PSMB2

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 proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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 a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proteasome assembly (GO:0043248)5.75993496
2mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.45174004
3energy coupled proton transport, down electrochemical gradient (GO:0015985)5.07214739
4ATP synthesis coupled proton transport (GO:0015986)5.07214739
5* negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.88872488
6ribosomal small subunit assembly (GO:0000028)4.87299291
7ribosomal small subunit biogenesis (GO:0042274)4.53996986
8* positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.53433635
9DNA deamination (GO:0045006)4.52309901
10* negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.51842058
11* negative regulation of ligase activity (GO:0051352)4.51842058
12cullin deneddylation (GO:0010388)4.50474670
13maturation of SSU-rRNA (GO:0030490)4.44446134
14* regulation of cellular amino acid metabolic process (GO:0006521)4.44379430
15* regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.42815204
16* DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:004.33752994
17* anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:04.31810533
18protein deneddylation (GO:0000338)4.28057316
19* intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)4.25807540
20* signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)4.25807540
21* antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:4.25149103
22* signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)4.24625759
23* signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)4.24625759
24* signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)4.24625759
25protein neddylation (GO:0045116)4.23261239
26transcription elongation from RNA polymerase III promoter (GO:0006385)4.22833592
27termination of RNA polymerase III transcription (GO:0006386)4.22833592
28* signal transduction involved in DNA integrity checkpoint (GO:0072401)4.12391361
29* signal transduction involved in DNA damage checkpoint (GO:0072422)4.12391361
30viral transcription (GO:0019083)4.08083995
317-methylguanosine mRNA capping (GO:0006370)4.07600301
32* signal transduction involved in cell cycle checkpoint (GO:0072395)4.06581876
33translational termination (GO:0006415)4.02600711
347-methylguanosine RNA capping (GO:0009452)4.01878078
35RNA capping (GO:0036260)4.01878078
36* antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.99853055
37mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.99693195
38SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.99654247
39cotranslational protein targeting to membrane (GO:0006613)3.99067361
40formation of translation preinitiation complex (GO:0001731)3.98467409
41L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.96046786
42telomere maintenance via semi-conservative replication (GO:0032201)3.95462262
43protein targeting to ER (GO:0045047)3.92240397
44* positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.89884976
45DNA strand elongation involved in DNA replication (GO:0006271)3.85632752
46protein localization to endoplasmic reticulum (GO:0070972)3.78733285
47* positive regulation of ligase activity (GO:0051351)3.78581068
48translation (GO:0006412)3.77610024
49establishment of protein localization to mitochondrial membrane (GO:0090151)3.77418077
50chaperone-mediated protein transport (GO:0072321)3.76578185
51ribosomal large subunit biogenesis (GO:0042273)3.74693933
52deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.71987880
53chromatin remodeling at centromere (GO:0031055)3.71565300
54establishment of protein localization to endoplasmic reticulum (GO:0072599)3.70568238
55respiratory electron transport chain (GO:0022904)3.67786162
56DNA strand elongation (GO:0022616)3.66257321
57electron transport chain (GO:0022900)3.59109569
58mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.59058668
59mitochondrial respiratory chain complex I assembly (GO:0032981)3.59058668
60NADH dehydrogenase complex assembly (GO:0010257)3.59058668
61establishment of integrated proviral latency (GO:0075713)3.58454814
62regulation of mitochondrial translation (GO:0070129)3.57562794
63telomere maintenance via recombination (GO:0000722)3.57141288
64mitotic metaphase plate congression (GO:0007080)3.57000674
65translational elongation (GO:0006414)3.56600946
66pseudouridine synthesis (GO:0001522)3.52234221
67translational initiation (GO:0006413)3.52011951
68transcription-coupled nucleotide-excision repair (GO:0006283)3.51286619
69protein complex biogenesis (GO:0070271)3.50192941
70rRNA modification (GO:0000154)3.49893764
71ribonucleoprotein complex biogenesis (GO:0022613)3.48841427
72* regulation of ubiquitin-protein transferase activity (GO:0051438)3.46165352
73IMP biosynthetic process (GO:0006188)3.45159701
74nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.44528702
75spliceosomal snRNP assembly (GO:0000387)3.43144033
76* DNA damage response, signal transduction by p53 class mediator (GO:0030330)3.41104591
77* regulation of ligase activity (GO:0051340)3.38665831
78exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.38566666
79purine nucleobase biosynthetic process (GO:0009113)3.37662062
80DNA replication checkpoint (GO:0000076)3.37341464
81nucleobase biosynthetic process (GO:0046112)3.37011441
82* positive regulation of cell cycle arrest (GO:0071158)3.36439640
83transcription elongation from RNA polymerase I promoter (GO:0006362)3.34339722
84protein targeting to mitochondrion (GO:0006626)3.33006551
85termination of RNA polymerase I transcription (GO:0006363)3.32160697
86DNA damage response, detection of DNA damage (GO:0042769)3.31087948
87* regulation of cellular amine metabolic process (GO:0033238)3.30611016
88rRNA processing (GO:0006364)3.30517624
89protein localization to kinetochore (GO:0034501)3.30342782
90CENP-A containing nucleosome assembly (GO:0034080)3.30290055
91* antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)3.29990116
92protein localization to mitochondrion (GO:0070585)3.29718933
93establishment of protein localization to mitochondrion (GO:0072655)3.29550900
94viral life cycle (GO:0019058)3.29121607
95cellular component biogenesis (GO:0044085)3.27420165
96transcription from RNA polymerase I promoter (GO:0006360)3.27103313
97ribosome assembly (GO:0042255)3.26291681
98DNA replication initiation (GO:0006270)3.26233232
99mitochondrial respiratory chain complex assembly (GO:0033108)3.24892631
100oxidative phosphorylation (GO:0006119)3.24566554
101mitotic sister chromatid segregation (GO:0000070)3.24359196
102* cell cycle G1/S phase transition (GO:0044843)3.24193618
103* G1/S transition of mitotic cell cycle (GO:0000082)3.24193618
104cellular protein complex disassembly (GO:0043624)3.23740104
105rRNA metabolic process (GO:0016072)3.22568462
106L-methionine salvage (GO:0071267)3.20503199
107L-methionine biosynthetic process (GO:0071265)3.20503199
108amino acid salvage (GO:0043102)3.20503199
109GTP biosynthetic process (GO:0006183)3.17859070
110respiratory chain complex IV assembly (GO:0008535)3.17623742
111establishment of viral latency (GO:0019043)3.16543939
112maturation of 5.8S rRNA (GO:0000460)3.13068493
113nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.08444615
114mitotic recombination (GO:0006312)3.08304157
115inner mitochondrial membrane organization (GO:0007007)3.08207837
116rRNA methylation (GO:0031167)3.07064812
117histone exchange (GO:0043486)3.05961637
118ATP biosynthetic process (GO:0006754)3.05287277
119purine nucleoside triphosphate biosynthetic process (GO:0009145)3.02578564
120metaphase plate congression (GO:0051310)3.02566618

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.94471192
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.54019291
3E2F7_22180533_ChIP-Seq_HELA_Human4.53232907
4* EST1_17652178_ChIP-ChIP_JURKAT_Human4.26292532
5* MYC_18555785_ChIP-Seq_MESCs_Mouse4.15721042
6* JARID1A_20064375_ChIP-Seq_MESCs_Mouse4.11594544
7SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.82573499
8NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.74410788
9EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.72455065
10* ETS1_20019798_ChIP-Seq_JURKAT_Human3.68125931
11CREB1_15753290_ChIP-ChIP_HEK293T_Human3.62181658
12E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.25333745
13CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.23122112
14HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.18553302
15* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.09231180
16* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.93076088
17CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.85021165
18MYC_19030024_ChIP-ChIP_MESCs_Mouse2.82440712
19VDR_23849224_ChIP-Seq_CD4+_Human2.71882138
20MYC_19079543_ChIP-ChIP_MESCs_Mouse2.68390855
21ELF1_17652178_ChIP-ChIP_JURKAT_Human2.68177109
22E2F4_17652178_ChIP-ChIP_JURKAT_Human2.53012219
23SRF_21415370_ChIP-Seq_HL-1_Mouse2.48583980
24E2F1_18555785_ChIP-Seq_MESCs_Mouse2.42888765
25DCP1A_22483619_ChIP-Seq_HELA_Human2.42741880
26PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.37536195
27* XRN2_22483619_ChIP-Seq_HELA_Human2.36899503
28THAP11_20581084_ChIP-Seq_MESCs_Mouse2.35992366
29* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.29412298
30FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.24865250
31FOXP3_21729870_ChIP-Seq_TREG_Human2.23409967
32ELK1_19687146_ChIP-ChIP_HELA_Human2.20247598
33YY1_21170310_ChIP-Seq_MESCs_Mouse2.14657476
34GABP_19822575_ChIP-Seq_HepG2_Human2.10165136
35FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.01169684
36* TTF2_22483619_ChIP-Seq_HELA_Human1.98894970
37HOXB4_20404135_ChIP-ChIP_EML_Mouse1.84610048
38SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.80587359
39ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.78447551
40* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.76617006
41* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.66663288
42POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.63202300
43MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.62467663
44YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.61455940
45MYCN_18555785_ChIP-Seq_MESCs_Mouse1.58784628
46ELK1_22589737_ChIP-Seq_MCF10A_Human1.56834214
47FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.52584362
48HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.51293063
49TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.49810218
50CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.49761891
51NANOG_18555785_ChIP-Seq_MESCs_Mouse1.49448670
52TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.45040208
53* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.40305069
54* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.35334472
55AR_21909140_ChIP-Seq_LNCAP_Human1.34471902
56KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.32972668
57CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.26503701
58MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.26212866
59ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.24451282
60POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.23158146
61BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.23115126
62PADI4_21655091_ChIP-ChIP_MCF-7_Human1.21876761
63MYC_18940864_ChIP-ChIP_HL60_Human1.17558392
64* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.17218460
65SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.16711645
66FOXM1_23109430_ChIP-Seq_U2OS_Human1.16671567
67CIITA_25753668_ChIP-Seq_RAJI_Human1.15898083
68E2F1_21310950_ChIP-Seq_MCF-7_Human1.09264535
69* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.09070072
70KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.08438960
71* KDM5A_27292631_Chip-Seq_BREAST_Human1.04019259
72SOX17_20123909_ChIP-Seq_XEN_Mouse1.01975212
73RBPJ_22232070_ChIP-Seq_NCS_Mouse1.01196671
74TFEB_21752829_ChIP-Seq_HELA_Human1.00181966
75NANOG_16153702_ChIP-ChIP_HESCs_Human0.99391818
76DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.94160666
77* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.94119554
78SPI1_23547873_ChIP-Seq_NB4_Human0.93015870
79NOTCH1_21737748_ChIP-Seq_TLL_Human0.92975100
80CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.92323572
81IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.89728506
82IRF1_19129219_ChIP-ChIP_H3396_Human0.88579401
83ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.86970974
84HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.86826104
85SOX2_16153702_ChIP-ChIP_HESCs_Human0.85600243
86FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81905164
87SOX2_18555785_ChIP-Seq_MESCs_Mouse0.81191624
88* SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.80759959
89* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.80594053
90DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.79471749
91EWS_26573619_Chip-Seq_HEK293_Human0.79185509
92* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.77566524
93PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.76381586
94CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.76353064
95CTCF_18555785_ChIP-Seq_MESCs_Mouse0.76222969
96BP1_19119308_ChIP-ChIP_Hs578T_Human0.76203094
97HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.75920584
98TP63_19390658_ChIP-ChIP_HaCaT_Human0.74964737
99* STAT3_1855785_ChIP-Seq_MESCs_Mouse0.74963391
100POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.74004584
101IRF8_21731497_ChIP-ChIP_J774_Mouse0.72488824
102TBX5_21415370_ChIP-Seq_HL-1_Mouse0.72228617
103KLF4_18555785_ChIP-Seq_MESCs_Mouse0.71961800
104CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.71485774
105CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.71125608
106SOX2_18692474_ChIP-Seq_MEFs_Mouse0.70975886
107OCT4_18692474_ChIP-Seq_MEFs_Mouse0.70967101
108VDR_22108803_ChIP-Seq_LS180_Human0.69591822
109EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.68408719
110ESR1_15608294_ChIP-ChIP_MCF-7_Human0.67966982
111SRY_22984422_ChIP-ChIP_TESTIS_Rat0.67098366
112ZNF274_21170338_ChIP-Seq_K562_Hela0.66296411
113NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.66293288
114ELF5_23300383_ChIP-Seq_T47D_Human0.65880574
115* TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.62079320

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching4.84363646
2MP0004957_abnormal_blastocyst_morpholog4.07241286
3MP0010094_abnormal_chromosome_stability3.42441893
4MP0008057_abnormal_DNA_replication3.39874475
5MP0008058_abnormal_DNA_repair3.18918259
6MP0003077_abnormal_cell_cycle3.16254900
7MP0008932_abnormal_embryonic_tissue3.09331738
8MP0003111_abnormal_nucleus_morphology3.04539850
9MP0003806_abnormal_nucleotide_metabolis2.99111382
10MP0003186_abnormal_redox_activity2.87677211
11MP0003718_maternal_effect2.68720895
12MP0009379_abnormal_foot_pigmentation2.68593257
13MP0003786_premature_aging2.52675095
14MP0001529_abnormal_vocalization2.40755802
15MP0008007_abnormal_cellular_replicative2.33501564
16MP0008877_abnormal_DNA_methylation2.07906101
17MP0001905_abnormal_dopamine_level2.06461822
18MP0006036_abnormal_mitochondrial_physio2.03530373
19MP0003123_paternal_imprinting1.98293156
20MP0009333_abnormal_splenocyte_physiolog1.97920015
21MP0003941_abnormal_skin_development1.79891531
22MP0004147_increased_porphyrin_level1.71645537
23MP0000372_irregular_coat_pigmentation1.64356168
24MP0000566_synostosis1.57560450
25MP0008260_abnormal_autophagy1.55969495
26MP0002938_white_spotting1.47421980
27MP0005408_hypopigmentation1.47420135
28MP0006035_abnormal_mitochondrial_morpho1.46189653
29MP0002163_abnormal_gland_morphology1.45455278
30MP0001730_embryonic_growth_arrest1.43239018
31MP0001293_anophthalmia1.43048861
32MP0002132_abnormal_respiratory_system1.40647206
33MP0006072_abnormal_retinal_apoptosis1.40161125
34MP0006292_abnormal_olfactory_placode1.39740492
35MP0008789_abnormal_olfactory_epithelium1.38141534
36MP0009697_abnormal_copulation1.37590207
37MP0003315_abnormal_perineum_morphology1.35477731
38MP0003136_yellow_coat_color1.33841173
39MP0001986_abnormal_taste_sensitivity1.33454338
40MP0002148_abnormal_hypersensitivity_rea1.30548994
41MP0001853_heart_inflammation1.26701217
42MP0001727_abnormal_embryo_implantation1.25768277
43MP0002396_abnormal_hematopoietic_system1.24378219
44MP0000350_abnormal_cell_proliferation1.23304459
45MP0001542_abnormal_bone_strength1.21554296
46MP0009785_altered_susceptibility_to1.20557156
47MP0000313_abnormal_cell_death1.19898231
48MP0005075_abnormal_melanosome_morpholog1.18365766
49MP0001835_abnormal_antigen_presentation1.15944303
50MP0002837_dystrophic_cardiac_calcinosis1.15292687
51MP0002210_abnormal_sex_determination1.13327300
52MP0002160_abnormal_reproductive_system1.09325035
53MP0002085_abnormal_embryonic_tissue1.07861271
54MP0000358_abnormal_cell_content/1.06404779
55MP0003937_abnormal_limbs/digits/tail_de1.05632412
56MP0000490_abnormal_crypts_of1.05430657
57MP0002638_abnormal_pupillary_reflex1.04988330
58MP0002751_abnormal_autonomic_nervous1.04351272
59MP0005671_abnormal_response_to1.04244078
60MP0001764_abnormal_homeostasis1.01981449
61MP0005389_reproductive_system_phenotype1.00903080
62MP0010030_abnormal_orbit_morphology0.99301391
63MP0002234_abnormal_pharynx_morphology0.97965963
64MP0002102_abnormal_ear_morphology0.94599076
65MP0002736_abnormal_nociception_after0.93501782
66MP0001881_abnormal_mammary_gland0.92976910
67MP0008875_abnormal_xenobiotic_pharmacok0.92706920
68MP0002084_abnormal_developmental_patter0.92613385
69MP0001697_abnormal_embryo_size0.92091595
70MP0001145_abnormal_male_reproductive0.91597800
71MP0003724_increased_susceptibility_to0.88721482
72MP0003950_abnormal_plasma_membrane0.88713464
73MP0006054_spinal_hemorrhage0.88612131
74MP0004381_abnormal_hair_follicle0.88490780
75MP0002019_abnormal_tumor_incidence0.87993919
76MP0003984_embryonic_growth_retardation0.87205113
77MP0002080_prenatal_lethality0.86805831
78MP0003763_abnormal_thymus_physiology0.85917061
79MP0005332_abnormal_amino_acid0.85893903
80MP0001286_abnormal_eye_development0.84981645
81MP0002088_abnormal_embryonic_growth/wei0.84554479
82MP0001346_abnormal_lacrimal_gland0.83193284
83MP0000049_abnormal_middle_ear0.82519935
84MP0005379_endocrine/exocrine_gland_phen0.81452129
85MP0000631_abnormal_neuroendocrine_gland0.80063767
86MP0000653_abnormal_sex_gland0.78920099
87MP0005451_abnormal_body_composition0.78781419
88MP0005395_other_phenotype0.78017011
89MP0005394_taste/olfaction_phenotype0.76956931
90MP0005499_abnormal_olfactory_system0.76956931
91MP0010307_abnormal_tumor_latency0.76935938
92MP0001929_abnormal_gametogenesis0.76335478
93MP0002722_abnormal_immune_system0.76223247
94MP0002697_abnormal_eye_size0.75791715
95MP0005171_absent_coat_pigmentation0.75624229
96MP0008872_abnormal_physiological_respon0.75186980
97MP0003221_abnormal_cardiomyocyte_apopto0.75078121
98MP0005025_abnormal_response_to0.74138908
99MP0002398_abnormal_bone_marrow0.73586483
100MP0003656_abnormal_erythrocyte_physiolo0.73563395
101MP0000749_muscle_degeneration0.73185823
102MP0000647_abnormal_sebaceous_gland0.73119043
103MP0000689_abnormal_spleen_morphology0.73101933
104MP0002429_abnormal_blood_cell0.73013580
105MP0005266_abnormal_metabolism0.72660765
106MP0003567_abnormal_fetal_cardiomyocyte0.72560229
107MP0005000_abnormal_immune_tolerance0.71923462
108MP0002282_abnormal_trachea_morphology0.71473176
109MP0005253_abnormal_eye_physiology0.70784301
110MP0002095_abnormal_skin_pigmentation0.70305380
111MP0006276_abnormal_autonomic_nervous0.70091456
112MP0003121_genomic_imprinting0.69145215
113MP0005409_darkened_coat_color0.68642267
114MP0002233_abnormal_nose_morphology0.68049902
115MP0009672_abnormal_birth_weight0.67270048
116MP0002723_abnormal_immune_serum0.65852490
117MP0003938_abnormal_ear_development0.65613019
118MP0008995_early_reproductive_senescence0.65275175
119MP0001188_hyperpigmentation0.64962373
120MP0004133_heterotaxia0.64510545
121MP0000716_abnormal_immune_system0.64455675
122MP0001672_abnormal_embryogenesis/_devel0.64027990
123MP0005380_embryogenesis_phenotype0.64027990
124MP0002111_abnormal_tail_morphology0.63954757
125MP0001919_abnormal_reproductive_system0.63837081
126MP0001119_abnormal_female_reproductive0.63208846
127MP0002420_abnormal_adaptive_immunity0.63070491
128MP0001819_abnormal_immune_cell0.62661732
129MP0005670_abnormal_white_adipose0.62222254
130MP0003119_abnormal_digestive_system0.62194432
131MP0004142_abnormal_muscle_tone0.61771443
132MP0002277_abnormal_respiratory_mucosa0.60897639
133MP0000703_abnormal_thymus_morphology0.57568102
134MP0002090_abnormal_vision0.57016730
135MP0005084_abnormal_gallbladder_morpholo0.57009096
136MP0005636_abnormal_mineral_homeostasis0.56997439
137MP0002452_abnormal_antigen_presenting0.56924810
138MP0003011_delayed_dark_adaptation0.56894427

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.40805859
2Mitochondrial inheritance (HP:0001427)5.01072889
3Abnormal mitochondria in muscle tissue (HP:0008316)4.84685769
4Hepatocellular necrosis (HP:0001404)4.62382432
5Increased CSF lactate (HP:0002490)4.43561143
6Increased hepatocellular lipid droplets (HP:0006565)4.27028198
7Progressive macrocephaly (HP:0004481)4.23217257
8Hepatic necrosis (HP:0002605)4.22450986
9Abnormality of cells of the erythroid lineage (HP:0012130)4.22233233
10Acute encephalopathy (HP:0006846)4.22091126
113-Methylglutaconic aciduria (HP:0003535)4.17148746
12Abnormal number of erythroid precursors (HP:0012131)4.05276902
13Increased serum pyruvate (HP:0003542)4.04053833
14Abnormality of glycolysis (HP:0004366)4.04053833
15Birth length less than 3rd percentile (HP:0003561)3.87174779
16Lipid accumulation in hepatocytes (HP:0006561)3.82656719
17Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.78444341
18Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.68213164
19Cerebral hypomyelination (HP:0006808)3.67690774
20Reticulocytopenia (HP:0001896)3.65635517
21Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.62031190
22Decreased activity of mitochondrial respiratory chain (HP:0008972)3.62031190
23Increased serum lactate (HP:0002151)3.52755548
24Renal Fanconi syndrome (HP:0001994)3.45150759
25Exertional dyspnea (HP:0002875)3.22120914
26Breast hypoplasia (HP:0003187)3.15401458
27Exercise intolerance (HP:0003546)3.12539316
28Aplastic anemia (HP:0001915)3.12251752
29Respiratory failure (HP:0002878)3.07244845
30Lactic acidosis (HP:0003128)3.02187931
31Macrocytic anemia (HP:0001972)3.01641253
32Type I transferrin isoform profile (HP:0003642)2.99978055
33Increased intramyocellular lipid droplets (HP:0012240)2.94602836
34Rough bone trabeculation (HP:0100670)2.89265959
35Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.87454237
36Leukodystrophy (HP:0002415)2.79159341
37Cerebral edema (HP:0002181)2.75185802
38Respiratory difficulties (HP:0002880)2.69630625
39Oral leukoplakia (HP:0002745)2.69534649
40Abnormality of methionine metabolism (HP:0010901)2.66446003
41Aplasia/Hypoplasia of the sacrum (HP:0008517)2.65140420
42Parakeratosis (HP:0001036)2.63156195
43Pallor (HP:0000980)2.56675026
44Carpal bone hypoplasia (HP:0001498)2.47210581
45Increased muscle lipid content (HP:0009058)2.44831377
46Aplasia/Hypoplasia of the uvula (HP:0010293)2.44178061
47CNS demyelination (HP:0007305)2.41214779
48Optic disc pallor (HP:0000543)2.36697490
49Degeneration of anterior horn cells (HP:0002398)2.36051776
50Abnormality of the anterior horn cell (HP:0006802)2.36051776
51Poor head control (HP:0002421)2.33072847
52Irregular epiphyses (HP:0010582)2.31786102
53Generalized aminoaciduria (HP:0002909)2.30957135
54Microvesicular hepatic steatosis (HP:0001414)2.29344088
55Methylmalonic acidemia (HP:0002912)2.25452855
56Lethargy (HP:0001254)2.25169400
57Secondary amenorrhea (HP:0000869)2.25039436
58Abnormal trabecular bone morphology (HP:0100671)2.23098484
59Premature graying of hair (HP:0002216)2.20298468
60Abnormality of the labia minora (HP:0012880)2.18592575
61Pancytopenia (HP:0001876)2.18086495
62CNS hypomyelination (HP:0003429)2.16490742
63Abnormality of renal resorption (HP:0011038)2.14972089
64Congenital ichthyosiform erythroderma (HP:0007431)2.14421358
65Methylmalonic aciduria (HP:0012120)2.11435739
66Emotional lability (HP:0000712)2.11165161
67Abnormality of aspartate family amino acid metabolism (HP:0010899)2.11142900
68Abnormality of chromosome stability (HP:0003220)2.10835684
69Type 2 muscle fiber atrophy (HP:0003554)2.09028001
70Abnormal protein glycosylation (HP:0012346)2.08522447
71Abnormal glycosylation (HP:0012345)2.08522447
72Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.08522447
73Abnormal protein N-linked glycosylation (HP:0012347)2.08522447
74Small intestinal stenosis (HP:0012848)2.05089269
75Duodenal stenosis (HP:0100867)2.05089269
76Microretrognathia (HP:0000308)2.02955055
77Abnormal lung lobation (HP:0002101)2.02728525
78Abnormality of serum amino acid levels (HP:0003112)1.98504601
79Multiple enchondromatosis (HP:0005701)1.98081439
80Megaloblastic anemia (HP:0001889)1.97069309
81Stenosis of the external auditory canal (HP:0000402)1.93872240
82Postnatal microcephaly (HP:0005484)1.93845096
83Abnormality of the preputium (HP:0100587)1.93168819
8411 pairs of ribs (HP:0000878)1.92480344
85Muscle fiber atrophy (HP:0100295)1.90448914
86Patellar aplasia (HP:0006443)1.90066025
87Aplasia/hypoplasia of the uterus (HP:0008684)1.89815084
88Chromsome breakage (HP:0040012)1.89703745
89Prolonged neonatal jaundice (HP:0006579)1.89021154
90Meckel diverticulum (HP:0002245)1.88978655
91Bone marrow hypocellularity (HP:0005528)1.87597747
92Sparse eyelashes (HP:0000653)1.86883764
93Colon cancer (HP:0003003)1.86361994
94X-linked dominant inheritance (HP:0001423)1.84508650
95Hypoplasia of the capital femoral epiphysis (HP:0003090)1.84278162
96Chromosomal breakage induced by crosslinking agents (HP:0003221)1.84235241
97Absent radius (HP:0003974)1.83900544
98Abnormality of the ileum (HP:0001549)1.83570400
99Reduced antithrombin III activity (HP:0001976)1.83291418
100Abnormality of urine glucose concentration (HP:0011016)1.82015231
101Glycosuria (HP:0003076)1.82015231
102Trismus (HP:0000211)1.81997555
103Aplasia/Hypoplasia of the patella (HP:0006498)1.81956762
104Congenital, generalized hypertrichosis (HP:0004540)1.80902089
105Triphalangeal thumb (HP:0001199)1.80574914
106Premature ovarian failure (HP:0008209)1.79775335
107Abnormality of the duodenum (HP:0002246)1.79076833
108Cellular immunodeficiency (HP:0005374)1.77805375
109Abnormality of the heme biosynthetic pathway (HP:0010472)1.75851016
110Absent thumb (HP:0009777)1.75700071
111Abnormality of alanine metabolism (HP:0010916)1.75620567
112Hyperalaninemia (HP:0003348)1.75620567
113Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.75620567
114Hyperglycinemia (HP:0002154)1.74834093
115Testicular atrophy (HP:0000029)1.74503286
116Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.74241526
117Pendular nystagmus (HP:0012043)1.73779263
118Abnormal gallbladder physiology (HP:0012438)1.73705390
119Cholecystitis (HP:0001082)1.73705390
120Abnormality of sulfur amino acid metabolism (HP:0004339)1.73220723
121Horseshoe kidney (HP:0000085)1.73019384
122Abnormality of placental membranes (HP:0011409)1.71584963
123Amniotic constriction ring (HP:0009775)1.71584963
124Cleft eyelid (HP:0000625)1.71564146
125Abnormal number of incisors (HP:0011064)1.70248871
126Gout (HP:0001997)1.69516872
127Myelodysplasia (HP:0002863)1.69129900

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.27158405
2VRK24.68313214
3STK164.00852911
4WEE13.30451518
5EIF2AK13.19576964
6NME23.13422291
7PBK2.73802713
8EIF2AK32.65818569
9VRK12.57733660
10NME12.26653892
11SRPK12.25333239
12PLK42.15456737
13TESK22.05073047
14PIM21.99198191
15MST41.90818438
16TSSK61.89681749
17LIMK11.80055373
18CDC71.79955871
19TAF11.79602755
20TRIM281.73746610
21BRSK21.64238284
22ACVR1B1.64011915
23NUAK11.60478299
24ARAF1.54352914
25KDR1.52329073
26ZAK1.45166990
27MKNK11.40883797
28BCR1.37621401
29TESK11.36489477
30TLK11.29045458
31DYRK21.28506523
32PDK21.23765247
33PLK11.20550658
34PLK31.20290398
35IRAK41.16895543
36BRAF1.16161497
37CDK81.15366972
38CCNB11.11797038
39MYLK1.11069511
40IRAK31.09201924
41AURKA1.07562551
42BCKDK1.05191361
43PASK1.05006959
44MAP3K121.04381948
45DYRK31.02384550
46ABL20.97281100
47AURKB0.96690832
48EIF2AK20.93153785
49TTK0.92140930
50BRSK10.90981690
51BMPR1B0.90305910
52MAP4K20.86236143
53RPS6KB20.84727982
54OBSCN0.82130301
55DAPK10.78367239
56CDK70.77974470
57ADRBK20.77865772
58CSNK2A10.77303331
59ATR0.75324745
60WNK30.74641121
61EPHA20.73388527
62CDK190.72168939
63RPS6KA50.72073247
64STK390.70409834
65PAK10.67432190
66BLK0.67124059
67CSNK1G10.66199099
68MKNK20.64507651
69TXK0.64401504
70ALK0.63419410
71CSNK2A20.62716521
72ILK0.62353810
73MAP3K110.59793962
74NEK10.59362330
75CSNK1G30.58389622
76CHEK20.57583739
77CSNK1A1L0.56663583
78ATM0.56176664
79MAPKAPK50.55510455
80OXSR10.54687912
81TNIK0.54286509
82TEC0.53651461
83CLK10.53316500
84GRK10.51988172
85MUSK0.51856272
86INSRR0.50182403
87CSNK1G20.49367379
88STK100.49008153
89STK40.48886666
90PRKCI0.48647557
91PNCK0.47853087
92GRK70.47818437
93IRAK20.47469096
94PLK20.47084124
95PAK40.44973942
96RPS6KA40.43821922
97IRAK10.43624396
98WNK40.43247292
99TGFBR10.43173324
100MAP3K80.43133703
101NEK60.42974096
102SCYL20.42879081
103SMG10.42499471
104IKBKB0.42000659
105LYN0.40955796
106CDK90.40727211
107CSNK1E0.40420750
108CDK10.40159645
109ERBB40.38654742
110DAPK30.38228224
111CHEK10.37934870
112STK240.37840929
113BMPR20.36293670
114NEK20.35177317
115MAP3K30.34610690
116STK30.33680223
117SIK30.33485802
118CDK20.33350977
119FLT30.33337959
120MET0.32712799
121PIM10.31773684
122BTK0.31140193
123CDK180.30483349
124CDK11A0.29604188
125CDK140.28890288
126LRRK20.28744435
127ZAP700.28094972
128MAP4K10.27657897
129NLK0.27445294
130MST1R0.27433077
131YES10.26858144
132CDK150.25900784

Predicted pathways (KEGG)

RankGene SetZ-score
1* Proteasome_Homo sapiens_hsa030505.27166958
2Ribosome_Homo sapiens_hsa030104.23662778
3RNA polymerase_Homo sapiens_hsa030203.80296619
4DNA replication_Homo sapiens_hsa030303.46168252
5Oxidative phosphorylation_Homo sapiens_hsa001903.45336700
6Parkinsons disease_Homo sapiens_hsa050123.06993561
7Protein export_Homo sapiens_hsa030603.03639065
8Mismatch repair_Homo sapiens_hsa034303.00698054
9Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.73537420
10Spliceosome_Homo sapiens_hsa030402.54322381
11Pyrimidine metabolism_Homo sapiens_hsa002402.50657182
12Homologous recombination_Homo sapiens_hsa034402.37824464
13Huntingtons disease_Homo sapiens_hsa050162.31857642
14Nucleotide excision repair_Homo sapiens_hsa034202.31226593
15Base excision repair_Homo sapiens_hsa034102.11167972
16RNA transport_Homo sapiens_hsa030132.01338546
17Alzheimers disease_Homo sapiens_hsa050102.00250983
18Basal transcription factors_Homo sapiens_hsa030221.86837487
19Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.79490943
20Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.68445195
21Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.66738916
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.54276264
23Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.51129978
24RNA degradation_Homo sapiens_hsa030181.46723680
25Non-homologous end-joining_Homo sapiens_hsa034501.46006419
26Cell cycle_Homo sapiens_hsa041101.45816694
27Purine metabolism_Homo sapiens_hsa002301.41659016
28Fanconi anemia pathway_Homo sapiens_hsa034601.40003685
29One carbon pool by folate_Homo sapiens_hsa006701.17120016
302-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.14006228
31Fatty acid elongation_Homo sapiens_hsa000621.10065020
32Folate biosynthesis_Homo sapiens_hsa007901.06891268
33Propanoate metabolism_Homo sapiens_hsa006401.06867420
34Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.05172470
35Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.03747727
36Selenocompound metabolism_Homo sapiens_hsa004501.01102173
37SNARE interactions in vesicular transport_Homo sapiens_hsa041301.00286539
38Glutathione metabolism_Homo sapiens_hsa004800.99851102
39Epstein-Barr virus infection_Homo sapiens_hsa051690.97450167
40Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.97158889
41Steroid biosynthesis_Homo sapiens_hsa001000.95102863
42Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.88933083
43Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.87437795
44Cardiac muscle contraction_Homo sapiens_hsa042600.83082248
45Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.78586350
46p53 signaling pathway_Homo sapiens_hsa041150.71868012
47Regulation of autophagy_Homo sapiens_hsa041400.70602089
48Metabolic pathways_Homo sapiens_hsa011000.67874041
49Pentose phosphate pathway_Homo sapiens_hsa000300.66580231
50Arachidonic acid metabolism_Homo sapiens_hsa005900.66155323
51Cysteine and methionine metabolism_Homo sapiens_hsa002700.65410523
52mRNA surveillance pathway_Homo sapiens_hsa030150.64211759
53Asthma_Homo sapiens_hsa053100.63327979
54Collecting duct acid secretion_Homo sapiens_hsa049660.63319975
55Vibrio cholerae infection_Homo sapiens_hsa051100.62859318
56Vitamin B6 metabolism_Homo sapiens_hsa007500.60193781
57Allograft rejection_Homo sapiens_hsa053300.58825788
58Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.56345132
59Drug metabolism - other enzymes_Homo sapiens_hsa009830.56224809
60Graft-versus-host disease_Homo sapiens_hsa053320.53550179
61Butanoate metabolism_Homo sapiens_hsa006500.51833692
62Pentose and glucuronate interconversions_Homo sapiens_hsa000400.51692116
63Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.50977810
64Rheumatoid arthritis_Homo sapiens_hsa053230.50242971
65Peroxisome_Homo sapiens_hsa041460.49428242
66Legionellosis_Homo sapiens_hsa051340.48312986
67Autoimmune thyroid disease_Homo sapiens_hsa053200.43722699
68Maturity onset diabetes of the young_Homo sapiens_hsa049500.43365404
69Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.42325366
70Ether lipid metabolism_Homo sapiens_hsa005650.41236800
71Linoleic acid metabolism_Homo sapiens_hsa005910.40707238
72Sulfur metabolism_Homo sapiens_hsa009200.39992418
73Antigen processing and presentation_Homo sapiens_hsa046120.38914260
74Carbon metabolism_Homo sapiens_hsa012000.37903184
75Herpes simplex infection_Homo sapiens_hsa051680.37799784
76Systemic lupus erythematosus_Homo sapiens_hsa053220.37559683
77N-Glycan biosynthesis_Homo sapiens_hsa005100.37469984
78Phagosome_Homo sapiens_hsa041450.35830350
79Sphingolipid metabolism_Homo sapiens_hsa006000.35732971
80Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.35719353
81Primary immunodeficiency_Homo sapiens_hsa053400.35586665
82Arginine and proline metabolism_Homo sapiens_hsa003300.35107039
83Fatty acid metabolism_Homo sapiens_hsa012120.32807706
84Sulfur relay system_Homo sapiens_hsa041220.31687196
85Tryptophan metabolism_Homo sapiens_hsa003800.31683444
86Fructose and mannose metabolism_Homo sapiens_hsa000510.31001409
87Cyanoamino acid metabolism_Homo sapiens_hsa004600.30665084
88Intestinal immune network for IgA production_Homo sapiens_hsa046720.29630630
89Vitamin digestion and absorption_Homo sapiens_hsa049770.28454395
90Caffeine metabolism_Homo sapiens_hsa002320.28004160
91Biosynthesis of amino acids_Homo sapiens_hsa012300.27959502
92Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.27846843
93Chemical carcinogenesis_Homo sapiens_hsa052040.27783714
94Shigellosis_Homo sapiens_hsa051310.27766406
95Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.27355238
96Oocyte meiosis_Homo sapiens_hsa041140.27119638
97Pyruvate metabolism_Homo sapiens_hsa006200.24801751
98Fatty acid degradation_Homo sapiens_hsa000710.24516420
99beta-Alanine metabolism_Homo sapiens_hsa004100.24038657
100Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.23661542
101Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.23140546
102Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.22779807
103Tyrosine metabolism_Homo sapiens_hsa003500.20640561
104Type I diabetes mellitus_Homo sapiens_hsa049400.20519364
105Fat digestion and absorption_Homo sapiens_hsa049750.20518896
106Phototransduction_Homo sapiens_hsa047440.20372534
107Viral carcinogenesis_Homo sapiens_hsa052030.19657491
108Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.19580446
109Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.19076045
110Other glycan degradation_Homo sapiens_hsa005110.18469801
111NOD-like receptor signaling pathway_Homo sapiens_hsa046210.17869055
112Phenylalanine metabolism_Homo sapiens_hsa003600.17656415
113Galactose metabolism_Homo sapiens_hsa000520.17290727
114Hematopoietic cell lineage_Homo sapiens_hsa046400.16980202
115Retinol metabolism_Homo sapiens_hsa008300.16755512
116alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.16109118
117Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.14120228
118Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.14028621
119Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.13358446
120Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.13339815
121Primary bile acid biosynthesis_Homo sapiens_hsa001200.12995383
122Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.10345549
123Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.10200649
124RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.09341848
125Basal cell carcinoma_Homo sapiens_hsa052170.09191144
126Pertussis_Homo sapiens_hsa051330.08692546
127Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.08389111
128Measles_Homo sapiens_hsa051620.08181251
129Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.05492203

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