PSMD7

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 a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1maturation of SSU-rRNA (GO:0030490)5.37922738
2proteasome assembly (GO:0043248)5.27144636
3chaperone-mediated protein transport (GO:0072321)5.03404733
4formation of translation preinitiation complex (GO:0001731)4.95119010
5ribosomal large subunit biogenesis (GO:0042273)4.64943387
6ribosomal small subunit biogenesis (GO:0042274)4.57655668
7* negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.56603967
8viral transcription (GO:0019083)4.45107086
9purine nucleobase biosynthetic process (GO:0009113)4.44871228
10ribosome assembly (GO:0042255)4.44244955
11establishment of protein localization to mitochondrial membrane (GO:0090151)4.42621456
12translational termination (GO:0006415)4.41644098
13mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.39768345
14nucleobase biosynthetic process (GO:0046112)4.38774555
15* positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.36590921
16ribonucleoprotein complex biogenesis (GO:0022613)4.34028807
17ribosomal small subunit assembly (GO:0000028)4.30356502
18* anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:04.27930216
19* regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.27493378
20mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.25701251
21respiratory electron transport chain (GO:0022904)4.21726094
22ribosome biogenesis (GO:0042254)4.21132060
23translational initiation (GO:0006413)4.20008431
24* negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.19124825
25* negative regulation of ligase activity (GO:0051352)4.19124825
26spliceosomal snRNP assembly (GO:0000387)4.12481905
27electron transport chain (GO:0022900)4.12130948
28ATP synthesis coupled proton transport (GO:0015986)4.07762991
29energy coupled proton transport, down electrochemical gradient (GO:0015985)4.07762991
30* regulation of cellular amino acid metabolic process (GO:0006521)4.04335548
31termination of RNA polymerase III transcription (GO:0006386)4.03041823
32transcription elongation from RNA polymerase III promoter (GO:0006385)4.03041823
33DNA replication checkpoint (GO:0000076)4.01663727
34translational elongation (GO:0006414)4.00661148
35rRNA modification (GO:0000154)3.99694001
36DNA deamination (GO:0045006)3.93335807
377-methylguanosine mRNA capping (GO:0006370)3.91777558
38rRNA processing (GO:0006364)3.88941068
39DNA strand elongation involved in DNA replication (GO:0006271)3.87854962
40* DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.86028970
41* positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.85097143
42RNA capping (GO:0036260)3.83997078
437-methylguanosine RNA capping (GO:0009452)3.83997078
44DNA damage response, detection of DNA damage (GO:0042769)3.82389890
45exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.81144865
46cullin deneddylation (GO:0010388)3.80206465
47SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.79797349
48* signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.77950017
49* intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.77950017
50pseudouridine synthesis (GO:0001522)3.77720221
51translation (GO:0006412)3.77278613
52cotranslational protein targeting to membrane (GO:0006613)3.77047639
53mitotic metaphase plate congression (GO:0007080)3.76739371
54* signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.76265734
55* signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.76265734
56* signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.76265734
57establishment of integrated proviral latency (GO:0075713)3.75703384
58DNA replication initiation (GO:0006270)3.75459273
59rRNA metabolic process (GO:0016072)3.75175285
60* signal transduction involved in DNA integrity checkpoint (GO:0072401)3.73614698
61* signal transduction involved in DNA damage checkpoint (GO:0072422)3.73614698
62nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.73165965
63protein targeting to ER (GO:0045047)3.72861597
64* positive regulation of ligase activity (GO:0051351)3.69566586
65DNA strand elongation (GO:0022616)3.68969523
66CENP-A containing nucleosome assembly (GO:0034080)3.68158097
67* signal transduction involved in cell cycle checkpoint (GO:0072395)3.68132568
68establishment of viral latency (GO:0019043)3.65691530
69L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.64341315
70mitochondrial respiratory chain complex assembly (GO:0033108)3.62717355
71transcription elongation from RNA polymerase I promoter (GO:0006362)3.62545968
72protein deneddylation (GO:0000338)3.57516733
73cellular protein complex disassembly (GO:0043624)3.57313971
74cellular component biogenesis (GO:0044085)3.57101955
75protein complex biogenesis (GO:0070271)3.56801105
76chromatin remodeling at centromere (GO:0031055)3.55412932
77nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.55350585
78protein localization to endoplasmic reticulum (GO:0070972)3.54988189
79establishment of protein localization to endoplasmic reticulum (GO:0072599)3.53735363
80transcription from RNA polymerase I promoter (GO:0006360)3.51697241
81viral life cycle (GO:0019058)3.50361329
82termination of RNA polymerase I transcription (GO:0006363)3.49942559
83transcription-coupled nucleotide-excision repair (GO:0006283)3.49518099
84telomere maintenance via semi-conservative replication (GO:0032201)3.49254616
85protein neddylation (GO:0045116)3.47327446
86* regulation of ubiquitin-protein transferase activity (GO:0051438)3.43465599
87mitochondrial respiratory chain complex I assembly (GO:0032981)3.40789220
88NADH dehydrogenase complex assembly (GO:0010257)3.40789220
89mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.40789220
90spliceosomal complex assembly (GO:0000245)3.40240708
91protein localization to mitochondrion (GO:0070585)3.39840712
92* antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.36397545
93regulation of mitochondrial translation (GO:0070129)3.35418673
94IMP biosynthetic process (GO:0006188)3.33266805
95* regulation of ligase activity (GO:0051340)3.32284057
96establishment of protein localization to mitochondrion (GO:0072655)3.29719680
97DNA unwinding involved in DNA replication (GO:0006268)3.29018190
98* G1/S transition of mitotic cell cycle (GO:0000082)3.28485230
99* cell cycle G1/S phase transition (GO:0044843)3.28485230
100IMP metabolic process (GO:0046040)3.22923260
101inner mitochondrial membrane organization (GO:0007007)3.19457833
102protein targeting to mitochondrion (GO:0006626)3.18599057
103rRNA methylation (GO:0031167)3.18299210
104oxidative phosphorylation (GO:0006119)3.17683816
105guanosine-containing compound biosynthetic process (GO:1901070)3.16477879
106transcription initiation from RNA polymerase I promoter (GO:0006361)3.13680923
107protein complex disassembly (GO:0043241)3.13308139
108maturation of 5.8S rRNA (GO:0000460)3.12016986
109DNA replication-independent nucleosome organization (GO:0034724)3.11761597
110DNA replication-independent nucleosome assembly (GO:0006336)3.11761597
111viral mRNA export from host cell nucleus (GO:0046784)3.09641006
112amino acid salvage (GO:0043102)3.08923031
113L-methionine salvage (GO:0071267)3.08923031
114L-methionine biosynthetic process (GO:0071265)3.08923031
115* positive regulation of cell cycle arrest (GO:0071158)3.08216528
116histone exchange (GO:0043486)3.07316725
117UTP biosynthetic process (GO:0006228)3.06898707
118metaphase plate congression (GO:0051310)3.06466048
119GTP biosynthetic process (GO:0006183)3.06276306
120kinetochore organization (GO:0051383)3.05919501
121respiratory chain complex IV assembly (GO:0008535)3.02656341
122nuclear-transcribed mRNA catabolic process (GO:0000956)3.02044231
123* negative regulation of protein ubiquitination (GO:0031397)3.01663947
124telomere maintenance via recombination (GO:0000722)2.99821451
125DNA ligation (GO:0006266)2.99473717

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.64194331
2* MYC_18555785_ChIP-Seq_MESCs_Mouse4.89937434
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.29123630
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.11508026
5* EST1_17652178_ChIP-ChIP_JURKAT_Human3.91062290
6* GABP_17652178_ChIP-ChIP_JURKAT_Human3.86841248
7* ETS1_20019798_ChIP-Seq_JURKAT_Human3.77749475
8* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.75817241
9E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.56037000
10* CREB1_15753290_ChIP-ChIP_HEK293T_Human3.48194764
11* MYC_19079543_ChIP-ChIP_MESCs_Mouse3.40679417
12* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.28789623
13* MYC_19030024_ChIP-ChIP_MESCs_Mouse3.13523563
14SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.00119589
15CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.95466533
16HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.94801222
17NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.87995039
18E2F4_17652178_ChIP-ChIP_JURKAT_Human2.87649155
19CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.87456554
20XRN2_22483619_ChIP-Seq_HELA_Human2.67307177
21FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.62921485
22HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.52462832
23* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.48548221
24DCP1A_22483619_ChIP-Seq_HELA_Human2.46456396
25VDR_23849224_ChIP-Seq_CD4+_Human2.43923103
26FOXM1_23109430_ChIP-Seq_U2OS_Human2.39422342
27* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.35159157
28THAP11_20581084_ChIP-Seq_MESCs_Mouse2.24051515
29TTF2_22483619_ChIP-Seq_HELA_Human2.18710854
30MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.16641112
31* GABP_19822575_ChIP-Seq_HepG2_Human2.10956828
32* YY1_21170310_ChIP-Seq_MESCs_Mouse2.06124157
33FOXP3_21729870_ChIP-Seq_TREG_Human2.05410132
34AR_21909140_ChIP-Seq_LNCAP_Human2.05181274
35MYCN_18555785_ChIP-Seq_MESCs_Mouse1.89570781
36ELK1_19687146_ChIP-ChIP_HELA_Human1.89254451
37MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.86674070
38POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.85771334
39ELF1_17652178_ChIP-ChIP_JURKAT_Human1.82212414
40NANOG_18555785_ChIP-Seq_MESCs_Mouse1.76322458
41* SRF_21415370_ChIP-Seq_HL-1_Mouse1.75767539
42PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.74825148
43ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.74398128
44* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.66494836
45PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.59087583
46* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.58756526
47* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.54951506
48ELK1_22589737_ChIP-Seq_MCF10A_Human1.48900731
49TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.47490728
50POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.40943377
51KDM5A_27292631_Chip-Seq_BREAST_Human1.40220532
52CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.38577550
53POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.37660971
54E2F1_21310950_ChIP-Seq_MCF-7_Human1.35941617
55KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.33658550
56* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.30898210
57CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.30457897
58MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.28237808
59RBPJ_22232070_ChIP-Seq_NCS_Mouse1.27316901
60SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.26075824
61PADI4_21655091_ChIP-ChIP_MCF-7_Human1.22158511
62CIITA_25753668_ChIP-Seq_RAJI_Human1.21765999
63STAT3_1855785_ChIP-Seq_MESCs_Mouse1.21403482
64HOXB4_20404135_ChIP-ChIP_EML_Mouse1.19841607
65ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.18950424
66MYC_18940864_ChIP-ChIP_HL60_Human1.18208194
67HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.18008916
68* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.16359261
69BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.15751341
70KLF4_18555785_ChIP-Seq_MESCs_Mouse1.13237189
71CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.13100895
72NANOG_16153702_ChIP-ChIP_HESCs_Human1.12293182
73SOX2_18555785_ChIP-Seq_MESCs_Mouse1.11093460
74* OCT4_18692474_ChIP-Seq_MEFs_Mouse1.03747973
75CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.02434526
76* SOX2_18692474_ChIP-Seq_MEFs_Mouse1.02048681
77KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.00837288
78* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.00746637
79* CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.99896969
80SOX17_20123909_ChIP-Seq_XEN_Mouse0.99635039
81CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.98686554
82SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.97896042
83SOX2_16153702_ChIP-ChIP_HESCs_Human0.97701484
84HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.97628453
85SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.96637272
86DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.96586516
87TP63_19390658_ChIP-ChIP_HaCaT_Human0.94327397
88TCF3_18692474_ChIP-Seq_MEFs_Mouse0.94150016
89NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.93193140
90TFEB_21752829_ChIP-Seq_HELA_Human0.92111598
91FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.91204974
92ERG_20887958_ChIP-Seq_HPC-7_Mouse0.90597027
93SRY_22984422_ChIP-ChIP_TESTIS_Rat0.90257690
94HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.88362627
95NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.88238985
96POU5F1_16153702_ChIP-ChIP_HESCs_Human0.87591110
97KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.86994234
98KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.86994234
99KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.86994234
100NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.85972309
101SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.85899182
102ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.85732158
103NOTCH1_21737748_ChIP-Seq_TLL_Human0.84081539
104ZNF263_19887448_ChIP-Seq_K562_Human0.83749971
105* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.79464546
106ELF5_23300383_ChIP-Seq_T47D_Human0.78920821
107* TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.78188460
108* EWS_26573619_Chip-Seq_HEK293_Human0.77961755
109DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.77511811
110FOXP1_21924763_ChIP-Seq_HESCs_Human0.76671834
111PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.76443485
112* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.76408038
113SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.72922949
114GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.69804622
115CTCF_18555785_ChIP-Seq_MESCs_Mouse0.67994815
116SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.66490213

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.68897598
2MP0004957_abnormal_blastocyst_morpholog4.87028106
3MP0003111_abnormal_nucleus_morphology4.07039825
4MP0010094_abnormal_chromosome_stability3.65424377
5MP0003077_abnormal_cell_cycle3.63345253
6MP0008057_abnormal_DNA_replication3.28901223
7MP0008932_abnormal_embryonic_tissue3.23894881
8MP0008058_abnormal_DNA_repair2.81190335
9MP0003718_maternal_effect2.72304198
10MP0003123_paternal_imprinting2.61803462
11MP0008007_abnormal_cellular_replicative2.46999130
12MP0001730_embryonic_growth_arrest2.46765264
13MP0003806_abnormal_nucleotide_metabolis2.41245874
14MP0009379_abnormal_foot_pigmentation2.41225406
15MP0003786_premature_aging2.02053105
16MP0000350_abnormal_cell_proliferation1.95976911
17MP0009697_abnormal_copulation1.90230501
18MP0003315_abnormal_perineum_morphology1.79549884
19MP0010030_abnormal_orbit_morphology1.79532411
20MP0001529_abnormal_vocalization1.74798664
21MP0000372_irregular_coat_pigmentation1.68814159
22MP0003186_abnormal_redox_activity1.67014575
23MP0000750_abnormal_muscle_regeneration1.63051268
24MP0001697_abnormal_embryo_size1.58017661
25MP0008877_abnormal_DNA_methylation1.55629317
26MP0008789_abnormal_olfactory_epithelium1.55249664
27MP0006035_abnormal_mitochondrial_morpho1.51927971
28MP0005380_embryogenesis_phenotype1.49717727
29MP0001672_abnormal_embryogenesis/_devel1.49717727
30* MP0002080_prenatal_lethality1.45514363
31MP0006036_abnormal_mitochondrial_physio1.44972401
32MP0002085_abnormal_embryonic_tissue1.40373484
33MP0003221_abnormal_cardiomyocyte_apopto1.38359942
34MP0002102_abnormal_ear_morphology1.36560158
35MP0001727_abnormal_embryo_implantation1.32048992
36MP0004133_heterotaxia1.31003226
37MP0008260_abnormal_autophagy1.30522155
38MP0008995_early_reproductive_senescence1.29660999
39MP0000358_abnormal_cell_content/1.28686583
40MP0002160_abnormal_reproductive_system1.27049644
41MP0000537_abnormal_urethra_morphology1.26645872
42MP0003984_embryonic_growth_retardation1.26557329
43MP0003567_abnormal_fetal_cardiomyocyte1.26296441
44MP0002837_dystrophic_cardiac_calcinosis1.22787023
45MP0003136_yellow_coat_color1.22641404
46MP0002088_abnormal_embryonic_growth/wei1.22512872
47MP0001905_abnormal_dopamine_level1.20264766
48MP0000313_abnormal_cell_death1.18690563
49MP0002084_abnormal_developmental_patter1.18016401
50MP0006072_abnormal_retinal_apoptosis1.16198089
51MP0002653_abnormal_ependyma_morphology1.14828514
52MP0000049_abnormal_middle_ear1.14662471
53MP0005408_hypopigmentation1.12069334
54MP0002751_abnormal_autonomic_nervous1.10946814
55MP0003119_abnormal_digestive_system1.10708674
56MP0001542_abnormal_bone_strength1.10194175
57MP0003941_abnormal_skin_development1.07006971
58MP0002210_abnormal_sex_determination1.03819293
59MP0003937_abnormal_limbs/digits/tail_de1.03712983
60MP0003938_abnormal_ear_development1.03522506
61MP0009053_abnormal_anal_canal0.98407192
62MP0001764_abnormal_homeostasis0.98221184
63MP0006292_abnormal_olfactory_placode0.97259205
64MP0002277_abnormal_respiratory_mucosa0.96363101
65MP0001881_abnormal_mammary_gland0.96128311
66MP0003950_abnormal_plasma_membrane0.96084633
67MP0002938_white_spotting0.95716187
68MP0004197_abnormal_fetal_growth/weight/0.95044742
69MP0001984_abnormal_olfaction0.94512312
70MP0000747_muscle_weakness0.94348634
71MP0005394_taste/olfaction_phenotype0.94239762
72MP0005499_abnormal_olfactory_system0.94239762
73MP0001293_anophthalmia0.93832177
74MP0002736_abnormal_nociception_after0.91650922
75MP0001145_abnormal_male_reproductive0.91454709
76MP0005084_abnormal_gallbladder_morpholo0.88284819
77MP0004084_abnormal_cardiac_muscle0.87208357
78MP0010307_abnormal_tumor_latency0.86887038
79MP0004147_increased_porphyrin_level0.86118638
80MP0009333_abnormal_splenocyte_physiolog0.84771825
81MP0003011_delayed_dark_adaptation0.83979249
82MP0003890_abnormal_embryonic-extraembry0.83635497
83MP0000762_abnormal_tongue_morphology0.83604536
84MP0002233_abnormal_nose_morphology0.83568021
85MP0010352_gastrointestinal_tract_polyps0.83142914
86MP0002086_abnormal_extraembryonic_tissu0.82651332
87MP0002111_abnormal_tail_morphology0.81635851
88MP0005389_reproductive_system_phenotype0.80936652
89MP0002697_abnormal_eye_size0.80663162
90MP0005266_abnormal_metabolism0.80481099
91MP0000749_muscle_degeneration0.78038397
92MP0002019_abnormal_tumor_incidence0.75171474
93MP0003121_genomic_imprinting0.75078314
94MP0002269_muscular_atrophy0.74745186
95MP0005501_abnormal_skin_physiology0.74692048
96MP0003755_abnormal_palate_morphology0.74234876
97MP0000653_abnormal_sex_gland0.74032425
98MP0001485_abnormal_pinna_reflex0.73025579
99MP0002796_impaired_skin_barrier0.72978521
100MP0004145_abnormal_muscle_electrophysio0.72523090
101MP0002132_abnormal_respiratory_system0.72421816
102MP0000647_abnormal_sebaceous_gland0.72269057
103MP0005384_cellular_phenotype0.71824065
104MP0005330_cardiomyopathy0.70402288
105MP0001188_hyperpigmentation0.69540715
106MP0002163_abnormal_gland_morphology0.69438140
107MP0004215_abnormal_myocardial_fiber0.68805292
108MP0006276_abnormal_autonomic_nervous0.68597969
109MP0002396_abnormal_hematopoietic_system0.68318815
110MP0005395_other_phenotype0.67235873
111MP0000490_abnormal_crypts_of0.66895635
112MP0001286_abnormal_eye_development0.66627315
113MP0002090_abnormal_vision0.65693889
114MP0001919_abnormal_reproductive_system0.65214313
115MP0001929_abnormal_gametogenesis0.64301720
116MP0003942_abnormal_urinary_system0.62336270
117MP0008872_abnormal_physiological_respon0.62280517
118MP0003861_abnormal_nervous_system0.62097902
119MP0002638_abnormal_pupillary_reflex0.61937885
120MP0000627_abnormal_mammary_gland0.61613775
121MP0000566_synostosis0.61186957
122MP0000579_abnormal_nail_morphology0.59974407
123MP0001119_abnormal_female_reproductive0.59790292
124MP0009672_abnormal_birth_weight0.59193950
125MP0001853_heart_inflammation0.58950629
126MP0005332_abnormal_amino_acid0.58935440
127MP0000631_abnormal_neuroendocrine_gland0.58695853
128MP0000858_altered_metastatic_potential0.57973560
129MP0000428_abnormal_craniofacial_morphol0.57043947

Predicted human phenotypes

RankGene SetZ-score
1Cerebral hypomyelination (HP:0006808)4.98652913
2Birth length less than 3rd percentile (HP:0003561)4.84475489
3Abnormality of cells of the erythroid lineage (HP:0012130)4.68371380
4Breast hypoplasia (HP:0003187)4.56871080
5Abnormal number of erythroid precursors (HP:0012131)4.29469048
6Acute necrotizing encephalopathy (HP:0006965)3.86758367
7Increased serum pyruvate (HP:0003542)3.74988056
8Abnormality of glycolysis (HP:0004366)3.74988056
9Oral leukoplakia (HP:0002745)3.67631593
10Rough bone trabeculation (HP:0100670)3.67619720
11Reticulocytopenia (HP:0001896)3.56536636
12Mitochondrial inheritance (HP:0001427)3.53812836
13Macrocytic anemia (HP:0001972)3.50725407
14Abnormal mitochondria in muscle tissue (HP:0008316)3.41013208
15Increased CSF lactate (HP:0002490)3.33856702
16Carpal bone hypoplasia (HP:0001498)3.23539506
17Increased hepatocellular lipid droplets (HP:0006565)3.22700467
18Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.13256339
19Hepatocellular necrosis (HP:0001404)3.12395323
20Acute encephalopathy (HP:0006846)2.97156799
21Progressive macrocephaly (HP:0004481)2.96184028
22Trismus (HP:0000211)2.95431985
23Secondary amenorrhea (HP:0000869)2.94426819
24Increased serum lactate (HP:0002151)2.88403665
25Aplasia/Hypoplasia of the sacrum (HP:0008517)2.87228747
26Type I transferrin isoform profile (HP:0003642)2.86338969
27CNS hypomyelination (HP:0003429)2.84521548
28Decreased activity of mitochondrial respiratory chain (HP:0008972)2.83161965
29Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.83161965
30Patellar aplasia (HP:0006443)2.79298429
31Aplasia/Hypoplasia of the patella (HP:0006498)2.78793451
32Increased muscle lipid content (HP:0009058)2.77880676
33Lipid accumulation in hepatocytes (HP:0006561)2.77612108
34Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.76110712
35Meckel diverticulum (HP:0002245)2.73801494
36Multiple enchondromatosis (HP:0005701)2.72958984
37Pallor (HP:0000980)2.72843337
38Abnormality of the anterior horn cell (HP:0006802)2.72596197
39Degeneration of anterior horn cells (HP:0002398)2.72596197
40Abnormal trabecular bone morphology (HP:0100671)2.72304258
41Reduced antithrombin III activity (HP:0001976)2.70411753
42Chromsome breakage (HP:0040012)2.69508183
43Chromosomal breakage induced by crosslinking agents (HP:0003221)2.69334834
44Hepatic necrosis (HP:0002605)2.62226751
45Exercise intolerance (HP:0003546)2.61073206
463-Methylglutaconic aciduria (HP:0003535)2.59664585
47Abnormality of the ileum (HP:0001549)2.56081783
48Abnormality of the preputium (HP:0100587)2.51135782
49Delusions (HP:0000746)2.50984263
50Colon cancer (HP:0003003)2.50612613
51Abnormality of the umbilical cord (HP:0010881)2.50310214
52Premature ovarian failure (HP:0008209)2.49757512
53Stenosis of the external auditory canal (HP:0000402)2.48690298
54Selective tooth agenesis (HP:0001592)2.48619220
55Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.48267561
56Microretrognathia (HP:0000308)2.47953066
57Absent radius (HP:0003974)2.42944313
58Aplastic anemia (HP:0001915)2.40250783
59Postnatal microcephaly (HP:0005484)2.39665606
60Glossoptosis (HP:0000162)2.37061842
61Abnormality of methionine metabolism (HP:0010901)2.35475170
62Respiratory failure (HP:0002878)2.35300024
63Aplasia/Hypoplasia of the uvula (HP:0010293)2.35111425
64Septo-optic dysplasia (HP:0100842)2.31337262
65Optic disc pallor (HP:0000543)2.30219912
66Absent forearm bone (HP:0003953)2.27206289
67Aplasia involving forearm bones (HP:0009822)2.27206289
68Sparse eyelashes (HP:0000653)2.25948483
69Lactic acidosis (HP:0003128)2.25632813
70Lethargy (HP:0001254)2.25216429
71Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.24364640
72Abnormality of serum amino acid levels (HP:0003112)2.24119058
73Premature graying of hair (HP:0002216)2.24095689
74Abnormality of the labia minora (HP:0012880)2.23457389
75Abnormality of placental membranes (HP:0011409)2.23403477
76Amniotic constriction ring (HP:0009775)2.23403477
77Horseshoe kidney (HP:0000085)2.22235361
78Abnormality of chromosome stability (HP:0003220)2.20582820
79Neoplasm of the pancreas (HP:0002894)2.17336485
80Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.17110600
81Abnormal protein N-linked glycosylation (HP:0012347)2.17110600
82Abnormal protein glycosylation (HP:0012346)2.17110600
83Abnormal glycosylation (HP:0012345)2.17110600
84Emotional lability (HP:0000712)2.15835356
85Exertional dyspnea (HP:0002875)2.15803176
86Renal Fanconi syndrome (HP:0001994)2.15109382
87CNS demyelination (HP:0007305)2.14706510
88Unsteady gait (HP:0002317)2.13358805
89Increased intramyocellular lipid droplets (HP:0012240)2.13300981
90Pancytopenia (HP:0001876)2.13254868
91Methylmalonic acidemia (HP:0002912)2.11480435
92Microvesicular hepatic steatosis (HP:0001414)2.11129735
93Abnormality of alanine metabolism (HP:0010916)2.10093423
94Hyperalaninemia (HP:0003348)2.10093423
95Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.10093423
96Leukodystrophy (HP:0002415)2.09345609
97Abnormality of renal resorption (HP:0011038)2.08991134
98Megaloblastic anemia (HP:0001889)2.08153887
99Absent septum pellucidum (HP:0001331)2.07899660
100Calcaneovalgus deformity (HP:0001848)2.06676511
101Respiratory difficulties (HP:0002880)2.06377237
102Shoulder girdle muscle weakness (HP:0003547)2.03869220
103Deformed tarsal bones (HP:0008119)2.02430317
104Progressive muscle weakness (HP:0003323)2.02349638
105Nemaline bodies (HP:0003798)2.00515512
106Absent thumb (HP:0009777)1.98407937
107Cerebral edema (HP:0002181)1.98132573
108Poor head control (HP:0002421)1.98056740
109X-linked dominant inheritance (HP:0001423)1.96496414
110Hyperglycinemia (HP:0002154)1.95113845
111Testicular atrophy (HP:0000029)1.94866523
112Triphalangeal thumb (HP:0001199)1.92301120
113Hypoplasia of the capital femoral epiphysis (HP:0003090)1.92289769
114Atresia of the external auditory canal (HP:0000413)1.92068518
115Abnormality of the fetal cardiovascular system (HP:0010948)1.90331684
116Abnormal umbilical cord blood vessels (HP:0011403)1.90331684
117Single umbilical artery (HP:0001195)1.90331684
118Cellular immunodeficiency (HP:0005374)1.89908352
119Abnormality of the septum pellucidum (HP:0007375)1.89703138
120Irregular epiphyses (HP:0010582)1.89207190
121Abnormality of aspartate family amino acid metabolism (HP:0010899)1.87996173
122Methylmalonic aciduria (HP:0012120)1.87980776
123Hypoplasia of the pons (HP:0012110)1.86933927
124Sensory axonal neuropathy (HP:0003390)1.86031573
125Hypoplastic pelvis (HP:0008839)1.85330872
126Impulsivity (HP:0100710)1.84861564
127Pelvic girdle muscle weakness (HP:0003749)1.83808511
128Abnormalities of placenta or umbilical cord (HP:0001194)1.82805682
129Personality changes (HP:0000751)1.82756746
130Abnormality of the pons (HP:0007361)1.82033276
131Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.81859875
132Aplasia/Hypoplasia involving the musculature (HP:0001460)1.81385568
133Duodenal stenosis (HP:0100867)1.81117716
134Small intestinal stenosis (HP:0012848)1.81117716
135Abnormal lung lobation (HP:0002101)1.80127803
136Areflexia of lower limbs (HP:0002522)1.79181166
137Congenital, generalized hypertrichosis (HP:0004540)1.76905171
138Myelodysplasia (HP:0002863)1.75483578
139Muscle fiber inclusion bodies (HP:0100299)1.75221216
140Generalized aminoaciduria (HP:0002909)1.72403765
141Hyperglycinuria (HP:0003108)1.68449404

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.32935672
2EIF2AK14.34925725
3WEE14.05804376
4VRK23.87294818
5STK163.05230425
6NME22.87024060
7PNCK2.81221643
8CDC72.78483058
9SRPK12.76995069
10TSSK62.66941146
11PBK2.43360817
12PLK42.37408238
13NME12.25469222
14TESK22.12576035
15EIF2AK32.09709688
16TRIM282.09136291
17MAP3K122.08154380
18MKNK12.07977872
19PIM21.88264417
20TTK1.80100181
21NEK11.76618555
22PLK11.72289425
23PLK31.71534066
24TLK11.58743849
25BRSK21.58234600
26AURKA1.56167535
27EPHA21.55764086
28LIMK11.53165617
29ARAF1.50925168
30DYRK31.50508552
31MKNK21.47157044
32TAF11.47150455
33VRK11.44725315
34NEK21.38260438
35TNIK1.35194461
36NUAK11.34757373
37AURKB1.27352620
38RPS6KA41.23494452
39ACVR1B1.19808256
40BRAF1.16922630
41CDK71.13202927
42RPS6KB21.13180162
43BMPR1B1.12423433
44LATS21.05627261
45DYRK21.04015678
46BRSK10.99081806
47EIF2AK20.94129996
48PAK10.90666007
49TESK10.90424864
50CSNK2A20.83796226
51STK38L0.83729255
52MAP3K80.83513558
53CHEK20.83138829
54ATR0.81029110
55PAK40.80972893
56ABL20.80627035
57CSNK2A10.78326544
58MAP2K30.77576436
59MST40.77383044
60BCR0.76872691
61MAP3K110.75248975
62CHEK10.74508679
63PRKCI0.73828860
64ZAK0.73552973
65CSNK1G30.72985870
66KDR0.72746995
67PLK20.71814514
68WNK30.70949624
69PASK0.68149645
70BCKDK0.62078049
71CSNK1E0.61017514
72ERBB40.60791788
73CDK140.60035533
74MAPKAPK30.57674593
75ILK0.55802129
76CSNK1G20.55462826
77BLK0.55262237
78PINK10.54142706
79DAPK10.53914112
80CCNB10.52397488
81CDK20.49396443
82PDK40.49369566
83PDK30.49369566
84RPS6KA50.48972529
85CDK11A0.48831471
86CDK190.48443598
87FGFR10.48094147
88OBSCN0.47906319
89OXSR10.46613548
90CDK150.45541046
91TGFBR10.45133351
92CDK180.45118735
93CDK40.44914900
94CLK10.42526614
95LRRK20.41798941
96CDK10.41490130
97ATM0.39283762
98MAP2K70.37960926
99MAP2K20.37453231
100AKT30.37228166
101PDK20.37059517
102STK390.36310644
103MINK10.34273816
104CDK80.32580638
105CSNK1G10.32441553
106SCYL20.31588127
107ALK0.31572645
108MARK30.30856432
109ADRBK20.30384539
110PRKDC0.29322129
111STK40.28639227
112PHKG10.28108757
113PHKG20.28108757
114AKT20.26622859
115RAF10.26233110
116CSNK1A1L0.25978547
117DAPK30.25854812
118MAPKAPK50.25562287
119MYLK0.22750277
120PAK20.20562850
121MELK0.18325043
122MAP3K30.16962097

Predicted pathways (KEGG)

RankGene SetZ-score
1* Proteasome_Homo sapiens_hsa030505.33248481
2Ribosome_Homo sapiens_hsa030104.54634593
3RNA polymerase_Homo sapiens_hsa030204.15621442
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.81426107
5DNA replication_Homo sapiens_hsa030303.75298325
6Mismatch repair_Homo sapiens_hsa034303.29006844
7Spliceosome_Homo sapiens_hsa030403.20566577
8RNA transport_Homo sapiens_hsa030133.04040660
9Oxidative phosphorylation_Homo sapiens_hsa001902.70496380
10Nucleotide excision repair_Homo sapiens_hsa034202.64825163
11Pyrimidine metabolism_Homo sapiens_hsa002402.61351560
12Parkinsons disease_Homo sapiens_hsa050122.47707867
13Homologous recombination_Homo sapiens_hsa034402.28742047
14Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.20459164
15Huntingtons disease_Homo sapiens_hsa050162.05259368
16Cell cycle_Homo sapiens_hsa041101.99176542
17Base excision repair_Homo sapiens_hsa034101.98775282
18Basal transcription factors_Homo sapiens_hsa030221.94343752
19One carbon pool by folate_Homo sapiens_hsa006701.84002909
20Melanoma_Homo sapiens_hsa052181.66009668
21RNA degradation_Homo sapiens_hsa030181.64873094
22Protein export_Homo sapiens_hsa030601.62830748
23Alzheimers disease_Homo sapiens_hsa050101.57744450
24Purine metabolism_Homo sapiens_hsa002301.49859032
25Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.46500053
26Vitamin B6 metabolism_Homo sapiens_hsa007501.35674762
27Fanconi anemia pathway_Homo sapiens_hsa034601.35397995
28Non-homologous end-joining_Homo sapiens_hsa034501.33782675
29Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.27695385
30mRNA surveillance pathway_Homo sapiens_hsa030151.23855121
31Folate biosynthesis_Homo sapiens_hsa007901.20617094
32Propanoate metabolism_Homo sapiens_hsa006401.20102214
33* Epstein-Barr virus infection_Homo sapiens_hsa051691.12626196
34Cysteine and methionine metabolism_Homo sapiens_hsa002701.12501951
35Sulfur relay system_Homo sapiens_hsa041221.09374936
36p53 signaling pathway_Homo sapiens_hsa041151.06166473
37Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.02781821
38Glutathione metabolism_Homo sapiens_hsa004801.00609292
39Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.00153657
40Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.94248928
41Cardiac muscle contraction_Homo sapiens_hsa042600.93376847
42Oocyte meiosis_Homo sapiens_hsa041140.93349888
43Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.93211872
44Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.89014901
45Biosynthesis of amino acids_Homo sapiens_hsa012300.82863443
462-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.77235541
47Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.75924778
48Pentose phosphate pathway_Homo sapiens_hsa000300.72968491
49Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.72582107
50Carbon metabolism_Homo sapiens_hsa012000.67823138
51Pentose and glucuronate interconversions_Homo sapiens_hsa000400.66982018
52Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.65401248
53Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.64143677
54Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.62347150
55Sulfur metabolism_Homo sapiens_hsa009200.59231815
56Metabolic pathways_Homo sapiens_hsa011000.57546922
57Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.57498909
58Drug metabolism - other enzymes_Homo sapiens_hsa009830.57324533
59Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.52767055
60Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.52337552
61Arginine and proline metabolism_Homo sapiens_hsa003300.49047083
62Cyanoamino acid metabolism_Homo sapiens_hsa004600.48367025
63Butanoate metabolism_Homo sapiens_hsa006500.46607943
64Arachidonic acid metabolism_Homo sapiens_hsa005900.44813758
65Peroxisome_Homo sapiens_hsa041460.44424138
66Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.43400846
67Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.42184071
68Regulation of autophagy_Homo sapiens_hsa041400.40629009
69Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.36745671
70Pyruvate metabolism_Homo sapiens_hsa006200.35622998
71Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.32660581
72Thyroid cancer_Homo sapiens_hsa052160.32354853
73Fructose and mannose metabolism_Homo sapiens_hsa000510.31772585
74Fatty acid metabolism_Homo sapiens_hsa012120.31720237
75Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.31462367
76Collecting duct acid secretion_Homo sapiens_hsa049660.29960173
77Vitamin digestion and absorption_Homo sapiens_hsa049770.29013253
78Viral carcinogenesis_Homo sapiens_hsa052030.28922127
79Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.28834688
80Fatty acid degradation_Homo sapiens_hsa000710.28609861
81Vibrio cholerae infection_Homo sapiens_hsa051100.27832126
82Chemical carcinogenesis_Homo sapiens_hsa052040.26075263
83Hippo signaling pathway_Homo sapiens_hsa043900.25933196
84Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.25369677
85Selenocompound metabolism_Homo sapiens_hsa004500.24462137
86Fatty acid elongation_Homo sapiens_hsa000620.24329571
87Steroid biosynthesis_Homo sapiens_hsa001000.23170518
88Tyrosine metabolism_Homo sapiens_hsa003500.22927743
89Systemic lupus erythematosus_Homo sapiens_hsa053220.22608986
90beta-Alanine metabolism_Homo sapiens_hsa004100.21676135
91Tight junction_Homo sapiens_hsa045300.21385984
92Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.20380571
93TGF-beta signaling pathway_Homo sapiens_hsa043500.18945756
94Linoleic acid metabolism_Homo sapiens_hsa005910.18913135
95HTLV-I infection_Homo sapiens_hsa051660.18845384
96Antigen processing and presentation_Homo sapiens_hsa046120.18244414
97Herpes simplex infection_Homo sapiens_hsa051680.17620936
98Legionellosis_Homo sapiens_hsa051340.15488673
99Tryptophan metabolism_Homo sapiens_hsa003800.15275082
100Phototransduction_Homo sapiens_hsa047440.15001226
101Steroid hormone biosynthesis_Homo sapiens_hsa001400.14862611
102Bladder cancer_Homo sapiens_hsa052190.14232737
103Shigellosis_Homo sapiens_hsa051310.14080019
104Phenylalanine metabolism_Homo sapiens_hsa003600.13777397
105Hedgehog signaling pathway_Homo sapiens_hsa043400.13026150
106Retinol metabolism_Homo sapiens_hsa008300.11304085
107Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.10715972
108Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.10428778
109Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.10387874
110Basal cell carcinoma_Homo sapiens_hsa052170.09621722
111Galactose metabolism_Homo sapiens_hsa000520.08849463
112Mineral absorption_Homo sapiens_hsa049780.07261057
113HIF-1 signaling pathway_Homo sapiens_hsa040660.06957184
114Wnt signaling pathway_Homo sapiens_hsa043100.05287564
115SNARE interactions in vesicular transport_Homo sapiens_hsa041300.05254213
116Fat digestion and absorption_Homo sapiens_hsa049750.03408332
117Starch and sucrose metabolism_Homo sapiens_hsa005000.03209176
118MicroRNAs in cancer_Homo sapiens_hsa052060.02048770
119Phagosome_Homo sapiens_hsa041450.01146014
120Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980-0.0192701
121Apoptosis_Homo sapiens_hsa04210-0.0189761
122Renin-angiotensin system_Homo sapiens_hsa04614-0.0185796
123Sphingolipid metabolism_Homo sapiens_hsa00600-0.0159825
124Ether lipid metabolism_Homo sapiens_hsa00565-0.0127124
125N-Glycan biosynthesis_Homo sapiens_hsa00510-0.0001986

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