MRPL55

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 two different isoforms were identified through sequence analysis. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)6.65200468
2energy coupled proton transport, down electrochemical gradient (GO:0015985)6.25137703
3ATP synthesis coupled proton transport (GO:0015986)6.25137703
4mitochondrial electron transport, NADH to ubiquinone (GO:0006120)6.11182965
5proteasome assembly (GO:0043248)5.77839553
6respiratory electron transport chain (GO:0022904)5.53956688
7electron transport chain (GO:0022900)5.41982706
8DNA deamination (GO:0045006)4.85915451
9protein complex biogenesis (GO:0070271)4.75963653
10chaperone-mediated protein transport (GO:0072321)4.75529977
11ribosomal small subunit assembly (GO:0000028)4.67944723
12mitochondrial respiratory chain complex I assembly (GO:0032981)4.62988593
13NADH dehydrogenase complex assembly (GO:0010257)4.62988593
14mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.62988593
15GTP biosynthetic process (GO:0006183)4.51779770
16protein neddylation (GO:0045116)4.50746030
17negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.47455005
18regulation of mitochondrial translation (GO:0070129)4.45602095
19mitochondrial respiratory chain complex assembly (GO:0033108)4.40721226
20transcription elongation from RNA polymerase III promoter (GO:0006385)4.32877369
21termination of RNA polymerase III transcription (GO:0006386)4.32877369
22regulation of cellular amino acid metabolic process (GO:0006521)4.29536084
23cullin deneddylation (GO:0010388)4.28632385
24establishment of protein localization to mitochondrial membrane (GO:0090151)4.19025832
25protein targeting to mitochondrion (GO:0006626)4.17811461
26positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.15382176
27guanosine-containing compound biosynthetic process (GO:1901070)4.14953047
28oxidative phosphorylation (GO:0006119)4.12542386
29protein deneddylation (GO:0000338)4.11152068
30respiratory chain complex IV assembly (GO:0008535)4.08504478
31negative regulation of ligase activity (GO:0051352)4.05149257
32negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.05149257
33ribosomal small subunit biogenesis (GO:0042274)4.04564142
34establishment of protein localization to mitochondrion (GO:0072655)4.04397397
35regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.02617418
36tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)4.01293305
37RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)4.01293305
38ribosomal large subunit biogenesis (GO:0042273)4.00818238
39DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.95512230
40UTP biosynthetic process (GO:0006228)3.92866499
41L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.91785269
42anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.91469915
43signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.88281151
44intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.88281151
457-methylguanosine mRNA capping (GO:0006370)3.87998131
46signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.86518267
47signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.86518267
48signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.86518267
49antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.82561352
507-methylguanosine RNA capping (GO:0009452)3.81746429
51RNA capping (GO:0036260)3.81746429
52viral transcription (GO:0019083)3.79681743
53cytochrome complex assembly (GO:0017004)3.75360379
54translational termination (GO:0006415)3.74462207
55signal transduction involved in DNA damage checkpoint (GO:0072422)3.72268172
56signal transduction involved in DNA integrity checkpoint (GO:0072401)3.72268172
57protein localization to mitochondrion (GO:0070585)3.71435364
58maturation of SSU-rRNA (GO:0030490)3.71264881
59* translation (GO:0006412)3.69776207
60signal transduction involved in cell cycle checkpoint (GO:0072395)3.67920698
61deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.67186576
62deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.66895180
63cotranslational protein targeting to membrane (GO:0006613)3.65819016
64purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.65416441
65SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.65033946
66purine nucleoside triphosphate biosynthetic process (GO:0009145)3.61536162
67pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.59071150
68rRNA modification (GO:0000154)3.58465459
69protein targeting to ER (GO:0045047)3.57643484
70mannosylation (GO:0097502)3.55849490
71pseudouridine synthesis (GO:0001522)3.55399789
72antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.55213200
73positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.53876434
74metallo-sulfur cluster assembly (GO:0031163)3.51423175
75iron-sulfur cluster assembly (GO:0016226)3.51423175
76protein localization to endoplasmic reticulum (GO:0070972)3.46942969
77translational elongation (GO:0006414)3.42880800
78protein-cofactor linkage (GO:0018065)3.42828186
79aerobic respiration (GO:0009060)3.42177535
80ATP biosynthetic process (GO:0006754)3.40741204
81positive regulation of ligase activity (GO:0051351)3.39883916
82spliceosomal snRNP assembly (GO:0000387)3.39813105
83cellular component biogenesis (GO:0044085)3.38672586
84establishment of protein localization to endoplasmic reticulum (GO:0072599)3.38070813
85CTP biosynthetic process (GO:0006241)3.36392298
86CTP metabolic process (GO:0046036)3.36392298
87ubiquinone biosynthetic process (GO:0006744)3.35828276
88quinone biosynthetic process (GO:1901663)3.35828276
89UTP metabolic process (GO:0046051)3.35130915
90inner mitochondrial membrane organization (GO:0007007)3.31474565
91hydrogen ion transmembrane transport (GO:1902600)3.30689876
92ribonucleoside triphosphate biosynthetic process (GO:0009201)3.28783362
93base-excision repair, AP site formation (GO:0006285)3.27895888
94mitochondrial transport (GO:0006839)3.25993691
95regulation of cellular amine metabolic process (GO:0033238)3.23851772
96L-methionine biosynthetic process (GO:0071265)3.23457900
97amino acid salvage (GO:0043102)3.23457900
98L-methionine salvage (GO:0071267)3.23457900
99establishment of integrated proviral latency (GO:0075713)3.21930280
100transcription-coupled nucleotide-excision repair (GO:0006283)3.21407174
101pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.20710686
102pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.19760211
103ribonucleoprotein complex biogenesis (GO:0022613)3.18817944
104nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.17218266
105peptidyl-histidine modification (GO:0018202)3.17149791
106telomere maintenance via semi-conservative replication (GO:0032201)3.16328460
107translational initiation (GO:0006413)3.13288118
108exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.13268587
109cellular protein complex disassembly (GO:0043624)3.10203377
110DNA strand elongation involved in DNA replication (GO:0006271)3.08061340
1112-deoxyribonucleotide biosynthetic process (GO:0009265)3.04309935
112deoxyribose phosphate biosynthetic process (GO:0046385)3.04309935
113DNA damage response, detection of DNA damage (GO:0042769)3.03689840
114purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)3.02998500
115nucleoside triphosphate biosynthetic process (GO:0009142)3.01385521
116regulation of ubiquitin-protein transferase activity (GO:0051438)3.00370064
117proton transport (GO:0015992)2.99137294
118aldehyde catabolic process (GO:0046185)2.95432980
119deoxyribonucleotide catabolic process (GO:0009264)2.94961148
120pyrimidine nucleotide catabolic process (GO:0006244)2.94192592
121intracellular protein transmembrane import (GO:0044743)2.94088639
122hydrogen transport (GO:0006818)2.92471113
123pyrimidine nucleoside triphosphate metabolic process (GO:0009147)2.90276805

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.28814804
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.56137043
3* JARID1A_20064375_ChIP-Seq_MESCs_Mouse4.50472023
4EST1_17652178_ChIP-ChIP_JURKAT_Human4.41804359
5NOTCH1_17114293_ChIP-ChIP_T-ALL_Human4.36981346
6SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.92578806
7MYC_18555785_ChIP-Seq_MESCs_Mouse3.88425157
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.88154718
9CREB1_15753290_ChIP-ChIP_HEK293T_Human3.56655615
10EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.47958983
11HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.46867154
12CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.37556817
13* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.32263581
14MYC_18358816_ChIP-ChIP_MESCs_Mouse3.06664329
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.96846582
16SRF_21415370_ChIP-Seq_HL-1_Mouse2.85036362
17PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.69664471
18VDR_23849224_ChIP-Seq_CD4+_Human2.67220524
19* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.64294728
20E2F7_22180533_ChIP-Seq_HELA_Human2.64196117
21THAP11_20581084_ChIP-Seq_MESCs_Mouse2.62685897
22E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.58383171
23YY1_21170310_ChIP-Seq_MESCs_Mouse2.45733908
24DCP1A_22483619_ChIP-Seq_HELA_Human2.36959736
25MYC_19079543_ChIP-ChIP_MESCs_Mouse2.36271035
26* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.33564943
27ELF1_17652178_ChIP-ChIP_JURKAT_Human2.21196100
28FOXP3_21729870_ChIP-Seq_TREG_Human2.21106899
29* XRN2_22483619_ChIP-Seq_HELA_Human2.10956298
30GABP_19822575_ChIP-Seq_HepG2_Human2.04826561
31ZFP42_18358816_ChIP-ChIP_MESCs_Mouse2.00190839
32TTF2_22483619_ChIP-Seq_HELA_Human1.98129122
33FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.97288156
34E2F4_17652178_ChIP-ChIP_JURKAT_Human1.94995575
35NELFA_20434984_ChIP-Seq_ESCs_Mouse1.89821934
36ELK1_19687146_ChIP-ChIP_HELA_Human1.89108125
37* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.76416676
38FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.68008356
39TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.63792627
40* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.62912585
41YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.61249011
42PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.58689249
43FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.57179448
44SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.55377849
45POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.46980526
46ELK1_22589737_ChIP-Seq_MCF10A_Human1.43509397
47MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.41738528
48MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.38037917
49MYC_18940864_ChIP-ChIP_HL60_Human1.36733148
50* BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.35697173
51POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.31217577
52NANOG_18555785_ChIP-Seq_MESCs_Mouse1.29967491
53TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.27958870
54MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.26893998
55* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.26500328
56MYCN_18555785_ChIP-Seq_MESCs_Mouse1.26307224
57* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.25389792
58ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.22665441
59ZNF274_21170338_ChIP-Seq_K562_Hela1.22488742
60TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.21524227
61HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.17916446
62PADI4_21655091_ChIP-ChIP_MCF-7_Human1.12047150
63* FOXP1_21924763_ChIP-Seq_HESCs_Human1.10427577
64ZFX_18555785_ChIP-Seq_MESCs_Mouse1.07203445
65IRF1_19129219_ChIP-ChIP_H3396_Human1.06037963
66CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.04792332
67PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.01993258
68CTCF_18555785_ChIP-Seq_MESCs_Mouse1.01260893
69CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.01026799
70CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.00707709
71CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.00047116
72CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.99636794
73KDM5A_27292631_Chip-Seq_BREAST_Human0.98408836
74NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.97790734
75* SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.97506034
76CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.96480701
77SRY_22984422_ChIP-ChIP_TESTIS_Rat0.96026785
78PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.95548109
79CIITA_25753668_ChIP-Seq_RAJI_Human0.94220395
80EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.93798006
81HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.90877738
82ELF1_20517297_ChIP-Seq_JURKAT_Human0.89992961
83* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.89358079
84TET1_21451524_ChIP-Seq_MESCs_Mouse0.88638763
85SOX17_20123909_ChIP-Seq_XEN_Mouse0.88296190
86VDR_22108803_ChIP-Seq_LS180_Human0.87274231
87DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.86828621
88RBPJ_22232070_ChIP-Seq_NCS_Mouse0.86498261
89NOTCH1_21737748_ChIP-Seq_TLL_Human0.84328220
90TP53_22573176_ChIP-Seq_HFKS_Human0.84251690
91BCL6_27268052_Chip-Seq_Bcells_Human0.82194411
92KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.82019553
93AR_21909140_ChIP-Seq_LNCAP_Human0.81140961
94HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.78850383
95YY1_22570637_ChIP-Seq_MALME-3M_Human0.78633719
96SOX2_18555785_ChIP-Seq_MESCs_Mouse0.75840127
97BP1_19119308_ChIP-ChIP_Hs578T_Human0.75567855
98CTCF_26484167_Chip-Seq_Bcells_Mouse0.75304577
99CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.75214870
100* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.74965108
101FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.74617876
102TAF15_26573619_Chip-Seq_HEK293_Human0.73032285
103TBX5_21415370_ChIP-Seq_HL-1_Mouse0.72825096
104E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.71464679
105FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.70776527
106KAP1_22055183_ChIP-Seq_ESCs_Mouse0.67188821
107E2F1_21310950_ChIP-Seq_MCF-7_Human0.66506487
108CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.65157370
109RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.64122918
110SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.63674387
111DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.63212927
112STAT1_20625510_ChIP-Seq_HELA_Human0.63141913
113GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.61684558
114PCGF2_27294783_Chip-Seq_ESCs_Mouse0.60764026

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation3.71551835
2MP0001529_abnormal_vocalization3.47511329
3MP0003693_abnormal_embryo_hatching3.26954282
4MP0004957_abnormal_blastocyst_morpholog2.87590689
5MP0006036_abnormal_mitochondrial_physio2.77645115
6MP0003646_muscle_fatigue2.72111738
7MP0003806_abnormal_nucleotide_metabolis2.49602480
8MP0001905_abnormal_dopamine_level2.47220308
9MP0008877_abnormal_DNA_methylation2.46932924
10MP0006035_abnormal_mitochondrial_morpho2.40302842
11MP0003880_abnormal_central_pattern2.30493226
12MP0008932_abnormal_embryonic_tissue2.28908587
13MP0010094_abnormal_chromosome_stability2.20828847
14MP0008058_abnormal_DNA_repair2.16823304
15MP0003718_maternal_effect2.08240527
16MP0003186_abnormal_redox_activity2.04383898
17MP0008057_abnormal_DNA_replication2.01201624
18MP0000749_muscle_degeneration2.00343748
19MP0008995_early_reproductive_senescence1.87348146
20MP0001188_hyperpigmentation1.87001454
21MP0003136_yellow_coat_color1.84021545
22MP0002653_abnormal_ependyma_morphology1.83590728
23MP0002876_abnormal_thyroid_physiology1.82493680
24MP0003077_abnormal_cell_cycle1.80895839
25MP0006276_abnormal_autonomic_nervous1.79388710
26MP0004147_increased_porphyrin_level1.78830407
27MP0004215_abnormal_myocardial_fiber1.78609711
28MP0003786_premature_aging1.75510988
29MP0009697_abnormal_copulation1.73878880
30MP0002837_dystrophic_cardiac_calcinosis1.73771793
31MP0002638_abnormal_pupillary_reflex1.69591107
32MP0008260_abnormal_autophagy1.64548398
33MP0003111_abnormal_nucleus_morphology1.63743965
34MP0001764_abnormal_homeostasis1.57898218
35MP0010030_abnormal_orbit_morphology1.52075841
36MP0003315_abnormal_perineum_morphology1.49527622
37MP0008875_abnormal_xenobiotic_pharmacok1.48074109
38MP0005499_abnormal_olfactory_system1.47309020
39MP0005394_taste/olfaction_phenotype1.47309020
40MP0002132_abnormal_respiratory_system1.47015077
41MP0002736_abnormal_nociception_after1.46065064
42MP0004142_abnormal_muscle_tone1.44536612
43MP0006292_abnormal_olfactory_placode1.44338277
44MP0002234_abnormal_pharynx_morphology1.40708567
45MP0005551_abnormal_eye_electrophysiolog1.37931432
46MP0003011_delayed_dark_adaptation1.31714286
47MP0000372_irregular_coat_pigmentation1.31657153
48MP0004133_heterotaxia1.28324319
49MP0002822_catalepsy1.26451907
50MP0005084_abnormal_gallbladder_morpholo1.26210693
51MP0002095_abnormal_skin_pigmentation1.21442473
52MP0001485_abnormal_pinna_reflex1.20390499
53MP0004084_abnormal_cardiac_muscle1.20228266
54MP0005332_abnormal_amino_acid1.19934238
55MP0004036_abnormal_muscle_relaxation1.18420846
56MP0002163_abnormal_gland_morphology1.16631408
57MP0004145_abnormal_muscle_electrophysio1.15049217
58MP0001986_abnormal_taste_sensitivity1.14485434
59MP0003195_calcinosis1.12095235
60MP0005266_abnormal_metabolism1.11705638
61MP0005253_abnormal_eye_physiology1.11375621
62MP0005645_abnormal_hypothalamus_physiol1.10500154
63MP0002277_abnormal_respiratory_mucosa1.09793720
64MP0001984_abnormal_olfaction1.09118170
65MP0003123_paternal_imprinting1.08831129
66MP0005330_cardiomyopathy1.08312493
67MP0000049_abnormal_middle_ear1.06223707
68MP0000631_abnormal_neuroendocrine_gland1.05901975
69MP0003121_genomic_imprinting1.05587694
70MP0005451_abnormal_body_composition1.05506044
71MP0003787_abnormal_imprinting1.04193600
72MP0002160_abnormal_reproductive_system1.03208883
73MP0005379_endocrine/exocrine_gland_phen1.02988213
74MP0001968_abnormal_touch/_nociception1.02905184
75MP0009046_muscle_twitch1.02595483
76MP0000751_myopathy1.02586162
77MP0008007_abnormal_cellular_replicative1.00488866
78MP0003879_abnormal_hair_cell1.00363022
79MP0010386_abnormal_urinary_bladder1.00279525
80MP0002127_abnormal_cardiovascular_syste0.98747573
81MP0006072_abnormal_retinal_apoptosis0.98746982
82MP0005075_abnormal_melanosome_morpholog0.98351893
83MP0003724_increased_susceptibility_to0.98042844
84MP0004381_abnormal_hair_follicle0.97779651
85MP0002751_abnormal_autonomic_nervous0.97588451
86MP0002148_abnormal_hypersensitivity_rea0.96952403
87MP0005409_darkened_coat_color0.96329692
88MP0000015_abnormal_ear_pigmentation0.95202888
89MP0005408_hypopigmentation0.94174313
90MP0002735_abnormal_chemical_nociception0.92592578
91MP0002272_abnormal_nervous_system0.91427544
92MP0005171_absent_coat_pigmentation0.91137832
93MP0003137_abnormal_impulse_conducting0.90093229
94MP0005410_abnormal_fertilization0.89710534
95MP0003656_abnormal_erythrocyte_physiolo0.89590311
96MP0000358_abnormal_cell_content/0.88816169
97MP0001542_abnormal_bone_strength0.88107049
98MP0001919_abnormal_reproductive_system0.87942475
99MP0000750_abnormal_muscle_regeneration0.87938704
100MP0005670_abnormal_white_adipose0.87615915
101MP0000653_abnormal_sex_gland0.87062528
102MP0001293_anophthalmia0.87041553
103MP0001324_abnormal_eye_pigmentation0.86835975
104MP0002938_white_spotting0.86193031
105MP0008872_abnormal_physiological_respon0.85959375
106MP0002332_abnormal_exercise_endurance0.85848359
107MP0005646_abnormal_pituitary_gland0.85665302
108MP0009333_abnormal_splenocyte_physiolog0.85051176
109MP0002210_abnormal_sex_determination0.84646174
110MP0001145_abnormal_male_reproductive0.80140070
111MP0002102_abnormal_ear_morphology0.79885503
112MP0009745_abnormal_behavioral_response0.79589303
113MP0005389_reproductive_system_phenotype0.78834190
114MP0000639_abnormal_adrenal_gland0.78808689
115MP0008004_abnormal_stomach_pH0.78268389
116MP0000678_abnormal_parathyroid_gland0.78219664
117MP0005636_abnormal_mineral_homeostasis0.76957775
118MP0001929_abnormal_gametogenesis0.76435126
119MP0001119_abnormal_female_reproductive0.76007208
120MP0002972_abnormal_cardiac_muscle0.71730153
121MP0005376_homeostasis/metabolism_phenot0.71621523
122MP0001853_heart_inflammation0.71429040
123MP0001727_abnormal_embryo_implantation0.70490032
124MP0003878_abnormal_ear_physiology0.69868022
125MP0005377_hearing/vestibular/ear_phenot0.69868022
126MP0004782_abnormal_surfactant_physiolog0.69636663
127MP0009785_altered_susceptibility_to0.68257581
128MP0002090_abnormal_vision0.67301908
129MP0003950_abnormal_plasma_membrane0.67234574
130MP0003938_abnormal_ear_development0.66683358
131MP0000490_abnormal_crypts_of0.66075626
132MP0008789_abnormal_olfactory_epithelium0.64756495
133MP0003698_abnormal_male_reproductive0.64241861

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)6.32635758
2Abnormal mitochondria in muscle tissue (HP:0008316)5.94050619
3Mitochondrial inheritance (HP:0001427)5.81104872
4Hepatocellular necrosis (HP:0001404)5.39978379
5Increased CSF lactate (HP:0002490)5.28037937
6Acute encephalopathy (HP:0006846)5.13361475
7Progressive macrocephaly (HP:0004481)5.12333483
8Hepatic necrosis (HP:0002605)4.98875905
9Increased hepatocellular lipid droplets (HP:0006565)4.42404016
10Abnormal activity of mitochondrial respiratory chain (HP:0011922)4.39150668
11Decreased activity of mitochondrial respiratory chain (HP:0008972)4.39150668
12Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)4.20279217
133-Methylglutaconic aciduria (HP:0003535)4.13922733
14Lipid accumulation in hepatocytes (HP:0006561)4.02652087
15Increased serum lactate (HP:0002151)3.96329286
16Exercise intolerance (HP:0003546)3.82030694
17Increased serum pyruvate (HP:0003542)3.80352280
18Abnormality of glycolysis (HP:0004366)3.80352280
19Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.76921128
20Lactic acidosis (HP:0003128)3.67494067
21Increased intramyocellular lipid droplets (HP:0012240)3.67161012
22Renal Fanconi syndrome (HP:0001994)3.65494415
23Respiratory failure (HP:0002878)3.62681866
24Cerebral edema (HP:0002181)3.61255003
25Abnormality of cells of the erythroid lineage (HP:0012130)3.51556154
26Abnormal number of erythroid precursors (HP:0012131)3.43811051
27Increased muscle lipid content (HP:0009058)3.19264674
28Optic disc pallor (HP:0000543)3.13351379
29Exertional dyspnea (HP:0002875)3.13023944
30Leukodystrophy (HP:0002415)3.03349592
31Cerebral hypomyelination (HP:0006808)2.97352953
32Respiratory difficulties (HP:0002880)2.88181482
33Microvesicular hepatic steatosis (HP:0001414)2.74700544
34Type I transferrin isoform profile (HP:0003642)2.69574158
35Reticulocytopenia (HP:0001896)2.63608736
36CNS demyelination (HP:0007305)2.63501658
37Oral leukoplakia (HP:0002745)2.60104938
38Birth length less than 3rd percentile (HP:0003561)2.59533851
39Hyperglycinemia (HP:0002154)2.46071763
40Macrocytic anemia (HP:0001972)2.41939648
41Neuroendocrine neoplasm (HP:0100634)2.39227024
42Emotional lability (HP:0000712)2.37280370
43Rough bone trabeculation (HP:0100670)2.36653092
44Aplasia/Hypoplasia of the sacrum (HP:0008517)2.34318773
45Aplastic anemia (HP:0001915)2.33900595
46Glycosuria (HP:0003076)2.31786338
47Abnormality of urine glucose concentration (HP:0011016)2.31786338
48Breast hypoplasia (HP:0003187)2.30319677
49Abnormality of renal resorption (HP:0011038)2.29977928
50Pheochromocytoma (HP:0002666)2.26831816
51Lethargy (HP:0001254)2.26579313
52Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.22703373
53Methylmalonic aciduria (HP:0012120)2.17520084
54Abnormal hair whorl (HP:0010721)2.16253908
55Abnormality of alanine metabolism (HP:0010916)2.15195517
56Hyperalaninemia (HP:0003348)2.15195517
57Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.15195517
58Parakeratosis (HP:0001036)2.14813118
59Hypothermia (HP:0002045)2.13113153
60Pancreatic cysts (HP:0001737)2.12427421
61Progressive external ophthalmoplegia (HP:0000590)2.07485063
62Pancreatic fibrosis (HP:0100732)2.06011271
63Sclerocornea (HP:0000647)2.03608215
64Dicarboxylic aciduria (HP:0003215)2.02728857
65Abnormality of dicarboxylic acid metabolism (HP:0010995)2.02728857
66Aplasia/hypoplasia of the uterus (HP:0008684)1.99379506
67Progressive microcephaly (HP:0000253)1.97513000
68Pallor (HP:0000980)1.96305955
69CNS hypomyelination (HP:0003429)1.96134895
70Palpitations (HP:0001962)1.95843152
71Degeneration of anterior horn cells (HP:0002398)1.93488467
72Abnormality of the anterior horn cell (HP:0006802)1.93488467
73True hermaphroditism (HP:0010459)1.92532085
74Secondary amenorrhea (HP:0000869)1.92178503
75Cerebral palsy (HP:0100021)1.91528265
76Abnormal protein glycosylation (HP:0012346)1.91219609
77Abnormal glycosylation (HP:0012345)1.91219609
78Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.91219609
79Abnormal protein N-linked glycosylation (HP:0012347)1.91219609
80Hyperphosphaturia (HP:0003109)1.89778316
81Generalized aminoaciduria (HP:0002909)1.88704382
82Delayed CNS myelination (HP:0002188)1.87893776
83Gliosis (HP:0002171)1.87628883
84Medial flaring of the eyebrow (HP:0010747)1.87449759
85Abnormality of aromatic amino acid family metabolism (HP:0004338)1.85736673
86Abnormality of methionine metabolism (HP:0010901)1.85390447
87Methylmalonic acidemia (HP:0002912)1.84027284
88Molar tooth sign on MRI (HP:0002419)1.83689101
89Abnormality of midbrain morphology (HP:0002418)1.83689101
90Colon cancer (HP:0003003)1.83416923
91Microretrognathia (HP:0000308)1.82699647
92Sparse eyelashes (HP:0000653)1.82350825
93Abnormality of serum amino acid levels (HP:0003112)1.78343373
94Abnormal trabecular bone morphology (HP:0100671)1.78285379
95Abnormality of the heme biosynthetic pathway (HP:0010472)1.77645224
96Nausea (HP:0002018)1.76518707
97Poor suck (HP:0002033)1.74875706
98X-linked dominant inheritance (HP:0001423)1.73664921
99Cleft eyelid (HP:0000625)1.73582577
100Abnormality of glycine metabolism (HP:0010895)1.73383055
101Abnormality of serine family amino acid metabolism (HP:0010894)1.73383055
102Testicular atrophy (HP:0000029)1.72793450
103Hyperglycinuria (HP:0003108)1.72543587
104Hypoplasia of the uterus (HP:0000013)1.72427546
105Premature graying of hair (HP:0002216)1.72399818
106Renal tubular dysfunction (HP:0000124)1.71885257
107Vomiting (HP:0002013)1.71761170
108Pancytopenia (HP:0001876)1.71007907
109Opisthotonus (HP:0002179)1.70658379
110Abnormal pupillary function (HP:0007686)1.70078636
111Decreased electroretinogram (ERG) amplitude (HP:0000654)1.69866439
112Ketosis (HP:0001946)1.69290589
113Gait imbalance (HP:0002141)1.68596403
114Unsteady gait (HP:0002317)1.67286279
115Ragged-red muscle fibers (HP:0003200)1.66266494
116Type 2 muscle fiber atrophy (HP:0003554)1.65581463
117Reduced antithrombin III activity (HP:0001976)1.65564429
118Congenital ichthyosiform erythroderma (HP:0007431)1.64674512
119Abnormality of aspartate family amino acid metabolism (HP:0010899)1.64060099
120Prolonged neonatal jaundice (HP:0006579)1.63635207
121Type II lissencephaly (HP:0007260)1.62141363
122Blindness (HP:0000618)1.61911511
123Amniotic constriction ring (HP:0009775)1.61477587
124Abnormality of placental membranes (HP:0011409)1.61477587
125Nephrogenic diabetes insipidus (HP:0009806)1.61214048
126Congenital primary aphakia (HP:0007707)1.60706808
127Retinal dysplasia (HP:0007973)1.60623274
128Abnormal respiratory epithelium morphology (HP:0012253)1.58604125
129Abnormal respiratory motile cilium morphology (HP:0005938)1.58604125

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK25.30354202
2BUB13.81703669
3STK163.68055536
4NME13.12217032
5NME22.85607181
6EIF2AK12.75729552
7WEE12.61180562
8TSSK62.57528849
9CASK2.49534433
10TLK12.44656543
11VRK12.24615728
12EIF2AK32.03169807
13MYLK1.93095562
14SRPK11.79678625
15BRAF1.79424502
16OBSCN1.73040660
17MST41.69199666
18MAP3K121.68995727
19MAP4K21.68505820
20ARAF1.68306218
21BRSK21.56243922
22TRIM281.52260208
23PBK1.50935992
24CSNK1G11.48791572
25PIM21.44554307
26CSNK1A1L1.43324975
27PLK41.40665847
28TAF11.40065562
29CSNK1G21.38896537
30AKT31.36523780
31BCKDK1.35000209
32MKNK21.34952401
33CCNB11.28119168
34BCR1.26549494
35CDK191.26358071
36ZAK1.26203119
37TNIK1.24862274
38MKNK11.24396850
39LIMK11.22312422
40TESK21.18422606
41WNK31.16132712
42IRAK31.15814187
43BMPR1B1.13803531
44ADRBK21.13739589
45GRK71.13379981
46PDK41.06315821
47PDK31.06315821
48INSRR1.06012615
49STK38L1.02989586
50STK391.02461869
51MAP2K71.02343441
52AURKA1.01880388
53OXSR11.01353261
54GRK10.99609735
55NEK10.95118138
56BRSK10.91387726
57TESK10.89183230
58KDR0.88395264
59PLK30.86727172
60MUSK0.86613932
61PLK10.85109961
62PDK20.83906052
63IRAK40.82068340
64CDK80.80799208
65ACVR1B0.80297012
66EIF2AK20.78582805
67CDC70.78377373
68MAPKAPK50.77901853
69AURKB0.69585023
70DYRK20.68654795
71CSNK2A10.67574978
72STK240.67159182
73ABL20.64238965
74EPHA20.63336662
75PASK0.62260036
76CAMK2B0.61564194
77BMPR20.60611265
78CSNK2A20.59850363
79DAPK10.58571067
80DYRK30.58542930
81YES10.58516467
82TAOK30.56942869
83TTK0.56370559
84BLK0.56120578
85CAMK2D0.55489876
86CAMK2G0.55031203
87MAPK130.54099929
88MAP3K110.54061259
89DAPK30.53745643
90LRRK20.52940039
91PINK10.52042640
92TEC0.52040513
93TXK0.50517179
94GRK50.49981891
95PRPF4B0.49893004
96ADRBK10.48270588
97ILK0.48199661
98MAPKAPK30.48023242
99PRKCG0.47393885
100MAP3K30.46938797
101PNCK0.45726483
102CSNK1G30.44065141
103NUAK10.43865352
104PAK10.43509029
105PHKG20.41256766
106PHKG10.41256766
107PLK20.41230774
108EPHA40.41223115
109PRKCI0.41070984
110CSNK1A10.40773855
111IRAK10.40719886
112IKBKB0.40516316
113MAP2K60.40362515
114MAP3K40.40291540
115FLT30.39507506
116RPS6KA50.39275207
117ATR0.37937583
118CHEK20.37569038
119CDK70.36937574
120NEK90.36545750
121CDK30.36473357
122CAMKK20.36232105
123CAMK2A0.35595249
124NEK60.34905981
125STK40.33029144
126MINK10.32801428
127MAP3K90.32504323
128CHEK10.31738199
129PRKD30.30428266
130ATM0.30356125
131RPS6KA40.28374844
132PRKACA0.27125540

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001904.87607446
2Proteasome_Homo sapiens_hsa030504.70593220
3Parkinsons disease_Homo sapiens_hsa050124.26548393
4Ribosome_Homo sapiens_hsa030104.10693012
5RNA polymerase_Homo sapiens_hsa030203.37573517
6Huntingtons disease_Homo sapiens_hsa050163.18683119
7Alzheimers disease_Homo sapiens_hsa050102.90942129
8DNA replication_Homo sapiens_hsa030302.78267907
9Protein export_Homo sapiens_hsa030602.70994552
10Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.52378387
11Pyrimidine metabolism_Homo sapiens_hsa002402.24760544
12Mismatch repair_Homo sapiens_hsa034302.21241189
13Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.21142415
14Homologous recombination_Homo sapiens_hsa034402.07334800
15Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.92892931
16Spliceosome_Homo sapiens_hsa030401.82996552
17Nucleotide excision repair_Homo sapiens_hsa034201.81645631
18Cardiac muscle contraction_Homo sapiens_hsa042601.81453113
19Basal transcription factors_Homo sapiens_hsa030221.65483205
20Base excision repair_Homo sapiens_hsa034101.51843720
21Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.51444893
22RNA transport_Homo sapiens_hsa030131.43018459
23Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.41489224
24Purine metabolism_Homo sapiens_hsa002301.40649639
25Collecting duct acid secretion_Homo sapiens_hsa049661.34812378
26Non-homologous end-joining_Homo sapiens_hsa034501.33196858
27Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.31208270
28Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.29955400
29Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.26092370
30RNA degradation_Homo sapiens_hsa030181.18131797
31Fanconi anemia pathway_Homo sapiens_hsa034601.09432456
32Fatty acid elongation_Homo sapiens_hsa000621.02660275
33Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.01283130
34Butanoate metabolism_Homo sapiens_hsa006500.98464711
35Pyruvate metabolism_Homo sapiens_hsa006200.97850152
36Folate biosynthesis_Homo sapiens_hsa007900.97021403
37Carbon metabolism_Homo sapiens_hsa012000.91049427
38Glutathione metabolism_Homo sapiens_hsa004800.89227504
39Metabolic pathways_Homo sapiens_hsa011000.89110367
40Vibrio cholerae infection_Homo sapiens_hsa051100.88396402
41Vitamin B6 metabolism_Homo sapiens_hsa007500.88160254
42SNARE interactions in vesicular transport_Homo sapiens_hsa041300.86662693
43Arachidonic acid metabolism_Homo sapiens_hsa005900.84949432
44Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.84727087
45Cysteine and methionine metabolism_Homo sapiens_hsa002700.84127475
46Cell cycle_Homo sapiens_hsa041100.83070279
47Sulfur relay system_Homo sapiens_hsa041220.80280918
48One carbon pool by folate_Homo sapiens_hsa006700.77555180
49Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.74911538
50Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.67794840
51Linoleic acid metabolism_Homo sapiens_hsa005910.67691839
52Phenylalanine metabolism_Homo sapiens_hsa003600.66790797
53Sulfur metabolism_Homo sapiens_hsa009200.66575555
54Fructose and mannose metabolism_Homo sapiens_hsa000510.65453152
55Pentose phosphate pathway_Homo sapiens_hsa000300.65090205
56Maturity onset diabetes of the young_Homo sapiens_hsa049500.64579305
57Chemical carcinogenesis_Homo sapiens_hsa052040.64315109
58Propanoate metabolism_Homo sapiens_hsa006400.63978128
59Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.63651336
602-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.63251145
61Primary bile acid biosynthesis_Homo sapiens_hsa001200.61177759
62Primary immunodeficiency_Homo sapiens_hsa053400.60601688
63Regulation of autophagy_Homo sapiens_hsa041400.59573170
64Selenocompound metabolism_Homo sapiens_hsa004500.59270994
65Epstein-Barr virus infection_Homo sapiens_hsa051690.59027698
66Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.58339653
67Tyrosine metabolism_Homo sapiens_hsa003500.56448009
68Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.54804042
69Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.54688582
70Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.54688427
71Rheumatoid arthritis_Homo sapiens_hsa053230.54298172
72Biosynthesis of amino acids_Homo sapiens_hsa012300.49012944
73Tryptophan metabolism_Homo sapiens_hsa003800.47744501
74Drug metabolism - other enzymes_Homo sapiens_hsa009830.44741001
75Pentose and glucuronate interconversions_Homo sapiens_hsa000400.44405188
76Cyanoamino acid metabolism_Homo sapiens_hsa004600.43296874
77Galactose metabolism_Homo sapiens_hsa000520.42428784
78Ether lipid metabolism_Homo sapiens_hsa005650.41249742
79alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.40811933
80Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.40312567
81Fatty acid metabolism_Homo sapiens_hsa012120.39271340
82Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.39232415
83Synaptic vesicle cycle_Homo sapiens_hsa047210.38246865
84Fat digestion and absorption_Homo sapiens_hsa049750.36538889
85Arginine and proline metabolism_Homo sapiens_hsa003300.36210394
86Fatty acid degradation_Homo sapiens_hsa000710.35472839
87Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.33990235
88Sphingolipid metabolism_Homo sapiens_hsa006000.32976033
89Allograft rejection_Homo sapiens_hsa053300.32609686
90Peroxisome_Homo sapiens_hsa041460.31933429
91Caffeine metabolism_Homo sapiens_hsa002320.30862639
92Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.30853433
93Nitrogen metabolism_Homo sapiens_hsa009100.30471282
94Steroid biosynthesis_Homo sapiens_hsa001000.30303912
95Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.29889284
96Steroid hormone biosynthesis_Homo sapiens_hsa001400.28696986
97Retinol metabolism_Homo sapiens_hsa008300.27530844
98Graft-versus-host disease_Homo sapiens_hsa053320.25148410
99p53 signaling pathway_Homo sapiens_hsa041150.25048666
100Autoimmune thyroid disease_Homo sapiens_hsa053200.24828626
101Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.24043093
102mRNA surveillance pathway_Homo sapiens_hsa030150.24023065
103Phagosome_Homo sapiens_hsa041450.23366741
104Asthma_Homo sapiens_hsa053100.22489879
105Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.21408815
106Other glycan degradation_Homo sapiens_hsa005110.20792633
107Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.19845471
108Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.19709363
109Legionellosis_Homo sapiens_hsa051340.18834053
110Phototransduction_Homo sapiens_hsa047440.18048289
111Intestinal immune network for IgA production_Homo sapiens_hsa046720.17687597
112N-Glycan biosynthesis_Homo sapiens_hsa005100.17436609
113Oocyte meiosis_Homo sapiens_hsa041140.17426337
114beta-Alanine metabolism_Homo sapiens_hsa004100.16280755
115Systemic lupus erythematosus_Homo sapiens_hsa053220.16267419
116Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.15750145
117Nicotine addiction_Homo sapiens_hsa050330.15202693
118Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.14384373
119Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.14187171

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