MRPL21

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. Multiple transcript variants encoding different isoforms were identified through sequence analysis although some may be subject to nonsense-mediated decay (NMD). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ribosomal small subunit assembly (GO:0000028)6.35806044
2ribosomal small subunit biogenesis (GO:0042274)6.07335077
3viral transcription (GO:0019083)5.99028518
4maturation of SSU-rRNA (GO:0030490)5.92698530
5translational termination (GO:0006415)5.84067027
6mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.42354303
7ribosomal large subunit biogenesis (GO:0042273)5.17188967
8SRP-dependent cotranslational protein targeting to membrane (GO:0006614)5.16041032
9ATP synthesis coupled proton transport (GO:0015986)5.13514195
10energy coupled proton transport, down electrochemical gradient (GO:0015985)5.13514195
11cotranslational protein targeting to membrane (GO:0006613)5.09971847
12translational elongation (GO:0006414)5.08937080
13protein targeting to ER (GO:0045047)5.04779708
14proteasome assembly (GO:0043248)5.01920178
15DNA deamination (GO:0045006)4.80471392
16protein localization to endoplasmic reticulum (GO:0070972)4.78669902
17establishment of protein localization to endoplasmic reticulum (GO:0072599)4.78190220
18translational initiation (GO:0006413)4.71581778
19cellular protein complex disassembly (GO:0043624)4.69909104
20viral life cycle (GO:0019058)4.57883085
21nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.53562175
22transcription elongation from RNA polymerase III promoter (GO:0006385)4.52766400
23termination of RNA polymerase III transcription (GO:0006386)4.52766400
24* translation (GO:0006412)4.37711109
25ribonucleoprotein complex biogenesis (GO:0022613)4.37489320
26establishment of protein localization to mitochondrial membrane (GO:0090151)4.32430457
27negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.23782275
28regulation of mitochondrial translation (GO:0070129)4.09395718
29protein complex disassembly (GO:0043241)4.08778199
30mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.04993263
317-methylguanosine mRNA capping (GO:0006370)4.03357195
32protein localization to mitochondrion (GO:0070585)3.96851562
33RNA capping (GO:0036260)3.95063071
347-methylguanosine RNA capping (GO:0009452)3.95063071
35formation of translation preinitiation complex (GO:0001731)3.94622535
36positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.94620317
37macromolecular complex disassembly (GO:0032984)3.91748259
38rRNA processing (GO:0006364)3.89979827
39establishment of integrated proviral latency (GO:0075713)3.89864094
40regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.89841561
41cellular component biogenesis (GO:0044085)3.89560581
42anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.86752060
43negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.86602095
44negative regulation of ligase activity (GO:0051352)3.86602095
45spliceosomal snRNP assembly (GO:0000387)3.84704273
46regulation of cellular amino acid metabolic process (GO:0006521)3.83711243
47telomere maintenance via semi-conservative replication (GO:0032201)3.82548889
48DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.81810121
49cullin deneddylation (GO:0010388)3.81232226
50respiratory chain complex IV assembly (GO:0008535)3.79746232
51DNA strand elongation involved in DNA replication (GO:0006271)3.76415412
52GTP biosynthetic process (GO:0006183)3.75657444
53signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.74797652
54intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.74797652
55respiratory electron transport chain (GO:0022904)3.74528736
56signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.73656599
57signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.73656599
58signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.73656599
59rRNA metabolic process (GO:0016072)3.73645871
60mitochondrial respiratory chain complex I assembly (GO:0032981)3.73525930
61NADH dehydrogenase complex assembly (GO:0010257)3.73525930
62mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.73525930
63pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.71221341
64transcription-coupled nucleotide-excision repair (GO:0006283)3.70590266
65rRNA modification (GO:0000154)3.66305575
66signal transduction involved in DNA integrity checkpoint (GO:0072401)3.65644554
67signal transduction involved in DNA damage checkpoint (GO:0072422)3.65644554
68exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.65190691
69ATP biosynthetic process (GO:0006754)3.64972224
70electron transport chain (GO:0022900)3.64584511
71transcription elongation from RNA polymerase I promoter (GO:0006362)3.63449228
72nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.63431035
73signal transduction involved in cell cycle checkpoint (GO:0072395)3.61896385
74DNA strand elongation (GO:0022616)3.61758954
75protein deneddylation (GO:0000338)3.60822182
76purine nucleoside triphosphate biosynthetic process (GO:0009145)3.60284234
77purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.57818796
78nuclear-transcribed mRNA catabolic process (GO:0000956)3.55201859
79antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.54334619
80chaperone-mediated protein transport (GO:0072321)3.53412154
81deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.52054474
82cytochrome complex assembly (GO:0017004)3.51848738
83protein complex biogenesis (GO:0070271)3.51564579
84UTP biosynthetic process (GO:0006228)3.48867245
85ribosome biogenesis (GO:0042254)3.48009311
86DNA replication checkpoint (GO:0000076)3.47821392
87protein neddylation (GO:0045116)3.46898996
88guanosine-containing compound biosynthetic process (GO:1901070)3.45820338
89nucleobase biosynthetic process (GO:0046112)3.45389533
90termination of RNA polymerase I transcription (GO:0006363)3.44002574
91positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.43555410
92CENP-A containing nucleosome assembly (GO:0034080)3.40707630
93mitochondrial transport (GO:0006839)3.40685555
94inner mitochondrial membrane organization (GO:0007007)3.40319073
95ribosome assembly (GO:0042255)3.39897320
96spliceosomal complex assembly (GO:0000245)3.39806497
97transcription from RNA polymerase I promoter (GO:0006360)3.39758430
98purine nucleobase biosynthetic process (GO:0009113)3.38883433
99peptidyl-histidine modification (GO:0018202)3.38191918
100mitochondrial respiratory chain complex assembly (GO:0033108)3.36180326
101telomere maintenance via recombination (GO:0000722)3.36093195
102ribonucleoside triphosphate biosynthetic process (GO:0009201)3.35549030
103mRNA catabolic process (GO:0006402)3.35462526
104DNA replication initiation (GO:0006270)3.34539414
105establishment of protein localization to mitochondrion (GO:0072655)3.33244455
106pseudouridine synthesis (GO:0001522)3.33049525
107chromatin remodeling at centromere (GO:0031055)3.31390614
108antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.30853310
109oxidative phosphorylation (GO:0006119)3.28963115
110protein targeting to mitochondrion (GO:0006626)3.28684596
111transcription from mitochondrial promoter (GO:0006390)3.28523095
112positive regulation of ligase activity (GO:0051351)3.24641669
113hydrogen ion transmembrane transport (GO:1902600)3.23488409
114protein targeting to membrane (GO:0006612)3.22363002
115pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.19239360
116maturation of 5.8S rRNA (GO:0000460)3.18420210
117DNA damage response, detection of DNA damage (GO:0042769)3.17228020
118rRNA methylation (GO:0031167)3.16690813
119aerobic respiration (GO:0009060)3.14409858

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.90485044
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.70574587
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.65756404
4EST1_17652178_ChIP-ChIP_JURKAT_Human4.18779377
5* GABP_17652178_ChIP-ChIP_JURKAT_Human4.17012504
6* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.88178551
7EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.70017331
8* ETS1_20019798_ChIP-Seq_JURKAT_Human3.68870820
9SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.59585485
10CREB1_15753290_ChIP-ChIP_HEK293T_Human3.47783343
11E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.45369964
12HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.30733554
13MYC_18358816_ChIP-ChIP_MESCs_Mouse3.20561728
14MYC_19079543_ChIP-ChIP_MESCs_Mouse3.16136618
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.05715639
16NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.02895534
17CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.02588772
18MYC_19030024_ChIP-ChIP_MESCs_Mouse3.01396605
19E2F4_17652178_ChIP-ChIP_JURKAT_Human3.00772636
20HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.87643259
21VDR_23849224_ChIP-Seq_CD4+_Human2.67999225
22XRN2_22483619_ChIP-Seq_HELA_Human2.62456003
23FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.59451548
24* DCP1A_22483619_ChIP-Seq_HELA_Human2.44108965
25E2F1_18555785_ChIP-Seq_MESCs_Mouse2.31897844
26THAP11_20581084_ChIP-Seq_MESCs_Mouse2.31716650
27NELFA_20434984_ChIP-Seq_ESCs_Mouse2.31109582
28* FOXP3_21729870_ChIP-Seq_TREG_Human2.24868408
29ELK1_19687146_ChIP-ChIP_HELA_Human2.21894141
30TTF2_22483619_ChIP-Seq_HELA_Human2.19379221
31ELF1_17652178_ChIP-ChIP_JURKAT_Human2.18935408
32* YY1_21170310_ChIP-Seq_MESCs_Mouse2.12230387
33SRF_21415370_ChIP-Seq_HL-1_Mouse2.08955842
34FOXM1_23109430_ChIP-Seq_U2OS_Human2.04037432
35* GABP_19822575_ChIP-Seq_HepG2_Human1.98276769
36ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.92422344
37MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.92168161
38PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.90683152
39HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.89983583
40MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.86915331
41* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.79737508
42* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.75585328
43SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.69064726
44* POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.66922245
45* MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.65014493
46HOXB4_20404135_ChIP-ChIP_EML_Mouse1.63188303
47* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.60340257
48* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.59112946
49ELK1_22589737_ChIP-Seq_MCF10A_Human1.57838286
50POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.57108934
51NANOG_18555785_ChIP-Seq_MESCs_Mouse1.55454980
52TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.45854458
53TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.41649711
54* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.38987745
55MYC_18940864_ChIP-ChIP_HL60_Human1.36013532
56* CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.35707176
57CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.35433577
58AR_21909140_ChIP-Seq_LNCAP_Human1.34060641
59CIITA_25753668_ChIP-Seq_RAJI_Human1.31374867
60ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.29124754
61E2F1_21310950_ChIP-Seq_MCF-7_Human1.27448975
62ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.26284226
63ZFX_18555785_ChIP-Seq_MESCs_Mouse1.24993654
64RBPJ_22232070_ChIP-Seq_NCS_Mouse1.24846312
65KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.23799924
66ERG_20887958_ChIP-Seq_HPC-7_Mouse1.22634198
67PADI4_21655091_ChIP-ChIP_MCF-7_Human1.21560928
68BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.18362449
69CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.17122407
70ZNF263_19887448_ChIP-Seq_K562_Human1.15580383
71KDM5A_27292631_Chip-Seq_BREAST_Human1.12256988
72CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.11391168
73CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.05864816
74NOTCH1_21737748_ChIP-Seq_TLL_Human1.04925666
75* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.03296166
76SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.02716138
77IRF1_19129219_ChIP-ChIP_H3396_Human1.02494511
78TP63_19390658_ChIP-ChIP_HaCaT_Human0.99648867
79PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.99119709
80SOX2_18555785_ChIP-Seq_MESCs_Mouse0.98673727
81CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.91561451
82FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.90444738
83FOXP1_21924763_ChIP-Seq_HESCs_Human0.89929221
84KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.86739175
85POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.86366688
86SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.86183726
87SOX17_20123909_ChIP-Seq_XEN_Mouse0.85026880
88CTCF_18555785_ChIP-Seq_MESCs_Mouse0.83491379
89SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.83263567
90* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.82596968
91OCT4_18692474_ChIP-Seq_MEFs_Mouse0.81613386
92SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.80852468
93SOX2_18692474_ChIP-Seq_MEFs_Mouse0.80453423
94TBX5_21415370_ChIP-Seq_HL-1_Mouse0.80155629
95NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.79889406
96ELF5_23300383_ChIP-Seq_T47D_Human0.79208616
97STAT3_1855785_ChIP-Seq_MESCs_Mouse0.78770351
98HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.76334321
99TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.74326095
100CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.74033996
101KLF4_18555785_ChIP-Seq_MESCs_Mouse0.73003212
102TFEB_21752829_ChIP-Seq_HELA_Human0.72361712
103SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.72299675
104FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.72224649
105SOX2_16153702_ChIP-ChIP_HESCs_Human0.71786992
106* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.71678295
107SRY_22984422_ChIP-ChIP_TESTIS_Rat0.71134130
108DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.70004031
109SPI1_23547873_ChIP-Seq_NB4_Human0.69538525
110POU5F1_16153702_ChIP-ChIP_HESCs_Human0.68670038
111* HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.68189829
112SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.66157688
113NANOG_16153702_ChIP-ChIP_HESCs_Human0.65287120
114KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.65132637

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.62671852
2MP0004957_abnormal_blastocyst_morpholog4.33741067
3MP0009379_abnormal_foot_pigmentation4.31951650
4MP0010094_abnormal_chromosome_stability3.64936573
5MP0003111_abnormal_nucleus_morphology3.59529532
6MP0003077_abnormal_cell_cycle3.46414788
7MP0008058_abnormal_DNA_repair3.44857481
8MP0008057_abnormal_DNA_replication3.39616442
9MP0008932_abnormal_embryonic_tissue2.90875263
10MP0003718_maternal_effect2.54499934
11MP0003786_premature_aging2.36208764
12MP0003136_yellow_coat_color2.35906087
13MP0003123_paternal_imprinting2.19850670
14MP0001529_abnormal_vocalization2.17250304
15MP0008007_abnormal_cellular_replicative2.12221785
16MP0008877_abnormal_DNA_methylation2.06460625
17MP0006292_abnormal_olfactory_placode2.06078479
18MP0003806_abnormal_nucleotide_metabolis2.02308077
19MP0003186_abnormal_redox_activity1.93732296
20MP0006036_abnormal_mitochondrial_physio1.89873296
21MP0006035_abnormal_mitochondrial_morpho1.89350275
22MP0003315_abnormal_perineum_morphology1.79297233
23MP0002132_abnormal_respiratory_system1.65417906
24MP0009697_abnormal_copulation1.54551673
25MP0001730_embryonic_growth_arrest1.53093797
26MP0000350_abnormal_cell_proliferation1.44131395
27MP0002102_abnormal_ear_morphology1.40005596
28MP0008789_abnormal_olfactory_epithelium1.39965532
29MP0002160_abnormal_reproductive_system1.37958213
30MP0000566_synostosis1.37721467
31MP0001905_abnormal_dopamine_level1.29238439
32MP0001727_abnormal_embryo_implantation1.28853836
33MP0000313_abnormal_cell_death1.27580254
34MP0003567_abnormal_fetal_cardiomyocyte1.24817649
35MP0003011_delayed_dark_adaptation1.23515325
36MP0001188_hyperpigmentation1.23280641
37MP0002822_catalepsy1.22096023
38MP0002938_white_spotting1.19853411
39MP0005389_reproductive_system_phenotype1.17963573
40MP0002837_dystrophic_cardiac_calcinosis1.17681807
41MP0000490_abnormal_crypts_of1.16418871
42MP0009333_abnormal_splenocyte_physiolog1.15368074
43MP0002396_abnormal_hematopoietic_system1.13495370
44MP0000358_abnormal_cell_content/1.12781217
45MP0002210_abnormal_sex_determination1.10971818
46MP0004381_abnormal_hair_follicle1.10670737
47MP0005075_abnormal_melanosome_morpholog1.10403628
48MP0002277_abnormal_respiratory_mucosa1.09333492
49MP0008995_early_reproductive_senescence1.09088153
50MP0002163_abnormal_gland_morphology1.09073649
51MP0000049_abnormal_middle_ear1.08943378
52MP0003941_abnormal_skin_development1.08798461
53MP0005379_endocrine/exocrine_gland_phen1.08438264
54MP0005646_abnormal_pituitary_gland1.06821412
55MP0004133_heterotaxia1.05661864
56MP0003880_abnormal_central_pattern1.05464372
57MP0001697_abnormal_embryo_size1.04758257
58MP0001986_abnormal_taste_sensitivity1.04342377
59MP0000372_irregular_coat_pigmentation1.02427706
60MP0003121_genomic_imprinting0.96728158
61MP0002080_prenatal_lethality0.96464390
62MP0004145_abnormal_muscle_electrophysio0.95601888
63MP0005499_abnormal_olfactory_system0.95363901
64MP0005394_taste/olfaction_phenotype0.95363901
65MP0001853_heart_inflammation0.94413155
66MP0003646_muscle_fatigue0.92399246
67MP0001919_abnormal_reproductive_system0.91962484
68MP0005332_abnormal_amino_acid0.90591952
69MP0005380_embryogenesis_phenotype0.90433406
70MP0001672_abnormal_embryogenesis/_devel0.90433406
71MP0001764_abnormal_homeostasis0.90336053
72MP0001145_abnormal_male_reproductive0.90131942
73MP0000750_abnormal_muscle_regeneration0.89493089
74MP0000858_altered_metastatic_potential0.88399804
75MP0008875_abnormal_xenobiotic_pharmacok0.87852088
76MP0002019_abnormal_tumor_incidence0.87591748
77MP0002234_abnormal_pharynx_morphology0.87556565
78MP0002638_abnormal_pupillary_reflex0.86703855
79MP0009046_muscle_twitch0.86089546
80MP0002653_abnormal_ependyma_morphology0.85578812
81MP0005084_abnormal_gallbladder_morpholo0.85498513
82MP0005408_hypopigmentation0.85029944
83MP0010030_abnormal_orbit_morphology0.84347649
84MP0003938_abnormal_ear_development0.84197423
85MP0008872_abnormal_physiological_respon0.81590383
86MP0002095_abnormal_skin_pigmentation0.81529882
87MP0004142_abnormal_muscle_tone0.81457740
88MP0002085_abnormal_embryonic_tissue0.80607276
89MP0001293_anophthalmia0.80336103
90MP0000015_abnormal_ear_pigmentation0.79906229
91MP0002751_abnormal_autonomic_nervous0.79794907
92MP0000653_abnormal_sex_gland0.78321110
93MP0000678_abnormal_parathyroid_gland0.76801090
94MP0001929_abnormal_gametogenesis0.76072811
95MP0002090_abnormal_vision0.75148286
96MP0000631_abnormal_neuroendocrine_gland0.73979542
97MP0005636_abnormal_mineral_homeostasis0.73232724
98MP0008260_abnormal_autophagy0.71791698
99MP0003137_abnormal_impulse_conducting0.71660308
100MP0001119_abnormal_female_reproductive0.71377438
101MP0003984_embryonic_growth_retardation0.70783874
102MP0005266_abnormal_metabolism0.69659270
103MP0003763_abnormal_thymus_physiology0.69460849
104MP0001881_abnormal_mammary_gland0.69282377
105MP0002088_abnormal_embryonic_growth/wei0.68834625
106MP0000703_abnormal_thymus_morphology0.68634069
107MP0001542_abnormal_bone_strength0.68071075
108MP0001485_abnormal_pinna_reflex0.66383450
109MP0003698_abnormal_male_reproductive0.66296382
110MP0000749_muscle_degeneration0.66126831
111MP0005330_cardiomyopathy0.63768928
112MP0001968_abnormal_touch/_nociception0.62924371
113MP0005501_abnormal_skin_physiology0.62891256
114MP0002148_abnormal_hypersensitivity_rea0.62520326
115MP0006072_abnormal_retinal_apoptosis0.61476921
116MP0000647_abnormal_sebaceous_gland0.60684671
117MP0000762_abnormal_tongue_morphology0.60589086
118MP0005174_abnormal_tail_pigmentation0.60558191
119MP0002736_abnormal_nociception_after0.60460399
120MP0002722_abnormal_immune_system0.60185566
121MP0006276_abnormal_autonomic_nervous0.59492886
122MP0001286_abnormal_eye_development0.58310015
123MP0003937_abnormal_limbs/digits/tail_de0.58239780
124MP0004147_increased_porphyrin_level0.57884928
125MP0005409_darkened_coat_color0.57165144
126MP0003890_abnormal_embryonic-extraembry0.55357875
127MP0004808_abnormal_hematopoietic_stem0.54908757

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.56398963
2Abnormality of cells of the erythroid lineage (HP:0012130)5.18708110
3Reticulocytopenia (HP:0001896)5.14688536
4Mitochondrial inheritance (HP:0001427)4.98090293
5Abnormal mitochondria in muscle tissue (HP:0008316)4.94345194
6Abnormal number of erythroid precursors (HP:0012131)4.79560280
7Increased CSF lactate (HP:0002490)4.51387268
8Progressive macrocephaly (HP:0004481)4.49147979
9Hepatocellular necrosis (HP:0001404)4.34662219
10Acute encephalopathy (HP:0006846)4.33683149
11Increased hepatocellular lipid droplets (HP:0006565)4.28560615
12Macrocytic anemia (HP:0001972)3.91235937
13Hepatic necrosis (HP:0002605)3.81946367
14Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.81197969
15Birth length less than 3rd percentile (HP:0003561)3.75936872
16Lipid accumulation in hepatocytes (HP:0006561)3.72237103
17Decreased activity of mitochondrial respiratory chain (HP:0008972)3.66901829
18Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.66901829
19Aplasia/Hypoplasia of the sacrum (HP:0008517)3.63814207
20Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.58501563
213-Methylglutaconic aciduria (HP:0003535)3.54425303
22Increased serum lactate (HP:0002151)3.53883606
23Pallor (HP:0000980)3.48610081
24Increased serum pyruvate (HP:0003542)3.35486893
25Abnormality of glycolysis (HP:0004366)3.35486893
26Exertional dyspnea (HP:0002875)3.31162208
27Exercise intolerance (HP:0003546)3.20541466
28Renal Fanconi syndrome (HP:0001994)3.20239835
29Aplastic anemia (HP:0001915)3.12530099
30Breast hypoplasia (HP:0003187)3.09699807
31Respiratory failure (HP:0002878)3.03329517
32Cerebral hypomyelination (HP:0006808)3.02882640
33Rough bone trabeculation (HP:0100670)3.00286457
34Lactic acidosis (HP:0003128)3.00144238
35Oral leukoplakia (HP:0002745)3.00110327
36Cerebral edema (HP:0002181)2.99985498
37Respiratory difficulties (HP:0002880)2.80707123
38Increased intramyocellular lipid droplets (HP:0012240)2.74910043
39Optic disc pallor (HP:0000543)2.71465788
40Lethargy (HP:0001254)2.71307993
41Microretrognathia (HP:0000308)2.62885659
42Carpal bone hypoplasia (HP:0001498)2.58742783
43Leukodystrophy (HP:0002415)2.54493834
44Abnormality of the anterior horn cell (HP:0006802)2.52850214
45Degeneration of anterior horn cells (HP:0002398)2.52850214
46Colon cancer (HP:0003003)2.50850820
47Patellar aplasia (HP:0006443)2.47862206
48Absent thumb (HP:0009777)2.44868829
4911 pairs of ribs (HP:0000878)2.44538157
50Abnormality of the preputium (HP:0100587)2.41533896
51Type I transferrin isoform profile (HP:0003642)2.39992940
52Methylmalonic aciduria (HP:0012120)2.35314455
53Aplasia/Hypoplasia of the patella (HP:0006498)2.34694088
54Abnormal trabecular bone morphology (HP:0100671)2.31653004
55Methylmalonic acidemia (HP:0002912)2.31391162
56Microvesicular hepatic steatosis (HP:0001414)2.30864621
57Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.30535699
58X-linked dominant inheritance (HP:0001423)2.29599867
59CNS demyelination (HP:0007305)2.23111681
60Abnormal protein N-linked glycosylation (HP:0012347)2.22541866
61Abnormal protein glycosylation (HP:0012346)2.22541866
62Abnormal glycosylation (HP:0012345)2.22541866
63Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.22541866
64Triphalangeal thumb (HP:0001199)2.22093053
65Abnormality of methionine metabolism (HP:0010901)2.21320299
66Chromsome breakage (HP:0040012)2.20860409
67Premature graying of hair (HP:0002216)2.20836611
68Reduced antithrombin III activity (HP:0001976)2.19992528
69Generalized aminoaciduria (HP:0002909)2.18323178
70Increased muscle lipid content (HP:0009058)2.17998260
71Meckel diverticulum (HP:0002245)2.17618972
72Abnormality of urine glucose concentration (HP:0011016)2.16462378
73Glycosuria (HP:0003076)2.16462378
74Secondary amenorrhea (HP:0000869)2.15507767
75Chromosomal breakage induced by crosslinking agents (HP:0003221)2.11616326
76Trismus (HP:0000211)2.10577275
77Hyperphosphaturia (HP:0003109)2.09411053
78Absent radius (HP:0003974)2.09219381
79Abnormality of the ileum (HP:0001549)2.08624229
80Horseshoe kidney (HP:0000085)2.07205444
81Progressive muscle weakness (HP:0003323)2.03215190
82Testicular atrophy (HP:0000029)2.02538104
83Multiple enchondromatosis (HP:0005701)2.00296770
84Abnormal hemoglobin (HP:0011902)1.99959731
85Abnormality of placental membranes (HP:0011409)1.99887129
86Amniotic constriction ring (HP:0009775)1.99887129
87Patent foramen ovale (HP:0001655)1.98979524
88Hyperglycinemia (HP:0002154)1.98881912
89Abnormality of renal resorption (HP:0011038)1.97448929
90Absent forearm bone (HP:0003953)1.97383930
91Aplasia involving forearm bones (HP:0009822)1.97383930
92Abnormality of serum amino acid levels (HP:0003112)1.97247473
93Cleft eyelid (HP:0000625)1.93183438
94Type 2 muscle fiber atrophy (HP:0003554)1.92256152
95Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.91935756
96Aplasia/hypoplasia of the uterus (HP:0008684)1.91868043
97Emotional lability (HP:0000712)1.89932019
98Cellular immunodeficiency (HP:0005374)1.89568502
99Pancytopenia (HP:0001876)1.88767371
100Hypoplasia of the radius (HP:0002984)1.88330399
101Dicarboxylic aciduria (HP:0003215)1.88320183
102Abnormality of dicarboxylic acid metabolism (HP:0010995)1.88320183
103Duplicated collecting system (HP:0000081)1.86717415
104Muscle fiber atrophy (HP:0100295)1.85165409
105Sparse eyelashes (HP:0000653)1.84950697
106Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.83239629
107Abnormality of alanine metabolism (HP:0010916)1.83239629
108Hyperalaninemia (HP:0003348)1.83239629
109Parakeratosis (HP:0001036)1.83225781
110Myokymia (HP:0002411)1.82845778
111Selective tooth agenesis (HP:0001592)1.81734780
112Progressive external ophthalmoplegia (HP:0000590)1.80292361
113Blindness (HP:0000618)1.79124068
114Abnormality of chromosome stability (HP:0003220)1.78470094
115Congenital, generalized hypertrichosis (HP:0004540)1.77813917
116Abnormality of aromatic amino acid family metabolism (HP:0004338)1.77440613
117Bone marrow hypocellularity (HP:0005528)1.77324807
118CNS hypomyelination (HP:0003429)1.75682265
119Depressed nasal ridge (HP:0000457)1.75009668
120Glossoptosis (HP:0000162)1.74022411
121Aplasia/Hypoplasia of the uvula (HP:0010293)1.73381881
122Premature ovarian failure (HP:0008209)1.72283282
123Abnormality of aspartate family amino acid metabolism (HP:0010899)1.71582148
124Gliosis (HP:0002171)1.70934522
125Megaloblastic anemia (HP:0001889)1.69727376
126Poor suck (HP:0002033)1.69433895
127Stenosis of the external auditory canal (HP:0000402)1.68687142
128Aplasia/Hypoplasia involving the musculature (HP:0001460)1.67721406
129Pancreatic cysts (HP:0001737)1.66829111
130Vomiting (HP:0002013)1.64868592
131Nausea (HP:0002018)1.63964914
132Progressive microcephaly (HP:0000253)1.63225711
133Facial cleft (HP:0002006)1.62708612
134Gout (HP:0001997)1.60905953
135Abnormal urine phosphate concentration (HP:0012599)1.60783194
136Abnormality of the labia minora (HP:0012880)1.60331430
137Pancreatic fibrosis (HP:0100732)1.57764449

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK24.91619293
2BUB14.77759324
3NME24.03723523
4STK163.84966654
5EIF2AK13.57510876
6WEE13.48327587
7SRPK13.05471846
8NME12.77730833
9VRK12.29972099
10EIF2AK32.18832994
11PLK42.16148365
12CDC72.08891079
13PDK22.05217467
14TSSK62.03903332
15TLK11.95269842
16PBK1.81134783
17PIM21.81004750
18MST41.77811074
19ACVR1B1.65521185
20MKNK11.54866290
21TESK21.54853227
22BRAF1.53074734
23ARAF1.51845952
24PLK11.45198898
25IRAK31.42581791
26ZAK1.40900457
27TTK1.40727489
28CCNB11.35528308
29AURKB1.35204882
30PLK31.34168517
31NUAK11.33928101
32BRSK21.27807932
33MAP3K121.26898658
34AURKA1.23235383
35CDK81.18796296
36DYRK21.16984124
37RPS6KB21.14442917
38TRIM281.08409436
39MKNK21.03897280
40EIF2AK21.03754609
41MYLK1.01132638
42DYRK31.01120130
43BCKDK1.00983188
44BMPR1B1.00555511
45MAP4K21.00471413
46IRAK41.00325531
47CDK70.96772507
48PASK0.94919494
49NEK10.94678275
50ATR0.93326083
51RPS6KA50.88663882
52TAF10.87900134
53STK38L0.87238473
54LIMK10.86362842
55RPS6KA40.84330341
56SCYL20.83764304
57CSNK2A10.83709407
58EPHA20.82563195
59KDR0.82415617
60CASK0.81282281
61WNK30.80679113
62CSNK2A20.78534741
63CSNK1G20.77810595
64CSNK1G10.76066580
65ABL20.75731444
66BRSK10.73721482
67DAPK10.71958452
68CHEK20.71428490
69NEK20.70884670
70CDK190.70023650
71PAK10.67471673
72TESK10.66380561
73CSNK1A1L0.64468058
74PRKCI0.63549349
75PLK20.61344458
76PNCK0.61183777
77ADRBK20.59505042
78STK240.58821829
79ILK0.58202886
80LRRK20.57926240
81MAPKAPK30.57636245
82MINK10.54607357
83PINK10.54417525
84OBSCN0.53659146
85CHEK10.53138123
86BCR0.52826347
87BMPR20.51769482
88MAP3K110.50837734
89AKT30.50276027
90STK40.49257286
91MAP3K80.49054444
92YES10.48434561
93WNK40.47755578
94CSNK1E0.45598058
95PAK40.45417507
96PIM10.45020444
97TAOK20.44183404
98MUSK0.43864338
99PHKG10.43471286
100PHKG20.43471286
101GRK70.42344014
102TGFBR10.42325962
103PRKCG0.39267828
104TNIK0.38672633
105MST1R0.37255316
106AKT20.36663588
107CLK10.36583142
108MAPKAPK50.36291277
109GRK10.36243332
110ATM0.36061698
111CDK140.34516332
112CSNK1A10.32959286
113MAP3K40.32498741
114CDK20.32082222
115PDK40.31137480
116PDK30.31137480
117CDK11A0.30651177
118BLK0.30436355
119TEC0.29884480
120CAMK2G0.29357638
121MAP2K60.29236854
122CDK10.28958950
123CDK180.28926297
124CDK150.28363601
125MAPK130.27795206
126TXK0.27695232
127MAP2K70.25628822
128CDK40.23851699
129LYN0.21656622
130CSNK1G30.20169050
131DAPK30.19934684

Predicted pathways (KEGG)

RankGene SetZ-score
1* Ribosome_Homo sapiens_hsa030105.55902111
2Proteasome_Homo sapiens_hsa030504.74177970
3RNA polymerase_Homo sapiens_hsa030204.15810453
4Oxidative phosphorylation_Homo sapiens_hsa001903.60823157
5DNA replication_Homo sapiens_hsa030303.54479960
6Parkinsons disease_Homo sapiens_hsa050123.21488310
7Mismatch repair_Homo sapiens_hsa034303.20080162
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.16601794
9Spliceosome_Homo sapiens_hsa030402.95603941
10Pyrimidine metabolism_Homo sapiens_hsa002402.72891484
11Huntingtons disease_Homo sapiens_hsa050162.57516758
12Homologous recombination_Homo sapiens_hsa034402.50513605
13Nucleotide excision repair_Homo sapiens_hsa034202.49510235
14RNA transport_Homo sapiens_hsa030132.24734491
15Protein export_Homo sapiens_hsa030602.18468559
16Alzheimers disease_Homo sapiens_hsa050102.18243103
17Base excision repair_Homo sapiens_hsa034102.13847735
18Basal transcription factors_Homo sapiens_hsa030221.95540530
19Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.87953132
20RNA degradation_Homo sapiens_hsa030181.72784238
21Fanconi anemia pathway_Homo sapiens_hsa034601.72750198
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.67478161
23One carbon pool by folate_Homo sapiens_hsa006701.55286031
24Purine metabolism_Homo sapiens_hsa002301.54047556
25Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.50441746
26Non-homologous end-joining_Homo sapiens_hsa034501.50366235
27Cell cycle_Homo sapiens_hsa041101.48499774
28Cardiac muscle contraction_Homo sapiens_hsa042601.15210182
29Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.11322473
30Sulfur metabolism_Homo sapiens_hsa009201.07764287
31Epstein-Barr virus infection_Homo sapiens_hsa051691.01299155
32Propanoate metabolism_Homo sapiens_hsa006400.97397836
33Folate biosynthesis_Homo sapiens_hsa007900.88609309
34Systemic lupus erythematosus_Homo sapiens_hsa053220.88142787
35Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.86183649
36mRNA surveillance pathway_Homo sapiens_hsa030150.86100905
37Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.85271564
38Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.84183136
39p53 signaling pathway_Homo sapiens_hsa041150.83595450
40Glutathione metabolism_Homo sapiens_hsa004800.79751954
41Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.78428427
42Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.74469237
43Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.70600919
44Cysteine and methionine metabolism_Homo sapiens_hsa002700.68761296
45Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.68049444
46Peroxisome_Homo sapiens_hsa041460.64536178
47Metabolic pathways_Homo sapiens_hsa011000.63347358
48Pentose and glucuronate interconversions_Homo sapiens_hsa000400.59805618
49Drug metabolism - other enzymes_Homo sapiens_hsa009830.58841625
50Pentose phosphate pathway_Homo sapiens_hsa000300.58678387
51Arachidonic acid metabolism_Homo sapiens_hsa005900.56999706
52Cyanoamino acid metabolism_Homo sapiens_hsa004600.56174010
53Sulfur relay system_Homo sapiens_hsa041220.55242573
54Vitamin B6 metabolism_Homo sapiens_hsa007500.53823424
55Butanoate metabolism_Homo sapiens_hsa006500.53268063
56Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.45123464
57Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.43863486
58Carbon metabolism_Homo sapiens_hsa012000.43538706
59Biosynthesis of amino acids_Homo sapiens_hsa012300.42948993
60Collecting duct acid secretion_Homo sapiens_hsa049660.42104091
61Oocyte meiosis_Homo sapiens_hsa041140.41449069
62SNARE interactions in vesicular transport_Homo sapiens_hsa041300.41136112
63Herpes simplex infection_Homo sapiens_hsa051680.38046380
64Fatty acid elongation_Homo sapiens_hsa000620.38015974
65Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.37195982
66Regulation of autophagy_Homo sapiens_hsa041400.36285647
67Fatty acid metabolism_Homo sapiens_hsa012120.35036307
68Chemical carcinogenesis_Homo sapiens_hsa052040.34699848
69Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.31624927
70Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.31268472
71Pyruvate metabolism_Homo sapiens_hsa006200.31127438
72Antigen processing and presentation_Homo sapiens_hsa046120.31040978
73Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.30726999
74Vibrio cholerae infection_Homo sapiens_hsa051100.30502309
75Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.30119641
762-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.30003753
77Tryptophan metabolism_Homo sapiens_hsa003800.29725968
78Fatty acid degradation_Homo sapiens_hsa000710.28652165
79beta-Alanine metabolism_Homo sapiens_hsa004100.28647056
80Alcoholism_Homo sapiens_hsa050340.28145167
81Arginine and proline metabolism_Homo sapiens_hsa003300.25944589
82Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.25566706
83Allograft rejection_Homo sapiens_hsa053300.25522886
84Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.25200029
85Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.25023514
86Graft-versus-host disease_Homo sapiens_hsa053320.24574503
87Viral carcinogenesis_Homo sapiens_hsa052030.24463404
88Legionellosis_Homo sapiens_hsa051340.22043678
89Phenylalanine metabolism_Homo sapiens_hsa003600.22010717
90Linoleic acid metabolism_Homo sapiens_hsa005910.21417960
91Primary bile acid biosynthesis_Homo sapiens_hsa001200.20855651
92Caffeine metabolism_Homo sapiens_hsa002320.20302959
93Asthma_Homo sapiens_hsa053100.19926545
94Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.19532007
95Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.19113521
96Autoimmune thyroid disease_Homo sapiens_hsa053200.18988065
97Retinol metabolism_Homo sapiens_hsa008300.18785022
98Arginine biosynthesis_Homo sapiens_hsa002200.18053661
99Fructose and mannose metabolism_Homo sapiens_hsa000510.17992959
100Tyrosine metabolism_Homo sapiens_hsa003500.17651579
101Primary immunodeficiency_Homo sapiens_hsa053400.17347147
102Phototransduction_Homo sapiens_hsa047440.16611839
103Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.15889501
104Rheumatoid arthritis_Homo sapiens_hsa053230.15540050
105Steroid hormone biosynthesis_Homo sapiens_hsa001400.15435200
106Synaptic vesicle cycle_Homo sapiens_hsa047210.14012666
107Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.11986071
108Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.11565477
109Maturity onset diabetes of the young_Homo sapiens_hsa049500.11328009
110Hematopoietic cell lineage_Homo sapiens_hsa046400.10185609
111NOD-like receptor signaling pathway_Homo sapiens_hsa046210.08638207
112HTLV-I infection_Homo sapiens_hsa051660.08161702
113Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.07522232
114Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.07281206
115Vitamin digestion and absorption_Homo sapiens_hsa049770.07134144
116Intestinal immune network for IgA production_Homo sapiens_hsa046720.05793992
117Phagosome_Homo sapiens_hsa041450.03426066
118Shigellosis_Homo sapiens_hsa051310.03097672
119Sphingolipid metabolism_Homo sapiens_hsa006000.01639682
120Type I diabetes mellitus_Homo sapiens_hsa049400.01137825
121Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.00862987
122Steroid biosynthesis_Homo sapiens_hsa00100-0.0104416
123N-Glycan biosynthesis_Homo sapiens_hsa00510-0.0090549
124Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060-0.0070148
125Galactose metabolism_Homo sapiens_hsa00052-0.0022119
126Selenocompound metabolism_Homo sapiens_hsa00450-0.0016617

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