COPS3

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 possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA strand elongation involved in DNA replication (GO:0006271)4.63613410
2DNA strand elongation (GO:0022616)4.44576724
3DNA replication initiation (GO:0006270)4.40990358
4telomere maintenance via semi-conservative replication (GO:0032201)4.32152977
5DNA unwinding involved in DNA replication (GO:0006268)4.29779552
6nucleobase biosynthetic process (GO:0046112)4.29730009
7purine nucleobase biosynthetic process (GO:0009113)4.16060827
8* cullin deneddylation (GO:0010388)4.12254471
9formation of translation preinitiation complex (GO:0001731)4.09561848
10CENP-A containing nucleosome assembly (GO:0034080)3.97350070
11chromatin remodeling at centromere (GO:0031055)3.95044821
12DNA replication checkpoint (GO:0000076)3.92971518
13maturation of SSU-rRNA (GO:0030490)3.91528764
14* protein deneddylation (GO:0000338)3.89556091
15establishment of integrated proviral latency (GO:0075713)3.88124974
16negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.82761454
17proteasome assembly (GO:0043248)3.82398485
18telomere maintenance via recombination (GO:0000722)3.82013630
19ribosomal small subunit assembly (GO:0000028)3.81075345
20mitotic metaphase plate congression (GO:0007080)3.73896521
21positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.72635031
22mitotic recombination (GO:0006312)3.71956371
23regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.68685400
24anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.67594436
25DNA deamination (GO:0045006)3.62333748
26nucleotide-excision repair, DNA gap filling (GO:0006297)3.61744029
27spliceosomal snRNP assembly (GO:0000387)3.60526732
28DNA ligation (GO:0006266)3.60492344
29telomere maintenance via telomere lengthening (GO:0010833)3.55477471
30viral mRNA export from host cell nucleus (GO:0046784)3.55403212
31double-strand break repair via nonhomologous end joining (GO:0006303)3.52860481
32non-recombinational repair (GO:0000726)3.52860481
33mitotic sister chromatid segregation (GO:0000070)3.52795291
34negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.52535833
35negative regulation of ligase activity (GO:0051352)3.52535833
36DNA replication-independent nucleosome assembly (GO:0006336)3.51284610
37DNA replication-independent nucleosome organization (GO:0034724)3.51284610
38DNA damage response, detection of DNA damage (GO:0042769)3.50342398
39DNA replication-dependent nucleosome organization (GO:0034723)3.49477756
40DNA replication-dependent nucleosome assembly (GO:0006335)3.49477756
41establishment of protein localization to mitochondrial membrane (GO:0090151)3.48847879
42IMP biosynthetic process (GO:0006188)3.47523708
43deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.44487500
44DNA catabolic process, exonucleolytic (GO:0000738)3.42163893
45folic acid-containing compound biosynthetic process (GO:0009396)3.41317338
46mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.40797032
47DNA double-strand break processing (GO:0000729)3.40767849
48nuclear pore complex assembly (GO:0051292)3.40681051
49protein localization to kinetochore (GO:0034501)3.40262265
50histone exchange (GO:0043486)3.39852798
51metaphase plate congression (GO:0051310)3.39087855
52transcription-coupled nucleotide-excision repair (GO:0006283)3.32783797
53protein localization to chromosome, centromeric region (GO:0071459)3.30616000
54positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.30246003
55tRNA aminoacylation for protein translation (GO:0006418)3.29766781
56attachment of spindle microtubules to kinetochore (GO:0008608)3.29534592
57spliceosomal complex assembly (GO:0000245)3.28701640
58mitotic nuclear envelope disassembly (GO:0007077)3.27503033
59amino acid activation (GO:0043038)3.27287369
60tRNA aminoacylation (GO:0043039)3.27287369
61DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.26517725
62kinetochore organization (GO:0051383)3.26197110
63regulation of mitochondrial translation (GO:0070129)3.25897925
64nuclear pore organization (GO:0006999)3.24135271
65somatic hypermutation of immunoglobulin genes (GO:0016446)3.23469205
66somatic diversification of immune receptors via somatic mutation (GO:0002566)3.23469205
67intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.23201591
68signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.23201591
69ribosome biogenesis (GO:0042254)3.22842148
70signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.20108917
71signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.20108917
72signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.20108917
73regulation of helicase activity (GO:0051095)3.18119935
74sister chromatid segregation (GO:0000819)3.17982523
75mitotic spindle checkpoint (GO:0071174)3.17693849
76regulation of ligase activity (GO:0051340)3.17063619
77G1/S transition of mitotic cell cycle (GO:0000082)3.16314927
78cell cycle G1/S phase transition (GO:0044843)3.16314927
79signal transduction involved in DNA integrity checkpoint (GO:0072401)3.16250344
80signal transduction involved in DNA damage checkpoint (GO:0072422)3.16250344
81positive regulation of ligase activity (GO:0051351)3.16247666
82regulation of cellular amino acid metabolic process (GO:0006521)3.15134339
83ribosomal large subunit biogenesis (GO:0042273)3.14315435
84IMP metabolic process (GO:0046040)3.13755537
85signal transduction involved in cell cycle checkpoint (GO:0072395)3.12749477
867-methylguanosine mRNA capping (GO:0006370)3.11880473
87ribosome assembly (GO:0042255)3.10884343
88regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.10524586
89ribonucleoprotein complex biogenesis (GO:0022613)3.10351333
90mitotic chromosome condensation (GO:0007076)3.10333390
91RNA capping (GO:0036260)3.08472170
927-methylguanosine RNA capping (GO:0009452)3.08472170
93regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.07855352
94regulation of mitotic spindle checkpoint (GO:1903504)3.07855352
95energy coupled proton transport, down electrochemical gradient (GO:0015985)3.07212560
96ATP synthesis coupled proton transport (GO:0015986)3.07212560
97protein targeting to mitochondrion (GO:0006626)3.05922484
98rRNA modification (GO:0000154)3.05597787
99negative regulation of mitotic sister chromatid segregation (GO:0033048)3.04161195
100negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.04161195
101negative regulation of sister chromatid segregation (GO:0033046)3.04161195
102negative regulation of mitotic sister chromatid separation (GO:2000816)3.04161195
103pseudouridine synthesis (GO:0001522)3.04095421
104maturation of 5.8S rRNA (GO:0000460)3.04076354
105rRNA processing (GO:0006364)3.03468890
106RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.02881394
107tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.02881394
108membrane disassembly (GO:0030397)3.02790306
109nuclear envelope disassembly (GO:0051081)3.02790306
110establishment of viral latency (GO:0019043)3.01966432
111regulation of ubiquitin-protein transferase activity (GO:0051438)3.00643823
112establishment of chromosome localization (GO:0051303)3.00513292
113respiratory chain complex IV assembly (GO:0008535)3.00218593
114mitotic spindle assembly checkpoint (GO:0007094)2.99176636
115negative regulation of chromosome segregation (GO:0051985)2.99027975
116L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.99013035
117nucleobase-containing small molecule interconversion (GO:0015949)2.98949633
118spindle assembly checkpoint (GO:0071173)2.98159826
119regulation of chromosome segregation (GO:0051983)2.97280021
120chaperone-mediated protein transport (GO:0072321)2.97071158
121SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.95960396
122negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.95627194
123deoxyribonucleotide biosynthetic process (GO:0009263)2.94428857
124spindle checkpoint (GO:0031577)2.93941759
125translational termination (GO:0006415)2.93591713
126cotranslational protein targeting to membrane (GO:0006613)2.92805845
127kinetochore assembly (GO:0051382)2.92731938
128rRNA metabolic process (GO:0016072)2.92335022
129translation (GO:0006412)2.91492649

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.46936360
2* MYC_18555785_ChIP-Seq_MESCs_Mouse4.45983942
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.36009660
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.68387634
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.68100551
6EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.63992745
7JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.49109009
8E2F4_17652178_ChIP-ChIP_JURKAT_Human3.45851091
9* CREB1_15753290_ChIP-ChIP_HEK293T_Human3.22466107
10ETS1_20019798_ChIP-Seq_JURKAT_Human3.20266313
11HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.17631129
12MYC_18358816_ChIP-ChIP_MESCs_Mouse3.04658259
13* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.98441965
14FOXM1_23109430_ChIP-Seq_U2OS_Human2.91700746
15FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.88154853
16CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.85789218
17MYC_19079543_ChIP-ChIP_MESCs_Mouse2.84554797
18NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.79199049
19MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.64382769
20NELFA_20434984_ChIP-Seq_ESCs_Mouse2.57752819
21XRN2_22483619_ChIP-Seq_HELA_Human2.50412091
22* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.46886446
23* VDR_23849224_ChIP-Seq_CD4+_Human2.46250180
24ELF1_17652178_ChIP-ChIP_JURKAT_Human2.42984729
25THAP11_20581084_ChIP-Seq_MESCs_Mouse2.36518155
26DCP1A_22483619_ChIP-Seq_HELA_Human2.33587060
27PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.32713089
28* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.31617823
29FOXP3_21729870_ChIP-Seq_TREG_Human2.20848947
30E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.19739977
31* GABP_19822575_ChIP-Seq_HepG2_Human2.14031783
32PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.08647828
33ELK1_19687146_ChIP-ChIP_HELA_Human2.02550214
34MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.02467211
35MYCN_18555785_ChIP-Seq_MESCs_Mouse2.00796719
36* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.98546635
37AR_21909140_ChIP-Seq_LNCAP_Human1.98329345
38TTF2_22483619_ChIP-Seq_HELA_Human1.97429474
39SRF_21415370_ChIP-Seq_HL-1_Mouse1.97061037
40RBPJ_22232070_ChIP-Seq_NCS_Mouse1.97040038
41FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.96809678
42SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.93672832
43* ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.91643849
44POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.86340908
45* E2F1_21310950_ChIP-Seq_MCF-7_Human1.84621420
46YY1_21170310_ChIP-Seq_MESCs_Mouse1.81026977
47* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.80499056
48ZFX_18555785_ChIP-Seq_MESCs_Mouse1.77298787
49HOXB4_20404135_ChIP-ChIP_EML_Mouse1.66248500
50CIITA_25753668_ChIP-Seq_RAJI_Human1.54175077
51PADI4_21655091_ChIP-ChIP_MCF-7_Human1.52998157
52CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.51564266
53NANOG_18555785_ChIP-Seq_MESCs_Mouse1.50886616
54MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.47348059
55* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.46917918
56FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.43708016
57* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.42659104
58TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.40998663
59KDM5A_27292631_Chip-Seq_BREAST_Human1.36803511
60ERG_20887958_ChIP-Seq_HPC-7_Mouse1.35917251
61POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.33121091
62SOX2_18555785_ChIP-Seq_MESCs_Mouse1.25448212
63HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.22492099
64BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.16458104
65* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.15436235
66DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.14396790
67* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.13533719
68SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.12501350
69ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.12482910
70FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.11297596
71MYC_18940864_ChIP-ChIP_HL60_Human1.10087951
72TFEB_21752829_ChIP-Seq_HELA_Human1.07016822
73CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.06486599
74KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.01986162
75CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.01380355
76* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.00595190
77TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.00357479
78PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.97845703
79KLF4_18555785_ChIP-Seq_MESCs_Mouse0.96594653
80* SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.95324511
81POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.94151470
82ELK1_22589737_ChIP-Seq_MCF10A_Human0.93209575
83SOX17_20123909_ChIP-Seq_XEN_Mouse0.92496169
84EWS_26573619_Chip-Seq_HEK293_Human0.90754433
85SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.88985093
86DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.87842937
87NOTCH1_21737748_ChIP-Seq_TLL_Human0.86454860
88GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.86432529
89ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.85533551
90CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.85301699
91NANOG_21062744_ChIP-ChIP_HESCs_Human0.84592858
92ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.84111628
93SOX2_16153702_ChIP-ChIP_HESCs_Human0.83877982
94HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.83736547
95SALL1_21062744_ChIP-ChIP_HESCs_Human0.83109673
96CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.81991618
97IRF1_19129219_ChIP-ChIP_H3396_Human0.81971510
98TBX5_21415370_ChIP-Seq_HL-1_Mouse0.80972313
99CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.80404878
100NANOG_16153702_ChIP-ChIP_HESCs_Human0.76174366
101* CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.76077456
102FUS_26573619_Chip-Seq_HEK293_Human0.75910160
103TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.75307345
104EGR1_19374776_ChIP-ChIP_THP-1_Human0.73477177
105STAT3_1855785_ChIP-Seq_MESCs_Mouse0.73374050
106HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.73034838
107TP63_19390658_ChIP-ChIP_HaCaT_Human0.72853506
108ZNF274_21170338_ChIP-Seq_K562_Hela0.72461172
109POU5F1_16153702_ChIP-ChIP_HESCs_Human0.68190940
110CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.65218348

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.15961497
2MP0010094_abnormal_chromosome_stability4.86956501
3* MP0004957_abnormal_blastocyst_morpholog4.34602525
4MP0003111_abnormal_nucleus_morphology3.89540459
5MP0008058_abnormal_DNA_repair3.81251959
6MP0008057_abnormal_DNA_replication3.81247928
7MP0003077_abnormal_cell_cycle3.73289646
8MP0008877_abnormal_DNA_methylation3.24408963
9MP0008007_abnormal_cellular_replicative3.17282113
10MP0003123_paternal_imprinting3.09840523
11MP0008932_abnormal_embryonic_tissue3.01253017
12MP0003786_premature_aging2.36876415
13MP0003806_abnormal_nucleotide_metabolis2.35359223
14MP0001730_embryonic_growth_arrest2.26429666
15MP0003121_genomic_imprinting1.99530361
16MP0006036_abnormal_mitochondrial_physio1.91522476
17MP0002160_abnormal_reproductive_system1.85645416
18MP0000350_abnormal_cell_proliferation1.84814608
19MP0002102_abnormal_ear_morphology1.80265055
20MP0003890_abnormal_embryonic-extraembry1.75392560
21MP0002938_white_spotting1.73561655
22MP0001697_abnormal_embryo_size1.65579399
23MP0002210_abnormal_sex_determination1.60304650
24MP0010030_abnormal_orbit_morphology1.56032025
25MP0006054_spinal_hemorrhage1.54314147
26MP0006292_abnormal_olfactory_placode1.51402645
27MP0008995_early_reproductive_senescence1.49643477
28* MP0002080_prenatal_lethality1.46388267
29MP0005380_embryogenesis_phenotype1.45753557
30MP0001672_abnormal_embryogenesis/_devel1.45753557
31MP0001929_abnormal_gametogenesis1.45068679
32MP0004133_heterotaxia1.43594587
33MP0006035_abnormal_mitochondrial_morpho1.42309801
34MP0001145_abnormal_male_reproductive1.41764035
35MP0003718_maternal_effect1.41570652
36MP0003941_abnormal_skin_development1.40696736
37MP0002396_abnormal_hematopoietic_system1.39786375
38MP0009697_abnormal_copulation1.38151237
39* MP0002085_abnormal_embryonic_tissue1.36060686
40MP0003122_maternal_imprinting1.35697049
41MP0004233_abnormal_muscle_weight1.34126957
42MP0000537_abnormal_urethra_morphology1.32193246
43MP0003984_embryonic_growth_retardation1.30347896
44MP0001529_abnormal_vocalization1.27618946
45MP0000653_abnormal_sex_gland1.26375633
46MP0005389_reproductive_system_phenotype1.25939167
47MP0002088_abnormal_embryonic_growth/wei1.24285082
48* MP0002084_abnormal_developmental_patter1.23051983
49MP0003186_abnormal_redox_activity1.20704466
50MP0006072_abnormal_retinal_apoptosis1.20226478
51MP0000313_abnormal_cell_death1.20096426
52MP0000358_abnormal_cell_content/1.18868506
53MP0002751_abnormal_autonomic_nervous1.12040378
54MP0003315_abnormal_perineum_morphology1.08803924
55MP0008789_abnormal_olfactory_epithelium1.08473365
56MP0002653_abnormal_ependyma_morphology1.05674987
57MP0001293_anophthalmia1.04492474
58MP0004197_abnormal_fetal_growth/weight/1.04486732
59MP0003119_abnormal_digestive_system1.01502201
60MP0003698_abnormal_male_reproductive1.00908750
61MP0003567_abnormal_fetal_cardiomyocyte0.99383111
62MP0010307_abnormal_tumor_latency0.98839326
63MP0005187_abnormal_penis_morphology0.96129871
64MP0010352_gastrointestinal_tract_polyps0.94719198
65MP0005075_abnormal_melanosome_morpholog0.94455607
66MP0002019_abnormal_tumor_incidence0.89772023
67MP0004147_increased_porphyrin_level0.88125728
68MP0003221_abnormal_cardiomyocyte_apopto0.87147424
69* MP0002086_abnormal_extraembryonic_tissu0.86444885
70MP0003646_muscle_fatigue0.86085517
71MP0002638_abnormal_pupillary_reflex0.85841328
72MP0009672_abnormal_birth_weight0.84969257
73MP0009379_abnormal_foot_pigmentation0.84784123
74MP0005266_abnormal_metabolism0.83575624
75MP0002234_abnormal_pharynx_morphology0.83221653
76MP0005645_abnormal_hypothalamus_physiol0.83190752
77MP0000566_synostosis0.79746531
78MP0005330_cardiomyopathy0.78196044
79MP0001346_abnormal_lacrimal_gland0.78171861
80MP0003950_abnormal_plasma_membrane0.77436681
81MP0004145_abnormal_muscle_electrophysio0.76777923
82MP0001119_abnormal_female_reproductive0.76196595
83MP0002269_muscular_atrophy0.74438258
84MP0000372_irregular_coat_pigmentation0.73933873
85MP0003656_abnormal_erythrocyte_physiolo0.73775792
86MP0002161_abnormal_fertility/fecundity0.72936880
87MP0005410_abnormal_fertilization0.72539040
88MP0001986_abnormal_taste_sensitivity0.72354286
89MP0002090_abnormal_vision0.72248543
90MP0003937_abnormal_limbs/digits/tail_de0.71774864
91MP0005408_hypopigmentation0.71330367
92MP0004215_abnormal_myocardial_fiber0.70538599
93MP0002127_abnormal_cardiovascular_syste0.70208267
94MP0000013_abnormal_adipose_tissue0.69979477
95MP0001764_abnormal_homeostasis0.69511159
96MP0005501_abnormal_skin_physiology0.68982772
97MP0002163_abnormal_gland_morphology0.68917320
98MP0000490_abnormal_crypts_of0.68707584
99MP0002822_catalepsy0.67555039
100MP0003942_abnormal_urinary_system0.66629884
101MP0005384_cellular_phenotype0.66614427
102MP0008260_abnormal_autophagy0.66021259
103MP0002111_abnormal_tail_morphology0.65555468
104MP0000647_abnormal_sebaceous_gland0.65464731
105MP0005084_abnormal_gallbladder_morpholo0.63616801
106MP0000631_abnormal_neuroendocrine_gland0.63350097
107MP0001919_abnormal_reproductive_system0.63140987
108MP0005499_abnormal_olfactory_system0.63093889
109MP0005394_taste/olfaction_phenotype0.63093889
110MP0004808_abnormal_hematopoietic_stem0.62608273
111MP0000049_abnormal_middle_ear0.61181927
112MP0000749_muscle_degeneration0.60933817
113MP0009703_decreased_birth_body0.60741884
114MP0003943_abnormal_hepatobiliary_system0.60206297
115MP0001727_abnormal_embryo_implantation0.60019859
116MP0006276_abnormal_autonomic_nervous0.59481968
117MP0003787_abnormal_imprinting0.59355610
118MP0004782_abnormal_surfactant_physiolog0.59121561
119MP0001286_abnormal_eye_development0.58757369
120MP0004084_abnormal_cardiac_muscle0.57975775
121MP0001188_hyperpigmentation0.57845323
122MP0005253_abnormal_eye_physiology0.57739935
123MP0002095_abnormal_skin_pigmentation0.56366221
124MP0001661_extended_life_span0.55659261
125MP0002837_dystrophic_cardiac_calcinosis0.55492990
126MP0005395_other_phenotype0.52181437
127MP0003699_abnormal_female_reproductive0.49415903

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)4.30732607
2Increased serum pyruvate (HP:0003542)4.22913052
3Abnormality of glycolysis (HP:0004366)4.22913052
4Acute necrotizing encephalopathy (HP:0006965)3.89695344
5Abnormal mitochondria in muscle tissue (HP:0008316)3.68076222
6Increased CSF lactate (HP:0002490)3.51262388
7Mitochondrial inheritance (HP:0001427)3.48894588
8Reticulocytopenia (HP:0001896)3.43888121
9Hepatocellular necrosis (HP:0001404)3.31115667
10Abnormality of cells of the erythroid lineage (HP:0012130)3.25258213
11Aplastic anemia (HP:0001915)3.19709372
12Hepatic necrosis (HP:0002605)3.15022409
13Abnormal number of erythroid precursors (HP:0012131)3.14986752
14Acute encephalopathy (HP:0006846)3.13057600
15Breast hypoplasia (HP:0003187)3.12471159
16Progressive macrocephaly (HP:0004481)3.08040460
17Oral leukoplakia (HP:0002745)3.06896722
18Colon cancer (HP:0003003)3.02179554
19Increased serum lactate (HP:0002151)2.94619079
20Cerebral hypomyelination (HP:0006808)2.91122638
21Chromsome breakage (HP:0040012)2.89421030
22Degeneration of anterior horn cells (HP:0002398)2.84857169
23Abnormality of the anterior horn cell (HP:0006802)2.84857169
24Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.75967376
25Decreased activity of mitochondrial respiratory chain (HP:0008972)2.75967376
26Increased hepatocellular lipid droplets (HP:0006565)2.71206081
27Chromosomal breakage induced by crosslinking agents (HP:0003221)2.68899983
28Meckel diverticulum (HP:0002245)2.64275471
29Medulloblastoma (HP:0002885)2.62573647
30Abnormality of the preputium (HP:0100587)2.61815460
31Lipid accumulation in hepatocytes (HP:0006561)2.59747104
32Microvesicular hepatic steatosis (HP:0001414)2.57851500
33Abnormality of the ileum (HP:0001549)2.56379308
34Abnormality of chromosome stability (HP:0003220)2.56029981
35Increased intramyocellular lipid droplets (HP:0012240)2.55235712
36Hyperalaninemia (HP:0003348)2.55058842
37Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.55058842
38Abnormality of alanine metabolism (HP:0010916)2.55058842
3911 pairs of ribs (HP:0000878)2.54656251
40Selective tooth agenesis (HP:0001592)2.54377285
41Reduced antithrombin III activity (HP:0001976)2.53707588
42Patellar aplasia (HP:0006443)2.53401185
43Exercise intolerance (HP:0003546)2.52463488
44Abnormality of the labia minora (HP:0012880)2.51297904
45Lactic acidosis (HP:0003128)2.48259488
46Abnormality of methionine metabolism (HP:0010901)2.44642700
47Supernumerary spleens (HP:0009799)2.43971542
48Aplasia/Hypoplasia of the uvula (HP:0010293)2.42511803
49Abnormal lung lobation (HP:0002101)2.40342232
50Rough bone trabeculation (HP:0100670)2.36005421
51Type I transferrin isoform profile (HP:0003642)2.32372692
52Aplasia/Hypoplasia of the patella (HP:0006498)2.30821266
53Carpal bone hypoplasia (HP:0001498)2.30071381
54Renal Fanconi syndrome (HP:0001994)2.29777906
55Multiple enchondromatosis (HP:0005701)2.28965071
56Premature graying of hair (HP:0002216)2.28755722
57Facial cleft (HP:0002006)2.26037083
58Pancreatic fibrosis (HP:0100732)2.23052202
593-Methylglutaconic aciduria (HP:0003535)2.22806460
60Absent thumb (HP:0009777)2.22631010
61Small intestinal stenosis (HP:0012848)2.21656627
62Duodenal stenosis (HP:0100867)2.21656627
63Sloping forehead (HP:0000340)2.19240978
64Hypoplasia of the capital femoral epiphysis (HP:0003090)2.17680648
65Microretrognathia (HP:0000308)2.15716650
66Cerebral edema (HP:0002181)2.15388169
67Pancreatic cysts (HP:0001737)2.15359616
68Irregular epiphyses (HP:0010582)2.14811854
69True hermaphroditism (HP:0010459)2.14213831
70Shoulder girdle muscle weakness (HP:0003547)2.13280194
71Neoplasm of the adrenal gland (HP:0100631)2.12494553
72Cholecystitis (HP:0001082)2.12274298
73Abnormal gallbladder physiology (HP:0012438)2.12274298
74Exercise-induced muscle cramps (HP:0003710)2.10744025
75Respiratory failure (HP:0002878)2.10424258
76Ependymoma (HP:0002888)2.07065690
77Macrocytic anemia (HP:0001972)2.06531177
78Absent radius (HP:0003974)2.03290098
79Bone marrow hypocellularity (HP:0005528)2.02985757
80Cortical dysplasia (HP:0002539)2.01301964
81Postnatal microcephaly (HP:0005484)2.01063500
82Neuroendocrine neoplasm (HP:0100634)2.00319110
83Nephroblastoma (Wilms tumor) (HP:0002667)1.98250852
84Emotional lability (HP:0000712)1.97931519
85Unsteady gait (HP:0002317)1.97669047
86Respiratory difficulties (HP:0002880)1.97462859
87Volvulus (HP:0002580)1.97392669
88Leukodystrophy (HP:0002415)1.95783535
89Neoplasm of the pancreas (HP:0002894)1.94767617
90Increased muscle lipid content (HP:0009058)1.94515471
91Horseshoe kidney (HP:0000085)1.93992598
92Myelodysplasia (HP:0002863)1.93521747
93Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.92529844
94Glioma (HP:0009733)1.92269941
95Embryonal renal neoplasm (HP:0011794)1.91968231
96Ragged-red muscle fibers (HP:0003200)1.91517614
97Hypoplasia of the pons (HP:0012110)1.91435265
98Aplasia involving forearm bones (HP:0009822)1.89665677
99Absent forearm bone (HP:0003953)1.89665677
100Exertional dyspnea (HP:0002875)1.88564417
101Abnormality of serum amino acid levels (HP:0003112)1.88192602
102Abnormality of the duodenum (HP:0002246)1.88119878
103Rhabdomyosarcoma (HP:0002859)1.87751543
104Pallor (HP:0000980)1.86933551
105Abnormality of the pons (HP:0007361)1.86408520
106Aplasia/Hypoplasia of the sternum (HP:0006714)1.86194111
107Agnosia (HP:0010524)1.85787968
108Megaloblastic anemia (HP:0001889)1.84298230
109Progressive muscle weakness (HP:0003323)1.84134275
110CNS hypomyelination (HP:0003429)1.83907116
111Lethargy (HP:0001254)1.83434305
112CNS demyelination (HP:0007305)1.83104508
113Neoplasm of the colon (HP:0100273)1.82980038
114Abnormal protein glycosylation (HP:0012346)1.82599589
115Abnormal glycosylation (HP:0012345)1.82599589
116Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.82599589
117Abnormal protein N-linked glycosylation (HP:0012347)1.82599589
118Pancytopenia (HP:0001876)1.80678381
119Methylmalonic acidemia (HP:0002912)1.80515602
120Impulsivity (HP:0100710)1.79587652
121Aplasia/Hypoplasia of the sacrum (HP:0008517)1.79251915
122Duplicated collecting system (HP:0000081)1.79045507
123Prominent metopic ridge (HP:0005487)1.75792109
124Increased nuchal translucency (HP:0010880)1.74563541
125Abnormality of the carotid arteries (HP:0005344)1.73771770
126Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.73536398
127Secondary amenorrhea (HP:0000869)1.72910587
128Rimmed vacuoles (HP:0003805)1.72611902
129Progressive external ophthalmoplegia (HP:0000590)1.72492452
130Abnormality of aspartate family amino acid metabolism (HP:0010899)1.71830668
131Abnormality of the astrocytes (HP:0100707)1.68828875
132Astrocytoma (HP:0009592)1.68828875
133Optic disc pallor (HP:0000543)1.66142328
134Nemaline bodies (HP:0003798)1.65323671

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.69351216
2WEE14.31946061
3CDC73.71363246
4VRK23.44666704
5EIF2AK13.31876624
6STK163.14587458
7BRSK22.99580255
8PASK2.76300560
9SRPK12.64934856
10ACVR1B2.60896931
11TSSK62.60827228
12EIF2AK32.58245634
13NEK12.52703016
14TRIM282.28364813
15BRSK12.08681075
16CCNB11.97480221
17TTK1.92596434
18PDK31.86029831
19PDK41.86029831
20VRK11.84075453
21PLK11.81914855
22PLK41.77504382
23PLK31.72020487
24TAF11.65870099
25NEK21.58866550
26DYRK31.51142691
27TESK21.48874573
28ATR1.48009521
29MKNK11.46893558
30TESK11.44687665
31TLK11.43571073
32NUAK11.39170925
33LIMK11.38979547
34AURKB1.36666091
35MAP4K21.34295743
36TGFBR11.32415321
37BCKDK1.30909971
38AURKA1.30148250
39BRAF1.30087832
40NME11.27864228
41CDK71.24801804
42CHEK21.22886286
43PNCK1.22662099
44NME21.20799818
45ZAK1.19650330
46CDK81.10162651
47RPS6KB21.07305385
48CHEK11.00738569
49PDK20.96146102
50BCR0.92606210
51SCYL20.91762968
52CSNK1G10.91138945
53CSNK1A1L0.89777713
54STK38L0.88587212
55FLT30.88335464
56CSNK1G20.83975439
57ERBB30.82062190
58BMPR1B0.81321267
59MKNK20.80218928
60DYRK20.77743503
61CSNK2A20.76257581
62PBK0.75971477
63CSNK2A10.75433883
64WNK30.74445402
65ATM0.72247711
66MAPKAPK50.70891005
67DAPK10.69692854
68EIF2AK20.67984742
69RPS6KA40.67603112
70PIM20.66795572
71MAP3K80.65890518
72CLK10.64411098
73PAK40.64166129
74MAP3K40.63461550
75AKT30.63340936
76MAP2K70.62792710
77MAPKAPK30.62726262
78ALK0.61862973
79CDK20.61305519
80PLK20.60454005
81CDK40.59420945
82MELK0.57232454
83CDK10.55041505
84MAP3K50.53818201
85MST40.51519393
86PRKCI0.51191965
87OBSCN0.50938316
88MAP3K120.50883693
89UHMK10.47216244
90PAK10.47049005
91CSNK1G30.44723902
92KDR0.40376078
93SIK30.39643154
94SMG10.39451817
95AKT20.38317256
96STK100.37602402
97CDK60.37344914
98CDK90.36917148
99EPHA20.36524280
100CDK140.36386464
101ERBB40.35458478
102CDK190.35107336
103ILK0.34695634
104MINK10.33984815
105STK40.33919392
106CDK180.33883454
107RAF10.32836386
108RPS6KB10.32298749
109RPS6KA50.30032596
110MAP3K110.29831472
111CDK11A0.29346145
112CDK150.29161504
113BRD40.28783746
114PRKDC0.28386419
115PHKG10.28385028
116PHKG20.28385028
117MYLK0.26296995
118MAPK130.25855281
119ARAF0.24763897
120CSNK1E0.23192085
121WNK40.21890324
122TAOK20.21489988
123YES10.19772418
124ADRBK20.17274141
125STK240.16931242

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.63071781
2Mismatch repair_Homo sapiens_hsa034304.19983022
3Proteasome_Homo sapiens_hsa030504.16316875
4Ribosome_Homo sapiens_hsa030103.21700149
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.21142495
6RNA polymerase_Homo sapiens_hsa030203.13895558
7Spliceosome_Homo sapiens_hsa030403.13057379
8Base excision repair_Homo sapiens_hsa034102.86581791
9Nucleotide excision repair_Homo sapiens_hsa034202.85425520
10Homologous recombination_Homo sapiens_hsa034402.84181793
11RNA transport_Homo sapiens_hsa030132.82881267
12Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.66662529
13Pyrimidine metabolism_Homo sapiens_hsa002402.44184362
14Protein export_Homo sapiens_hsa030602.41966244
15Cell cycle_Homo sapiens_hsa041102.40475922
16Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.19739763
17One carbon pool by folate_Homo sapiens_hsa006702.16597831
18Non-homologous end-joining_Homo sapiens_hsa034502.16089251
19Oxidative phosphorylation_Homo sapiens_hsa001902.07972591
20Basal transcription factors_Homo sapiens_hsa030222.07919185
21Parkinsons disease_Homo sapiens_hsa050122.06671181
22Fanconi anemia pathway_Homo sapiens_hsa034602.04059946
23RNA degradation_Homo sapiens_hsa030181.86787916
24Huntingtons disease_Homo sapiens_hsa050161.73286784
25mRNA surveillance pathway_Homo sapiens_hsa030151.50801184
26Purine metabolism_Homo sapiens_hsa002301.48591400
27Alzheimers disease_Homo sapiens_hsa050101.18471621
28Cysteine and methionine metabolism_Homo sapiens_hsa002701.06820740
29Oocyte meiosis_Homo sapiens_hsa041141.06600357
302-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.02008584
31Carbon metabolism_Homo sapiens_hsa012001.00160102
32Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.98049770
33Biosynthesis of amino acids_Homo sapiens_hsa012300.97147500
34Pyruvate metabolism_Homo sapiens_hsa006200.96598725
35Folate biosynthesis_Homo sapiens_hsa007900.94326239
36Selenocompound metabolism_Homo sapiens_hsa004500.94255221
37Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.93050388
38p53 signaling pathway_Homo sapiens_hsa041150.92075346
39Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.91308015
40Steroid biosynthesis_Homo sapiens_hsa001000.90340854
41Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.90115518
42Epstein-Barr virus infection_Homo sapiens_hsa051690.89470858
43Systemic lupus erythematosus_Homo sapiens_hsa053220.84562646
44Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.82508120
45Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.82414922
46N-Glycan biosynthesis_Homo sapiens_hsa005100.76354341
47Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.75604900
48Drug metabolism - other enzymes_Homo sapiens_hsa009830.71505300
49Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.69285795
50Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.68662932
51Vitamin B6 metabolism_Homo sapiens_hsa007500.68444288
52Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.67516728
53Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.64209379
54Glutathione metabolism_Homo sapiens_hsa004800.62825634
55Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.60154141
56Propanoate metabolism_Homo sapiens_hsa006400.58281522
57Cyanoamino acid metabolism_Homo sapiens_hsa004600.57610145
58Maturity onset diabetes of the young_Homo sapiens_hsa049500.57074137
59Pentose phosphate pathway_Homo sapiens_hsa000300.56694537
60Vibrio cholerae infection_Homo sapiens_hsa051100.56451881
61Fatty acid elongation_Homo sapiens_hsa000620.55993109
62Metabolic pathways_Homo sapiens_hsa011000.55641899
63Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.54361448
64Viral carcinogenesis_Homo sapiens_hsa052030.54213088
65Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.53747311
66Fatty acid metabolism_Homo sapiens_hsa012120.52055382
67Alcoholism_Homo sapiens_hsa050340.51095147
68Butanoate metabolism_Homo sapiens_hsa006500.49235898
69Cardiac muscle contraction_Homo sapiens_hsa042600.47581988
70Thyroid cancer_Homo sapiens_hsa052160.45579088
71Fructose and mannose metabolism_Homo sapiens_hsa000510.44937789
72Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.44181002
73Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.41648911
74SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33334812
75Regulation of autophagy_Homo sapiens_hsa041400.31082721
76HTLV-I infection_Homo sapiens_hsa051660.29296740
77Galactose metabolism_Homo sapiens_hsa000520.28914899
78Arginine and proline metabolism_Homo sapiens_hsa003300.28167453
79Antigen processing and presentation_Homo sapiens_hsa046120.24882378
80Herpes simplex infection_Homo sapiens_hsa051680.24617034
81Legionellosis_Homo sapiens_hsa051340.22156292
82Arachidonic acid metabolism_Homo sapiens_hsa005900.20389004
83Sulfur relay system_Homo sapiens_hsa041220.19756760
84Pentose and glucuronate interconversions_Homo sapiens_hsa000400.18212608
85beta-Alanine metabolism_Homo sapiens_hsa004100.18091590
86Renin-angiotensin system_Homo sapiens_hsa046140.17285120
87Caffeine metabolism_Homo sapiens_hsa002320.16214091
88Fatty acid degradation_Homo sapiens_hsa000710.14629421
89Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.13968567
90Tyrosine metabolism_Homo sapiens_hsa003500.10834104
91Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.08966373
92Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.08943675
93Shigellosis_Homo sapiens_hsa051310.08371181
94Sulfur metabolism_Homo sapiens_hsa009200.08227383
95Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.08146848
96Hippo signaling pathway_Homo sapiens_hsa043900.07196766
97TGF-beta signaling pathway_Homo sapiens_hsa043500.07057972
98Collecting duct acid secretion_Homo sapiens_hsa049660.06921562
99Linoleic acid metabolism_Homo sapiens_hsa005910.05152069
100Tryptophan metabolism_Homo sapiens_hsa003800.04294642
101Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.04019093
102Type I diabetes mellitus_Homo sapiens_hsa049400.03593165
103Glucagon signaling pathway_Homo sapiens_hsa049220.02892766
104Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.02777739
105Hedgehog signaling pathway_Homo sapiens_hsa043400.01811662
106Colorectal cancer_Homo sapiens_hsa052100.01573562
107Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.01057580
108Basal cell carcinoma_Homo sapiens_hsa052170.00719954
109Phenylalanine metabolism_Homo sapiens_hsa003600.00330719
110Phototransduction_Homo sapiens_hsa047440.00262847
111Lysine degradation_Homo sapiens_hsa003100.00077126
112Circadian rhythm_Homo sapiens_hsa04710-0.0595749
113Synaptic vesicle cycle_Homo sapiens_hsa04721-0.0480361
114Peroxisome_Homo sapiens_hsa04146-0.0409714
115Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.0108754

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