UCN

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the sauvagine/corticotropin-releasing factor/urotensin I family. The encoded preproprotein is proteolytically processed to generate the mature peptide, an endogenous ligand for both corticotropin-releasing factor receptor 1 and corticotropin-releasing factor receptor 2. In the brain this peptide may be responsible for the effects of stress on appetite. This peptide may also play a role in mood disorders, neurodegeneration, and skeletal system disorders. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin-2. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of potassium ion transmembrane transporter activity (GO:1901018)9.33623507
2negative regulation of phosphoprotein phosphatase activity (GO:0032515)8.93511158
3mannose metabolic process (GO:0006013)8.88018326
4grooming behavior (GO:0007625)7.93044593
5regulation of female receptivity (GO:0045924)7.72813577
6aggressive behavior (GO:0002118)7.48337125
7positive regulation of amino acid transport (GO:0051957)7.39304654
8female mating behavior (GO:0060180)6.80423254
9regulation of transmission of nerve impulse (GO:0051969)6.63737014
10hyperosmotic salinity response (GO:0042538)6.28846754
11positive regulation of potassium ion transmembrane transport (GO:1901381)6.13676659
12chemosensory behavior (GO:0007635)6.09447693
13regulation of glucocorticoid metabolic process (GO:0031943)6.00608843
14cellular response to ATP (GO:0071318)5.99309234
15metallo-sulfur cluster assembly (GO:0031163)5.85311019
16iron-sulfur cluster assembly (GO:0016226)5.85311019
17regulation of glucocorticoid secretion (GO:2000849)5.66204237
18hormone catabolic process (GO:0042447)5.54933470
19positive regulation of hair cycle (GO:0042635)5.27418525
20positive regulation of hair follicle development (GO:0051798)5.27418525
21snRNA transcription (GO:0009301)5.26779050
22protein kinase C signaling (GO:0070528)5.23589949
23positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)5.18846514
24peristalsis (GO:0030432)5.13709694
25positive regulation of cation channel activity (GO:2001259)5.07252867
26regulation of cell maturation (GO:1903429)5.07133829
27positive regulation of fatty acid biosynthetic process (GO:0045723)5.02917981
28regulation of corticosteroid hormone secretion (GO:2000846)5.02712839
29positive regulation of steroid hormone secretion (GO:2000833)5.02576660
30sarcoplasmic reticulum calcium ion transport (GO:0070296)4.99053369
31N-glycan processing (GO:0006491)4.91007307
32maternal behavior (GO:0042711)4.85749794
33urinary tract smooth muscle contraction (GO:0014848)4.78294594
34regulation of glutamate secretion (GO:0014048)4.76114135
35positive regulation of actin filament depolymerization (GO:0030836)4.72186337
36glutamine family amino acid biosynthetic process (GO:0009084)4.69837829
37establishment of mitochondrion localization (GO:0051654)4.65368616
38plasma membrane repair (GO:0001778)4.60163568
39positive regulation of systemic arterial blood pressure (GO:0003084)4.50845104
40GMP metabolic process (GO:0046037)4.49567354
41trivalent inorganic anion homeostasis (GO:0072506)4.41852567
42phosphate ion homeostasis (GO:0055062)4.41852567
43positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.35472044
44aldehyde catabolic process (GO:0046185)4.33431367
45NIK/NF-kappaB signaling (GO:0038061)4.33279065
46autophagic vacuole fusion (GO:0000046)4.27758961
47parental behavior (GO:0060746)4.27682561
48regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.27079382
49positive regulation of potassium ion transport (GO:0043268)4.13909870
50regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)4.10930539
51cellular anion homeostasis (GO:0030002)4.07505095
52negative regulation of release of cytochrome c from mitochondria (GO:0090201)4.07299739
53mitochondrion transport along microtubule (GO:0047497)4.07003101
54establishment of mitochondrion localization, microtubule-mediated (GO:0034643)4.07003101
55peptide catabolic process (GO:0043171)4.06494574
56purine deoxyribonucleotide catabolic process (GO:0009155)4.06441022
57auditory behavior (GO:0031223)4.02606222
58regulation of potassium ion transmembrane transporter activity (GO:1901016)3.97066864
59determination of adult lifespan (GO:0008340)3.93663055
60mitochondrial calcium ion transport (GO:0006851)3.88648112
61sodium-independent organic anion transport (GO:0043252)3.88106051
62dendritic spine morphogenesis (GO:0060997)3.87796285
63regulation of hair follicle development (GO:0051797)3.87682201
64cAMP-mediated signaling (GO:0019933)3.76937435
65positive regulation of protein deacetylation (GO:0090312)3.73053542
66muscle filament sliding (GO:0030049)3.72615171
67actin-myosin filament sliding (GO:0033275)3.72615171
68neuronal action potential propagation (GO:0019227)3.68830354
69sarcomere organization (GO:0045214)3.67178516
70beta-amyloid metabolic process (GO:0050435)3.66728596
71positive regulation of amine transport (GO:0051954)3.66352111
72I-kappaB phosphorylation (GO:0007252)3.66340985
73carnitine transmembrane transport (GO:1902603)3.64919635
74vocalization behavior (GO:0071625)3.64088577
75peptidyl-histidine modification (GO:0018202)3.60623318
76positive regulation of organic acid transport (GO:0032892)3.59436299
77negative regulation of protein localization to cell surface (GO:2000009)3.57841077
78viral mRNA export from host cell nucleus (GO:0046784)3.57085443
79regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.55574071
80regulation of short-term neuronal synaptic plasticity (GO:0048172)3.53895205
81positive regulation of megakaryocyte differentiation (GO:0045654)3.53756666
82phosphatidylglycerol biosynthetic process (GO:0006655)3.50402010
83glutamine metabolic process (GO:0006541)3.50088908
84negative regulation of neurological system process (GO:0031645)3.45866166
85respiratory system process (GO:0003016)3.44399956
86positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.43705659
87regulation of cell communication by electrical coupling (GO:0010649)3.43229286
88cellular response to exogenous dsRNA (GO:0071360)3.42650893
89neuromuscular synaptic transmission (GO:0007274)3.42082171
90lung-associated mesenchyme development (GO:0060484)3.39379536
91regulation of potassium ion transmembrane transport (GO:1901379)3.38119950
92positive regulation of ion transmembrane transporter activity (GO:0032414)3.34659923
93ncRNA 3-end processing (GO:0043628)3.34213692
94cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.32641797
95skeletal muscle contraction (GO:0003009)3.31592322
96positive regulation of mitochondrial fission (GO:0090141)3.31102451
97response to testosterone (GO:0033574)3.29640276
98detection of light stimulus involved in visual perception (GO:0050908)3.28612143
99detection of light stimulus involved in sensory perception (GO:0050962)3.28612143
100carnitine transport (GO:0015879)3.27648006
101amino-acid betaine transport (GO:0015838)3.27648006
102cell communication by electrical coupling (GO:0010644)3.26872458
103righting reflex (GO:0060013)3.25743527
104response to ATP (GO:0033198)3.24760363
105cofactor catabolic process (GO:0051187)3.24665920
106negative regulation of microtubule polymerization (GO:0031115)3.20711028
107regulation of steroid hormone secretion (GO:2000831)3.20153908
108deoxyribonucleotide catabolic process (GO:0009264)3.19265176
109response to misfolded protein (GO:0051788)3.19143421
110establishment of protein localization to mitochondrial membrane (GO:0090151)3.18942232
111regulation of cation channel activity (GO:2001257)3.18907537
112regulation of amino acid transport (GO:0051955)3.17456550
113response to auditory stimulus (GO:0010996)3.16855554
114negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.14492586
115regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.12911010
116xenobiotic catabolic process (GO:0042178)3.11095038
117definitive hemopoiesis (GO:0060216)3.10172006
118protein localization to cell surface (GO:0034394)3.04136695
119cerebellum development (GO:0021549)3.01638542
120cyclic-nucleotide-mediated signaling (GO:0019935)3.01116786
121pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.00532567
122regulation of penile erection (GO:0060405)3.00371917
123phasic smooth muscle contraction (GO:0014821)2.99605647
124mitochondrial respiratory chain complex I assembly (GO:0032981)2.99422832
125NADH dehydrogenase complex assembly (GO:0010257)2.99422832
126mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.99422832
127regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.99315002
128spermatid nucleus differentiation (GO:0007289)2.99124909
129hyperosmotic response (GO:0006972)2.97894325
130negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.97849003
131negative regulation of receptor activity (GO:2000272)2.96706625
132positive regulation of transporter activity (GO:0032411)2.96377574
133negative regulation of cation channel activity (GO:2001258)2.93969000
134positive regulation of hematopoietic progenitor cell differentiation (GO:1901534)2.93068515
135base-excision repair, AP site formation (GO:0006285)2.92905210
136synaptic vesicle maturation (GO:0016188)2.92884569
137regulation of calcium ion transmembrane transporter activity (GO:1901019)2.92801586
138regulation of calcium ion transmembrane transport (GO:1903169)2.92801586
139cell communication involved in cardiac conduction (GO:0086065)2.92194058
140regulation of skeletal muscle contraction (GO:0014819)2.91423346
141negative regulation of dendrite morphogenesis (GO:0050774)2.91364457
142long term synaptic depression (GO:0060292)2.91259996
143regulation of phosphoprotein phosphatase activity (GO:0043666)2.89994239
144specification of organ identity (GO:0010092)2.89274480
145regulation of synapse structural plasticity (GO:0051823)2.88900836
146organelle membrane fusion (GO:0090174)2.87988877
147detection of temperature stimulus involved in sensory perception of pain (GO:0050965)2.87310873
148detection of temperature stimulus involved in sensory perception (GO:0050961)2.87310873
149response to peptidoglycan (GO:0032494)2.84182167
150protein localization to synapse (GO:0035418)2.82822024
151substrate-independent telencephalic tangential interneuron migration (GO:0021843)2.82094547
152substrate-independent telencephalic tangential migration (GO:0021826)2.82094547
153lymphoid progenitor cell differentiation (GO:0002320)2.81921766
154deoxyribose phosphate catabolic process (GO:0046386)2.80770284
155positive regulation of protein oligomerization (GO:0032461)2.80423583
156actin-mediated cell contraction (GO:0070252)2.78865010
157mitochondrial calcium ion homeostasis (GO:0051560)2.78814380
158response to insecticide (GO:0017085)2.77291443
159membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.76261231
160striated muscle contraction (GO:0006941)2.75962127
161negative regulation of calcium ion transmembrane transport (GO:1903170)2.75388740
162negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.75388740
163regulation of sulfur metabolic process (GO:0042762)2.75111171
164positive regulation of protein depolymerization (GO:1901881)2.75026615
165positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO2.74124628
166regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)2.74124628
167creatine metabolic process (GO:0006600)2.71948567
168layer formation in cerebral cortex (GO:0021819)2.70707324
169regulation of actin filament-based movement (GO:1903115)2.70667229
170regulation of protein export from nucleus (GO:0046825)2.69118652
171cardiac muscle contraction (GO:0060048)2.68807830
172regulation of synaptic vesicle exocytosis (GO:2000300)2.68698501
173deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.68303326
174neuronal action potential (GO:0019228)2.67076273
175negative regulation of potassium ion transmembrane transport (GO:1901380)2.66210054
176regulation of type B pancreatic cell apoptotic process (GO:2000674)2.65323786
177regulation of respiratory gaseous exchange (GO:0043576)2.64178982
178positive regulation of triglyceride biosynthetic process (GO:0010867)2.63789389
179ventricular cardiac muscle cell action potential (GO:0086005)2.63406885
180carnitine shuttle (GO:0006853)2.61068490
181negative regulation of type 2 immune response (GO:0002829)2.60984733
182purine deoxyribonucleotide metabolic process (GO:0009151)2.60716338
183regulation of relaxation of muscle (GO:1901077)2.58432452
184neuron cell-cell adhesion (GO:0007158)2.57735832
185mechanosensory behavior (GO:0007638)2.54417531
186regulation of catecholamine metabolic process (GO:0042069)2.54190772
187regulation of dopamine metabolic process (GO:0042053)2.54190772
188generation of neurons (GO:0048699)2.53042225
189negative regulation of dendrite development (GO:2000171)2.52720691
190regulation of membrane repolarization (GO:0060306)2.52615703
191regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.52293063
192regulation of lipoprotein lipase activity (GO:0051004)2.51859129
193potassium ion import (GO:0010107)2.50279441

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human7.30762678
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse7.23703708
3TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat6.29157281
4CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons4.66689334
5NR4A2_19515692_ChIP-ChIP_MN9D_Mouse3.76821291
6CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.78424538
7MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.78192058
8* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.70735253
9* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.70735253
10* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.66135474
11JARID2_20064375_ChIP-Seq_MESCs_Mouse2.54795862
12SCL_19346495_ChIP-Seq_HPC-7_Human2.51681507
13* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.51447841
14* EZH2_27294783_Chip-Seq_ESCs_Mouse2.49101292
15NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.48661764
16IKZF1_21737484_ChIP-ChIP_HCT116_Human2.46578730
17SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.46112097
18IGF1R_20145208_ChIP-Seq_DFB_Human2.43558871
19* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.39126638
20ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.37093969
21* EED_16625203_ChIP-ChIP_MESCs_Mouse2.36018908
22EZH2_27304074_Chip-Seq_ESCs_Mouse2.35926707
23ELF1_20517297_ChIP-Seq_JURKAT_Human2.32536951
24ELF1_17652178_ChIP-ChIP_JURKAT_Human2.30357213
25* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.26349708
26* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.24577543
27ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.15568318
28* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.14983219
29* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.05624239
30DROSHA_22980978_ChIP-Seq_HELA_Human2.03566690
31DMRT1_21621532_ChIP-ChIP_FETAL_Ovary2.00920954
32* REST_21632747_ChIP-Seq_MESCs_Mouse1.99850914
33JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.96188879
34GATA1_22025678_ChIP-Seq_K562_Human1.96127874
35* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.94163579
36ERG_21242973_ChIP-ChIP_JURKAT_Human1.93382457
37VDR_21846776_ChIP-Seq_THP-1_Human1.92888674
38EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.91867030
39LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.90448014
40ZFP281_18757296_ChIP-ChIP_E14_Mouse1.85431869
41P68_20966046_ChIP-Seq_HELA_Human1.83087483
42BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.82899133
43PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.80392878
44CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.80236263
45* REST_18959480_ChIP-ChIP_MESCs_Mouse1.77065372
46* CTCF_27219007_Chip-Seq_Bcells_Human1.76186103
47CDX2_19796622_ChIP-Seq_MESCs_Mouse1.75737684
48* RING1B_27294783_Chip-Seq_ESCs_Mouse1.73924934
49ETS1_20019798_ChIP-Seq_JURKAT_Human1.72971724
50THAP11_20581084_ChIP-Seq_MESCs_Mouse1.71539408
51CTBP2_25329375_ChIP-Seq_LNCAP_Human1.70201094
52PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.69190487
53BCL6_27268052_Chip-Seq_Bcells_Human1.67488172
54ESR1_15608294_ChIP-ChIP_MCF-7_Human1.66152098
55TP53_20018659_ChIP-ChIP_R1E_Mouse1.54990449
56KDM2B_26808549_Chip-Seq_K562_Human1.54962348
57ERA_21632823_ChIP-Seq_H3396_Human1.51358907
58PHF8_20622854_ChIP-Seq_HELA_Human1.51168516
59AR_21572438_ChIP-Seq_LNCaP_Human1.50871284
60HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.50219255
61GABP_19822575_ChIP-Seq_HepG2_Human1.48864853
62RNF2_27304074_Chip-Seq_ESCs_Mouse1.45190592
63RARB_27405468_Chip-Seq_BRAIN_Mouse1.40796439
64FOXP1_21924763_ChIP-Seq_HESCs_Human1.40155386
65PU.1_20513432_ChIP-Seq_Bcells_Mouse1.36833264
66* CTCF_20526341_ChIP-Seq_ESCs_Human1.35922194
67FUS_26573619_Chip-Seq_HEK293_Human1.35665966
68TRIM28_21343339_ChIP-Seq_HEK293_Human1.35614989
69SA1_27219007_Chip-Seq_ERYTHROID_Human1.35283472
70TET1_21451524_ChIP-Seq_MESCs_Mouse1.34636757
71EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.33347496
72MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.32138627
73CTCF_18555785_ChIP-Seq_MESCs_Mouse1.31771064
74NOTCH1_21737748_ChIP-Seq_TLL_Human1.31337652
75TAF15_26573619_Chip-Seq_HEK293_Human1.31238328
76PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.29744679
77* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.27789234
78OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.27698468
79CTCF_21964334_ChIP-Seq_BJAB-B_Human1.27347111
80EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.27310297
81SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.26439744
82* SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.25563327
83CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.25075784
84DNAJC2_21179169_ChIP-ChIP_NT2_Human1.23196949
85P53_22127205_ChIP-Seq_FIBROBLAST_Human1.22678719
86ZNF274_21170338_ChIP-Seq_K562_Hela1.22263391
87HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.21957766
88TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.21612373
89ZNF263_19887448_ChIP-Seq_K562_Human1.20188247
90MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.20081287
91MYC_18358816_ChIP-ChIP_MESCs_Mouse1.19365657
92NR3C1_23031785_ChIP-Seq_PC12_Mouse1.18725811
93TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.18536760
94E2F1_20622854_ChIP-Seq_HELA_Human1.16713117
95SOX2_21211035_ChIP-Seq_LN229_Gbm1.15717757
96PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.15204361
97TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.14545250
98ESR2_21235772_ChIP-Seq_MCF-7_Human1.13579865
99SRY_22984422_ChIP-ChIP_TESTIS_Rat1.13184750
100KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.12964572
101THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.11580891
102BMI1_23680149_ChIP-Seq_NPCS_Mouse1.11269265
103ETS1_21867929_ChIP-Seq_TH2_Mouse1.10332836
104* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.10260721
105TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.10061754
106BP1_19119308_ChIP-ChIP_Hs578T_Human1.08827623
107SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.08700111
108AR_25329375_ChIP-Seq_VCAP_Human1.08395220
109TOP2B_26459242_ChIP-Seq_MCF-7_Human1.07394323
110VDR_24763502_ChIP-Seq_THP-1_Human1.07121261
111KLF4_19829295_ChIP-Seq_ESCs_Human1.06811299
112TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.06330917
113VDR_22108803_ChIP-Seq_LS180_Human1.05933681
114ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.05802834
115KDM2B_26808549_Chip-Seq_SUP-B15_Human1.04718155
116TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.04636995
117OCT4_19829295_ChIP-Seq_ESCs_Human1.04496909
118YY1_22570637_ChIP-Seq_MALME-3M_Human1.04056626
119KDM2B_26808549_Chip-Seq_JURKAT_Human1.04028005
120* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.03842885
121POU5F1_16153702_ChIP-ChIP_HESCs_Human1.02391197
122YY1_21170310_ChIP-Seq_MESCs_Mouse1.02011499
123GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01805230
124* SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.01623829
125NCOR1_26117541_ChIP-Seq_K562_Human1.01147556
126SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.00591049
127SA1_27219007_Chip-Seq_Bcells_Human1.00261595
128WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.00061813
129ELK4_26923725_Chip-Seq_MESODERM_Mouse0.99113855
130RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.98865921
131DCP1A_22483619_ChIP-Seq_HELA_Human0.98342156
132FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97275836
133CTCF_21964334_Chip-Seq_Bcells_Human0.96743418
134EP300_21415370_ChIP-Seq_HL-1_Mouse0.96338755
135CBX2_27304074_Chip-Seq_ESCs_Mouse0.96086547
136TBX20_22080862_ChIP-Seq_HEART_Mouse0.95115517
137TBX20_22328084_ChIP-Seq_HEART_Mouse0.95115517
138GATA1_19941826_ChIP-Seq_K562_Human0.94784394
139LXR_22292898_ChIP-Seq_THP-1_Human0.94506082
140SMC4_20622854_ChIP-Seq_HELA_Human0.93871344
141CTCF_27219007_Chip-Seq_ERYTHROID_Human0.92784454
142BCOR_27268052_Chip-Seq_Bcells_Human0.92672989
143GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.92425401
144PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.92300323
145E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.92249171
146E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.90107654
147ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.89689434
148* LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.89469953
149FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.89346933
150TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.89245813
151DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.88935732
152ELK3_25401928_ChIP-Seq_HUVEC_Human0.88606310
153* RING1B_27294783_Chip-Seq_NPCs_Mouse0.88443045
154KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.88329720
155AHR_22903824_ChIP-Seq_MCF-7_Human0.88029351
156VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.87444424
157SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.86516748
158EOMES_21245162_ChIP-Seq_HESCs_Human0.86263200
159DPY_21335234_ChIP-Seq_ESCs_Mouse0.85509103
160RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.85468538
161TET1_21490601_ChIP-Seq_MESCs_Mouse0.84997509
162SMAD4_21741376_ChIP-Seq_HESCs_Human0.84496802
163TP53_16413492_ChIP-PET_HCT116_Human0.82466579
164FOXH1_21741376_ChIP-Seq_ESCs_Human0.82126639
165* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.81928235
166CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.81760358
167YAP1_20516196_ChIP-Seq_MESCs_Mouse0.81508794
168* RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.80682664
169SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.79048974
170NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.78556931
171CLOCK_20551151_ChIP-Seq_293T_Human0.78400173
172IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.77423338
173CBP_20019798_ChIP-Seq_JUKART_Human0.77423338

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002163_abnormal_gland_morphology5.77390729
2MP0004858_abnormal_nervous_system5.64415402
3MP0005645_abnormal_hypothalamus_physiol5.11926139
4MP0009278_abnormal_bone_marrow4.57633263
5MP0002653_abnormal_ependyma_morphology4.52949070
6MP0002396_abnormal_hematopoietic_system4.42470174
7MP0005379_endocrine/exocrine_gland_phen4.06241252
8MP0000751_myopathy3.75817225
9MP0000678_abnormal_parathyroid_gland3.69318217
10MP0001986_abnormal_taste_sensitivity3.65679269
11MP0004145_abnormal_muscle_electrophysio3.55928538
12MP0002735_abnormal_chemical_nociception3.52160625
13MP0005646_abnormal_pituitary_gland3.34424704
14MP0001968_abnormal_touch/_nociception3.31834501
15MP0008004_abnormal_stomach_pH3.16341455
16MP0004859_abnormal_synaptic_plasticity2.72997207
17MP0004270_analgesia2.70143000
18MP0002837_dystrophic_cardiac_calcinosis2.61764716
19MP0005451_abnormal_body_composition2.54788358
20MP0006276_abnormal_autonomic_nervous2.53116682
21MP0000749_muscle_degeneration2.51533733
22MP0003656_abnormal_erythrocyte_physiolo2.40785665
23MP0000604_amyloidosis2.34595046
24MP0003191_abnormal_cellular_cholesterol2.33963380
25MP0003646_muscle_fatigue2.27039324
26MP0008775_abnormal_heart_ventricle2.25653518
27MP0003880_abnormal_central_pattern2.24673120
28MP0000465_gastrointestinal_hemorrhage2.17966930
29MP0005423_abnormal_somatic_nervous2.16750476
30MP0002734_abnormal_mechanical_nocicepti2.16033900
31MP0008789_abnormal_olfactory_epithelium2.09671234
32MP0005499_abnormal_olfactory_system2.05661563
33MP0005394_taste/olfaction_phenotype2.05661563
34MP0001545_abnormal_hematopoietic_system2.04981701
35MP0005397_hematopoietic_system_phenotyp2.04981701
36MP0002106_abnormal_muscle_physiology2.03431352
37MP0000747_muscle_weakness2.00102817
38MP0003635_abnormal_synaptic_transmissio1.92770310
39MP0001984_abnormal_olfaction1.89293739
40MP0002822_catalepsy1.84741999
41MP0004036_abnormal_muscle_relaxation1.81850724
42MP0004087_abnormal_muscle_fiber1.80785221
43MP0005551_abnormal_eye_electrophysiolog1.78722519
44MP0004484_altered_response_of1.77133463
45MP0004084_abnormal_cardiac_muscle1.75488453
46MP0004130_abnormal_muscle_cell1.75202107
47MP0009745_abnormal_behavioral_response1.71303875
48MP0000759_abnormal_skeletal_muscle1.69323217
49MP0005620_abnormal_muscle_contractility1.68503486
50MP0005369_muscle_phenotype1.60405738
51MP0000750_abnormal_muscle_regeneration1.59348205
52MP0002733_abnormal_thermal_nociception1.58205184
53MP0004215_abnormal_myocardial_fiber1.55399455
54MP0002269_muscular_atrophy1.52379321
55MP0005330_cardiomyopathy1.49725736
56MP0002972_abnormal_cardiac_muscle1.49583397
57MP0001664_abnormal_digestion1.48408581
58MP0005670_abnormal_white_adipose1.41716857
59MP0002063_abnormal_learning/memory/cond1.40254821
60MP0001905_abnormal_dopamine_level1.38989568
61MP0002272_abnormal_nervous_system1.36997548
62MP0001529_abnormal_vocalization1.28643046
63MP0001970_abnormal_pain_threshold1.27907451
64MP0002184_abnormal_innervation1.27729919
65* MP0002572_abnormal_emotion/affect_behav1.25349631
66MP0003806_abnormal_nucleotide_metabolis1.24960313
67MP0001440_abnormal_grooming_behavior1.23261167
68MP0002971_abnormal_brown_adipose1.18634378
69MP0006072_abnormal_retinal_apoptosis1.17242599
70MP0000003_abnormal_adipose_tissue1.16856707
71MP0002067_abnormal_sensory_capabilities1.16360030
72MP0008872_abnormal_physiological_respon1.12748435
73MP0008995_early_reproductive_senescence1.12740896
74MP0005165_increased_susceptibility_to1.11737773
75MP0003632_abnormal_nervous_system1.09046738
76MP0005386_behavior/neurological_phenoty1.08569126
77MP0004924_abnormal_behavior1.08569126
78MP0004085_abnormal_heartbeat1.08445833
79MP0002064_seizures1.08440057
80MP0003137_abnormal_impulse_conducting1.08058235
81MP0002234_abnormal_pharynx_morphology1.06248338
82MP0005084_abnormal_gallbladder_morpholo1.06173824
83MP0003329_amyloid_beta_deposits1.03662468
84MP0009333_abnormal_splenocyte_physiolog1.01427735
85MP0006292_abnormal_olfactory_placode0.99650500
86MP0001188_hyperpigmentation0.98994804
87MP0000427_abnormal_hair_cycle0.98862138
88* MP0001486_abnormal_startle_reflex0.98227528
89MP0003718_maternal_effect0.96171608
90MP0002332_abnormal_exercise_endurance0.96081185
91MP0002736_abnormal_nociception_after0.95975378
92MP0000639_abnormal_adrenal_gland0.95972020
93MP0002127_abnormal_cardiovascular_syste0.95047868
94MP0002132_abnormal_respiratory_system0.91815190
95MP0002102_abnormal_ear_morphology0.91502418
96MP0000013_abnormal_adipose_tissue0.89759334
97MP0004811_abnormal_neuron_physiology0.89635736
98MP0008569_lethality_at_weaning0.88860244
99MP0005636_abnormal_mineral_homeostasis0.87746230
100MP0005334_abnormal_fat_pad0.87317574
101MP0002069_abnormal_eating/drinking_beha0.86720790
102MP0004142_abnormal_muscle_tone0.84897515
103MP0002160_abnormal_reproductive_system0.82833435
104MP0002405_respiratory_system_inflammati0.82132583
105MP0004233_abnormal_muscle_weight0.81511587
106MP0001727_abnormal_embryo_implantation0.79050380
107MP0003122_maternal_imprinting0.78586924
108MP0003221_abnormal_cardiomyocyte_apopto0.78504524
109MP0004883_abnormal_blood_vessel0.77706182
110MP0005385_cardiovascular_system_phenoty0.77331960
111MP0001544_abnormal_cardiovascular_syste0.77331960
112MP0003183_abnormal_peptide_metabolism0.76845297
113MP0003948_abnormal_gas_homeostasis0.75120821
114MP0001765_abnormal_ion_homeostasis0.74569621
115MP0001756_abnormal_urination0.72994744
116MP0004885_abnormal_endolymph0.72734943
117MP0001177_atelectasis0.72141901
118MP0001790_abnormal_immune_system0.71831761
119MP0005387_immune_system_phenotype0.71831761
120MP0004272_abnormal_basement_membrane0.71402084
121MP0002066_abnormal_motor_capabilities/c0.69998011
122MP0009643_abnormal_urine_homeostasis0.69541572
123MP0010630_abnormal_cardiac_muscle0.67402220
124* MP0002882_abnormal_neuron_morphology0.65174321
125MP0003638_abnormal_response/metabolism_0.64989505
126MP0003385_abnormal_body_wall0.64716571
127MP0005535_abnormal_body_temperature0.64559896
128MP0001958_emphysema0.63141461
129MP0005647_abnormal_sex_gland0.63020199
130MP0005332_abnormal_amino_acid0.61507265
131MP0003890_abnormal_embryonic-extraembry0.61330121
132MP0009840_abnormal_foam_cell0.60997067
133MP0000681_abnormal_thyroid_gland0.60782191
134MP0002638_abnormal_pupillary_reflex0.60096249
135MP0005253_abnormal_eye_physiology0.60093114
136MP0000955_abnormal_spinal_cord0.59983783
137MP0006138_congestive_heart_failure0.59278604
138MP0003123_paternal_imprinting0.57758010
139MP0009046_muscle_twitch0.57596842
140MP0000778_abnormal_nervous_system0.57197858
141MP0003315_abnormal_perineum_morphology0.56325544
142MP0003631_nervous_system_phenotype0.55514725
143MP0006036_abnormal_mitochondrial_physio0.54790419
144MP0009115_abnormal_fat_cell0.54777408
145MP0002751_abnormal_autonomic_nervous0.54288597
146MP0002098_abnormal_vibrissa_morphology0.53968684
147MP0005623_abnormal_meninges_morphology0.53138374
148MP0000371_diluted_coat_color0.52698102
149MP0008873_increased_physiological_sensi0.52140106
150MP0000733_abnormal_muscle_development0.51678753
151MP0000538_abnormal_urinary_bladder0.51183204
152MP0008875_abnormal_xenobiotic_pharmacok0.50495146
153MP0005266_abnormal_metabolism0.50455195
154MP0002229_neurodegeneration0.50339954
155MP0002909_abnormal_adrenal_gland0.49750032
156MP0003186_abnormal_redox_activity0.48940414
157MP0005167_abnormal_blood-brain_barrier0.48858068
158MP0002557_abnormal_social/conspecific_i0.48619858

Predicted human phenotypes

RankGene SetZ-score
1Generalized aminoaciduria (HP:0002909)7.41650165
2Male infertility (HP:0003251)6.54322475
3Renal Fanconi syndrome (HP:0001994)6.15018216
4Hypophosphatemic rickets (HP:0004912)5.98955735
5Hyporeflexia of lower limbs (HP:0002600)5.89876210
6Distal lower limb muscle weakness (HP:0009053)5.56402416
7Exercise-induced myalgia (HP:0003738)4.90299504
8Abnormality of the costochondral junction (HP:0000919)4.87672067
9Muscle fiber splitting (HP:0003555)4.76369099
10Exercise-induced muscle cramps (HP:0003710)4.57102431
11Recurrent corneal erosions (HP:0000495)4.38779443
12Muscle fiber inclusion bodies (HP:0100299)4.32780768
13Fetal akinesia sequence (HP:0001989)4.32016435
14Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)4.31297983
15Muscle hypertrophy of the lower extremities (HP:0008968)4.22611638
16Areflexia of lower limbs (HP:0002522)4.18682101
17Sudden death (HP:0001699)4.10702424
18Myotonia (HP:0002486)4.10051167
19Calf muscle hypertrophy (HP:0008981)4.09228052
20Ulnar claw (HP:0001178)4.09212422
21Delayed puberty (HP:0000823)4.08121910
22Abnormality of fatty-acid metabolism (HP:0004359)4.04794367
23Abnormal drinking behavior (HP:0030082)3.96871742
24Polydipsia (HP:0001959)3.96871742
25Tetany (HP:0001281)3.94613799
26Difficulty running (HP:0009046)3.93736241
27Nemaline bodies (HP:0003798)3.83224751
28EMG: myopathic abnormalities (HP:0003458)3.64796683
29Hypoglycemic seizures (HP:0002173)3.55079352
30Distal lower limb amyotrophy (HP:0008944)3.45942987
31Abnormality of renal resorption (HP:0011038)3.41591612
32Hyperphosphatemia (HP:0002905)3.38940657
33Myokymia (HP:0002411)3.38928390
34Muscle stiffness (HP:0003552)3.37563649
35Calcaneovalgus deformity (HP:0001848)3.33230778
36Foot dorsiflexor weakness (HP:0009027)3.24985619
37Abnormality of the calf musculature (HP:0001430)3.24386879
38EMG: neuropathic changes (HP:0003445)3.16695194
39Lower limb amyotrophy (HP:0007210)3.15881583
40Decreased activity of mitochondrial respiratory chain (HP:0008972)3.10575283
41Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.10575283
42Increased variability in muscle fiber diameter (HP:0003557)3.08230424
43Congenital stationary night blindness (HP:0007642)3.07885848
44Deformed tarsal bones (HP:0008119)3.03557646
45Myoglobinuria (HP:0002913)3.02908882
46Nephrogenic diabetes insipidus (HP:0009806)3.00395455
47Abnormality of calcium-phosphate metabolism (HP:0100530)2.99414155
48Abnormality of the foot musculature (HP:0001436)2.98438347
49Distal arthrogryposis (HP:0005684)2.97777200
50Gait imbalance (HP:0002141)2.93730224
51Type 1 muscle fiber predominance (HP:0003803)2.92263432
52Polyuria (HP:0000103)2.87554325
53Abnormality of skeletal muscle fiber size (HP:0012084)2.85862992
54Increased connective tissue (HP:0009025)2.85061700
55Ankle clonus (HP:0011448)2.80425340
56Axonal loss (HP:0003447)2.79577870
57Exocrine pancreatic insufficiency (HP:0001738)2.78840140
58Abnormality of urine glucose concentration (HP:0011016)2.77191437
59Glycosuria (HP:0003076)2.77191437
60Absent speech (HP:0001344)2.76880906
61Hyponatremia (HP:0002902)2.76664224
62Steppage gait (HP:0003376)2.75877079
63Urinary bladder sphincter dysfunction (HP:0002839)2.75325442
64Acute lymphatic leukemia (HP:0006721)2.70507374
65Congenital primary aphakia (HP:0007707)2.70154270
66Difficulty climbing stairs (HP:0003551)2.68037712
67Increased intramyocellular lipid droplets (HP:0012240)2.67494824
68Type I diabetes mellitus (HP:0100651)2.64173595
69Increased muscle lipid content (HP:0009058)2.62289145
70Ventricular fibrillation (HP:0001663)2.59535123
71Medial flaring of the eyebrow (HP:0010747)2.57027319
72Urinary urgency (HP:0000012)2.53111472
73Ventricular tachycardia (HP:0004756)2.51018512
74Muscle fiber atrophy (HP:0100295)2.49577529
75Aplasia of the musculature (HP:0100854)2.46853664
76Atrial fibrillation (HP:0005110)2.45159014
77Abnormal mitochondria in muscle tissue (HP:0008316)2.43204809
78Ulnar deviation of the wrist (HP:0003049)2.42201358
79Hepatocellular necrosis (HP:0001404)2.41605827
80Mitochondrial inheritance (HP:0001427)2.41228469
81Progressive neurologic deterioration (HP:0002344)2.41177299
82Primary atrial arrhythmia (HP:0001692)2.40090103
83Popliteal pterygium (HP:0009756)2.40021022
84Dysautonomia (HP:0002459)2.39918448
85Abnormal urine output (HP:0012590)2.38891348
86Hypoparathyroidism (HP:0000829)2.38657008
87Increased IgM level (HP:0003496)2.37356032
88Neck muscle weakness (HP:0000467)2.33851055
89Akinesia (HP:0002304)2.33425789
90Pheochromocytoma (HP:0002666)2.31568018
91Myopathic facies (HP:0002058)2.31549113
92Rimmed vacuoles (HP:0003805)2.29191114
93Hyperacusis (HP:0010780)2.29189662
94Termporal pattern (HP:0011008)2.25670246
95Insidious onset (HP:0003587)2.25670246
96Decreased testicular size (HP:0008734)2.25381168
97Metaphyseal dysplasia (HP:0100255)2.25362192
98Malignant hyperthermia (HP:0002047)2.25341659
99Supraventricular tachycardia (HP:0004755)2.24708028
100Abnormality of the corticospinal tract (HP:0002492)2.22998837
101Supraventricular arrhythmia (HP:0005115)2.21821504
102Neuroendocrine neoplasm (HP:0100634)2.21766724
103Round ear (HP:0100830)2.20621226
104Right ventricular cardiomyopathy (HP:0011663)2.19376543
105Atrioventricular block (HP:0001678)2.15894336
106Bundle branch block (HP:0011710)2.15737705
107Portal hypertension (HP:0001409)2.15708607
108Abnormality of placental membranes (HP:0011409)2.14801401
109Amniotic constriction ring (HP:0009775)2.14801401
110Rickets (HP:0002748)2.14198608
111Hepatic necrosis (HP:0002605)2.11951548
112Neonatal respiratory distress (HP:0002643)2.09033758
113Type 2 muscle fiber atrophy (HP:0003554)2.07811658
114Decreased muscle mass (HP:0003199)2.06985778
115Hypokalemia (HP:0002900)2.04734266
116Long clavicles (HP:0000890)2.04184410
117Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.04037060
118Abnormality of alanine metabolism (HP:0010916)2.04037060
119Hyperalaninemia (HP:0003348)2.04037060
120Abnormality of the left ventricular outflow tract (HP:0011103)2.04012959
121Subaortic stenosis (HP:0001682)2.04012959
122Decreased motor nerve conduction velocity (HP:0003431)2.02445009
123Palpitations (HP:0001962)2.01871373
124Ventricular arrhythmia (HP:0004308)2.01819303
125Abnormality of the hepatic vasculature (HP:0006707)2.00566565
126Symptomatic seizures (HP:0011145)2.00450709
127Gastrointestinal stroma tumor (HP:0100723)2.00330778
128Abnormality of sodium homeostasis (HP:0010931)1.99136147
129Centrally nucleated skeletal muscle fibers (HP:0003687)1.98928602
130Abnormality of renal excretion (HP:0011036)1.97023320
131Neoplasm of the peripheral nervous system (HP:0100007)1.96949913
132Action tremor (HP:0002345)1.96897860
133Polyphagia (HP:0002591)1.96044880
134Hypertensive crisis (HP:0100735)1.94718392
135Unilateral renal agenesis (HP:0000122)1.93944270
136External ophthalmoplegia (HP:0000544)1.93222112
137Hypoplastic heart (HP:0001961)1.93170720
138Distal sensory impairment (HP:0002936)1.92826634
139Elfin facies (HP:0004428)1.92539131
140Impaired vibration sensation in the lower limbs (HP:0002166)1.92146279
141Lipoatrophy (HP:0100578)1.91903320
142Rhabdomyolysis (HP:0003201)1.91807146
143Multiple enchondromatosis (HP:0005701)1.90678003
144Achilles tendon contracture (HP:0001771)1.90197479
145Abnormal autonomic nervous system physiology (HP:0012332)1.89899583
146Febrile seizures (HP:0002373)1.89109902
147Onion bulb formation (HP:0003383)1.88574227
148Acute necrotizing encephalopathy (HP:0006965)1.88324220
149Poor suck (HP:0002033)1.86615658
150Increased CSF lactate (HP:0002490)1.85852225
151Heart block (HP:0012722)1.82836930
152Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.82426721
153Shoulder girdle muscle weakness (HP:0003547)1.81881468
154Nasal speech (HP:0001611)1.81727230
155Abnormality of the calcaneus (HP:0008364)1.81487106
156Abnormality of the Achilles tendon (HP:0005109)1.80949212
157Acute encephalopathy (HP:0006846)1.80939908
158Focal motor seizures (HP:0011153)1.80658751
159Optic disc pallor (HP:0000543)1.79741680
160Gliosis (HP:0002171)1.78908572
161Vaginal atresia (HP:0000148)1.78446707
162Wrist flexion contracture (HP:0001239)1.77496611
163Dysphonia (HP:0001618)1.76424935
164Rapidly progressive (HP:0003678)1.75948930
165Syncope (HP:0001279)1.75590642
166Orthostatic hypotension (HP:0001278)1.75211595
167Limb dystonia (HP:0002451)1.74564852
168Proximal amyotrophy (HP:0007126)1.74185667
169Abnormal atrioventricular conduction (HP:0005150)1.73997940
170Gout (HP:0001997)1.73726634
171Lissencephaly (HP:0001339)1.73515675
172Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.73335643
173Abnormality of sulfur amino acid metabolism (HP:0004339)1.73080695
174Generalized tonic-clonic seizures (HP:0002069)1.72853314
175Failure to thrive in infancy (HP:0001531)1.72677343
176Polygenic inheritance (HP:0010982)1.71648083
177Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.70597681
178Delusions (HP:0000746)1.70411283
179Overriding aorta (HP:0002623)1.70328133
180Agammaglobulinemia (HP:0004432)1.70129949
181Increased neuronal autofluorescent lipopigment (HP:0002074)1.68929465
182Lactic acidosis (HP:0003128)1.67926925
183Truncal obesity (HP:0001956)1.67609881
184Renovascular hypertension (HP:0100817)1.66341702
185Decreased electroretinogram (ERG) amplitude (HP:0000654)1.65375834
186Genital tract atresia (HP:0001827)1.64311395
187Macroglossia (HP:0000158)1.62722414
188Progressive macrocephaly (HP:0004481)1.62685847
189Abnormal EKG (HP:0003115)1.62606545
190Alacrima (HP:0000522)1.61735212
191Infertility (HP:0000789)1.61232733

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TNIK7.74181514
2FLT35.58518022
3MAP3K114.44800448
4PRKG24.21862570
5MAP4K13.07713761
6MAPKAPK33.07211546
7PHKG12.80926402
8PHKG22.80926402
9KIT2.78716257
10PRKD22.71750985
11NEK12.66164200
12NLK2.59292596
13TTN2.52340021
14TAOK22.43790493
15PRPF4B2.35457242
16BLK2.32570672
17MARK12.30214873
18EPHB12.29594800
19PNCK2.18195001
20TRIB32.08984689
21NTRK32.08308193
22OBSCN2.00337277
23MAP4K21.99623290
24MINK11.95633259
25CAMK1G1.88726405
26CSF1R1.77801709
27UHMK11.75437437
28PAK61.70740020
29IKBKE1.57779815
30CAMKK21.46407117
31PIK3CA1.43609931
32PKN11.43424874
33LMTK21.41948690
34NME11.41711931
35CDC42BPA1.40636865
36MUSK1.34051679
37TAOK11.33135411
38TRIM281.32718845
39TESK11.31367515
40ADRBK21.28444781
41NTRK11.22601139
42PAK31.19652021
43LATS21.18601643
44NTRK21.15009036
45GRK51.14329935
46ZAK1.09005130
47MAPK121.07961546
48CAMKK11.07324358
49RPS6KB21.05608637
50LIMK11.05547552
51BCR1.05264851
52MAP2K41.03628908
53ALK0.98682896
54MAP3K90.98386943
55MARK20.97393964
56STK380.96921303
57CDK190.96332655
58ZAP700.95192781
59TAOK30.93161835
60PINK10.89455340
61PIM20.81098870
62MAPK130.80181109
63ROCK20.79329368
64INSRR0.78748381
65SIK20.78344432
66FES0.78195855
67CAMK10.77021833
68PDK30.76263784
69PDK40.76263784
70SGK2230.74806203
71SGK4940.74806203
72MAPK40.74607617
73MAP2K70.74065670
74MAP3K120.72438850
75TIE10.70997720
76DYRK1A0.69711378
77CAMK1D0.69595021
78ABL20.69129373
79KSR20.68925412
80DYRK1B0.67915940
81CAMK2A0.67798612
82SCYL20.66408620
83CCNB10.65871073
84PRKCE0.65476782
85CDK50.65018276
86FER0.64730714
87ERBB30.61657976
88GRK10.61405302
89PTK20.61125848
90NEK60.60241282
91SIK30.59592470
92PRKD10.58309095
93CAMK2G0.58236746
94VRK20.54682280
95BUB10.54491859
96CDK140.53772668
97CAMK2D0.53734147
98DYRK20.53567423
99STK110.53040785
100DAPK10.51908537
101MAP2K60.51721746
102PRKG10.50573305
103PDGFRA0.50477483
104PTK60.49966042
105MAP3K10.49129860
106PKN20.48652724
107CSNK1G30.48507405
108MAP3K40.47741145
109PRKCG0.46218389
110SIK10.44535019
111MYLK0.44333046
112PIM10.44250198
113PIK3CG0.42179504
114PLK20.40427526
115MAP2K10.40087155
116PRKAA20.40085649
117PRKCH0.39965855
118MAP2K20.39963088
119TESK20.39658665
120MAP3K130.38218008
121OXSR10.37951913
122KDR0.37714971
123TBK10.37339730
124CAMK40.37274582
125MOS0.36700667
126CDK11A0.36429248
127RPS6KA50.35994677
128TNK20.35505374
129MATK0.35157325
130ROCK10.34697741
131PRKAA10.34122043
132CSNK1G20.33194212
133PRKACA0.32279038
134DAPK30.32096600
135MAP3K70.31981897
136DMPK0.31741404
137CSNK1E0.30482011
138EPHA40.29383562
139EPHA30.28920226
140MAP2K30.28193643
141JAK20.26899793
142PRKACG0.26626599
143IKBKB0.26260668
144CDK70.25864946
145RPS6KC10.25732686
146RPS6KL10.25732686
147PAK20.24744671
148RPS6KA60.23655731
149RPS6KB10.22805004
150CSNK1A10.21370948
151CSNK1A1L0.20912158
152FYN0.20382458
153HIPK20.19760876
154MAPK30.18543667
155PRKCQ0.18448054

Predicted pathways (KEGG)

RankGene SetZ-score
1Caffeine metabolism_Homo sapiens_hsa002324.45572692
2Cardiac muscle contraction_Homo sapiens_hsa042602.83215540
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.80408218
4Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.63456416
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.54020681
6Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.52803872
7Dilated cardiomyopathy_Homo sapiens_hsa054142.46457116
8Fructose and mannose metabolism_Homo sapiens_hsa000512.44680928
9Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.43910153
10Synaptic vesicle cycle_Homo sapiens_hsa047212.41516167
11Phototransduction_Homo sapiens_hsa047442.40444483
12Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007602.34419851
13Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.30041458
14Vasopressin-regulated water reabsorption_Homo sapiens_hsa049622.29565052
15Nitrogen metabolism_Homo sapiens_hsa009102.21818746
16One carbon pool by folate_Homo sapiens_hsa006702.11035451
17Regulation of lipolysis in adipocytes_Homo sapiens_hsa049232.08492549
182-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.97750216
19Olfactory transduction_Homo sapiens_hsa047401.91123863
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.88721027
21Base excision repair_Homo sapiens_hsa034101.74984424
22N-Glycan biosynthesis_Homo sapiens_hsa005101.66301263
23Parkinsons disease_Homo sapiens_hsa050121.62639623
24Oxidative phosphorylation_Homo sapiens_hsa001901.56874341
25Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.55881875
26Insulin secretion_Homo sapiens_hsa049111.46696416
27Oxytocin signaling pathway_Homo sapiens_hsa049211.46296115
28RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.43968620
29Fatty acid elongation_Homo sapiens_hsa000621.42077904
30Huntingtons disease_Homo sapiens_hsa050161.39813923
31GABAergic synapse_Homo sapiens_hsa047271.39653879
32Gastric acid secretion_Homo sapiens_hsa049711.38013211
33Taste transduction_Homo sapiens_hsa047421.36913206
34Galactose metabolism_Homo sapiens_hsa000521.36855226
35Glycerophospholipid metabolism_Homo sapiens_hsa005641.30103074
36Calcium signaling pathway_Homo sapiens_hsa040201.25175750
37Nicotine addiction_Homo sapiens_hsa050331.23855506
38alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.23837636
39Alzheimers disease_Homo sapiens_hsa050101.20646875
40Butanoate metabolism_Homo sapiens_hsa006501.19806480
41Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.19221643
42Carbon metabolism_Homo sapiens_hsa012001.18819680
43Aldosterone synthesis and secretion_Homo sapiens_hsa049251.17565384
44Lysosome_Homo sapiens_hsa041421.16831802
45Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.11454850
46Arginine biosynthesis_Homo sapiens_hsa002201.11401509
47Gap junction_Homo sapiens_hsa045401.10808049
48Circadian entrainment_Homo sapiens_hsa047131.08784938
49Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.05678296
50Long-term potentiation_Homo sapiens_hsa047201.05670916
51Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.04094761
52Renin secretion_Homo sapiens_hsa049241.03831956
53Dopaminergic synapse_Homo sapiens_hsa047281.02992571
54Insulin signaling pathway_Homo sapiens_hsa049101.00428585
55Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.99742722
56Peroxisome_Homo sapiens_hsa041460.98871470
57Glutamatergic synapse_Homo sapiens_hsa047240.98025344
58Oocyte meiosis_Homo sapiens_hsa041140.97691981
59Propanoate metabolism_Homo sapiens_hsa006400.96810068
60Pentose phosphate pathway_Homo sapiens_hsa000300.95959675
61RNA degradation_Homo sapiens_hsa030180.95893064
62Folate biosynthesis_Homo sapiens_hsa007900.94830338
63SNARE interactions in vesicular transport_Homo sapiens_hsa041300.94320867
64Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.89322402
65Platelet activation_Homo sapiens_hsa046110.88969042
66Cholinergic synapse_Homo sapiens_hsa047250.88422393
67Vibrio cholerae infection_Homo sapiens_hsa051100.87508159
68Glucagon signaling pathway_Homo sapiens_hsa049220.87437079
69Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.86670456
70Linoleic acid metabolism_Homo sapiens_hsa005910.86420349
71Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.86142882
72Morphine addiction_Homo sapiens_hsa050320.84604808
73Arginine and proline metabolism_Homo sapiens_hsa003300.84485530
74Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.84296541
75Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.83374463
76Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.82188465
77Dorso-ventral axis formation_Homo sapiens_hsa043200.81543428
78Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.80466007
79Fatty acid degradation_Homo sapiens_hsa000710.80313120
80Melanogenesis_Homo sapiens_hsa049160.79590005
81Ether lipid metabolism_Homo sapiens_hsa005650.79175955
82cAMP signaling pathway_Homo sapiens_hsa040240.78645175
83Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.78261862
84Biosynthesis of amino acids_Homo sapiens_hsa012300.75345446
85cGMP-PKG signaling pathway_Homo sapiens_hsa040220.75272202
86Primary immunodeficiency_Homo sapiens_hsa053400.75266236
87Amphetamine addiction_Homo sapiens_hsa050310.74927232
88Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.74185549
89Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.73965191
90Serotonergic synapse_Homo sapiens_hsa047260.71617056
91Salivary secretion_Homo sapiens_hsa049700.71599481
92Circadian rhythm_Homo sapiens_hsa047100.69780943
93Ribosome_Homo sapiens_hsa030100.69762291
94GnRH signaling pathway_Homo sapiens_hsa049120.68964039
95Proteasome_Homo sapiens_hsa030500.67953345
96Fatty acid metabolism_Homo sapiens_hsa012120.67300065
97Insulin resistance_Homo sapiens_hsa049310.66721328
98Other glycan degradation_Homo sapiens_hsa005110.66183687
99Axon guidance_Homo sapiens_hsa043600.66128954
100Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.65732059
101Thyroid cancer_Homo sapiens_hsa052160.65106469
102VEGF signaling pathway_Homo sapiens_hsa043700.63599151
103Arachidonic acid metabolism_Homo sapiens_hsa005900.61684782
104ErbB signaling pathway_Homo sapiens_hsa040120.61110869
105Vitamin B6 metabolism_Homo sapiens_hsa007500.60368688
106Metabolic pathways_Homo sapiens_hsa011000.58900865
107AMPK signaling pathway_Homo sapiens_hsa041520.56919961
108MAPK signaling pathway_Homo sapiens_hsa040100.56816752
109Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.56015353
110Adipocytokine signaling pathway_Homo sapiens_hsa049200.56006312
111Vascular smooth muscle contraction_Homo sapiens_hsa042700.54406975
112Renal cell carcinoma_Homo sapiens_hsa052110.54168977
113Ovarian steroidogenesis_Homo sapiens_hsa049130.53576590
114Long-term depression_Homo sapiens_hsa047300.53548640
115Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.53336966
116Pyruvate metabolism_Homo sapiens_hsa006200.52511803
117Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.51976324
118Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.51493359
119Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.51382443
120Prion diseases_Homo sapiens_hsa050200.50916043
121Type II diabetes mellitus_Homo sapiens_hsa049300.50751706
122Glutathione metabolism_Homo sapiens_hsa004800.50118868
123Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.50062856
124Phagosome_Homo sapiens_hsa041450.50018869
125Glioma_Homo sapiens_hsa052140.47802850
126Regulation of actin cytoskeleton_Homo sapiens_hsa048100.45046164
127Carbohydrate digestion and absorption_Homo sapiens_hsa049730.44759622
128Tyrosine metabolism_Homo sapiens_hsa003500.43938901
129Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.43731523
130Bile secretion_Homo sapiens_hsa049760.43278405
131Salmonella infection_Homo sapiens_hsa051320.42313027
132Focal adhesion_Homo sapiens_hsa045100.41010081
133Central carbon metabolism in cancer_Homo sapiens_hsa052300.40848599
134Transcriptional misregulation in cancer_Homo sapiens_hsa052020.40581785
135Collecting duct acid secretion_Homo sapiens_hsa049660.39976350
136HIF-1 signaling pathway_Homo sapiens_hsa040660.39822711
137Shigellosis_Homo sapiens_hsa051310.39401237
138Regulation of autophagy_Homo sapiens_hsa041400.38461271
139Longevity regulating pathway - mammal_Homo sapiens_hsa042110.37673297
140Sulfur relay system_Homo sapiens_hsa041220.36074560
141Steroid hormone biosynthesis_Homo sapiens_hsa001400.35875888
142Pancreatic secretion_Homo sapiens_hsa049720.35820578
143Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.35191207
144Phenylalanine metabolism_Homo sapiens_hsa003600.34356459
145Endometrial cancer_Homo sapiens_hsa052130.34295217
146ABC transporters_Homo sapiens_hsa020100.34293969
147Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.34186865
148Ras signaling pathway_Homo sapiens_hsa040140.33626974
149Herpes simplex infection_Homo sapiens_hsa051680.33406131
150Chemical carcinogenesis_Homo sapiens_hsa052040.33212492
151Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.30211327
152Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.29405124
153Nucleotide excision repair_Homo sapiens_hsa034200.28942492
154Acute myeloid leukemia_Homo sapiens_hsa052210.28828410
155NOD-like receptor signaling pathway_Homo sapiens_hsa046210.28363412
156Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.26899893
157Glycosaminoglycan degradation_Homo sapiens_hsa005310.25946425
158Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.25676608

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