40675340
54myeloid dendritic cell differentiation (GO:0043011)3.32328166
55adhesion of symbiont to host (GO:0044406)3.32136097
56apoptotic cell clearance (GO:0043277)3.31364218
57low-density lipoprotein particle clearance (GO:0034383)3.26953216
58monocyte chemotaxis (GO:0002548)3.25955371
59positive regulation of mast cell activation (GO:0033005)3.25684625
60positive regulation of macrophage cytokine production (GO:0060907)3.20590643
61phagosome maturation (GO:0090382)3.18046626
62positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610813.17119925
63granulocyte activation (GO:0036230)3.15476969
64regulation of monocyte chemotaxis (GO:0090025)3.15249245
65lipopolysaccharide-mediated signaling pathway (GO:0031663)3.13406045
66negative regulation of mast cell activation (GO:0033004)3.12994252
67negative regulation of interleukin-17 production (GO:0032700)3.12939929
68positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.11112689
69positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.09365816
70regulation of podosome assembly (GO:0071801)3.09016881
71regulation of antigen processing and presentation (GO:0002577)3.07831743
72neutrophil activation (GO:0042119)3.02573621
73positive regulation of cellular amide metabolic process (GO:0034250)3.01245208
74keratan sulfate catabolic process (GO:0042340)3.00389997
75positive regulation of leukocyte degranulation (GO:0043302)3.00387567
76regulation of cytokine secretion involved in immune response (GO:0002739)3.00291847
77NIK/NF-kappaB signaling (GO:0038061)2.97622670
78mannose metabolic process (GO:0006013)2.96748993
79cell adhesion mediated by integrin (GO:0033627)2.96470327
80positive regulation of myeloid leukocyte mediated immunity (GO:0002888)2.94525555
81fat-soluble vitamin biosynthetic process (GO:0042362)2.92143608
82regulation of mast cell degranulation (GO:0043304)2.92006512
83production of molecular mediator involved in inflammatory response (GO:0002532)2.90223689
84regulation of macrophage chemotaxis (GO:0010758)2.89647207
85regulation of macrophage cytokine production (GO:0010935)2.88796933
86myeloid dendritic cell activation (GO:0001773)2.88524445
87cellular response to arsenic-containing substance (GO:0071243)2.86637168
88positive regulation of cholesterol efflux (GO:0010875)2.84285044
89response to lipoprotein particle (GO:0055094)2.83778012
90macrophage differentiation (GO:0030225)2.82741573
91hyaluronan catabolic process (GO:0030214)2.82188718
92regulation of mast cell activation (GO:0033003)2.81666365
93positive regulation of chemokine biosynthetic process (GO:0045080)2.81637422
94cellular extravasation (GO:0045123)2.81552584
95regulation of leukocyte degranulation (GO:0043300)2.80449906
96regulation of toll-like receptor 4 signaling pathway (GO:0034143)2.79883743
97* response to thyroid hormone (GO:0097066)2.79688609
98regulation of vitamin metabolic process (GO:0030656)2.79230390
99antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.79034714
100antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.79034714
101positive regulation of bone resorption (GO:0045780)2.78334481
102positive regulation of bone remodeling (GO:0046852)2.78334481
103lymphocyte chemotaxis (GO:0048247)2.77885635
104cellular response to interferon-alpha (GO:0035457)2.77808259
105negative regulation of cytokine production involved in immune response (GO:0002719)2.77596216
106dendritic cell differentiation (GO:0097028)2.76946455
107regulation of chemokine biosynthetic process (GO:0045073)2.76109082
108regulation of mast cell activation involved in immune response (GO:0033006)2.75891768
109regulation of myeloid leukocyte mediated immunity (GO:0002886)2.75556069
110lipoprotein transport (GO:0042953)2.74900044
111regulation of membrane protein ectodomain proteolysis (GO:0051043)2.72738087
112myeloid leukocyte activation (GO:0002274)2.71612077
113negative regulation of lipid storage (GO:0010888)2.71138368
114regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.70998155
115positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.70932241
116response to interferon-alpha (GO:0035455)2.70639058
117hydrogen peroxide biosynthetic process (GO:0050665)2.70455054
118eosinophil migration (GO:0072677)2.68588013
119glycosphingolipid catabolic process (GO:0046479)2.68503295
120lysosome organization (GO:0007040)2.67707588
121lytic vacuole organization (GO:0080171)2.67707588
122positive regulation of T cell apoptotic process (GO:0070234)2.65723160
123Arp2/3 complex-mediated actin nucleation (GO:0034314)2.65101010
124regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.64606131
125negative regulation of myeloid cell apoptotic process (GO:0033033)2.64487110
126positive regulation of toll-like receptor signaling pathway (GO:0034123)2.63329993
127eosinophil chemotaxis (GO:0048245)2.63072072
128negative regulation of erythrocyte differentiation (GO:0045647)2.62366726
129cellular response to lipopolysaccharide (GO:0071222)2.61552796
130leukocyte migration involved in inflammatory response (GO:0002523)2.61511398
131B cell mediated immunity (GO:0019724)2.60315646
132peptide catabolic process (GO:0043171)2.59464630
133regulation of superoxide anion generation (GO:0032928)2.59370314
134positive regulation of mast cell activation involved in immune response (GO:0033008)2.58998678
135positive regulation of mast cell degranulation (GO:0043306)2.58998678
136neutrophil mediated immunity (GO:0002446)2.58837557
137detection of external biotic stimulus (GO:0098581)2.58164673
138glial cell migration (GO:0008347)2.57204553
139positive regulation of chemokine production (GO:0032722)2.57099208
140adenosine receptor signaling pathway (GO:0001973)2.56946981
141intracellular pH reduction (GO:0051452)2.55712980
142antigen processing and presentation of endogenous antigen (GO:0019883)2.55534711
143positive regulation of gamma-delta T cell activation (GO:0046645)2.55332430
144interferon-gamma-mediated signaling pathway (GO:0060333)2.54394373
145cellular response to molecule of bacterial origin (GO:0071219)2.53251767
146regulation of dendritic cell antigen processing and presentation (GO:0002604)2.53172574
147positive regulation of extracellular matrix organization (GO:1903055)2.52194015
148positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.51863689
149type I interferon signaling pathway (GO:0060337)2.50862593
150cellular response to type I interferon (GO:0071357)2.50862593
151L-alpha-amino acid transmembrane transport (GO:1902475)2.50648452
152germinal center formation (GO:0002467)2.48992371
153response to type I interferon (GO:0034340)2.48272581
154negative regulation of interleukin-6 production (GO:0032715)2.48209502
155neutrophil chemotaxis (GO:0030593)2.48046257

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* IRF8_21731497_ChIP-ChIP_J774_Mouse6.65866819
2IRF8_22096565_ChIP-ChIP_GC-B_Human5.71596520
3BP1_19119308_ChIP-ChIP_Hs578T_Human5.37540455
4* IRF8_27001747_Chip-Seq_BMDM_Mouse4.65788182
5* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse4.35863496
6* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse4.18893708
7* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.87295095
8NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.90355892
9MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.86534188
10IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.83186043
11MYB_21317192_ChIP-Seq_ERMYB_Mouse2.75825622
12IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.55478575
13NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.49597125
14FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.26633461
15* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.25121894
16BRD4_27068464_Chip-Seq_AML-cells_Mouse2.21541567
17PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse2.15698133
18STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.12631891
19STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.03135478
20SPI1_23127762_ChIP-Seq_K562_Human2.02472022
21THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.01150886
22EGR1_19374776_ChIP-ChIP_THP-1_Human1.91687546
23SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.84135211
24* VDR_24787735_ChIP-Seq_THP-1_Human1.78163232
25GATA2_21666600_ChIP-Seq_HMVEC_Human1.77963991
26PU_27001747_Chip-Seq_BMDM_Mouse1.76246632
27SPI1_23547873_ChIP-Seq_NB4_Human1.69983880
28STAT6_21828071_ChIP-Seq_BEAS2B_Human1.67868746
29VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.67392436
30CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.66110361
31PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.63083051
32TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.62269251
33* TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.61623408
34CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.61128547
35NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.58267486
36* STAT4_19710469_ChIP-ChIP_TH1__Mouse1.55196483
37VDR_24763502_ChIP-Seq_THP-1_Human1.53877586
38CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.53751800
39STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.53033065
40RUNX1_22412390_ChIP-Seq_EML_Mouse1.50339320
41* RARG_19884340_ChIP-ChIP_MEFs_Mouse1.42634726
42RUNX_20019798_ChIP-Seq_JUKART_Human1.40495216
43PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.39171763
44LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.38141287
45CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.37711127
46CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.37462756
47GATA1_22025678_ChIP-Seq_K562_Human1.36466534
48RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.36366036
49CDX2_19796622_ChIP-Seq_MESCs_Mouse1.32516730
50CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.30483780
51TFEB_21752829_ChIP-Seq_HELA_Human1.30076512
52* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.27657765
53TRIM28_21343339_ChIP-Seq_HEK293_Human1.26043347
54ESR1_21235772_ChIP-Seq_MCF-7_Human1.24138339
55E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.23187343
56CLOCK_20551151_ChIP-Seq_293T_Human1.23125696
57LXR_22158963_ChIP-Seq_LIVER_Mouse1.23118656
58ELK3_25401928_ChIP-Seq_HUVEC_Human1.22770840
59PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.17427465
60GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.15072038
61MAF_26560356_Chip-Seq_TH1_Human1.14329707
62KDM2B_26808549_Chip-Seq_SUP-B15_Human1.13485403
63* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.12522109
64PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.11756114
65* RXR_22158963_ChIP-Seq_LIVER_Mouse1.11564891
66CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.10648762
67* SOX2_20726797_ChIP-Seq_SW620_Human1.10318635
68KDM2B_26808549_Chip-Seq_DND41_Human1.09679636
69* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.09274965
70* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.09274965
71MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.08514448
72* MYB_26560356_Chip-Seq_TH2_Human1.08355214
73SCL_19346495_ChIP-Seq_HPC-7_Human1.08119061
74* ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.07893998
75* VDR_21846776_ChIP-Seq_THP-1_Human1.06530370
76* ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.06456209
77TCF7_22412390_ChIP-Seq_EML_Mouse1.06039756
78* GATA1_19941826_ChIP-Seq_K562_Human1.05708966
79SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.05584226
80* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.04050989
81KDM2B_26808549_Chip-Seq_K562_Human1.03750893
82TP63_17297297_ChIP-ChIP_HaCaT_Human1.03153693
83* PPARA_22158963_ChIP-Seq_LIVER_Mouse1.02999013
84SRY_22984422_ChIP-ChIP_TESTIS_Rat1.02985029
85FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.02300903
86PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.02169665
87FOXO3_23340844_ChIP-Seq_DLD1_Human1.01685666
88GATA3_26560356_Chip-Seq_TH2_Human1.01467569
89NFIB_24661679_ChIP-Seq_LUNG_Mouse1.01413075
90RACK7_27058665_Chip-Seq_MCF-7_Human1.00996135
91* LXR_22292898_ChIP-Seq_THP-1_Human1.00219933
92STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.99782408
93STAT1_20625510_ChIP-Seq_HELA_Human0.98562795
94ESR2_21235772_ChIP-Seq_MCF-7_Human0.98350155
95* SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.98319290
96* CJUN_26792858_Chip-Seq_BT549_Human0.97545744
97KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.95924812
98GATA1_22383799_ChIP-Seq_G1ME_Mouse0.95400219
99FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.94564275
100SMAD_19615063_ChIP-ChIP_OVARY_Human0.93526383
101* GATA2_19941826_ChIP-Seq_K562_Human0.92695707
102GATA3_27048872_Chip-Seq_THYMUS_Human0.91009647
103RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.90445953
104FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.90160794
105GATA1_19941827_ChIP-Seq_MEL_Mouse0.89996124
106EGR1_19032775_ChIP-ChIP_M12_Human0.89365201
107BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.88267521
108PPAR_26484153_Chip-Seq_NCI-H1993_Human0.88020366
109* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.87978238
110GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.87451474
111TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.87444987
112SALL4_18804426_ChIP-ChIP_XEN_Mouse0.87322730
113* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.86593490
114LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.85749435
115SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.85723788
116* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84638821
117BCOR_27268052_Chip-Seq_Bcells_Human0.84629110
118IKZF1_21737484_ChIP-ChIP_HCT116_Human0.84335336
119ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.83471919
120SPI1_20517297_ChIP-Seq_HL60_Human0.82769683
121KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.82649264
122GATA2_22383799_ChIP-Seq_G1ME_Mouse0.82417059

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005058_abnormal_lysosome_morphology5.93111504
2MP0003172_abnormal_lysosome_physiology4.00627390
3MP0003303_peritoneal_inflammation3.83953252
4MP0006082_CNS_inflammation3.39169070
5MP0001835_abnormal_antigen_presentation3.35602455
6MP0003436_decreased_susceptibility_to3.30527540
7MP0009840_abnormal_foam_cell3.16942898
8MP0002139_abnormal_hepatobiliary_system3.08632175
9MP0002419_abnormal_innate_immunity2.89065427
10MP0003191_abnormal_cellular_cholesterol2.65646164
11MP0003690_abnormal_glial_cell2.65536886
12MP0008438_abnormal_cutaneous_collagen2.65444291
13MP0002148_abnormal_hypersensitivity_rea2.36482421
14* MP0005000_abnormal_immune_tolerance2.30613248
15MP0005257_abnormal_intraocular_pressure2.29544017
16MP0009785_altered_susceptibility_to2.17800924
17MP0001533_abnormal_skeleton_physiology2.15539030
18MP0005387_immune_system_phenotype2.09943992
19MP0001790_abnormal_immune_system2.09943992
20MP0003300_gastrointestinal_ulcer2.07958629
21MP0005025_abnormal_response_to2.05471628
22MP0002452_abnormal_antigen_presenting1.99631956
23MP0005464_abnormal_platelet_physiology1.99531313
24MP0003724_increased_susceptibility_to1.98692289
25* MP0000604_amyloidosis1.96803044
26MP0004510_myositis1.96559374
27MP0005451_abnormal_body_composition1.93979757
28MP0000569_abnormal_digit_pigmentation1.87751178
29MP0000343_altered_response_to1.87045225
30MP0003075_altered_response_to1.79964986
31MP0002723_abnormal_immune_serum1.71546500
32MP0001800_abnormal_humoral_immune1.64885080
33MP0002998_abnormal_bone_remodeling1.61895013
34MP0004947_skin_inflammation1.61092712
35MP0003453_abnormal_keratinocyte_physiol1.58341645
36MP0003806_abnormal_nucleotide_metabolis1.56501216
37MP0000685_abnormal_immune_system1.54036427
38MP0001819_abnormal_immune_cell1.53218793
39MP0003183_abnormal_peptide_metabolism1.52077859
40MP0002420_abnormal_adaptive_immunity1.51312457
41* MP0003448_altered_tumor_morphology1.51007548
42MP0001958_emphysema1.50758984
43MP0003566_abnormal_cell_adhesion1.49493863
44MP0003705_abnormal_hypodermis_morpholog1.47777155
45MP0008469_abnormal_protein_level1.47503330
46* MP0001845_abnormal_inflammatory_respons1.46304044
47MP0005167_abnormal_blood-brain_barrier1.44260531
48MP0005166_decreased_susceptibility_to1.43121428
49MP0002877_abnormal_melanocyte_morpholog1.42264121
50MP0005671_abnormal_response_to1.39759830
51MP0004858_abnormal_nervous_system1.38244022
52MP0002405_respiratory_system_inflammati1.37845133
53MP0009764_decreased_sensitivity_to1.36346397
54MP0003279_aneurysm1.33865542
55MP0002090_abnormal_vision1.33013665
56MP0003656_abnormal_erythrocyte_physiolo1.31110093
57MP0005164_abnormal_response_to1.23434863
58MP0008004_abnormal_stomach_pH1.20016607
59MP0009278_abnormal_bone_marrow1.17426895
60MP0005365_abnormal_bile_salt1.15873268
61MP0004130_abnormal_muscle_cell1.13975549
62MP0001542_abnormal_bone_strength1.10898887
63MP0010386_abnormal_urinary_bladder1.10241462
64MP0002254_reproductive_system_inflammat1.06675045
65MP0000465_gastrointestinal_hemorrhage1.03879841
66MP0000920_abnormal_myelination1.03674401
67MP0005390_skeleton_phenotype1.03167352
68MP0001851_eye_inflammation0.99254219
69MP0000716_abnormal_immune_system0.98778113
70MP0005083_abnormal_biliary_tract0.97925533
71MP0003195_calcinosis0.97848291
72MP0002933_joint_inflammation0.97075240
73MP0000689_abnormal_spleen_morphology0.97013332
74MP0010155_abnormal_intestine_physiology0.94467083
75MP0001849_ear_inflammation0.93457277
76MP0004883_abnormal_blood_vessel0.93281295
77MP0001853_heart_inflammation0.90491521
78MP0000249_abnormal_blood_vessel0.89530168
79MP0005595_abnormal_vascular_smooth0.87611383
80* MP0003634_abnormal_glial_cell0.86655263
81MP0003091_abnormal_cell_migration0.86329964
82MP0003828_pulmonary_edema0.86248368
83MP0005275_abnormal_skin_tensile0.85859358
84MP0003329_amyloid_beta_deposits0.84414575
85MP0009333_abnormal_splenocyte_physiolog0.82828699
86MP0005197_abnormal_uvea_morphology0.82590798
87MP0002896_abnormal_bone_mineralization0.82547700
88MP0003795_abnormal_bone_structure0.82528639
89MP0004782_abnormal_surfactant_physiolog0.82258521
90MP0005174_abnormal_tail_pigmentation0.79351680
91MP0009763_increased_sensitivity_to0.79022291
92MP0010329_abnormal_lipoprotein_level0.78960097
93MP0002429_abnormal_blood_cell0.78539113
94MP0002398_abnormal_bone_marrow0.75357806
95MP0002277_abnormal_respiratory_mucosa0.74564024
96MP0000371_diluted_coat_color0.74459439
97* MP0005310_abnormal_salivary_gland0.74155685
98MP0000609_abnormal_liver_physiology0.73966425
99MP0002136_abnormal_kidney_physiology0.73768762
100* MP0000858_altered_metastatic_potential0.73575685
101MP0002722_abnormal_immune_system0.72752262
102MP0001756_abnormal_urination0.70013743
103MP0002837_dystrophic_cardiac_calcinosis0.69622725
104MP0001545_abnormal_hematopoietic_system0.69496990
105MP0005397_hematopoietic_system_phenotyp0.69496990
106MP0008260_abnormal_autophagy0.69468637
107MP0000767_abnormal_smooth_muscle0.68759412
108MP0005165_increased_susceptibility_to0.67981190
109MP0005023_abnormal_wound_healing0.67645644
110MP0002138_abnormal_hepatobiliary_system0.66650551
111MP0008874_decreased_physiological_sensi0.65516518
112MP0002166_altered_tumor_susceptibility0.62889164
113MP0003633_abnormal_nervous_system0.62839279
114MP0005647_abnormal_sex_gland0.62454187
115MP0002332_abnormal_exercise_endurance0.61816685
116MP0006054_spinal_hemorrhage0.61419843
117MP0001663_abnormal_digestive_system0.61342364
118MP0004019_abnormal_vitamin_homeostasis0.60993776
119MP0009643_abnormal_urine_homeostasis0.60940584
120MP0003186_abnormal_redox_activity0.60595677
121MP0005584_abnormal_enzyme/coenzyme_acti0.60366137
122MP0005319_abnormal_enzyme/_coenzyme0.57792164

Predicted human phenotypes

RankGene SetZ-score
1Increased cerebral lipofuscin (HP:0011813)7.71054697
2Vacuolated lymphocytes (HP:0001922)6.76321717
3Increased neuronal autofluorescent lipopigment (HP:0002074)6.54202326
4Dysostosis multiplex (HP:0000943)5.61084019
5Systemic lupus erythematosus (HP:0002725)5.60126373
6Recurrent abscess formation (HP:0002722)5.40142322
7Abnormality of glycolipid metabolism (HP:0010969)5.18414107
8Abnormality of liposaccharide metabolism (HP:0010968)5.18414107
9Abnormality of glycosphingolipid metabolism (HP:0004343)5.18414107
10Mucopolysacchariduria (HP:0008155)4.74623773
11Urinary glycosaminoglycan excretion (HP:0003541)4.74623773
12Abnormality of macrophages (HP:0004311)4.73513659
13Eczematoid dermatitis (HP:0000976)4.59656510
14Recurrent bacterial skin infections (HP:0005406)4.55616882
15Disinhibition (HP:0000734)4.53040131
16Axonal loss (HP:0003447)4.48628059
17Abnormality of mucopolysaccharide metabolism (HP:0011020)4.48062534
18Abnormality of polysaccharide metabolism (HP:0011012)4.48062534
19Abnormality of glycosaminoglycan metabolism (HP:0004371)4.48062534
20Recurrent gram-negative bacterial infections (HP:0005420)4.33634334
21Glomerulonephritis (HP:0000099)3.90382288
22Loss of speech (HP:0002371)3.84274487
23Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.79985547
24Nuclear cataract (HP:0100018)3.67660037
25Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)3.57872446
26Myocardial infarction (HP:0001658)3.24869127
27Autoimmune thrombocytopenia (HP:0001973)3.03756987
28Complement deficiency (HP:0004431)2.98861795
29Neuronal loss in central nervous system (HP:0002529)2.92231838
30Asymmetric septal hypertrophy (HP:0001670)2.89992145
31Gingivitis (HP:0000230)2.89340908
32J-shaped sella turcica (HP:0002680)2.86962882
33Upper motor neuron abnormality (HP:0002127)2.81392266
34Abnormality of the vasculature of the conjunctiva (HP:0008054)2.80456986
35Hepatosplenomegaly (HP:0001433)2.80358330
36Agnosia (HP:0010524)2.77748510
37Abnormality of complement system (HP:0005339)2.77505911
38Mutism (HP:0002300)2.76633944
39Purpura (HP:0000979)2.75661079
40Myositis (HP:0100614)2.70242313
41Chronic obstructive pulmonary disease (HP:0006510)2.65488818
42Obstructive lung disease (HP:0006536)2.65488818
43Apathy (HP:0000741)2.65427170
44Diminished motivation (HP:0000745)2.64839057
45Neurofibrillary tangles (HP:0002185)2.63598023
46Orchitis (HP:0100796)2.62625336
47Mediastinal lymphadenopathy (HP:0100721)2.59867485
48Abnormality of the lumbar spine (HP:0100712)2.56745330
49Nephritis (HP:0000123)2.54716443
50Conjunctival telangiectasia (HP:0000524)2.54582313
51Recurrent skin infections (HP:0001581)2.54368553
52Retinal atrophy (HP:0001105)2.53105847
53Metaphyseal irregularity (HP:0003025)2.52566851
54Thick nail (HP:0001805)2.46988501
55Supranuclear gaze palsy (HP:0000605)2.44777964
56Peripheral demyelination (HP:0011096)2.44356076
57Increased serum ferritin (HP:0003281)2.43439634
58Pathologic fracture (HP:0002756)2.41298811
59Global brain atrophy (HP:0002283)2.40568230
60Tetraparesis (HP:0002273)2.38272070
61Inappropriate behavior (HP:0000719)2.36105095
62Basal ganglia calcification (HP:0002135)2.34751500
63Increased CSF protein (HP:0002922)2.33135388
64Dementia (HP:0000726)2.28570372
65Thoracic kyphosis (HP:0002942)2.27838832
66Prolonged neonatal jaundice (HP:0006579)2.27625312
67Personality changes (HP:0000751)2.25560172
68Prostate neoplasm (HP:0100787)2.24003840
69Vertebral compression fractures (HP:0002953)2.23357761
70Osteolytic defects of the phalanges of the hand (HP:0009771)2.19575869
71Osteolytic defects of the hand bones (HP:0009699)2.19575869
72Progressive neurologic deterioration (HP:0002344)2.18860065
73Ovoid vertebral bodies (HP:0003300)2.16779762
74Interstitial pulmonary disease (HP:0006530)2.14598883
75Stomatitis (HP:0010280)2.14290682
76Retrobulbar optic neuritis (HP:0100654)2.13163121
77Optic neuritis (HP:0100653)2.13163121
78Spondylolisthesis (HP:0003302)2.12385835
79Pustule (HP:0200039)2.11970701
80Hematochezia (HP:0002573)2.11901933
81Progressive visual loss (HP:0000529)2.11046967
82Cerebral inclusion bodies (HP:0100314)2.09626652
83Urticaria (HP:0001025)2.08321151
84Elevated erythrocyte sedimentation rate (HP:0003565)2.05771851
85Cardiomegaly (HP:0001640)2.03978804
86Bone pain (HP:0002653)2.02684416
87Petechiae (HP:0000967)1.97682645
88Hypercholesterolemia (HP:0003124)1.97636840
89Periodontitis (HP:0000704)1.96507534
90Arterial tortuosity (HP:0005116)1.96001049
91Osteomyelitis (HP:0002754)1.95411715
92Cerebral aneurysm (HP:0004944)1.94311787
93Cellulitis (HP:0100658)1.94033623
94Cervical subluxation (HP:0003308)1.92525054
95Recurrent fungal infections (HP:0002841)1.91068441
96Xanthomatosis (HP:0000991)1.90602181
97Malnutrition (HP:0004395)1.90579998
98Abnormality of the periventricular white matter (HP:0002518)1.89851532
99Abnormality of iron homeostasis (HP:0011031)1.87491480
100Mucosal telangiectasiae (HP:0100579)1.85143293
101Nausea (HP:0002018)1.85070688
102Pulmonary infiltrates (HP:0002113)1.83955376
103Spontaneous hematomas (HP:0007420)1.81248831
104Protuberant abdomen (HP:0001538)1.78102168
105Vascular tortuosity (HP:0004948)1.77206436
106Frequent falls (HP:0002359)1.74683444
107Abnormality of the nasal mucosa (HP:0000433)1.73238200
108Deformed sella turcica (HP:0002681)1.71729492
109Clumsiness (HP:0002312)1.71037813
110Amyloidosis (HP:0011034)1.70541828
111Joint stiffness (HP:0001387)1.70345231
112Esophageal varix (HP:0002040)1.70168714
113Premature rupture of membranes (HP:0001788)1.69600448
114Bone cyst (HP:0012062)1.69152199
115Polyneuropathy (HP:0001271)1.67086613
116Thin bony cortex (HP:0002753)1.62724617
117Hemoptysis (HP:0002105)1.61949307
118Beaking of vertebral bodies (HP:0004568)1.60035712
119Premature loss of primary teeth (HP:0006323)1.59899012
120Acrocyanosis (HP:0001063)1.59005011
121Neoplasm of head and neck (HP:0012288)1.58044592
122Esophageal neoplasm (HP:0100751)1.58044592

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BLK3.50883166
2KIT3.46077355
3RIPK43.42953459
4TBK13.32271459
5ERN13.10096772
6DDR23.09509964
7TGFBR22.94100514
8TYK22.89748238
9TRIB32.58199177
10MAP3K142.49901522
11TAOK22.29906920
12IRAK42.10208947
13JAK11.99246116
14IRAK31.97912488
15NEK91.97654837
16SCYL21.87485122
17PRPF4B1.84015718
18CAMK1D1.82527370
19CSF1R1.78195621
20TTN1.76729748
21CDC42BPA1.72533930
22ACVR1B1.68830156
23PKN21.68317648
24TAOK31.61333148
25TAOK11.61301166
26IKBKE1.60342984
27CAMKK21.58691426
28EPHB11.56724780
29MAP4K11.54355952
30FES1.53466395
31HCK1.43111212
32ZAP701.42487473
33RIPK11.42205729
34FGR1.37364488
35IKBKB1.37234033
36CSK1.34751880
37SYK1.32280456
38JAK21.32042751
39PBK1.31812955
40PIM21.29743479
41JAK31.26380456
42MAP2K31.24120968
43NME21.22388577
44CAMK1G1.18831419
45CAMKK11.16613182
46LIMK11.16350757
47ADRBK21.15628542
48BMX1.13520089
49MAP3K31.11418696
50MAP3K131.09718849
51LYN1.06976907
52MATK1.02398588
53PTK61.01506653
54LCK0.99393291
55ABL20.94635806
56EPHB20.93965794
57MOS0.93779083
58PAK40.93558821
59STK100.92799200
60EGFR0.91670275
61GRK70.90658750
62KSR20.87830634
63LRRK20.86937940
64TRPM70.86731799
65PDK20.83579494
66TGFBR10.82598515
67FGFR40.80929987
68TESK10.80599185
69ITK0.75343260
70FGFR30.73845980
71PRKCD0.73664150
72BTK0.69291438
73PLK20.69237949
74DAPK20.68422629
75ARAF0.68251419
76PRKCH0.67549276
77FYN0.66440329
78ICK0.65770624
79MAP3K110.65596032
80PDPK10.65564482
81LATS20.65358233
82ABL10.64760842
83MAP3K10.64690275
84TYRO30.64376181
85SIK10.61362508
86MAP3K20.61053997
87RPS6KL10.58154200
88RPS6KC10.58154200
89MAP2K60.57019819
90CHUK0.55575520
91PDGFRB0.54854215
92IRAK20.54832263
93PDK10.53933117
94CDK60.53671980
95KDR0.53493461
96NTRK10.52009745
97PTK2B0.51205906
98TXK0.50895796
99MARK30.50084704
100SIK20.50025679
101PIK3CG0.49835350
102EPHA30.49730448
103IGF1R0.49443173
104SRC0.49178551
105RET0.48236402
106RPS6KA20.46688085
107RPS6KA40.45849422
108DAPK30.45116273
109MAPK40.44020409
110RPS6KA60.42738636
111MAP3K90.41981958
112GRK60.41538918
113MAP3K50.41234347
114BMPR20.40390369
115GSK3A0.39556466
116MAPK70.38752872
117PDGFRA0.38312299
118SGK30.38015167
119TEC0.37380693
120TESK20.36471445
121SIK30.36460972
122PRKG20.35183310
123MAPKAPK20.32531699
124MAP3K80.30086906
125PRKD20.29725998
126MAP3K60.29544073
127IRAK10.28433390
128MAPK120.28015220

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosaminoglycan degradation_Homo sapiens_hsa005314.50738943
2* Lysosome_Homo sapiens_hsa041424.22532974
3Staphylococcus aureus infection_Homo sapiens_hsa051503.85908852
4Other glycan degradation_Homo sapiens_hsa005113.21770524
5Leishmaniasis_Homo sapiens_hsa051402.69611404
6Phagosome_Homo sapiens_hsa041452.49266872
7Osteoclast differentiation_Homo sapiens_hsa043802.38894740
8Toll-like receptor signaling pathway_Homo sapiens_hsa046202.31702005
9Tuberculosis_Homo sapiens_hsa051522.26039332
10Pertussis_Homo sapiens_hsa051332.19517112
11Rheumatoid arthritis_Homo sapiens_hsa053232.09803375
12Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.00189764
13Malaria_Homo sapiens_hsa051441.93512582
14Collecting duct acid secretion_Homo sapiens_hsa049661.70599671
15Autoimmune thyroid disease_Homo sapiens_hsa053201.65968441
16Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.60306346
17Legionellosis_Homo sapiens_hsa051341.60117327
18Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.58011143
19Complement and coagulation cascades_Homo sapiens_hsa046101.49090746
20B cell receptor signaling pathway_Homo sapiens_hsa046621.42178748
21Salmonella infection_Homo sapiens_hsa051321.42085644
22Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.41280298
23Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.39434321
24NF-kappa B signaling pathway_Homo sapiens_hsa040641.34501256
25Toxoplasmosis_Homo sapiens_hsa051451.28104787
26Caffeine metabolism_Homo sapiens_hsa002321.27138848
27Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.22686452
28Measles_Homo sapiens_hsa051621.18012345
29Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.17427011
30Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.11930742
31Influenza A_Homo sapiens_hsa051641.11720212
32Shigellosis_Homo sapiens_hsa051311.07575667
33Bladder cancer_Homo sapiens_hsa052191.06954996
34Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.05258409
35Sphingolipid metabolism_Homo sapiens_hsa006001.04591012
36Amoebiasis_Homo sapiens_hsa051461.02656207
37* Apoptosis_Homo sapiens_hsa042101.00898203
38TNF signaling pathway_Homo sapiens_hsa046680.99021898
39* Antigen processing and presentation_Homo sapiens_hsa046120.97433768
40Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.96618173
41RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.94410259
42NOD-like receptor signaling pathway_Homo sapiens_hsa046210.91805580
43Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.91789049
44Vibrio cholerae infection_Homo sapiens_hsa051100.90048350
45Chemokine signaling pathway_Homo sapiens_hsa040620.89539161
46Prion diseases_Homo sapiens_hsa050200.88498005
47Synaptic vesicle cycle_Homo sapiens_hsa047210.85340026
48Leukocyte transendothelial migration_Homo sapiens_hsa046700.83792603
49Pentose and glucuronate interconversions_Homo sapiens_hsa000400.82657012
50Endocytosis_Homo sapiens_hsa041440.82554776
51Steroid biosynthesis_Homo sapiens_hsa001000.82150623
52Asthma_Homo sapiens_hsa053100.80870867
53AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.80202787
54Hepatitis C_Homo sapiens_hsa051600.78924701
55Graft-versus-host disease_Homo sapiens_hsa053320.77056428
56Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.76991294
57Hematopoietic cell lineage_Homo sapiens_hsa046400.76565265
58Mineral absorption_Homo sapiens_hsa049780.73921808
59Hepatitis B_Homo sapiens_hsa051610.72268338
60Renin-angiotensin system_Homo sapiens_hsa046140.71737872
61Pancreatic cancer_Homo sapiens_hsa052120.71354388
62Chronic myeloid leukemia_Homo sapiens_hsa052200.69176624
63Primary bile acid biosynthesis_Homo sapiens_hsa001200.68542152
64Sphingolipid signaling pathway_Homo sapiens_hsa040710.68478603
65African trypanosomiasis_Homo sapiens_hsa051430.65531514
66Sulfur metabolism_Homo sapiens_hsa009200.62430713
67Viral myocarditis_Homo sapiens_hsa054160.62316640
68Neurotrophin signaling pathway_Homo sapiens_hsa047220.60832186
69Allograft rejection_Homo sapiens_hsa053300.60527838
70Jak-STAT signaling pathway_Homo sapiens_hsa046300.59564183
71Platelet activation_Homo sapiens_hsa046110.59215987
72Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.58356114
73Adipocytokine signaling pathway_Homo sapiens_hsa049200.57151551
74Intestinal immune network for IgA production_Homo sapiens_hsa046720.56795123
75Proteoglycans in cancer_Homo sapiens_hsa052050.56464166
76Type II diabetes mellitus_Homo sapiens_hsa049300.54526513
77Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.54081617
78PPAR signaling pathway_Homo sapiens_hsa033200.52350398
79Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.52005433
80HIF-1 signaling pathway_Homo sapiens_hsa040660.51821543
81Galactose metabolism_Homo sapiens_hsa000520.51515385
82Regulation of actin cytoskeleton_Homo sapiens_hsa048100.50590782
83Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.49084319
84Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.49019367
85Carbohydrate digestion and absorption_Homo sapiens_hsa049730.47244080
86Fructose and mannose metabolism_Homo sapiens_hsa000510.44545571
87Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.42465379
88Acute myeloid leukemia_Homo sapiens_hsa052210.41755282
89VEGF signaling pathway_Homo sapiens_hsa043700.40212849
90Prolactin signaling pathway_Homo sapiens_hsa049170.37067454
91Focal adhesion_Homo sapiens_hsa045100.36179496
92Herpes simplex infection_Homo sapiens_hsa051680.34795251
93Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.34415860
94Renal cell carcinoma_Homo sapiens_hsa052110.33573461
95Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.33177648
96Glutathione metabolism_Homo sapiens_hsa004800.32754568
97Starch and sucrose metabolism_Homo sapiens_hsa005000.32676266
98Insulin resistance_Homo sapiens_hsa049310.31701307
99Glioma_Homo sapiens_hsa052140.31305407
100Nitrogen metabolism_Homo sapiens_hsa009100.31242019
101Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.30953938
102Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.30309405
103Epstein-Barr virus infection_Homo sapiens_hsa051690.29724479
104T cell receptor signaling pathway_Homo sapiens_hsa046600.29399029
105Phospholipase D signaling pathway_Homo sapiens_hsa040720.29138548
106GnRH signaling pathway_Homo sapiens_hsa049120.27488193
107Notch signaling pathway_Homo sapiens_hsa043300.27130953
108SNARE interactions in vesicular transport_Homo sapiens_hsa041300.24138191
109Pentose phosphate pathway_Homo sapiens_hsa000300.23870903
110Type I diabetes mellitus_Homo sapiens_hsa049400.23349139
111HTLV-I infection_Homo sapiens_hsa051660.20884133
112Glycerolipid metabolism_Homo sapiens_hsa005610.20262601
113ABC transporters_Homo sapiens_hsa020100.20095203

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