PSMB1

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. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ribosomal small subunit assembly (GO:0000028)6.23575078
2viral transcription (GO:0019083)5.32108658
3translational termination (GO:0006415)5.21242900
4maturation of SSU-rRNA (GO:0030490)5.14611947
5proteasome assembly (GO:0043248)5.00038694
6establishment of protein localization to mitochondrial membrane (GO:0090151)4.97443552
7ribosomal small subunit biogenesis (GO:0042274)4.92747202
8SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.89659828
9chaperone-mediated protein transport (GO:0072321)4.83130079
10cotranslational protein targeting to membrane (GO:0006613)4.80976759
11protein targeting to ER (GO:0045047)4.77265778
12translational elongation (GO:0006414)4.76481931
13ribosomal large subunit biogenesis (GO:0042273)4.74425740
14formation of translation preinitiation complex (GO:0001731)4.57818567
15protein localization to endoplasmic reticulum (GO:0070972)4.56420015
16DNA deamination (GO:0045006)4.54497962
17* negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.54136222
18mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.51230153
19establishment of protein localization to endoplasmic reticulum (GO:0072599)4.51183505
20cullin deneddylation (GO:0010388)4.41720717
21translational initiation (GO:0006413)4.40114894
22establishment of integrated proviral latency (GO:0075713)4.30878058
23* positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.24853441
24protein deneddylation (GO:0000338)4.21363375
25viral life cycle (GO:0019058)4.18219609
26cellular protein complex disassembly (GO:0043624)4.17112322
27translation (GO:0006412)4.15655051
28* regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.14999284
29* negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.09890186
30* negative regulation of ligase activity (GO:0051352)4.09890186
31* regulation of cellular amino acid metabolic process (GO:0006521)4.07548958
32ATP synthesis coupled proton transport (GO:0015986)4.07135508
33energy coupled proton transport, down electrochemical gradient (GO:0015985)4.07135508
34* anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:04.05137240
35* DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:004.01645717
36nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.00859729
37* antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:4.00666081
38ribonucleoprotein complex biogenesis (GO:0022613)3.98261826
39telomere maintenance via semi-conservative replication (GO:0032201)3.94575585
40* signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.94429092
41* intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.94429092
42DNA strand elongation involved in DNA replication (GO:0006271)3.92714650
43mitochondrial respiratory chain complex assembly (GO:0033108)3.91646028
44* signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.91410039
45* signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.91410039
46* signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.91410039
47termination of RNA polymerase III transcription (GO:0006386)3.90256465
48transcription elongation from RNA polymerase III promoter (GO:0006385)3.90256465
49* signal transduction involved in DNA damage checkpoint (GO:0072422)3.83775769
50* signal transduction involved in DNA integrity checkpoint (GO:0072401)3.83775769
51* signal transduction involved in cell cycle checkpoint (GO:0072395)3.78746505
52* antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.78037687
53respiratory chain complex IV assembly (GO:0008535)3.75962473
54purine nucleobase biosynthetic process (GO:0009113)3.75779022
55* positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.75554744
56DNA strand elongation (GO:0022616)3.73268013
57protein targeting to mitochondrion (GO:0006626)3.71603383
58deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.71540463
59DNA replication checkpoint (GO:0000076)3.68686525
60nucleobase biosynthetic process (GO:0046112)3.65521133
61establishment of viral latency (GO:0019043)3.62031111
627-methylguanosine mRNA capping (GO:0006370)3.61450384
63* positive regulation of ligase activity (GO:0051351)3.60433356
64regulation of mitochondrial translation (GO:0070129)3.59873406
65spliceosomal snRNP assembly (GO:0000387)3.58417873
66telomere maintenance via recombination (GO:0000722)3.58188471
67* regulation of cellular amine metabolic process (GO:0033238)3.57947618
68protein complex disassembly (GO:0043241)3.57644440
69L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.56667083
70cellular component biogenesis (GO:0044085)3.55344142
717-methylguanosine RNA capping (GO:0009452)3.53759937
72RNA capping (GO:0036260)3.53759937
73macromolecular complex disassembly (GO:0032984)3.49068142
74cytochrome complex assembly (GO:0017004)3.48977468
75rRNA processing (GO:0006364)3.45259959
76establishment of protein localization to mitochondrion (GO:0072655)3.44603943
77protein localization to mitochondrion (GO:0070585)3.42417237
78* DNA damage response, signal transduction by p53 class mediator (GO:0030330)3.41590639
79pseudouridine synthesis (GO:0001522)3.40534684
80nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.39747658
81ribosome biogenesis (GO:0042254)3.39376207
82* negative regulation of protein ubiquitination (GO:0031397)3.38731062
83CENP-A containing nucleosome assembly (GO:0034080)3.37460717
84transcription-coupled nucleotide-excision repair (GO:0006283)3.36213406
85oxidative phosphorylation (GO:0006119)3.34696171
86rRNA modification (GO:0000154)3.34148501
87exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.33952027
88inner mitochondrial membrane organization (GO:0007007)3.33350050
89chromatin remodeling at centromere (GO:0031055)3.31982186
90rRNA metabolic process (GO:0016072)3.31678130
91viral mRNA export from host cell nucleus (GO:0046784)3.30914332
92tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.30906702
93RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.30906702
94DNA replication initiation (GO:0006270)3.30174198
95protein neddylation (GO:0045116)3.30123991
96* regulation of ubiquitin-protein transferase activity (GO:0051438)3.25937319
97mitotic recombination (GO:0006312)3.24919078
98nucleobase-containing small molecule interconversion (GO:0015949)3.23108439
99respiratory electron transport chain (GO:0022904)3.21811754
100DNA damage response, detection of DNA damage (GO:0042769)3.20745696
101guanosine-containing compound biosynthetic process (GO:1901070)3.19033924
102mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.17876517
103* positive regulation of cell cycle arrest (GO:0071158)3.17522559
104* negative regulation of protein modification by small protein conjugation or removal (GO:1903321)3.17445703
105mitochondrial respiratory chain complex I assembly (GO:0032981)3.17045832
106NADH dehydrogenase complex assembly (GO:0010257)3.17045832
107mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.17045832
108protein complex biogenesis (GO:0070271)3.16405452
109* antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)3.16015731
110* regulation of ligase activity (GO:0051340)3.15482876
111ribosome assembly (GO:0042255)3.15034307
112electron transport chain (GO:0022900)3.14415866
113spliceosomal complex assembly (GO:0000245)3.13601605
114* cell cycle G1/S phase transition (GO:0044843)3.12322853
115* G1/S transition of mitotic cell cycle (GO:0000082)3.12322853
116protein targeting to membrane (GO:0006612)3.11283223
117deoxyribose phosphate biosynthetic process (GO:0046385)3.09977928
1182-deoxyribonucleotide biosynthetic process (GO:0009265)3.09977928
119telomere maintenance via telomere lengthening (GO:0010833)3.09875957
120maturation of 5.8S rRNA (GO:0000460)3.09133787
121nuclear-transcribed mRNA catabolic process (GO:0000956)3.08162698
122deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.07737787
123purine nucleoside triphosphate biosynthetic process (GO:0009145)3.05131618
124* signal transduction in response to DNA damage (GO:0042770)3.04031370
125ATP biosynthetic process (GO:0006754)3.03847344

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.29689777
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.46659390
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.37741371
4* GABP_17652178_ChIP-ChIP_JURKAT_Human4.07157243
5EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.07074788
6EST1_17652178_ChIP-ChIP_JURKAT_Human3.83460532
7* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.80912350
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.48507897
9* CREB1_15753290_ChIP-ChIP_HEK293T_Human3.48176386
10NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.25773446
11* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.11251175
12HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.93686069
13* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.85208747
14MYC_19079543_ChIP-ChIP_MESCs_Mouse2.84940407
15SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.79788331
16CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.78444009
17VDR_23849224_ChIP-Seq_CD4+_Human2.66152961
18E2F4_17652178_ChIP-ChIP_JURKAT_Human2.59811333
19* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.59538294
20DCP1A_22483619_ChIP-Seq_HELA_Human2.52975751
21XRN2_22483619_ChIP-Seq_HELA_Human2.52004632
22ELF1_17652178_ChIP-ChIP_JURKAT_Human2.51923396
23* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.43781946
24FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.42394761
25E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.40597081
26* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.40360369
27FOXP3_21729870_ChIP-Seq_TREG_Human2.24519952
28CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.24208336
29SRF_21415370_ChIP-Seq_HL-1_Mouse2.15662589
30GABP_19822575_ChIP-Seq_HepG2_Human2.15273121
31ELK1_19687146_ChIP-ChIP_HELA_Human2.13253938
32* THAP11_20581084_ChIP-Seq_MESCs_Mouse2.12587608
33TTF2_22483619_ChIP-Seq_HELA_Human2.00821917
34YY1_21170310_ChIP-Seq_MESCs_Mouse2.00775986
35PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.97595232
36* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.94445192
37SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.92549970
38PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.89138681
39* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.83501976
40ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.81699191
41MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.70907445
42FOXM1_23109430_ChIP-Seq_U2OS_Human1.70887414
43TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.69093519
44POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.69077570
45FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.68805170
46TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.67493379
47MYCN_18555785_ChIP-Seq_MESCs_Mouse1.62285023
48ZFX_18555785_ChIP-Seq_MESCs_Mouse1.61715180
49MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.60357430
50ERG_20887958_ChIP-Seq_HPC-7_Mouse1.52917838
51RBPJ_22232070_ChIP-Seq_NCS_Mouse1.50681913
52NANOG_18555785_ChIP-Seq_MESCs_Mouse1.49819016
53* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.48980168
54* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.43828463
55* ELK1_22589737_ChIP-Seq_MCF10A_Human1.41212788
56SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.36659984
57E2F1_21310950_ChIP-Seq_MCF-7_Human1.35962627
58AR_21909140_ChIP-Seq_LNCAP_Human1.35958293
59CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.28501631
60KDM5A_27292631_Chip-Seq_BREAST_Human1.25850926
61MYC_18940864_ChIP-ChIP_HL60_Human1.25648042
62POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.24156137
63BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.23116957
64CIITA_25753668_ChIP-Seq_RAJI_Human1.20596638
65SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.20447251
66* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.19038564
67PADI4_21655091_ChIP-ChIP_MCF-7_Human1.19037904
68DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.16056040
69CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.14217700
70TFEB_21752829_ChIP-Seq_HELA_Human1.13473323
71ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.10572073
72KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.07771518
73STAT3_1855785_ChIP-Seq_MESCs_Mouse1.07466783
74MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.07439211
75CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.06459373
76HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.02874463
77E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.00584025
78CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.00294536
79SPI1_23547873_ChIP-Seq_NB4_Human0.98610047
80KLF4_18555785_ChIP-Seq_MESCs_Mouse0.97885635
81* HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.96653028
82* NANOG_16153702_ChIP-ChIP_HESCs_Human0.96375092
83POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.96154093
84GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.93349108
85IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.92882164
86ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.91566297
87SOX17_20123909_ChIP-Seq_XEN_Mouse0.90954941
88SOX2_18555785_ChIP-Seq_MESCs_Mouse0.88852536
89SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.88263182
90ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.87855151
91OCT4_18692474_ChIP-Seq_MEFs_Mouse0.85185427
92NOTCH1_21737748_ChIP-Seq_TLL_Human0.84484172
93KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.83890018
94DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.83781601
95HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.83637790
96PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.82706233
97TBX5_21415370_ChIP-Seq_HL-1_Mouse0.82632621
98SOX2_18692474_ChIP-Seq_MEFs_Mouse0.82388974
99CTCF_18555785_ChIP-Seq_MESCs_Mouse0.80946118
100PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.80381048
101FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.78695066
102* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78590038
103SRY_22984422_ChIP-ChIP_TESTIS_Rat0.77854794
104VDR_22108803_ChIP-Seq_LS180_Human0.75863827
105* SOX2_16153702_ChIP-ChIP_HESCs_Human0.75779465
106IRF1_19129219_ChIP-ChIP_H3396_Human0.75478043
107NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.73957266
108POU5F1_16153702_ChIP-ChIP_HESCs_Human0.72924569
109* KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.72053315
110PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.70184979
111ELF5_23300383_ChIP-Seq_T47D_Human0.68158699
112STAT4_19710469_ChIP-ChIP_TH1__Mouse0.64497252

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.36792816
2MP0004957_abnormal_blastocyst_morpholog4.58179938
3MP0009379_abnormal_foot_pigmentation3.61365471
4MP0010094_abnormal_chromosome_stability3.57489590
5MP0008058_abnormal_DNA_repair3.36231166
6MP0003077_abnormal_cell_cycle3.34482244
7MP0003806_abnormal_nucleotide_metabolis3.26652658
8MP0003111_abnormal_nucleus_morphology3.15360168
9MP0008932_abnormal_embryonic_tissue3.05711641
10MP0003186_abnormal_redox_activity2.72586722
11MP0003123_paternal_imprinting2.64883469
12MP0008007_abnormal_cellular_replicative2.59442778
13MP0003786_premature_aging2.37090752
14MP0003718_maternal_effect2.21549947
15MP0008057_abnormal_DNA_replication2.07302995
16MP0009333_abnormal_splenocyte_physiolog2.06516462
17MP0006036_abnormal_mitochondrial_physio2.05944652
18MP0002132_abnormal_respiratory_system1.84569452
19MP0002102_abnormal_ear_morphology1.80518067
20MP0008877_abnormal_DNA_methylation1.80393140
21MP0000372_irregular_coat_pigmentation1.77047729
22MP0006072_abnormal_retinal_apoptosis1.74551233
23MP0002163_abnormal_gland_morphology1.68030111
24MP0003315_abnormal_perineum_morphology1.66639118
25MP0001730_embryonic_growth_arrest1.65880438
26MP0008995_early_reproductive_senescence1.59824557
27MP0000490_abnormal_crypts_of1.57774942
28MP0000350_abnormal_cell_proliferation1.53748302
29MP0009697_abnormal_copulation1.53412632
30MP0006035_abnormal_mitochondrial_morpho1.53025568
31MP0008260_abnormal_autophagy1.49861318
32MP0001293_anophthalmia1.47657533
33MP0001764_abnormal_homeostasis1.38893252
34MP0009785_altered_susceptibility_to1.33338365
35MP0002160_abnormal_reproductive_system1.32438377
36MP0001542_abnormal_bone_strength1.30685634
37MP0006054_spinal_hemorrhage1.29478573
38MP0002148_abnormal_hypersensitivity_rea1.28833524
39MP0005408_hypopigmentation1.28551886
40MP0001835_abnormal_antigen_presentation1.27955347
41MP0003763_abnormal_thymus_physiology1.27216651
42MP0002019_abnormal_tumor_incidence1.26809094
43MP0000358_abnormal_cell_content/1.26493097
44MP0000313_abnormal_cell_death1.22781328
45MP0001727_abnormal_embryo_implantation1.20396033
46MP0002396_abnormal_hematopoietic_system1.17450215
47MP0008875_abnormal_xenobiotic_pharmacok1.17215700
48MP0002837_dystrophic_cardiac_calcinosis1.16080161
49MP0005671_abnormal_response_to1.13426030
50MP0005389_reproductive_system_phenotype1.13279302
51MP0002080_prenatal_lethality1.12152120
52MP0001697_abnormal_embryo_size1.11719328
53MP0000858_altered_metastatic_potential1.09292088
54MP0010030_abnormal_orbit_morphology1.06602523
55MP0002751_abnormal_autonomic_nervous1.05535967
56MP0005084_abnormal_gallbladder_morpholo1.02841155
57MP0001929_abnormal_gametogenesis1.02367714
58MP0005332_abnormal_amino_acid1.01572650
59MP0001529_abnormal_vocalization1.00288248
60MP0002210_abnormal_sex_determination0.99366088
61MP0001905_abnormal_dopamine_level0.99157799
62MP0004147_increased_porphyrin_level0.98405431
63MP0005253_abnormal_eye_physiology0.96301088
64MP0001919_abnormal_reproductive_system0.94537206
65MP0002090_abnormal_vision0.94072633
66MP0000647_abnormal_sebaceous_gland0.93349267
67MP0002736_abnormal_nociception_after0.90904147
68MP0001986_abnormal_taste_sensitivity0.90112940
69MP0002398_abnormal_bone_marrow0.89313639
70MP0001881_abnormal_mammary_gland0.89188662
71MP0001853_heart_inflammation0.87943647
72MP0003221_abnormal_cardiomyocyte_apopto0.86952837
73MP0002722_abnormal_immune_system0.86866196
74MP0005394_taste/olfaction_phenotype0.85936825
75MP0005499_abnormal_olfactory_system0.85936825
76MP0000689_abnormal_spleen_morphology0.85476834
77MP0003567_abnormal_fetal_cardiomyocyte0.85473568
78MP0002938_white_spotting0.84306154
79MP0003136_yellow_coat_color0.84040438
80MP0002429_abnormal_blood_cell0.83989995
81MP0002638_abnormal_pupillary_reflex0.83851243
82MP0005380_embryogenesis_phenotype0.82952787
83MP0001672_abnormal_embryogenesis/_devel0.82952787
84MP0005075_abnormal_melanosome_morpholog0.82387170
85MP0001145_abnormal_male_reproductive0.82310275
86MP0002277_abnormal_respiratory_mucosa0.82051217
87MP0000749_muscle_degeneration0.79981911
88MP0003656_abnormal_erythrocyte_physiolo0.78722626
89MP0006292_abnormal_olfactory_placode0.78406898
90MP0003121_genomic_imprinting0.78126244
91MP0001119_abnormal_female_reproductive0.77468496
92MP0000703_abnormal_thymus_morphology0.77215170
93MP0005025_abnormal_response_to0.76917123
94MP0008872_abnormal_physiological_respon0.76493198
95MP0002095_abnormal_skin_pigmentation0.75497722
96MP0003984_embryonic_growth_retardation0.75493021
97MP0005395_other_phenotype0.73900157
98MP0003195_calcinosis0.73459926
99MP0003724_increased_susceptibility_to0.72678279
100MP0003646_muscle_fatigue0.72056260
101MP0002088_abnormal_embryonic_growth/wei0.71751061
102MP0005636_abnormal_mineral_homeostasis0.71534641
103MP0002420_abnormal_adaptive_immunity0.71528746
104MP0001819_abnormal_immune_cell0.71200054
105MP0000716_abnormal_immune_system0.71157860
106MP0000685_abnormal_immune_system0.70621245
107MP0003937_abnormal_limbs/digits/tail_de0.69678733
108MP0004808_abnormal_hematopoietic_stem0.68546625
109MP0005379_endocrine/exocrine_gland_phen0.68029188
110MP0008873_increased_physiological_sensi0.67604740
111MP0005000_abnormal_immune_tolerance0.67399565
112MP0002085_abnormal_embryonic_tissue0.67279556
113MP0000653_abnormal_sex_gland0.66929346
114MP0005330_cardiomyopathy0.66627878
115MP0005266_abnormal_metabolism0.66602690
116MP0002452_abnormal_antigen_presenting0.66158820
117MP0002233_abnormal_nose_morphology0.65796583
118MP0004133_heterotaxia0.64657859
119MP0002234_abnormal_pharynx_morphology0.64465439
120MP0004782_abnormal_surfactant_physiolog0.64050395
121MP0001661_extended_life_span0.63725348
122MP0001800_abnormal_humoral_immune0.63238389
123MP0005397_hematopoietic_system_phenotyp0.63048213
124MP0001545_abnormal_hematopoietic_system0.63048213
125MP0008789_abnormal_olfactory_epithelium0.62653164
126MP0003941_abnormal_skin_development0.62131218
127MP0002723_abnormal_immune_serum0.61274804
128MP0003011_delayed_dark_adaptation0.60822232
129MP0002111_abnormal_tail_morphology0.59805914
130MP0005410_abnormal_fertilization0.58941975
131MP0002084_abnormal_developmental_patter0.58605712
132MP0002282_abnormal_trachea_morphology0.58044727
133MP0005319_abnormal_enzyme/_coenzyme0.57209655
134MP0005670_abnormal_white_adipose0.56270440
135MP0001984_abnormal_olfaction0.55763128
136MP0001286_abnormal_eye_development0.55743452

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.10408758
2Mitochondrial inheritance (HP:0001427)4.89512549
3Hepatocellular necrosis (HP:0001404)4.84339564
4Abnormal mitochondria in muscle tissue (HP:0008316)4.77549952
5Reticulocytopenia (HP:0001896)4.68836247
6Hepatic necrosis (HP:0002605)4.57829664
7Abnormality of cells of the erythroid lineage (HP:0012130)4.57543926
8Increased CSF lactate (HP:0002490)4.52145154
9Abnormal number of erythroid precursors (HP:0012131)4.34687726
10Acute encephalopathy (HP:0006846)4.20413746
11Progressive macrocephaly (HP:0004481)4.09963119
12Decreased activity of mitochondrial respiratory chain (HP:0008972)4.03640350
13Abnormal activity of mitochondrial respiratory chain (HP:0011922)4.03640350
14Increased hepatocellular lipid droplets (HP:0006565)3.90558928
15Increased serum pyruvate (HP:0003542)3.76046971
16Abnormality of glycolysis (HP:0004366)3.76046971
17Increased serum lactate (HP:0002151)3.75228287
18Lipid accumulation in hepatocytes (HP:0006561)3.69575671
19Macrocytic anemia (HP:0001972)3.61242182
20Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.59396234
21Birth length less than 3rd percentile (HP:0003561)3.46366119
22Oral leukoplakia (HP:0002745)3.37135675
23Pallor (HP:0000980)3.17623744
24Aplasia/Hypoplasia of the sacrum (HP:0008517)3.17219727
25Respiratory failure (HP:0002878)3.17053218
26Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.15269036
27Lactic acidosis (HP:0003128)3.14900509
28Exercise intolerance (HP:0003546)3.08378257
293-Methylglutaconic aciduria (HP:0003535)3.07189891
30Exertional dyspnea (HP:0002875)3.05163537
31Aplastic anemia (HP:0001915)3.01543224
32Cerebral edema (HP:0002181)3.00686619
33Breast hypoplasia (HP:0003187)2.93362240
34Type I transferrin isoform profile (HP:0003642)2.93349987
35Renal Fanconi syndrome (HP:0001994)2.92184922
36Degeneration of anterior horn cells (HP:0002398)2.91513916
37Abnormality of the anterior horn cell (HP:0006802)2.91513916
38Cerebral hypomyelination (HP:0006808)2.87314374
39Increased intramyocellular lipid droplets (HP:0012240)2.84172858
40Multiple enchondromatosis (HP:0005701)2.81613388
41Rough bone trabeculation (HP:0100670)2.79566334
42Microvesicular hepatic steatosis (HP:0001414)2.79282485
43Respiratory difficulties (HP:0002880)2.79226600
44Microretrognathia (HP:0000308)2.67295883
45Poor head control (HP:0002421)2.67198563
46CNS demyelination (HP:0007305)2.65628884
47Carpal bone hypoplasia (HP:0001498)2.61451199
48Trismus (HP:0000211)2.54827837
49Increased muscle lipid content (HP:0009058)2.54030650
50Abnormality of methionine metabolism (HP:0010901)2.49336661
51Abnormality of alanine metabolism (HP:0010916)2.42858548
52Hyperalaninemia (HP:0003348)2.42858548
53Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.42858548
5411 pairs of ribs (HP:0000878)2.42834847
55Emotional lability (HP:0000712)2.35131407
56Methylmalonic aciduria (HP:0012120)2.33236959
57Colon cancer (HP:0003003)2.27741123
58Abnormality of serum amino acid levels (HP:0003112)2.27298929
59Reduced antithrombin III activity (HP:0001976)2.25790108
60Hyperglycinemia (HP:0002154)2.22751323
61Leukodystrophy (HP:0002415)2.21398830
62Thrombocytosis (HP:0001894)2.20265919
63Methylmalonic acidemia (HP:0002912)2.19281000
64Premature graying of hair (HP:0002216)2.18670972
65Secondary amenorrhea (HP:0000869)2.13186681
66Abnormal hemoglobin (HP:0011902)2.12520721
67Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.12270125
68Abnormal protein N-linked glycosylation (HP:0012347)2.12270125
69Abnormal protein glycosylation (HP:0012346)2.12270125
70Abnormal glycosylation (HP:0012345)2.12270125
71Abnormality of aspartate family amino acid metabolism (HP:0010899)2.12226773
72Pancytopenia (HP:0001876)2.09070120
73Abnormality of the labia minora (HP:0012880)2.08085013
74X-linked dominant inheritance (HP:0001423)2.08055570
75Abnormality of renal resorption (HP:0011038)2.07306778
76Chromosomal breakage induced by crosslinking agents (HP:0003221)2.06924969
77Optic disc pallor (HP:0000543)2.06204305
78Abnormal trabecular bone morphology (HP:0100671)2.04646752
79Absent thumb (HP:0009777)2.04145652
80Lethargy (HP:0001254)2.03139613
81Aplasia/Hypoplasia of the patella (HP:0006498)1.99894108
82Horseshoe kidney (HP:0000085)1.99288932
83Patellar aplasia (HP:0006443)1.99273165
84Abnormality of dicarboxylic acid metabolism (HP:0010995)1.98619372
85Dicarboxylic aciduria (HP:0003215)1.98619372
86Congenital, generalized hypertrichosis (HP:0004540)1.97770231
87Aplasia/Hypoplasia of the uvula (HP:0010293)1.93780083
88Abnormality of placental membranes (HP:0011409)1.91790028
89Amniotic constriction ring (HP:0009775)1.91790028
90Chromsome breakage (HP:0040012)1.91693779
91Aplasia/hypoplasia of the uterus (HP:0008684)1.90635521
92Nausea (HP:0002018)1.89307997
93Sparse eyelashes (HP:0000653)1.88658923
94Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.87745112
95Cleft eyelid (HP:0000625)1.86458269
96Abnormality of the preputium (HP:0100587)1.84840632
97Abnormal lung lobation (HP:0002101)1.83318849
98Testicular atrophy (HP:0000029)1.83143327
99Glycosuria (HP:0003076)1.82597511
100Abnormality of urine glucose concentration (HP:0011016)1.82597511
101Cellular immunodeficiency (HP:0005374)1.81462268
102Gliosis (HP:0002171)1.80313721
103Meckel diverticulum (HP:0002245)1.79858860
104Bone marrow hypocellularity (HP:0005528)1.79087397
105Triphalangeal thumb (HP:0001199)1.78208397
106Premature ovarian failure (HP:0008209)1.75387243
107Blindness (HP:0000618)1.74842743
108Postnatal microcephaly (HP:0005484)1.73581222
109Irregular epiphyses (HP:0010582)1.73444831
110Unsteady gait (HP:0002317)1.70337947
111Megaloblastic anemia (HP:0001889)1.69922209
112Palpitations (HP:0001962)1.69695419
113CNS hypomyelination (HP:0003429)1.69548956
114Generalized aminoaciduria (HP:0002909)1.69456362
115Muscle fiber atrophy (HP:0100295)1.68883796
116Abnormality of the ileum (HP:0001549)1.68069058
117Abnormality of chromosome stability (HP:0003220)1.67921946
118Hyperphosphaturia (HP:0003109)1.66968636
119Small intestinal stenosis (HP:0012848)1.66709872
120Duodenal stenosis (HP:0100867)1.66709872
121Neoplasm of the pancreas (HP:0002894)1.65934591
122Hypoglycemic coma (HP:0001325)1.64957028
123Facial cleft (HP:0002006)1.64342578
124Glossoptosis (HP:0000162)1.63374312
125Type 2 muscle fiber atrophy (HP:0003554)1.63280409
126Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.62642995
127Abnormality of glycine metabolism (HP:0010895)1.62399019
128Abnormality of serine family amino acid metabolism (HP:0010894)1.62399019

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK24.43408890
2BUB14.34387439
3EIF2AK14.13600618
4NME23.91747779
5STK163.62509862
6WEE13.23065825
7TLK13.20050112
8EIF2AK32.69334117
9SRPK12.68937921
10TESK22.39883413
11PBK2.33112395
12ACVR1B2.02445932
13NME11.99499869
14PIM21.99240534
15TSSK61.93181294
16VRK11.91760090
17CDC71.85998148
18TRIM281.77772048
19PDK21.75634893
20TESK11.73701438
21PLK41.71316841
22NUAK11.69740407
23BRSK21.66332952
24LIMK11.60761137
25BCKDK1.60200426
26NEK11.50509023
27PLK11.39485126
28MAP3K121.30706401
29AURKA1.28599176
30MST41.27404218
31MAP4K21.24712745
32ZAK1.24512117
33AURKB1.24470216
34BRAF1.24094920
35SCYL21.21356640
36MKNK11.19965585
37ARAF1.18990953
38CDK81.17659033
39RPS6KA41.15874358
40DYRK31.13626711
41PASK1.12125589
42KDR1.09693791
43RPS6KB21.08166432
44MYLK1.08156694
45CCNB11.07716860
46NEK91.07615635
47PLK31.07404787
48TAF11.02496045
49CSNK1G31.00584412
50WNK30.96836698
51BRSK10.95268309
52NEK20.93112218
53EIF2AK20.90886299
54CDK70.89148798
55CSNK1G10.85699100
56MAP3K110.84512158
57BLK0.84461454
58MKNK20.82945894
59ILK0.81563733
60TTK0.81511931
61ABL20.80402811
62DYRK20.78094946
63CDK190.77959011
64CSNK2A10.77394973
65TGFBR10.76260972
66CSNK1A1L0.73231173
67BCR0.71892516
68GRK10.70927372
69ATR0.70728550
70CSNK1G20.70528503
71MAPKAPK30.70479922
72CSNK2A20.69179997
73MAP3K80.67899235
74PIM10.66510856
75EPHA20.66108197
76PAK10.63608611
77ZAP700.63027828
78RPS6KA50.62316931
79STK38L0.60362481
80PAK40.60172866
81LRRK20.58628652
82FLT30.58084932
83DAPK30.57281099
84PRKCI0.56386130
85ERBB30.53944724
86PLK20.53892090
87MAP2K70.52830821
88STK40.52252346
89MUSK0.51920474
90OBSCN0.51863127
91CHEK20.51815285
92IRAK40.49025362
93TEC0.48263384
94ADRBK20.45543587
95ATM0.44684325
96PDK30.43984752
97PDK40.43984752
98STK100.43890943
99CLK10.43541107
100TXK0.43291932
101TAOK20.41847002
102MAP4K10.41345320
103IRAK30.39852598
104YES10.39433651
105ALK0.38118629
106MAP2K60.38026956
107PIK3CG0.37067264
108BMPR1B0.36194966
109CHEK10.35967974
110ERBB40.35024189
111STK240.34924387
112MAPKAPK50.33972510
113TBK10.32691223
114CDK40.32460559
115TNIK0.31916398
116IKBKB0.31420638
117MST1R0.30108269
118OXSR10.28710159
119LYN0.27948084
120BTK0.26297332
121DAPK10.26244477
122CASK0.26107162
123INSRR0.24900186
124CSNK1A10.24750185
125RPS6KA60.24419266
126AKT30.23824100
127MINK10.23202805
128CSNK1E0.23090965
129FGFR10.22926010
130MAP3K50.21686659
131CDK140.21648010

Predicted pathways (KEGG)

RankGene SetZ-score
1* Proteasome_Homo sapiens_hsa030505.03560658
2Ribosome_Homo sapiens_hsa030104.85016791
3DNA replication_Homo sapiens_hsa030303.69818278
4RNA polymerase_Homo sapiens_hsa030203.54968932
5Mismatch repair_Homo sapiens_hsa034303.19976486
6Oxidative phosphorylation_Homo sapiens_hsa001902.98469607
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.82067602
8Parkinsons disease_Homo sapiens_hsa050122.74891278
9Protein export_Homo sapiens_hsa030602.61247874
10Spliceosome_Homo sapiens_hsa030402.52596141
11Pyrimidine metabolism_Homo sapiens_hsa002402.50900311
12Nucleotide excision repair_Homo sapiens_hsa034202.42186873
13Homologous recombination_Homo sapiens_hsa034402.42003710
14Base excision repair_Homo sapiens_hsa034102.28752646
15RNA transport_Homo sapiens_hsa030132.12443943
16Huntingtons disease_Homo sapiens_hsa050162.07290170
17Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.85131947
18Basal transcription factors_Homo sapiens_hsa030221.77877986
19One carbon pool by folate_Homo sapiens_hsa006701.71252849
20Alzheimers disease_Homo sapiens_hsa050101.67133080
21Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.59781868
22Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.56220600
23Cell cycle_Homo sapiens_hsa041101.54957983
24Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.42697119
25Folate biosynthesis_Homo sapiens_hsa007901.35740011
26Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.33666210
27Purine metabolism_Homo sapiens_hsa002301.33436474
28Non-homologous end-joining_Homo sapiens_hsa034501.31277749
29RNA degradation_Homo sapiens_hsa030181.29445133
30Fanconi anemia pathway_Homo sapiens_hsa034601.27342000
31Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.21402879
32Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.15722177
33Pentose phosphate pathway_Homo sapiens_hsa000301.08044848
34Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.05263097
35Sulfur relay system_Homo sapiens_hsa041221.03797074
36Epstein-Barr virus infection_Homo sapiens_hsa051691.00392832
37Drug metabolism - other enzymes_Homo sapiens_hsa009830.94621255
38Glutathione metabolism_Homo sapiens_hsa004800.91811429
39Steroid biosynthesis_Homo sapiens_hsa001000.90811728
40p53 signaling pathway_Homo sapiens_hsa041150.85531686
41Carbon metabolism_Homo sapiens_hsa012000.84388856
42Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.84349424
43Cysteine and methionine metabolism_Homo sapiens_hsa002700.82490604
44Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.79403823
45Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.75922040
46Legionellosis_Homo sapiens_hsa051340.73942788
47Systemic lupus erythematosus_Homo sapiens_hsa053220.73028357
48mRNA surveillance pathway_Homo sapiens_hsa030150.72566919
49Antigen processing and presentation_Homo sapiens_hsa046120.71798374
50Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.71392654
51Butanoate metabolism_Homo sapiens_hsa006500.68275453
52Biosynthesis of amino acids_Homo sapiens_hsa012300.65336690
53Metabolic pathways_Homo sapiens_hsa011000.63841517
54Fatty acid metabolism_Homo sapiens_hsa012120.60784655
55Regulation of autophagy_Homo sapiens_hsa041400.60216389
56Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.60032905
572-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.58702285
58Pyruvate metabolism_Homo sapiens_hsa006200.57336109
59Vibrio cholerae infection_Homo sapiens_hsa051100.56442848
60Fatty acid degradation_Homo sapiens_hsa000710.54940159
61Cardiac muscle contraction_Homo sapiens_hsa042600.54311141
62Selenocompound metabolism_Homo sapiens_hsa004500.54115251
63Herpes simplex infection_Homo sapiens_hsa051680.53080111
64Cyanoamino acid metabolism_Homo sapiens_hsa004600.52050417
65Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.48878187
66Galactose metabolism_Homo sapiens_hsa000520.48012454
67SNARE interactions in vesicular transport_Homo sapiens_hsa041300.47667069
68Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.47651579
69N-Glycan biosynthesis_Homo sapiens_hsa005100.47630543
70Tryptophan metabolism_Homo sapiens_hsa003800.47378033
71Primary bile acid biosynthesis_Homo sapiens_hsa001200.46828485
72Arachidonic acid metabolism_Homo sapiens_hsa005900.45143880
73Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.45095886
74Graft-versus-host disease_Homo sapiens_hsa053320.44630065
75Thyroid cancer_Homo sapiens_hsa052160.43628237
76Fructose and mannose metabolism_Homo sapiens_hsa000510.43606667
77Vitamin B6 metabolism_Homo sapiens_hsa007500.42943586
78Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.42557092
79Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.42406568
80Chemical carcinogenesis_Homo sapiens_hsa052040.41669239
81Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.41093878
82Allograft rejection_Homo sapiens_hsa053300.40980753
83Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.37629225
84Fatty acid elongation_Homo sapiens_hsa000620.36577724
85beta-Alanine metabolism_Homo sapiens_hsa004100.36465295
86Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.35226858
87Primary immunodeficiency_Homo sapiens_hsa053400.33203896
88Viral carcinogenesis_Homo sapiens_hsa052030.33144570
89Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.32895005
90Oocyte meiosis_Homo sapiens_hsa041140.32333397
91Intestinal immune network for IgA production_Homo sapiens_hsa046720.31653213
92Sulfur metabolism_Homo sapiens_hsa009200.30735808
93Vitamin digestion and absorption_Homo sapiens_hsa049770.30251659
94Shigellosis_Homo sapiens_hsa051310.29790952
95Fat digestion and absorption_Homo sapiens_hsa049750.28114954
96Collecting duct acid secretion_Homo sapiens_hsa049660.27865748
97Retinol metabolism_Homo sapiens_hsa008300.26537754
98Asthma_Homo sapiens_hsa053100.26070678
99Peroxisome_Homo sapiens_hsa041460.24541331
100Phagosome_Homo sapiens_hsa041450.24174983
101Caffeine metabolism_Homo sapiens_hsa002320.23505302
102Autoimmune thyroid disease_Homo sapiens_hsa053200.22891980
103Nitrogen metabolism_Homo sapiens_hsa009100.21615321
104Type I diabetes mellitus_Homo sapiens_hsa049400.21582536
105Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.21507540
106Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.21390274
107Arginine and proline metabolism_Homo sapiens_hsa003300.21352353
108Phototransduction_Homo sapiens_hsa047440.21141190
109Other glycan degradation_Homo sapiens_hsa005110.20311684
110Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.19793199
111Rheumatoid arthritis_Homo sapiens_hsa053230.19535591
112Propanoate metabolism_Homo sapiens_hsa006400.18821708
113Tyrosine metabolism_Homo sapiens_hsa003500.18285828
114Steroid hormone biosynthesis_Homo sapiens_hsa001400.17631687
115RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.17419385
116Phenylalanine metabolism_Homo sapiens_hsa003600.16986322
117Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.16428394
118Apoptosis_Homo sapiens_hsa042100.16414106
119NOD-like receptor signaling pathway_Homo sapiens_hsa046210.15324692
120Pentose and glucuronate interconversions_Homo sapiens_hsa000400.15293714
121Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.14489140

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