MRPL20

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: Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 21q. Alternative splicing results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.98144889
2energy coupled proton transport, down electrochemical gradient (GO:0015985)5.67546932
3ATP synthesis coupled proton transport (GO:0015986)5.67546932
4proteasome assembly (GO:0043248)5.47850991
5mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.47572057
6ribosomal small subunit biogenesis (GO:0042274)5.01116933
7DNA deamination (GO:0045006)4.97358973
8viral transcription (GO:0019083)4.86887518
9respiratory electron transport chain (GO:0022904)4.84414501
10protein neddylation (GO:0045116)4.83916713
11transcription elongation from RNA polymerase III promoter (GO:0006385)4.81589616
12termination of RNA polymerase III transcription (GO:0006386)4.81589616
13translational termination (GO:0006415)4.78106857
14ribosomal small subunit assembly (GO:0000028)4.74722800
15ribosomal large subunit biogenesis (GO:0042273)4.73122020
16electron transport chain (GO:0022900)4.72306733
17maturation of SSU-rRNA (GO:0030490)4.56483246
18establishment of protein localization to mitochondrial membrane (GO:0090151)4.54522817
19chaperone-mediated protein transport (GO:0072321)4.52085528
20SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.41186095
21cotranslational protein targeting to membrane (GO:0006613)4.40362209
22regulation of mitochondrial translation (GO:0070129)4.35187019
23protein targeting to ER (GO:0045047)4.33454883
247-methylguanosine mRNA capping (GO:0006370)4.30867140
25negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.30751647
267-methylguanosine RNA capping (GO:0009452)4.24234651
27RNA capping (GO:0036260)4.24234651
28protein localization to endoplasmic reticulum (GO:0070972)4.15444925
29protein complex biogenesis (GO:0070271)4.14839625
30translational elongation (GO:0006414)4.13840134
31establishment of protein localization to endoplasmic reticulum (GO:0072599)4.10061460
32ATP biosynthetic process (GO:0006754)4.09395015
33* translation (GO:0006412)4.08625159
34mitochondrial respiratory chain complex I assembly (GO:0032981)4.06424753
35NADH dehydrogenase complex assembly (GO:0010257)4.06424753
36mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.06424753
37regulation of cellular amino acid metabolic process (GO:0006521)4.06221658
38positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.02612427
39GTP biosynthetic process (GO:0006183)4.01613479
40inner mitochondrial membrane organization (GO:0007007)3.98068144
41negative regulation of ligase activity (GO:0051352)3.97521532
42negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.97521532
43oxidative phosphorylation (GO:0006119)3.95714680
44rRNA modification (GO:0000154)3.93197624
45purine nucleoside triphosphate biosynthetic process (GO:0009145)3.91676845
46protein targeting to mitochondrion (GO:0006626)3.91614264
47purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.91405846
48cellular protein complex disassembly (GO:0043624)3.90052553
49ribonucleoprotein complex biogenesis (GO:0022613)3.89407092
50mitochondrial respiratory chain complex assembly (GO:0033108)3.88117024
51translational initiation (GO:0006413)3.87523467
52regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.87414102
53DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.86167955
54establishment of protein localization to mitochondrion (GO:0072655)3.84936238
55viral life cycle (GO:0019058)3.82425224
56antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.78209546
57anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.77932787
58signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.77846439
59intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.77846439
60signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.77112857
61signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.77112857
62signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.77112857
63protein targeting to membrane (GO:0006612)3.77011497
64spliceosomal snRNP assembly (GO:0000387)3.76952934
65hydrogen ion transmembrane transport (GO:1902600)3.76604923
66cellular component biogenesis (GO:0044085)3.70950446
67cullin deneddylation (GO:0010388)3.70633759
68transcription elongation from RNA polymerase I promoter (GO:0006362)3.66621471
69guanosine-containing compound biosynthetic process (GO:1901070)3.65787752
70nuclear-transcribed mRNA catabolic process (GO:0000956)3.65277294
71pseudouridine synthesis (GO:0001522)3.65064575
72signal transduction involved in DNA damage checkpoint (GO:0072422)3.64540369
73signal transduction involved in DNA integrity checkpoint (GO:0072401)3.64540369
74ribonucleoside triphosphate biosynthetic process (GO:0009201)3.64407407
75signal transduction involved in cell cycle checkpoint (GO:0072395)3.61180683
76respiratory chain complex IV assembly (GO:0008535)3.58243048
77deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.56718217
78UTP biosynthetic process (GO:0006228)3.56490310
79protein localization to mitochondrion (GO:0070585)3.56299950
80transcription from RNA polymerase I promoter (GO:0006360)3.55922886
81nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.55670784
82termination of RNA polymerase I transcription (GO:0006363)3.54757034
83antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.54361155
84rRNA processing (GO:0006364)3.54088688
85L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.53759503
86mitochondrial transport (GO:0006839)3.49830221
87establishment of integrated proviral latency (GO:0075713)3.49500808
88protein deneddylation (GO:0000338)3.49477036
89chromatin remodeling at centromere (GO:0031055)3.48396601
90mRNA catabolic process (GO:0006402)3.46446841
91positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.45799499
92spliceosomal complex assembly (GO:0000245)3.45279553
93deoxyribonucleotide biosynthetic process (GO:0009263)3.44905486
94CENP-A containing nucleosome assembly (GO:0034080)3.44514671
95pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.44214471
96cytochrome complex assembly (GO:0017004)3.43091418
97rRNA metabolic process (GO:0016072)3.42093020
98deoxyribose phosphate biosynthetic process (GO:0046385)3.41747397
992-deoxyribonucleotide biosynthetic process (GO:0009265)3.41747397
100transcription-coupled nucleotide-excision repair (GO:0006283)3.38267859
101telomere maintenance via semi-conservative replication (GO:0032201)3.36593571
102DNA damage response, detection of DNA damage (GO:0042769)3.36394451
103positive regulation of ligase activity (GO:0051351)3.36012222
104intracellular protein transmembrane import (GO:0044743)3.33980374
105rRNA methylation (GO:0031167)3.33543890
106nucleoside triphosphate biosynthetic process (GO:0009142)3.32735157
107nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.29543890
108DNA strand elongation involved in DNA replication (GO:0006271)3.27541138
109exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.25396245
110proton transport (GO:0015992)3.25072623
111purine nucleoside monophosphate biosynthetic process (GO:0009127)3.24952244
112purine ribonucleoside monophosphate biosynthetic process (GO:0009168)3.24952244
113protein complex disassembly (GO:0043241)3.24783649
114RNA catabolic process (GO:0006401)3.21608925
115hydrogen transport (GO:0006818)3.17625526
116ribosome biogenesis (GO:0042254)3.17395731
117regulation of cellular amine metabolic process (GO:0033238)3.15252035
118macromolecular complex disassembly (GO:0032984)3.14968147
119DNA strand elongation (GO:0022616)3.13342228
120metallo-sulfur cluster assembly (GO:0031163)3.13026257
121iron-sulfur cluster assembly (GO:0016226)3.13026257
122nucleobase-containing small molecule interconversion (GO:0015949)3.12630432
123DNA replication checkpoint (GO:0000076)3.12277562

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.09257323
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.54571991
3SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.49583650
4* JARID1A_20064375_ChIP-Seq_MESCs_Mouse4.22972553
5EST1_17652178_ChIP-ChIP_JURKAT_Human4.16225667
6* MYC_18555785_ChIP-Seq_MESCs_Mouse4.15505752
7E2F7_22180533_ChIP-Seq_HELA_Human3.90282891
8CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.87879981
9* ETS1_20019798_ChIP-Seq_JURKAT_Human3.76353731
10NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.68861425
11E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.54369888
12CREB1_15753290_ChIP-ChIP_HEK293T_Human3.52644321
13EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.47294517
14* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.18260203
15HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.14413407
16* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.13549206
17CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.10861782
18MYC_19079543_ChIP-ChIP_MESCs_Mouse2.76111831
19* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.74361008
20VDR_23849224_ChIP-Seq_CD4+_Human2.64457287
21ELF1_17652178_ChIP-ChIP_JURKAT_Human2.62747443
22DCP1A_22483619_ChIP-Seq_HELA_Human2.54578756
23SRF_21415370_ChIP-Seq_HL-1_Mouse2.36592700
24YY1_21170310_ChIP-Seq_MESCs_Mouse2.34928177
25THAP11_20581084_ChIP-Seq_MESCs_Mouse2.33908422
26E2F1_18555785_ChIP-Seq_MESCs_Mouse2.27777317
27* XRN2_22483619_ChIP-Seq_HELA_Human2.23274285
28E2F4_17652178_ChIP-ChIP_JURKAT_Human2.19250092
29FOXP3_21729870_ChIP-Seq_TREG_Human2.09264614
30ELK1_19687146_ChIP-ChIP_HELA_Human2.07220791
31TTF2_22483619_ChIP-Seq_HELA_Human2.03012194
32PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.01683481
33NELFA_20434984_ChIP-Seq_ESCs_Mouse1.97576085
34ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.96721051
35GABP_19822575_ChIP-Seq_HepG2_Human1.90490478
36FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.83640985
37TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.82454967
38* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.78704824
39MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.77315514
40MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.72118422
41POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.60851588
42CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.60522088
43MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.60129265
44HOXB4_20404135_ChIP-ChIP_EML_Mouse1.53537275
45PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.49811793
46ELK1_22589737_ChIP-Seq_MCF10A_Human1.49603017
47SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.48453213
48FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.41152200
49POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.39988534
50* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.39584660
51YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.37778979
52MYC_18940864_ChIP-ChIP_HL60_Human1.35986307
53FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.35136497
54HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.34410165
55NANOG_18555785_ChIP-Seq_MESCs_Mouse1.30533699
56TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.28149951
57* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.19436079
58FOXM1_23109430_ChIP-Seq_U2OS_Human1.15855856
59ERG_20887958_ChIP-Seq_HPC-7_Mouse1.15158126
60DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.13908227
61BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.13239384
62ZFX_18555785_ChIP-Seq_MESCs_Mouse1.07612498
63KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.06821313
64PADI4_21655091_ChIP-ChIP_MCF-7_Human1.05794906
65IRF1_19129219_ChIP-ChIP_H3396_Human1.02257727
66* CTCF_18555785_ChIP-Seq_MESCs_Mouse0.98871001
67SRY_22984422_ChIP-ChIP_TESTIS_Rat0.97560672
68CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.95687438
69CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.93663678
70SOX2_16153702_ChIP-ChIP_HESCs_Human0.93399561
71CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.92855158
72* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.91239576
73SOX17_20123909_ChIP-Seq_XEN_Mouse0.91123565
74SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.90952694
75ZNF263_19887448_ChIP-Seq_K562_Human0.90401987
76FOXP1_21924763_ChIP-Seq_HESCs_Human0.89130517
77* KDM5A_27292631_Chip-Seq_BREAST_Human0.89086826
78CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.87750896
79PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.87633717
80CIITA_25753668_ChIP-Seq_RAJI_Human0.86895914
81HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.86467228
82CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.86120057
83DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.86039406
84E2F1_21310950_ChIP-Seq_MCF-7_Human0.81097840
85NANOG_16153702_ChIP-ChIP_HESCs_Human0.80843606
86AR_21909140_ChIP-Seq_LNCAP_Human0.79862908
87SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.79346929
88HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.79221700
89YY1_22570637_ChIP-Seq_MALME-3M_Human0.76567083
90* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.75867354
91* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.73807792
92EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.73150521
93FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.73026855
94VDR_22108803_ChIP-Seq_LS180_Human0.72608275
95NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.72366829
96NOTCH1_21737748_ChIP-Seq_TLL_Human0.71782587
97SOX2_18555785_ChIP-Seq_MESCs_Mouse0.71386808
98NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.70139141
99STAT3_1855785_ChIP-Seq_MESCs_Mouse0.69886965
100* ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.68443458
101CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.67430093
102* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.66933495
103POU5F1_16153702_ChIP-ChIP_HESCs_Human0.66311965
104TP63_19390658_ChIP-ChIP_HaCaT_Human0.65541518
105TBX5_21415370_ChIP-Seq_HL-1_Mouse0.64835996
106POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.63994435
107SOX2_18692474_ChIP-Seq_MEFs_Mouse0.63572145
108OCT4_18692474_ChIP-Seq_MEFs_Mouse0.63529014
109PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.63246961
110ELF5_23300383_ChIP-Seq_T47D_Human0.62843006
111KAP1_22055183_ChIP-Seq_ESCs_Mouse0.62561113
112PCGF2_27294783_Chip-Seq_ESCs_Mouse0.62094287
113SPI1_23547873_ChIP-Seq_NB4_Human0.61226545

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching4.57590677
2MP0009379_abnormal_foot_pigmentation3.84901604
3MP0004957_abnormal_blastocyst_morpholog3.19219086
4MP0001529_abnormal_vocalization3.14712147
5MP0008058_abnormal_DNA_repair2.92951223
6MP0003136_yellow_coat_color2.82083739
7MP0003718_maternal_effect2.81135576
8MP0008057_abnormal_DNA_replication2.77978979
9MP0008932_abnormal_embryonic_tissue2.76546855
10MP0003186_abnormal_redox_activity2.69983841
11MP0010094_abnormal_chromosome_stability2.49607767
12MP0001986_abnormal_taste_sensitivity2.44951293
13MP0006036_abnormal_mitochondrial_physio2.35282173
14MP0006035_abnormal_mitochondrial_morpho2.32558181
15MP0003806_abnormal_nucleotide_metabolis2.31189838
16MP0001905_abnormal_dopamine_level2.28400087
17MP0003111_abnormal_nucleus_morphology2.25562712
18MP0003077_abnormal_cell_cycle2.23535944
19MP0010030_abnormal_orbit_morphology2.02362638
20MP0000372_irregular_coat_pigmentation1.96781184
21MP0006276_abnormal_autonomic_nervous1.96366172
22MP0003786_premature_aging1.92833377
23MP0004142_abnormal_muscle_tone1.86126053
24MP0003880_abnormal_central_pattern1.82579901
25MP0003011_delayed_dark_adaptation1.80474588
26MP0008260_abnormal_autophagy1.78572104
27MP0006292_abnormal_olfactory_placode1.77026812
28MP0002736_abnormal_nociception_after1.71947959
29MP0002102_abnormal_ear_morphology1.65268254
30MP0001188_hyperpigmentation1.63913540
31MP0003941_abnormal_skin_development1.62573456
32MP0002638_abnormal_pupillary_reflex1.61704148
33MP0002163_abnormal_gland_morphology1.57967195
34MP0001727_abnormal_embryo_implantation1.56224175
35MP0009333_abnormal_splenocyte_physiolog1.55104018
36MP0002277_abnormal_respiratory_mucosa1.50041324
37MP0001293_anophthalmia1.48522330
38MP0006072_abnormal_retinal_apoptosis1.48245536
39MP0003123_paternal_imprinting1.47341252
40MP0002837_dystrophic_cardiac_calcinosis1.45703752
41MP0008995_early_reproductive_senescence1.44792760
42MP0001661_extended_life_span1.43613177
43MP0002132_abnormal_respiratory_system1.41390762
44MP0008877_abnormal_DNA_methylation1.33704709
45MP0002160_abnormal_reproductive_system1.27119302
46MP0001968_abnormal_touch/_nociception1.26956402
47MP0001764_abnormal_homeostasis1.26591006
48MP0002751_abnormal_autonomic_nervous1.26466311
49MP0002735_abnormal_chemical_nociception1.25296422
50MP0005451_abnormal_body_composition1.23965865
51MP0005171_absent_coat_pigmentation1.21106123
52MP0003315_abnormal_perineum_morphology1.18993456
53MP0002653_abnormal_ependyma_morphology1.17821369
54MP0001485_abnormal_pinna_reflex1.16226951
55MP0003646_muscle_fatigue1.15089683
56MP0004145_abnormal_muscle_electrophysio1.12303842
57MP0002876_abnormal_thyroid_physiology1.11660671
58MP0002148_abnormal_hypersensitivity_rea1.11651249
59MP0001984_abnormal_olfaction1.10982406
60MP0009697_abnormal_copulation1.10136757
61MP0005410_abnormal_fertilization1.08518480
62MP0005379_endocrine/exocrine_gland_phen1.08385660
63MP0001346_abnormal_lacrimal_gland1.07412376
64MP0005377_hearing/vestibular/ear_phenot1.07286933
65MP0003878_abnormal_ear_physiology1.07286933
66MP0004742_abnormal_vestibular_system1.07094903
67MP0002938_white_spotting1.05751844
68MP0005409_darkened_coat_color1.05491991
69MP0000358_abnormal_cell_content/1.04105895
70MP0005332_abnormal_amino_acid1.04044768
71MP0005408_hypopigmentation1.02943173
72MP0008875_abnormal_xenobiotic_pharmacok1.01736631
73MP0005084_abnormal_gallbladder_morpholo1.01725022
74MP0000631_abnormal_neuroendocrine_gland1.01637548
75MP0003724_increased_susceptibility_to1.00775614
76MP0009785_altered_susceptibility_to1.00489537
77MP0005394_taste/olfaction_phenotype0.99657197
78MP0005499_abnormal_olfactory_system0.99657197
79MP0005423_abnormal_somatic_nervous0.98463907
80MP0000049_abnormal_middle_ear0.97566582
81MP0005636_abnormal_mineral_homeostasis0.96715546
82MP0004381_abnormal_hair_follicle0.95604406
83MP0004133_heterotaxia0.95331847
84MP0002734_abnormal_mechanical_nocicepti0.94872953
85MP0008789_abnormal_olfactory_epithelium0.94438737
86MP0002272_abnormal_nervous_system0.93566655
87MP0004147_increased_porphyrin_level0.93103471
88MP0008007_abnormal_cellular_replicative0.92987808
89MP0001542_abnormal_bone_strength0.92917138
90MP0003656_abnormal_erythrocyte_physiolo0.92697972
91MP0005389_reproductive_system_phenotype0.91887500
92MP0003567_abnormal_fetal_cardiomyocyte0.91395219
93MP0001919_abnormal_reproductive_system0.90512553
94MP0000566_synostosis0.89694831
95MP0002210_abnormal_sex_determination0.88808516
96MP0000490_abnormal_crypts_of0.87673216
97MP0001440_abnormal_grooming_behavior0.86864709
98MP0001970_abnormal_pain_threshold0.86334053
99MP0005075_abnormal_melanosome_morpholog0.84592037
100MP0002234_abnormal_pharynx_morphology0.83071215
101MP0005551_abnormal_eye_electrophysiolog0.82489190
102MP0003195_calcinosis0.82272840
103MP0003938_abnormal_ear_development0.82189374
104MP0005646_abnormal_pituitary_gland0.81615542
105MP0002822_catalepsy0.80675180
106MP0010386_abnormal_urinary_bladder0.80514496
107MP0000015_abnormal_ear_pigmentation0.79151518
108MP0001853_heart_inflammation0.77953225
109MP0000026_abnormal_inner_ear0.77627333
110MP0001145_abnormal_male_reproductive0.77156317
111MP0005645_abnormal_hypothalamus_physiol0.76972254
112MP0001697_abnormal_embryo_size0.75936606
113MP0000750_abnormal_muscle_regeneration0.74418134
114MP0005266_abnormal_metabolism0.74144939
115MP0008872_abnormal_physiological_respon0.73823984
116MP0001929_abnormal_gametogenesis0.72577008
117MP0005253_abnormal_eye_physiology0.72375463
118MP0001881_abnormal_mammary_gland0.72314807
119MP0000313_abnormal_cell_death0.72278464
120MP0001730_embryonic_growth_arrest0.71382402
121MP0002090_abnormal_vision0.70238524
122MP0001963_abnormal_hearing_physiology0.68791123
123MP0009046_muscle_twitch0.68406002
124MP0002095_abnormal_skin_pigmentation0.66459909
125MP0002085_abnormal_embryonic_tissue0.65967244
126MP0000350_abnormal_cell_proliferation0.65672993
127MP0005395_other_phenotype0.65489081
128MP0005376_homeostasis/metabolism_phenot0.64016421
129MP0002752_abnormal_somatic_nervous0.63671380
130MP0003937_abnormal_limbs/digits/tail_de0.62807877
131MP0001664_abnormal_digestion0.62774213
132MP0000653_abnormal_sex_gland0.61635617
133MP0003698_abnormal_male_reproductive0.60644882
134MP0005671_abnormal_response_to0.56355957

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.97623132
2Abnormal mitochondria in muscle tissue (HP:0008316)5.35555621
3Mitochondrial inheritance (HP:0001427)5.29294265
4Progressive macrocephaly (HP:0004481)4.90448728
5Acute encephalopathy (HP:0006846)4.85864444
6Abnormality of cells of the erythroid lineage (HP:0012130)4.82012155
7Increased CSF lactate (HP:0002490)4.68375418
8Hepatocellular necrosis (HP:0001404)4.50641157
9Increased hepatocellular lipid droplets (HP:0006565)4.41222739
10Abnormal number of erythroid precursors (HP:0012131)4.40753461
11Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)4.24142591
12Reticulocytopenia (HP:0001896)3.98917506
13Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.95500905
14Hepatic necrosis (HP:0002605)3.93984726
15Lipid accumulation in hepatocytes (HP:0006561)3.86189860
16Renal Fanconi syndrome (HP:0001994)3.77149050
17Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.75611298
18Decreased activity of mitochondrial respiratory chain (HP:0008972)3.75611298
19Increased serum lactate (HP:0002151)3.71380361
203-Methylglutaconic aciduria (HP:0003535)3.69775991
21Abnormality of glycolysis (HP:0004366)3.60125634
22Increased serum pyruvate (HP:0003542)3.60125634
23Exercise intolerance (HP:0003546)3.42023067
24Cerebral edema (HP:0002181)3.37121184
25Macrocytic anemia (HP:0001972)3.36171359
26Optic disc pallor (HP:0000543)3.35108145
27Cerebral hypomyelination (HP:0006808)3.32377475
28Respiratory failure (HP:0002878)3.30378398
29Lactic acidosis (HP:0003128)3.27110521
30Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.21825863
31Increased intramyocellular lipid droplets (HP:0012240)3.17379105
32Microvesicular hepatic steatosis (HP:0001414)3.16070672
33Exertional dyspnea (HP:0002875)3.11249587
34Leukodystrophy (HP:0002415)3.06609224
35Pallor (HP:0000980)2.97796256
36Birth length less than 3rd percentile (HP:0003561)2.93568288
37Respiratory difficulties (HP:0002880)2.64667354
38Increased muscle lipid content (HP:0009058)2.62133361
39Abnormality of renal resorption (HP:0011038)2.59038637
40Parakeratosis (HP:0001036)2.55554796
41Breast hypoplasia (HP:0003187)2.49976310
42Chromosomal breakage induced by crosslinking agents (HP:0003221)2.49526924
43Congenital, generalized hypertrichosis (HP:0004540)2.42667125
44Rough bone trabeculation (HP:0100670)2.40663527
45Type I transferrin isoform profile (HP:0003642)2.40116785
46Duplicated collecting system (HP:0000081)2.40010966
47Aplastic anemia (HP:0001915)2.34117615
48Oral leukoplakia (HP:0002745)2.33978556
49CNS demyelination (HP:0007305)2.32599349
50Progressive external ophthalmoplegia (HP:0000590)2.31384724
51Congenital ichthyosiform erythroderma (HP:0007431)2.30656142
52Testicular atrophy (HP:0000029)2.30213653
53Colon cancer (HP:0003003)2.26169478
54Chromsome breakage (HP:0040012)2.24941645
55Generalized aminoaciduria (HP:0002909)2.23650538
56Aplasia/Hypoplasia of the sacrum (HP:0008517)2.18873024
57Methylmalonic acidemia (HP:0002912)2.16497120
58Lethargy (HP:0001254)2.11666446
59Carpal bone hypoplasia (HP:0001498)2.10737509
60Pancytopenia (HP:0001876)2.08359752
61Emotional lability (HP:0000712)2.05824466
62CNS hypomyelination (HP:0003429)2.00994243
63Cleft eyelid (HP:0000625)2.00614244
64Abnormality of urine glucose concentration (HP:0011016)1.98268888
65Glycosuria (HP:0003076)1.98268888
66Abnormality of placental membranes (HP:0011409)1.97207887
67Amniotic constriction ring (HP:0009775)1.97207887
68Abnormality of the preputium (HP:0100587)1.95923674
69Abnormality of the renal collecting system (HP:0004742)1.94737646
70Abnormal trabecular bone morphology (HP:0100671)1.92928232
71Aplasia/hypoplasia of the uterus (HP:0008684)1.92003504
72Progressive muscle weakness (HP:0003323)1.91422870
73Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.89213484
74Abnormality of alanine metabolism (HP:0010916)1.89213484
75Hyperalaninemia (HP:0003348)1.89213484
76Hyperglycinemia (HP:0002154)1.89151383
77Degeneration of anterior horn cells (HP:0002398)1.86786170
78Abnormality of the anterior horn cell (HP:0006802)1.86786170
79Pancreatic cysts (HP:0001737)1.86186820
80Abnormality of dicarboxylic acid metabolism (HP:0010995)1.84962162
81Dicarboxylic aciduria (HP:0003215)1.84962162
82Hyperphosphaturia (HP:0003109)1.84950744
83Septo-optic dysplasia (HP:0100842)1.84523106
84Neuroendocrine neoplasm (HP:0100634)1.82871350
85Delusions (HP:0000746)1.82869927
86Renal tubular dysfunction (HP:0000124)1.81633230
87Horseshoe kidney (HP:0000085)1.81304357
88Secondary amenorrhea (HP:0000869)1.80337796
89Irregular epiphyses (HP:0010582)1.78802466
90Absent thumb (HP:0009777)1.78615503
91Abnormality of the labia minora (HP:0012880)1.78126708
92Myokymia (HP:0002411)1.73637393
93Abnormality of the heme biosynthetic pathway (HP:0010472)1.73301216
94Meckel diverticulum (HP:0002245)1.72596176
95X-linked dominant inheritance (HP:0001423)1.70826227
96Vomiting (HP:0002013)1.70636717
97Premature graying of hair (HP:0002216)1.70345040
98Sparse eyelashes (HP:0000653)1.69824522
99Abnormality of serum amino acid levels (HP:0003112)1.69368960
100Reduced antithrombin III activity (HP:0001976)1.68551105
101Blindness (HP:0000618)1.68124447
102Abnormal protein glycosylation (HP:0012346)1.67618311
103Abnormal glycosylation (HP:0012345)1.67618311
104Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.67618311
105Abnormal protein N-linked glycosylation (HP:0012347)1.67618311
106Sensory axonal neuropathy (HP:0003390)1.66135298
107Unsteady gait (HP:0002317)1.66082276
108Microretrognathia (HP:0000308)1.65666617
109Abnormality of the ileum (HP:0001549)1.65304703
110Medial flaring of the eyebrow (HP:0010747)1.64891026
111Abnormal pupillary function (HP:0007686)1.64771503
112Megaloblastic anemia (HP:0001889)1.64722041
113Abnormality of methionine metabolism (HP:0010901)1.64378754
114Nephrogenic diabetes insipidus (HP:0009806)1.63660434
115Nausea (HP:0002018)1.63148548
116Postnatal microcephaly (HP:0005484)1.62758571
117Gliosis (HP:0002171)1.62603309
118Multiple enchondromatosis (HP:0005701)1.62562485
119Abnormal urine phosphate concentration (HP:0012599)1.61563426
120Abnormality of midbrain morphology (HP:0002418)1.61186154
121Molar tooth sign on MRI (HP:0002419)1.61186154
122Methylmalonic aciduria (HP:0012120)1.60909925
123Pancreatic fibrosis (HP:0100732)1.60734694
124Rib fusion (HP:0000902)1.57004193
125Triphalangeal thumb (HP:0001199)1.56714797
126Opisthotonus (HP:0002179)1.56492982
127Gout (HP:0001997)1.55023772

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK25.73314242
2STK165.35010697
3NME24.01797751
4BUB13.81496289
5EIF2AK13.08008386
6NME12.83215382
7TLK12.58141002
8WEE12.53400296
9VRK12.43624816
10EIF2AK32.41931607
11PBK2.20129484
12SRPK11.99542725
13NEK11.95010582
14CASK1.94985388
15TAF11.93883570
16PLK41.92531117
17PIM21.87634372
18TESK21.78557913
19MST41.72175990
20IRAK31.68140281
21ARAF1.65926411
22LIMK11.52075792
23BRAF1.41985787
24ZAK1.40767042
25EIF2AK21.32998746
26TSSK61.23397572
27TESK11.23045227
28MKNK11.20658363
29DYRK21.17460842
30AURKA1.14478495
31OXSR11.13560929
32CDC71.11448134
33CDK191.10965659
34MKNK21.08005693
35ABL21.06706710
36MAP3K121.05725367
37IRAK41.05061841
38BRSK21.04930777
39GRK51.04238637
40PLK11.03164659
41BMPR1B1.02761188
42STK391.02281977
43CCNB11.01937529
44PNCK1.00542123
45PLK30.99828103
46TNIK0.99177988
47GRK70.97722348
48BCKDK0.94668094
49ADRBK20.93794601
50DYRK30.92964832
51NEK60.91260681
52MAP3K110.87283256
53BCR0.84810045
54STK40.82793865
55ACVR1B0.82220813
56TTK0.81645920
57BRSK10.78050239
58CSNK2A10.77827725
59AURKB0.77797358
60CHEK20.76528271
61PLK20.76421506
62MYLK0.72366258
63CSNK2A20.72030859
64BLK0.71884523
65PAK10.69888469
66LRRK20.69881490
67RPS6KA50.69590704
68CDK70.69280770
69KDR0.67387403
70PASK0.67341513
71DAPK10.62237600
72CSNK1G10.61208183
73GRK10.59054256
74IRAK20.58553809
75BMPR20.58229260
76CSNK1G30.58178440
77CDK80.57829363
78PRKCG0.57164540
79NUAK10.56019898
80PRKCI0.55483264
81YES10.54089509
82CHEK10.53584269
83CSNK1G20.53129355
84MAPK130.53056194
85CAMK2B0.52897338
86PDK20.52255898
87PHKG10.50761537
88PHKG20.50761537
89OBSCN0.50701518
90CSNK1E0.49400540
91MUSK0.48646877
92PIK3CG0.46590256
93IRAK10.45620529
94ATR0.44553654
95PIM10.44522028
96EPHA20.44510605
97CDK140.44323924
98WNK30.43831913
99MAP4K20.42926784
100MAP3K80.41944818
101ILK0.41655460
102ADRBK10.40875253
103WNK40.40191492
104PINK10.40184327
105MAP2K70.38730695
106ALK0.37768549
107CDK11A0.37551141
108AKT30.37547899
109INSRR0.37004661
110PAK40.36591038
111CLK10.36367555
112CDK180.35994542
113TEC0.35882521
114TXK0.35841944
115DAPK30.34830518
116CDK150.34569111
117ATM0.33934165
118CAMK2G0.33774942
119MAPKAPK50.33690407
120RPS6KA40.33211374
121CSNK1A1L0.32706759
122MAP2K20.31913075
123LYN0.31872255
124TRIM280.31551318
125CSNK1A10.31429451
126MARK10.31039419
127RPS6KB20.28252247
128CDK20.26806438
129CDK10.26384130
130CDK30.26126250
131CDK40.25615735

Predicted pathways (KEGG)

RankGene SetZ-score
1* Ribosome_Homo sapiens_hsa030104.84181076
2Proteasome_Homo sapiens_hsa030504.69214471
3Oxidative phosphorylation_Homo sapiens_hsa001904.49068763
4RNA polymerase_Homo sapiens_hsa030203.85123882
5Parkinsons disease_Homo sapiens_hsa050123.81957987
6DNA replication_Homo sapiens_hsa030302.99308512
7Huntingtons disease_Homo sapiens_hsa050162.91299516
8Alzheimers disease_Homo sapiens_hsa050102.65919033
9Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.58570389
10Protein export_Homo sapiens_hsa030602.50664748
11Pyrimidine metabolism_Homo sapiens_hsa002402.49496565
12Mismatch repair_Homo sapiens_hsa034302.44004705
13Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.36926395
14Spliceosome_Homo sapiens_hsa030402.16733089
15Nucleotide excision repair_Homo sapiens_hsa034202.11674322
16Homologous recombination_Homo sapiens_hsa034402.02728661
17Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.84173620
18Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.67628751
19Basal transcription factors_Homo sapiens_hsa030221.62092130
20RNA transport_Homo sapiens_hsa030131.59534282
21Base excision repair_Homo sapiens_hsa034101.49400950
22Purine metabolism_Homo sapiens_hsa002301.44137701
23Fanconi anemia pathway_Homo sapiens_hsa034601.43209270
24Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.30656905
25Folate biosynthesis_Homo sapiens_hsa007901.30123357
26Collecting duct acid secretion_Homo sapiens_hsa049661.25797659
27Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.25640644
28Cardiac muscle contraction_Homo sapiens_hsa042601.25426275
29Fatty acid elongation_Homo sapiens_hsa000621.14237423
30One carbon pool by folate_Homo sapiens_hsa006701.09680980
31Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.08307242
32RNA degradation_Homo sapiens_hsa030181.05690287
33Vitamin B6 metabolism_Homo sapiens_hsa007501.02080003
34Sulfur relay system_Homo sapiens_hsa041221.00944680
35Glutathione metabolism_Homo sapiens_hsa004801.00497327
36Non-homologous end-joining_Homo sapiens_hsa034500.97952795
37Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.95613319
38Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.94060849
39Cell cycle_Homo sapiens_hsa041100.91893728
40Steroid biosynthesis_Homo sapiens_hsa001000.88567902
41Metabolic pathways_Homo sapiens_hsa011000.84710300
42Arachidonic acid metabolism_Homo sapiens_hsa005900.79864395
43Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.78954145
44Graft-versus-host disease_Homo sapiens_hsa053320.76013854
45Vibrio cholerae infection_Homo sapiens_hsa051100.75591578
46Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.75436683
47Rheumatoid arthritis_Homo sapiens_hsa053230.71484159
482-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.70167130
49Regulation of autophagy_Homo sapiens_hsa041400.69487000
50Epstein-Barr virus infection_Homo sapiens_hsa051690.69129084
51SNARE interactions in vesicular transport_Homo sapiens_hsa041300.66178152
52Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.65952911
53Selenocompound metabolism_Homo sapiens_hsa004500.65693382
54Linoleic acid metabolism_Homo sapiens_hsa005910.65598007
55Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.65345853
56Systemic lupus erythematosus_Homo sapiens_hsa053220.64583050
57Cysteine and methionine metabolism_Homo sapiens_hsa002700.64431047
58Phototransduction_Homo sapiens_hsa047440.60941480
59Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.56988891
60Ether lipid metabolism_Homo sapiens_hsa005650.55658510
61Pentose phosphate pathway_Homo sapiens_hsa000300.53487739
62Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.52449355
63Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.51001438
64Pyruvate metabolism_Homo sapiens_hsa006200.49891280
65Arginine and proline metabolism_Homo sapiens_hsa003300.47359654
66Phenylalanine metabolism_Homo sapiens_hsa003600.47203461
67Phagosome_Homo sapiens_hsa041450.46833555
68Allograft rejection_Homo sapiens_hsa053300.46103947
69Tyrosine metabolism_Homo sapiens_hsa003500.46094021
70p53 signaling pathway_Homo sapiens_hsa041150.45925632
71Asthma_Homo sapiens_hsa053100.44677175
72Sulfur metabolism_Homo sapiens_hsa009200.43631744
73Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.43023885
74Carbon metabolism_Homo sapiens_hsa012000.42279476
75alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.41569906
76Butanoate metabolism_Homo sapiens_hsa006500.41514523
77Autoimmune thyroid disease_Homo sapiens_hsa053200.41185393
78mRNA surveillance pathway_Homo sapiens_hsa030150.40767753
79Sphingolipid metabolism_Homo sapiens_hsa006000.40205082
80Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.39646589
81Tryptophan metabolism_Homo sapiens_hsa003800.39366236
82Pentose and glucuronate interconversions_Homo sapiens_hsa000400.37905915
83Drug metabolism - other enzymes_Homo sapiens_hsa009830.37140503
84Cyanoamino acid metabolism_Homo sapiens_hsa004600.37090996
85Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.34245627
86Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.32099731
87Chemical carcinogenesis_Homo sapiens_hsa052040.31518746
88Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.27291622
89Peroxisome_Homo sapiens_hsa041460.26967695
90Oocyte meiosis_Homo sapiens_hsa041140.26884597
91Type I diabetes mellitus_Homo sapiens_hsa049400.26593841
92Vitamin digestion and absorption_Homo sapiens_hsa049770.25815907
93Fatty acid degradation_Homo sapiens_hsa000710.24321946
94Caffeine metabolism_Homo sapiens_hsa002320.23141274
95Legionellosis_Homo sapiens_hsa051340.22619070
96Maturity onset diabetes of the young_Homo sapiens_hsa049500.22357612
97Alcoholism_Homo sapiens_hsa050340.22039680
98Biosynthesis of amino acids_Homo sapiens_hsa012300.21620929
99Primary bile acid biosynthesis_Homo sapiens_hsa001200.19235046
100Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.18902338
101Fructose and mannose metabolism_Homo sapiens_hsa000510.16682720
102Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.16463650
103Propanoate metabolism_Homo sapiens_hsa006400.16257162
104Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.15224105
105Fatty acid metabolism_Homo sapiens_hsa012120.14669702
106Retinol metabolism_Homo sapiens_hsa008300.14594285
107Mineral absorption_Homo sapiens_hsa049780.14080176
108Primary immunodeficiency_Homo sapiens_hsa053400.13244253
109Synaptic vesicle cycle_Homo sapiens_hsa047210.12153497
110Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.11954712
111Nicotine addiction_Homo sapiens_hsa050330.10802194
112Basal cell carcinoma_Homo sapiens_hsa052170.10695567
113Antigen processing and presentation_Homo sapiens_hsa046120.10656205
114N-Glycan biosynthesis_Homo sapiens_hsa005100.10378043
115Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.10122131
116beta-Alanine metabolism_Homo sapiens_hsa004100.09976992
117Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.08814209
118Intestinal immune network for IgA production_Homo sapiens_hsa046720.08665019
119Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.08479140
120Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.07907124
121Renin-angiotensin system_Homo sapiens_hsa046140.07579018
122Nitrogen metabolism_Homo sapiens_hsa009100.05467134

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