USP8

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 that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)5.94262481
2cilium or flagellum-dependent cell motility (GO:0001539)5.93747099
3fusion of sperm to egg plasma membrane (GO:0007342)5.09705546
4piRNA metabolic process (GO:0034587)4.93336400
5sperm motility (GO:0030317)4.42423383
6antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.37092622
7acrosome assembly (GO:0001675)4.23732635
8kynurenine metabolic process (GO:0070189)4.22136043
9male meiosis (GO:0007140)4.19643379
10tryptophan catabolic process (GO:0006569)4.18498745
11indole-containing compound catabolic process (GO:0042436)4.18498745
12indolalkylamine catabolic process (GO:0046218)4.18498745
13sperm-egg recognition (GO:0035036)4.15392035
14indolalkylamine metabolic process (GO:0006586)4.13862376
15modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.06089132
16positive regulation by organism of defense response of other organism involved in symbiotic interact4.06089132
17modulation by symbiont of host immune response (GO:0052553)4.06089132
18positive regulation by symbiont of host defense response (GO:0052509)4.06089132
19modulation by symbiont of host defense response (GO:0052031)4.06089132
20modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.06089132
21synaptonemal complex assembly (GO:0007130)4.05922301
22membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.01813496
23multicellular organism reproduction (GO:0032504)4.00227658
24fucose catabolic process (GO:0019317)3.99689629
25L-fucose metabolic process (GO:0042354)3.99689629
26L-fucose catabolic process (GO:0042355)3.99689629
27cell-cell recognition (GO:0009988)3.99496026
28sulfation (GO:0051923)3.95754834
29synaptonemal complex organization (GO:0070193)3.94736217
30regulation of hippo signaling (GO:0035330)3.86442867
31interkinetic nuclear migration (GO:0022027)3.82799284
32binding of sperm to zona pellucida (GO:0007339)3.80776900
33plasma membrane fusion (GO:0045026)3.64751738
34tryptophan metabolic process (GO:0006568)3.60462619
35regulation of mesoderm development (GO:2000380)3.56070653
36reproduction (GO:0000003)3.55144203
37fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.49643855
38membrane repolarization during cardiac muscle cell action potential (GO:0086013)3.47346193
39negative regulation of systemic arterial blood pressure (GO:0003085)3.45971773
40mitotic sister chromatid cohesion (GO:0007064)3.44560874
41nuclear pore complex assembly (GO:0051292)3.37234948
42regulation of establishment of cell polarity (GO:2000114)3.36325986
43spermatid development (GO:0007286)3.34110509
44indole-containing compound metabolic process (GO:0042430)3.33592315
45organic cation transport (GO:0015695)3.33509894
46regulation of gene silencing by RNA (GO:0060966)3.31715940
47regulation of posttranscriptional gene silencing (GO:0060147)3.31715940
48regulation of gene silencing by miRNA (GO:0060964)3.31715940
49serotonin metabolic process (GO:0042428)3.30094301
50axonemal dynein complex assembly (GO:0070286)3.29536324
51rRNA catabolic process (GO:0016075)3.28276321
52primary amino compound metabolic process (GO:1901160)3.22429808
53kidney morphogenesis (GO:0060993)3.22201605
54acrosome reaction (GO:0007340)3.21604604
55monoubiquitinated protein deubiquitination (GO:0035520)3.20056922
56membrane repolarization during action potential (GO:0086011)3.19520417
57NLS-bearing protein import into nucleus (GO:0006607)3.17087494
58water-soluble vitamin biosynthetic process (GO:0042364)3.17023052
59regulation of DNA endoreduplication (GO:0032875)3.16821032
60regulation of interferon-beta biosynthetic process (GO:0045357)3.14882126
61macrophage activation involved in immune response (GO:0002281)3.12646541
62detection of light stimulus involved in visual perception (GO:0050908)3.12393648
63detection of light stimulus involved in sensory perception (GO:0050962)3.12393648
64low-density lipoprotein particle clearance (GO:0034383)3.11981245
65negative regulation of translation, ncRNA-mediated (GO:0040033)3.11132211
66regulation of translation, ncRNA-mediated (GO:0045974)3.11132211
67negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.11132211
68flavonoid metabolic process (GO:0009812)3.10120991
69negative regulation of sodium ion transport (GO:0010766)3.09504957
70apoptotic cell clearance (GO:0043277)3.08783446
71snRNA transcription (GO:0009301)3.06642198
72positive regulation of fatty acid oxidation (GO:0046321)3.05931186
73DNA deamination (GO:0045006)3.05498228
74positive regulation of interferon-alpha production (GO:0032727)3.02184779
75cellular response to exogenous dsRNA (GO:0071360)3.00591658
76regulation of establishment or maintenance of cell polarity (GO:0032878)3.00302829
77macroautophagy (GO:0016236)2.99308403
78magnesium ion transport (GO:0015693)2.97954488
79oxidative demethylation (GO:0070989)2.96900898
80carnitine transport (GO:0015879)2.92536915
81amino-acid betaine transport (GO:0015838)2.92536915
82regulation of cholesterol storage (GO:0010885)2.91326489
83regulation of protein polyubiquitination (GO:1902914)2.86149088
84nuclear pore organization (GO:0006999)2.85629494
85axoneme assembly (GO:0035082)2.83308616
86regulation of interferon-alpha production (GO:0032647)2.83092480
87parturition (GO:0007567)2.81572669
88cellular ketone body metabolic process (GO:0046950)2.79610148
89endosome to pigment granule transport (GO:0043485)2.79372548
90endosome to melanosome transport (GO:0035646)2.79372548
91neural tube formation (GO:0001841)2.79047575
92epithelial cilium movement (GO:0003351)2.78828887
93response to host immune response (GO:0052572)2.78495486
94response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.78495486
95seminiferous tubule development (GO:0072520)2.77560279
96cell wall macromolecule metabolic process (GO:0044036)2.77090217
97cell wall macromolecule catabolic process (GO:0016998)2.77090217
98regulation of interleukin-12 biosynthetic process (GO:0045075)2.76730659
99cardiovascular system development (GO:0072358)2.76692268
100pore complex assembly (GO:0046931)2.75124084
101positive regulation of fatty acid beta-oxidation (GO:0032000)2.75002234
102spinal cord motor neuron differentiation (GO:0021522)2.74937910
1033-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.74375499
104purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.74375499
105cellular response to ATP (GO:0071318)2.74014130
106protein K11-linked deubiquitination (GO:0035871)2.73965003
107epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.72163268
108positive regulation of glycolytic process (GO:0045821)2.71104035
109I-kappaB phosphorylation (GO:0007252)2.71018864
110ovulation cycle (GO:0042698)2.70661663
111motile cilium assembly (GO:0044458)2.69979516
112negative regulation of mast cell activation (GO:0033004)2.69473690
113atrial cardiac muscle cell action potential (GO:0086014)2.68890680
114alpha-linolenic acid metabolic process (GO:0036109)2.68271840
115male meiosis I (GO:0007141)2.68148518
116establishment of protein localization to Golgi (GO:0072600)2.67976404
117detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.67651554
118mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.66776662
119mitochondrial respiratory chain complex I assembly (GO:0032981)2.66776662
120NADH dehydrogenase complex assembly (GO:0010257)2.66776662
121carnitine transmembrane transport (GO:1902603)2.66600914
122gene silencing by RNA (GO:0031047)2.65384906
123microglial cell activation (GO:0001774)2.65011041
124regulation of action potential (GO:0098900)2.64704330
125regulation of rhodopsin mediated signaling pathway (GO:0022400)2.61866639
126gamma-aminobutyric acid transport (GO:0015812)2.59985897
127negative regulation of DNA-dependent DNA replication (GO:2000104)2.59941568
128rhodopsin mediated signaling pathway (GO:0016056)2.59106122
129neuronal action potential (GO:0019228)2.58523450
130peristalsis (GO:0030432)2.58434800
131DNA methylation involved in gamete generation (GO:0043046)2.58426255
132cell proliferation in forebrain (GO:0021846)2.58191581
133double-strand break repair via homologous recombination (GO:0000724)2.55849787
134response to host (GO:0075136)2.55239482
135response to host defenses (GO:0052200)2.55239482
136response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.55239482
137amine catabolic process (GO:0009310)2.55076493
138cellular biogenic amine catabolic process (GO:0042402)2.55076493
139cilium organization (GO:0044782)2.54891015
140chromosome organization involved in meiosis (GO:0070192)2.54553775
141recombinational repair (GO:0000725)2.53586751
142urea cycle (GO:0000050)2.53469647
143urea metabolic process (GO:0019627)2.53469647
144nonmotile primary cilium assembly (GO:0035058)2.53107243
145cornea development in camera-type eye (GO:0061303)2.52716031
146drug transmembrane transport (GO:0006855)2.52675168
147positive regulation of oligodendrocyte differentiation (GO:0048714)2.52416231
148positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.52269720
149regulation of pigment cell differentiation (GO:0050932)2.51399849
150single fertilization (GO:0007338)2.51109044
151peptide catabolic process (GO:0043171)2.51014725
152ketone body metabolic process (GO:1902224)2.50306138
153positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.49427119
154RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.48523722
155prostate gland growth (GO:0060736)2.48364293
156cilium assembly (GO:0042384)2.47739980
157meiotic nuclear division (GO:0007126)2.47332250
158somite development (GO:0061053)2.46087305
159pinocytosis (GO:0006907)2.45516014
160fertilization (GO:0009566)2.44985121
161reciprocal meiotic recombination (GO:0007131)2.44113132
162reciprocal DNA recombination (GO:0035825)2.44113132
163quaternary ammonium group transport (GO:0015697)2.42804337
164growth hormone receptor signaling pathway (GO:0060396)2.41834142
165positive regulation of developmental pigmentation (GO:0048087)2.41701290
166complement activation, alternative pathway (GO:0006957)2.40620200
167NAD biosynthetic process (GO:0009435)2.40380064
168reflex (GO:0060004)2.40003475
169positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.39103021
170positive regulation of histone deacetylation (GO:0031065)2.38728525
171negative regulation of telomere maintenance (GO:0032205)2.38728082
172natural killer cell mediated immunity (GO:0002228)2.38482694
173natural killer cell mediated cytotoxicity (GO:0042267)2.38482694
174antigen processing and presentation via MHC class Ib (GO:0002475)2.35388950
175positive regulation of phagocytosis (GO:0050766)2.32979747
176regulation of centriole replication (GO:0046599)2.32849372
177lysine metabolic process (GO:0006553)2.31587998
178lysine catabolic process (GO:0006554)2.31587998
179negative regulation of granulocyte differentiation (GO:0030853)2.30935476
180heterochromatin organization (GO:0070828)2.30709108
181positive regulation of p38MAPK cascade (GO:1900745)2.30487950
182amino-acid betaine metabolic process (GO:0006577)2.30259148
183mannose metabolic process (GO:0006013)2.29752651
184negative regulation of interleukin-12 production (GO:0032695)2.28551421
185spermatogenesis (GO:0007283)2.28257110
186cellular extravasation (GO:0045123)2.27882731
187male gamete generation (GO:0048232)2.26950417
188cellular process involved in reproduction in multicellular organism (GO:0022412)2.26102066
189cilium movement (GO:0003341)2.26028427
190immunoglobulin mediated immune response (GO:0016064)2.23746384
191cysteine metabolic process (GO:0006534)2.22764649
192urate metabolic process (GO:0046415)2.22219608
193protein carboxylation (GO:0018214)2.22162474

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse4.04105558
2IRF8_22096565_ChIP-ChIP_GC-B_Human3.75405057
3IRF8_21731497_ChIP-ChIP_J774_Mouse3.52839709
4ZNF274_21170338_ChIP-Seq_K562_Hela3.45168657
5STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse3.35345949
6EZH2_22144423_ChIP-Seq_EOC_Human3.21820812
7EGR1_19374776_ChIP-ChIP_THP-1_Human3.02247796
8GBX2_23144817_ChIP-Seq_PC3_Human2.97520169
9IRF8_27001747_Chip-Seq_BMDM_Mouse2.96418114
10VDR_22108803_ChIP-Seq_LS180_Human2.94359186
11ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.89866636
12Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.84294598
13* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.83231493
14GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.72137632
15IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.61411770
16NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.55341919
17GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.49707138
18ZFP57_27257070_Chip-Seq_ESCs_Mouse2.49637472
19SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.46182511
20FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.45909006
21* MYB_21317192_ChIP-Seq_ERMYB_Mouse2.43245093
22LXR_22158963_ChIP-Seq_LIVER_Mouse2.37220904
23BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.35233569
24RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.35128056
25RXR_22158963_ChIP-Seq_LIVER_Mouse2.26436957
26* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.25007642
27CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.24804445
28* PPARA_22158963_ChIP-Seq_LIVER_Mouse2.23172741
29EWS_26573619_Chip-Seq_HEK293_Human2.15626542
30FOXM1_23109430_ChIP-Seq_U2OS_Human2.13979610
31FUS_26573619_Chip-Seq_HEK293_Human2.12888553
32FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.11923693
33* ER_23166858_ChIP-Seq_MCF-7_Human2.11318659
34CTBP2_25329375_ChIP-Seq_LNCAP_Human2.01606105
35BP1_19119308_ChIP-ChIP_Hs578T_Human2.01410412
36TAF15_26573619_Chip-Seq_HEK293_Human2.00133335
37* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.97615978
38IGF1R_20145208_ChIP-Seq_DFB_Human1.94478595
39BRD4_27068464_Chip-Seq_AML-cells_Mouse1.91899584
40FLI1_27457419_Chip-Seq_LIVER_Mouse1.90371359
41P300_19829295_ChIP-Seq_ESCs_Human1.89651970
42SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.85343030
43CTBP1_25329375_ChIP-Seq_LNCAP_Human1.82825744
44* STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.82285968
45PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.81642227
46PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.79766087
47PIAS1_25552417_ChIP-Seq_VCAP_Human1.79686681
48* STAT3_23295773_ChIP-Seq_U87_Human1.75605395
49STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.74465503
50ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.69647504
51IRF1_19129219_ChIP-ChIP_H3396_Human1.69060647
52EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.63209959
53TCF4_23295773_ChIP-Seq_U87_Human1.59635110
54* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.59505808
55SMAD4_21799915_ChIP-Seq_A2780_Human1.59029752
56* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.58308064
57TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.56917912
58BMI1_23680149_ChIP-Seq_NPCS_Mouse1.55627415
59PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.54120558
60NR3C1_21868756_ChIP-Seq_MCF10A_Human1.52744901
61TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.51427747
62POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.51427747
63AHR_22903824_ChIP-Seq_MCF-7_Human1.51335281
64SPI1_23127762_ChIP-Seq_K562_Human1.51176295
65NOTCH1_21737748_ChIP-Seq_TLL_Human1.50562689
66PCGF2_27294783_Chip-Seq_ESCs_Mouse1.50077580
67MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.49743723
68AR_25329375_ChIP-Seq_VCAP_Human1.46288567
69GATA1_22025678_ChIP-Seq_K562_Human1.46158584
70MYB_26560356_Chip-Seq_TH1_Human1.46107115
71MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.46013501
72ARNT_22903824_ChIP-Seq_MCF-7_Human1.44302903
73MYB_26560356_Chip-Seq_TH2_Human1.44050809
74SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.42860162
75MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.42208966
76AR_21572438_ChIP-Seq_LNCaP_Human1.41975919
77NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.41801024
78PU_27001747_Chip-Seq_BMDM_Mouse1.41692400
79IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.40057820
80ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.39539772
81NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.39506704
82FOXA2_19822575_ChIP-Seq_HepG2_Human1.38894697
83CBX2_27304074_Chip-Seq_ESCs_Mouse1.37771549
84MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.37666179
85BCAT_22108803_ChIP-Seq_LS180_Human1.37515293
86HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.36568618
87FOXO3_23340844_ChIP-Seq_DLD1_Human1.36536661
88IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.35268847
89CBP_20019798_ChIP-Seq_JUKART_Human1.35268847
90EGR1_23403033_ChIP-Seq_LIVER_Mouse1.33075393
91TP53_16413492_ChIP-PET_HCT116_Human1.33046420
92FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.31924412
93NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.28322927
94TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.27676555
95SMAD3_21741376_ChIP-Seq_EPCs_Human1.27634153
96TOP2B_26459242_ChIP-Seq_MCF-7_Human1.27214961
97PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.26634201
98SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.25430135
99REST_21632747_ChIP-Seq_MESCs_Mouse1.24395783
100VDR_24787735_ChIP-Seq_THP-1_Human1.24386440
101TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.23833241
102TCF4_22108803_ChIP-Seq_LS180_Human1.23674196
103SMAD4_21741376_ChIP-Seq_EPCs_Human1.23461243
104FLI1_21867929_ChIP-Seq_TH2_Mouse1.23436845
105TCF7_22412390_ChIP-Seq_EML_Mouse1.23296953
106PRDM14_20953172_ChIP-Seq_ESCs_Human1.22835742
107RNF2_27304074_Chip-Seq_NSC_Mouse1.22694987
108OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22554007
109SUZ12_27294783_Chip-Seq_NPCs_Mouse1.21920767
110RUNX2_22187159_ChIP-Seq_PCA_Human1.21678606
111PCGF2_27294783_Chip-Seq_NPCs_Mouse1.20673363
112AR_21909140_ChIP-Seq_LNCAP_Human1.19849430
113RUNX1_22412390_ChIP-Seq_EML_Mouse1.19829988
114TP53_22573176_ChIP-Seq_HFKS_Human1.17775500
115FOXM1_26456572_ChIP-Seq_MCF-7_Human1.17600819
116FOXA1_27270436_Chip-Seq_PROSTATE_Human1.17493531
117FOXA1_25329375_ChIP-Seq_VCAP_Human1.17493531
118HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.16587563
119EZH2_27294783_Chip-Seq_NPCs_Mouse1.16108924
120NANOG_19829295_ChIP-Seq_ESCs_Human1.15172919
121SOX2_19829295_ChIP-Seq_ESCs_Human1.15172919
122RBPJ_22232070_ChIP-Seq_NCS_Mouse1.14984064
123NFE2_27457419_Chip-Seq_LIVER_Mouse1.14683830
124GATA3_21878914_ChIP-Seq_MCF-7_Human1.14350238
125SCL_19346495_ChIP-Seq_HPC-7_Human1.12730350
126KLF5_20875108_ChIP-Seq_MESCs_Mouse1.12137596
127RUNX_20019798_ChIP-Seq_JUKART_Human1.12026578
128TDRD3_21172665_ChIP-Seq_MCF-7_Human1.11950557
129ZNF217_24962896_ChIP-Seq_MCF-7_Human1.11567659
130TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.11504356
131* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.11013826
132CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.09812513
133RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.09759907
134NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.08348926
135BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.06411017
136HOXB7_26014856_ChIP-Seq_BT474_Human1.06337604
137FOXA1_21572438_ChIP-Seq_LNCaP_Human1.06230924
138GATA3_26560356_Chip-Seq_TH2_Human1.05986671
139CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05406790
140FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.05200157
141GATA3_27048872_Chip-Seq_THYMUS_Human1.04957267
142JARID2_20064375_ChIP-Seq_MESCs_Mouse1.04528777
143PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.03812710
144RXR_22108803_ChIP-Seq_LS180_Human1.02918637
145RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.02613922
146EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.02440146
147SALL4_18804426_ChIP-ChIP_XEN_Mouse1.02362967
148NANOG_18555785_Chip-Seq_ESCs_Mouse1.01988983
149SALL1_21062744_ChIP-ChIP_HESCs_Human1.00767556
150GATA2_21666600_ChIP-Seq_HMVEC_Human1.00644822
151SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00603088
152KDM2B_26808549_Chip-Seq_REH_Human1.00396190
153TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.99499797
154EED_16625203_ChIP-ChIP_MESCs_Mouse0.99458148
155* SOX2_21211035_ChIP-Seq_LN229_Gbm0.99239793
156GATA4_25053715_ChIP-Seq_YYC3_Human0.98899336
157SOX2_27498859_Chip-Seq_STOMACH_Mouse0.98373242
158JUN_21703547_ChIP-Seq_K562_Human0.98287657
159SPI1_23547873_ChIP-Seq_NB4_Human0.97489659
160PPAR_26484153_Chip-Seq_NCI-H1993_Human0.97135294
161CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.97119683
162CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.97051456
163SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.95233997
164TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.95176896
165VDR_24763502_ChIP-Seq_THP-1_Human0.94795847
166CLOCK_20551151_ChIP-Seq_293T_Human0.94658357
167JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.94027543
168ELK4_26923725_Chip-Seq_MESODERM_Mouse0.93620495
169KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.92924146
170HNF4A_19822575_ChIP-Seq_HepG2_Human0.92336899
171GATA6_25053715_ChIP-Seq_YYC3_Human0.91932207
172RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.90626547
173* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.89958224
174EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.89636067
175NFIB_24661679_ChIP-Seq_LUNG_Mouse0.89362288
176MAF_26560356_Chip-Seq_TH1_Human0.88373803
177BRD4_25478319_ChIP-Seq_HGPS_Human0.87337862
178STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.87335694
179E2F7_22180533_ChIP-Seq_HELA_Human0.86793213
180PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.85491718
181GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85467112
182TBX20_22080862_ChIP-Seq_HEART_Mouse0.85312768
183TBX20_22328084_ChIP-Seq_HEART_Mouse0.85312768
184CDX2_22108803_ChIP-Seq_LS180_Human0.84797456
185* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.84783001
186UTX_26944678_Chip-Seq_JUKART_Human0.84099865
187LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.83722864
188* KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.83372403
189TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.81261634
190KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.80800478
191E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.80350237
192KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.79608452
193FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.79423397
194FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.78911583
195CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.78444909

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization3.97077920
2MP0002139_abnormal_hepatobiliary_system3.07667585
3MP0005058_abnormal_lysosome_morphology2.86028101
4MP0003646_muscle_fatigue2.84788759
5MP0003300_gastrointestinal_ulcer2.81416047
6MP0003252_abnormal_bile_duct2.68640764
7MP0000569_abnormal_digit_pigmentation2.55326153
8MP0005646_abnormal_pituitary_gland2.38691642
9MP0005360_urolithiasis2.36516466
10MP0003787_abnormal_imprinting2.31967648
11MP0002160_abnormal_reproductive_system2.30566764
12MP0005551_abnormal_eye_electrophysiolog2.29715082
13MP0000383_abnormal_hair_follicle2.27317444
14MP0001485_abnormal_pinna_reflex2.14546094
15MP0005174_abnormal_tail_pigmentation2.11717339
16MP0001835_abnormal_antigen_presentation2.10860410
17MP0003191_abnormal_cellular_cholesterol2.09021421
18MP0000427_abnormal_hair_cycle2.07908946
19MP0005365_abnormal_bile_salt2.07739920
20MP0004885_abnormal_endolymph2.06451236
21MP0009046_muscle_twitch2.06258266
22MP0003172_abnormal_lysosome_physiology2.04700696
23MP0003705_abnormal_hypodermis_morpholog2.02945690
24MP0002837_dystrophic_cardiac_calcinosis2.00759747
25MP0003890_abnormal_embryonic-extraembry2.00361886
26MP0004043_abnormal_pH_regulation1.98065752
27MP0010307_abnormal_tumor_latency1.95933985
28MP0008877_abnormal_DNA_methylation1.95169291
29MP0002638_abnormal_pupillary_reflex1.89354363
30MP0001968_abnormal_touch/_nociception1.88644711
31MP0002876_abnormal_thyroid_physiology1.87509199
32MP0002138_abnormal_hepatobiliary_system1.85305258
33MP0009840_abnormal_foam_cell1.84427452
34MP0005670_abnormal_white_adipose1.84350854
35MP0004130_abnormal_muscle_cell1.84235944
36MP0003045_fibrosis1.82935184
37MP0003566_abnormal_cell_adhesion1.82615938
38MP0003436_decreased_susceptibility_to1.79904300
39MP0003136_yellow_coat_color1.79110505
40MP0008872_abnormal_physiological_respon1.77108340
41MP0002938_white_spotting1.75255957
42MP0006292_abnormal_olfactory_placode1.72100468
43MP0005085_abnormal_gallbladder_physiolo1.71013335
44MP0002928_abnormal_bile_duct1.70082757
45MP0009745_abnormal_behavioral_response1.68121395
46MP0010234_abnormal_vibrissa_follicle1.67660772
47MP0003303_peritoneal_inflammation1.66946498
48MP0004147_increased_porphyrin_level1.65886769
49MP0005389_reproductive_system_phenotype1.64576252
50MP0000631_abnormal_neuroendocrine_gland1.64559205
51MP0004142_abnormal_muscle_tone1.56704603
52MP0001929_abnormal_gametogenesis1.55353703
53MP0010352_gastrointestinal_tract_polyps1.52448603
54MP0002272_abnormal_nervous_system1.52060281
55MP0002102_abnormal_ear_morphology1.51538651
56MP0004133_heterotaxia1.50264485
57MP0002735_abnormal_chemical_nociception1.47970514
58MP0003183_abnormal_peptide_metabolism1.47220064
59MP0005464_abnormal_platelet_physiology1.46805976
60MP0006082_CNS_inflammation1.45791251
61MP0002419_abnormal_innate_immunity1.44823261
62MP0001958_emphysema1.44582051
63MP0010386_abnormal_urinary_bladder1.44107148
64MP0005253_abnormal_eye_physiology1.43154379
65MP0005076_abnormal_cell_differentiation1.42311030
66MP0006072_abnormal_retinal_apoptosis1.41897406
67MP0001986_abnormal_taste_sensitivity1.40211059
68MP0003698_abnormal_male_reproductive1.38015004
69MP0002166_altered_tumor_susceptibility1.32051276
70MP0002168_other_aberrant_phenotype1.30729648
71MP0002736_abnormal_nociception_after1.29131709
72MP0001486_abnormal_startle_reflex1.27213302
73MP0008057_abnormal_DNA_replication1.27145502
74MP0001501_abnormal_sleep_pattern1.25821585
75MP0000609_abnormal_liver_physiology1.25440937
76MP0004808_abnormal_hematopoietic_stem1.23276968
77MP0010329_abnormal_lipoprotein_level1.23116578
78MP0010678_abnormal_skin_adnexa1.22692572
79MP0001919_abnormal_reproductive_system1.21884897
80MP0005397_hematopoietic_system_phenotyp1.19477170
81MP0001545_abnormal_hematopoietic_system1.19477170
82MP0002653_abnormal_ependyma_morphology1.19332964
83MP0001790_abnormal_immune_system1.19043164
84MP0005387_immune_system_phenotype1.19043164
85MP0005666_abnormal_adipose_tissue1.18743081
86MP0004947_skin_inflammation1.18282043
87MP0002064_seizures1.17938198
88MP0008438_abnormal_cutaneous_collagen1.16160070
89MP0003718_maternal_effect1.14165904
90MP0004782_abnormal_surfactant_physiolog1.14126245
91MP0004145_abnormal_muscle_electrophysio1.13631146
92MP0009278_abnormal_bone_marrow1.13607471
93MP0004924_abnormal_behavior1.13393752
94MP0005386_behavior/neurological_phenoty1.13393752
95MP0005623_abnormal_meninges_morphology1.12907466
96MP0004742_abnormal_vestibular_system1.12881812
97MP0002733_abnormal_thermal_nociception1.12486416
98MP0003011_delayed_dark_adaptation1.11392001
99MP0009780_abnormal_chondrocyte_physiolo1.10963964
100MP0000343_altered_response_to1.10858590
101MP0003119_abnormal_digestive_system1.10615104
102MP0002396_abnormal_hematopoietic_system1.10571045
103MP0002452_abnormal_antigen_presenting1.10055764
104MP0002572_abnormal_emotion/affect_behav1.09773432
105MP0002067_abnormal_sensory_capabilities1.09393070
106MP0002557_abnormal_social/conspecific_i1.09118857
107MP0002006_tumorigenesis1.09000895
108MP0008469_abnormal_protein_level1.08382142
109MP0005083_abnormal_biliary_tract1.08070223
110MP0003937_abnormal_limbs/digits/tail_de1.07958593
111MP0001970_abnormal_pain_threshold1.07939424
112MP0008875_abnormal_xenobiotic_pharmacok1.07433009
113MP0000230_abnormal_systemic_arterial1.06879426
114MP0001440_abnormal_grooming_behavior1.05909726
115MP0000371_diluted_coat_color1.05897541
116MP0004264_abnormal_extraembryonic_tissu1.05139914
117MP0009643_abnormal_urine_homeostasis1.04870804
118MP0001800_abnormal_humoral_immune1.04282062
119MP0004510_myositis1.03829314
120MP0001845_abnormal_inflammatory_respons1.02150874
121MP0008775_abnormal_heart_ventricle1.02016472
122MP0005319_abnormal_enzyme/_coenzyme1.01129633
123MP0005025_abnormal_response_to1.00944154
124MP0004215_abnormal_myocardial_fiber1.00721456
125MP0002063_abnormal_learning/memory/cond0.98636926
126MP0005195_abnormal_posterior_eye0.98000263
127MP0000598_abnormal_liver_morphology0.96972047
128MP0008961_abnormal_basal_metabolism0.96641945
129MP0003137_abnormal_impulse_conducting0.96493844
130MP0004019_abnormal_vitamin_homeostasis0.96275299
131MP0005000_abnormal_immune_tolerance0.95553499
132MP0002136_abnormal_kidney_physiology0.95113635
133MP0000470_abnormal_stomach_morphology0.94990241
134MP0002095_abnormal_skin_pigmentation0.94917929
135MP0002723_abnormal_immune_serum0.94804317
136MP0001533_abnormal_skeleton_physiology0.94101472
137MP0005645_abnormal_hypothalamus_physiol0.94035616
138MP0005332_abnormal_amino_acid0.93555537
139MP0001853_heart_inflammation0.93014519
140MP0002210_abnormal_sex_determination0.92692612
141MP0003195_calcinosis0.91016752
142MP0005023_abnormal_wound_healing0.90097566
143MP0005448_abnormal_energy_balance0.89929311
144MP0003091_abnormal_cell_migration0.89573825
145MP0002734_abnormal_mechanical_nocicepti0.89290885
146MP0006276_abnormal_autonomic_nervous0.87256685
147MP0000685_abnormal_immune_system0.86967384
148MP0003283_abnormal_digestive_organ0.86947213
149MP0002118_abnormal_lipid_homeostasis0.86619472
150MP0001324_abnormal_eye_pigmentation0.86164336
151MP0003635_abnormal_synaptic_transmissio0.86032373
152MP0001145_abnormal_male_reproductive0.85404340
153MP0002161_abnormal_fertility/fecundity0.84995128
154MP0004085_abnormal_heartbeat0.84934514
155MP0001765_abnormal_ion_homeostasis0.84548804
156MP0002229_neurodegeneration0.84042839
157MP0001915_intracranial_hemorrhage0.83328058
158MP0003075_altered_response_to0.83235975
159MP0003448_altered_tumor_morphology0.83065798
160MP0002877_abnormal_melanocyte_morpholog0.83034676
161MP0009763_increased_sensitivity_to0.82963319
162MP0000538_abnormal_urinary_bladder0.82553802
163MP0003690_abnormal_glial_cell0.82385084
164MP0002405_respiratory_system_inflammati0.81625681
165MP0002184_abnormal_innervation0.81575344
166MP0005375_adipose_tissue_phenotype0.81555426
167MP0005167_abnormal_blood-brain_barrier0.80946044
168MP0005266_abnormal_metabolism0.80367629
169MP0001819_abnormal_immune_cell0.80354655
170MP0004185_abnormal_adipocyte_glucose0.80235619
171MP0000604_amyloidosis0.79357452
172MP0010155_abnormal_intestine_physiology0.78665243
173MP0009785_altered_susceptibility_to0.78398999
174MP0001963_abnormal_hearing_physiology0.78056274
175MP0005166_decreased_susceptibility_to0.78055850
176MP0000026_abnormal_inner_ear0.77774394
177MP0002420_abnormal_adaptive_immunity0.77649753
178MP0002752_abnormal_somatic_nervous0.77108351
179MP0002998_abnormal_bone_remodeling0.76895913
180MP0009764_decreased_sensitivity_to0.76252306
181MP0005647_abnormal_sex_gland0.75967420
182MP0003879_abnormal_hair_cell0.75595571
183MP0000647_abnormal_sebaceous_gland0.71226610
184MP0003121_genomic_imprinting0.67011535
185MP0003806_abnormal_nucleotide_metabolis0.66826180

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)5.14178865
2Pancreatic cysts (HP:0001737)4.60663776
3Molar tooth sign on MRI (HP:0002419)4.20744314
4Abnormality of midbrain morphology (HP:0002418)4.20744314
5Dynein arm defect of respiratory motile cilia (HP:0012255)4.11332867
6Absent/shortened dynein arms (HP:0200106)4.11332867
7Pancreatic fibrosis (HP:0100732)4.09820514
8Hyperventilation (HP:0002883)4.09069220
9Genetic anticipation (HP:0003743)3.99764706
10Birth length less than 3rd percentile (HP:0003561)3.79400955
11Nasal polyposis (HP:0100582)3.73914171
12Nephronophthisis (HP:0000090)3.72849517
13True hermaphroditism (HP:0010459)3.70261790
14Systemic lupus erythematosus (HP:0002725)3.67707538
15Congenital stationary night blindness (HP:0007642)3.64662513
16Protruding tongue (HP:0010808)3.33787230
17Abnormality of the renal cortex (HP:0011035)3.33740872
18Rhinitis (HP:0012384)3.30565708
19Abnormality of the nasal mucosa (HP:0000433)3.29916271
20Abnormality of the renal medulla (HP:0100957)3.28702285
21Clumsiness (HP:0002312)3.24976576
22Upper motor neuron abnormality (HP:0002127)3.21395497
23Chronic bronchitis (HP:0004469)3.13404376
24Myocardial infarction (HP:0001658)3.13215161
25Progressive cerebellar ataxia (HP:0002073)3.08775681
26Decreased circulating renin level (HP:0003351)2.96911250
27Abnormal respiratory motile cilium physiology (HP:0012261)2.92832260
28Patellar aplasia (HP:0006443)2.92208676
29Increased cerebral lipofuscin (HP:0011813)2.88322375
30Cerebral aneurysm (HP:0004944)2.87422587
31Aplasia/Hypoplasia of the tibia (HP:0005772)2.85385818
32Cystic liver disease (HP:0006706)2.84922865
33Aplasia/Hypoplasia of the patella (HP:0006498)2.84886788
34Complement deficiency (HP:0004431)2.83915328
35Recurrent gram-negative bacterial infections (HP:0005420)2.82676929
36Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.79570294
37Abnormality of alanine metabolism (HP:0010916)2.79570294
38Hyperalaninemia (HP:0003348)2.79570294
39Abolished electroretinogram (ERG) (HP:0000550)2.77053307
40Recurrent bacterial skin infections (HP:0005406)2.74394475
41Gaze-evoked nystagmus (HP:0000640)2.74356319
42Furrowed tongue (HP:0000221)2.73018046
43Congenital, generalized hypertrichosis (HP:0004540)2.69063274
44Large for gestational age (HP:0001520)2.63202939
45Eczematoid dermatitis (HP:0000976)2.61763880
46Urinary glycosaminoglycan excretion (HP:0003541)2.61668398
47Mucopolysacchariduria (HP:0008155)2.61668398
48Infertility (HP:0000789)2.60528083
49Chorioretinal atrophy (HP:0000533)2.59943698
50Interstitial pulmonary disease (HP:0006530)2.56232154
51Recurrent abscess formation (HP:0002722)2.55810258
52Attenuation of retinal blood vessels (HP:0007843)2.55743879
53Medial flaring of the eyebrow (HP:0010747)2.52952236
54Abnormality of mucopolysaccharide metabolism (HP:0011020)2.47692941
55Abnormality of polysaccharide metabolism (HP:0011012)2.47692941
56Abnormality of glycosaminoglycan metabolism (HP:0004371)2.47692941
57Inability to walk (HP:0002540)2.46977176
58Dysostosis multiplex (HP:0000943)2.45179934
59Increased neuronal autofluorescent lipopigment (HP:0002074)2.44071052
60Abnormality of the lower motor neuron (HP:0002366)2.43054746
61Glomerulonephritis (HP:0000099)2.42419143
62Arterial thrombosis (HP:0004420)2.42416123
63Autoimmune thrombocytopenia (HP:0001973)2.39344131
64Chronic hepatic failure (HP:0100626)2.39029323
65Pendular nystagmus (HP:0012043)2.38697158
66Progressive inability to walk (HP:0002505)2.38319701
67Type II lissencephaly (HP:0007260)2.37568677
68Nephritis (HP:0000123)2.36960220
69Abnormal respiratory motile cilium morphology (HP:0005938)2.36565563
70Abnormal respiratory epithelium morphology (HP:0012253)2.36565563
71Abnormality of the renal collecting system (HP:0004742)2.34083269
72Cortical dysplasia (HP:0002539)2.32084512
73Renal cortical cysts (HP:0000803)2.31360476
74Fair hair (HP:0002286)2.30593236
75Broad-based gait (HP:0002136)2.29168084
76Abnormal drinking behavior (HP:0030082)2.28967382
77Polydipsia (HP:0001959)2.28967382
78Abnormality of complement system (HP:0005339)2.28392825
79Abnormality of the pons (HP:0007361)2.26855865
80Vacuolated lymphocytes (HP:0001922)2.26190980
81Small hand (HP:0200055)2.25338433
82Bronchitis (HP:0012387)2.24995832
83Hand muscle atrophy (HP:0009130)2.24453382
84Increased CSF protein (HP:0002922)2.22475490
85Hydroxyprolinuria (HP:0003080)2.22219082
86Abnormality of proline metabolism (HP:0010907)2.22219082
87Abnormality of glutamine family amino acid metabolism (HP:0010902)2.21885965
88Hematochezia (HP:0002573)2.21110299
89Retinal atrophy (HP:0001105)2.19516621
90Increased corneal curvature (HP:0100692)2.17647261
91Keratoconus (HP:0000563)2.17647261
92Hypoplasia of the pons (HP:0012110)2.14956013
93Bronchiectasis (HP:0002110)2.14595338
94Aplasia/Hypoplasia of the tongue (HP:0010295)2.14306795
95Aortic aneurysm (HP:0004942)2.14028715
96Absent frontal sinuses (HP:0002688)2.12652338
97Asymmetric septal hypertrophy (HP:0001670)2.11919888
98Disinhibition (HP:0000734)2.11643148
99Colitis (HP:0002583)2.11074660
100Decreased electroretinogram (ERG) amplitude (HP:0000654)2.10607655
101Lissencephaly (HP:0001339)2.10602474
102Axonal loss (HP:0003447)2.10347226
103Gout (HP:0001997)2.10003295
104Abnormality of the nasal septum (HP:0000419)2.09395477
105Concave nail (HP:0001598)2.09053022
106Peritonitis (HP:0002586)2.08191121
107Sclerocornea (HP:0000647)2.07808953
108Gonadotropin excess (HP:0000837)2.06124062
109Congenital hepatic fibrosis (HP:0002612)2.05728295
110Gait imbalance (HP:0002141)2.04875142
111Tubular atrophy (HP:0000092)2.04594207
112Orchitis (HP:0100796)2.03878134
113Periodontitis (HP:0000704)2.02804977
114Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)2.02654452
115Tubulointerstitial fibrosis (HP:0005576)2.01124494
116Male pseudohermaphroditism (HP:0000037)2.01055667
117Osteolytic defects of the phalanges of the hand (HP:0009771)2.00225540
118Osteolytic defects of the hand bones (HP:0009699)2.00225540
119Global brain atrophy (HP:0002283)1.99243103
120Thoracic kyphosis (HP:0002942)1.98568371
121Acute myeloid leukemia (HP:0004808)1.97925176
122Congenital primary aphakia (HP:0007707)1.97443919
123Decreased central vision (HP:0007663)1.97386781
124Loss of speech (HP:0002371)1.96513479
125Generalized hypopigmentation of hair (HP:0011358)1.96345442
126Nephrogenic diabetes insipidus (HP:0009806)1.93405187
127Abnormality of purine metabolism (HP:0004352)1.93177196
128Hemorrhage of the eye (HP:0011885)1.92182230
129Short hallux (HP:0010109)1.91185889
130Breast hypoplasia (HP:0003187)1.91137454
131Abnormality of the thoracic spine (HP:0100711)1.90510635
132Spastic tetraparesis (HP:0001285)1.90208314
133Intrahepatic cholestasis (HP:0001406)1.89822072
134Bony spicule pigmentary retinopathy (HP:0007737)1.88538514
135Anencephaly (HP:0002323)1.88438712
136Febrile seizures (HP:0002373)1.88339733
137Stomach cancer (HP:0012126)1.87761501
138Genital tract atresia (HP:0001827)1.87490505
139Widely spaced teeth (HP:0000687)1.86613254
140Truncal obesity (HP:0001956)1.86341330
141Cardiovascular calcification (HP:0011915)1.85320090
142Vascular calcification (HP:0004934)1.84544958
143Tubulointerstitial abnormality (HP:0001969)1.84074954
144Myositis (HP:0100614)1.83713238
145Vaginal atresia (HP:0000148)1.83525141
146Azoospermia (HP:0000027)1.82410657
147Abnormal ciliary motility (HP:0012262)1.82410270
148Abnormal spermatogenesis (HP:0008669)1.82041900
149Recurrent fungal infections (HP:0002841)1.81850247
150Volvulus (HP:0002580)1.81805081
151Peripheral demyelination (HP:0011096)1.81215608
152Conjunctival telangiectasia (HP:0000524)1.80326718
153Hypoplastic ischia (HP:0003175)1.80151696
154Aplasia/Hypoplasia of the hallux (HP:0008362)1.79682925
155Congenital sensorineural hearing impairment (HP:0008527)1.79576013
156Abnormal biliary tract physiology (HP:0012439)1.79479511
157Bile duct proliferation (HP:0001408)1.79479511
158Abnormality of sulfur amino acid metabolism (HP:0004339)1.79238337
159Aplasia/Hypoplasia of the sternum (HP:0006714)1.79183957
160Xanthomatosis (HP:0000991)1.79086662
161Fatigue (HP:0012378)1.79047814
162Tubulointerstitial nephritis (HP:0001970)1.78205329
163Tachypnea (HP:0002789)1.77840726
164Aplasia/Hypoplasia of the uvula (HP:0010293)1.76239017
165Urethral obstruction (HP:0000796)1.76163711
166Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.75893131
167Abnormality of macrophages (HP:0004311)1.75143394
168High pitched voice (HP:0001620)1.74389292
169Recurrent skin infections (HP:0001581)1.74205286
170Abnormality of liposaccharide metabolism (HP:0010968)1.73783744
171Abnormality of glycosphingolipid metabolism (HP:0004343)1.73783744
172Abnormality of glycolipid metabolism (HP:0010969)1.73783744
173Abnormality of the vasculature of the conjunctiva (HP:0008054)1.73296618
174Poor coordination (HP:0002370)1.73239242
175Short tibia (HP:0005736)1.72319475
176Recurrent viral infections (HP:0004429)1.72282456
177Upper limb amyotrophy (HP:0009129)1.72235263
178Distal upper limb amyotrophy (HP:0007149)1.72235263
179Stenosis of the external auditory canal (HP:0000402)1.71956276
180Abnormality of monocarboxylic acid metabolism (HP:0010996)1.70414013
181Duplicated collecting system (HP:0000081)1.69803579
182Retrobulbar optic neuritis (HP:0100654)1.69720806
183Metabolic alkalosis (HP:0200114)1.69539279
184Postaxial foot polydactyly (HP:0001830)1.69344580
185Chromsome breakage (HP:0040012)1.68836533
186Polyuria (HP:0000103)1.67762240
187Abnormality of renin-angiotensin system (HP:0000847)1.67666322
188Abnormal rod and cone electroretinograms (HP:0008323)1.67609561
189Methylmalonic acidemia (HP:0002912)1.65411402
190Aplasia/Hypoplasia of the spleen (HP:0010451)1.64317471
191Highly arched eyebrow (HP:0002553)1.62830359
192Abnormality of DNA repair (HP:0003254)1.62381055
193Absent speech (HP:0001344)1.61512569
194Cerebellar dysplasia (HP:0007033)1.61120418

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ACVR1B4.59667632
2PDK44.02747748
3PDK34.02747748
4BMPR1B3.99400662
5ADRBK22.68573449
6PDK22.66351597
7GRK12.49321461
8CASK2.47577847
9CDK122.43168926
10TLK12.40198857
11ZAK2.32894014
12TESK12.22992496
13ERN12.22034738
14PKN22.15829971
15CAMK1G2.13508295
16TGFBR22.12522651
17CAMK1D2.00405847
18RIPK11.98979180
19TRIB31.90889842
20PRKD31.81011336
21MKNK21.77586502
22STK101.77144065
23MAP4K21.71598514
24OXSR11.70930872
25STK391.70816758
26PIK3CA1.70695406
27MAPK131.69918124
28TAOK31.69603863
29STK31.61693956
30IRAK31.61582656
31EEF2K1.60486673
32WNK41.60483990
33NEK21.52489710
34JAK11.50651007
35DAPK21.50395043
36INSRR1.50286664
37FLT31.49802114
38TGFBR11.48467281
39TYK21.46018400
40STK381.38096074
41AKT31.32436470
42FRK1.32075586
43ADRBK11.31955910
44RPS6KA41.31738044
45CAMKK21.31479224
46ZAP701.31319220
47PTK2B1.30824638
48TBK11.26097572
49NEK91.24878410
50LATS11.24759644
51CDK61.24091836
52PINK11.23556899
53PDK11.23534137
54PTK61.22640173
55RIPK41.21353623
56WNK11.20811918
57MAP3K141.19596918
58EPHB11.19419767
59STK38L1.15033811
60PAK41.09217644
61NTRK31.07304087
62PAK31.04920449
63NUAK11.04803153
64PDGFRA1.01589340
65TNIK1.00317201
66CSF1R0.99008501
67MAPK150.97905037
68TEC0.97801633
69SGK20.96381458
70MTOR0.95911342
71KIT0.93556249
72BRSK20.92731854
73PNCK0.92728535
74PDPK10.91950207
75FGFR40.88943390
76ICK0.87987839
77JAK20.86782401
78MAP3K130.85691850
79SIK10.82752584
80PDGFRB0.81414797
81JAK30.80173741
82SCYL20.79760575
83MAP3K40.77593343
84FGFR30.77495936
85MAP4K10.75661622
86PRKCG0.75129139
87RPS6KA60.74807411
88PIM10.74017584
89TTK0.73442394
90CHUK0.73210278
91PRKCE0.72329178
92BLK0.70511136
93NEK10.69068563
94BRD40.67062500
95LRRK20.66051802
96CAMKK10.65000193
97MAP3K50.64702097
98SGK30.64113810
99IKBKE0.62863930
100MELK0.61129705
101DMPK0.60867740
102CDK40.60720714
103CSK0.60697402
104IKBKB0.59779884
105WNK30.59724693
106SGK2230.59475701
107SGK4940.59475701
108CDC70.59247864
109PLK20.59240643
110EGFR0.59092372
111MAPKAPK30.58647529
112ITK0.58407264
113TTN0.57609349
114FGFR20.57565188
115WEE10.56532673
116MAP3K20.56003895
117ERBB20.55370970
118MARK10.54705086
119PTK20.54635106
120MAP2K60.54352670
121NTRK20.53157553
122MAP2K30.52930069
123MKNK10.52904640
124MST40.52255666
125NTRK10.52173759
126STK110.51464836
127DYRK1B0.51291804
128NLK0.50704032
129TXK0.49959215
130RET0.49483404
131MAP2K10.49108541
132PAK20.48651373
133HCK0.48289986
134ATR0.47354682
135BTK0.47039207
136CAMK10.46798657
137TRPM70.46608296
138CAMK2A0.45698899
139RPS6KA50.44974211
140MAPKAPK50.44923556
141PKN10.44573671
142CAMK40.43145915
143MAP3K80.42142242
144MUSK0.41676048
145PRKACA0.41296399
146SGK10.40454795
147STK40.39961493
148PRKCQ0.39588202
149IRAK10.39407619
150KSR20.39404154
151EPHA30.39160899
152PRKAA20.38500486
153IRAK40.38251935
154MAP3K100.37612430
155MAP3K70.37006638
156TAOK10.36236958
157PHKG20.36139325
158PHKG10.36139325
159PRKAA10.35943589
160PRKCI0.35164011
161ATM0.34810172
162CHEK20.33952896
163CSNK1A10.32445923
164TIE10.32182716
165TNK20.30771855
166CSNK1G20.30022671
167CSNK1D0.29966780
168PRKCZ0.28627257
169PRKCA0.28157925
170NEK60.27240406
171PRKCH0.26995013
172PLK10.26568570
173GRK70.26502251
174PRKACB0.26257780

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.91767992
2Linoleic acid metabolism_Homo sapiens_hsa005912.60632586
3Glycosaminoglycan degradation_Homo sapiens_hsa005312.52355504
4Staphylococcus aureus infection_Homo sapiens_hsa051502.48901612
5Phototransduction_Homo sapiens_hsa047442.48026806
6alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.40255320
7Nicotine addiction_Homo sapiens_hsa050332.23318264
8Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.10304774
9Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.04821256
10Maturity onset diabetes of the young_Homo sapiens_hsa049502.02029961
11Homologous recombination_Homo sapiens_hsa034401.93238713
12Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.93231689
13Nitrogen metabolism_Homo sapiens_hsa009101.89295774
14Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.88671931
15Selenocompound metabolism_Homo sapiens_hsa004501.81961592
16Fatty acid degradation_Homo sapiens_hsa000711.78866969
17Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.76389320
18Pyruvate metabolism_Homo sapiens_hsa006201.72132322
19Ether lipid metabolism_Homo sapiens_hsa005651.69721967
20Lysosome_Homo sapiens_hsa041421.67431487
21PPAR signaling pathway_Homo sapiens_hsa033201.65421274
22Propanoate metabolism_Homo sapiens_hsa006401.65078518
23Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.64338324
24Leishmaniasis_Homo sapiens_hsa051401.61316886
25Osteoclast differentiation_Homo sapiens_hsa043801.61031945
26Fanconi anemia pathway_Homo sapiens_hsa034601.59595290
27Pentose and glucuronate interconversions_Homo sapiens_hsa000401.57544840
28Basal transcription factors_Homo sapiens_hsa030221.57093340
29Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.55994044
30Complement and coagulation cascades_Homo sapiens_hsa046101.55333236
31Steroid hormone biosynthesis_Homo sapiens_hsa001401.54929605
32Taste transduction_Homo sapiens_hsa047421.51562121
33Morphine addiction_Homo sapiens_hsa050321.50298041
34Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.48146074
35Antigen processing and presentation_Homo sapiens_hsa046121.48097210
36Chemical carcinogenesis_Homo sapiens_hsa052041.46231433
37Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.45230823
38Lysine degradation_Homo sapiens_hsa003101.38564132
39Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.38301378
40Toll-like receptor signaling pathway_Homo sapiens_hsa046201.35617941
41Other glycan degradation_Homo sapiens_hsa005111.35204843
42B cell receptor signaling pathway_Homo sapiens_hsa046621.33411596
43Histidine metabolism_Homo sapiens_hsa003401.32872821
44Olfactory transduction_Homo sapiens_hsa047401.29239102
45ABC transporters_Homo sapiens_hsa020101.29152568
46Retinol metabolism_Homo sapiens_hsa008301.29055953
47Serotonergic synapse_Homo sapiens_hsa047261.27711757
48Glutamatergic synapse_Homo sapiens_hsa047241.27446171
49Primary bile acid biosynthesis_Homo sapiens_hsa001201.27114953
50Tryptophan metabolism_Homo sapiens_hsa003801.26762606
51Fatty acid metabolism_Homo sapiens_hsa012121.26725163
52Carbohydrate digestion and absorption_Homo sapiens_hsa049731.25916531
53Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.24849036
54Circadian entrainment_Homo sapiens_hsa047131.21794092
55Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.21336225
56NOD-like receptor signaling pathway_Homo sapiens_hsa046211.20046005
57Legionellosis_Homo sapiens_hsa051341.19974403
58Dorso-ventral axis formation_Homo sapiens_hsa043201.19342081
59Toxoplasmosis_Homo sapiens_hsa051451.17856274
60Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.13943086
61Insulin secretion_Homo sapiens_hsa049111.13351482
62RNA degradation_Homo sapiens_hsa030181.11222962
63Pentose phosphate pathway_Homo sapiens_hsa000301.10830063
64Tuberculosis_Homo sapiens_hsa051521.10784704
65Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.08726405
66Glucagon signaling pathway_Homo sapiens_hsa049221.08579519
67Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.07652094
68Glycerolipid metabolism_Homo sapiens_hsa005611.07493412
69Insulin resistance_Homo sapiens_hsa049311.04264048
70NF-kappa B signaling pathway_Homo sapiens_hsa040641.02863490
71Fatty acid biosynthesis_Homo sapiens_hsa000611.00846401
72Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.98053433
73Carbon metabolism_Homo sapiens_hsa012000.97557790
74GABAergic synapse_Homo sapiens_hsa047270.97350359
75Chronic myeloid leukemia_Homo sapiens_hsa052200.95322945
76Arginine biosynthesis_Homo sapiens_hsa002200.95143224
77Measles_Homo sapiens_hsa051620.94496290
78Ovarian steroidogenesis_Homo sapiens_hsa049130.91935373
79Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.91471163
80Vitamin B6 metabolism_Homo sapiens_hsa007500.90835303
81Calcium signaling pathway_Homo sapiens_hsa040200.90254466
82Arachidonic acid metabolism_Homo sapiens_hsa005900.90127488
83Vitamin digestion and absorption_Homo sapiens_hsa049770.89993904
84Protein export_Homo sapiens_hsa030600.89081598
85Adipocytokine signaling pathway_Homo sapiens_hsa049200.88646722
86RNA polymerase_Homo sapiens_hsa030200.88176114
87Influenza A_Homo sapiens_hsa051640.88066412
88Mineral absorption_Homo sapiens_hsa049780.86234200
89Cholinergic synapse_Homo sapiens_hsa047250.85754401
90Starch and sucrose metabolism_Homo sapiens_hsa005000.84591679
91mTOR signaling pathway_Homo sapiens_hsa041500.82706009
92Pancreatic cancer_Homo sapiens_hsa052120.81914518
93Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.81762915
94TNF signaling pathway_Homo sapiens_hsa046680.81401911
95Vascular smooth muscle contraction_Homo sapiens_hsa042700.81384839
96Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.79896292
97Central carbon metabolism in cancer_Homo sapiens_hsa052300.79821668
98Caffeine metabolism_Homo sapiens_hsa002320.79318005
99Gastric acid secretion_Homo sapiens_hsa049710.77277505
100Fructose and mannose metabolism_Homo sapiens_hsa000510.77213294
101Adherens junction_Homo sapiens_hsa045200.77191106
102Phagosome_Homo sapiens_hsa041450.76699918
103Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.76699818
104beta-Alanine metabolism_Homo sapiens_hsa004100.76564926
105Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.75626955
106Salivary secretion_Homo sapiens_hsa049700.75488132
107One carbon pool by folate_Homo sapiens_hsa006700.73769353
108Acute myeloid leukemia_Homo sapiens_hsa052210.73498648
109Bile secretion_Homo sapiens_hsa049760.73423049
110Pertussis_Homo sapiens_hsa051330.71835734
111Small cell lung cancer_Homo sapiens_hsa052220.71077709
112Oxidative phosphorylation_Homo sapiens_hsa001900.70749207
113Circadian rhythm_Homo sapiens_hsa047100.70202136
114Type II diabetes mellitus_Homo sapiens_hsa049300.68158415
115Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.66687552
116Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.66249893
117Amoebiasis_Homo sapiens_hsa051460.65916220
118Long-term depression_Homo sapiens_hsa047300.65908282
119RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.65587795
120Peroxisome_Homo sapiens_hsa041460.65336329
121Apoptosis_Homo sapiens_hsa042100.64964166
122Dopaminergic synapse_Homo sapiens_hsa047280.64208614
123Sulfur metabolism_Homo sapiens_hsa009200.64061098
124Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.63988918
125Salmonella infection_Homo sapiens_hsa051320.63311104
126Herpes simplex infection_Homo sapiens_hsa051680.62825486
127Leukocyte transendothelial migration_Homo sapiens_hsa046700.61825319
128Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.61484056
129Oxytocin signaling pathway_Homo sapiens_hsa049210.60123212
130Regulation of autophagy_Homo sapiens_hsa041400.59764707
131cAMP signaling pathway_Homo sapiens_hsa040240.58070487
132AMPK signaling pathway_Homo sapiens_hsa041520.57778802
133Cardiac muscle contraction_Homo sapiens_hsa042600.57729500
134Renin-angiotensin system_Homo sapiens_hsa046140.56253716
135Biosynthesis of amino acids_Homo sapiens_hsa012300.55783223
136Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.52743696
137Butanoate metabolism_Homo sapiens_hsa006500.52283742
138HIF-1 signaling pathway_Homo sapiens_hsa040660.50944278
139Platelet activation_Homo sapiens_hsa046110.50826026
140Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.50427994
141TGF-beta signaling pathway_Homo sapiens_hsa043500.50139428
142Hepatitis C_Homo sapiens_hsa051600.49692230
143Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.49591470
144Cysteine and methionine metabolism_Homo sapiens_hsa002700.49174809
145Inositol phosphate metabolism_Homo sapiens_hsa005620.49115311
146Prostate cancer_Homo sapiens_hsa052150.48992569
147Malaria_Homo sapiens_hsa051440.48292254
148Focal adhesion_Homo sapiens_hsa045100.47525185
149Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.47477685
150Neurotrophin signaling pathway_Homo sapiens_hsa047220.47290647
151Glycerophospholipid metabolism_Homo sapiens_hsa005640.47195079
152Proteoglycans in cancer_Homo sapiens_hsa052050.45497817
153Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.44794748
154Hepatitis B_Homo sapiens_hsa051610.44738558
155Renin secretion_Homo sapiens_hsa049240.44705584
156AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.44513950
157Aldosterone synthesis and secretion_Homo sapiens_hsa049250.44053198
158Fat digestion and absorption_Homo sapiens_hsa049750.43926711
159Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.43634233
160Viral carcinogenesis_Homo sapiens_hsa052030.43465121
161Pancreatic secretion_Homo sapiens_hsa049720.42866512
162Glioma_Homo sapiens_hsa052140.42234208
163Intestinal immune network for IgA production_Homo sapiens_hsa046720.42080958
164Hedgehog signaling pathway_Homo sapiens_hsa043400.37960173
165Melanoma_Homo sapiens_hsa052180.36925646
166Huntingtons disease_Homo sapiens_hsa050160.36317923
167Nucleotide excision repair_Homo sapiens_hsa034200.33682175
168Cocaine addiction_Homo sapiens_hsa050300.32335172
169Asthma_Homo sapiens_hsa053100.31865331
170Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.31137368
171Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.31121675
172Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.30994776
173Basal cell carcinoma_Homo sapiens_hsa052170.29281898
174Amphetamine addiction_Homo sapiens_hsa050310.29089222
175MAPK signaling pathway_Homo sapiens_hsa040100.28950720

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