COPS6

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: The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proteasome assembly (GO:0043248)5.41666701
2mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.82518813
3negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.69988912
4maturation of SSU-rRNA (GO:0030490)4.50211460
5purine nucleobase biosynthetic process (GO:0009113)4.43463001
6positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.41379416
7formation of translation preinitiation complex (GO:0001731)4.38366901
8energy coupled proton transport, down electrochemical gradient (GO:0015985)4.33336715
9ATP synthesis coupled proton transport (GO:0015986)4.33336715
10regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.32613845
11anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:04.30104332
12nucleobase biosynthetic process (GO:0046112)4.29968162
13negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.27596204
14negative regulation of ligase activity (GO:0051352)4.27596204
15regulation of cellular amino acid metabolic process (GO:0006521)4.27492660
16oxidative phosphorylation (GO:0006119)4.22481804
17L-methionine biosynthetic process from methylthioadenosine (GO:0019509)4.21043331
18* cullin deneddylation (GO:0010388)4.18101488
19regulation of mitochondrial translation (GO:0070129)4.14270543
20DNA deamination (GO:0045006)4.13964452
21establishment of integrated proviral latency (GO:0075713)4.05193899
22* protein deneddylation (GO:0000338)4.03369127
23ribosomal small subunit assembly (GO:0000028)4.00217767
24positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.96095858
25DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.95264922
26spliceosomal snRNP assembly (GO:0000387)3.90370162
27L-methionine salvage (GO:0071267)3.88538624
28L-methionine biosynthetic process (GO:0071265)3.88538624
29amino acid salvage (GO:0043102)3.88538624
30intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.85596021
31signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.85596021
32signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.83082482
33signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.83082482
34signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.83082482
35signal transduction involved in DNA damage checkpoint (GO:0072422)3.79858031
36signal transduction involved in DNA integrity checkpoint (GO:0072401)3.79858031
37positive regulation of ligase activity (GO:0051351)3.78365244
38ribosomal large subunit biogenesis (GO:0042273)3.76490286
39signal transduction involved in cell cycle checkpoint (GO:0072395)3.75134036
40ribosome biogenesis (GO:0042254)3.74466940
41antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.62803750
42DNA strand elongation involved in DNA replication (GO:0006271)3.62291876
43termination of RNA polymerase III transcription (GO:0006386)3.60674665
44transcription elongation from RNA polymerase III promoter (GO:0006385)3.60674665
45ribonucleoprotein complex biogenesis (GO:0022613)3.58887476
46telomere maintenance via semi-conservative replication (GO:0032201)3.54610149
47respiratory electron transport chain (GO:0022904)3.54602104
48nucleobase-containing small molecule interconversion (GO:0015949)3.53286878
49NADH metabolic process (GO:0006734)3.51644276
50establishment of viral latency (GO:0019043)3.50953498
51protein maturation by protein folding (GO:0022417)3.48736477
52regulation of ubiquitin-protein transferase activity (GO:0051438)3.48679575
53electron transport chain (GO:0022900)3.44572706
54DNA strand elongation (GO:0022616)3.43720783
55rRNA modification (GO:0000154)3.42848012
567-methylguanosine mRNA capping (GO:0006370)3.42166778
57respiratory chain complex IV assembly (GO:0008535)3.41967616
58mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.41929210
59establishment of protein localization to mitochondrial membrane (GO:0090151)3.41782115
60viral transcription (GO:0019083)3.38872495
61DNA replication checkpoint (GO:0000076)3.37857120
62pseudouridine synthesis (GO:0001522)3.37635560
63translational termination (GO:0006415)3.37402166
64establishment of protein localization to mitochondrion (GO:0072655)3.36664822
65protein targeting to mitochondrion (GO:0006626)3.36648148
66cellular component biogenesis (GO:0044085)3.36338956
67regulation of ligase activity (GO:0051340)3.35861896
68deoxyribonucleotide biosynthetic process (GO:0009263)3.35594644
69ribosome assembly (GO:0042255)3.34890048
70translation (GO:0006412)3.33927185
717-methylguanosine RNA capping (GO:0009452)3.33487699
72RNA capping (GO:0036260)3.33487699
73antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.32444979
74protein complex biogenesis (GO:0070271)3.31022999
75deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.30884292
76translational initiation (GO:0006413)3.29492806
77translational elongation (GO:0006414)3.28770131
782-deoxyribonucleotide biosynthetic process (GO:0009265)3.27385251
79deoxyribose phosphate biosynthetic process (GO:0046385)3.27385251
80mitochondrial respiratory chain complex assembly (GO:0033108)3.25587941
81ribosomal small subunit biogenesis (GO:0042274)3.23719267
82rRNA processing (GO:0006364)3.22173768
83mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.21475309
84mitochondrial respiratory chain complex I assembly (GO:0032981)3.21475309
85NADH dehydrogenase complex assembly (GO:0010257)3.21475309
86DNA damage response, detection of DNA damage (GO:0042769)3.20218078
87cytochrome complex assembly (GO:0017004)3.18832732
88protein localization to mitochondrion (GO:0070585)3.17944934
89DNA replication initiation (GO:0006270)3.17676587
90G1/S transition of mitotic cell cycle (GO:0000082)3.17192436
91cell cycle G1/S phase transition (GO:0044843)3.17192436
92tricarboxylic acid cycle (GO:0006099)3.16405355
93mitotic metaphase plate congression (GO:0007080)3.16368858
94positive regulation of cell cycle arrest (GO:0071158)3.16197496
95peptidyl-arginine omega-N-methylation (GO:0035247)3.14647723
96DNA damage response, signal transduction by p53 class mediator (GO:0030330)3.11083520
97histone arginine methylation (GO:0034969)3.10910992
98protein neddylation (GO:0045116)3.10714126
99regulation of cellular amine metabolic process (GO:0033238)3.10313110
100telomere maintenance via recombination (GO:0000722)3.10146257
101SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.08341107
102tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.08263347
103RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.08263347
104chaperone-mediated protein transport (GO:0072321)3.08172086
105rRNA metabolic process (GO:0016072)3.08102465
106transcription-coupled nucleotide-excision repair (GO:0006283)3.07291686
107pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.06304657
108L-serine metabolic process (GO:0006563)3.05083274
109oxaloacetate metabolic process (GO:0006107)3.04821538
110negative regulation of protein ubiquitination (GO:0031397)3.01249680
111GTP biosynthetic process (GO:0006183)2.98378418
112maturation of 5.8S rRNA (GO:0000460)2.96929087
113protein-cofactor linkage (GO:0018065)2.94859725
114nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.92774667
115exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.91485866
116pyrimidine nucleoside triphosphate metabolic process (GO:0009147)2.91452427
117guanosine-containing compound biosynthetic process (GO:1901070)2.91195857
118purine nucleoside triphosphate biosynthetic process (GO:0009145)2.88157879
119peptidyl-histidine modification (GO:0018202)2.83960384
120negative regulation of protein modification by small protein conjugation or removal (GO:1903321)2.83257621
121purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.82342833
122CTP metabolic process (GO:0046036)2.81984690
123CTP biosynthetic process (GO:0006241)2.81984690
124inner mitochondrial membrane organization (GO:0007007)2.80287808
125tRNA aminoacylation for protein translation (GO:0006418)2.79740259
126UTP biosynthetic process (GO:0006228)2.79292143
127amino acid activation (GO:0043038)2.78987757
128tRNA aminoacylation (GO:0043039)2.78987757
129ATP biosynthetic process (GO:0006754)2.77278964

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYC_18555785_ChIP-Seq_MESCs_Mouse4.43406273
2* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.42096478
3E2F7_22180533_ChIP-Seq_HELA_Human4.36441112
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.33396899
5* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.89873207
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.71639175
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.64394167
8NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.56692525
9ETS1_20019798_ChIP-Seq_JURKAT_Human3.55753669
10CREB1_15753290_ChIP-ChIP_HEK293T_Human3.52833731
11* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.27094740
12HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.07924667
13MYC_19079543_ChIP-ChIP_MESCs_Mouse2.99210780
14* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.91574314
15E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.76620270
16XRN2_22483619_ChIP-Seq_HELA_Human2.56978751
17CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.55188182
18E2F1_18555785_ChIP-Seq_MESCs_Mouse2.48932981
19DCP1A_22483619_ChIP-Seq_HELA_Human2.47980431
20THAP11_20581084_ChIP-Seq_MESCs_Mouse2.44549955
21HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.44477963
22NELFA_20434984_ChIP-Seq_ESCs_Mouse2.34620056
23VDR_23849224_ChIP-Seq_CD4+_Human2.33334598
24E2F4_17652178_ChIP-ChIP_JURKAT_Human2.31907418
25* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.31440357
26GABP_19822575_ChIP-Seq_HepG2_Human2.24396651
27YY1_21170310_ChIP-Seq_MESCs_Mouse2.23934442
28SRF_21415370_ChIP-Seq_HL-1_Mouse2.13674545
29FOXP3_21729870_ChIP-Seq_TREG_Human2.07376029
30PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.05298933
31FOXM1_23109430_ChIP-Seq_U2OS_Human2.03246375
32MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.97589308
33TTF2_22483619_ChIP-Seq_HELA_Human1.94774940
34PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.91127985
35ELF1_17652178_ChIP-ChIP_JURKAT_Human1.89700418
36SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.87411199
37POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.87359229
38* ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.81117513
39CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.80584422
40MYCN_18555785_ChIP-Seq_MESCs_Mouse1.72629382
41PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.72424968
42ZFX_18555785_ChIP-Seq_MESCs_Mouse1.69145807
43* NANOG_18555785_ChIP-Seq_MESCs_Mouse1.66752157
44FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.66724158
45YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.61853283
46CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.57836497
47TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.55202371
48* ELK1_19687146_ChIP-ChIP_HELA_Human1.53864965
49* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.53093831
50AR_21909140_ChIP-Seq_LNCAP_Human1.49173585
51SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.46967383
52ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.44214859
53BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.37440054
54CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.37300106
55CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.36961706
56KDM5A_27292631_Chip-Seq_BREAST_Human1.36818077
57TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.36687152
58STAT3_1855785_ChIP-Seq_MESCs_Mouse1.36022864
59CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.34892172
60FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.33175412
61* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.33025148
62POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.30428596
63RBPJ_22232070_ChIP-Seq_NCS_Mouse1.29860090
64CIITA_25753668_ChIP-Seq_RAJI_Human1.28809262
65ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.28456176
66POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.27254045
67ELK1_22589737_ChIP-Seq_MCF10A_Human1.27242874
68E2F1_21310950_ChIP-Seq_MCF-7_Human1.21985814
69DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.19983661
70HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.18831321
71PADI4_21655091_ChIP-ChIP_MCF-7_Human1.14282014
72CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.13383203
73* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.12168810
74NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.10552639
75MYC_18940864_ChIP-ChIP_HL60_Human1.10033603
76* SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.09862020
77* KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.09100944
78MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.08239275
79OCT4_18692474_ChIP-Seq_MEFs_Mouse1.07013946
80* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.04526427
81SRY_22984422_ChIP-ChIP_TESTIS_Rat1.04394865
82HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.04076925
83* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.03884732
84DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.03093097
85ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.02913624
86E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.01224513
87CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.01176196
88CTCF_18555785_ChIP-Seq_MESCs_Mouse0.98414521
89KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.97748866
90* SOX2_18692474_ChIP-Seq_MEFs_Mouse0.97343962
91TFEB_21752829_ChIP-Seq_HELA_Human0.96483256
92SOX2_18555785_ChIP-Seq_MESCs_Mouse0.96285070
93TBX5_21415370_ChIP-Seq_HL-1_Mouse0.95617663
94TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.93595757
95NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.92039180
96CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.90500100
97PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.90380224
98NANOG_16153702_ChIP-ChIP_HESCs_Human0.89599613
99ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.89214599
100* SOX17_20123909_ChIP-Seq_XEN_Mouse0.85763940
101* FOXP1_21924763_ChIP-Seq_HESCs_Human0.84800009
102YY1_22570637_ChIP-Seq_MALME-3M_Human0.84763918
103NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.82561318
104ESR1_15608294_ChIP-ChIP_MCF-7_Human0.82548182
105CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.81252877
106CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.81042708
107SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.81031473
108ZNF274_21170338_ChIP-Seq_K562_Hela0.80205880
109* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.80188569
110PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.77991883
111SOX2_16153702_ChIP-ChIP_HESCs_Human0.72793085

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis5.14051919
2MP0003693_abnormal_embryo_hatching4.87361490
3MP0004957_abnormal_blastocyst_morpholog4.33099147
4MP0003111_abnormal_nucleus_morphology3.38753112
5MP0010094_abnormal_chromosome_stability3.25146977
6MP0003077_abnormal_cell_cycle3.10994327
7MP0006036_abnormal_mitochondrial_physio3.08390561
8MP0008932_abnormal_embryonic_tissue3.07700167
9MP0003123_paternal_imprinting3.04781828
10MP0003186_abnormal_redox_activity2.69229560
11MP0006035_abnormal_mitochondrial_morpho2.46701625
12MP0003718_maternal_effect2.40076275
13MP0008058_abnormal_DNA_repair2.39791397
14MP0009379_abnormal_foot_pigmentation2.27637004
15MP0000372_irregular_coat_pigmentation2.19886663
16MP0002736_abnormal_nociception_after2.17038827
17MP0008007_abnormal_cellular_replicative2.10900532
18MP0002938_white_spotting1.99692327
19MP0002139_abnormal_hepatobiliary_system1.96866925
20MP0001730_embryonic_growth_arrest1.91618302
21MP0003786_premature_aging1.84283817
22MP0008789_abnormal_olfactory_epithelium1.84076089
23MP0005085_abnormal_gallbladder_physiolo1.81122643
24MP0006292_abnormal_olfactory_placode1.80940655
25MP0003646_muscle_fatigue1.79690163
26MP0008877_abnormal_DNA_methylation1.78219071
27MP0001529_abnormal_vocalization1.73295861
28MP0003221_abnormal_cardiomyocyte_apopto1.70491342
29MP0004084_abnormal_cardiac_muscle1.70086047
30MP0005360_urolithiasis1.67479378
31MP0001764_abnormal_homeostasis1.67395649
32MP0000358_abnormal_cell_content/1.67362427
33MP0000749_muscle_degeneration1.66793876
34MP0002837_dystrophic_cardiac_calcinosis1.63981515
35MP0010030_abnormal_orbit_morphology1.60742226
36MP0009697_abnormal_copulation1.55015066
37MP0005332_abnormal_amino_acid1.48970498
38MP0005266_abnormal_metabolism1.47077737
39MP0000350_abnormal_cell_proliferation1.46301542
40MP0001697_abnormal_embryo_size1.45787749
41MP0003656_abnormal_erythrocyte_physiolo1.42832289
42MP0003315_abnormal_perineum_morphology1.42629679
43MP0002160_abnormal_reproductive_system1.41935367
44MP0000750_abnormal_muscle_regeneration1.39605440
45MP0005330_cardiomyopathy1.39442105
46MP0002102_abnormal_ear_morphology1.39165828
47MP0002080_prenatal_lethality1.38397949
48MP0001968_abnormal_touch/_nociception1.33982136
49MP0004147_increased_porphyrin_level1.33121453
50MP0009053_abnormal_anal_canal1.31346175
51MP0003136_yellow_coat_color1.30797843
52MP0006072_abnormal_retinal_apoptosis1.29582941
53MP0009333_abnormal_splenocyte_physiolog1.29206977
54MP0002269_muscular_atrophy1.28072554
55MP0001293_anophthalmia1.28058894
56MP0005365_abnormal_bile_salt1.23118603
57MP0001542_abnormal_bone_strength1.21510151
58MP0001672_abnormal_embryogenesis/_devel1.20860323
59MP0005380_embryogenesis_phenotype1.20860323
60MP0004133_heterotaxia1.17802888
61MP0003984_embryonic_growth_retardation1.16807745
62MP0005319_abnormal_enzyme/_coenzyme1.13752150
63MP0002088_abnormal_embryonic_growth/wei1.13645383
64MP0000049_abnormal_middle_ear1.09504758
65MP0003567_abnormal_fetal_cardiomyocyte1.09432592
66MP0002132_abnormal_respiratory_system1.07174980
67MP0004215_abnormal_myocardial_fiber1.06681803
68MP0005394_taste/olfaction_phenotype1.06466714
69MP0005499_abnormal_olfactory_system1.06466714
70MP0002163_abnormal_gland_morphology1.06327555
71MP0008260_abnormal_autophagy1.05417600
72MP0008875_abnormal_xenobiotic_pharmacok1.04985722
73MP0008057_abnormal_DNA_replication1.04797047
74MP0000313_abnormal_cell_death1.04612470
75MP0003941_abnormal_skin_development1.04154372
76MP0005389_reproductive_system_phenotype1.02675373
77MP0005084_abnormal_gallbladder_morpholo1.01184924
78MP0001984_abnormal_olfaction1.00714313
79MP0000647_abnormal_sebaceous_gland0.99794541
80MP0004233_abnormal_muscle_weight0.99592887
81MP0003195_calcinosis0.99139727
82MP0002876_abnormal_thyroid_physiology0.95075023
83MP0002234_abnormal_pharynx_morphology0.93821191
84MP0003011_delayed_dark_adaptation0.93649737
85MP0003122_maternal_imprinting0.93551076
86MP0005083_abnormal_biliary_tract0.93337515
87MP0000516_abnormal_urinary_system0.92423321
88MP0005367_renal/urinary_system_phenotyp0.92423321
89MP0000751_myopathy0.91545433
90MP0005376_homeostasis/metabolism_phenot0.91133186
91MP0005408_hypopigmentation0.90615149
92MP0002210_abnormal_sex_determination0.89866280
93MP0003880_abnormal_central_pattern0.88994031
94MP0005171_absent_coat_pigmentation0.87563505
95MP0002085_abnormal_embryonic_tissue0.87225838
96MP0009672_abnormal_birth_weight0.86086185
97MP0002019_abnormal_tumor_incidence0.86059150
98MP0004036_abnormal_muscle_relaxation0.84992100
99MP0005551_abnormal_eye_electrophysiolog0.84193744
100MP0002090_abnormal_vision0.83805099
101MP0002282_abnormal_trachea_morphology0.83015711
102MP0008872_abnormal_physiological_respon0.80406477
103MP0001919_abnormal_reproductive_system0.80228566
104MP0001145_abnormal_male_reproductive0.79422204
105MP0005584_abnormal_enzyme/coenzyme_acti0.79146097
106MP0003937_abnormal_limbs/digits/tail_de0.78584331
107MP0005636_abnormal_mineral_homeostasis0.78495047
108MP0002095_abnormal_skin_pigmentation0.78068877
109MP0001299_abnormal_eye_distance/0.77000964
110MP0006276_abnormal_autonomic_nervous0.76135565
111MP0005253_abnormal_eye_physiology0.75962401
112MP0003121_genomic_imprinting0.75390721
113MP0000598_abnormal_liver_morphology0.75281037
114MP0002396_abnormal_hematopoietic_system0.73636359
115MP0002332_abnormal_exercise_endurance0.73218833
116MP0004197_abnormal_fetal_growth/weight/0.73184996
117MP0003119_abnormal_digestive_system0.72664000
118MP0001929_abnormal_gametogenesis0.69333715
119MP0003942_abnormal_urinary_system0.69065391
120MP0009250_abnormal_appendicular_skeleto0.68820951
121MP0002751_abnormal_autonomic_nervous0.68161423
122MP0002177_abnormal_outer_ear0.68128087
123MP0001756_abnormal_urination0.67679521
124MP0009046_muscle_twitch0.67508342
125MP0002233_abnormal_nose_morphology0.67245238
126MP0000653_abnormal_sex_gland0.67012819
127MP0001119_abnormal_female_reproductive0.66020767
128MP0002127_abnormal_cardiovascular_syste0.65634404
129MP0009840_abnormal_foam_cell0.65359644
130MP0001544_abnormal_cardiovascular_syste0.64730255
131MP0005385_cardiovascular_system_phenoty0.64730255
132MP0002086_abnormal_extraembryonic_tissu0.64425013
133MP0001727_abnormal_embryo_implantation0.64205656
134MP0002653_abnormal_ependyma_morphology0.63427100
135MP0000490_abnormal_crypts_of0.63024150
136MP0005646_abnormal_pituitary_gland0.62930670
137MP0002084_abnormal_developmental_patter0.62898767
138MP0002111_abnormal_tail_morphology0.62335533
139MP0003755_abnormal_palate_morphology0.61236374
140MP0005395_other_phenotype0.61084165
141MP0008873_increased_physiological_sensi0.59272295
142MP0005384_cellular_phenotype0.57990290
143MP0001905_abnormal_dopamine_level0.57628525

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.16692182
2Hepatocellular necrosis (HP:0001404)5.12109293
3Abnormal mitochondria in muscle tissue (HP:0008316)5.06581316
4Hepatic necrosis (HP:0002605)4.86249145
5Abnormality of glycolysis (HP:0004366)4.82167779
6Increased serum pyruvate (HP:0003542)4.82167779
7Mitochondrial inheritance (HP:0001427)4.79390223
8Acute encephalopathy (HP:0006846)4.70352855
9Increased CSF lactate (HP:0002490)4.55930682
10Abnormal activity of mitochondrial respiratory chain (HP:0011922)4.23498459
11Decreased activity of mitochondrial respiratory chain (HP:0008972)4.23498459
12Progressive macrocephaly (HP:0004481)4.00861373
13Increased serum lactate (HP:0002151)4.00627644
14Cerebral hypomyelination (HP:0006808)3.70879046
15Cerebral edema (HP:0002181)3.67112982
16Oral leukoplakia (HP:0002745)3.62684453
17Lactic acidosis (HP:0003128)3.56738270
18Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.55635602
19Exercise intolerance (HP:0003546)3.33761137
20Respiratory failure (HP:0002878)3.32261531
21Birth length less than 3rd percentile (HP:0003561)3.26989365
22CNS demyelination (HP:0007305)3.26907840
23Increased hepatocellular lipid droplets (HP:0006565)3.14961070
24Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.13037190
25Lipid accumulation in hepatocytes (HP:0006561)3.11320509
26Breast hypoplasia (HP:0003187)3.10419526
27Type I transferrin isoform profile (HP:0003642)3.08472337
28Increased intramyocellular lipid droplets (HP:0012240)2.97888623
293-Methylglutaconic aciduria (HP:0003535)2.95228109
30Emotional lability (HP:0000712)2.88440320
31Multiple enchondromatosis (HP:0005701)2.85726138
32Lethargy (HP:0001254)2.85574647
33Carpal bone hypoplasia (HP:0001498)2.84008508
34Increased muscle lipid content (HP:0009058)2.81678601
35Ragged-red muscle fibers (HP:0003200)2.75361400
36Abnormality of cells of the erythroid lineage (HP:0012130)2.74765932
37Rough bone trabeculation (HP:0100670)2.72660583
38Abnormal number of erythroid precursors (HP:0012131)2.70402510
39Aplasia/Hypoplasia of the sacrum (HP:0008517)2.69772908
40Microvesicular hepatic steatosis (HP:0001414)2.63000655
41Hyperglycinemia (HP:0002154)2.60268898
42Trismus (HP:0000211)2.60057344
43Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.59842344
44Abnormal protein N-linked glycosylation (HP:0012347)2.59842344
45Abnormal protein glycosylation (HP:0012346)2.59842344
46Abnormal glycosylation (HP:0012345)2.59842344
47Reticulocytopenia (HP:0001896)2.58685814
48Testicular atrophy (HP:0000029)2.56788950
49Abnormality of the anterior horn cell (HP:0006802)2.54128394
50Degeneration of anterior horn cells (HP:0002398)2.54128394
51Macrocytic anemia (HP:0001972)2.47562950
52Leukodystrophy (HP:0002415)2.44905067
53Progressive muscle weakness (HP:0003323)2.42578564
54Secondary amenorrhea (HP:0000869)2.38902718
55Renal Fanconi syndrome (HP:0001994)2.33947911
56Respiratory difficulties (HP:0002880)2.32326537
57Dicarboxylic aciduria (HP:0003215)2.32299138
58Abnormality of dicarboxylic acid metabolism (HP:0010995)2.32299138
59Nausea (HP:0002018)2.29706368
60Aplastic anemia (HP:0001915)2.28716777
61Methylmalonic acidemia (HP:0002912)2.25869378
62Rhabdomyolysis (HP:0003201)2.24109406
63Microretrognathia (HP:0000308)2.23975375
64Poor suck (HP:0002033)2.21807006
65Hypobetalipoproteinemia (HP:0003563)2.21116737
66Abnormality of placental membranes (HP:0011409)2.18241910
67Abnormality of serum amino acid levels (HP:0003112)2.18057022
68Exertional dyspnea (HP:0002875)2.17988316
69Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.17499423
70Abnormality of alanine metabolism (HP:0010916)2.17499423
71Hyperalaninemia (HP:0003348)2.17499423
72Hyperglycinuria (HP:0003108)2.16034657
73Abnormality of the heme biosynthetic pathway (HP:0010472)2.15736154
74Progressive external ophthalmoplegia (HP:0000590)2.13844776
75X-linked dominant inheritance (HP:0001423)2.09690421
76Optic disc pallor (HP:0000543)2.08987315
77Patellar aplasia (HP:0006443)2.08926142
78Neuroendocrine neoplasm (HP:0100634)2.07437308
79Hyperammonemia (HP:0001987)2.07186744
80Premature ovarian failure (HP:0008209)2.06395142
81Gliosis (HP:0002171)2.03999167
82Abnormal trabecular bone morphology (HP:0100671)2.01643094
83Delusions (HP:0000746)2.00403703
84Unsteady gait (HP:0002317)1.99835788
85Colon cancer (HP:0003003)1.99691201
86Aplasia/Hypoplasia of the patella (HP:0006498)1.99494817
87Meckel diverticulum (HP:0002245)1.99231467
88Abnormality of aromatic amino acid family metabolism (HP:0004338)1.99061906
89Angiofibromas (HP:0010615)1.98915718
90Adenoma sebaceum (HP:0009720)1.98915718
91Hypoplasia of the capital femoral epiphysis (HP:0003090)1.98074301
92Abnormality of glycine metabolism (HP:0010895)1.97776587
93Abnormality of serine family amino acid metabolism (HP:0010894)1.97776587
94Sparse eyelashes (HP:0000653)1.97408351
95Abnormal gallbladder physiology (HP:0012438)1.96965370
96Cholecystitis (HP:0001082)1.96965370
97Reduced antithrombin III activity (HP:0001976)1.96643018
98Abnormality of methionine metabolism (HP:0010901)1.94385470
99Methylmalonic aciduria (HP:0012120)1.93564825
100Abnormality of pyrimidine metabolism (HP:0004353)1.92632775
101Neoplasm of the adrenal gland (HP:0100631)1.91703071
102Megaloblastic anemia (HP:0001889)1.90583396
103Adrenal hypoplasia (HP:0000835)1.89171088
104Hypoplastic pelvis (HP:0008839)1.88366985
105Opisthotonus (HP:0002179)1.88305168
106Aplasia/Hypoplasia involving the musculature (HP:0001460)1.87943939
107Pheochromocytoma (HP:0002666)1.87269354
108Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.86805978
109Hypokinesia (HP:0002375)1.86600995
110Abnormality of fatty-acid metabolism (HP:0004359)1.86421256
111Abnormality of the ileum (HP:0001549)1.85023682
112Abnormality of the labia minora (HP:0012880)1.84420253
113Vomiting (HP:0002013)1.83925067
114Type 2 muscle fiber atrophy (HP:0003554)1.83801591
115Ependymoma (HP:0002888)1.83365220
116Neoplasm of the peripheral nervous system (HP:0100007)1.82539391
117Muscle fiber atrophy (HP:0100295)1.82122341
118Pancytopenia (HP:0001876)1.82049351
119Selective tooth agenesis (HP:0001592)1.81752728
120CNS hypomyelination (HP:0003429)1.79051403
121Abnormality of the umbilical cord (HP:0010881)1.78089123
122Proximal tubulopathy (HP:0000114)1.76135862
123Horseshoe kidney (HP:0000085)1.75926143
124Delayed CNS myelination (HP:0002188)1.75521014
125Amniotic constriction ring (HP:0009775)1.75328567
126Chromosomal breakage induced by crosslinking agents (HP:0003221)1.73558532
127Sclerocornea (HP:0000647)1.73322101
128Delayed gross motor development (HP:0002194)1.73277909
129Chromsome breakage (HP:0040012)1.71978236
130Abnormality of the preputium (HP:0100587)1.70422010
131Blindness (HP:0000618)1.69589562
132Abnormalities of placenta or umbilical cord (HP:0001194)1.68234045
133Abnormality of renal resorption (HP:0011038)1.67136072
134Progressive microcephaly (HP:0000253)1.65268646
135Entropion (HP:0000621)1.65077351
136Aplasia/hypoplasia of the uterus (HP:0008684)1.63279930

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.43501233
2VRK24.89948861
3EIF2AK14.71280146
4STK163.34034255
5TESK23.13669163
6WEE13.09441268
7NME22.99523908
8NEK12.89177939
9BCKDK2.50361809
10TSSK62.40370055
11TLK12.24738472
12TRIM282.12552842
13SRPK12.10411265
14TESK12.05152263
15CDC71.97873008
16EIF2AK31.96404031
17MAP3K111.95073224
18MAP3K121.94066345
19PLK41.93975256
20PIM21.91388400
21BRAF1.76623175
22LIMK11.76441094
23ARAF1.65534004
24KDR1.64899954
25NME11.57908396
26NUAK11.48433363
27PDK31.47932442
28PDK41.47932442
29PLK11.46376094
30ACVR1B1.45878519
31MYLK1.42920935
32CCNB11.42698832
33AURKA1.40974037
34CSNK1G31.35435163
35BRSK21.30676288
36MAP4K21.28515889
37MKNK11.27354792
38PLK31.26702706
39BRSK11.25829988
40VRK11.24650629
41PBK1.16154210
42TTK1.15862849
43STK38L1.13155650
44CSNK1G11.12708766
45BMPR1B1.08420062
46NEK91.07496001
47EPHA21.07393604
48AKT31.04903686
49CSNK1G21.02958500
50CSNK1A1L1.01737728
51AURKB0.97081179
52NEK20.95992389
53DAPK30.92229036
54ILK0.89831787
55MKNK20.88425363
56MAP2K70.88111868
57DYRK20.86729247
58PRKD30.86592232
59DAPK10.86387667
60PHKG20.85998157
61PHKG10.85998157
62PAK40.85890752
63CDK80.85550719
64TAF10.84766363
65DYRK30.84765553
66ERBB40.82699207
67MUSK0.82077748
68ZAK0.81709308
69PAK10.81678075
70CDK70.81002318
71CDK190.78477486
72OBSCN0.74286153
73LATS20.73123618
74PLK20.70891888
75ABL20.69255843
76CSNK2A10.68966726
77PDK20.67198711
78MAPKAPK30.64180023
79BCR0.63343115
80PRKCI0.60191137
81ATR0.58351114
82CSNK2A20.57354204
83RPS6KA40.57306450
84GRK10.53790189
85MAP3K80.53726352
86CDK140.51105690
87STK240.51038964
88EIF2AK20.49014690
89CASK0.49006493
90WNK40.48254692
91CHEK20.48142081
92GRK50.46406831
93RPS6KB20.45460433
94SCYL20.44759973
95MAPKAPK50.44135939
96LMTK20.43932550
97MINK10.43884221
98SIK30.43244078
99MST1R0.40368405
100CDK180.40191153
101PNCK0.39628068
102PINK10.37790236
103PKN20.37494035
104LRRK20.37214678
105FLT30.36632405
106TGFBR10.35913344
107CHEK10.35852205
108TAOK20.35557820
109CAMK2D0.35394027
110AKT20.35155047
111CDK11A0.35110441
112MAP3K50.34642280
113CDK150.34550835
114PAK60.33631916
115MAP2K60.33185462
116PASK0.32190615
117PRKCG0.30977935
118CSNK1E0.29034819
119CDK20.27683963
120CSNK1A10.27172534
121WNK30.26863923
122PRKCE0.26468391
123PAK30.26412985
124MST40.25249751
125CAMK2G0.24946737
126MAP3K30.21532823
127CDK10.19382538
128CDK40.19196051
129MAP2K30.17420872
130STK40.15066632
131ATM0.14981464

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.74826843
2Ribosome_Homo sapiens_hsa030103.40403940
3DNA replication_Homo sapiens_hsa030303.20259391
4RNA polymerase_Homo sapiens_hsa030203.11749607
5Oxidative phosphorylation_Homo sapiens_hsa001903.04361572
6Parkinsons disease_Homo sapiens_hsa050122.82488387
7Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.78157271
8Mismatch repair_Homo sapiens_hsa034302.76023590
9Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.73710796
102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.38567651
11Spliceosome_Homo sapiens_hsa030402.32056171
12Pyrimidine metabolism_Homo sapiens_hsa002402.22346959
13Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.22010853
14Huntingtons disease_Homo sapiens_hsa050162.09916716
15RNA transport_Homo sapiens_hsa030132.08956890
16Nucleotide excision repair_Homo sapiens_hsa034201.99334727
17Base excision repair_Homo sapiens_hsa034101.93690424
18Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.87513962
19One carbon pool by folate_Homo sapiens_hsa006701.86438085
20Homologous recombination_Homo sapiens_hsa034401.82908405
21Carbon metabolism_Homo sapiens_hsa012001.81028310
22Biosynthesis of amino acids_Homo sapiens_hsa012301.76098004
23Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.75696830
24Cysteine and methionine metabolism_Homo sapiens_hsa002701.68105744
25Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.66797958
26Alzheimers disease_Homo sapiens_hsa050101.66435396
27Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.54699472
28Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.53794492
29Pyruvate metabolism_Homo sapiens_hsa006201.51954429
30Folate biosynthesis_Homo sapiens_hsa007901.51371097
31Protein export_Homo sapiens_hsa030601.49109120
32Cyanoamino acid metabolism_Homo sapiens_hsa004601.43251060
33Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.42992648
34Cell cycle_Homo sapiens_hsa041101.41233748
35Sulfur relay system_Homo sapiens_hsa041221.34289077
36Vitamin B6 metabolism_Homo sapiens_hsa007501.26467452
37Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.23287699
38Pentose phosphate pathway_Homo sapiens_hsa000301.21921066
39Purine metabolism_Homo sapiens_hsa002301.18288356
40Basal transcription factors_Homo sapiens_hsa030221.17109701
41Propanoate metabolism_Homo sapiens_hsa006401.12374111
42Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.08999133
43RNA degradation_Homo sapiens_hsa030181.06559856
44Drug metabolism - other enzymes_Homo sapiens_hsa009831.04151228
45Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.02486694
46Cardiac muscle contraction_Homo sapiens_hsa042601.01734132
47Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.98521342
48Glutathione metabolism_Homo sapiens_hsa004800.97736939
49Selenocompound metabolism_Homo sapiens_hsa004500.91828731
50Fanconi anemia pathway_Homo sapiens_hsa034600.86532951
51Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.78566966
52Fructose and mannose metabolism_Homo sapiens_hsa000510.77963825
53Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.77941937
54Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.77802900
55Fatty acid degradation_Homo sapiens_hsa000710.77773580
56Metabolic pathways_Homo sapiens_hsa011000.75862284
57Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.74605456
58N-Glycan biosynthesis_Homo sapiens_hsa005100.73061816
59Epstein-Barr virus infection_Homo sapiens_hsa051690.72475707
60Peroxisome_Homo sapiens_hsa041460.71968534
61Arginine and proline metabolism_Homo sapiens_hsa003300.71931639
62Primary bile acid biosynthesis_Homo sapiens_hsa001200.70929325
63p53 signaling pathway_Homo sapiens_hsa041150.69903196
64Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.68799820
65Butanoate metabolism_Homo sapiens_hsa006500.68042188
66Arginine biosynthesis_Homo sapiens_hsa002200.66594860
67Phenylalanine metabolism_Homo sapiens_hsa003600.65173920
68mRNA surveillance pathway_Homo sapiens_hsa030150.63305728
69Fatty acid elongation_Homo sapiens_hsa000620.58083100
70beta-Alanine metabolism_Homo sapiens_hsa004100.57144563
71Collecting duct acid secretion_Homo sapiens_hsa049660.55877188
72Galactose metabolism_Homo sapiens_hsa000520.55776142
73Oocyte meiosis_Homo sapiens_hsa041140.55564906
74Vibrio cholerae infection_Homo sapiens_hsa051100.51532400
75Phototransduction_Homo sapiens_hsa047440.48904997
76Tyrosine metabolism_Homo sapiens_hsa003500.48492339
77Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.48426194
78Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.48358074
79Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.47504842
80Non-homologous end-joining_Homo sapiens_hsa034500.46526736
81Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.44250161
82Regulation of autophagy_Homo sapiens_hsa041400.42846622
83Fatty acid metabolism_Homo sapiens_hsa012120.42125474
84SNARE interactions in vesicular transport_Homo sapiens_hsa041300.40502291
85Tryptophan metabolism_Homo sapiens_hsa003800.38739194
86Pentose and glucuronate interconversions_Homo sapiens_hsa000400.38146575
87Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.38068240
88Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.36959995
89Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.28298261
90Thyroid cancer_Homo sapiens_hsa052160.26620257
91Chemical carcinogenesis_Homo sapiens_hsa052040.25871637
92Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.22962493
93Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.20426828
94Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.19250393
95Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.16693913
96Hedgehog signaling pathway_Homo sapiens_hsa043400.16583546
97Legionellosis_Homo sapiens_hsa051340.16451449
98Basal cell carcinoma_Homo sapiens_hsa052170.16313375
99Nitrogen metabolism_Homo sapiens_hsa009100.15015782
100Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.14765583
101Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.14570272
102Hippo signaling pathway_Homo sapiens_hsa043900.11624952
103Lysine degradation_Homo sapiens_hsa003100.10995280
104Sulfur metabolism_Homo sapiens_hsa009200.10907870
105Bladder cancer_Homo sapiens_hsa052190.10001152
106Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.09137470
107Fat digestion and absorption_Homo sapiens_hsa049750.07180566
108Arachidonic acid metabolism_Homo sapiens_hsa005900.06010945
109Retinol metabolism_Homo sapiens_hsa008300.04538237
110Histidine metabolism_Homo sapiens_hsa003400.04504341
111Steroid biosynthesis_Homo sapiens_hsa001000.04493246
112Synaptic vesicle cycle_Homo sapiens_hsa047210.04134943

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