ATP6V0E1

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 component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neutrophil activation involved in immune response (GO:0002283)4.14155753
2mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.68137649
3proteasome assembly (GO:0043248)3.50747950
4antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.45530765
5antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.39282587
6cellular response to zinc ion (GO:0071294)3.35954893
7immunoglobulin mediated immune response (GO:0016064)3.34690862
8protein maturation by protein folding (GO:0022417)3.31465667
9protein neddylation (GO:0045116)3.13935710
10platelet dense granule organization (GO:0060155)3.10130039
11ATP synthesis coupled proton transport (GO:0015986)3.09319675
12energy coupled proton transport, down electrochemical gradient (GO:0015985)3.09319675
13response to interferon-beta (GO:0035456)3.08973995
14regulation of cellular amino acid metabolic process (GO:0006521)3.05027104
15respiratory electron transport chain (GO:0022904)3.02836318
16antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.01090252
17negative regulation of inflammatory response to antigenic stimulus (GO:0002862)3.00665817
18electron transport chain (GO:0022900)2.97408203
19eosinophil chemotaxis (GO:0048245)2.97343205
20antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)2.97221892
21mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.94817315
22regulation of metalloenzyme activity (GO:0048552)2.90560595
23positive regulation of monocyte chemotaxis (GO:0090026)2.82753621
24regulation of mononuclear cell migration (GO:0071675)2.76337009
25B cell mediated immunity (GO:0019724)2.76182300
26amino sugar catabolic process (GO:0046348)2.75468606
27membrane raft organization (GO:0031579)2.71149222
28regulation of integrin-mediated signaling pathway (GO:2001044)2.70598420
29regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.69794349
30granulocyte activation (GO:0036230)2.69652260
31DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.68041935
32eosinophil migration (GO:0072677)2.64288387
33oligosaccharide catabolic process (GO:0009313)2.63634237
34neutrophil activation (GO:0042119)2.63395440
35negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.60968351
36protein complex biogenesis (GO:0070271)2.59073439
37positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.56511335
38signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.54921217
39intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.54921217
40negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.53800738
41keratan sulfate catabolic process (GO:0042340)2.51846634
42establishment of protein localization to mitochondrial membrane (GO:0090151)2.51248831
43signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.50129923
44signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.50129923
45signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.50129923
46interferon-gamma-mediated signaling pathway (GO:0060333)2.49973151
47cytochrome complex assembly (GO:0017004)2.48495024
48negative regulation of nitric oxide biosynthetic process (GO:0045019)2.46242111
49negative regulation of ligase activity (GO:0051352)2.45085128
50negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.45085128
51glycosphingolipid catabolic process (GO:0046479)2.43140166
52type I interferon signaling pathway (GO:0060337)2.43128044
53cellular response to type I interferon (GO:0071357)2.43128044
54negative regulation of interleukin-12 production (GO:0032695)2.42404697
55regulation of inflammatory response to antigenic stimulus (GO:0002861)2.39700309
56chaperone-mediated protein transport (GO:0072321)2.39370551
57negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.38795315
58cytidine metabolic process (GO:0046087)2.38696971
59cytidine catabolic process (GO:0006216)2.38696971
60cytidine deamination (GO:0009972)2.38696971
61xenobiotic catabolic process (GO:0042178)2.38522496
62response to peptidoglycan (GO:0032494)2.37215765
63DNA deamination (GO:0045006)2.36988866
64* phagosome maturation (GO:0090382)2.36906094
65response to type I interferon (GO:0034340)2.36822110
66signal transduction involved in DNA integrity checkpoint (GO:0072401)2.35277910
67signal transduction involved in DNA damage checkpoint (GO:0072422)2.35277910
68autophagic vacuole fusion (GO:0000046)2.34636064
69lymphocyte chemotaxis (GO:0048247)2.30062380
70respiratory chain complex IV assembly (GO:0008535)2.29171978
71signal peptide processing (GO:0006465)2.28971591
72regulation of interleukin-8 secretion (GO:2000482)2.28554862
73positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610812.28189897
74positive regulation of T cell mediated cytotoxicity (GO:0001916)2.27946815
75regulation of monocyte chemotaxis (GO:0090025)2.27152596
76Arp2/3 complex-mediated actin nucleation (GO:0034314)2.27043893
77glycolipid catabolic process (GO:0019377)2.26887697
78signal transduction involved in cell cycle checkpoint (GO:0072395)2.26644003
79regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.26578011
80lipoxygenase pathway (GO:0019372)2.26391974
81mitochondrial respiratory chain complex assembly (GO:0033108)2.26160396
82positive regulation of interleukin-8 secretion (GO:2000484)2.26105838
83organelle membrane fusion (GO:0090174)2.20159245
84regulation of cellular amine metabolic process (GO:0033238)2.19723705
85regulation of T cell tolerance induction (GO:0002664)2.17940550
86* hydrogen ion transmembrane transport (GO:1902600)2.17682147
87response to interferon-gamma (GO:0034341)2.17645614
88cellular response to cadmium ion (GO:0071276)2.16042623
89regulation of oxidative phosphorylation (GO:0002082)2.15843392
90phagocytosis, engulfment (GO:0006911)2.14989874
91myeloid cell activation involved in immune response (GO:0002275)2.14788775
92regulation of T cell migration (GO:2000404)2.14760587
93regulation of antigen processing and presentation (GO:0002577)2.13790707
94positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.13122245
95regulation of T cell mediated cytotoxicity (GO:0001914)2.12666486
96antigen processing and presentation of endogenous antigen (GO:0019883)2.12134725
97positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.11813381
98glucosamine-containing compound catabolic process (GO:1901072)2.10723114
99macrophage chemotaxis (GO:0048246)2.10410909
100antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.10084115

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human4.21119580
2IRF8_21731497_ChIP-ChIP_J774_Mouse3.54719311
3BP1_19119308_ChIP-ChIP_Hs578T_Human3.12876035
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.07002862
5ELF1_17652178_ChIP-ChIP_JURKAT_Human2.89656070
6SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.84960071
7IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.81634019
8KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.81557990
9NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.64043444
10FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.57609019
11IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.47104911
12CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.39277812
13FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.36433561
14EST1_17652178_ChIP-ChIP_JURKAT_Human2.34323399
15JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.25078866
16IRF8_27001747_Chip-Seq_BMDM_Mouse2.18879810
17NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.10679214
18NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.06859215
19RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.01522374
20SPI1_23547873_ChIP-Seq_NB4_Human1.97257629
21FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.97141952
22SRF_21415370_ChIP-Seq_HL-1_Mouse1.96258452
23SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.94563864
24MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.90789330
25TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.89543432
26STAT4_19710469_ChIP-ChIP_TH1__Mouse1.86291227
27SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.86166503
28SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.85347753
29MYB_21317192_ChIP-Seq_ERMYB_Mouse1.79603852
30Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.77837863
31* TFEB_21752829_ChIP-Seq_HELA_Human1.76461343
32CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.74489602
33LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.73703704
34ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.73081361
35RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.64761887
36ELK1_19687146_ChIP-ChIP_HELA_Human1.59018155
37EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.56502773
38ETS1_20019798_ChIP-Seq_JURKAT_Human1.56211278
39STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.54179080
40HOXB4_20404135_ChIP-ChIP_EML_Mouse1.54153637
41VDR_23849224_ChIP-Seq_CD4+_Human1.52088905
42CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.51637636
43STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.51528487
44HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.48781515
45SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.45281414
46PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.42151981
47CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.42104461
48PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.39983825
49EGR1_23403033_ChIP-Seq_LIVER_Mouse1.37903816
50ELK1_22589737_ChIP-Seq_MCF10A_Human1.34478973
51LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.33018559
52* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.30154358
53CREB1_15753290_ChIP-ChIP_HEK293T_Human1.29726319
54ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.29499748
55TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.28456591
56STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.28089316
57RARG_19884340_ChIP-ChIP_MEFs_Mouse1.26433160
58CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.26034209
59CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.25779088
60SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.23647229
61MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.23036744
62* GATA2_21666600_ChIP-Seq_HMVEC_Human1.21405779
63* GATA3_26560356_Chip-Seq_TH2_Human1.20484094
64SOX2_20726797_ChIP-Seq_SW620_Human1.20170020
65DCP1A_22483619_ChIP-Seq_HELA_Human1.20085870
66CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.17399318
67TRIM28_21343339_ChIP-Seq_HEK293_Human1.16096028
68SPI1_23127762_ChIP-Seq_K562_Human1.15249843
69FOXP3_21729870_ChIP-Seq_TREG_Human1.14511501
70PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.14377823
71CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.13919860
72RXR_22158963_ChIP-Seq_LIVER_Mouse1.13532020
73GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.12067059
74* MYB_26560356_Chip-Seq_TH2_Human1.11889353
75E2F1_18555785_ChIP-Seq_MESCs_Mouse1.09412955
76E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.08615885
77SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.08269927
78JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.08074915
79BRD4_27068464_Chip-Seq_AML-cells_Mouse1.07836433
80HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.07342133
81ELF5_23300383_ChIP-Seq_T47D_Human1.06796185
82* STAT1_20625510_ChIP-Seq_HELA_Human1.05667676
83JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.05480325
84PPARA_22158963_ChIP-Seq_LIVER_Mouse1.01516590
85TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.01514163
86CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.99345300
87FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.98586199
88RUNX1_22412390_ChIP-Seq_EML_Mouse0.98116843
89HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.96863037
90SMAD_19615063_ChIP-ChIP_OVARY_Human0.94542471
91PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.92608320
92PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.92595893
93CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.92402332
94CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.91733864
95PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.90935980
96ERG_20887958_ChIP-Seq_HPC-7_Mouse0.90108337
97AR_20517297_ChIP-Seq_VCAP_Human0.89494816
98FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88720852
99VDR_24787735_ChIP-Seq_THP-1_Human0.86999419
100PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.86642084

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis3.52692490
2MP0001835_abnormal_antigen_presentation3.26564528
3MP0005058_abnormal_lysosome_morphology3.14933260
4MP0002148_abnormal_hypersensitivity_rea2.80360594
5MP0009785_altered_susceptibility_to2.77998217
6MP0003724_increased_susceptibility_to2.70758466
7MP0006082_CNS_inflammation2.68451335
8MP0005464_abnormal_platelet_physiology2.60756735
9MP0005671_abnormal_response_to2.56707956
10MP0003191_abnormal_cellular_cholesterol2.53092482
11MP0000685_abnormal_immune_system2.27673432
12MP0009840_abnormal_foam_cell2.23765511
13MP0003436_decreased_susceptibility_to2.21285514
14MP0003186_abnormal_redox_activity2.18178587
15MP0005000_abnormal_immune_tolerance2.15473628
16MP0000343_altered_response_to2.12128227
17MP0002419_abnormal_innate_immunity2.08165429
18MP0005387_immune_system_phenotype2.03075359
19MP0001790_abnormal_immune_system2.03075359
20MP0003172_abnormal_lysosome_physiology1.99800494
21MP0006054_spinal_hemorrhage1.99381292
22MP0005025_abnormal_response_to1.98025352
23MP0003950_abnormal_plasma_membrane1.85696090
24MP0002452_abnormal_antigen_presenting1.82288288
25MP0001853_heart_inflammation1.79268245
26MP0008438_abnormal_cutaneous_collagen1.77759744
27MP0003075_altered_response_to1.75334042
28MP0001533_abnormal_skeleton_physiology1.73682586
29MP0002723_abnormal_immune_serum1.73405538
30MP0003303_peritoneal_inflammation1.72832717
31MP0001845_abnormal_inflammatory_respons1.72155060
32MP0001800_abnormal_humoral_immune1.69934257
33MP0002139_abnormal_hepatobiliary_system1.69919003
34MP0009764_decreased_sensitivity_to1.65155967
35MP0001542_abnormal_bone_strength1.60452176
36MP0009333_abnormal_splenocyte_physiolog1.59881236
37MP0008469_abnormal_protein_level1.53959455
38MP0002420_abnormal_adaptive_immunity1.52061591
39MP0001819_abnormal_immune_cell1.52016499
40MP0010155_abnormal_intestine_physiology1.44425756
41MP0003195_calcinosis1.44171833
42MP0010386_abnormal_urinary_bladder1.39547676
43MP0005165_increased_susceptibility_to1.38123775
44MP0003300_gastrointestinal_ulcer1.32960119
45MP0005408_hypopigmentation1.32087849
46MP0006036_abnormal_mitochondrial_physio1.31146195
47MP0008004_abnormal_stomach_pH1.30168386
48MP0000858_altered_metastatic_potential1.28593854
49MP0002405_respiratory_system_inflammati1.27858675
50MP0005365_abnormal_bile_salt1.22959726
51MP0003279_aneurysm1.18938765
52MP0002277_abnormal_respiratory_mucosa1.18120918
53MP0005075_abnormal_melanosome_morpholog1.17785353
54MP0005164_abnormal_response_to1.17734583
55MP0003011_delayed_dark_adaptation1.16720245
56MP0004510_myositis1.12340775
57MP0002138_abnormal_hepatobiliary_system1.11407859
58MP0003448_altered_tumor_morphology1.08517311
59MP0002254_reproductive_system_inflammat1.06982773
60MP0002998_abnormal_bone_remodeling1.03928678
61MP0005166_decreased_susceptibility_to1.03521291
62MP0000716_abnormal_immune_system1.02484996
63MP0009763_increased_sensitivity_to1.02142943
64MP0002295_abnormal_pulmonary_circulatio1.01522704
65MP0002837_dystrophic_cardiac_calcinosis1.01428087
66MP0004947_skin_inflammation1.01172644
67MP0005084_abnormal_gallbladder_morpholo1.00349146
68MP0001756_abnormal_urination0.99910095
69MP0000604_amyloidosis0.99255991
70MP0008875_abnormal_xenobiotic_pharmacok0.98982996
71MP0000372_irregular_coat_pigmentation0.98144152
72MP0001958_emphysema0.97361612
73MP0002877_abnormal_melanocyte_morpholog0.96684029
74MP0005023_abnormal_wound_healing0.96520503
75MP0009643_abnormal_urine_homeostasis0.96413175
76MP0004019_abnormal_vitamin_homeostasis0.95679683
77MP0005319_abnormal_enzyme/_coenzyme0.95664267
78MP0000015_abnormal_ear_pigmentation0.94294059
79MP0003866_abnormal_defecation0.94108306
80MP0005360_urolithiasis0.93770273
81MP0004883_abnormal_blood_vessel0.93351094
82MP0002132_abnormal_respiratory_system0.90792167
83MP0005390_skeleton_phenotype0.89819443
84MP0005332_abnormal_amino_acid0.86070985
85MP0000689_abnormal_spleen_morphology0.85973035
86MP0002429_abnormal_blood_cell0.84957303
87MP0002398_abnormal_bone_marrow0.84454790
88MP0000465_gastrointestinal_hemorrhage0.83395666
89MP0005584_abnormal_enzyme/coenzyme_acti0.82966330
90MP0005310_abnormal_salivary_gland0.82689371
91MP0003795_abnormal_bone_structure0.82203419
92MP0002693_abnormal_pancreas_physiology0.80677435
93MP0002166_altered_tumor_susceptibility0.80300744
94MP0009780_abnormal_chondrocyte_physiolo0.79844859
95MP0005174_abnormal_tail_pigmentation0.79168872
96MP0008260_abnormal_autophagy0.78388671
97MP0002876_abnormal_thyroid_physiology0.78270704
98MP0005085_abnormal_gallbladder_physiolo0.77873980
99MP0005379_endocrine/exocrine_gland_phen0.74362417
100MP0002136_abnormal_kidney_physiology0.74044396

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of glycolipid metabolism (HP:0010969)4.97192546
2Abnormality of liposaccharide metabolism (HP:0010968)4.97192546
3Abnormality of glycosphingolipid metabolism (HP:0004343)4.97192546
4Vacuolated lymphocytes (HP:0001922)4.47426834
5Petechiae (HP:0000967)3.77761556
6Abnormality of macrophages (HP:0004311)3.73701000
7Acute necrotizing encephalopathy (HP:0006965)3.35539496
8Dysostosis multiplex (HP:0000943)3.24234714
9Mitochondrial inheritance (HP:0001427)3.23477544
10Abnormal mitochondria in muscle tissue (HP:0008316)3.08095267
11Systemic lupus erythematosus (HP:0002725)3.00948332
12Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.97558891
13Decreased activity of mitochondrial respiratory chain (HP:0008972)2.97558891
14Progressive macrocephaly (HP:0004481)2.96178176
15Hepatic necrosis (HP:0002605)2.90831289
16Hepatocellular necrosis (HP:0001404)2.89836245
17Recurrent abscess formation (HP:0002722)2.89266767
18Purpura (HP:0000979)2.87556645
19Increased CSF lactate (HP:0002490)2.86264550
20Acute encephalopathy (HP:0006846)2.81122171
21Renal Fanconi syndrome (HP:0001994)2.79656347
22Recurrent bacterial skin infections (HP:0005406)2.77915908
233-Methylglutaconic aciduria (HP:0003535)2.76893599
24Loss of speech (HP:0002371)2.76777080
25Stomatitis (HP:0010280)2.75710707
26Hepatosplenomegaly (HP:0001433)2.61736207
27Progressive neurologic deterioration (HP:0002344)2.57425503
28Abnormality of polysaccharide metabolism (HP:0011012)2.51890853
29Abnormality of glycosaminoglycan metabolism (HP:0004371)2.51890853
30Abnormality of mucopolysaccharide metabolism (HP:0011020)2.51890853
31Exertional dyspnea (HP:0002875)2.51755638
32Mucopolysacchariduria (HP:0008155)2.42346420
33Urinary glycosaminoglycan excretion (HP:0003541)2.42346420
34Elevated erythrocyte sedimentation rate (HP:0003565)2.41438941
35Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.40247376
36Increased hepatocellular lipid droplets (HP:0006565)2.35447296
37Abnormality of aromatic amino acid family metabolism (HP:0004338)2.34761833
38Chronic obstructive pulmonary disease (HP:0006510)2.34185562
39Obstructive lung disease (HP:0006536)2.34185562
40Vertebral compression fractures (HP:0002953)2.33154693
41Increased cerebral lipofuscin (HP:0011813)2.29432306
42Generalized aminoaciduria (HP:0002909)2.26848371
43Respiratory failure (HP:0002878)2.26521569
44Increased IgM level (HP:0003496)2.24788136
45Eczematoid dermatitis (HP:0000976)2.24680675
46Pulmonary infiltrates (HP:0002113)2.20857905
47Increased serum ferritin (HP:0003281)2.16489647
48Prolonged neonatal jaundice (HP:0006579)2.15976174
49Albinism (HP:0001022)2.15934028
50Tongue fasciculations (HP:0001308)2.15680387
51Lipid accumulation in hepatocytes (HP:0006561)2.15569394
52Recurrent skin infections (HP:0001581)2.13940654
53Increased intramyocellular lipid droplets (HP:0012240)2.13104764
54Myositis (HP:0100614)2.12237776
55Gingival bleeding (HP:0000225)2.09391063
56Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.07039906
57Type I transferrin isoform profile (HP:0003642)2.06932869
58Aplastic anemia (HP:0001915)2.06808368
59Epistaxis (HP:0000421)2.06757054
60Nausea (HP:0002018)2.06547230
61Hypokinesia (HP:0002375)2.06253527
62Prolonged bleeding time (HP:0003010)2.04743300
63Cerebral edema (HP:0002181)2.04360627
64Increased neuronal autofluorescent lipopigment (HP:0002074)2.03609752
65Muscle fibrillation (HP:0010546)2.01639957
66Congenital, generalized hypertrichosis (HP:0004540)2.01111451
67Abnormality of iron homeostasis (HP:0011031)1.99950341
68Pulmonary fibrosis (HP:0002206)1.97035393
69Orchitis (HP:0100796)1.95761973
70Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.93299091
71Vascular calcification (HP:0004934)1.92199311
72Increased muscle lipid content (HP:0009058)1.90980355
73Recurrent cutaneous fungal infections (HP:0011370)1.90631681
74Chronic mucocutaneous candidiasis (HP:0002728)1.90631681
75Congenital ichthyosiform erythroderma (HP:0007431)1.89892726
76Hemoptysis (HP:0002105)1.89303024
77Cardiovascular calcification (HP:0011915)1.87102065
78Lactic acidosis (HP:0003128)1.87044660
79Rough bone trabeculation (HP:0100670)1.86082047
80Oral leukoplakia (HP:0002745)1.85679731
81Hypergammaglobulinemia (HP:0010702)1.85071797
82Increased CSF protein (HP:0002922)1.84611299
83Abnormality of renal resorption (HP:0011038)1.82538188
84Recurrent gram-negative bacterial infections (HP:0005420)1.81159373
85Mucosal telangiectasiae (HP:0100579)1.80555376
86Bone cyst (HP:0012062)1.79666271
87Recurrent fungal infections (HP:0002841)1.78987640
88Pustule (HP:0200039)1.78944347
89Urticaria (HP:0001025)1.78801397
90Axonal loss (HP:0003447)1.78136721
91Nuclear cataract (HP:0100018)1.77637024
92Retrobulbar optic neuritis (HP:0100654)1.77202451
93Optic neuritis (HP:0100653)1.77202451
94Abnormality of transition element cation homeostasis (HP:0011030)1.74757346
95Vasculitis (HP:0002633)1.74056585
96Anorexia (HP:0002039)1.72194727
97Basal ganglia calcification (HP:0002135)1.72073611
98Polyneuropathy (HP:0001271)1.70302097
99Abnormality of the vasculature of the conjunctiva (HP:0008054)1.69612323
100Abnormal glycosylation (HP:0012345)1.69169400

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST44.02963251
2MAP3K123.97550047
3MYLK3.41021950
4NME22.81568670
5TESK12.70770431
6STK162.37199151
7VRK22.24359198
8LIMK12.14282864
9TXK2.11651701
10BMPR21.94542692
11TYK21.90688717
12MAP3K31.89326092
13IRAK31.85229964
14TESK21.81693396
15PIM21.76326675
16RIPK41.73632355
17PAK41.70801986
18GRK71.67593354
19BLK1.62990120
20EIF2AK11.62956565
21ABL21.61426141
22ILK1.60631649
23TBK11.59022703
24TGFBR21.58281559
25IKBKB1.51937195
26MAPKAPK31.44337517
27PDK21.32310541
28ZAP701.31998951
29SCYL21.30659705
30CSK1.24343221
31KDR1.19453853
32MAP4K11.19262352
33KIT1.18221841
34ERN11.17868917
35ADRBK21.17365030
36BCKDK1.17361060
37BMPR1B1.13604362
38EIF2AK31.11716099
39IKBKE1.09252137
40CSF1R1.07683067
41ARAF1.04104628
42JAK31.02821598
43DAPK31.01439055
44TEC0.99423234
45TAOK30.98980535
46GRK10.96360120
47IRAK40.94561628
48MAP4K20.91402888
49GRK60.89010354
50MAP3K140.88290011
51TRPM70.88168708
52LYN0.87821334
53SYK0.85700099
54TAOK20.82340743
55FRK0.81921771
56PTK2B0.80148368
57FES0.79272917
58TLK10.79047656
59STK100.77627878
60JAK10.76874388
61MAP2K30.76673283
62DAPK10.76632260
63PIK3CG0.74535247
64PBK0.73473939
65CDK80.68762251
66LRRK20.68563050
67MAP3K110.66124262
68MATK0.64954472
69FGR0.63088817
70DDR20.62856054
71STK240.62251587
72MST1R0.62221261
73ACVR1B0.61491693
74EPHA20.60720986
75BTK0.60509453
76FER0.60113428
77LCK0.58402966
78ITK0.57361297
79PRKG20.57160078
80NUAK10.56692609
81ADRBK10.55917797
82PAK10.55440601
83LMTK20.54521989
84GRK50.54005384
85HCK0.53443801
86VRK10.53144132
87MOS0.51837471
88BMX0.49615026
89PRKCD0.47743154
90ABL10.47477204
91TNK20.47339276
92TGFBR10.45859145
93ERBB30.44571450
94MUSK0.43496686
95ROCK10.43097471
96PRKCI0.42586285
97MAPKAPK20.42443074
98EPHB10.40459577
99NEK90.39595045
100CAMKK20.38460720

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.96815510
2* Oxidative phosphorylation_Homo sapiens_hsa001903.27546358
3Allograft rejection_Homo sapiens_hsa053302.73900558
4Asthma_Homo sapiens_hsa053102.71899139
5Autoimmune thyroid disease_Homo sapiens_hsa053202.67228033
6Graft-versus-host disease_Homo sapiens_hsa053322.48409029
7Parkinsons disease_Homo sapiens_hsa050122.41192022
8Protein export_Homo sapiens_hsa030602.39177949
9Other glycan degradation_Homo sapiens_hsa005112.39122346
10Type I diabetes mellitus_Homo sapiens_hsa049402.36713302
11* Rheumatoid arthritis_Homo sapiens_hsa053232.32070218
12Sulfur metabolism_Homo sapiens_hsa009202.24711363
13Staphylococcus aureus infection_Homo sapiens_hsa051502.23634672
14Lysosome_Homo sapiens_hsa041422.19486039
15Intestinal immune network for IgA production_Homo sapiens_hsa046722.06296101
16Glycosaminoglycan degradation_Homo sapiens_hsa005312.06128617
17Antigen processing and presentation_Homo sapiens_hsa046121.85535633
18Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.85219007
19Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.77961782
20SNARE interactions in vesicular transport_Homo sapiens_hsa041301.73608188
21Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.71961536
22Alzheimers disease_Homo sapiens_hsa050101.65278918
23Ribosome_Homo sapiens_hsa030101.61980346
24Glutathione metabolism_Homo sapiens_hsa004801.56922892
25Fatty acid elongation_Homo sapiens_hsa000621.53920120
26* Collecting duct acid secretion_Homo sapiens_hsa049661.53224851
27Hematopoietic cell lineage_Homo sapiens_hsa046401.46648914
28Huntingtons disease_Homo sapiens_hsa050161.45026888
29Leishmaniasis_Homo sapiens_hsa051401.43065882
30* Phagosome_Homo sapiens_hsa041451.41012708
31Viral myocarditis_Homo sapiens_hsa054161.33694096
32Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.32392911
33Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.25818875
34Primary immunodeficiency_Homo sapiens_hsa053401.19911817
35Tuberculosis_Homo sapiens_hsa051521.15506316
36Malaria_Homo sapiens_hsa051441.08394840
37Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.05431616
38Mineral absorption_Homo sapiens_hsa049781.05001056
39Legionellosis_Homo sapiens_hsa051341.04503352
40Primary bile acid biosynthesis_Homo sapiens_hsa001201.03402733
41RNA polymerase_Homo sapiens_hsa030201.02124162
42Folate biosynthesis_Homo sapiens_hsa007901.01838920
43NF-kappa B signaling pathway_Homo sapiens_hsa040640.98994851
44* Vibrio cholerae infection_Homo sapiens_hsa051100.98405120
45Osteoclast differentiation_Homo sapiens_hsa043800.97415618
46Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.96892105
47Pertussis_Homo sapiens_hsa051330.95857159
48Toll-like receptor signaling pathway_Homo sapiens_hsa046200.95737605
49Shigellosis_Homo sapiens_hsa051310.92309958
50Complement and coagulation cascades_Homo sapiens_hsa046100.90464041
51Sphingolipid metabolism_Homo sapiens_hsa006000.84610276
52Galactose metabolism_Homo sapiens_hsa000520.84526136
53Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.83609413
54Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.80803085
55Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.80615717
56Arachidonic acid metabolism_Homo sapiens_hsa005900.79262062
57Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.78725303
58Chemical carcinogenesis_Homo sapiens_hsa052040.77321917
59Peroxisome_Homo sapiens_hsa041460.75637395
60Salmonella infection_Homo sapiens_hsa051320.75030840
61Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.73018266
62Regulation of autophagy_Homo sapiens_hsa041400.72521726
63Toxoplasmosis_Homo sapiens_hsa051450.72125280
64Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.69751382
65Drug metabolism - other enzymes_Homo sapiens_hsa009830.67629424
66Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.67410832
67Pentose and glucuronate interconversions_Homo sapiens_hsa000400.64858896
68Herpes simplex infection_Homo sapiens_hsa051680.63260058
69Pyrimidine metabolism_Homo sapiens_hsa002400.61829674
70Measles_Homo sapiens_hsa051620.61313810
71Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.61079466
72N-Glycan biosynthesis_Homo sapiens_hsa005100.60190681
73Influenza A_Homo sapiens_hsa051640.59519683
74NOD-like receptor signaling pathway_Homo sapiens_hsa046210.58494494
75RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.57658046
76* Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.53225704
77Tryptophan metabolism_Homo sapiens_hsa003800.52943314
78Caffeine metabolism_Homo sapiens_hsa002320.50885336
79Maturity onset diabetes of the young_Homo sapiens_hsa049500.48865880
80Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.47403064
81Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.46764472
82Pentose phosphate pathway_Homo sapiens_hsa000300.46105266
83* Metabolic pathways_Homo sapiens_hsa011000.45175399
84African trypanosomiasis_Homo sapiens_hsa051430.42955829
85Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.41797153
86Cardiac muscle contraction_Homo sapiens_hsa042600.41131881
87Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.38451141
88Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.38209677
89Steroid hormone biosynthesis_Homo sapiens_hsa001400.37566565
90Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.36322867
91Chemokine signaling pathway_Homo sapiens_hsa040620.36074256
92TNF signaling pathway_Homo sapiens_hsa046680.35259787
93Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.35220373
94Epstein-Barr virus infection_Homo sapiens_hsa051690.34060274
95Fatty acid degradation_Homo sapiens_hsa000710.33499109
96PPAR signaling pathway_Homo sapiens_hsa033200.32887289
97Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.32246620
98Systemic lupus erythematosus_Homo sapiens_hsa053220.31485234
99Jak-STAT signaling pathway_Homo sapiens_hsa046300.29015184
100Platelet activation_Homo sapiens_hsa046110.28874941

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