POMC

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 preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1respiratory system process (GO:0003016)7.45585718
2positive regulation of catecholamine secretion (GO:0033605)6.76535599
3positive regulation of synaptic transmission, dopaminergic (GO:0032226)6.44385543
4negative regulation of amino acid transport (GO:0051956)6.11064883
5positive regulation of prostaglandin secretion (GO:0032308)6.01809878
6response to parathyroid hormone (GO:0071107)5.82595359
7iron coordination entity transport (GO:1901678)5.65872880
8synaptic vesicle maturation (GO:0016188)5.54460707
9regulation of glutamate secretion (GO:0014048)5.52486297
10neuromuscular process controlling posture (GO:0050884)5.48371790
11purine deoxyribonucleotide catabolic process (GO:0009155)5.18554786
12negative regulation of synaptic transmission, GABAergic (GO:0032229)5.14317337
13regulation of transmission of nerve impulse (GO:0051969)5.05635344
14regulation of prostaglandin secretion (GO:0032306)4.95976068
15positive regulation of gamma-delta T cell activation (GO:0046645)4.92428551
16viral transcription (GO:0019083)4.86673453
17C4-dicarboxylate transport (GO:0015740)4.86060916
18axonal fasciculation (GO:0007413)4.78773848
19positive regulation of amine transport (GO:0051954)4.72427386
20negative regulation of cytosolic calcium ion concentration (GO:0051481)4.63814129
21translational termination (GO:0006415)4.58733117
22regulation of short-term neuronal synaptic plasticity (GO:0048172)4.56284555
23locomotory exploration behavior (GO:0035641)4.48958864
24DNA deamination (GO:0045006)4.47937698
25regulation of glutamate receptor signaling pathway (GO:1900449)4.46458692
26adult feeding behavior (GO:0008343)4.46338261
27response to acidic pH (GO:0010447)4.40095681
28regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.39998215
29proline transport (GO:0015824)4.39865121
30potassium ion export (GO:0071435)4.39045060
31immunoglobulin mediated immune response (GO:0016064)4.38279891
32positive regulation of B cell differentiation (GO:0045579)4.17310010
33translational elongation (GO:0006414)4.09614448
34Arp2/3 complex-mediated actin nucleation (GO:0034314)4.08905785
35regulation of synaptic vesicle exocytosis (GO:2000300)4.05918261
36NIK/NF-kappaB signaling (GO:0038061)4.04629823
37response to pheromone (GO:0019236)4.03894204
38ribosomal small subunit assembly (GO:0000028)4.03442152
39positive regulation of icosanoid secretion (GO:0032305)3.92533257
40response to dietary excess (GO:0002021)3.91986233
41positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.91180324
42deoxyribonucleotide catabolic process (GO:0009264)3.91025022
43oxygen transport (GO:0015671)3.88033302
44neurotransmitter secretion (GO:0007269)3.84593257
45negative regulation of neurotransmitter secretion (GO:0046929)3.84576435
46deoxyribose phosphate catabolic process (GO:0046386)3.80771236
47clathrin coat assembly (GO:0048268)3.76712962
48SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.74256099
49negative regulation of B cell apoptotic process (GO:0002903)3.70614431
50synaptic vesicle exocytosis (GO:0016079)3.69511690
51neuron cell-cell adhesion (GO:0007158)3.69034273
52cerebellar Purkinje cell layer development (GO:0021680)3.68346278
53viral life cycle (GO:0019058)3.67973977
54cardiac left ventricle morphogenesis (GO:0003214)3.67156809
55negative regulation of glycoprotein biosynthetic process (GO:0010561)3.66668013
56deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.65221881
57regulation of icosanoid secretion (GO:0032303)3.64483097
58positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.62768918
59cotranslational protein targeting to membrane (GO:0006613)3.62764631
60regulation of gamma-delta T cell differentiation (GO:0045586)3.62713389
61protein targeting to ER (GO:0045047)3.62682321
62activation of protein kinase A activity (GO:0034199)3.61974221
63dendrite morphogenesis (GO:0048813)3.61298706
64negative regulation of organic acid transport (GO:0032891)3.59784126
65regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.55700761
66regulation of B cell differentiation (GO:0045577)3.54325087
67negative regulation of T cell receptor signaling pathway (GO:0050860)3.52602234
68negative regulation of inclusion body assembly (GO:0090084)3.52561756
69neuron recognition (GO:0008038)3.52493686
70purine deoxyribonucleotide metabolic process (GO:0009151)3.51635231
71labyrinthine layer development (GO:0060711)3.51214573
72positive regulation of fatty acid transport (GO:2000193)3.50864779
73protein localization to endoplasmic reticulum (GO:0070972)3.49628127
74regulation of gamma-delta T cell activation (GO:0046643)3.49261648
75positive regulation of synaptic transmission, GABAergic (GO:0032230)3.48731844
76B cell mediated immunity (GO:0019724)3.47191175
77drinking behavior (GO:0042756)3.43699156
78establishment of protein localization to endoplasmic reticulum (GO:0072599)3.43556796
79regulation of alpha-beta T cell proliferation (GO:0046640)3.43208379
80regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.42222683
81regulation of synaptic vesicle transport (GO:1902803)3.41906275
82cellular protein complex disassembly (GO:0043624)3.41827988
83purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)3.40916634
84mannosylation (GO:0097502)3.40616382
85positive regulation of vasculogenesis (GO:2001214)3.37497350
86neuronal action potential propagation (GO:0019227)3.36246652
87muscle cell cellular homeostasis (GO:0046716)3.36215053
88detection of temperature stimulus involved in sensory perception of pain (GO:0050965)3.35725796
89detection of temperature stimulus involved in sensory perception (GO:0050961)3.35725796
90succinate metabolic process (GO:0006105)3.35428235
91negative regulation of B cell mediated immunity (GO:0002713)3.34655928
92negative regulation of immunoglobulin mediated immune response (GO:0002890)3.34655928
93regulation of vesicle fusion (GO:0031338)3.32984839
94dendritic spine morphogenesis (GO:0060997)3.32537299
95actin nucleation (GO:0045010)3.31987098
96purine nucleotide salvage (GO:0032261)3.31922338
97glutamate secretion (GO:0014047)3.26954623
98neurotransmitter transport (GO:0006836)3.25514310
99regulation of amino acid transport (GO:0051955)3.24019358
100regulation of regulatory T cell differentiation (GO:0045589)3.23848361
101eating behavior (GO:0042755)3.22517256
102nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.21763746
103positive regulation of vascular permeability (GO:0043117)3.20211917
104sexual reproduction (GO:0019953)3.18308280
105ribosomal small subunit biogenesis (GO:0042274)3.18290954
106melanin biosynthetic process (GO:0042438)3.18190241
107positive regulation of alpha-beta T cell proliferation (GO:0046641)3.17947381
108neuronal ion channel clustering (GO:0045161)3.17749304
109regulation of synaptic transmission, dopaminergic (GO:0032225)3.14610255
110regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.14585746
111gamma-aminobutyric acid signaling pathway (GO:0007214)3.14208137
112iron-sulfur cluster assembly (GO:0016226)3.13171906
113metallo-sulfur cluster assembly (GO:0031163)3.13171906
114base-excision repair, AP site formation (GO:0006285)3.12772741
115positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.12586811
116regulation of synaptic transmission, GABAergic (GO:0032228)3.11929807
117glycogen catabolic process (GO:0005980)3.10302815
118atrial cardiac muscle cell action potential (GO:0086014)3.09222433
119positive thymic T cell selection (GO:0045059)3.08093331
120negative regulation of appetite (GO:0032099)3.07679261
121negative regulation of response to food (GO:0032096)3.07679261
122ATP hydrolysis coupled proton transport (GO:0015991)3.06865505
123energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.06865505
124* neuropeptide signaling pathway (GO:0007218)3.06508917
125cell communication by electrical coupling (GO:0010644)3.06300153
126cellular response to interferon-beta (GO:0035458)3.06136642
127regulation of germinal center formation (GO:0002634)3.05393945
128regulation of B cell receptor signaling pathway (GO:0050855)3.05037748
129positive regulation of amino acid transport (GO:0051957)3.02078556
130layer formation in cerebral cortex (GO:0021819)3.02000171
131negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.01676520
132exploration behavior (GO:0035640)3.00834369
133melanin metabolic process (GO:0006582)2.99081393
134potassium ion homeostasis (GO:0055075)2.99027650
135antigen processing and presentation of endogenous antigen (GO:0019883)2.98650402
136regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.97863156
137regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)2.97863156
138negative regulation of cholesterol transport (GO:0032375)2.97021345
139negative regulation of sterol transport (GO:0032372)2.97021345
140vocalization behavior (GO:0071625)2.96893334
141protein localization to synapse (GO:0035418)2.96841295
142deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.95536919
143B cell receptor signaling pathway (GO:0050853)2.95366168
144L-phenylalanine metabolic process (GO:0006558)2.95166048
145erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.95166048
146cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.95051115
147membrane repolarization (GO:0086009)2.93803667
148positive regulation of neurological system process (GO:0031646)2.93222776
149protein complex disassembly (GO:0043241)2.92831722
150nucleotide salvage (GO:0043173)2.92320756
151response to interferon-beta (GO:0035456)2.91651970
152phosphatidylserine acyl-chain remodeling (GO:0036150)2.91416173
153protein neddylation (GO:0045116)2.90606037
154regulation of chemokine biosynthetic process (GO:0045073)2.90216938
155glucan catabolic process (GO:0009251)2.89255863
156positive regulation of interleukin-17 production (GO:0032740)2.88515645
157negative regulation of neurotransmitter transport (GO:0051589)2.87076992
158regulation of amyloid precursor protein catabolic process (GO:1902991)2.86935805
159response to peptidoglycan (GO:0032494)2.85342922
160pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.84823364
161negative regulation of type I interferon production (GO:0032480)2.84399115
162regulation of B cell apoptotic process (GO:0002902)2.84135226
163negative regulation of growth of symbiont in host (GO:0044130)2.84053120
164negative regulation of growth of symbiont involved in interaction with host (GO:0044146)2.84053120
165modulation of growth of symbiont involved in interaction with host (GO:0044144)2.84053120
166regulation of growth of symbiont in host (GO:0044126)2.84053120
167transferrin transport (GO:0033572)2.83763639
168positive regulation of potassium ion transmembrane transport (GO:1901381)2.83752915
169sensory perception of pain (GO:0019233)2.83351455
170negative regulation of amine transport (GO:0051953)2.82760211
171negative regulation of glycoprotein metabolic process (GO:1903019)2.82302382
172mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.82213847
173auditory receptor cell stereocilium organization (GO:0060088)2.81137565
174ionotropic glutamate receptor signaling pathway (GO:0035235)2.80524208
175genetic imprinting (GO:0071514)2.79475520
1762-deoxyribonucleotide metabolic process (GO:0009394)2.78684001
177negative regulation of thymocyte apoptotic process (GO:0070244)2.78433918
178positive regulation of macrophage derived foam cell differentiation (GO:0010744)2.77418145
179translational initiation (GO:0006413)2.76872419
180antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.75785484
181positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)2.75186582
182positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)2.71621329
183negative T cell selection (GO:0043383)2.70714400
184mast cell activation (GO:0045576)2.70322809
185negative regulation of T cell apoptotic process (GO:0070233)2.70118971
186deoxyribose phosphate metabolic process (GO:0019692)2.70029340
187macromolecular complex disassembly (GO:0032984)2.69400137
188regulation of cholesterol efflux (GO:0010874)2.68925838
189negative thymic T cell selection (GO:0045060)2.68685206
190positive regulation of T cell mediated cytotoxicity (GO:0001916)2.65516795
191positive regulation of chemokine biosynthetic process (GO:0045080)2.64803796
192phosphatidylinositol acyl-chain remodeling (GO:0036149)2.64731880
193regulation of T cell mediated cytotoxicity (GO:0001914)2.62255819
194positive regulation of leukocyte mediated cytotoxicity (GO:0001912)2.59503574
195interferon-gamma-mediated signaling pathway (GO:0060333)2.54698509
196cytidine catabolic process (GO:0006216)2.53899569
197cytidine deamination (GO:0009972)2.53899569
198cytidine metabolic process (GO:0046087)2.53899569
199negative regulation of lymphocyte apoptotic process (GO:0070229)2.53573023
200cellular response to dsRNA (GO:0071359)2.52687673

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human7.73689581
2SOX9_22984422_ChIP-ChIP_TESTIS_Rat5.43536550
3IRF8_22096565_ChIP-ChIP_GC-B_Human5.40269369
4CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons4.65098183
5BP1_19119308_ChIP-ChIP_Hs578T_Human4.39488515
6ZFP322A_24550733_ChIP-Seq_MESCs_Mouse3.84839715
7IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.11351746
8SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.85069258
9* RARB_27405468_Chip-Seq_BRAIN_Mouse2.84077040
10* REST_21632747_ChIP-Seq_MESCs_Mouse2.79412763
11ERG_21242973_ChIP-ChIP_JURKAT_Human2.73782181
12IRF8_21731497_ChIP-ChIP_J774_Mouse2.71132326
13IKZF1_21737484_ChIP-ChIP_HCT116_Human2.70311504
14SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.68049792
15TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.66736460
16MTF2_20144788_ChIP-Seq_MESCs_Mouse2.57737183
17SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.55049084
18MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.50990488
19STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.50606200
20SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.41072130
21HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.39375262
22IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.37485510
23SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.34168157
24AR_21572438_ChIP-Seq_LNCaP_Human2.32395265
25LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.31660215
26NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.28081888
27SMAD_19615063_ChIP-ChIP_OVARY_Human2.25627158
28ELF1_17652178_ChIP-ChIP_JURKAT_Human2.23413903
29JARID2_20075857_ChIP-Seq_MESCs_Mouse2.23392557
30REST_18959480_ChIP-ChIP_MESCs_Mouse2.22944714
31RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.19647508
32SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.18704631
33JARID2_20064375_ChIP-Seq_MESCs_Mouse2.18228877
34SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.16840962
35EZH2_27294783_Chip-Seq_ESCs_Mouse2.16348497
36EZH2_27304074_Chip-Seq_ESCs_Mouse2.13920755
37MYB_26560356_Chip-Seq_TH2_Human2.11621005
38TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.07372557
39SCL_19346495_ChIP-Seq_HPC-7_Human2.05587201
40SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.02423258
41SUZ12_27294783_Chip-Seq_ESCs_Mouse2.01462444
42UTX_26944678_Chip-Seq_JUKART_Human1.99604932
43FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.99281916
44MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.98313647
45EED_16625203_ChIP-ChIP_MESCs_Mouse1.96252514
46SPI1_23547873_ChIP-Seq_NB4_Human1.93303047
47RNF2_18974828_ChIP-Seq_MESCs_Mouse1.90048434
48EZH2_18974828_ChIP-Seq_MESCs_Mouse1.90048434
49STAT4_19710469_ChIP-ChIP_TH1__Mouse1.85819266
50VDR_21846776_ChIP-Seq_THP-1_Human1.85572810
51BCL6_27268052_Chip-Seq_Bcells_Human1.85159135
52DROSHA_22980978_ChIP-Seq_HELA_Human1.76880623
53VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.74836119
54RNF2_27304074_Chip-Seq_ESCs_Mouse1.69853301
55ESR1_15608294_ChIP-ChIP_MCF-7_Human1.67879281
56JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.67461154
57CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.66167053
58VDR_24763502_ChIP-Seq_THP-1_Human1.65607817
59CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.64965169
60P300_27268052_Chip-Seq_Bcells_Human1.63212373
61PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.59773417
62ZNF274_21170338_ChIP-Seq_K562_Hela1.59221547
63CTBP2_25329375_ChIP-Seq_LNCAP_Human1.58073531
64STAT1_20625510_ChIP-Seq_HELA_Human1.57546712
65E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.57274285
66ZFP281_18757296_ChIP-ChIP_E14_Mouse1.56967286
67EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.56612716
68EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.55619519
69ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.55541889
70P68_20966046_ChIP-Seq_HELA_Human1.54773944
71CIITA_25753668_ChIP-Seq_RAJI_Human1.53945518
72LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.52488580
73MYB_26560356_Chip-Seq_TH1_Human1.51659275
74MAF_26560356_Chip-Seq_TH2_Human1.51599994
75MAF_26560356_Chip-Seq_TH1_Human1.50706577
76BCOR_27268052_Chip-Seq_Bcells_Human1.49548439
77MYC_22102868_ChIP-Seq_BL_Human1.49498597
78EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.48650176
79ELF1_20517297_ChIP-Seq_JURKAT_Human1.46856743
80PU.1_20513432_ChIP-Seq_Bcells_Mouse1.46063032
81STAT6_21828071_ChIP-Seq_BEAS2B_Human1.45843124
82GATA3_27048872_Chip-Seq_THYMUS_Human1.45560312
83* CTCF_26484167_Chip-Seq_Bcells_Mouse1.44815269
84DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.44306403
85SRF_21415370_ChIP-Seq_HL-1_Mouse1.43427115
86GABP_17652178_ChIP-ChIP_JURKAT_Human1.42809693
87VDR_23849224_ChIP-Seq_CD4+_Human1.41713344
88MYC_18358816_ChIP-ChIP_MESCs_Mouse1.40366078
89MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.39820375
90TET1_21451524_ChIP-Seq_MESCs_Mouse1.39693364
91* SPI1_20517297_ChIP-Seq_HL60_Human1.39333819
92RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.36126624
93DNAJC2_21179169_ChIP-ChIP_NT2_Human1.34551134
94CTCF_20526341_ChIP-Seq_ESCs_Human1.34371889
95NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.34247026
96YY1_22570637_ChIP-Seq_MALME-3M_Human1.34143573
97GBX2_23144817_ChIP-Seq_PC3_Human1.32268301
98ETS1_20019798_ChIP-Seq_JURKAT_Human1.32209147
99PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.32028471
100ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.31445024
101RING1B_27294783_Chip-Seq_ESCs_Mouse1.30562470
102* RUNX_20019798_ChIP-Seq_JUKART_Human1.28652704
103GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.27159322
104* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.27029913
105SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.26923598
106BMI1_23680149_ChIP-Seq_NPCS_Mouse1.26485332
107ESR1_21235772_ChIP-Seq_MCF-7_Human1.26439782
108FLI1_21867929_ChIP-Seq_CD8_Mouse1.25809429
109* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.25361748
110NR3C1_23031785_ChIP-Seq_PC12_Mouse1.24304160
111OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.22957404
112GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.22818332
113SMAD4_21799915_ChIP-Seq_A2780_Human1.21928413
114CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.21920327
115SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.21221751
116TRIM28_21343339_ChIP-Seq_HEK293_Human1.20868305
117RUNX1_22412390_ChIP-Seq_EML_Mouse1.20641104
118HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.19983207
119FOXP3_21729870_ChIP-Seq_TREG_Human1.19383161
120E2F1_20622854_ChIP-Seq_HELA_Human1.19036274
121* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19006104
122AR_25329375_ChIP-Seq_VCAP_Human1.15649717
123PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.15640882
124NANOG_20526341_ChIP-Seq_ESCs_Human1.14995906
125GATA3_26560356_Chip-Seq_TH2_Human1.13887380
126GATA2_22383799_ChIP-Seq_G1ME_Mouse1.13534503
127KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.13485529
128GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12838010
129SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.11288315
130* CTCF_21964334_ChIP-Seq_BJAB-B_Human1.10751060
131SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.10577166
132TAF15_26573619_Chip-Seq_HEK293_Human1.08925371
133E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.08904204
134WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.07646905
135LXR_22292898_ChIP-Seq_THP-1_Human1.07082551
136SMAD3_21741376_ChIP-Seq_EPCs_Human1.06077949
137MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.05527829
138TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.05339599
139PHF8_20622854_ChIP-Seq_HELA_Human1.04393950
140IRF8_27001747_Chip-Seq_BMDM_Mouse1.03980724
141SMAD4_21741376_ChIP-Seq_HESCs_Human1.03163914
142PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.03045327
143SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.02401103
144SA1_27219007_Chip-Seq_Bcells_Human1.02139098
145CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.01962671
146CDX2_19796622_ChIP-Seq_MESCs_Mouse1.00153066
147FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.98932788
148FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.98756064
149VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.98682481
150CTBP1_25329375_ChIP-Seq_LNCAP_Human0.98464787
151TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.98056441
152* CTCF_21964334_Chip-Seq_Bcells_Human0.97965365
153EST1_17652178_ChIP-ChIP_JURKAT_Human0.97873566
154SPI1_23127762_ChIP-Seq_K562_Human0.97859799
155CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.97840743
156TAF2_19829295_ChIP-Seq_ESCs_Human0.97808815
157JUN_21703547_ChIP-Seq_K562_Human0.97572376
158ARNT_22903824_ChIP-Seq_MCF-7_Human0.97293903
159MYC_18555785_ChIP-Seq_MESCs_Mouse0.96764938
160WDR5_24793694_ChIP-Seq_LNCAP_Human0.96498200
161TOP2B_26459242_ChIP-Seq_MCF-7_Human0.95873324
162RNF2_27304074_Chip-Seq_NSC_Mouse0.95719422
163SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.95695485
164PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.95465520
165SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.95383063
166IGF1R_20145208_ChIP-Seq_DFB_Human0.95310945
167ETS1_21867929_ChIP-Seq_TH2_Mouse0.94791173
168FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.94609715
169BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.93999819
170TET1_21490601_ChIP-Seq_MESCs_Mouse0.93627330
171BRD4_27068464_Chip-Seq_AML-cells_Mouse0.92846642
172TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.92401584
173PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.92324577
174ZNF263_19887448_ChIP-Seq_K562_Human0.92192833
175RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.90529302
176CTCF_27219007_Chip-Seq_Bcells_Human0.89225563
177BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.88903084
178PIAS1_25552417_ChIP-Seq_VCAP_Human0.88827433
179FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.88786369
180AHR_22903824_ChIP-Seq_MCF-7_Human0.87225613
181WT1_25993318_ChIP-Seq_PODOCYTE_Human0.86351116
182GATA1_19941826_ChIP-Seq_K562_Human0.85812119
183* SMAD3_21741376_ChIP-Seq_ESCs_Human0.84741332
184SOX2_21211035_ChIP-Seq_LN229_Gbm0.83991456
185* RING1B_27294783_Chip-Seq_NPCs_Mouse0.83658272
186CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.83500585
187SA1_27219007_Chip-Seq_ERYTHROID_Human0.82750047
188ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.82652115
189RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.82190683
190ER_23166858_ChIP-Seq_MCF-7_Human0.81160607
191ESR2_21235772_ChIP-Seq_MCF-7_Human0.80883783
192* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.80828370
193PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.80177026
194CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.78779002
195TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.78581216
196MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.77991954

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003122_maternal_imprinting8.14331872
2MP0003121_genomic_imprinting4.82871718
3MP0003123_paternal_imprinting4.72977069
4MP0005671_abnormal_response_to4.43897341
5MP0001835_abnormal_antigen_presentation4.34567997
6MP0004859_abnormal_synaptic_plasticity4.34557072
7MP0005645_abnormal_hypothalamus_physiol3.78525785
8MP0001800_abnormal_humoral_immune3.11950322
9MP0009379_abnormal_foot_pigmentation3.07566961
10MP0003880_abnormal_central_pattern2.93225591
11MP0003635_abnormal_synaptic_transmissio2.88068285
12MP0002102_abnormal_ear_morphology2.77813898
13MP0006276_abnormal_autonomic_nervous2.75628382
14MP0005000_abnormal_immune_tolerance2.75285048
15MP0005387_immune_system_phenotype2.67348722
16MP0001790_abnormal_immune_system2.67348722
17MP0003806_abnormal_nucleotide_metabolis2.60843166
18* MP0001968_abnormal_touch/_nociception2.60485311
19* MP0002723_abnormal_immune_serum2.50253214
20MP0002148_abnormal_hypersensitivity_rea2.49042795
21MP0008961_abnormal_basal_metabolism2.48339628
22MP0005464_abnormal_platelet_physiology2.46146142
23MP0000537_abnormal_urethra_morphology2.43967712
24MP0002452_abnormal_antigen_presenting2.41284079
25MP0005025_abnormal_response_to2.38190837
26MP0002420_abnormal_adaptive_immunity2.37155798
27MP0002064_seizures2.36178164
28MP0001819_abnormal_immune_cell2.34827402
29MP0002735_abnormal_chemical_nociception2.33803000
30MP0001984_abnormal_olfaction2.32502938
31* MP0009745_abnormal_behavioral_response2.32182218
32MP0000751_myopathy2.25924349
33MP0005646_abnormal_pituitary_gland2.25801992
34MP0002733_abnormal_thermal_nociception2.24065465
35MP0005423_abnormal_somatic_nervous2.23869206
36MP0009785_altered_susceptibility_to2.19534987
37MP0002396_abnormal_hematopoietic_system2.15769381
38MP0001501_abnormal_sleep_pattern2.12277210
39MP0003763_abnormal_thymus_physiology2.11424288
40MP0003436_decreased_susceptibility_to2.03702891
41MP0002398_abnormal_bone_marrow2.01196493
42* MP0002063_abnormal_learning/memory/cond1.99923777
43MP0002419_abnormal_innate_immunity1.99091931
44MP0000465_gastrointestinal_hemorrhage1.98750966
45MP0002822_catalepsy1.97313520
46MP0009046_muscle_twitch1.91743330
47MP0001188_hyperpigmentation1.91525953
48MP0000716_abnormal_immune_system1.89318103
49MP0000689_abnormal_spleen_morphology1.84606899
50MP0002736_abnormal_nociception_after1.83376234
51* MP0002572_abnormal_emotion/affect_behav1.81424555
52MP0002405_respiratory_system_inflammati1.80129790
53MP0000372_irregular_coat_pigmentation1.77137047
54* MP0002557_abnormal_social/conspecific_i1.74418772
55MP0002734_abnormal_mechanical_nocicepti1.73584967
56* MP0009333_abnormal_splenocyte_physiolog1.73013569
57MP0001440_abnormal_grooming_behavior1.69314066
58MP0001502_abnormal_circadian_rhythm1.69313821
59MP0000685_abnormal_immune_system1.67991403
60MP0006292_abnormal_olfactory_placode1.66295078
61MP0008004_abnormal_stomach_pH1.66152798
62MP0002272_abnormal_nervous_system1.65193046
63MP0004270_analgesia1.64225977
64MP0002722_abnormal_immune_system1.60890220
65MP0000343_altered_response_to1.58491251
66MP0002429_abnormal_blood_cell1.58205616
67MP0001845_abnormal_inflammatory_respons1.58111713
68MP0000462_abnormal_digestive_system1.56278603
69MP0001970_abnormal_pain_threshold1.55271506
70MP0009053_abnormal_anal_canal1.55119148
71MP0000013_abnormal_adipose_tissue1.54313833
72MP0009697_abnormal_copulation1.53446328
73MP0005075_abnormal_melanosome_morpholog1.46429647
74MP0009840_abnormal_foam_cell1.45576496
75MP0003787_abnormal_imprinting1.43661758
76MP0000678_abnormal_parathyroid_gland1.43120461
77MP0010155_abnormal_intestine_physiology1.40949585
78MP0005410_abnormal_fertilization1.39449451
79MP0004142_abnormal_muscle_tone1.39399504
80* MP0001905_abnormal_dopamine_level1.38412038
81MP0003724_increased_susceptibility_to1.34528900
82MP0002909_abnormal_adrenal_gland1.30750358
83MP0006036_abnormal_mitochondrial_physio1.28851158
84* MP0002067_abnormal_sensory_capabilities1.28445976
85MP0003866_abnormal_defecation1.28194643
86MP0004147_increased_porphyrin_level1.28061544
87* MP0008469_abnormal_protein_level1.27877231
88MP0001873_stomach_inflammation1.24966479
89MP0005397_hematopoietic_system_phenotyp1.24364373
90MP0001545_abnormal_hematopoietic_system1.24364373
91MP0009764_decreased_sensitivity_to1.23094305
92MP0002184_abnormal_innervation1.21992824
93MP0000703_abnormal_thymus_morphology1.20629930
94MP0003283_abnormal_digestive_organ1.17672283
95MP0000538_abnormal_urinary_bladder1.15141612
96MP0002163_abnormal_gland_morphology1.14256174
97MP0008995_early_reproductive_senescence1.10421383
98MP0001986_abnormal_taste_sensitivity1.09501877
99MP0000631_abnormal_neuroendocrine_gland1.08150047
100MP0002160_abnormal_reproductive_system1.08148757
101* MP0005448_abnormal_energy_balance1.07306791
102* MP0002069_abnormal_eating/drinking_beha1.06519960
103MP0010234_abnormal_vibrissa_follicle1.06420806
104MP0000747_muscle_weakness1.05459122
105MP0005058_abnormal_lysosome_morphology1.03679208
106MP0008877_abnormal_DNA_methylation1.02959972
107MP0003186_abnormal_redox_activity1.02487366
108MP0002751_abnormal_autonomic_nervous1.02440858
109* MP0004811_abnormal_neuron_physiology1.02367025
110MP0003191_abnormal_cellular_cholesterol1.01355823
111MP0004145_abnormal_muscle_electrophysio1.00361758
112MP0001765_abnormal_ion_homeostasis0.97652167
113MP0004130_abnormal_muscle_cell0.97515324
114MP0001486_abnormal_startle_reflex0.97182168
115MP0003959_abnormal_lean_body0.96006675
116MP0008875_abnormal_xenobiotic_pharmacok0.95329746
117MP0009278_abnormal_bone_marrow0.94764849
118MP0002837_dystrophic_cardiac_calcinosis0.93496633
119* MP0002078_abnormal_glucose_homeostasis0.92874073
120MP0001853_heart_inflammation0.92589497
121* MP0002066_abnormal_motor_capabilities/c0.92565110
122MP0003656_abnormal_erythrocyte_physiolo0.91521021
123MP0003690_abnormal_glial_cell0.91507142
124MP0002882_abnormal_neuron_morphology0.91391521
125MP0003633_abnormal_nervous_system0.91092265
126MP0000778_abnormal_nervous_system0.88997273
127MP0009672_abnormal_birth_weight0.88510240
128MP0003718_maternal_effect0.88068173
129MP0009765_abnormal_xenobiotic_induced0.86379236
130MP0006072_abnormal_retinal_apoptosis0.84790810
131MP0002132_abnormal_respiratory_system0.84057308
132MP0000920_abnormal_myelination0.83098019
133MP0002166_altered_tumor_susceptibility0.83069824
134* MP0002019_abnormal_tumor_incidence0.82930447
135MP0008569_lethality_at_weaning0.82773052
136MP0010386_abnormal_urinary_bladder0.82613013
137MP0003279_aneurysm0.82118895
138MP0005389_reproductive_system_phenotype0.82022604
139MP0005636_abnormal_mineral_homeostasis0.81407444
140MP0002095_abnormal_skin_pigmentation0.80187973
141MP0005379_endocrine/exocrine_gland_phen0.80132186
142MP0002138_abnormal_hepatobiliary_system0.79599907
143MP0002933_joint_inflammation0.79377112
144MP0000955_abnormal_spinal_cord0.79288711
145MP0003252_abnormal_bile_duct0.78384590
146MP0002693_abnormal_pancreas_physiology0.78299564
147* MP0005334_abnormal_fat_pad0.77224646
148MP0003329_amyloid_beta_deposits0.77077697
149* MP0005386_behavior/neurological_phenoty0.76873287
150* MP0004924_abnormal_behavior0.76873287
151MP0005595_abnormal_vascular_smooth0.75317311
152* MP0009643_abnormal_urine_homeostasis0.73308887
153MP0009763_increased_sensitivity_to0.73238080
154MP0008872_abnormal_physiological_respon0.72960404
155MP0001533_abnormal_skeleton_physiology0.72604477
156MP0006082_CNS_inflammation0.71178544
157MP0000003_abnormal_adipose_tissue0.70771972
158MP0003119_abnormal_digestive_system0.70395504
159MP0004885_abnormal_endolymph0.69795813
160MP0005083_abnormal_biliary_tract0.69283435
161MP0003075_altered_response_to0.67760670
162MP0001727_abnormal_embryo_implantation0.65957023
163MP0001663_abnormal_digestive_system0.65856126
164MP0000516_abnormal_urinary_system0.65250597
165MP0005367_renal/urinary_system_phenotyp0.65250597
166MP0001963_abnormal_hearing_physiology0.65035498
167MP0002653_abnormal_ependyma_morphology0.64571968
168MP0004381_abnormal_hair_follicle0.64173683
169MP0002229_neurodegeneration0.63805224
170MP0001764_abnormal_homeostasis0.63564523
171MP0001177_atelectasis0.63564343
172MP0002152_abnormal_brain_morphology0.63420601
173MP0008874_decreased_physiological_sensi0.63379525
174MP0009780_abnormal_chondrocyte_physiolo0.63044827
175MP0005623_abnormal_meninges_morphology0.61684496
176MP0004185_abnormal_adipocyte_glucose0.61069619
177MP0003631_nervous_system_phenotype0.60954546
178MP0004272_abnormal_basement_membrane0.59720790
179MP0005084_abnormal_gallbladder_morpholo0.58994164
180MP0004085_abnormal_heartbeat0.57877574
181MP0003137_abnormal_impulse_conducting0.57665683
182MP0002638_abnormal_pupillary_reflex0.57573972
183MP0003303_peritoneal_inflammation0.57105541
184* MP0003953_abnormal_hormone_level0.56813302
185* MP0005452_abnormal_adipose_tissue0.55930157
186MP0004133_heterotaxia0.55137554

Predicted human phenotypes

RankGene SetZ-score
1Type II lissencephaly (HP:0007260)8.14283108
2Retinal dysplasia (HP:0007973)7.66261822
3Failure to thrive in infancy (HP:0001531)6.80845434
4Polyphagia (HP:0002591)6.49333545
5Agammaglobulinemia (HP:0004432)5.55650280
6Myokymia (HP:0002411)5.43124214
7Abnormal hair whorl (HP:0010721)4.69987587
8Sleep apnea (HP:0010535)4.68276646
9Increased IgM level (HP:0003496)4.57250500
10Anterior segment dysgenesis (HP:0007700)4.56204127
11Abnormality of the labia minora (HP:0012880)4.50146370
12Oligomenorrhea (HP:0000876)4.49615311
13Abnormal eating behavior (HP:0100738)4.45249268
14Abnormality of aromatic amino acid family metabolism (HP:0004338)4.18158888
15Panhypogammaglobulinemia (HP:0003139)4.00980907
16Severe combined immunodeficiency (HP:0004430)3.83104313
17Abnormality of B cell number (HP:0010975)3.82503711
18Elevated erythrocyte sedimentation rate (HP:0003565)3.75553571
19Generalized aminoaciduria (HP:0002909)3.69383206
20Partial agenesis of the corpus callosum (HP:0001338)3.67491553
21B lymphocytopenia (HP:0010976)3.60915244
22Decreased activity of mitochondrial respiratory chain (HP:0008972)3.48739123
23Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.48739123
24Papilledema (HP:0001085)3.47995119
25Cerebral aneurysm (HP:0004944)3.47524051
26Focal motor seizures (HP:0011153)3.42338161
27Meningitis (HP:0001287)3.39039812
28Renal Fanconi syndrome (HP:0001994)3.36456305
29Poor suck (HP:0002033)3.29286246
30Absence seizures (HP:0002121)3.29243550
31Focal seizures (HP:0007359)3.14521750
32Epileptic encephalopathy (HP:0200134)3.12870102
33Hip dysplasia (HP:0001385)3.12081489
34Atonic seizures (HP:0010819)3.03037174
35Combined immunodeficiency (HP:0005387)3.01839572
36Recurrent fungal infections (HP:0002841)3.00421062
37Cerebellar dysplasia (HP:0007033)2.99704544
38Obstructive lung disease (HP:0006536)2.99145516
39Chronic obstructive pulmonary disease (HP:0006510)2.99145516
40Abnormality of the prostate (HP:0008775)2.98798162
41IgG deficiency (HP:0004315)2.98655245
42Broad distal phalanx of finger (HP:0009836)2.93852377
43Diaphragmatic weakness (HP:0009113)2.91625931
44Increased IgE level (HP:0003212)2.91190064
45Abnormality of cells of the erythroid lineage (HP:0012130)2.90217165
46Encephalitis (HP:0002383)2.86756020
47Psychosis (HP:0000709)2.85740539
48Abnormal number of erythroid precursors (HP:0012131)2.84901174
49Autoimmune thrombocytopenia (HP:0001973)2.82694052
50Esotropia (HP:0000565)2.80817758
51Hepatocellular necrosis (HP:0001404)2.80519231
52Progressive neurologic deterioration (HP:0002344)2.79210338
53Hypoventilation (HP:0002791)2.78223157
54Petechiae (HP:0000967)2.78203349
55Increased intramyocellular lipid droplets (HP:0012240)2.77079964
56Recurrent viral infections (HP:0004429)2.76461326
57Lissencephaly (HP:0001339)2.76325041
58Thyroiditis (HP:0100646)2.76092702
59Hypergammaglobulinemia (HP:0010702)2.75520741
60Dialeptic seizures (HP:0011146)2.75266752
61Muscle fiber splitting (HP:0003555)2.74716794
62Vasculitis (HP:0002633)2.73911099
63Abnormal delayed hypersensitivity skin test (HP:0002963)2.73577160
64Male infertility (HP:0003251)2.71812993
65Reduced antithrombin III activity (HP:0001976)2.65542539
66Shoulder girdle muscle weakness (HP:0003547)2.62973613
67Granulocytopenia (HP:0001913)2.62732073
68Generalized tonic-clonic seizures (HP:0002069)2.61897417
69Mitochondrial inheritance (HP:0001427)2.58677090
70Intention tremor (HP:0002080)2.57106376
71Abnormal drinking behavior (HP:0030082)2.56697164
72Polydipsia (HP:0001959)2.56697164
73Increased muscle lipid content (HP:0009058)2.56384535
74Eosinophilia (HP:0001880)2.55632205
75Impaired pain sensation (HP:0007328)2.55133966
76Abnormality of pain sensation (HP:0010832)2.55133966
77Abnormality of eosinophils (HP:0001879)2.54574192
78Narrow nasal bridge (HP:0000446)2.54103845
79Supranuclear gaze palsy (HP:0000605)2.53546987
80Autoimmune hemolytic anemia (HP:0001890)2.52552957
81Truncal ataxia (HP:0002078)2.52159363
82Agitation (HP:0000713)2.51243670
83Stomach cancer (HP:0012126)2.49337712
84Chronic otitis media (HP:0000389)2.49313860
85Abnormal protein glycosylation (HP:0012346)2.48993117
86Abnormal glycosylation (HP:0012345)2.48993117
87Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.48993117
88Abnormal protein N-linked glycosylation (HP:0012347)2.48993117
89Myotonia (HP:0002486)2.48406279
903-Methylglutaconic aciduria (HP:0003535)2.47695429
91Pheochromocytoma (HP:0002666)2.47695414
92Action tremor (HP:0002345)2.47037862
93Dysmetria (HP:0001310)2.46478375
94Pallor (HP:0000980)2.45845169
95Open mouth (HP:0000194)2.44424493
96Cellulitis (HP:0100658)2.43678168
97Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.42299889
98Pelvic girdle muscle weakness (HP:0003749)2.41758499
99Progressive cerebellar ataxia (HP:0002073)2.39804823
100Abnormal EKG (HP:0003115)2.39129674
101Difficulty climbing stairs (HP:0003551)2.38369002
102Hepatic necrosis (HP:0002605)2.35672204
103Generalized hypotonia (HP:0001290)2.34993897
104Mediastinal lymphadenopathy (HP:0100721)2.33981739
105Leukocytosis (HP:0001974)2.33704555
106Prolonged QT interval (HP:0001657)2.32625196
107Febrile seizures (HP:0002373)2.31052901
108Gastrointestinal stroma tumor (HP:0100723)2.30549127
109Lymphopenia (HP:0001888)2.29387037
110Abnormality of the vitreous humor (HP:0004327)2.29137345
111Rimmed vacuoles (HP:0003805)2.28738949
112Intellectual disability, profound (HP:0002187)2.28183998
113Abnormality of the hip-girdle musculature (HP:0001445)2.25121401
114Abnormality of the musculature of the pelvis (HP:0001469)2.25121401
115Abnormality of macrophages (HP:0004311)2.24656444
116Mesangial abnormality (HP:0001966)2.24492662
117Abnormal mitochondria in muscle tissue (HP:0008316)2.22775233
118Abnormality of the costochondral junction (HP:0000919)2.22618855
119Chronic sinusitis (HP:0011109)2.22423942
120Dysostosis multiplex (HP:0000943)2.22370948
121Anosmia (HP:0000458)2.22301972
122Scanning speech (HP:0002168)2.21326596
123Stomatitis (HP:0010280)2.19908180
124Purpura (HP:0000979)2.19681210
125Muscular dystrophy (HP:0003560)2.18886205
126Abnormality of the heme biosynthetic pathway (HP:0010472)2.18172336
127Pulmonary infiltrates (HP:0002113)2.17152066
128Myositis (HP:0100614)2.16909479
129Optic nerve hypoplasia (HP:0000609)2.16815205
130Visual hallucinations (HP:0002367)2.16662175
131Sepsis (HP:0100806)2.16462572
132Abnormality of T cells (HP:0002843)2.15828218
133Recurrent skin infections (HP:0001581)2.15511936
134Abnormal pupillary function (HP:0007686)2.15507649
135Hypercortisolism (HP:0001578)2.14957979
136Increased CSF lactate (HP:0002490)2.13844339
137Epistaxis (HP:0000421)2.13752125
138Skin rash (HP:0000988)2.13700713
139Palpitations (HP:0001962)2.13587790
140Type I transferrin isoform profile (HP:0003642)2.12624157
141Acute necrotizing encephalopathy (HP:0006965)2.11031233
142Hypoplasia of the brainstem (HP:0002365)2.10671797
143Aplasia/Hypoplasia of the brainstem (HP:0007362)2.10671797
144Prolonged neonatal jaundice (HP:0006579)2.10156896
145Poikiloderma (HP:0001029)2.10107817
146Abnormality of male internal genitalia (HP:0000022)2.09887746
147Urticaria (HP:0001025)2.08763644
148Abnormality of cells of the lymphoid lineage (HP:0012140)2.06196099
149Recurrent lower respiratory tract infections (HP:0002783)2.06191044
150Poor eye contact (HP:0000817)2.03553182
151Abnormality of renal resorption (HP:0011038)2.02900504
152Recurrent cutaneous fungal infections (HP:0011370)2.02799378
153Chronic mucocutaneous candidiasis (HP:0002728)2.02799378
154Tetany (HP:0001281)2.02507864
155Hypertensive crisis (HP:0100735)2.01684323
156Prolonged bleeding time (HP:0003010)2.01332023
157Postural instability (HP:0002172)2.01216527
158Hyperlipoproteinemia (HP:0010980)2.00184799
159Chest pain (HP:0100749)1.98359850
160Abnormality of fatty-acid metabolism (HP:0004359)1.97727414
161Abnormal rod and cone electroretinograms (HP:0008323)1.97252953
162Villous atrophy (HP:0011473)1.97139126
163Abnormality of small intestinal villus morphology (HP:0011472)1.97139126
164Severe muscular hypotonia (HP:0006829)1.96837968
165Genetic anticipation (HP:0003743)1.96811461
166Abnormality of DNA repair (HP:0003254)1.96724632
167Specific learning disability (HP:0001328)1.96611889
168Growth hormone deficiency (HP:0000824)1.96451093
169Abnormality of T cell physiology (HP:0011840)1.96204849
170Neuroendocrine neoplasm (HP:0100634)1.95762773
171Generalized hypopigmentation (HP:0007513)1.95020508
172Labial hypoplasia (HP:0000066)1.93945982
173Abnormality of the pleura (HP:0002103)1.92465679
174Reticulocytopenia (HP:0001896)1.92391655
175Abnormality of the corticospinal tract (HP:0002492)1.91703633
176Gingival bleeding (HP:0000225)1.89105410
177Hepatosplenomegaly (HP:0001433)1.89088748
178Gastrointestinal inflammation (HP:0004386)1.88278254
179Eczematoid dermatitis (HP:0000976)1.88149112
180Recurrent sinusitis (HP:0011108)1.87855558
181Congenital malformation of the right heart (HP:0011723)1.87848247
182Double outlet right ventricle (HP:0001719)1.87848247
183IgM deficiency (HP:0002850)1.87148426
184Anxiety (HP:0000739)1.85099485
185Colitis (HP:0002583)1.84862313
186Macroorchidism (HP:0000053)1.83897125
187Dysdiadochokinesis (HP:0002075)1.83795119
188Retinal atrophy (HP:0001105)1.82016039
189Adducted thumb (HP:0001181)1.81334395
190Rigidity (HP:0002063)1.78620939
191Depression (HP:0000716)1.77817213
192Impaired social interactions (HP:0000735)1.77283810
193Abnormal social behavior (HP:0012433)1.77283810
194Progressive inability to walk (HP:0002505)1.74606186
195Non-midline cleft lip (HP:0100335)1.73776130
196Turricephaly (HP:0000262)1.71079522

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K94.83948518
2AKT34.59096168
3NTRK34.45958468
4TESK23.68069761
5KDR3.57553956
6ZAP703.48487765
7LMTK23.41052120
8KIT2.87021589
9ERN12.74996595
10IKBKE2.74556973
11VRK22.60793908
12NTRK22.52877336
13BUB12.36623358
14PHKG22.35927467
15PHKG12.35927467
16ARAF2.33123050
17TYRO32.32379605
18MAP4K12.31557492
19MAP4K22.26640074
20MAP3K122.25841066
21BLK2.17877027
22CSF1R2.13827495
23FLT32.07413773
24MAP3K42.06542861
25TXK2.03955928
26PIM22.03021283
27KSR21.93700737
28TRIB31.93085483
29TESK11.87056086
30TBK11.87052290
31MAP3K131.84554395
32WNK31.80669477
33TAOK31.76483674
34MINK11.74496802
35IRAK21.73394035
36MAP3K21.68728099
37CDK191.64711665
38PAK61.63093926
39TEC1.62851882
40STK391.62825833
41CAMKK21.55297168
42MAP2K41.53781222
43LYN1.53421018
44ABL21.53222111
45UHMK11.48006868
46PRKD21.47584084
47BTK1.46491939
48BCKDK1.45097372
49PAK31.37683952
50CAMK1G1.31125868
51MARK11.28490959
52CCNB11.27024424
53LCK1.26420780
54DMPK1.21860672
55WNK41.20075932
56RIPK41.18888327
57LATS21.18633655
58IKBKB1.17651135
59CAMK1D1.16742538
60FES1.14125110
61MATK1.12577380
62GRK61.10265649
63CDK51.09815236
64TNIK1.08785597
65ITK1.05144336
66PIK3CG1.02425456
67KSR11.01943129
68TNK20.99568722
69PAK20.99180294
70RPS6KA50.98768687
71LIMK10.97998737
72VRK10.95535106
73FER0.94188388
74PIM10.94124105
75NTRK10.91887852
76GRK10.91867164
77GRK70.91205537
78MAP2K70.88413215
79OBSCN0.88261420
80STK160.87485611
81PRKCQ0.87027806
82PLK20.84019559
83PRKCG0.83682131
84SYK0.81028702
85HCK0.80189231
86MAP2K60.79432308
87DAPK30.76851090
88PASK0.76656784
89JAK30.75494506
90CAMKK10.74215755
91CAMK2A0.72861563
92ZAK0.72840470
93CDK140.72766926
94MAPK130.72331441
95CSK0.69440646
96CASK0.68920595
97MAP3K10.67842742
98CLK10.67325576
99TAOK20.66784446
100PRKCH0.66604842
101FGR0.63663616
102RAF10.62844850
103CAMK2G0.62690119
104BRSK20.62097841
105BRSK10.60358919
106ALK0.59933226
107FYN0.59516859
108SCYL20.58568703
109CAMK10.57266925
110NME20.56502044
111RPS6KB20.56225046
112BRAF0.56120836
113BMX0.56090334
114OXSR10.55916319
115SRPK10.55196910
116MOS0.53958964
117EPHA40.53706888
118TYK20.52744478
119CDK180.52567645
120NUAK10.52554984
121ADRBK20.52353375
122LRRK20.52167011
123RPS6KA60.52062575
124PDPK10.51410665
125CDK150.50842142
126PRKD10.50596325
127AURKA0.50330283
128GRK50.50014646
129INSRR0.49914411
130MAPKAPK50.49801538
131PTK60.49569819
132PNCK0.47370640
133ERBB20.46431008
134RPS6KL10.45729524
135RPS6KC10.45729524
136ADRBK10.45461938
137CSNK1G20.44733864
138MAP3K140.44316250
139FRK0.43372031
140SGK2230.43144507
141SGK4940.43144507
142PDK10.43084279
143PKN10.42112673
144ERBB40.42107276
145CDK11A0.41524838
146MAP2K20.40774949
147CDC42BPA0.39686290
148PRKCD0.39381066
149PAK10.39359695
150SIK30.36588291
151MAPKAPK30.35477350
152BCR0.35090830
153AURKB0.34601215
154TAOK10.33788982
155CSNK2A10.32579373
156CAMK40.32044599
157CAMK2B0.31686545
158CSNK2A20.30842673
159PRKACA0.30734937
160PTK20.30634180
161MAP3K50.29247460
162TLK10.29035069
163RET0.28948709
164DYRK1B0.28757783
165ABL10.28092632
166MYLK0.27520126
167DAPK10.27485524
168DYRK1A0.27003627
169PRKG20.26770298
170MAPK120.26654585
171MAP3K110.26520218
172CSNK1G30.26517279
173STK110.26428505
174JAK10.26364024
175RPS6KA30.26073595
176TGFBR10.25610579
177RPS6KA20.25344673
178JAK20.24347918
179CSNK1G10.24300225
180MARK30.24143278

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053404.31485172
2Nicotine addiction_Homo sapiens_hsa050334.05324222
3Asthma_Homo sapiens_hsa053103.76170108
4Ribosome_Homo sapiens_hsa030103.72619576
5Synaptic vesicle cycle_Homo sapiens_hsa047213.67642734
6Allograft rejection_Homo sapiens_hsa053303.65851486
7Autoimmune thyroid disease_Homo sapiens_hsa053203.54915408
8Graft-versus-host disease_Homo sapiens_hsa053323.45415523
9Taurine and hypotaurine metabolism_Homo sapiens_hsa004303.43927445
10GABAergic synapse_Homo sapiens_hsa047273.21927692
11Intestinal immune network for IgA production_Homo sapiens_hsa046723.18936081
12Collecting duct acid secretion_Homo sapiens_hsa049662.98245889
13Cyanoamino acid metabolism_Homo sapiens_hsa004602.71045113
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.51381800
15Vasopressin-regulated water reabsorption_Homo sapiens_hsa049622.47611122
16Antigen processing and presentation_Homo sapiens_hsa046122.40230955
17Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.24631052
18Sulfur relay system_Homo sapiens_hsa041222.22444115
19alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.22377312
20Vibrio cholerae infection_Homo sapiens_hsa051102.21757867
21Morphine addiction_Homo sapiens_hsa050322.21387339
22Cocaine addiction_Homo sapiens_hsa050302.20408031
23Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.07585393
24DNA replication_Homo sapiens_hsa030301.99708395
25Viral myocarditis_Homo sapiens_hsa054161.91952162
26Hematopoietic cell lineage_Homo sapiens_hsa046401.88876865
27Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.87753839
28Staphylococcus aureus infection_Homo sapiens_hsa051501.86447045
29Linoleic acid metabolism_Homo sapiens_hsa005911.85968639
30Leishmaniasis_Homo sapiens_hsa051401.84175836
31Amphetamine addiction_Homo sapiens_hsa050311.82448821
32Circadian entrainment_Homo sapiens_hsa047131.80250296
33Glutamatergic synapse_Homo sapiens_hsa047241.77244760
34Base excision repair_Homo sapiens_hsa034101.68681239
35Insulin secretion_Homo sapiens_hsa049111.66352931
36Proteasome_Homo sapiens_hsa030501.66173271
37Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.65809694
38Dopaminergic synapse_Homo sapiens_hsa047281.64351536
39Systemic lupus erythematosus_Homo sapiens_hsa053221.63964752
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.60050633
41Olfactory transduction_Homo sapiens_hsa047401.58934311
42Folate biosynthesis_Homo sapiens_hsa007901.50283365
43Long-term potentiation_Homo sapiens_hsa047201.48941434
44Type I diabetes mellitus_Homo sapiens_hsa049401.45684511
45Cholinergic synapse_Homo sapiens_hsa047251.40775553
46RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.40379040
47Homologous recombination_Homo sapiens_hsa034401.40359370
48Mismatch repair_Homo sapiens_hsa034301.34457596
49NF-kappa B signaling pathway_Homo sapiens_hsa040641.34007018
50Prion diseases_Homo sapiens_hsa050201.32381951
51Butanoate metabolism_Homo sapiens_hsa006501.30382900
52Type II diabetes mellitus_Homo sapiens_hsa049301.29165875
53Serotonergic synapse_Homo sapiens_hsa047261.25815558
54Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.21093272
55Oxidative phosphorylation_Homo sapiens_hsa001901.20972668
56Salivary secretion_Homo sapiens_hsa049701.20657096
57Herpes simplex infection_Homo sapiens_hsa051681.19926422
58Cardiac muscle contraction_Homo sapiens_hsa042601.17080442
59Long-term depression_Homo sapiens_hsa047301.16944543
60Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.14550230
61Galactose metabolism_Homo sapiens_hsa000521.14205551
62Gastric acid secretion_Homo sapiens_hsa049711.12099475
63Arachidonic acid metabolism_Homo sapiens_hsa005901.10866150
64Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.09048126
65Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.05444771
66Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.04958041
67Aldosterone synthesis and secretion_Homo sapiens_hsa049251.04640209
68Estrogen signaling pathway_Homo sapiens_hsa049151.03868591
69Tuberculosis_Homo sapiens_hsa051521.01286123
70Regulation of autophagy_Homo sapiens_hsa041401.00200086
71Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.99791228
72Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.98510678
73Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.97802400
74Ether lipid metabolism_Homo sapiens_hsa005650.97466498
75Fat digestion and absorption_Homo sapiens_hsa049750.95790059
76Renin secretion_Homo sapiens_hsa049240.95526353
77GnRH signaling pathway_Homo sapiens_hsa049120.95431887
78Nucleotide excision repair_Homo sapiens_hsa034200.95427288
79Toll-like receptor signaling pathway_Homo sapiens_hsa046200.94293097
80Taste transduction_Homo sapiens_hsa047420.92879649
81Gap junction_Homo sapiens_hsa045400.92847790
82Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.91593253
83Axon guidance_Homo sapiens_hsa043600.90425838
84MAPK signaling pathway_Homo sapiens_hsa040100.87092409
85Starch and sucrose metabolism_Homo sapiens_hsa005000.85558507
86Oxytocin signaling pathway_Homo sapiens_hsa049210.85330769
87Glucagon signaling pathway_Homo sapiens_hsa049220.83307551
88Parkinsons disease_Homo sapiens_hsa050120.81724097
89Influenza A_Homo sapiens_hsa051640.80159667
90Pyrimidine metabolism_Homo sapiens_hsa002400.79875118
91Dorso-ventral axis formation_Homo sapiens_hsa043200.78495350
92RNA polymerase_Homo sapiens_hsa030200.78014289
93Pertussis_Homo sapiens_hsa051330.75197640
94Platelet activation_Homo sapiens_hsa046110.74544409
95Measles_Homo sapiens_hsa051620.73226584
96Phototransduction_Homo sapiens_hsa047440.73094310
97Bile secretion_Homo sapiens_hsa049760.72395433
98Malaria_Homo sapiens_hsa051440.71612727
99Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.70934712
100Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.69613915
101Calcium signaling pathway_Homo sapiens_hsa040200.68627959
102Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.68597844
103Nitrogen metabolism_Homo sapiens_hsa009100.68363555
104B cell receptor signaling pathway_Homo sapiens_hsa046620.68063400
105cAMP signaling pathway_Homo sapiens_hsa040240.67983597
106Thyroid cancer_Homo sapiens_hsa052160.67812074
107SNARE interactions in vesicular transport_Homo sapiens_hsa041300.67275245
108Glycerophospholipid metabolism_Homo sapiens_hsa005640.66617212
109beta-Alanine metabolism_Homo sapiens_hsa004100.66453335
110Lysosome_Homo sapiens_hsa041420.65633006
111Rheumatoid arthritis_Homo sapiens_hsa053230.65481578
112Dilated cardiomyopathy_Homo sapiens_hsa054140.65285958
113Peroxisome_Homo sapiens_hsa041460.64934185
114* Adipocytokine signaling pathway_Homo sapiens_hsa049200.64868571
115Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.64637312
116Toxoplasmosis_Homo sapiens_hsa051450.63756577
117Maturity onset diabetes of the young_Homo sapiens_hsa049500.62589331
118Thyroid hormone synthesis_Homo sapiens_hsa049180.61122444
119Insulin signaling pathway_Homo sapiens_hsa049100.60620445
120Osteoclast differentiation_Homo sapiens_hsa043800.57531785
121Epstein-Barr virus infection_Homo sapiens_hsa051690.57038153
122Purine metabolism_Homo sapiens_hsa002300.55851711
123* Melanogenesis_Homo sapiens_hsa049160.55499353
124Fanconi anemia pathway_Homo sapiens_hsa034600.55454520
125Glutathione metabolism_Homo sapiens_hsa004800.55283884
126Glycosaminoglycan degradation_Homo sapiens_hsa005310.54956746
127Arginine biosynthesis_Homo sapiens_hsa002200.53350791
128ErbB signaling pathway_Homo sapiens_hsa040120.52445581
129T cell receptor signaling pathway_Homo sapiens_hsa046600.51768670
130Alzheimers disease_Homo sapiens_hsa050100.51605514
131Neurotrophin signaling pathway_Homo sapiens_hsa047220.50464570
132N-Glycan biosynthesis_Homo sapiens_hsa005100.49114378
133Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.47375826
134Drug metabolism - other enzymes_Homo sapiens_hsa009830.46947618
135Primary bile acid biosynthesis_Homo sapiens_hsa001200.46792292
136Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.44959635
137Spliceosome_Homo sapiens_hsa030400.44350215
138Ras signaling pathway_Homo sapiens_hsa040140.44245243
139Alcoholism_Homo sapiens_hsa050340.43363533
140Salmonella infection_Homo sapiens_hsa051320.43266944
141Shigellosis_Homo sapiens_hsa051310.42639745
142cGMP-PKG signaling pathway_Homo sapiens_hsa040220.41097276
143Carbohydrate digestion and absorption_Homo sapiens_hsa049730.39437524
144African trypanosomiasis_Homo sapiens_hsa051430.39351932
145Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.38837912
146Transcriptional misregulation in cancer_Homo sapiens_hsa052020.38686699
147Glioma_Homo sapiens_hsa052140.37157268
148Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.36950994
149Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.36728464
150Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.36492112
151Non-homologous end-joining_Homo sapiens_hsa034500.36408724
152Huntingtons disease_Homo sapiens_hsa050160.36379550
153Phagosome_Homo sapiens_hsa041450.36157918
154Vascular smooth muscle contraction_Homo sapiens_hsa042700.34279499
155Oocyte meiosis_Homo sapiens_hsa041140.34181378
156Legionellosis_Homo sapiens_hsa051340.34122076
157Insulin resistance_Homo sapiens_hsa049310.33963166
158Phospholipase D signaling pathway_Homo sapiens_hsa040720.33021770
159Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.31347987
160NOD-like receptor signaling pathway_Homo sapiens_hsa046210.31310466
161Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.30688517
162Prolactin signaling pathway_Homo sapiens_hsa049170.30208266
163Apoptosis_Homo sapiens_hsa042100.29193028
164Choline metabolism in cancer_Homo sapiens_hsa052310.28916765
165Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.28076803
166Steroid hormone biosynthesis_Homo sapiens_hsa001400.28067623
167Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.27833681
168Chemical carcinogenesis_Homo sapiens_hsa052040.26676515
169Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.25498749
170Pyruvate metabolism_Homo sapiens_hsa006200.25005031
171Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.24422487
172Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.24012507
173Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.23436731
174Metabolic pathways_Homo sapiens_hsa011000.23084273
175Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.22086114
176Phosphatidylinositol signaling system_Homo sapiens_hsa040700.21603359
177Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.20901056
178Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.19821954
179HTLV-I infection_Homo sapiens_hsa051660.18438680
180Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.16701965
181Selenocompound metabolism_Homo sapiens_hsa004500.15591144
182Tyrosine metabolism_Homo sapiens_hsa003500.13254976

Most similar genes based on co-expression Upload to Enrichr

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