MRPL34

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. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)6.53753925
2ribosomal small subunit assembly (GO:0000028)6.35955096
3viral transcription (GO:0019083)6.20172634
4ATP synthesis coupled proton transport (GO:0015986)6.13475635
5energy coupled proton transport, down electrochemical gradient (GO:0015985)6.13475635
6ribosomal small subunit biogenesis (GO:0042274)6.11767554
7DNA deamination (GO:0045006)6.07305053
8translational termination (GO:0006415)5.99435768
9SRP-dependent cotranslational protein targeting to membrane (GO:0006614)5.31254250
10proteasome assembly (GO:0043248)5.30771356
11cotranslational protein targeting to membrane (GO:0006613)5.26791962
12translational elongation (GO:0006414)5.25608752
13protein targeting to ER (GO:0045047)5.21341237
14maturation of SSU-rRNA (GO:0030490)5.09921811
15mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.07038396
16protein localization to endoplasmic reticulum (GO:0070972)4.97587601
17establishment of protein localization to endoplasmic reticulum (GO:0072599)4.95329834
18respiratory electron transport chain (GO:0022904)4.89099137
19electron transport chain (GO:0022900)4.76359131
20viral life cycle (GO:0019058)4.74904805
21cellular protein complex disassembly (GO:0043624)4.74203512
22translational initiation (GO:0006413)4.73148035
23ribosomal large subunit biogenesis (GO:0042273)4.67873219
24transcription elongation from RNA polymerase III promoter (GO:0006385)4.67058247
25termination of RNA polymerase III transcription (GO:0006386)4.67058247
26nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.57304981
27* translation (GO:0006412)4.43670298
28chaperone-mediated protein transport (GO:0072321)4.33992783
29oxidative phosphorylation (GO:0006119)4.25944318
30protein neddylation (GO:0045116)4.23143592
31negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.19227754
32establishment of protein localization to mitochondrial membrane (GO:0090151)4.15825003
33mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.11975542
34mitochondrial respiratory chain complex I assembly (GO:0032981)4.11975542
35NADH dehydrogenase complex assembly (GO:0010257)4.11975542
36protein complex disassembly (GO:0043241)4.11193701
37ribonucleoprotein complex biogenesis (GO:0022613)4.05640346
38GDP-mannose metabolic process (GO:0019673)4.05605179
39protein complex biogenesis (GO:0070271)4.01152905
40aerobic respiration (GO:0009060)4.00288733
41cytochrome complex assembly (GO:0017004)3.95975294
42RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.95680039
43tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.95680039
44macromolecular complex disassembly (GO:0032984)3.94951653
45L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.87992492
46positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.87274964
47negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.86795899
48negative regulation of ligase activity (GO:0051352)3.86795899
49mitochondrial respiratory chain complex assembly (GO:0033108)3.83787415
50pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.82913073
51GTP biosynthetic process (GO:0006183)3.81484534
52cellular component biogenesis (GO:0044085)3.81459551
53regulation of cellular amino acid metabolic process (GO:0006521)3.80310482
54regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.77740296
55establishment of integrated proviral latency (GO:0075713)3.77466898
56spliceosomal snRNP assembly (GO:0000387)3.76625367
57formation of translation preinitiation complex (GO:0001731)3.75245302
58protein maturation by protein folding (GO:0022417)3.72044738
59anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.71901703
60DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.71636128
61protein targeting to mitochondrion (GO:0006626)3.70486625
62ATP biosynthetic process (GO:0006754)3.70326433
637-methylguanosine mRNA capping (GO:0006370)3.68307471
64DNA strand elongation involved in DNA replication (GO:0006271)3.66881049
65regulation of mitochondrial translation (GO:0070129)3.65937344
66deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.65072688
67signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.64537833
68intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.64537833
69telomere maintenance via semi-conservative replication (GO:0032201)3.64060097
70establishment of protein localization to mitochondrion (GO:0072655)3.63974630
71RNA capping (GO:0036260)3.63134830
727-methylguanosine RNA capping (GO:0009452)3.63134830
73rRNA processing (GO:0006364)3.62602067
74signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.60839429
75signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.60839429
76signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.60839429
77mitochondrial transport (GO:0006839)3.56485581
78exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.56042418
79nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.52775489
80signal transduction involved in DNA integrity checkpoint (GO:0072401)3.51492737
81signal transduction involved in DNA damage checkpoint (GO:0072422)3.51492737
82antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.49034502
83UTP biosynthetic process (GO:0006228)3.48670731
84transcription from mitochondrial promoter (GO:0006390)3.47076102
85nuclear-transcribed mRNA catabolic process (GO:0000956)3.47002701
86respiratory chain complex IV assembly (GO:0008535)3.46909101
87DNA strand elongation (GO:0022616)3.46869193
88hydrogen ion transmembrane transport (GO:1902600)3.46846893
89rRNA metabolic process (GO:0016072)3.46625992
90signal transduction involved in cell cycle checkpoint (GO:0072395)3.46429919
91rRNA modification (GO:0000154)3.46188242
92guanosine-containing compound biosynthetic process (GO:1901070)3.45909911
93protein targeting to membrane (GO:0006612)3.42028514
94pseudouridine synthesis (GO:0001522)3.39901834
95regulation of cellular respiration (GO:0043457)3.38185493
96protein localization to mitochondrion (GO:0070585)3.36867310
97protein deneddylation (GO:0000338)3.34723528
98ribonucleoside triphosphate biosynthetic process (GO:0009201)3.34394107
99purine nucleobase biosynthetic process (GO:0009113)3.32095855
100nucleobase biosynthetic process (GO:0046112)3.31919840
101purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.31494021
102positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.29373694
103cullin deneddylation (GO:0010388)3.27352109
104peptidyl-histidine modification (GO:0018202)3.27315810
105purine nucleoside triphosphate biosynthetic process (GO:0009145)3.26984993
106pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.26906328
107mRNA catabolic process (GO:0006402)3.26762411
108metallo-sulfur cluster assembly (GO:0031163)3.25240512
109iron-sulfur cluster assembly (GO:0016226)3.25240512
110water-soluble vitamin biosynthetic process (GO:0042364)3.23702175
111antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.23579460
112spliceosomal complex assembly (GO:0000245)3.22042143
113transcription-coupled nucleotide-excision repair (GO:0006283)3.20852470
114positive regulation of ligase activity (GO:0051351)3.19368111
115deoxyribonucleotide catabolic process (GO:0009264)3.18932254
116L-methionine salvage (GO:0071267)3.18906441
117L-methionine biosynthetic process (GO:0071265)3.18906441
118amino acid salvage (GO:0043102)3.18906441
119ribosome biogenesis (GO:0042254)3.17158913
120deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.16958476
121inner mitochondrial membrane organization (GO:0007007)3.15989838
122deoxyribose phosphate catabolic process (GO:0046386)3.09430695
123nucleoside triphosphate biosynthetic process (GO:0009142)3.06519009
124pyrimidine nucleoside triphosphate metabolic process (GO:0009147)3.04553701
125base-excision repair, AP site formation (GO:0006285)3.02724964
126purine nucleoside monophosphate biosynthetic process (GO:0009127)3.02417696
127purine ribonucleoside monophosphate biosynthetic process (GO:0009168)3.02417696
128nucleoside transmembrane transport (GO:1901642)3.02171665
129proton transport (GO:0015992)3.01483567
130rRNA methylation (GO:0031167)3.00848985
131pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.98054499

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.65731607
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.38446439
3E2F7_22180533_ChIP-Seq_HELA_Human4.34309159
4SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.27913117
5GABP_17652178_ChIP-ChIP_JURKAT_Human4.20377588
6* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.09016650
7EST1_17652178_ChIP-ChIP_JURKAT_Human4.04787833
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.94138268
9* ETS1_20019798_ChIP-Seq_JURKAT_Human3.67858086
10CREB1_15753290_ChIP-ChIP_HEK293T_Human3.47979809
11* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.24605242
12* HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.23603222
13NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.22935244
14E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.02496377
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.93176843
16* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.89149613
17MYC_19079543_ChIP-ChIP_MESCs_Mouse2.88501305
18MYC_19030024_ChIP-ChIP_MESCs_Mouse2.85719430
19ELF1_17652178_ChIP-ChIP_JURKAT_Human2.71729771
20* XRN2_22483619_ChIP-Seq_HELA_Human2.58910700
21* VDR_23849224_ChIP-Seq_CD4+_Human2.50262477
22DCP1A_22483619_ChIP-Seq_HELA_Human2.43965003
23* THAP11_20581084_ChIP-Seq_MESCs_Mouse2.41044371
24* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.40555760
25E2F4_17652178_ChIP-ChIP_JURKAT_Human2.38570697
26SRF_21415370_ChIP-Seq_HL-1_Mouse2.34031692
27CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.33722318
28FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.23683170
29NELFA_20434984_ChIP-Seq_ESCs_Mouse2.21503255
30YY1_21170310_ChIP-Seq_MESCs_Mouse2.20960794
31FOXP3_21729870_ChIP-Seq_TREG_Human2.13935316
32GABP_19822575_ChIP-Seq_HepG2_Human2.07395464
33TTF2_22483619_ChIP-Seq_HELA_Human2.06799971
34PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.91726992
35ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.91104265
36ELK1_19687146_ChIP-ChIP_HELA_Human1.87449006
37* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.85914158
38FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.83053601
39SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.82005466
40TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.75564891
41TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.74096063
42MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.69349414
43HOXB4_20404135_ChIP-ChIP_EML_Mouse1.66900275
44* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.63741473
45POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.62151565
46PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.51984916
47MYCN_18555785_ChIP-Seq_MESCs_Mouse1.50102347
48NANOG_18555785_ChIP-Seq_MESCs_Mouse1.49914849
49POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.48010080
50ELK1_22589737_ChIP-Seq_MCF10A_Human1.46344646
51ERG_20887958_ChIP-Seq_HPC-7_Mouse1.45080017
52ZNF263_19887448_ChIP-Seq_K562_Human1.44967827
53ZFX_18555785_ChIP-Seq_MESCs_Mouse1.41750022
54YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.38744117
55MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.35603084
56BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.35582194
57CIITA_25753668_ChIP-Seq_RAJI_Human1.33898123
58MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.33167871
59FOXM1_23109430_ChIP-Seq_U2OS_Human1.30931458
60* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.29873178
61HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.26616267
62KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.26554273
63TET1_21451524_ChIP-Seq_MESCs_Mouse1.25044867
64MYC_18940864_ChIP-ChIP_HL60_Human1.24766086
65ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.19914323
66* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.15484543
67ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.14977061
68AR_21909140_ChIP-Seq_LNCAP_Human1.13877653
69KDM5A_27292631_Chip-Seq_BREAST_Human1.09326870
70CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.09283946
71CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.07415168
72* CTCF_18555785_ChIP-Seq_MESCs_Mouse1.06447425
73CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.06422685
74PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.05706411
75ELF1_20517297_ChIP-Seq_JURKAT_Human1.05471010
76SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.04801825
77BCL6_27268052_Chip-Seq_Bcells_Human1.03676401
78PADI4_21655091_ChIP-ChIP_MCF-7_Human1.02251056
79CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.99991534
80STAT3_1855785_ChIP-Seq_MESCs_Mouse0.98969281
81P68_20966046_ChIP-Seq_HELA_Human0.98219266
82TBX5_21415370_ChIP-Seq_HL-1_Mouse0.97542951
83E2F1_21310950_ChIP-Seq_MCF-7_Human0.96844859
84CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.96567776
85SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.96261596
86OCT4_18692474_ChIP-Seq_MEFs_Mouse0.96216542
87SRY_22984422_ChIP-ChIP_TESTIS_Rat0.95746440
88HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.94487832
89SOX2_18555785_ChIP-Seq_MESCs_Mouse0.94362012
90* ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.93589636
91CTCF_26484167_Chip-Seq_Bcells_Mouse0.92829511
92IRF1_19129219_ChIP-ChIP_H3396_Human0.91951528
93TFEB_21752829_ChIP-Seq_HELA_Human0.89525022
94DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.88948045
95SOX2_18692474_ChIP-Seq_MEFs_Mouse0.88875403
96SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.88126766
97HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.88065673
98SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.87832488
99KLF4_18555785_ChIP-Seq_MESCs_Mouse0.87380622
100* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.87088317
101TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.86089343
102E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.85488930
103E2F1_20622854_ChIP-Seq_HELA_Human0.84935811
104PHF8_20622854_ChIP-Seq_HELA_Human0.84874525
105KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.83225733
106GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.83156661
107POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.82263437
108RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.81797861
109CTCF_20526341_ChIP-Seq_ESCs_Human0.81718880
110YY1_22570637_ChIP-Seq_MALME-3M_Human0.81041632
111SPI1_23547873_ChIP-Seq_NB4_Human0.80471707
112EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.80399302
113DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.79987935
114* SOX17_20123909_ChIP-Seq_XEN_Mouse0.79653240
115FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78133034
116NOTCH1_21737748_ChIP-Seq_TLL_Human0.71351459
117* FOXP1_21924763_ChIP-Seq_HESCs_Human0.71260462
118TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.70660304

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation4.60040420
2MP0003693_abnormal_embryo_hatching4.42143902
3MP0004957_abnormal_blastocyst_morpholog3.93499116
4MP0003806_abnormal_nucleotide_metabolis3.71867909
5MP0006036_abnormal_mitochondrial_physio3.13198622
6MP0003077_abnormal_cell_cycle2.95664213
7MP0003186_abnormal_redox_activity2.79438907
8MP0003718_maternal_effect2.75347901
9MP0001529_abnormal_vocalization2.64623212
10MP0010094_abnormal_chromosome_stability2.64475861
11MP0008932_abnormal_embryonic_tissue2.63775441
12MP0006035_abnormal_mitochondrial_morpho2.60523703
13MP0003111_abnormal_nucleus_morphology2.58590716
14MP0003646_muscle_fatigue2.51915064
15MP0008058_abnormal_DNA_repair2.48935963
16MP0008057_abnormal_DNA_replication2.47830411
17MP0005670_abnormal_white_adipose2.40609232
18MP0003136_yellow_coat_color2.15456680
19MP0003315_abnormal_perineum_morphology2.07294067
20MP0001905_abnormal_dopamine_level1.97689741
21MP0003786_premature_aging1.76414836
22MP0004145_abnormal_muscle_electrophysio1.74749495
23MP0002132_abnormal_respiratory_system1.70133867
24MP0004147_increased_porphyrin_level1.70006819
25MP0005451_abnormal_body_composition1.66130007
26MP0003123_paternal_imprinting1.60725191
27MP0005360_urolithiasis1.60347667
28MP0001764_abnormal_homeostasis1.59743805
29MP0004133_heterotaxia1.54373535
30MP0008875_abnormal_xenobiotic_pharmacok1.53365430
31MP0002638_abnormal_pupillary_reflex1.51733754
32MP0008007_abnormal_cellular_replicative1.49560720
33MP0006292_abnormal_olfactory_placode1.49236791
34MP0009333_abnormal_splenocyte_physiolog1.46804209
35MP0002102_abnormal_ear_morphology1.45582477
36MP0005379_endocrine/exocrine_gland_phen1.41175385
37MP0003567_abnormal_fetal_cardiomyocyte1.40879462
38MP0000372_irregular_coat_pigmentation1.39968136
39MP0000490_abnormal_crypts_of1.39940874
40MP0001727_abnormal_embryo_implantation1.39394503
41MP0002938_white_spotting1.37003961
42MP0001730_embryonic_growth_arrest1.32498986
43MP0000358_abnormal_cell_content/1.29126366
44MP0005266_abnormal_metabolism1.23998191
45MP0005645_abnormal_hypothalamus_physiol1.21571211
46MP0009697_abnormal_copulation1.19345893
47MP0008872_abnormal_physiological_respon1.17488655
48MP0000313_abnormal_cell_death1.16865157
49MP0008995_early_reproductive_senescence1.16793122
50MP0010030_abnormal_orbit_morphology1.16590918
51MP0003656_abnormal_erythrocyte_physiolo1.16004568
52MP0002736_abnormal_nociception_after1.15800556
53MP0005408_hypopigmentation1.14616453
54MP0006276_abnormal_autonomic_nervous1.13377570
55MP0001661_extended_life_span1.13136820
56MP0003221_abnormal_cardiomyocyte_apopto1.12165106
57MP0002396_abnormal_hematopoietic_system1.09286546
58MP0000751_myopathy1.08264683
59MP0000750_abnormal_muscle_regeneration1.07347903
60MP0005075_abnormal_melanosome_morpholog1.04943508
61MP0009840_abnormal_foam_cell1.03975331
62MP0005646_abnormal_pituitary_gland1.01723497
63MP0005409_darkened_coat_color0.98870326
64MP0005410_abnormal_fertilization0.98668283
65MP0001697_abnormal_embryo_size0.96570200
66MP0000350_abnormal_cell_proliferation0.96401278
67MP0002837_dystrophic_cardiac_calcinosis0.95576503
68MP0001853_heart_inflammation0.95302747
69MP0005330_cardiomyopathy0.94640744
70MP0009785_altered_susceptibility_to0.93491923
71MP0000749_muscle_degeneration0.92711697
72MP0008789_abnormal_olfactory_epithelium0.92497041
73MP0005376_homeostasis/metabolism_phenot0.91196882
74MP0004019_abnormal_vitamin_homeostasis0.90901329
75MP0002751_abnormal_autonomic_nervous0.90201980
76MP0005084_abnormal_gallbladder_morpholo0.90010677
77MP0005365_abnormal_bile_salt0.88290292
78MP0002080_prenatal_lethality0.87782387
79MP0002160_abnormal_reproductive_system0.87314322
80MP0002019_abnormal_tumor_incidence0.86128294
81MP0002163_abnormal_gland_morphology0.85584107
82MP0006072_abnormal_retinal_apoptosis0.84970837
83MP0001919_abnormal_reproductive_system0.84805933
84MP0001968_abnormal_touch/_nociception0.84282967
85MP0004084_abnormal_cardiac_muscle0.84036994
86MP0001986_abnormal_taste_sensitivity0.82668981
87MP0005636_abnormal_mineral_homeostasis0.82418265
88MP0002139_abnormal_hepatobiliary_system0.81289991
89MP0002653_abnormal_ependyma_morphology0.80576262
90MP0002876_abnormal_thyroid_physiology0.80299405
91MP0003011_delayed_dark_adaptation0.79630227
92MP0004142_abnormal_muscle_tone0.79526642
93MP0008775_abnormal_heart_ventricle0.78311805
94MP0004215_abnormal_myocardial_fiber0.77692401
95MP0000678_abnormal_parathyroid_gland0.77546804
96MP0005584_abnormal_enzyme/coenzyme_acti0.76868023
97MP0002822_catalepsy0.76516993
98MP0005083_abnormal_biliary_tract0.76475208
99MP0002210_abnormal_sex_determination0.75500060
100MP0009643_abnormal_urine_homeostasis0.74743726
101MP0000049_abnormal_middle_ear0.73837624
102MP0001929_abnormal_gametogenesis0.72807327
103MP0005319_abnormal_enzyme/_coenzyme0.72376569
104MP0002277_abnormal_respiratory_mucosa0.71711380
105MP0004185_abnormal_adipocyte_glucose0.71094126
106MP0001672_abnormal_embryogenesis/_devel0.71072417
107MP0005380_embryogenesis_phenotype0.71072417
108MP0003763_abnormal_thymus_physiology0.70677566
109MP0000689_abnormal_spleen_morphology0.70135825
110MP0002106_abnormal_muscle_physiology0.69856556
111MP0003137_abnormal_impulse_conducting0.69737253
112MP0000653_abnormal_sex_gland0.69161233
113MP0001188_hyperpigmentation0.68891722
114MP0002722_abnormal_immune_system0.67455650
115MP0008877_abnormal_DNA_methylation0.66899514
116MP0003121_genomic_imprinting0.66786613
117MP0001145_abnormal_male_reproductive0.66585059
118MP0000343_altered_response_to0.66273564
119MP0002332_abnormal_exercise_endurance0.65608737
120MP0002095_abnormal_skin_pigmentation0.63690616
121MP0005501_abnormal_skin_physiology0.63580850
122MP0005025_abnormal_response_to0.63318471
123MP0004233_abnormal_muscle_weight0.62473228
124MP0002429_abnormal_blood_cell0.62357542
125MP0008260_abnormal_autophagy0.61922049
126MP0000747_muscle_weakness0.61450110
127MP0001485_abnormal_pinna_reflex0.61166509
128MP0003984_embryonic_growth_retardation0.60548359
129MP0005085_abnormal_gallbladder_physiolo0.60275915
130MP0002148_abnormal_hypersensitivity_rea0.60236944
131MP0002085_abnormal_embryonic_tissue0.59927165
132MP0003938_abnormal_ear_development0.59409637
133MP0002398_abnormal_bone_marrow0.58035814
134MP0005174_abnormal_tail_pigmentation0.57924585
135MP0002088_abnormal_embryonic_growth/wei0.57774657
136MP0005332_abnormal_amino_acid0.57704246
137MP0005389_reproductive_system_phenotype0.57536994

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.99637050
2Mitochondrial inheritance (HP:0001427)5.69791963
3Abnormality of cells of the erythroid lineage (HP:0012130)5.55302089
4Abnormal mitochondria in muscle tissue (HP:0008316)5.50557896
5Hepatocellular necrosis (HP:0001404)5.23389846
6Abnormal number of erythroid precursors (HP:0012131)5.13752136
7Acute encephalopathy (HP:0006846)5.08689835
8Increased CSF lactate (HP:0002490)5.01552187
9Increased hepatocellular lipid droplets (HP:0006565)5.01353244
10Hepatic necrosis (HP:0002605)4.85034426
11Progressive macrocephaly (HP:0004481)4.80265389
12Decreased activity of mitochondrial respiratory chain (HP:0008972)4.66665356
13Abnormal activity of mitochondrial respiratory chain (HP:0011922)4.66665356
14Lipid accumulation in hepatocytes (HP:0006561)4.61441682
15Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)4.56765622
16Reticulocytopenia (HP:0001896)4.52471143
17Increased intramyocellular lipid droplets (HP:0012240)4.25746845
18Renal Fanconi syndrome (HP:0001994)4.19967469
19Muscle abnormality related to mitochondrial dysfunction (HP:0003800)4.19493951
20Increased serum pyruvate (HP:0003542)4.08956659
21Abnormality of glycolysis (HP:0004366)4.08956659
223-Methylglutaconic aciduria (HP:0003535)4.00305392
23Increased serum lactate (HP:0002151)3.95260276
24Macrocytic anemia (HP:0001972)3.90091954
25Exertional dyspnea (HP:0002875)3.77424779
26Increased muscle lipid content (HP:0009058)3.74428720
27Lactic acidosis (HP:0003128)3.72135779
28Cerebral edema (HP:0002181)3.70447622
29Exercise intolerance (HP:0003546)3.57978497
30Respiratory failure (HP:0002878)3.48500460
31Pallor (HP:0000980)3.33621505
32Cerebral hypomyelination (HP:0006808)3.18731359
33Respiratory difficulties (HP:0002880)3.13529209
34Leukodystrophy (HP:0002415)3.11501730
35Aplastic anemia (HP:0001915)2.88424068
36Optic disc pallor (HP:0000543)2.87938098
37Type I transferrin isoform profile (HP:0003642)2.87607664
38Birth length less than 3rd percentile (HP:0003561)2.86781375
39Progressive muscle weakness (HP:0003323)2.81150873
40Oral leukoplakia (HP:0002745)2.79171473
41Breast hypoplasia (HP:0003187)2.71622225
42Aplasia/Hypoplasia of the sacrum (HP:0008517)2.70070589
43Generalized aminoaciduria (HP:0002909)2.66983314
44Testicular atrophy (HP:0000029)2.66746707
45Multiple enchondromatosis (HP:0005701)2.60991778
46CNS demyelination (HP:0007305)2.60845564
47Hyperglycinemia (HP:0002154)2.56323348
48Microvesicular hepatic steatosis (HP:0001414)2.47658498
49Abnormality of renal resorption (HP:0011038)2.41344801
50Lethargy (HP:0001254)2.37135381
51Glycosuria (HP:0003076)2.35312718
52Abnormality of urine glucose concentration (HP:0011016)2.35312718
53Emotional lability (HP:0000712)2.34969995
54Rough bone trabeculation (HP:0100670)2.33747168
55Abnormality of the heme biosynthetic pathway (HP:0010472)2.28486022
56Hyperphosphaturia (HP:0003109)2.28337302
57Abnormality of aromatic amino acid family metabolism (HP:0004338)2.24961895
58Amniotic constriction ring (HP:0009775)2.19449406
59Abnormality of placental membranes (HP:0011409)2.19449406
60Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.19106996
61Abnormality of serum amino acid levels (HP:0003112)2.18388407
62Carpal bone hypoplasia (HP:0001498)2.17991429
63Methylmalonic acidemia (HP:0002912)2.17307637
64Dicarboxylic aciduria (HP:0003215)2.11254510
65Abnormality of dicarboxylic acid metabolism (HP:0010995)2.11254510
66Progressive microcephaly (HP:0000253)1.98302502
67CNS hypomyelination (HP:0003429)1.97914863
68Pancytopenia (HP:0001876)1.96383273
69Parakeratosis (HP:0001036)1.96301472
70Myopathic facies (HP:0002058)1.94595111
71Poor head control (HP:0002421)1.92791438
72Rhabdomyolysis (HP:0003201)1.88808369
73Abnormal protein glycosylation (HP:0012346)1.88447765
74Abnormal glycosylation (HP:0012345)1.88447765
75Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.88447765
76Abnormal protein N-linked glycosylation (HP:0012347)1.88447765
77Patent foramen ovale (HP:0001655)1.88402726
78Vomiting (HP:0002013)1.87549970
79Opisthotonus (HP:0002179)1.87057991
80Abnormality of glycine metabolism (HP:0010895)1.84814402
81Abnormality of serine family amino acid metabolism (HP:0010894)1.84814402
82Abnormality of alanine metabolism (HP:0010916)1.84365629
83Hyperalaninemia (HP:0003348)1.84365629
84Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.84365629
85Secondary amenorrhea (HP:0000869)1.83589030
86Nausea (HP:0002018)1.82015346
87Methylmalonic aciduria (HP:0012120)1.81789421
88Nemaline bodies (HP:0003798)1.81578494
89Microretrognathia (HP:0000308)1.81016177
90Dysphonia (HP:0001618)1.80815700
91Cleft eyelid (HP:0000625)1.79761998
92Reduced antithrombin III activity (HP:0001976)1.79673102
93Gliosis (HP:0002171)1.78945470
94Ketosis (HP:0001946)1.78909160
95Abnormal urine phosphate concentration (HP:0012599)1.78707642
96Hyperglycinuria (HP:0003108)1.78666627
97Muscle fiber inclusion bodies (HP:0100299)1.78312687
98Abnormality of the anterior horn cell (HP:0006802)1.78143823
99Degeneration of anterior horn cells (HP:0002398)1.78143823
100Abnormality of magnesium homeostasis (HP:0004921)1.77845307
101Trismus (HP:0000211)1.76303609
102Patellar aplasia (HP:0006443)1.76054997
103Congenital ichthyosiform erythroderma (HP:0007431)1.74494478
104Hypoglycemic coma (HP:0001325)1.74417745
105Metabolic acidosis (HP:0001942)1.74250414
106Hyperammonemia (HP:0001987)1.74213942
107Aplasia/Hypoplasia involving the musculature (HP:0001460)1.73768128
108Ketoacidosis (HP:0001993)1.73592014
109Abnormal trabecular bone morphology (HP:0100671)1.72015996
110Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.71807027
111Aplasia/Hypoplasia of the patella (HP:0006498)1.71564613
112Absent thumb (HP:0009777)1.70474002
113Muscle fiber atrophy (HP:0100295)1.68026339
114Myoglobinuria (HP:0002913)1.67804286
115Renal tubular dysfunction (HP:0000124)1.67640982
116Gout (HP:0001997)1.67552841
117Abnormality of the preputium (HP:0100587)1.67087170
118Abnormal hemoglobin (HP:0011902)1.64842132
119Premature graying of hair (HP:0002216)1.63719488
120X-linked dominant inheritance (HP:0001423)1.63470883
121Abnormality of reticulocytes (HP:0004312)1.62219031
122Palpitations (HP:0001962)1.61597177
123Blindness (HP:0000618)1.61548316
124Progressive external ophthalmoplegia (HP:0000590)1.60433433
125Triphalangeal thumb (HP:0001199)1.60351472
126Stenosis of the external auditory canal (HP:0000402)1.60341770
127Cellular immunodeficiency (HP:0005374)1.59366274
128Aplasia/hypoplasia of the uterus (HP:0008684)1.59038809
129Ragged-red muscle fibers (HP:0003200)1.58614877
130Unsteady gait (HP:0002317)1.58490324
131Horseshoe kidney (HP:0000085)1.55410836

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK24.95095958
2NME24.58411802
3STK164.31277450
4BUB14.24556011
5WEE13.35805675
6PDK23.06409220
7EIF2AK12.97605623
8VRK12.68726058
9TLK12.40931447
10PIM22.34847405
11SRPK12.31796629
12NME12.22210726
13BCKDK2.21256745
14EIF2AK32.05104315
15TESK21.96767089
16ARAF1.86012519
17MST41.83223023
18PLK41.69398604
19KDR1.68989821
20PBK1.65516974
21DYRK21.64247520
22DYRK31.46975913
23BRAF1.46198968
24CDK191.40155645
25CDC71.30868211
26MYLK1.29196559
27MKNK11.27275498
28NEK11.26107545
29LIMK11.25052743
30BRSK21.21879867
31MUSK1.21362910
32ILK1.20314773
33DAPK11.17531910
34ACVR1B1.17221268
35MAP3K111.15923686
36CCNB11.15282178
37PLK11.11677723
38ABL21.10612422
39AURKA1.10563636
40PHKG11.09910390
41PHKG21.09910390
42STK391.08551536
43TSSK61.04786648
44CDK71.04730465
45AURKB1.01850881
46ERN11.01109909
47MAP4K20.99961329
48SCYL20.96581534
49RPS6KB20.96331455
50ZAK0.93990655
51OBSCN0.89411586
52TTK0.89153351
53PAK10.88731890
54TAOK20.88654805
55CSNK1G30.86228614
56CDK80.85546100
57MAP3K120.85374923
58TEC0.81984375
59CSNK2A10.81944928
60RPS6KA50.79813973
61IRAK40.78891569
62NEK20.76966337
63STK38L0.76487918
64EIF2AK20.75815941
65TRIM280.75669833
66CSNK2A20.72647651
67GRK10.72343302
68OXSR10.70787680
69BRSK10.67798578
70AKT20.67705375
71MKNK20.67598949
72PLK30.67115857
73STK40.66846114
74BCR0.66543975
75TESK10.65765357
76GRK70.65759359
77UHMK10.65078683
78CSNK1G20.64523330
79ATR0.62670354
80MAPKAPK50.60933655
81PIM10.59569951
82RAF10.58348143
83MAP4K10.57739835
84DAPK30.56532332
85CHEK20.56426063
86LRRK20.54828132
87TNIK0.54322096
88MAP2K20.51172928
89TGFBR10.50205064
90PINK10.49919460
91WNK40.49373096
92CSNK1G10.48699186
93MAP2K70.48696720
94BMPR1B0.47705359
95PRKG20.47112257
96MAP3K80.46513122
97PAK40.46134930
98TAF10.44641983
99CAMK2G0.44594246
100RPS6KA40.44561350
101ADRBK20.43121663
102CSNK1A1L0.42002042
103MAPKAPK30.41988724
104SMG10.41261361
105TXK0.39601615
106CDK40.38795934
107TIE10.37386060
108ROCK20.37294985
109YES10.36701466
110PRKCG0.36386493
111MAPK40.36049746
112CHEK10.34597958
113BTK0.34272366
114PRKCI0.34022958
115NUAK10.33639057
116WNK30.33080295
117GRK50.32030832
118MAP2K60.31608069
119CDK11A0.31487066
120CSNK1A10.30993807
121PIK3CA0.30628339
122PASK0.30588580
123IRAK30.29952515
124KIT0.28920110
125PRKACA0.28785828
126CDK180.28245228
127PRKCQ0.27580416
128LMTK20.26959827
129CDK140.25640279

Predicted pathways (KEGG)

RankGene SetZ-score
1* Ribosome_Homo sapiens_hsa030105.38658465
2Proteasome_Homo sapiens_hsa030504.25558075
3Oxidative phosphorylation_Homo sapiens_hsa001904.10251452
4RNA polymerase_Homo sapiens_hsa030203.88009869
5Parkinsons disease_Homo sapiens_hsa050123.79278051
6DNA replication_Homo sapiens_hsa030303.27687768
7Mismatch repair_Homo sapiens_hsa034302.78312615
8Huntingtons disease_Homo sapiens_hsa050162.74762063
9Pyrimidine metabolism_Homo sapiens_hsa002402.64344348
10Alzheimers disease_Homo sapiens_hsa050102.51098590
11Spliceosome_Homo sapiens_hsa030402.43170307
12Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.33867451
13Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.26486386
14Homologous recombination_Homo sapiens_hsa034402.14953408
15Protein export_Homo sapiens_hsa030602.12058415
16Nucleotide excision repair_Homo sapiens_hsa034201.96117047
17Base excision repair_Homo sapiens_hsa034101.85605591
18RNA transport_Homo sapiens_hsa030131.64594750
19Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.53614014
20Cardiac muscle contraction_Homo sapiens_hsa042601.53383107
21Purine metabolism_Homo sapiens_hsa002301.39964134
22Basal transcription factors_Homo sapiens_hsa030221.34612800
23Folate biosynthesis_Homo sapiens_hsa007901.33714967
24Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.33636224
25Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.29498965
26Sulfur relay system_Homo sapiens_hsa041221.29323017
27Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.28254482
28RNA degradation_Homo sapiens_hsa030181.27922827
29Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.21212569
30Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.21046418
31Fatty acid elongation_Homo sapiens_hsa000621.18728431
32Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.16115553
33One carbon pool by folate_Homo sapiens_hsa006701.14080835
34Fanconi anemia pathway_Homo sapiens_hsa034601.11614374
35Cell cycle_Homo sapiens_hsa041101.08724450
36Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.06841417
37Non-homologous end-joining_Homo sapiens_hsa034501.04157002
38Glutathione metabolism_Homo sapiens_hsa004801.03071617
39Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.98223016
40Carbon metabolism_Homo sapiens_hsa012000.96282686
41Cysteine and methionine metabolism_Homo sapiens_hsa002700.96023215
42Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.92647021
43Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.89314843
44Pentose phosphate pathway_Homo sapiens_hsa000300.87614349
45Metabolic pathways_Homo sapiens_hsa011000.85567608
46Pyruvate metabolism_Homo sapiens_hsa006200.84838017
47Drug metabolism - other enzymes_Homo sapiens_hsa009830.83798392
48Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.81016381
492-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.79543532
50Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.76016802
51Propanoate metabolism_Homo sapiens_hsa006400.75897550
52Systemic lupus erythematosus_Homo sapiens_hsa053220.75454210
53Biosynthesis of amino acids_Homo sapiens_hsa012300.71813155
54Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.71364681
55Epstein-Barr virus infection_Homo sapiens_hsa051690.69940462
56Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.67239645
57Steroid biosynthesis_Homo sapiens_hsa001000.67008290
58Arginine biosynthesis_Homo sapiens_hsa002200.61269224
59Primary bile acid biosynthesis_Homo sapiens_hsa001200.58834312
60p53 signaling pathway_Homo sapiens_hsa041150.58297041
61Vitamin B6 metabolism_Homo sapiens_hsa007500.57071922
62Cyanoamino acid metabolism_Homo sapiens_hsa004600.56785627
63Arginine and proline metabolism_Homo sapiens_hsa003300.55292091
64Arachidonic acid metabolism_Homo sapiens_hsa005900.55115770
65Tryptophan metabolism_Homo sapiens_hsa003800.50099346
66Peroxisome_Homo sapiens_hsa041460.49920452
67Tyrosine metabolism_Homo sapiens_hsa003500.48569276
68Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.48261216
69Sulfur metabolism_Homo sapiens_hsa009200.47812049
70mRNA surveillance pathway_Homo sapiens_hsa030150.47335478
71Maturity onset diabetes of the young_Homo sapiens_hsa049500.44774755
72Butanoate metabolism_Homo sapiens_hsa006500.42928226
73Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.42432398
74Selenocompound metabolism_Homo sapiens_hsa004500.40960296
75Vibrio cholerae infection_Homo sapiens_hsa051100.38320795
76Fructose and mannose metabolism_Homo sapiens_hsa000510.38193861
77SNARE interactions in vesicular transport_Homo sapiens_hsa041300.38017203
78Galactose metabolism_Homo sapiens_hsa000520.35132812
79Phenylalanine metabolism_Homo sapiens_hsa003600.34470216
80Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.33021582
81Linoleic acid metabolism_Homo sapiens_hsa005910.32442369
82Primary immunodeficiency_Homo sapiens_hsa053400.29832101
83N-Glycan biosynthesis_Homo sapiens_hsa005100.29729239
84Phototransduction_Homo sapiens_hsa047440.29226999
85Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.28832784
86Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.25103886
87Synaptic vesicle cycle_Homo sapiens_hsa047210.24980483
88Steroid hormone biosynthesis_Homo sapiens_hsa001400.24199580
89beta-Alanine metabolism_Homo sapiens_hsa004100.23539604
90Fatty acid degradation_Homo sapiens_hsa000710.22582213
91Herpes simplex infection_Homo sapiens_hsa051680.22057435
92Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.20993859
93Intestinal immune network for IgA production_Homo sapiens_hsa046720.20633750
94Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.18728070
95Nitrogen metabolism_Homo sapiens_hsa009100.18533821
96Chemical carcinogenesis_Homo sapiens_hsa052040.17543989
97Collecting duct acid secretion_Homo sapiens_hsa049660.17383843
98Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.17307376
99Ether lipid metabolism_Homo sapiens_hsa005650.17298911
100Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.17230810
101Regulation of autophagy_Homo sapiens_hsa041400.16803364
102Vitamin digestion and absorption_Homo sapiens_hsa049770.15471085
103Pentose and glucuronate interconversions_Homo sapiens_hsa000400.15328562
104Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.15320087
105Alcoholism_Homo sapiens_hsa050340.14682225
106Histidine metabolism_Homo sapiens_hsa003400.13576146
107Asthma_Homo sapiens_hsa053100.13530431
108alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.12543165
109Graft-versus-host disease_Homo sapiens_hsa053320.12336226
110Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.12000421
111Allograft rejection_Homo sapiens_hsa053300.10920175
112Legionellosis_Homo sapiens_hsa051340.10261468
113Fatty acid metabolism_Homo sapiens_hsa012120.10192682
114Oocyte meiosis_Homo sapiens_hsa041140.09244384
115Fat digestion and absorption_Homo sapiens_hsa049750.08339070
116Retinol metabolism_Homo sapiens_hsa008300.06783925

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