COPS7A

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





Description: This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1endothelial tube morphogenesis (GO:0061154)9.85466980
2morphogenesis of an endothelium (GO:0003159)9.85466980
3regulation of endothelial cell chemotaxis (GO:2001026)8.77257480
4regulation of histone H3-K27 methylation (GO:0061085)7.90318253
5oxaloacetate metabolic process (GO:0006107)7.89300500
6magnesium ion transport (GO:0015693)7.79164543
7positive regulation of macrophage cytokine production (GO:0060907)7.20726088
8aminoglycoside antibiotic metabolic process (GO:0030647)6.83709398
9opsonization (GO:0008228)6.79347187
10maintenance of protein location in nucleus (GO:0051457)6.58365123
11regulation of activation of Janus kinase activity (GO:0010533)6.52987578
12positive regulation of keratinocyte differentiation (GO:0045618)6.36528678
13vascular endothelial growth factor signaling pathway (GO:0038084)6.30333217
14regulation of antigen receptor-mediated signaling pathway (GO:0050854)6.22356010
15protein localization to kinetochore (GO:0034501)6.14527288
16negative regulation of keratinocyte proliferation (GO:0010839)6.14376183
17male genitalia development (GO:0030539)6.08296803
18regulation of nuclear cell cycle DNA replication (GO:0033262)6.07087606
19regulation of mammary gland epithelial cell proliferation (GO:0033599)6.04630000
20negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)6.03760932
21negative regulation of telomerase activity (GO:0051974)6.01697141
22negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)5.98227447
23somite rostral/caudal axis specification (GO:0032525)5.93068951
24negative regulation of epidermis development (GO:0045683)5.86471036
25regulation of telomere maintenance via telomerase (GO:0032210)5.85020473
26cellular response to prostaglandin stimulus (GO:0071379)5.70663511
27positive regulation of DNA biosynthetic process (GO:2000573)5.63931430
28macrophage chemotaxis (GO:0048246)5.60195640
29negative regulation of viral entry into host cell (GO:0046597)5.55215104
30regulation of response to osmotic stress (GO:0047484)5.55001626
31negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)5.52531075
32histone H4-K12 acetylation (GO:0043983)5.51517003
33positive regulation of histone deacetylation (GO:0031065)5.47317956
34histone H4-K8 acetylation (GO:0043982)5.46882922
35histone H4-K5 acetylation (GO:0043981)5.46882922
36negative regulation of cell cycle G2/M phase transition (GO:1902750)5.44743593
37ganglioside metabolic process (GO:0001573)5.42342454
38positive regulation of activated T cell proliferation (GO:0042104)5.33693880
39rRNA transcription (GO:0009303)5.29722972
40regulation of histone deacetylation (GO:0031063)5.23241673
41mitotic sister chromatid segregation (GO:0000070)5.22568102
42glycosphingolipid biosynthetic process (GO:0006688)5.13459532
43positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610815.12543906
44positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)5.07131522
45primary amino compound metabolic process (GO:1901160)5.07011412
46barbed-end actin filament capping (GO:0051016)4.98760262
47cellular response to gamma radiation (GO:0071480)4.97151106
48regulation of cilium movement (GO:0003352)4.94160708
49regulation of MHC class I biosynthetic process (GO:0045343)4.90374499
50muscle organ morphogenesis (GO:0048644)4.88375079
51response to hepatocyte growth factor (GO:0035728)4.84922409
52cellular response to hepatocyte growth factor stimulus (GO:0035729)4.84922409
53rRNA methylation (GO:0031167)4.82799581
54positive regulation of CREB transcription factor activity (GO:0032793)4.81596204
55positive regulation of natural killer cell mediated immunity (GO:0002717)4.81067633
56notochord development (GO:0030903)4.78395759
57positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)4.76884999
58regulation of translation in response to stress (GO:0043555)4.66954540
59rRNA modification (GO:0000154)4.66608774
60reproductive system development (GO:0061458)4.63684042
61regulation of macrophage cytokine production (GO:0010935)4.62178660
62negative regulation of epidermal cell differentiation (GO:0045605)4.61575348
63DNA replication-dependent nucleosome organization (GO:0034723)4.61073006
64DNA replication-dependent nucleosome assembly (GO:0006335)4.61073006
65negative regulation of telomere maintenance (GO:0032205)4.60447731
66heterochromatin organization (GO:0070828)4.55036037
67protein localization to chromosome, centromeric region (GO:0071459)4.52148708
68quinone metabolic process (GO:1901661)4.42997655
69cytidine metabolic process (GO:0046087)4.38830522
70cytidine catabolic process (GO:0006216)4.38830522
71cytidine deamination (GO:0009972)4.38830522
72response to dietary excess (GO:0002021)4.36144496
73hormone catabolic process (GO:0042447)4.36060634
74regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)4.35585307
75positive regulation of epidermal cell differentiation (GO:0045606)4.35153911
76positive regulation of protein import into nucleus, translocation (GO:0033160)4.34100714
77DNA replication checkpoint (GO:0000076)4.32381012
78regulation of apoptotic process involved in morphogenesis (GO:1902337)4.29011415
79positive regulation of DNA-dependent DNA replication (GO:2000105)4.27786417
80response to prostaglandin E (GO:0034695)4.27755709
81coenzyme catabolic process (GO:0009109)4.27478240
82regulation of mitochondrial translation (GO:0070129)4.24953010
83intestinal epithelial cell development (GO:0060576)4.20712647
84sister chromatid segregation (GO:0000819)4.18442084
85GDP-mannose metabolic process (GO:0019673)4.17929741
86eosinophil chemotaxis (GO:0048245)4.17180892
87phenol-containing compound catabolic process (GO:0019336)4.16640233
88ventricular trabecula myocardium morphogenesis (GO:0003222)4.16203320
89negative regulation of viral release from host cell (GO:1902187)4.12947985
90regulation of chemokine-mediated signaling pathway (GO:0070099)4.11940664
91nucleoside transmembrane transport (GO:1901642)4.11233364
92cellular response to vitamin D (GO:0071305)4.10153803
93transcription from mitochondrial promoter (GO:0006390)4.09181485
94regulation of viral entry into host cell (GO:0046596)4.06225163
95embryonic heart tube development (GO:0035050)4.01999998
96maintenance of protein localization in organelle (GO:0072595)3.98597611
97primitive streak formation (GO:0090009)3.93733244
98formation of translation preinitiation complex (GO:0001731)3.90822116
99cellular response to thyroid hormone stimulus (GO:0097067)3.90361962
100branching involved in mammary gland duct morphogenesis (GO:0060444)3.90213574
101histone H4-K16 acetylation (GO:0043984)3.86594965
102regulation of telomerase activity (GO:0051972)3.85997430
103maturation of SSU-rRNA (GO:0030490)3.85039502
104hemoglobin metabolic process (GO:0020027)3.84892356
105ribosome biogenesis (GO:0042254)3.84474281
106sialylation (GO:0097503)3.82079803
107negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.81932807
108negative regulation of protein tyrosine kinase activity (GO:0061099)3.80139036
109cell fate commitment involved in formation of primary germ layer (GO:0060795)3.79878543
110regulation of chronic inflammatory response (GO:0002676)3.78740840
111eosinophil migration (GO:0072677)3.77840205
112nuclear pore complex assembly (GO:0051292)3.77554172
113chromatin assembly (GO:0031497)3.75515040
114regulation of mononuclear cell migration (GO:0071675)3.74919057
115cellular modified amino acid catabolic process (GO:0042219)3.74454835
116regulation of activated T cell proliferation (GO:0046006)3.74431640
117regulation of T cell receptor signaling pathway (GO:0050856)3.74005973
118ERK1 and ERK2 cascade (GO:0070371)3.69909063
119regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.64282685
120regulation of natural killer cell mediated immunity (GO:0002715)3.64282685
121negative regulation of phagocytosis (GO:0050765)3.61155011
122positive regulation of T cell apoptotic process (GO:0070234)3.59611172
123antibacterial humoral response (GO:0019731)3.59421400
124negative regulation of cell size (GO:0045792)3.57324122
125regulation of transcription from RNA polymerase I promoter (GO:0006356)3.57283050
126mRNA transcription (GO:0009299)3.55841097
127mitochondrion distribution (GO:0048311)3.54073237
128cellular sodium ion homeostasis (GO:0006883)3.53618862
129positive regulation of blood vessel endothelial cell migration (GO:0043536)3.53427393
130positive regulation of monocyte chemotaxis (GO:0090026)3.52944434
131nuclear pore organization (GO:0006999)3.52149816
132regulation of macrophage chemotaxis (GO:0010758)3.50194988
133pseudouridine synthesis (GO:0001522)3.50189339
134negative regulation of receptor activity (GO:2000272)3.49433393
135bone trabecula formation (GO:0060346)3.48282512
136regulation of translational termination (GO:0006449)3.47412290
137regulation of vitamin D biosynthetic process (GO:0060556)3.47262719
138vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.46842519
139intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)3.46330471
140regulation of posttranscriptional gene silencing (GO:0060147)3.45171455
141regulation of gene silencing by miRNA (GO:0060964)3.45171455
142regulation of gene silencing by RNA (GO:0060966)3.45171455
143otic vesicle formation (GO:0030916)3.44111614
144regulation of protein deacetylation (GO:0090311)3.42079784
145pre-miRNA processing (GO:0031054)3.41579513
146cellular response to vitamin (GO:0071295)3.39436927
147positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)3.33828560
148antimicrobial humoral response (GO:0019730)3.33240181
149microtubule severing (GO:0051013)3.32817126
150regulation of telomere maintenance (GO:0032204)3.32254355
151cardiovascular system development (GO:0072358)3.30877006
152maternal placenta development (GO:0001893)3.27685814
153protein polyglutamylation (GO:0018095)3.26645095
154interferon-gamma production (GO:0032609)3.26069881
155trophectodermal cell differentiation (GO:0001829)3.24499382
156DNA damage response, detection of DNA damage (GO:0042769)3.23972338
157intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)3.23765623
158positive regulation of smooth muscle cell migration (GO:0014911)3.22059635
159regulation of microtubule-based movement (GO:0060632)3.20850505
160retinoic acid receptor signaling pathway (GO:0048384)3.20471563
161microglial cell activation (GO:0001774)3.19064985
162regulation of intracellular estrogen receptor signaling pathway (GO:0033146)3.17726645
163cellular response to vascular endothelial growth factor stimulus (GO:0035924)3.15908828
164heart trabecula morphogenesis (GO:0061384)3.15778680
165vitamin A metabolic process (GO:0006776)3.15679222
166positive regulation of protein deacetylation (GO:0090312)3.13530407
167pyrimidine ribonucleoside catabolic process (GO:0046133)3.12779844
168adult heart development (GO:0007512)3.11849904
169regulation of odontogenesis of dentin-containing tooth (GO:0042487)3.11768144
170mitochondrial calcium ion transport (GO:0006851)3.11529900
171sperm capacitation (GO:0048240)3.10688002
172epoxygenase P450 pathway (GO:0019373)3.09475837
173polyamine biosynthetic process (GO:0006596)3.07833771
174thyroid hormone generation (GO:0006590)3.06508277
175cofactor transport (GO:0051181)3.06494926
176glutamine metabolic process (GO:0006541)3.06071817
177tRNA modification (GO:0006400)3.03129530
178apoptotic DNA fragmentation (GO:0006309)3.01173531
179L-serine metabolic process (GO:0006563)3.00049997
180mitotic chromosome condensation (GO:0007076)2.97927620
181response to thyroid hormone (GO:0097066)2.97262568
182thyroid hormone metabolic process (GO:0042403)2.97201320
183negative regulation of DNA biosynthetic process (GO:2000279)2.96895190
184negative regulation of potassium ion transmembrane transport (GO:1901380)2.96114935
185nucleoside transport (GO:0015858)2.95271432
186RNA stabilization (GO:0043489)2.95152494
187mRNA stabilization (GO:0048255)2.95152494
188arginine metabolic process (GO:0006525)2.94267949
189regulation of G0 to G1 transition (GO:0070316)2.94244908
190DNA duplex unwinding (GO:0032508)2.94130365
191histone arginine methylation (GO:0034969)2.91524212
192mitochondrial DNA replication (GO:0006264)2.90700765
193positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)15.6417917
194regulation of B cell receptor signaling pathway (GO:0050855)10.8796366
195polyketide metabolic process (GO:0030638)10.4294802
196doxorubicin metabolic process (GO:0044598)10.4294802
197daunorubicin metabolic process (GO:0044597)10.4294802

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SALL1_21062744_ChIP-ChIP_HESCs_Human6.21674065
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse5.92376337
3KLF2_18264089_ChIP-ChIP_MESCs_Mouse5.86802139
4KLF5_18264089_ChIP-ChIP_MESCs_Mouse5.86802139
5KLF4_18264089_ChIP-ChIP_MESCs_Mouse5.86802139
6TP63_17297297_ChIP-ChIP_HaCaT_Human5.60703488
7STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse5.58891411
8BP1_19119308_ChIP-ChIP_Hs578T_Human4.91271921
9VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human4.82524064
10NOTCH1_17114293_ChIP-ChIP_T-ALL_Human4.62178461
11DMRT1_21621532_ChIP-ChIP_FETAL_Ovary4.05470505
12E2F7_22180533_ChIP-Seq_HELA_Human4.01397212
13NACC1_18358816_ChIP-ChIP_MESCs_Mouse3.24610948
14POU5F1_18700969_ChIP-ChIP_MESCs_Mouse3.10175945
15GBX2_23144817_ChIP-Seq_PC3_Human3.04694020
16TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.83330157
17SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.71124682
18SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.66744510
19NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.61413089
20TP63_19390658_ChIP-ChIP_HaCaT_Human2.56655514
21TCF3_18692474_ChIP-Seq_MEFs_Mouse2.35929940
22TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.35135772
23TCF3_18692474_ChIP-Seq_MESCs_Mouse2.33398548
24SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.29491485
25E2F4_17652178_ChIP-ChIP_JURKAT_Human2.25291702
26* MYC_18555785_ChIP-Seq_MESCs_Mouse2.22244220
27TP53_20018659_ChIP-ChIP_R1E_Mouse2.11078904
28DNAJC2_21179169_ChIP-ChIP_NT2_Human2.08794876
29TP53_16413492_ChIP-PET_HCT116_Human2.04440850
30STAT3_1855785_ChIP-Seq_MESCs_Mouse2.03885953
31NR0B1_18358816_ChIP-ChIP_MESCs_Mouse2.03579271
32EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.03205517
33NANOG_18358816_ChIP-ChIP_MESCs_Mouse2.00986174
34ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.96231671
35PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.94687987
36MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.93260396
37* MYC_19079543_ChIP-ChIP_MESCs_Mouse1.90680273
38NANOG_18555785_ChIP-Seq_MESCs_Mouse1.89909605
39FOXM1_23109430_ChIP-Seq_U2OS_Human1.89465640
40KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.88912310
41JARID2_20075857_ChIP-Seq_MESCs_Mouse1.87565388
42* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.87543345
43SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.87395837
44RARG_19884340_ChIP-ChIP_MEFs_Mouse1.85030285
45EZH2_27304074_Chip-Seq_ESCs_Mouse1.84863403
46POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.83747657
47* E2F1_20622854_ChIP-Seq_HELA_Human1.81962586
48NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.81927253
49* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.79849607
50* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.71846934
51YY1_21170310_ChIP-Seq_MESCs_Mouse1.71487706
52ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.70700795
53UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.69724497
54CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.68535805
55DROSHA_22980978_ChIP-Seq_HELA_Human1.68181091
56THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.67124407
57* SA1_27219007_Chip-Seq_Bcells_Human1.66617250
58* ELF1_20517297_ChIP-Seq_JURKAT_Human1.66211394
59* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.65931477
60KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.64956328
61IRF1_19129219_ChIP-ChIP_H3396_Human1.63247303
62POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.63197079
63POU5F1_16518401_ChIP-PET_MESCs_Mouse1.61846868
64* PHF8_20622854_ChIP-Seq_HELA_Human1.59940470
65CTCF_27219007_Chip-Seq_Bcells_Human1.59168220
66FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.53660059
67HIF1A_21447827_ChIP-Seq_MCF-7_Human1.52916639
68* MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.51265202
69* CREB1_15753290_ChIP-ChIP_HEK293T_Human1.50308434
70NANOG_18692474_ChIP-Seq_MEFs_Mouse1.47547349
71POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.44732143
72TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.43020541
73VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.43003223
74LXR_22292898_ChIP-Seq_THP-1_Human1.42508635
75OCT4_18692474_ChIP-Seq_MEFs_Mouse1.42465707
76JARID2_20064375_ChIP-Seq_MESCs_Mouse1.42275660
77GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.40976903
78PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.40177735
79NANOG_18692474_ChIP-Seq_MESCs_Mouse1.39863843
80SOX2_18555785_ChIP-Seq_MESCs_Mouse1.39751950
81EST1_17652178_ChIP-ChIP_JURKAT_Human1.38473386
82MTF2_20144788_ChIP-Seq_MESCs_Mouse1.37849571
83* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.37325805
84SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.35846101
85RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.32982424
86ZFP281_18757296_ChIP-ChIP_E14_Mouse1.32485475
87SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.31338094
88* JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.30198433
89SOX2_18692474_ChIP-Seq_MEFs_Mouse1.30143353
90SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.29093079
91LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.29038993
92TP53_18474530_ChIP-ChIP_U2OS_Human1.28169154
93E2F1_17053090_ChIP-ChIP_MCF-7_Human1.27772081
94SOX2_18692474_ChIP-Seq_MESCs_Mouse1.27130718
95PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.24883775
96ELF1_17652178_ChIP-ChIP_JURKAT_Human1.24133156
97CTCF_20526341_ChIP-Seq_ESCs_Human1.22996930
98SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.21987887
99TRIM28_21343339_ChIP-Seq_HEK293_Human1.21451506
100E2F1_18555785_ChIP-Seq_MESCs_Mouse1.21366579
101NANOG_16518401_ChIP-PET_MESCs_Mouse1.20351555
102LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.20265548
103EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.19986672
104RXR_22158963_ChIP-Seq_LIVER_Mouse1.19816640
105EZH2_27294783_Chip-Seq_ESCs_Mouse1.19625354
106EED_16625203_ChIP-ChIP_MESCs_Mouse1.19081906
107SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.18755919
108MYC_22102868_ChIP-Seq_BL_Human1.17676531
109* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.17107681
110FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.16858025
111NANOG_21062744_ChIP-ChIP_HESCs_Human1.16415084
112GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.16038609
113ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.14203348
114OCT4_19829295_ChIP-Seq_ESCs_Human1.13840524
115* ETS1_20019798_ChIP-Seq_JURKAT_Human1.13740256
116ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.12840646
117SUZ12_27294783_Chip-Seq_ESCs_Mouse1.12155698
118TDRD3_21172665_ChIP-Seq_MCF-7_Human1.11989474
119STAT1_20625510_ChIP-Seq_HELA_Human1.11863438
120RNF2_18974828_ChIP-Seq_MESCs_Mouse1.11662030
121EZH2_18974828_ChIP-Seq_MESCs_Mouse1.11662030
122* BCOR_27268052_Chip-Seq_Bcells_Human1.10366917
123SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.09019575
124CTCF_26484167_Chip-Seq_Bcells_Mouse1.08458882
125ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.07608047
126KLF4_18555785_ChIP-Seq_MESCs_Mouse1.06141194
127* TP63_22573176_ChIP-Seq_HFKS_Human1.04952782
128NANOG_16153702_ChIP-ChIP_HESCs_Human1.04191999
129RAD21_21589869_ChIP-Seq_MESCs_Mouse1.03949947
130ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.03313432
131GATA1_19941827_ChIP-Seq_MEL_Mouse1.02806016
132ZFP281_27345836_Chip-Seq_ESCs_Mouse1.02597698
133RING1B_27294783_Chip-Seq_ESCs_Mouse1.00850520
134SMC3_22415368_ChIP-Seq_MEFs_Mouse1.00486278
135RAC3_21632823_ChIP-Seq_H3396_Human1.00354246
136IKZF1_21737484_ChIP-ChIP_HCT116_Human0.99867071
137NOTCH1_21737748_ChIP-Seq_TLL_Human0.99595586
138PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.99392599
139* NANOG_20526341_ChIP-Seq_ESCs_Human0.98540989
140XRN2_22483619_ChIP-Seq_HELA_Human0.98254575
141SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.98203608
142HTT_18923047_ChIP-ChIP_STHdh_Human0.96342617
143FOXP3_21729870_ChIP-Seq_TREG_Human0.95980167
144TP53_22127205_ChIP-Seq_IMR90_Human0.95123449
145SOX11_22085726_ChIP-Seq_ESNs_Mouse0.94266913
146CSB_26484114_Chip-Seq_FIBROBLAST_Human0.94261802
147GABP_17652178_ChIP-ChIP_JURKAT_Human0.93996796
148SA1_27219007_Chip-Seq_ERYTHROID_Human0.93554295
149BCL6_27268052_Chip-Seq_Bcells_Human0.92860236
150NELFA_20434984_ChIP-Seq_ESCs_Mouse0.91605059
151* KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.91001004
152FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.89698207
153GATA3_21867929_ChIP-Seq_CD8_Mouse0.89492169
154MYCN_18555785_ChIP-Seq_MESCs_Mouse0.89458913
155SRY_22984422_ChIP-ChIP_TESTIS_Rat0.89340862
156CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.89316693
157KAP1_27257070_Chip-Seq_ESCs_Mouse0.88879145
158* GABP_19822575_ChIP-Seq_HepG2_Human0.87371829
159KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.87112382
160SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.86072563
161TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.85981320
162SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.85804565
163ESR1_15608294_ChIP-ChIP_MCF-7_Human0.85089338
164AR_21909140_ChIP-Seq_LNCAP_Human0.84999945
165* YY1_22570637_ChIP-Seq_MALME-3M_Human0.84983225
166KDM5A_27292631_Chip-Seq_BREAST_Human0.84198237
167POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.83400391
168MYB_26560356_Chip-Seq_TH2_Human0.83369001
169* CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.83098405
170KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.82522244
171THAP11_20581084_ChIP-Seq_MESCs_Mouse0.82374131
172TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.81531154
173SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.81505336
174RXR_22108803_ChIP-Seq_LS180_Human0.81332077
175NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.81272046
176CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.80690484
177* NCOR1_26117541_ChIP-Seq_K562_Human0.80505938
178* ZFX_18555785_ChIP-Seq_MESCs_Mouse0.80273855
179SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.80233043
180HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.79738510
181SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78916403
182CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.78827495
183RARA_24833708_ChIP-Seq_LIVER_Mouse0.78736661
184Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.78710002
185* SMC4_20622854_ChIP-Seq_HELA_Human0.78626918
186RNF2_27304074_Chip-Seq_ESCs_Mouse0.78487117
187PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.75371576
188CTCF_21964334_Chip-Seq_Bcells_Human0.74423091
189PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.73981159
190P68_20966046_ChIP-Seq_HELA_Human0.73948343
191RACK7_27058665_Chip-Seq_MCF-7_Human0.73578390
192TTF2_22483619_ChIP-Seq_HELA_Human0.73267111

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003690_abnormal_glial_cell8.35515586
2MP0002876_abnormal_thyroid_physiology5.48806010
3MP0004264_abnormal_extraembryonic_tissu4.59088353
4MP0003011_delayed_dark_adaptation4.37875968
5MP0002254_reproductive_system_inflammat4.28845782
6MP0006292_abnormal_olfactory_placode3.99391640
7MP0009780_abnormal_chondrocyte_physiolo3.60519622
8MP0003300_gastrointestinal_ulcer3.43805680
9MP0003890_abnormal_embryonic-extraembry3.39183957
10MP0004957_abnormal_blastocyst_morpholog3.30512190
11MP0004858_abnormal_nervous_system3.15507983
12MP0005499_abnormal_olfactory_system3.12986329
13MP0005394_taste/olfaction_phenotype3.12986329
14MP0003122_maternal_imprinting3.08382401
15MP0005075_abnormal_melanosome_morpholog2.98367153
16MP0002332_abnormal_exercise_endurance2.97141701
17MP0008057_abnormal_DNA_replication2.85055076
18MP0006035_abnormal_mitochondrial_morpho2.75875515
19MP0003075_altered_response_to2.74720671
20MP0002653_abnormal_ependyma_morphology2.55273040
21MP0003705_abnormal_hypodermis_morpholog2.54682211
22MP0000604_amyloidosis2.54227433
23MP0000013_abnormal_adipose_tissue2.51004653
24MP0005164_abnormal_response_to2.43943853
25MP0005257_abnormal_intraocular_pressure2.26368279
26MP0010352_gastrointestinal_tract_polyps2.26143229
27MP0003121_genomic_imprinting2.25936371
28MP0000678_abnormal_parathyroid_gland2.25163752
29MP0004859_abnormal_synaptic_plasticity2.17842120
30MP0003123_paternal_imprinting2.15075762
31MP0009384_cardiac_valve_regurgitation2.08843980
32MP0001672_abnormal_embryogenesis/_devel2.00372922
33MP0005380_embryogenesis_phenotype2.00372922
34MP0009333_abnormal_splenocyte_physiolog1.98402451
35MP0002088_abnormal_embryonic_growth/wei1.86593537
36MP0004130_abnormal_muscle_cell1.86462995
37MP0003984_embryonic_growth_retardation1.86205118
38MP0005165_increased_susceptibility_to1.82785451
39MP0002127_abnormal_cardiovascular_syste1.80942070
40MP0003448_altered_tumor_morphology1.75110877
41MP0008961_abnormal_basal_metabolism1.73277479
42MP0003879_abnormal_hair_cell1.71216086
43MP0005595_abnormal_vascular_smooth1.69799302
44MP0003938_abnormal_ear_development1.68943831
45MP0003183_abnormal_peptide_metabolism1.66106564
46MP0003077_abnormal_cell_cycle1.61088382
47MP0005620_abnormal_muscle_contractility1.59129804
48MP0000579_abnormal_nail_morphology1.57730083
49MP0000350_abnormal_cell_proliferation1.54834116
50MP0003111_abnormal_nucleus_morphology1.54692012
51MP0010030_abnormal_orbit_morphology1.54051453
52MP0005266_abnormal_metabolism1.53643298
53MP0008875_abnormal_xenobiotic_pharmacok1.49203400
54MP0001849_ear_inflammation1.47220653
55MP0004043_abnormal_pH_regulation1.44576927
56MP0003279_aneurysm1.43916361
57MP0005646_abnormal_pituitary_gland1.43163451
58MP0001293_anophthalmia1.36230573
59MP0002086_abnormal_extraembryonic_tissu1.35508068
60MP0003119_abnormal_digestive_system1.34266811
61MP0002085_abnormal_embryonic_tissue1.33852477
62MP0003693_abnormal_embryo_hatching1.33413058
63MP0008438_abnormal_cutaneous_collagen1.33050542
64MP0002972_abnormal_cardiac_muscle1.28861015
65MP0005332_abnormal_amino_acid1.27826739
66MP0003283_abnormal_digestive_organ1.26071784
67MP0003221_abnormal_cardiomyocyte_apopto1.26060639
68MP0008789_abnormal_olfactory_epithelium1.24804574
69MP0000049_abnormal_middle_ear1.23580592
70MP0002837_dystrophic_cardiac_calcinosis1.23280343
71MP0000762_abnormal_tongue_morphology1.23078560
72MP0001765_abnormal_ion_homeostasis1.22952562
73MP0002896_abnormal_bone_mineralization1.22275158
74MP0002557_abnormal_social/conspecific_i1.21718118
75MP0001730_embryonic_growth_arrest1.21262136
76MP0002084_abnormal_developmental_patter1.20963679
77MP0005671_abnormal_response_to1.20727862
78MP0000750_abnormal_muscle_regeneration1.20111674
79MP0010094_abnormal_chromosome_stability1.19859467
80MP0005166_decreased_susceptibility_to1.19036520
81MP0004133_heterotaxia1.18898206
82MP0002269_muscular_atrophy1.18830627
83MP0001299_abnormal_eye_distance/1.18674113
84MP0002932_abnormal_joint_morphology1.17929269
85MP0005330_cardiomyopathy1.17757945
86MP0004233_abnormal_muscle_weight1.16901592
87MP0002933_joint_inflammation1.16862621
88MP0009785_altered_susceptibility_to1.15939805
89MP0008932_abnormal_embryonic_tissue1.14472239
90MP0002277_abnormal_respiratory_mucosa1.12350042
91MP0002092_abnormal_eye_morphology1.11489026
92MP0000749_muscle_degeneration1.10796918
93MP0003315_abnormal_perineum_morphology1.10660405
94MP0004883_abnormal_blood_vessel1.10488798
95MP0002796_impaired_skin_barrier1.10200459
96MP0002970_abnormal_white_adipose1.05472818
97MP0000358_abnormal_cell_content/1.04863809
98MP0004197_abnormal_fetal_growth/weight/1.04232520
99MP0001697_abnormal_embryo_size1.03181285
100MP0006036_abnormal_mitochondrial_physio1.02454701
101MP0005197_abnormal_uvea_morphology1.01618337
102MP0002114_abnormal_axial_skeleton1.01521659
103MP0002063_abnormal_learning/memory/cond1.01343429
104MP0002233_abnormal_nose_morphology1.01086075
105MP0002080_prenatal_lethality1.00486500
106MP0004019_abnormal_vitamin_homeostasis0.99737046
107MP0002572_abnormal_emotion/affect_behav0.98421456
108MP0005025_abnormal_response_to0.98351902
109MP0001501_abnormal_sleep_pattern0.98249599
110MP0000343_altered_response_to0.97823236
111MP0003137_abnormal_impulse_conducting0.96405133
112MP0002396_abnormal_hematopoietic_system0.95613915
113MP0005503_abnormal_tendon_morphology0.94904526
114MP0000313_abnormal_cell_death0.93613100
115MP0000428_abnormal_craniofacial_morphol0.92796795
116MP0005584_abnormal_enzyme/coenzyme_acti0.92795793
117MP0000751_myopathy0.92411064
118MP0005275_abnormal_skin_tensile0.91651849
119MP0003567_abnormal_fetal_cardiomyocyte0.90892890
120MP0008770_decreased_survivor_rate0.90811578
121MP0001666_abnormal_nutrient_absorption0.90033933
122MP0002009_preneoplasia0.88850006
123MP0003755_abnormal_palate_morphology0.86013753
124MP0000003_abnormal_adipose_tissue0.85929013
125MP0003935_abnormal_craniofacial_develop0.84995586
126MP0003806_abnormal_nucleotide_metabolis0.84584987
127MP0000432_abnormal_head_morphology0.83427497
128MP0003786_premature_aging0.82930555
129MP0000230_abnormal_systemic_arterial0.82856190
130MP0008775_abnormal_heart_ventricle0.82646509
131MP0001958_emphysema0.82374835
132MP0001348_abnormal_lacrimal_gland0.80727556
133MP0008007_abnormal_cellular_replicative0.80551410
134MP0003638_abnormal_response/metabolism_0.80497985
135MP0001905_abnormal_dopamine_level0.80446458
136MP0005410_abnormal_fertilization0.80394655
137MP0000920_abnormal_myelination0.79849356
138MP0003787_abnormal_imprinting0.78413108
139MP0006072_abnormal_retinal_apoptosis0.77754657
140MP0005636_abnormal_mineral_homeostasis0.77677796
141MP0005385_cardiovascular_system_phenoty0.77280692
142MP0001544_abnormal_cardiovascular_syste0.77280692
143MP0002106_abnormal_muscle_physiology0.76506511
144MP0000490_abnormal_crypts_of0.75110613
145MP0006082_CNS_inflammation0.74870325
146MP0001881_abnormal_mammary_gland0.74186604
147MP0002452_abnormal_antigen_presenting0.73690828
148MP0009765_abnormal_xenobiotic_induced0.72978621
149MP0002160_abnormal_reproductive_system0.72568376
150MP0002751_abnormal_autonomic_nervous0.71422555
151MP0005367_renal/urinary_system_phenotyp0.70744171
152MP0000516_abnormal_urinary_system0.70744171
153MP0001542_abnormal_bone_strength0.70437187
154MP0002925_abnormal_cardiovascular_devel0.70180963
155MP0005508_abnormal_skeleton_morphology0.69839718
156MP0005023_abnormal_wound_healing0.69425460
157MP0005423_abnormal_somatic_nervous0.68525717
158MP0002249_abnormal_larynx_morphology0.68105635
159MP0009703_decreased_birth_body0.67098466
160MP0002419_abnormal_innate_immunity0.66544972
161MP0005384_cellular_phenotype0.66114637
162MP0005369_muscle_phenotype0.64832181
163MP0002909_abnormal_adrenal_gland0.64487580
164MP0005319_abnormal_enzyme/_coenzyme0.63890570
165MP0001756_abnormal_urination0.63625617
166MP0002136_abnormal_kidney_physiology0.63613705
167MP0003436_decreased_susceptibility_to0.62699309
168MP0005248_abnormal_Harderian_gland0.62429046
169MP0001800_abnormal_humoral_immune0.62380725
170MP0003635_abnormal_synaptic_transmissio0.62073606
171MP0005391_vision/eye_phenotype0.61898811
172MP0004811_abnormal_neuron_physiology0.61645885
173MP0000681_abnormal_thyroid_gland0.60921206
174MP0003633_abnormal_nervous_system0.59317556
175MP0002116_abnormal_craniofacial_bone0.58874616
176MP0001533_abnormal_skeleton_physiology0.58529540
177MP0008872_abnormal_physiological_respon0.58508269
178MP0002132_abnormal_respiratory_system0.57851596
179MP0002877_abnormal_melanocyte_morpholog0.55683051
180MP0001943_abnormal_respiration0.54994043
181MP0005623_abnormal_meninges_morphology0.54827908
182MP0000249_abnormal_blood_vessel0.54564299
183MP0000759_abnormal_skeletal_muscle0.54445821
184MP0005376_homeostasis/metabolism_phenot0.53991396
185MP0001145_abnormal_male_reproductive0.53440085
186MP0003186_abnormal_redox_activity0.51887600
187MP0002111_abnormal_tail_morphology0.51354880

Predicted human phenotypes

RankGene SetZ-score
1Global brain atrophy (HP:0002283)8.76219286
2Bilateral microphthalmos (HP:0007633)7.28847724
3Lower limb hyperreflexia (HP:0002395)6.88702457
4Cortical visual impairment (HP:0100704)6.10293614
5Rectal prolapse (HP:0002035)6.02106257
6Gastrointestinal stroma tumor (HP:0100723)5.75276488
7Hypochromic microcytic anemia (HP:0004840)5.64440308
8Multiple enchondromatosis (HP:0005701)5.56808642
9Hepatoblastoma (HP:0002884)5.51339249
10Status epilepticus (HP:0002133)5.30620069
11Abnormality of the lower motor neuron (HP:0002366)5.26901076
12Hyperthyroidism (HP:0000836)5.18009686
13Thin bony cortex (HP:0002753)5.03077975
14Elevated circulating parathyroid hormone (PTH) level (HP:0003165)4.84127167
15Absent speech (HP:0001344)4.69030485
16Ependymoma (HP:0002888)4.48583828
17Rib fusion (HP:0000902)4.43656263
18Hemiplegia (HP:0002301)4.37324436
19Abnormality of the columella (HP:0009929)4.31609583
20Lymphangioma (HP:0100764)4.11081373
21Wide cranial sutures (HP:0010537)3.94544183
22Emphysema (HP:0002097)3.94459335
23Delayed epiphyseal ossification (HP:0002663)3.87131806
24Neoplasm of striated muscle (HP:0009728)3.77851767
25Symptomatic seizures (HP:0011145)3.76445352
26Rhabdomyosarcoma (HP:0002859)3.74513123
27Testicular atrophy (HP:0000029)3.74335717
28Enlarged epiphyses (HP:0010580)3.66714140
29Ragged-red muscle fibers (HP:0003200)3.59932397
30Abnormality of macular pigmentation (HP:0008002)3.55639675
31Nephroblastoma (Wilms tumor) (HP:0002667)3.52625995
32Abnormality of the costochondral junction (HP:0000919)3.50526883
33Cutaneous finger syndactyly (HP:0010554)3.46481532
34Palpebral edema (HP:0100540)3.46292914
35Protuberant abdomen (HP:0001538)3.46278585
36Hyperinsulinemic hypoglycemia (HP:0000825)3.44967050
37Generalized tonic-clonic seizures (HP:0002069)3.44182317
38Aplasia/Hypoplasia of the fovea (HP:0008060)3.39587366
39Hypoplasia of the fovea (HP:0007750)3.39587366
40Type I diabetes mellitus (HP:0100651)3.32782793
41Chromosomal breakage induced by crosslinking agents (HP:0003221)3.31765256
42Embryonal renal neoplasm (HP:0011794)3.27504710
43Fused cervical vertebrae (HP:0002949)3.22574900
44Trismus (HP:0000211)3.19954865
45Delayed closure of the anterior fontanelle (HP:0001476)3.19898869
46Widely patent fontanelles and sutures (HP:0004492)3.12843889
47Atelectasis (HP:0100750)3.12092222
48Abnormality of the salivary glands (HP:0010286)3.11947625
49Amyotrophic lateral sclerosis (HP:0007354)3.09779432
50Irritability (HP:0000737)3.08970697
51Astrocytoma (HP:0009592)3.07664767
52Abnormality of the astrocytes (HP:0100707)3.07664767
53Progressive muscle weakness (HP:0003323)3.02393684
54Abnormal cartilage morphology (HP:0002763)3.01022669
55Breast aplasia (HP:0100783)2.99949999
56Papilledema (HP:0001085)2.99696809
57Protruding ear (HP:0000411)2.96046043
58Hypocalcemia (HP:0002901)2.94567960
59Horizontal nystagmus (HP:0000666)2.94244109
60Cutaneous syndactyly (HP:0012725)2.94225837
61Aplasia/hypoplasia of the humerus (HP:0006507)2.91651299
62Rectovaginal fistula (HP:0000143)2.90642290
63Rectal fistula (HP:0100590)2.90642290
64Peritonitis (HP:0002586)2.86919872
65Osteolytic defects of the hand bones (HP:0009699)2.85205619
66Osteolytic defects of the phalanges of the hand (HP:0009771)2.85205619
67Short humerus (HP:0005792)2.82750986
68Lymphopenia (HP:0001888)2.81270542
69Chromsome breakage (HP:0040012)2.80249892
70Bifid tongue (HP:0010297)2.79423450
71Reduced antithrombin III activity (HP:0001976)2.78238251
72Aplasia/Hypoplasia of the breasts (HP:0010311)2.77040740
73Short nail (HP:0001799)2.75250818
74Shawl scrotum (HP:0000049)2.74372939
75Abnormal lung lobation (HP:0002101)2.74369033
76Homocystinuria (HP:0002156)2.73910536
77Abnormality of homocysteine metabolism (HP:0010919)2.73910536
78Nephritis (HP:0000123)2.73882577
79Cholelithiasis (HP:0001081)2.67725770
80Partial duplication of thumb phalanx (HP:0009944)2.64700210
81Abnormality of calcium-phosphate metabolism (HP:0100530)2.64353582
82Restrictive lung disease (HP:0002091)2.64053644
83Hyperventilation (HP:0002883)2.62916700
84Tetraplegia (HP:0002445)2.61025935
85Rough bone trabeculation (HP:0100670)2.59953935
86Abnormality of the fovea (HP:0000493)2.59443336
87Impulsivity (HP:0100710)2.57000505
88Vaginal fistula (HP:0004320)2.56326853
89Thyroid-stimulating hormone excess (HP:0002925)2.55842162
90Amyloidosis (HP:0011034)2.54350390
91Hyperparathyroidism (HP:0000843)2.54058857
92Intestinal fistula (HP:0100819)2.52963092
93Increased connective tissue (HP:0009025)2.51100494
94Generalized hypotonia (HP:0001290)2.49016476
95Preauricular skin tag (HP:0000384)2.48469388
96Abnormal gallbladder morphology (HP:0012437)2.43775036
97Aplasia/Hypoplasia of the earlobes (HP:0009906)2.43071453
98Broad distal phalanx of finger (HP:0009836)2.41636501
99Periorbital edema (HP:0100539)2.41090586
100Meckel diverticulum (HP:0002245)2.38377534
101Tongue fasciculations (HP:0001308)2.37601499
102Medial flaring of the eyebrow (HP:0010747)2.37152771
103Anomalous pulmonary venous return (HP:0010772)2.36972338
104Epileptic encephalopathy (HP:0200134)2.36593656
105Type 1 muscle fiber predominance (HP:0003803)2.36432128
106Periauricular skin pits (HP:0100277)2.34124576
107Preauricular pit (HP:0004467)2.34124576
108Abnormality of cells of the lymphoid lineage (HP:0012140)2.33888884
109Facial edema (HP:0000282)2.33538486
110Supernumerary spleens (HP:0009799)2.33359193
111Long palpebral fissure (HP:0000637)2.33272539
112Difficulty running (HP:0009046)2.32672319
113Glioma (HP:0009733)2.31509173
114Hypochromic anemia (HP:0001931)2.30440745
115Partial duplication of the phalanx of hand (HP:0009999)2.28466730
116Premature loss of primary teeth (HP:0006323)2.27443606
117Atrophy/Degeneration involving motor neurons (HP:0007373)2.27418270
118Gout (HP:0001997)2.27398696
119Premature ovarian failure (HP:0008209)2.26998925
120Muscle fibrillation (HP:0010546)2.24526794
121Malignant neoplasm of the central nervous system (HP:0100836)2.23618658
122Abnormality of the antihelix (HP:0009738)2.22967026
123Abnormality of the ileum (HP:0001549)2.21891461
124Hand muscle atrophy (HP:0009130)2.21433668
125Microretrognathia (HP:0000308)2.20889502
126Bone cyst (HP:0012062)2.20202791
127Aplasia/Hypoplasia of the macula (HP:0008059)2.19119834
128Elevated erythrocyte sedimentation rate (HP:0003565)2.16569846
129Abnormality of the musculature of the hand (HP:0001421)2.16496447
130Villous atrophy (HP:0011473)2.16466304
131Abnormality of small intestinal villus morphology (HP:0011472)2.16466304
132Nasolacrimal duct obstruction (HP:0000579)2.15827565
133Aplasia/Hypoplasia of the sternum (HP:0006714)2.15201979
134Aplasia/Hypoplasia of the uvula (HP:0010293)2.15013776
135Glossoptosis (HP:0000162)2.14683968
136Skin tags (HP:0010609)2.14662190
137Facial shape deformation (HP:0011334)2.13639580
138Potter facies (HP:0002009)2.13639580
139Neoplasm of the heart (HP:0100544)2.13270565
140Microvesicular hepatic steatosis (HP:0001414)2.12592873
141Abnormality of the intrinsic pathway (HP:0010989)2.12238677
142Angiofibromas (HP:0010615)2.12024128
143Adenoma sebaceum (HP:0009720)2.12024128
144Abnormality of dentin (HP:0010299)2.10655381
145Hematochezia (HP:0002573)2.10479158
146Choreoathetosis (HP:0001266)2.10290833
147Metaphyseal irregularity (HP:0003025)2.09821276
148Tibial bowing (HP:0002982)2.09552342
149Abnormality of liposaccharide metabolism (HP:0010968)2.09504339
150Abnormality of glycosphingolipid metabolism (HP:0004343)2.09504339
151Abnormality of glycolipid metabolism (HP:0010969)2.09504339
152Abnormality of chromosome segregation (HP:0002916)2.09436962
153Resting tremor (HP:0002322)2.09199656
154Increased serum pyruvate (HP:0003542)2.09187519
155Abnormality of glycolysis (HP:0004366)2.09187519
156Malnutrition (HP:0004395)2.08222854
157Type I transferrin isoform profile (HP:0003642)2.08163837
158Progressive external ophthalmoplegia (HP:0000590)2.06858363
159Achilles tendon contracture (HP:0001771)2.04069099
160Upper motor neuron abnormality (HP:0002127)2.03702880
161Sensory axonal neuropathy (HP:0003390)2.03699628
162Short 5th finger (HP:0009237)2.03658524
163Abnormality of the tricuspid valve (HP:0001702)2.03218812
164Aplasia/Hypoplasia affecting the retina (HP:0008061)2.01152914
165Femoral bowing (HP:0002980)2.00503134
166Supernumerary nipples (HP:0002558)2.00045826
167Skin nodule (HP:0200036)2.00023873
168Fasciculations (HP:0002380)1.99090473
169Abnormal albumin level (HP:0012116)1.98832452
170Hypoalbuminemia (HP:0003073)1.98832452
171Abnormal trabecular bone morphology (HP:0100671)1.98584916
172Abnormality of the phalanges of the hallux (HP:0010057)1.98315079
173Hypophosphatemia (HP:0002148)1.97847157
1743-Methylglutaconic aciduria (HP:0003535)1.97234406
175Delayed gross motor development (HP:0002194)1.97222831
176Facial cleft (HP:0002006)1.97075868
177Abnormality of the pulmonary veins (HP:0011718)1.96594369
178Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.96557837
179Abnormality of the pubic bones (HP:0003172)1.94812405
180Protrusio acetabuli (HP:0003179)1.84395182
181Orchitis (HP:0100796)1.83112676
182Wormian bones (HP:0002645)1.81295638
183Coronal craniosynostosis (HP:0004440)1.81138928
184Premature rupture of membranes (HP:0001788)1.80534103
185Osteoporosis (HP:0000939)1.80487335
186Muscle stiffness (HP:0003552)1.78783303
187Purpura (HP:0000979)1.76223956
188Vasculitis (HP:0002633)1.76133335
189Athetosis (HP:0002305)1.73791587
190Joint stiffness (HP:0001387)1.72743559
1912-3 toe syndactyly (HP:0004691)1.70887253
192Abdominal distention (HP:0003270)1.70877971
193Agitation (HP:0000713)1.70264838
194Muscle fiber inclusion bodies (HP:0100299)1.70191664
195Anosmia (HP:0000458)1.70148989
196Flattened epiphyses (HP:0003071)1.67831850
197Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.65605779

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK127.83655564
2VRK27.12973055
3PRKD26.38509992
4NUAK15.62750516
5GRK55.25456154
6ERN14.83145617
7PRKCH4.23201682
8MAP3K133.87242256
9GRK63.84819085
10TESK13.63629033
11TTK2.93547832
12ADRBK22.79691645
13GRK12.71539229
14TYRO32.57285660
15LIMK12.54052577
16CSF1R2.53076920
17MAPK72.34987867
18TGFBR22.28335916
19GRK72.23608403
20MATK2.15557481
21MOS2.07968156
22PIK3CA2.04896873
23EPHA21.99744748
24AKT31.98028166
25STK101.94043855
26WNK11.87986564
27UHMK11.70397180
28VRK11.61514856
29CDK71.60966855
30NTRK11.54696064
31PAK41.48985746
32PRKG21.44262209
33TTN1.43652596
34BUB11.42912660
35PRKD11.39225612
36MAP2K41.34260638
37CAMK41.33105485
38PLK11.32157510
39CHEK21.29485706
40BRAF1.25188878
41ROCK21.20458776
42NEK11.19577057
43WEE11.18211595
44NEK61.16607465
45LATS21.14117575
46MAP3K141.10113471
47MARK21.04395447
48TYK21.04129420
49PDK31.03264923
50PDK41.03264923
51PRKCE1.02862173
52ADRBK11.02203896
53HIPK20.97042755
54PRKAA20.89382393
55MAP3K90.86450217
56MAP2K60.82996526
57OBSCN0.82025839
58LMTK20.78870492
59ROCK10.78748936
60CHEK10.77114305
61AKT20.77094628
62RPS6KA20.75134625
63ALK0.74402209
64FGFR30.73795692
65NEK20.73694193
66PHKG20.72458392
67PHKG10.72458392
68MUSK0.70353619
69AURKA0.68366922
70RPS6KB20.67815743
71CDC70.66466499
72PDPK10.66058350
73MAP3K100.65077406
74EPHA40.63105773
75MAP2K20.62204263
76MAPK120.62029255
77PDK20.61255817
78PRKCI0.60632860
79STK380.59939655
80BCKDK0.58856005
81MAPKAPK30.58164467
82MTOR0.55993707
83PIM20.54019383
84PDK10.50452629
85PAK10.49375207
86CDK20.49307864
87IRAK30.48200224
88PTK20.48167303
89PRKCZ0.47634187
90MAP3K70.47589465
91FGR0.45336725
92MYLK0.43023566
93EIF2AK20.42643548
94TAOK10.42366437
95ERBB40.42357051
96NME20.41687103
97MST1R0.40511679
98AURKB0.39845185
99CDK40.39498371
100TESK20.39476485
101TAOK20.38811883
102CSNK1E0.37969040
103MAP3K30.36213602
104CAMK2G0.34313635
105DAPK30.33845416
106STK40.30971825
107RPS6KC10.30931052
108RPS6KL10.30931052
109STK38L0.30917382
110CSK0.30829619
111ARAF0.30104785
112PDGFRA0.29027429
113CDK150.28942419
114PRKD30.27623207
115ATM0.27362722
116CSNK1G20.26855527
117PRKCA0.26729371
118DYRK30.26408862
119CDK11A0.26201360
120PRKCG0.25823408
121IGF1R0.25714551
122CDK180.25637139
123MAPK100.25464543
124BRSK10.25343883
125ABL20.24088807
126CDK10.23801943
127RPS6KB10.23121791
128BRSK20.23094586
129PRKCD0.23063304
130TSSK60.22492345
131MAP4K20.21885470
132RPS6KA60.21101265
133IKBKB0.21032664
134NME10.20474128
135CDK80.20244352
136CDK140.19552786
137SRPK10.18609800
138PAK30.18379799
139PRKDC0.18176937
140RPS6KA30.17513219
141GSK3B0.17048280
142PRKAA10.16670658
143MAP3K80.16419849
144PRKCB0.15849615
145PRKACG0.15568397
146JAK10.15501652
147PRKACB0.14413189
148DDR20.14321374
149MAPK10.14272153
150PIK3CG0.14209629
151PINK10.14197676
152RIPK10.14094036
153SGK20.13907644
154PRPF4B0.13227983
155MAPK30.12801819
156MAPK140.12331414
157MAPK80.12214546
158INSRR0.11855426
159PAK60.11605874
160PRKACA0.11196061
161ACVR1B0.11132645
162CAMK2B0.11049570
163TRIB30.10461078
164MAPKAPK20.10436409
165CAMK2A0.10400127
166ERBB20.10141246
167PRKG10.09617475

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007506.35646518
2Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006035.44384302
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030084.39546377
4Fructose and mannose metabolism_Homo sapiens_hsa000514.28787878
5SNARE interactions in vesicular transport_Homo sapiens_hsa041302.93111937
6Galactose metabolism_Homo sapiens_hsa000522.91274111
7Prion diseases_Homo sapiens_hsa050202.60953258
8RNA transport_Homo sapiens_hsa030132.27787330
9Arachidonic acid metabolism_Homo sapiens_hsa005902.25983487
10Type II diabetes mellitus_Homo sapiens_hsa049302.20798280
11Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.15783149
12Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.09124154
13Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.99324555
14Arginine and proline metabolism_Homo sapiens_hsa003301.82658161
15Aldosterone synthesis and secretion_Homo sapiens_hsa049251.76242275
16Linoleic acid metabolism_Homo sapiens_hsa005911.74834901
17Pentose and glucuronate interconversions_Homo sapiens_hsa000401.71078190
18Thyroid cancer_Homo sapiens_hsa052161.70278553
19DNA replication_Homo sapiens_hsa030301.68334464
20Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.64058818
212-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.63155509
22alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.62874798
23Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.62095300
24Synaptic vesicle cycle_Homo sapiens_hsa047211.61809986
25Renin secretion_Homo sapiens_hsa049241.59581291
26Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.57474139
27Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.56915558
28Tyrosine metabolism_Homo sapiens_hsa003501.53460697
29Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.53186576
30Mismatch repair_Homo sapiens_hsa034301.49488962
31mTOR signaling pathway_Homo sapiens_hsa041501.48317909
32Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.41259810
33Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.38076389
34Carbon metabolism_Homo sapiens_hsa012001.36093973
35Cell cycle_Homo sapiens_hsa041101.35673008
36One carbon pool by folate_Homo sapiens_hsa006701.35320834
37Pentose phosphate pathway_Homo sapiens_hsa000301.31909162
38Folate biosynthesis_Homo sapiens_hsa007901.31602321
39Biosynthesis of amino acids_Homo sapiens_hsa012301.26321619
40Fanconi anemia pathway_Homo sapiens_hsa034601.22222159
41mRNA surveillance pathway_Homo sapiens_hsa030151.22156552
42Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.22047473
43Ribosome_Homo sapiens_hsa030101.19754479
44RNA polymerase_Homo sapiens_hsa030201.18697538
45GABAergic synapse_Homo sapiens_hsa047271.14464666
46Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.14123027
47Homologous recombination_Homo sapiens_hsa034401.10857330
48Mineral absorption_Homo sapiens_hsa049781.09581789
49RNA degradation_Homo sapiens_hsa030181.03532528
50Regulation of autophagy_Homo sapiens_hsa041401.03482545
51Other glycan degradation_Homo sapiens_hsa005111.01510757
52Adipocytokine signaling pathway_Homo sapiens_hsa049200.99718123
53Complement and coagulation cascades_Homo sapiens_hsa046100.98785059
54Spliceosome_Homo sapiens_hsa030400.98135580
55Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.94542301
56Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.92358643
57Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.92135090
58Cysteine and methionine metabolism_Homo sapiens_hsa002700.92130900
59Sulfur relay system_Homo sapiens_hsa041220.91970524
60Central carbon metabolism in cancer_Homo sapiens_hsa052300.91300181
61Insulin signaling pathway_Homo sapiens_hsa049100.88583592
62Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.87160012
63Long-term potentiation_Homo sapiens_hsa047200.85626392
64Base excision repair_Homo sapiens_hsa034100.84206553
65Malaria_Homo sapiens_hsa051440.83572820
66Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.83374844
67Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.81834177
68Rheumatoid arthritis_Homo sapiens_hsa053230.81157280
69Nicotine addiction_Homo sapiens_hsa050330.79182982
70Chemical carcinogenesis_Homo sapiens_hsa052040.77548508
71Proteasome_Homo sapiens_hsa030500.75869366
72Glycerophospholipid metabolism_Homo sapiens_hsa005640.74050501
73Dilated cardiomyopathy_Homo sapiens_hsa054140.73580301
74Chemokine signaling pathway_Homo sapiens_hsa040620.73545040
75PPAR signaling pathway_Homo sapiens_hsa033200.73488987
76Fatty acid degradation_Homo sapiens_hsa000710.72276750
77Glycosaminoglycan degradation_Homo sapiens_hsa005310.71843986
78p53 signaling pathway_Homo sapiens_hsa041150.70709268
79cAMP signaling pathway_Homo sapiens_hsa040240.70697989
80Pyrimidine metabolism_Homo sapiens_hsa002400.70503531
81ECM-receptor interaction_Homo sapiens_hsa045120.70337559
82Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.69592355
83Melanoma_Homo sapiens_hsa052180.69333972
84Inositol phosphate metabolism_Homo sapiens_hsa005620.69241533
85Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.67104714
86beta-Alanine metabolism_Homo sapiens_hsa004100.65813460
87Phenylalanine metabolism_Homo sapiens_hsa003600.65063494
88Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.64751769
89Steroid hormone biosynthesis_Homo sapiens_hsa001400.63348428
90Cyanoamino acid metabolism_Homo sapiens_hsa004600.62300336
91Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.61696499
92Basal transcription factors_Homo sapiens_hsa030220.61644095
93Bladder cancer_Homo sapiens_hsa052190.60797309
94Sphingolipid signaling pathway_Homo sapiens_hsa040710.58736775
95Toll-like receptor signaling pathway_Homo sapiens_hsa046200.58670276
96Selenocompound metabolism_Homo sapiens_hsa004500.58204174
97Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.57805653
98Circadian entrainment_Homo sapiens_hsa047130.57737866
99Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57600959
100Prolactin signaling pathway_Homo sapiens_hsa049170.56193536
101Phospholipase D signaling pathway_Homo sapiens_hsa040720.55625292
102Hedgehog signaling pathway_Homo sapiens_hsa043400.54587180
103Insulin resistance_Homo sapiens_hsa049310.54322707
104Serotonergic synapse_Homo sapiens_hsa047260.53580767
105Allograft rejection_Homo sapiens_hsa053300.51510026
106Ovarian steroidogenesis_Homo sapiens_hsa049130.51359279
107Ras signaling pathway_Homo sapiens_hsa040140.51328317
108Vibrio cholerae infection_Homo sapiens_hsa051100.51056399
109Type I diabetes mellitus_Homo sapiens_hsa049400.50882372
110Tryptophan metabolism_Homo sapiens_hsa003800.50689153
111Autoimmune thyroid disease_Homo sapiens_hsa053200.50559117
112Bile secretion_Homo sapiens_hsa049760.49741551
113Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.49727738
114Nucleotide excision repair_Homo sapiens_hsa034200.48852376
115Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.48564773
116Fatty acid metabolism_Homo sapiens_hsa012120.48450094
117Morphine addiction_Homo sapiens_hsa050320.48094334
118B cell receptor signaling pathway_Homo sapiens_hsa046620.45706167
119Hematopoietic cell lineage_Homo sapiens_hsa046400.44855219
120Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.44769924
121AMPK signaling pathway_Homo sapiens_hsa041520.43046406
122Basal cell carcinoma_Homo sapiens_hsa052170.42227205
123Metabolic pathways_Homo sapiens_hsa011000.42076480
124Hippo signaling pathway_Homo sapiens_hsa043900.42006539
125Oocyte meiosis_Homo sapiens_hsa041140.41905612
126Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.41904763
127Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.41635839
128Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.41612779
129Regulation of actin cytoskeleton_Homo sapiens_hsa048100.41314828
130Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.41146545
131Pancreatic secretion_Homo sapiens_hsa049720.39870114
132Apoptosis_Homo sapiens_hsa042100.39009854
133PI3K-Akt signaling pathway_Homo sapiens_hsa041510.39005560
134Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.38506459
135Pathways in cancer_Homo sapiens_hsa052000.38253115
136Salivary secretion_Homo sapiens_hsa049700.36339270
137Acute myeloid leukemia_Homo sapiens_hsa052210.36288779
138Graft-versus-host disease_Homo sapiens_hsa053320.34946919
139Pertussis_Homo sapiens_hsa051330.34853244
140Transcriptional misregulation in cancer_Homo sapiens_hsa052020.34577310
141Cardiac muscle contraction_Homo sapiens_hsa042600.32587274
142Choline metabolism in cancer_Homo sapiens_hsa052310.32386171
143Rap1 signaling pathway_Homo sapiens_hsa040150.32191078
144Insulin secretion_Homo sapiens_hsa049110.31146871
145Olfactory transduction_Homo sapiens_hsa047400.30300069
146Dopaminergic synapse_Homo sapiens_hsa047280.30020494
147MicroRNAs in cancer_Homo sapiens_hsa052060.29429518
148NOD-like receptor signaling pathway_Homo sapiens_hsa046210.28530137
149Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.28166745
150Glycerolipid metabolism_Homo sapiens_hsa005610.27687309
151Neurotrophin signaling pathway_Homo sapiens_hsa047220.27599643
152Gap junction_Homo sapiens_hsa045400.27207554
153Ether lipid metabolism_Homo sapiens_hsa005650.26897363
154Drug metabolism - other enzymes_Homo sapiens_hsa009830.26476985
155Non-small cell lung cancer_Homo sapiens_hsa052230.26014810
156RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.25935758
157Tight junction_Homo sapiens_hsa045300.25493320
158MAPK signaling pathway_Homo sapiens_hsa040100.25362100
159Glutamatergic synapse_Homo sapiens_hsa047240.24202813
160Taste transduction_Homo sapiens_hsa047420.23992650
161Amphetamine addiction_Homo sapiens_hsa050310.23897475
162Legionellosis_Homo sapiens_hsa051340.23855592
163Pyruvate metabolism_Homo sapiens_hsa006200.23833405
164Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.23506608
165Longevity regulating pathway - mammal_Homo sapiens_hsa042110.22550476
166Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.22283555
167Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.19260938
168Phosphatidylinositol signaling system_Homo sapiens_hsa040700.18999794
169Purine metabolism_Homo sapiens_hsa002300.17293306
170Glutathione metabolism_Homo sapiens_hsa004800.16052672
171Renin-angiotensin system_Homo sapiens_hsa046140.15791020
172Wnt signaling pathway_Homo sapiens_hsa043100.14321566
173Protein digestion and absorption_Homo sapiens_hsa049740.12021057

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