PSMD4

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 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proteasome assembly (GO:0043248)5.18299207
2formation of translation preinitiation complex (GO:0001731)4.94815414
3maturation of SSU-rRNA (GO:0030490)4.54483729
4* negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.52642892
5nucleobase biosynthetic process (GO:0046112)4.42345115
6purine nucleobase biosynthetic process (GO:0009113)4.40220119
7ribosome assembly (GO:0042255)4.39225474
8* positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.32889942
9* anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:04.32352224
10* regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.27665457
11DNA deamination (GO:0045006)4.24179720
12chaperone-mediated protein transport (GO:0072321)4.18095630
13* negative regulation of ligase activity (GO:0051352)4.16873072
14* negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.16873072
15establishment of integrated proviral latency (GO:0075713)4.09294147
16ribosomal large subunit biogenesis (GO:0042273)4.07481717
17respiratory electron transport chain (GO:0022904)4.07200389
18DNA strand elongation involved in DNA replication (GO:0006271)4.05311517
19* regulation of cellular amino acid metabolic process (GO:0006521)4.02336319
20electron transport chain (GO:0022900)3.97288406
21ribosomal small subunit biogenesis (GO:0042274)3.95583382
22ribosome biogenesis (GO:0042254)3.93165477
23mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.91258103
24ribonucleoprotein complex biogenesis (GO:0022613)3.89953704
25* DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.88910437
26peptidyl-arginine omega-N-methylation (GO:0035247)3.86290891
27* positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.85105493
28viral transcription (GO:0019083)3.82969059
29* signal transduction involved in DNA integrity checkpoint (GO:0072401)3.81780733
30* signal transduction involved in DNA damage checkpoint (GO:0072422)3.81780733
31* intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.81549874
32* signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.81549874
33* signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.80511283
34* signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.80511283
35* signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.80511283
36translational termination (GO:0006415)3.79019312
37DNA replication initiation (GO:0006270)3.78738279
38DNA strand elongation (GO:0022616)3.77893329
39establishment of protein localization to mitochondrial membrane (GO:0090151)3.77036785
40translational initiation (GO:0006413)3.76805711
41folic acid metabolic process (GO:0046655)3.74750860
42* signal transduction involved in cell cycle checkpoint (GO:0072395)3.74585830
43cullin deneddylation (GO:0010388)3.70899662
44mitotic metaphase plate congression (GO:0007080)3.70700595
45telomere maintenance via semi-conservative replication (GO:0032201)3.70111893
46* positive regulation of ligase activity (GO:0051351)3.65069859
47establishment of viral latency (GO:0019043)3.63856361
48protein targeting to mitochondrion (GO:0006626)3.63088514
49deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.62927509
50protein deneddylation (GO:0000338)3.60360918
51translational elongation (GO:0006414)3.59735764
52ribosomal small subunit assembly (GO:0000028)3.57403743
53spliceosomal snRNP assembly (GO:0000387)3.57095542
54L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.55541922
55nucleobase-containing small molecule interconversion (GO:0015949)3.54685347
56mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.54606765
57rRNA processing (GO:0006364)3.53464052
58protein maturation by protein folding (GO:0022417)3.48800055
59* regulation of cellular amine metabolic process (GO:0033238)3.48002949
60* antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.47322157
61* regulation of ubiquitin-protein transferase activity (GO:0051438)3.47299899
62rRNA modification (GO:0000154)3.46572918
63folic acid-containing compound biosynthetic process (GO:0009396)3.46260152
64histone arginine methylation (GO:0034969)3.43886356
657-methylguanosine mRNA capping (GO:0006370)3.43318049
66DNA replication checkpoint (GO:0000076)3.42421311
67DNA replication-dependent nucleosome organization (GO:0034723)3.40171648
68DNA replication-dependent nucleosome assembly (GO:0006335)3.40171648
69rRNA metabolic process (GO:0016072)3.39767941
70establishment of protein localization to mitochondrion (GO:0072655)3.39631618
71L-methionine salvage (GO:0071267)3.39184112
72L-methionine biosynthetic process (GO:0071265)3.39184112
73amino acid salvage (GO:0043102)3.39184112
74translation (GO:0006412)3.36880994
75DNA unwinding involved in DNA replication (GO:0006268)3.35943582
76* regulation of ligase activity (GO:0051340)3.32117580
777-methylguanosine RNA capping (GO:0009452)3.31692151
78RNA capping (GO:0036260)3.31692151
79protein localization to mitochondrion (GO:0070585)3.30541291
80regulation of mitochondrial translation (GO:0070129)3.29504473
81protein localization to kinetochore (GO:0034501)3.28192724
82telomere maintenance via recombination (GO:0000722)3.27447813
83* G1/S transition of mitotic cell cycle (GO:0000082)3.25714721
84* cell cycle G1/S phase transition (GO:0044843)3.25714721
85* antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.23735740
86termination of RNA polymerase III transcription (GO:0006386)3.22512735
87transcription elongation from RNA polymerase III promoter (GO:0006385)3.22512735
88* negative regulation of protein ubiquitination (GO:0031397)3.22456364
89cellular component biogenesis (GO:0044085)3.20999213
90transcription-coupled nucleotide-excision repair (GO:0006283)3.20550591
91inner mitochondrial membrane organization (GO:0007007)3.20013440
92IMP biosynthetic process (GO:0006188)3.19058128
93SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.18610591
94* positive regulation of cell cycle arrest (GO:0071158)3.18528357
95viral mRNA export from host cell nucleus (GO:0046784)3.16255700
96pseudouridine synthesis (GO:0001522)3.14754627
97nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.14092254
98cotranslational protein targeting to membrane (GO:0006613)3.13487423
99regulation of spindle organization (GO:0090224)3.12207536
100guanosine-containing compound biosynthetic process (GO:1901070)3.12003621
101* negative regulation of protein modification by small protein conjugation or removal (GO:1903321)3.11453859
102protein targeting to ER (GO:0045047)3.11064894
103cellular protein complex disassembly (GO:0043624)3.10179684
104peptidyl-arginine methylation (GO:0018216)3.09983400
105peptidyl-arginine N-methylation (GO:0035246)3.09983400
106mitotic recombination (GO:0006312)3.09892768
107ATP synthesis coupled proton transport (GO:0015986)3.09867719
108energy coupled proton transport, down electrochemical gradient (GO:0015985)3.09867719
109tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.09578674
110RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.09578674
111* signal transduction in response to DNA damage (GO:0042770)3.09160583
112viral life cycle (GO:0019058)3.07218775
113mitotic nuclear envelope disassembly (GO:0007077)3.06873060
114chaperone-mediated protein complex assembly (GO:0051131)3.04373224
115* DNA damage response, signal transduction by p53 class mediator (GO:0030330)3.02649518
116pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.02151731
117protein complex biogenesis (GO:0070271)3.01429195
118metaphase plate congression (GO:0051310)3.00514183
119telomere maintenance via telomere lengthening (GO:0010833)2.99717040
120IMP metabolic process (GO:0046040)2.98323330
121protein localization to endoplasmic reticulum (GO:0070972)2.98038247
122oxidative phosphorylation (GO:0006119)2.96177101
123CENP-A containing nucleosome assembly (GO:0034080)2.95811584
124mitochondrial respiratory chain complex assembly (GO:0033108)2.95463819
125regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.94602729
126de novo posttranslational protein folding (GO:0051084)2.94593633
127establishment of protein localization to endoplasmic reticulum (GO:0072599)2.94345362
128maturation of 5.8S rRNA (GO:0000460)2.93390154
129transcription elongation from RNA polymerase I promoter (GO:0006362)2.92743803

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.36376895
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.18239781
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.01869971
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.58989865
5* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.39726527
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.39256762
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.35900435
8* ETS1_20019798_ChIP-Seq_JURKAT_Human3.35691351
9CREB1_15753290_ChIP-ChIP_HEK293T_Human3.21142098
10MYC_18358816_ChIP-ChIP_MESCs_Mouse2.98625890
11MYC_19079543_ChIP-ChIP_MESCs_Mouse2.96789979
12NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.89371930
13E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.89029166
14MYC_19030024_ChIP-ChIP_MESCs_Mouse2.80610391
15FOXM1_23109430_ChIP-Seq_U2OS_Human2.73823446
16E2F4_17652178_ChIP-ChIP_JURKAT_Human2.65442425
17HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.58053866
18FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.48231095
19XRN2_22483619_ChIP-Seq_HELA_Human2.46558569
20CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.43274714
21* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.39543094
22VDR_23849224_ChIP-Seq_CD4+_Human2.28355607
23E2F1_18555785_ChIP-Seq_MESCs_Mouse2.22638673
24MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.17518371
25DCP1A_22483619_ChIP-Seq_HELA_Human2.14219645
26* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.03221847
27GABP_19822575_ChIP-Seq_HepG2_Human2.00937477
28THAP11_20581084_ChIP-Seq_MESCs_Mouse1.97542142
29SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.94105490
30FOXP3_21729870_ChIP-Seq_TREG_Human1.90496828
31ELF1_17652178_ChIP-ChIP_JURKAT_Human1.90200253
32NANOG_18555785_ChIP-Seq_MESCs_Mouse1.89982182
33CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.89326356
34POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.88739976
35AR_21909140_ChIP-Seq_LNCAP_Human1.87406192
36YY1_21170310_ChIP-Seq_MESCs_Mouse1.86007551
37TTF2_22483619_ChIP-Seq_HELA_Human1.78853437
38MYCN_18555785_ChIP-Seq_MESCs_Mouse1.72370830
39MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.68722480
40ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.67452201
41SRF_21415370_ChIP-Seq_HL-1_Mouse1.66429296
42TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.61313978
43POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.58005563
44STAT3_1855785_ChIP-Seq_MESCs_Mouse1.57921068
45PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.56624814
46* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.52693911
47ELK1_19687146_ChIP-ChIP_HELA_Human1.51915219
48PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.49009717
49KDM5A_27292631_Chip-Seq_BREAST_Human1.43813263
50* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.41085111
51CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.40186615
52YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.40168879
53SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.37390382
54FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.36732198
55CIITA_25753668_ChIP-Seq_RAJI_Human1.35504792
56TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.32772711
57POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.32283500
58E2F1_21310950_ChIP-Seq_MCF-7_Human1.29940372
59ESR1_15608294_ChIP-ChIP_MCF-7_Human1.29794867
60PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.28528753
61KLF4_18555785_ChIP-Seq_MESCs_Mouse1.26990946
62* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.24933489
63KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.24233244
64BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.24216579
65ZNF263_19887448_ChIP-Seq_K562_Human1.21309345
66TFEB_21752829_ChIP-Seq_HELA_Human1.19902719
67ELK1_22589737_ChIP-Seq_MCF10A_Human1.18608234
68CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.17058214
69CTCF_18555785_ChIP-Seq_MESCs_Mouse1.16639892
70HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.15379923
71FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.15256863
72DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.14889778
73NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.11397528
74OCT4_18692474_ChIP-Seq_MEFs_Mouse1.11325753
75ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.08999024
76KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.08885785
77PADI4_21655091_ChIP-ChIP_MCF-7_Human1.07461322
78CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.06850569
79SRY_22984422_ChIP-ChIP_TESTIS_Rat1.06405359
80ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.05189510
81SOX2_18692474_ChIP-Seq_MEFs_Mouse1.03996605
82KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.03788466
83TET1_21451524_ChIP-Seq_MESCs_Mouse1.02617862
84FOXP1_21924763_ChIP-Seq_HESCs_Human1.01204760
85ERG_20887958_ChIP-Seq_HPC-7_Mouse1.01195225
86SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.00327499
87SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.99567029
88SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.99049745
89E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.98923559
90ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.98166227
91CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.97203881
92SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.96974385
93CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.96972999
94TCF3_18692474_ChIP-Seq_MEFs_Mouse0.96833356
95* TBX5_21415370_ChIP-Seq_HL-1_Mouse0.96790553
96TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.96302287
97CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.95235743
98SOX2_18555785_ChIP-Seq_MESCs_Mouse0.95200713
99NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.94251243
100CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.91688914
101* CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.91688615
102* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.91014947
103HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.89141262
104SOX17_20123909_ChIP-Seq_XEN_Mouse0.88953493
105YY1_22570637_ChIP-Seq_MALME-3M_Human0.88525680
106NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.88108046
107TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.86198931
108MYC_18940864_ChIP-ChIP_HL60_Human0.83852818
109CTCF_26484167_Chip-Seq_Bcells_Mouse0.83245744
110NANOG_21062744_ChIP-ChIP_HESCs_Human0.81470284
111MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.81443198
112MYC_22102868_ChIP-Seq_BL_Human0.80566155
113CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.79077042

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.96561641
2MP0004957_abnormal_blastocyst_morpholog4.73361506
3MP0003111_abnormal_nucleus_morphology4.37137739
4MP0003806_abnormal_nucleotide_metabolis4.01304574
5MP0010094_abnormal_chromosome_stability3.95248219
6MP0003077_abnormal_cell_cycle3.83962756
7MP0003718_maternal_effect3.00850716
8MP0008058_abnormal_DNA_repair2.93887799
9* MP0008932_abnormal_embryonic_tissue2.87702538
10MP0001730_embryonic_growth_arrest2.55595015
11MP0008057_abnormal_DNA_replication2.29389403
12MP0009840_abnormal_foam_cell2.24235466
13MP0003786_premature_aging2.24021940
14MP0008007_abnormal_cellular_replicative2.17567765
15MP0003123_paternal_imprinting2.08548869
16MP0006292_abnormal_olfactory_placode2.08537306
17MP0009697_abnormal_copulation2.08174934
18MP0003186_abnormal_redox_activity2.00774633
19MP0008260_abnormal_autophagy1.94449802
20MP0000350_abnormal_cell_proliferation1.93065035
21MP0000372_irregular_coat_pigmentation1.89406546
22MP0006036_abnormal_mitochondrial_physio1.87374380
23MP0006035_abnormal_mitochondrial_morpho1.85805601
24MP0000358_abnormal_cell_content/1.73823563
25MP0010352_gastrointestinal_tract_polyps1.72191026
26MP0000750_abnormal_muscle_regeneration1.71855645
27MP0002877_abnormal_melanocyte_morpholog1.63742302
28MP0001697_abnormal_embryo_size1.62185972
29MP0005408_hypopigmentation1.61645720
30* MP0002080_prenatal_lethality1.59620673
31MP0003221_abnormal_cardiomyocyte_apopto1.56700322
32* MP0001672_abnormal_embryogenesis/_devel1.55659491
33* MP0005380_embryogenesis_phenotype1.55659491
34MP0008789_abnormal_olfactory_epithelium1.46205152
35MP0003315_abnormal_perineum_morphology1.45710240
36MP0008877_abnormal_DNA_methylation1.45687745
37MP0001727_abnormal_embryo_implantation1.45505952
38MP0005058_abnormal_lysosome_morphology1.42905414
39* MP0003984_embryonic_growth_retardation1.37977036
40* MP0002088_abnormal_embryonic_growth/wei1.36182684
41MP0002269_muscular_atrophy1.35286074
42MP0000313_abnormal_cell_death1.32072578
43MP0010307_abnormal_tumor_latency1.30904680
44MP0002085_abnormal_embryonic_tissue1.30151438
45MP0005451_abnormal_body_composition1.23312077
46MP0002019_abnormal_tumor_incidence1.23035781
47MP0009333_abnormal_splenocyte_physiolog1.22073300
48MP0001346_abnormal_lacrimal_gland1.20990875
49MP0003136_yellow_coat_color1.16116868
50MP0002139_abnormal_hepatobiliary_system1.15369696
51MP0008995_early_reproductive_senescence1.14421372
52MP0002160_abnormal_reproductive_system1.14227722
53MP0004084_abnormal_cardiac_muscle1.12655410
54MP0003656_abnormal_erythrocyte_physiolo1.09595445
55MP0005075_abnormal_melanosome_morpholog1.08799605
56MP0003646_muscle_fatigue1.07710488
57MP0005395_other_phenotype1.07508986
58MP0010030_abnormal_orbit_morphology1.07083009
59MP0002132_abnormal_respiratory_system1.07060915
60MP0002086_abnormal_extraembryonic_tissu1.06988951
61MP0001881_abnormal_mammary_gland1.05175075
62MP0003567_abnormal_fetal_cardiomyocyte1.04515734
63* MP0002084_abnormal_developmental_patter1.03886368
64MP0002210_abnormal_sex_determination1.03112929
65MP0000747_muscle_weakness1.01183954
66MP0002396_abnormal_hematopoietic_system0.99843071
67MP0000490_abnormal_crypts_of0.99656138
68MP0004197_abnormal_fetal_growth/weight/0.98217924
69MP0005330_cardiomyopathy0.96279139
70MP0005266_abnormal_metabolism0.96000438
71MP0001145_abnormal_male_reproductive0.95215551
72MP0005499_abnormal_olfactory_system0.94440105
73MP0005394_taste/olfaction_phenotype0.94440105
74MP0005023_abnormal_wound_healing0.93855410
75MP0008875_abnormal_xenobiotic_pharmacok0.93334989
76MP0001529_abnormal_vocalization0.90603881
77MP0005384_cellular_phenotype0.90180043
78MP0000749_muscle_degeneration0.88128471
79MP0005389_reproductive_system_phenotype0.87492329
80MP0001929_abnormal_gametogenesis0.86695751
81MP0003941_abnormal_skin_development0.86589259
82MP0000343_altered_response_to0.85463216
83MP0009053_abnormal_anal_canal0.85343898
84MP0001764_abnormal_homeostasis0.85301285
85MP0005501_abnormal_skin_physiology0.84998449
86MP0005332_abnormal_amino_acid0.82434571
87MP0003705_abnormal_hypodermis_morpholog0.81956364
88MP0002090_abnormal_vision0.81467455
89MP0002938_white_spotting0.81018016
90MP0001905_abnormal_dopamine_level0.79986167
91MP0008873_increased_physiological_sensi0.79375764
92MP0000537_abnormal_urethra_morphology0.78634959
93MP0000653_abnormal_sex_gland0.77892216
94MP0001661_extended_life_span0.77800039
95MP0002095_abnormal_skin_pigmentation0.77703326
96MP0001542_abnormal_bone_strength0.76984731
97MP0003119_abnormal_digestive_system0.76366132
98MP0003191_abnormal_cellular_cholesterol0.74706236
99MP0002653_abnormal_ependyma_morphology0.74519995
100MP0005621_abnormal_cell_physiology0.74342923
101MP0004133_heterotaxia0.73520917
102MP0001853_heart_inflammation0.72862766
103MP0003566_abnormal_cell_adhesion0.72077282
104MP0005377_hearing/vestibular/ear_phenot0.68387672
105MP0003878_abnormal_ear_physiology0.68387672
106MP0001186_pigmentation_phenotype0.67592981
107MP0002697_abnormal_eye_size0.66421071
108MP0001243_abnormal_dermal_layer0.66071401
109MP0009672_abnormal_birth_weight0.65541627
110MP0001293_anophthalmia0.65475132
111MP0005171_absent_coat_pigmentation0.64450260
112MP0005319_abnormal_enzyme/_coenzyme0.62676330
113MP0000598_abnormal_liver_morphology0.62610709
114MP0002822_catalepsy0.62419042
115MP0002111_abnormal_tail_morphology0.60382520
116MP0002722_abnormal_immune_system0.60244462
117MP0000858_altered_metastatic_potential0.59886797
118MP0003938_abnormal_ear_development0.59618965
119MP0002796_impaired_skin_barrier0.59487838
120MP0002277_abnormal_respiratory_mucosa0.59034233
121MP0004233_abnormal_muscle_weight0.57645994
122MP0000049_abnormal_middle_ear0.57537629
123MP0000627_abnormal_mammary_gland0.57514231
124MP0000751_myopathy0.57145648
125MP0000689_abnormal_spleen_morphology0.56000894
126MP0004145_abnormal_muscle_electrophysio0.55882136
127MP0005083_abnormal_biliary_tract0.55606594
128MP0004147_increased_porphyrin_level0.54532662
129MP0005397_hematopoietic_system_phenotyp0.54040814
130MP0001545_abnormal_hematopoietic_system0.54040814
131MP0009379_abnormal_foot_pigmentation0.53989937
132MP0005584_abnormal_enzyme/coenzyme_acti0.53861594
133MP0002751_abnormal_autonomic_nervous0.52857783
134MP0002736_abnormal_nociception_after0.52645719
135MP0001849_ear_inflammation0.50777293

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)4.29522850
2Cerebral hypomyelination (HP:0006808)4.29426971
3Breast hypoplasia (HP:0003187)4.14781432
4Abnormality of cells of the erythroid lineage (HP:0012130)4.04463754
5Microvesicular hepatic steatosis (HP:0001414)3.93150257
6Carpal bone hypoplasia (HP:0001498)3.73188462
7Abnormal number of erythroid precursors (HP:0012131)3.73056705
8Increased serum pyruvate (HP:0003542)3.68260404
9Abnormality of glycolysis (HP:0004366)3.68260404
10Oral leukoplakia (HP:0002745)3.58370880
11Rough bone trabeculation (HP:0100670)3.46974976
12Multiple enchondromatosis (HP:0005701)3.46450805
13Renal Fanconi syndrome (HP:0001994)3.44532130
14Acute necrotizing encephalopathy (HP:0006965)3.27255794
15Reticulocytopenia (HP:0001896)3.21539340
16Cholecystitis (HP:0001082)3.21497406
17Abnormal gallbladder physiology (HP:0012438)3.21497406
18Selective tooth agenesis (HP:0001592)3.19828535
19Premature ovarian failure (HP:0008209)3.18746760
20Hepatocellular necrosis (HP:0001404)3.15962753
21Ragged-red muscle fibers (HP:0003200)3.15597101
22Macrocytic anemia (HP:0001972)3.14105926
23Hepatic necrosis (HP:0002605)3.07998588
24Trismus (HP:0000211)3.06629338
25Abnormal mitochondria in muscle tissue (HP:0008316)3.05571554
26Mitochondrial inheritance (HP:0001427)3.05254117
27Type I transferrin isoform profile (HP:0003642)3.04828039
28Degeneration of anterior horn cells (HP:0002398)3.04202450
29Abnormality of the anterior horn cell (HP:0006802)3.04202450
30Increased CSF lactate (HP:0002490)3.02715273
31Secondary amenorrhea (HP:0000869)2.99492752
32Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.97546768
33Decreased activity of mitochondrial respiratory chain (HP:0008972)2.97546768
34Increased serum lactate (HP:0002151)2.89297145
35Acute encephalopathy (HP:0006846)2.78200040
36Microretrognathia (HP:0000308)2.75900049
37Patellar aplasia (HP:0006443)2.73956179
38Respiratory difficulties (HP:0002880)2.69376292
39Progressive muscle weakness (HP:0003323)2.67675318
40Testicular atrophy (HP:0000029)2.64473641
41Aplasia/Hypoplasia of the patella (HP:0006498)2.63737428
42CNS demyelination (HP:0007305)2.63137178
43CNS hypomyelination (HP:0003429)2.61111828
44Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.60648971
45Increased hepatocellular lipid droplets (HP:0006565)2.56741714
46Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.56318715
47Leukodystrophy (HP:0002415)2.54378221
48Abnormality of the umbilical cord (HP:0010881)2.53925995
49Cerebral edema (HP:0002181)2.52215520
50Abnormal trabecular bone morphology (HP:0100671)2.50462292
51Lipid accumulation in hepatocytes (HP:0006561)2.44338382
52Pancytopenia (HP:0001876)2.40974811
53Pallor (HP:0000980)2.38971275
54Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.38550726
55Abnormal protein N-linked glycosylation (HP:0012347)2.38550726
56Abnormal protein glycosylation (HP:0012346)2.38550726
57Abnormal glycosylation (HP:0012345)2.38550726
58Emotional lability (HP:0000712)2.37931973
59Rhabdomyolysis (HP:0003201)2.36762462
60Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.35664064
61Lactic acidosis (HP:0003128)2.35293563
62Absent radius (HP:0003974)2.33782981
63Exercise intolerance (HP:0003546)2.33314656
64Hypokinesia (HP:0002375)2.29972253
65Postnatal microcephaly (HP:0005484)2.29690814
66Progressive macrocephaly (HP:0004481)2.29439368
67Personality changes (HP:0000751)2.26539820
68Aplasia/Hypoplasia involving the musculature (HP:0001460)2.26155717
69Impulsivity (HP:0100710)2.25293077
70Ureteral duplication (HP:0000073)2.24742088
71Respiratory failure (HP:0002878)2.22436786
72Neoplasm of the pancreas (HP:0002894)2.20219715
73Nausea (HP:0002018)2.19020098
74Reduced antithrombin III activity (HP:0001976)2.16683973
75Abnormalities of placenta or umbilical cord (HP:0001194)2.16647752
763-Methylglutaconic aciduria (HP:0003535)2.16267540
77Delusions (HP:0000746)2.15430805
78Absent forearm bone (HP:0003953)2.15231142
79Aplasia involving forearm bones (HP:0009822)2.15231142
80Increased intramyocellular lipid droplets (HP:0012240)2.13589471
81Megaloblastic anemia (HP:0001889)2.13015499
82Lethargy (HP:0001254)2.12922855
83Sparse eyelashes (HP:0000653)2.12692613
84Optic disc pallor (HP:0000543)2.10689171
85Premature graying of hair (HP:0002216)2.09338096
86Entropion (HP:0000621)2.08437129
87Cellular immunodeficiency (HP:0005374)2.08262085
88Abnormality of pyrimidine metabolism (HP:0004353)2.07731357
89Horseshoe kidney (HP:0000085)2.05044145
90Colon cancer (HP:0003003)2.01559071
91Hyperglycinemia (HP:0002154)2.01452387
92Spastic paraparesis (HP:0002313)2.01066743
93Cholelithiasis (HP:0001081)2.00249800
94Death in infancy (HP:0001522)1.99570740
95Hypoplasia of the capital femoral epiphysis (HP:0003090)1.98360448
96Hypobetalipoproteinemia (HP:0003563)1.96424444
97Increased muscle lipid content (HP:0009058)1.96000471
98Muscle fiber splitting (HP:0003555)1.95861358
99Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.95435929
100Nemaline bodies (HP:0003798)1.95009337
101Calcaneovalgus deformity (HP:0001848)1.94999833
102Atrophy/Degeneration involving motor neurons (HP:0007373)1.93486887
103Abnormality of placental membranes (HP:0011409)1.92420158
104Amniotic constriction ring (HP:0009775)1.92420158
105Poor head control (HP:0002421)1.91748861
106Absent thumb (HP:0009777)1.91666114
107Muscle fiber inclusion bodies (HP:0100299)1.91466062
108Exertional dyspnea (HP:0002875)1.89879923
109Difficulty climbing stairs (HP:0003551)1.89330560
110Aplastic anemia (HP:0001915)1.88799973
111Chromosomal breakage induced by crosslinking agents (HP:0003221)1.87489828
112Fasciculations (HP:0002380)1.86781395
113Abnormality of reticulocytes (HP:0004312)1.86589423
114Areflexia of lower limbs (HP:0002522)1.86262026
115Glossoptosis (HP:0000162)1.85683094
116Abnormality of alanine metabolism (HP:0010916)1.85530994
117Hyperalaninemia (HP:0003348)1.85530994
118Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.85530994
119Unsteady gait (HP:0002317)1.85411983
120Ependymoma (HP:0002888)1.84875584
121Aplasia/Hypoplasia of the sacrum (HP:0008517)1.84485161
122Hyperammonemia (HP:0001987)1.79813225
123Opisthotonus (HP:0002179)1.79231262
124Meckel diverticulum (HP:0002245)1.78314721
125Generalized aminoaciduria (HP:0002909)1.78205783
126X-linked dominant inheritance (HP:0001423)1.76517469
127Cleft eyelid (HP:0000625)1.76052887
128Abnormality of dicarboxylic acid metabolism (HP:0010995)1.73482216
129Dicarboxylic aciduria (HP:0003215)1.73482216
130Neoplasm of head and neck (HP:0012288)1.72784880
131Esophageal neoplasm (HP:0100751)1.72784880
132Broad distal phalanx of finger (HP:0009836)1.72103956
133Facial cleft (HP:0002006)1.71643642
134Abnormal gallbladder morphology (HP:0012437)1.70123199
135Abnormality of the preputium (HP:0100587)1.69963214
136Myopathic facies (HP:0002058)1.66162614
137Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.65612761
138Spastic diplegia (HP:0001264)1.65174095

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB16.11278653
2VRK24.65160997
3WEE14.31349705
4EIF2AK13.43954675
5TESK22.79402904
6STK162.77449014
7EPHA22.73367037
8TSSK62.57033715
9CDC72.51597129
10PLK42.31255164
11TTK2.27523181
12NEK12.25800572
13NME22.25061963
14SRPK12.04089189
15NEK21.82343015
16EIF2AK31.75151355
17PLK11.71479892
18PNCK1.64875839
19SMG11.63399694
20BCKDK1.62430049
21ACVR1B1.60644063
22NME11.60561988
23RPS6KB21.57770105
24TESK11.50982547
25AURKA1.49498083
26PIM21.47433897
27IRAK31.46443168
28DYRK31.44547061
29BRSK21.41826359
30MAP3K121.39978224
31MAP3K111.37803314
32AURKB1.36390044
33TLK11.35505342
34BRAF1.35495973
35PDK31.34986021
36PDK41.34986021
37ARAF1.33172167
38MAP3K81.28917148
39PLK31.26642655
40ZAK1.26027486
41VRK11.20839039
42LIMK11.19175478
43MAPKAPK31.12955322
44KDR1.10590519
45PBK1.08033608
46CDK71.07920684
47PAK41.07406231
48TRIM281.05587623
49CDK81.05483115
50DAPK11.03490548
51BRSK10.98181217
52PAK10.97081092
53ATR0.96284406
54PDK20.93774837
55CHEK20.92925044
56LRRK20.92609170
57LATS20.91001942
58RPS6KA40.88387641
59PRKCI0.84033831
60CLK10.83492916
61CHEK10.81520443
62PASK0.79590126
63SIK30.77846084
64CDK40.77509404
65STK100.77411450
66MKNK10.74254012
67ILK0.71880986
68MST40.71671487
69OBSCN0.71391094
70STK40.71219865
71CSNK2A20.70991071
72ABL20.68260447
73CSNK2A10.67638753
74TAF10.66746921
75DYRK20.66512598
76MST1R0.65072281
77TTN0.63745054
78SCYL20.63176622
79STK38L0.59690641
80EEF2K0.57860950
81TGFBR10.57626939
82MAP2K70.56633094
83CSNK1A1L0.56507831
84PIM10.54680527
85CDK190.51694121
86CCNB10.51406351
87CDK180.49883792
88CDK20.49649129
89BCR0.48652259
90CDK150.46300549
91AKT30.44677033
92RPS6KA50.44648590
93CSNK1G20.42656876
94TRIB30.40629716
95DAPK30.40610218
96CSNK1G30.40236394
97CAMK2G0.39372431
98CSNK1E0.39267916
99RAF10.39072652
100BLK0.36853313
101CDK10.36602725
102TXK0.35732009
103MAP2K20.34714954
104ALK0.34654140
105ATM0.33908607
106TAOK20.32643267
107TBK10.32602292
108EIF2AK20.32200759
109MAP4K10.31138568
110MELK0.29430508
111MINK10.29427880
112ZAP700.28061652
113MAPKAPK50.27466889
114AKT20.27085654
115MAPKAPK20.26789572
116MAP3K50.26007475
117MUSK0.25756473
118CSNK1G10.24271125
119GRK60.22744247
120CDK11A0.20512883
121PKN20.20443462
122CDK140.20348758
123MYLK0.20136642
124MTOR0.19509630
125MKNK20.19468258

Predicted pathways (KEGG)

RankGene SetZ-score
1* Proteasome_Homo sapiens_hsa030505.03450223
2DNA replication_Homo sapiens_hsa030303.69562478
3Ribosome_Homo sapiens_hsa030103.68091328
4RNA polymerase_Homo sapiens_hsa030203.48565758
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.35911930
6Mismatch repair_Homo sapiens_hsa034303.19975485
7Spliceosome_Homo sapiens_hsa030402.78747190
8RNA transport_Homo sapiens_hsa030132.71326122
9Pyrimidine metabolism_Homo sapiens_hsa002402.43262448
10Nucleotide excision repair_Homo sapiens_hsa034202.41138592
11Base excision repair_Homo sapiens_hsa034102.39384610
12Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.38441705
13Homologous recombination_Homo sapiens_hsa034402.23856083
14One carbon pool by folate_Homo sapiens_hsa006702.05180410
15Oxidative phosphorylation_Homo sapiens_hsa001901.93113750
16Parkinsons disease_Homo sapiens_hsa050121.88790308
17Vitamin B6 metabolism_Homo sapiens_hsa007501.82462815
18Cell cycle_Homo sapiens_hsa041101.79999179
19Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.72571259
202-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.62916471
21Huntingtons disease_Homo sapiens_hsa050161.57633286
22Basal transcription factors_Homo sapiens_hsa030221.55039166
23Pentose phosphate pathway_Homo sapiens_hsa000301.50258069
24Folate biosynthesis_Homo sapiens_hsa007901.45459513
25Cysteine and methionine metabolism_Homo sapiens_hsa002701.43536221
26Biosynthesis of amino acids_Homo sapiens_hsa012301.43067756
27Carbon metabolism_Homo sapiens_hsa012001.40824208
28Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.37257613
29Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.35755401
30Purine metabolism_Homo sapiens_hsa002301.26938897
31RNA degradation_Homo sapiens_hsa030181.26689064
32Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.25191684
33Drug metabolism - other enzymes_Homo sapiens_hsa009831.21106191
34Fanconi anemia pathway_Homo sapiens_hsa034601.20360401
35Non-homologous end-joining_Homo sapiens_hsa034501.13492982
36p53 signaling pathway_Homo sapiens_hsa041151.12452310
37Glutathione metabolism_Homo sapiens_hsa004801.10790063
38Sulfur relay system_Homo sapiens_hsa041221.10499220
39* Epstein-Barr virus infection_Homo sapiens_hsa051691.05838178
40Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.05326343
41Fructose and mannose metabolism_Homo sapiens_hsa000511.03260460
42Alzheimers disease_Homo sapiens_hsa050100.97382110
43Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.96725937
44Pyruvate metabolism_Homo sapiens_hsa006200.95562268
45Sulfur metabolism_Homo sapiens_hsa009200.91820330
46mRNA surveillance pathway_Homo sapiens_hsa030150.91162006
47Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.91024573
48Systemic lupus erythematosus_Homo sapiens_hsa053220.89785325
49Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.88871118
50Protein export_Homo sapiens_hsa030600.85867943
51Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.84611771
52Selenocompound metabolism_Homo sapiens_hsa004500.84386956
53Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.84337122
54Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.83807989
55Cyanoamino acid metabolism_Homo sapiens_hsa004600.81545369
56Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.77124633
57N-Glycan biosynthesis_Homo sapiens_hsa005100.76288691
58Regulation of autophagy_Homo sapiens_hsa041400.70383260
59Arginine and proline metabolism_Homo sapiens_hsa003300.67543818
60Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.64516724
61Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.63923701
62Metabolic pathways_Homo sapiens_hsa011000.63851331
63Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.61644605
64Oocyte meiosis_Homo sapiens_hsa041140.60007546
65Antigen processing and presentation_Homo sapiens_hsa046120.57560387
66Viral carcinogenesis_Homo sapiens_hsa052030.55798784
67Propanoate metabolism_Homo sapiens_hsa006400.55385081
68Vibrio cholerae infection_Homo sapiens_hsa051100.54171751
69Galactose metabolism_Homo sapiens_hsa000520.53281113
70Phenylalanine metabolism_Homo sapiens_hsa003600.48257835
71Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.47417848
72Cardiac muscle contraction_Homo sapiens_hsa042600.46851145
73Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.43775535
74Fatty acid metabolism_Homo sapiens_hsa012120.42847498
75Tyrosine metabolism_Homo sapiens_hsa003500.41561182
76Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.40813478
77Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.39184357
78Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.34950222
79beta-Alanine metabolism_Homo sapiens_hsa004100.31967913
80Collecting duct acid secretion_Homo sapiens_hsa049660.28916944
81Chemical carcinogenesis_Homo sapiens_hsa052040.28841848
82Peroxisome_Homo sapiens_hsa041460.28302790
83Legionellosis_Homo sapiens_hsa051340.26882577
84Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.26799575
85Arginine biosynthesis_Homo sapiens_hsa002200.25544056
86Fatty acid elongation_Homo sapiens_hsa000620.23988092
87Fatty acid degradation_Homo sapiens_hsa000710.23663828
88Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.22941533
89Primary immunodeficiency_Homo sapiens_hsa053400.22926927
90Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.22721650
91Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.22677969
92Other glycan degradation_Homo sapiens_hsa005110.22517326
93Central carbon metabolism in cancer_Homo sapiens_hsa052300.22113415
94Bladder cancer_Homo sapiens_hsa052190.21530441
95HTLV-I infection_Homo sapiens_hsa051660.19888164
96Herpes simplex infection_Homo sapiens_hsa051680.17918674
97Glycerophospholipid metabolism_Homo sapiens_hsa005640.16924253
98Primary bile acid biosynthesis_Homo sapiens_hsa001200.16839352
99Thyroid cancer_Homo sapiens_hsa052160.16655382
100Arachidonic acid metabolism_Homo sapiens_hsa005900.16375443
101Pentose and glucuronate interconversions_Homo sapiens_hsa000400.16304171
102Caffeine metabolism_Homo sapiens_hsa002320.15271308
103Apoptosis_Homo sapiens_hsa042100.14942994
104Fat digestion and absorption_Homo sapiens_hsa049750.14804881
105Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.13384686
106Shigellosis_Homo sapiens_hsa051310.12864349
107Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.12621032
108Butanoate metabolism_Homo sapiens_hsa006500.11062805
109Tryptophan metabolism_Homo sapiens_hsa003800.10689669
110Steroid biosynthesis_Homo sapiens_hsa001000.10578725
111Linoleic acid metabolism_Homo sapiens_hsa005910.10468937
112Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.09869425
113SNARE interactions in vesicular transport_Homo sapiens_hsa041300.06718100
114Salmonella infection_Homo sapiens_hsa051320.06625544

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