MRPL58

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene is a peptidyl-tRNA hydrolase and a vital component of the large mitochondrial ribosome. The encoded protein serves as a ribosome release factor for this ribosome, which translates mitochondrial genes. This protein may be responsible for degrading prematurely-terminated polypeptides and for reusing stalled ribosomes. Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.26397113
2chaperone-mediated protein transport (GO:0072321)5.16112400
3proteasome assembly (GO:0043248)5.03746559
4ribosomal small subunit biogenesis (GO:0042274)4.81992934
5ATP synthesis coupled proton transport (GO:0015986)4.74944988
6energy coupled proton transport, down electrochemical gradient (GO:0015985)4.74944988
7establishment of protein localization to mitochondrial membrane (GO:0090151)4.69815993
8ribosomal small subunit assembly (GO:0000028)4.61641974
9negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.45010923
10mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.41915602
11ribosomal large subunit biogenesis (GO:0042273)4.37546119
12regulation of mitochondrial translation (GO:0070129)4.19893376
13respiratory electron transport chain (GO:0022904)4.19046142
14maturation of SSU-rRNA (GO:0030490)4.17070983
15pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.15044358
16positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.13351578
17negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.10591124
18negative regulation of ligase activity (GO:0051352)4.10591124
19regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.10286103
20electron transport chain (GO:0022900)4.09829320
21viral transcription (GO:0019083)3.98361170
22anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.96199053
23regulation of cellular amino acid metabolic process (GO:0006521)3.96029466
24protein targeting to mitochondrion (GO:0006626)3.95800705
25pseudouridine synthesis (GO:0001522)3.92642000
26translational termination (GO:0006415)3.90533743
27DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.85123477
28rRNA modification (GO:0000154)3.83561721
29protein complex biogenesis (GO:0070271)3.82188142
30ribonucleoprotein complex biogenesis (GO:0022613)3.79077013
31intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.78584343
32signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.78584343
33signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.78559306
34signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.78559306
35signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.78559306
36SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.77829302
37mitochondrial respiratory chain complex assembly (GO:0033108)3.76409776
38base-excision repair, AP site formation (GO:0006285)3.76255042
39translation (GO:0006412)3.75588205
40mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.74560365
41mitochondrial respiratory chain complex I assembly (GO:0032981)3.74560365
42NADH dehydrogenase complex assembly (GO:0010257)3.74560365
43transcription elongation from RNA polymerase III promoter (GO:0006385)3.73156963
44termination of RNA polymerase III transcription (GO:0006386)3.73156963
45cotranslational protein targeting to membrane (GO:0006613)3.71748341
46signal transduction involved in DNA integrity checkpoint (GO:0072401)3.70237153
47signal transduction involved in DNA damage checkpoint (GO:0072422)3.70237153
48protein targeting to ER (GO:0045047)3.67391587
49pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.66190360
50signal transduction involved in cell cycle checkpoint (GO:0072395)3.64242391
51cellular component biogenesis (GO:0044085)3.63594523
52translational elongation (GO:0006414)3.63360365
53protein localization to mitochondrion (GO:0070585)3.62054020
54formation of translation preinitiation complex (GO:0001731)3.61067043
55establishment of protein localization to mitochondrion (GO:0072655)3.60686915
56positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.59397172
57establishment of protein localization to endoplasmic reticulum (GO:0072599)3.54811450
58oxidative phosphorylation (GO:0006119)3.52841371
59rRNA processing (GO:0006364)3.50740484
60pyrimidine nucleotide catabolic process (GO:0006244)3.50599686
61ribosome assembly (GO:0042255)3.49566121
62protein localization to endoplasmic reticulum (GO:0070972)3.49245039
63chromatin remodeling at centromere (GO:0031055)3.47218191
64establishment of integrated proviral latency (GO:0075713)3.47080127
65positive regulation of ligase activity (GO:0051351)3.46223259
66translational initiation (GO:0006413)3.44048771
67CENP-A containing nucleosome assembly (GO:0034080)3.42290460
68exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.38507560
69DNA strand elongation involved in DNA replication (GO:0006271)3.36284941
70transcription from mitochondrial promoter (GO:0006390)3.36134069
71pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.35946832
72cullin deneddylation (GO:0010388)3.35621750
73telomere maintenance via semi-conservative replication (GO:0032201)3.35051194
74rRNA metabolic process (GO:0016072)3.33353245
75nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.32714583
76tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.32667388
77RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.32667388
78spliceosomal snRNP assembly (GO:0000387)3.32195623
79pyrimidine nucleoside triphosphate metabolic process (GO:0009147)3.31542575
80respiratory chain complex IV assembly (GO:0008535)3.30942895
81deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.29962480
82ribosome biogenesis (GO:0042254)3.29623119
83protein deneddylation (GO:0000338)3.28400440
84regulation of ubiquitin-protein transferase activity (GO:0051438)3.26097793
85GTP biosynthetic process (GO:0006183)3.22894805
86deoxyribose phosphate catabolic process (GO:0046386)3.22588637
87DNA strand elongation (GO:0022616)3.22529824
88deoxyribonucleotide catabolic process (GO:0009264)3.21594901
89nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.20829169
90DNA damage response, detection of DNA damage (GO:0042769)3.19000150
91ubiquinone biosynthetic process (GO:0006744)3.16915606
92regulation of ligase activity (GO:0051340)3.16449856
93maturation of 5.8S rRNA (GO:0000460)3.14994358
94viral life cycle (GO:0019058)3.13028439
95peptidyl-histidine modification (GO:0018202)3.10899994
96protein-cofactor linkage (GO:0018065)3.10822968
97CTP metabolic process (GO:0046036)3.09325844
98CTP biosynthetic process (GO:0006241)3.09325844
99tRNA aminoacylation for protein translation (GO:0006418)3.05627009
100mitotic metaphase plate congression (GO:0007080)3.05127143

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.13340121
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.39079108
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.22956501
4E2F7_22180533_ChIP-Seq_HELA_Human4.18973281
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.11201251
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse4.07670084
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.77684874
8EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.60470334
9HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.55499505
10ETS1_20019798_ChIP-Seq_JURKAT_Human3.55207136
11CREB1_15753290_ChIP-ChIP_HEK293T_Human3.48305428
12MYC_18358816_ChIP-ChIP_MESCs_Mouse3.18580704
13CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.98403286
14NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.96895129
15MYC_19030024_ChIP-ChIP_MESCs_Mouse2.85186820
16E2F4_17652178_ChIP-ChIP_JURKAT_Human2.76156529
17THAP11_20581084_ChIP-Seq_MESCs_Mouse2.65114478
18ELF1_17652178_ChIP-ChIP_JURKAT_Human2.64592822
19FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.59320859
20HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.58556504
21MYC_19079543_ChIP-ChIP_MESCs_Mouse2.57461716
22VDR_23849224_ChIP-Seq_CD4+_Human2.46720810
23DCP1A_22483619_ChIP-Seq_HELA_Human2.46367744
24XRN2_22483619_ChIP-Seq_HELA_Human2.42920085
25FOXP3_21729870_ChIP-Seq_TREG_Human2.38563258
26E2F1_18555785_ChIP-Seq_MESCs_Mouse2.38376762
27GABP_19822575_ChIP-Seq_HepG2_Human2.31767184
28SRF_21415370_ChIP-Seq_HL-1_Mouse2.26852732
29TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.24775976
30PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.24618149
31NELFA_20434984_ChIP-Seq_ESCs_Mouse2.24267094
32TTF2_22483619_ChIP-Seq_HELA_Human2.16858094
33FOXM1_23109430_ChIP-Seq_U2OS_Human2.15812490
34ELK1_19687146_ChIP-ChIP_HELA_Human2.14795597
35SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.04840517
36PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.97349475
37FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.90595000
38ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.82010672
39MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.80580205
40HOXB4_20404135_ChIP-ChIP_EML_Mouse1.78451624
41MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.78435242
42POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.72327156
43MYCN_18555785_ChIP-Seq_MESCs_Mouse1.72198950
44YY1_21170310_ChIP-Seq_MESCs_Mouse1.67997000
45YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.67748871
46ZFX_18555785_ChIP-Seq_MESCs_Mouse1.66496142
47CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.64373567
48MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.56009635
49E2F1_21310950_ChIP-Seq_MCF-7_Human1.54353314
50KDM5A_27292631_Chip-Seq_BREAST_Human1.51984853
51CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.50071237
52POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.48767721
53PADI4_21655091_ChIP-ChIP_MCF-7_Human1.46211754
54CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.45532593
55CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.41324594
56SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.40168988
57TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.40105882
58AR_21909140_ChIP-Seq_LNCAP_Human1.39188764
59NANOG_18555785_ChIP-Seq_MESCs_Mouse1.34612197
60BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.33082691
61MYC_18940864_ChIP-ChIP_HL60_Human1.32683126
62FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.28598117
63ERG_20887958_ChIP-Seq_HPC-7_Mouse1.26906793
64CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.22123209
65DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.20878487
66E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.19342331
67ZNF263_19887448_ChIP-Seq_K562_Human1.15910069
68HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.15084809
69ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.12708101
70DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.09088162
71CIITA_25753668_ChIP-Seq_RAJI_Human1.08427427
72ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.07142740
73CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.06909025
74SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.02955684
75ELK1_22589737_ChIP-Seq_MCF10A_Human1.02654385
76SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.99617447
77PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.99503337
78CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.98072876
79TFEB_21752829_ChIP-Seq_HELA_Human0.94993396
80HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.94863371
81KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.94184010
82CTCF_18555785_ChIP-Seq_MESCs_Mouse0.92643204
83SOX2_18555785_ChIP-Seq_MESCs_Mouse0.91705285
84KLF4_18555785_ChIP-Seq_MESCs_Mouse0.88793820
85POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.87930776
86TBX5_21415370_ChIP-Seq_HL-1_Mouse0.87360304
87NOTCH1_21737748_ChIP-Seq_TLL_Human0.86917619
88FOXP1_21924763_ChIP-Seq_HESCs_Human0.86790111
89KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.85526672
90STAT3_1855785_ChIP-Seq_MESCs_Mouse0.84460201
91GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.82252543
92CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.79729965
93SOX17_20123909_ChIP-Seq_XEN_Mouse0.79306488
94SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.79243598
95FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.77398778
96NANOG_16153702_ChIP-ChIP_HESCs_Human0.76942433
97TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.76186999
98PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.76030430
99HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.75286484
100CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.70864950

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008058_abnormal_DNA_repair4.80839237
2MP0003693_abnormal_embryo_hatching4.75252669
3MP0004957_abnormal_blastocyst_morpholog3.93535393
4MP0010094_abnormal_chromosome_stability3.86587471
5MP0003806_abnormal_nucleotide_metabolis3.71352510
6MP0003111_abnormal_nucleus_morphology3.35551015
7MP0003077_abnormal_cell_cycle3.12140077
8MP0008932_abnormal_embryonic_tissue3.06027054
9MP0006036_abnormal_mitochondrial_physio2.95800867
10MP0003186_abnormal_redox_activity2.86614709
11MP0003786_premature_aging2.70437415
12MP0006292_abnormal_olfactory_placode2.60131776
13MP0006035_abnormal_mitochondrial_morpho2.46426048
14MP0009379_abnormal_foot_pigmentation2.35194003
15MP0003718_maternal_effect2.29610100
16MP0008007_abnormal_cellular_replicative2.27364854
17MP0000372_irregular_coat_pigmentation2.15814114
18MP0009697_abnormal_copulation2.13966468
19MP0008789_abnormal_olfactory_epithelium1.80755908
20MP0010030_abnormal_orbit_morphology1.77414902
21MP0003646_muscle_fatigue1.61909183
22MP0001730_embryonic_growth_arrest1.61713515
23MP0002160_abnormal_reproductive_system1.58542776
24MP0000749_muscle_degeneration1.58168016
25MP0000358_abnormal_cell_content/1.57773717
26MP0001293_anophthalmia1.54387205
27MP0001529_abnormal_vocalization1.47615127
28MP0005084_abnormal_gallbladder_morpholo1.46972276
29MP0001764_abnormal_homeostasis1.40983855
30MP0000350_abnormal_cell_proliferation1.40940894
31MP0008057_abnormal_DNA_replication1.40145464
32MP0002938_white_spotting1.39226737
33MP0004147_increased_porphyrin_level1.38931725
34MP0003315_abnormal_perineum_morphology1.36432393
35MP0005408_hypopigmentation1.33518761
36MP0002837_dystrophic_cardiac_calcinosis1.27005892
37MP0000313_abnormal_cell_death1.26644902
38MP0008995_early_reproductive_senescence1.26323944
39MP0001697_abnormal_embryo_size1.25999026
40MP0001727_abnormal_embryo_implantation1.24771644
41MP0008875_abnormal_xenobiotic_pharmacok1.24761744
42MP0002102_abnormal_ear_morphology1.24503745
43MP0002210_abnormal_sex_determination1.23105030
44MP0000750_abnormal_muscle_regeneration1.20667023
45MP0004145_abnormal_muscle_electrophysio1.19566067
46MP0004233_abnormal_muscle_weight1.17520446
47MP0005330_cardiomyopathy1.09809628
48MP0005394_taste/olfaction_phenotype1.08356137
49MP0005499_abnormal_olfactory_system1.08356137
50MP0002080_prenatal_lethality1.06916594
51MP0005389_reproductive_system_phenotype1.05935087
52MP0001929_abnormal_gametogenesis1.05510413
53MP0003567_abnormal_fetal_cardiomyocyte1.02357528
54MP0003221_abnormal_cardiomyocyte_apopto1.00276324
55MP0005670_abnormal_white_adipose0.99929714
56MP0001672_abnormal_embryogenesis/_devel0.99226713
57MP0005380_embryogenesis_phenotype0.99226713
58MP0001145_abnormal_male_reproductive0.97536166
59MP0005501_abnormal_skin_physiology0.95789288
60MP0005332_abnormal_amino_acid0.95046479
61MP0002163_abnormal_gland_morphology0.94987733
62MP0000653_abnormal_sex_gland0.93205636
63MP0001881_abnormal_mammary_gland0.93121841
64MP0005075_abnormal_melanosome_morpholog0.92025869
65MP0003011_delayed_dark_adaptation0.88434566
66MP0003941_abnormal_skin_development0.87599228
67MP0002269_muscular_atrophy0.86365054
68MP0003123_paternal_imprinting0.86104688
69MP0001905_abnormal_dopamine_level0.84367913
70MP0001919_abnormal_reproductive_system0.84355733
71MP0002085_abnormal_embryonic_tissue0.83945516
72MP0008877_abnormal_DNA_methylation0.83858780
73MP0001661_extended_life_span0.83573442
74MP0002234_abnormal_pharynx_morphology0.83159207
75MP0000049_abnormal_middle_ear0.82687151
76MP0002019_abnormal_tumor_incidence0.82199056
77MP0003984_embryonic_growth_retardation0.78233596
78MP0002088_abnormal_embryonic_growth/wei0.76235276
79MP0005083_abnormal_biliary_tract0.76016331
80MP0004142_abnormal_muscle_tone0.73443331
81MP0002084_abnormal_developmental_patter0.72971051
82MP0001119_abnormal_female_reproductive0.72599138
83MP0003937_abnormal_limbs/digits/tail_de0.71035992
84MP0005379_endocrine/exocrine_gland_phen0.70615255
85MP0005266_abnormal_metabolism0.69362029
86MP0002090_abnormal_vision0.68357108
87MP0002233_abnormal_nose_morphology0.66447246
88MP0009333_abnormal_splenocyte_physiolog0.65766270
89MP0004197_abnormal_fetal_growth/weight/0.64654140
90MP0000747_muscle_weakness0.63657444
91MP0001346_abnormal_lacrimal_gland0.63541753
92MP0000751_myopathy0.61071258
93MP0001188_hyperpigmentation0.60719385
94MP0003698_abnormal_male_reproductive0.59379860
95MP0003936_abnormal_reproductive_system0.58832053
96MP0002111_abnormal_tail_morphology0.58692778
97MP0005636_abnormal_mineral_homeostasis0.57451794
98MP0005645_abnormal_hypothalamus_physiol0.56187287
99MP0001286_abnormal_eye_development0.55447311
100MP0009672_abnormal_birth_weight0.54268724

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.77734844
2Abnormal mitochondria in muscle tissue (HP:0008316)5.51643767
3Acute encephalopathy (HP:0006846)5.36621187
4Mitochondrial inheritance (HP:0001427)4.99248648
5Increased CSF lactate (HP:0002490)4.88343789
6Progressive macrocephaly (HP:0004481)4.58068502
7Hepatocellular necrosis (HP:0001404)4.57584986
8Increased hepatocellular lipid droplets (HP:0006565)4.17132217
9Hepatic necrosis (HP:0002605)4.16638232
10Cerebral edema (HP:0002181)3.98736937
11Lipid accumulation in hepatocytes (HP:0006561)3.96957684
12Decreased activity of mitochondrial respiratory chain (HP:0008972)3.96043766
13Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.96043766
14Increased serum pyruvate (HP:0003542)3.90252169
15Increased serum lactate (HP:0002151)3.89860328
16Lactic acidosis (HP:0003128)3.74463680
17Increased intramyocellular lipid droplets (HP:0012240)3.59302947
18Abnormality of glycolysis (HP:0004366)3.57956562
19Exercise intolerance (HP:0003546)3.40894129
20Microvesicular hepatic steatosis (HP:0001414)3.33249052
21Renal Fanconi syndrome (HP:0001994)3.30902228
22Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.30253549
23Respiratory failure (HP:0002878)3.20160969
243-Methylglutaconic aciduria (HP:0003535)3.11530785
25Reticulocytopenia (HP:0001896)3.11012962
26Increased muscle lipid content (HP:0009058)3.09319222
27Progressive muscle weakness (HP:0003323)3.08838933
28Abnormality of cells of the erythroid lineage (HP:0012130)2.96303961
29Abnormality of alanine metabolism (HP:0010916)2.89920310
30Hyperalaninemia (HP:0003348)2.89920310
31Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.89920310
32Aplasia/Hypoplasia of the sacrum (HP:0008517)2.89342585
33Type I transferrin isoform profile (HP:0003642)2.88064075
34Abnormal number of erythroid precursors (HP:0012131)2.87581804
35Macrocytic anemia (HP:0001972)2.79711969
36Reduced antithrombin III activity (HP:0001976)2.76098530
37Ragged-red muscle fibers (HP:0003200)2.68774100
38Leukodystrophy (HP:0002415)2.67749077
39Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.66802109
40Methylmalonic aciduria (HP:0012120)2.60264194
41Lethargy (HP:0001254)2.55631644
42Pancytopenia (HP:0001876)2.54297069
43Optic disc pallor (HP:0000543)2.52946594
44Abnormal protein glycosylation (HP:0012346)2.50792991
45Abnormal glycosylation (HP:0012345)2.50792991
46Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.50792991
47Abnormal protein N-linked glycosylation (HP:0012347)2.50792991
48Respiratory difficulties (HP:0002880)2.50005906
49Exertional dyspnea (HP:0002875)2.48100383
50Abnormality of the anterior horn cell (HP:0006802)2.46638706
51Degeneration of anterior horn cells (HP:0002398)2.46638706
52Aplastic anemia (HP:0001915)2.43042633
53Multiple enchondromatosis (HP:0005701)2.42073119
54CNS demyelination (HP:0007305)2.35923985
55Microretrognathia (HP:0000308)2.29550973
56Hyperglycinemia (HP:0002154)2.24455775
57Colon cancer (HP:0003003)2.23206209
58Cerebral hypomyelination (HP:0006808)2.17231666
59Emotional lability (HP:0000712)2.13204197
60Abnormality of serum amino acid levels (HP:0003112)2.03928163
61Dicarboxylic aciduria (HP:0003215)2.02818115
62Abnormality of dicarboxylic acid metabolism (HP:0010995)2.02818115
63Cleft eyelid (HP:0000625)2.02039557
64Abnormality of placental membranes (HP:0011409)1.96515832
65Amniotic constriction ring (HP:0009775)1.96515832
66X-linked dominant inheritance (HP:0001423)1.95749904
67Horseshoe kidney (HP:0000085)1.95158749
68Rough bone trabeculation (HP:0100670)1.92089662
69Chromsome breakage (HP:0040012)1.91039078
70Oral leukoplakia (HP:0002745)1.90252240
71Abnormality of the preputium (HP:0100587)1.90245142
72Testicular atrophy (HP:0000029)1.90169039
73Sparse eyelashes (HP:0000653)1.89855343
74Meckel diverticulum (HP:0002245)1.89822455
75Absent rod-and cone-mediated responses on ERG (HP:0007688)1.89286602
76Chromosomal breakage induced by crosslinking agents (HP:0003221)1.89173764
77Pallor (HP:0000980)1.84507030
78Muscle fiber atrophy (HP:0100295)1.81520228
79Hyperglycinuria (HP:0003108)1.80108205
80Birth length less than 3rd percentile (HP:0003561)1.79952726
81Abnormality of the ileum (HP:0001549)1.78694849
82Type 2 muscle fiber atrophy (HP:0003554)1.78338029
83Absent thumb (HP:0009777)1.77559860
84Premature ovarian failure (HP:0008209)1.77093308
85Abnormality of renal resorption (HP:0011038)1.75971265
86Abnormality of glycine metabolism (HP:0010895)1.75368538
87Abnormality of serine family amino acid metabolism (HP:0010894)1.75368538
88Glycosuria (HP:0003076)1.73224705
89Abnormality of urine glucose concentration (HP:0011016)1.73224705
90Aplasia/Hypoplasia of the uvula (HP:0010293)1.70905251
91Generalized aminoaciduria (HP:0002909)1.68533273
92Hyperphosphaturia (HP:0003109)1.67801827
93Abnormality of methionine metabolism (HP:0010901)1.67799868
94Facial cleft (HP:0002006)1.67111692
95CNS hypomyelination (HP:0003429)1.66224880
96Progressive microcephaly (HP:0000253)1.64899485
97Methylmalonic acidemia (HP:0002912)1.63344678
98Postnatal microcephaly (HP:0005484)1.63070800
99Progressive external ophthalmoplegia (HP:0000590)1.62764547
100Blindness (HP:0000618)1.61971970

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK164.35902772
2BUB14.23425191
3VRK24.18376254
4NME24.07665402
5CDC72.80154309
6NEK12.79170369
7EIF2AK12.65668279
8MST42.51026476
9SRPK12.38042968
10ZAK2.34156963
11BCKDK2.33404138
12PDK22.17720354
13PBK2.09783252
14VRK12.07313235
15EIF2AK31.98043984
16NME11.97652681
17TTK1.90833199
18SCYL21.74587833
19PLK41.70690812
20TSSK61.69432215
21TESK21.58152823
22TRIM281.55660963
23NUAK11.51004274
24PLK31.48312061
25PLK11.43208728
26DYRK31.41610615
27LIMK11.36499413
28AURKB1.30859479
29WEE11.30721643
30CCNB11.26811286
31ABL21.26250637
32AURKA1.22221188
33MAPKAPK31.19964428
34CDK81.17996891
35MAP3K121.15089344
36KDR1.14672872
37TLK11.14169399
38PIM21.13651322
39BRSK11.13000743
40CSNK1G31.12934429
41DYRK21.08773449
42ARAF1.08344701
43TAF11.02129464
44ATR1.01279139
45RPS6KB21.00296055
46DAPK10.98094387
47TESK10.94627038
48CHEK20.94063533
49MAP4K20.92583501
50CSNK1A1L0.92443843
51MAPKAPK50.88688281
52MST1R0.88183102
53CSNK1G10.87784780
54EIF2AK20.85068545
55BRSK20.83713859
56CSNK1G20.81221607
57RPS6KA50.80824453
58CDK190.79064331
59CSNK2A20.77679481
60STK40.76798383
61CDK70.75562775
62BRAF0.74116705
63RPS6KA40.73513204
64PAK40.71374673
65CSNK2A10.71295630
66CHEK10.69781514
67NEK20.69365787
68MAP2K70.69225984
69PRKCI0.67064187
70MUSK0.66119740
71ILK0.62677822
72DAPK30.61650044
73MAP3K80.61050756
74BCR0.61031175
75OBSCN0.60118344
76MKNK10.59457465
77AKT20.58827529
78LRRK20.58291871
79EPHA20.56907751
80PAK10.51298710
81MAP3K40.45431335
82ATM0.43550661
83IRAK30.43293504
84BMPR1B0.42541615
85STK100.39421806
86CSNK1E0.35874331
87SMG10.33855799
88PHKG20.33059791
89PHKG10.33059791
90CDK10.31756596
91CDK20.30701496
92TAOK20.30640624
93CDK140.29582109
94ERBB40.28658616
95MINK10.28602395
96PINK10.28445171
97GRK10.28444598
98CSNK1A10.26768764
99WNK30.25439384
100MKNK20.25049872

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.61321680
2Ribosome_Homo sapiens_hsa030104.02980098
3Oxidative phosphorylation_Homo sapiens_hsa001903.45258673
4Parkinsons disease_Homo sapiens_hsa050123.12359101
5DNA replication_Homo sapiens_hsa030303.08177487
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.86805899
7RNA polymerase_Homo sapiens_hsa030202.76374430
8Mismatch repair_Homo sapiens_hsa034302.73872813
9Base excision repair_Homo sapiens_hsa034102.37981822
10Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.31225949
11Huntingtons disease_Homo sapiens_hsa050162.26765134
12Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.17582323
13Protein export_Homo sapiens_hsa030602.13286153
14Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.12772516
15Homologous recombination_Homo sapiens_hsa034402.11955934
16Pyrimidine metabolism_Homo sapiens_hsa002402.06737097
17Spliceosome_Homo sapiens_hsa030402.02599785
18Alzheimers disease_Homo sapiens_hsa050101.95057225
19Nucleotide excision repair_Homo sapiens_hsa034201.87613577
202-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.87029832
21Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.84451305
22Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.77451573
23One carbon pool by folate_Homo sapiens_hsa006701.76962689
24RNA transport_Homo sapiens_hsa030131.71916686
25Sulfur relay system_Homo sapiens_hsa041221.61715794
26Fatty acid elongation_Homo sapiens_hsa000621.60847930
27Cysteine and methionine metabolism_Homo sapiens_hsa002701.53728468
28Non-homologous end-joining_Homo sapiens_hsa034501.53699504
29Fanconi anemia pathway_Homo sapiens_hsa034601.52782415
30RNA degradation_Homo sapiens_hsa030181.47098556
31Pyruvate metabolism_Homo sapiens_hsa006201.41667716
32Biosynthesis of amino acids_Homo sapiens_hsa012301.34828434
33Propanoate metabolism_Homo sapiens_hsa006401.34796664
34Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.33883498
35Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.32613263
36Basal transcription factors_Homo sapiens_hsa030221.31776552
37Cardiac muscle contraction_Homo sapiens_hsa042601.29752147
38Carbon metabolism_Homo sapiens_hsa012001.28321062
39Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.26050527
40Folate biosynthesis_Homo sapiens_hsa007901.24189029
41Purine metabolism_Homo sapiens_hsa002301.23001954
42Glutathione metabolism_Homo sapiens_hsa004801.11620832
43Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.04326547
44Cell cycle_Homo sapiens_hsa041101.04271991
45Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.94068678
46Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.89087000
47Selenocompound metabolism_Homo sapiens_hsa004500.88133107
48Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.87800392
49Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.86964126
50Sulfur metabolism_Homo sapiens_hsa009200.86004728
51Vitamin B6 metabolism_Homo sapiens_hsa007500.85020035
52Metabolic pathways_Homo sapiens_hsa011000.83537137
53Peroxisome_Homo sapiens_hsa041460.76352718
54Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.75408344
55Pentose phosphate pathway_Homo sapiens_hsa000300.75164752
56Arginine and proline metabolism_Homo sapiens_hsa003300.73383550
57Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.70342401
58mRNA surveillance pathway_Homo sapiens_hsa030150.64509462
59p53 signaling pathway_Homo sapiens_hsa041150.64116103
60Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.63306197
61Drug metabolism - other enzymes_Homo sapiens_hsa009830.62848038
62Steroid biosynthesis_Homo sapiens_hsa001000.62675827
63Systemic lupus erythematosus_Homo sapiens_hsa053220.60872271
64Pentose and glucuronate interconversions_Homo sapiens_hsa000400.56435962
65Fatty acid metabolism_Homo sapiens_hsa012120.54523098
66beta-Alanine metabolism_Homo sapiens_hsa004100.54164065
67Phenylalanine metabolism_Homo sapiens_hsa003600.53494480
68Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.52730878
69Galactose metabolism_Homo sapiens_hsa000520.47664255
70Tyrosine metabolism_Homo sapiens_hsa003500.47647782
71Fatty acid degradation_Homo sapiens_hsa000710.46925222
72Epstein-Barr virus infection_Homo sapiens_hsa051690.45153258
73Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.42628927
74N-Glycan biosynthesis_Homo sapiens_hsa005100.42336181
75Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.37091390
76Fructose and mannose metabolism_Homo sapiens_hsa000510.34687524
77Butanoate metabolism_Homo sapiens_hsa006500.34512257
78Oocyte meiosis_Homo sapiens_hsa041140.34260704
79Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.33219990
80Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.31527861
81Arginine biosynthesis_Homo sapiens_hsa002200.29680616
82Tryptophan metabolism_Homo sapiens_hsa003800.29177046
83Collecting duct acid secretion_Homo sapiens_hsa049660.27962027
84Regulation of autophagy_Homo sapiens_hsa041400.27706327
85Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.27619127
86Primary bile acid biosynthesis_Homo sapiens_hsa001200.26363324
87Chemical carcinogenesis_Homo sapiens_hsa052040.23747618
88Vibrio cholerae infection_Homo sapiens_hsa051100.21472305
89Alcoholism_Homo sapiens_hsa050340.20126244
90Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.18085405
91Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.16417809
92Steroid hormone biosynthesis_Homo sapiens_hsa001400.15249033
93Retinol metabolism_Homo sapiens_hsa008300.13984045
94Caffeine metabolism_Homo sapiens_hsa002320.12659395
95SNARE interactions in vesicular transport_Homo sapiens_hsa041300.08509774
96Cyanoamino acid metabolism_Homo sapiens_hsa004600.06954000
97Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.05530859
98Fat digestion and absorption_Homo sapiens_hsa049750.05256811
99Asthma_Homo sapiens_hsa053100.02822209
100Linoleic acid metabolism_Homo sapiens_hsa005910.02448294

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