MRPL18

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: This nuclear gene encodes a protein component of the larger 39S subunit of mitochondrial ribosome. This protein may also aid in the import of nuclear-encoded 5S rRNA into mitochondria. Alternative splicing results in multiple transcript variants, most of which are not predicted to encode a protein. A pseudogene of this gene is found on chromosome 16. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.51660102
2ribosomal small subunit assembly (GO:0000028)5.16423996
3ATP synthesis coupled proton transport (GO:0015986)5.12921999
4energy coupled proton transport, down electrochemical gradient (GO:0015985)5.12921999
5proteasome assembly (GO:0043248)4.89528458
6DNA deamination (GO:0045006)4.79945945
7telomere maintenance via semi-conservative replication (GO:0032201)4.62110046
8DNA strand elongation involved in DNA replication (GO:0006271)4.61681325
9DNA strand elongation (GO:0022616)4.42919234
10ribosomal small subunit biogenesis (GO:0042274)4.33376806
11CENP-A containing nucleosome assembly (GO:0034080)4.24410786
12maturation of SSU-rRNA (GO:0030490)4.24226347
13viral transcription (GO:0019083)4.19580918
14telomere maintenance via recombination (GO:0000722)4.19327996
15negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.16924519
16DNA replication checkpoint (GO:0000076)4.16009308
17translational termination (GO:0006415)4.13419135
18chromatin remodeling at centromere (GO:0031055)4.08238009
19DNA replication initiation (GO:0006270)4.06022262
20ribosomal large subunit biogenesis (GO:0042273)3.98123859
21mitochondrial respiratory chain complex assembly (GO:0033108)3.95036375
22positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.89064677
23regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.88959797
24formation of translation preinitiation complex (GO:0001731)3.88068767
25anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.87867746
26purine nucleobase biosynthetic process (GO:0009113)3.85967654
27cullin deneddylation (GO:0010388)3.85649734
28mitotic recombination (GO:0006312)3.85525570
29deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.83632071
30oxidative phosphorylation (GO:0006119)3.82958878
31mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.82708972
32nucleobase biosynthetic process (GO:0046112)3.81489276
33protein deneddylation (GO:0000338)3.80060134
34respiratory electron transport chain (GO:0022904)3.79699188
35negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.79684224
36negative regulation of ligase activity (GO:0051352)3.79684224
37protein targeting to mitochondrion (GO:0006626)3.79353120
38translational elongation (GO:0006414)3.77308764
39transcription elongation from RNA polymerase III promoter (GO:0006385)3.76123222
40termination of RNA polymerase III transcription (GO:0006386)3.76123222
41regulation of cellular amino acid metabolic process (GO:0006521)3.74933814
42DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.74190248
43establishment of protein localization to mitochondrial membrane (GO:0090151)3.73044565
44nucleotide-excision repair, DNA gap filling (GO:0006297)3.71496926
45ribonucleoprotein complex biogenesis (GO:0022613)3.69748219
46electron transport chain (GO:0022900)3.69388273
47rRNA modification (GO:0000154)3.68726725
48intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.68605331
49signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.68605331
50SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.68435563
51signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.66387416
52signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.66387416
53signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.66387416
54cotranslational protein targeting to membrane (GO:0006613)3.66016613
557-methylguanosine mRNA capping (GO:0006370)3.65198092
56telomere maintenance via telomere lengthening (GO:0010833)3.63072190
57respiratory chain complex IV assembly (GO:0008535)3.62054379
58RNA capping (GO:0036260)3.60980916
597-methylguanosine RNA capping (GO:0009452)3.60980916
60protein targeting to ER (GO:0045047)3.60008465
61transcription-coupled nucleotide-excision repair (GO:0006283)3.58990221
62signal transduction involved in DNA damage checkpoint (GO:0072422)3.58815667
63signal transduction involved in DNA integrity checkpoint (GO:0072401)3.58815667
64translational initiation (GO:0006413)3.58439725
65spliceosomal snRNP assembly (GO:0000387)3.58208241
66establishment of protein localization to mitochondrion (GO:0072655)3.57202448
67protein localization to mitochondrion (GO:0070585)3.57141489
68* translation (GO:0006412)3.56736514
69establishment of integrated proviral latency (GO:0075713)3.55445835
70signal transduction involved in cell cycle checkpoint (GO:0072395)3.54408126
71DNA replication-independent nucleosome assembly (GO:0006336)3.49895174
72DNA replication-independent nucleosome organization (GO:0034724)3.49895174
73L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.48641906
74viral mRNA export from host cell nucleus (GO:0046784)3.47382826
75mitotic metaphase plate congression (GO:0007080)3.46687157
76regulation of mitochondrial translation (GO:0070129)3.46389583
77rRNA processing (GO:0006364)3.46213882
78mitochondrial respiratory chain complex I assembly (GO:0032981)3.45837706
79NADH dehydrogenase complex assembly (GO:0010257)3.45837706
80mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.45837706
81kinetochore organization (GO:0051383)3.44933307
82protein localization to endoplasmic reticulum (GO:0070972)3.44701844
83antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.43182658
84establishment of protein localization to endoplasmic reticulum (GO:0072599)3.39788130
85kinetochore assembly (GO:0051382)3.39471528
86deoxyribonucleotide biosynthetic process (GO:0009263)3.39298873
87chaperone-mediated protein transport (GO:0072321)3.38430392
88ribosome biogenesis (GO:0042254)3.37603602
89ribosome assembly (GO:0042255)3.36927229
90cellular component biogenesis (GO:0044085)3.36591633
91rRNA methylation (GO:0031167)3.35263596
92positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.35189157
93DNA damage response, detection of DNA damage (GO:0042769)3.34003635
94pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.33640784
95exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.33368579
96nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.31966943
97rRNA metabolic process (GO:0016072)3.31809317
98pseudouridine synthesis (GO:0001522)3.31636767
99cytochrome complex assembly (GO:0017004)3.31378964
100GTP biosynthetic process (GO:0006183)3.31366090
101inner mitochondrial membrane organization (GO:0007007)3.30455188
102histone exchange (GO:0043486)3.30311321
103cellular protein complex disassembly (GO:0043624)3.29764035
104maturation of 5.8S rRNA (GO:0000460)3.27718029
105protein neddylation (GO:0045116)3.26072245
106nucleobase-containing small molecule interconversion (GO:0015949)3.25454907
107G1/S transition of mitotic cell cycle (GO:0000082)3.25377043
108cell cycle G1/S phase transition (GO:0044843)3.25377043
109positive regulation of ligase activity (GO:0051351)3.24697723
110protein complex biogenesis (GO:0070271)3.24029799
111viral life cycle (GO:0019058)3.23142099
112nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.22800131
113regulation of ubiquitin-protein transferase activity (GO:0051438)3.20483107
114pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.13406679
115regulation of ligase activity (GO:0051340)3.10138221
116metaphase plate congression (GO:0051310)3.05932656
117RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.03725669
118tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.03725669

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.67650167
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.66482533
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.35027443
4EST1_17652178_ChIP-ChIP_JURKAT_Human4.01842938
5GABP_17652178_ChIP-ChIP_JURKAT_Human3.98175859
6EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.82861117
7* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.73262951
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.47396813
9* CREB1_15753290_ChIP-ChIP_HEK293T_Human3.36199220
10E2F4_17652178_ChIP-ChIP_JURKAT_Human3.32364153
11NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.17952601
12HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.13189218
13* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.12248266
14SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.02479332
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.96858844
16* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.92090299
17E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.85752252
18MYC_19079543_ChIP-ChIP_MESCs_Mouse2.83934914
19FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.75982762
20* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.68639153
21CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.64241074
22VDR_23849224_ChIP-Seq_CD4+_Human2.63230328
23DCP1A_22483619_ChIP-Seq_HELA_Human2.40132165
24FOXM1_23109430_ChIP-Seq_U2OS_Human2.39154459
25* ELF1_17652178_ChIP-ChIP_JURKAT_Human2.38310022
26XRN2_22483619_ChIP-Seq_HELA_Human2.35260288
27E2F1_18555785_ChIP-Seq_MESCs_Mouse2.32163006
28* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.30136057
29FOXP3_21729870_ChIP-Seq_TREG_Human2.27772368
30SRF_21415370_ChIP-Seq_HL-1_Mouse2.27696835
31THAP11_20581084_ChIP-Seq_MESCs_Mouse2.25457094
32YY1_21170310_ChIP-Seq_MESCs_Mouse2.10798382
33* ELK1_19687146_ChIP-ChIP_HELA_Human2.00245007
34* GABP_19822575_ChIP-Seq_HepG2_Human1.98814496
35TTF2_22483619_ChIP-Seq_HELA_Human1.95719360
36PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.94467581
37FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.90411338
38PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.89758849
39* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.87446770
40ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.83237134
41MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.79295267
42* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.78256392
43* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.78089621
44MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.75894818
45* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.73570148
46POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.70491405
47* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.67696709
48NANOG_18555785_ChIP-Seq_MESCs_Mouse1.63749896
49* AR_21909140_ChIP-Seq_LNCAP_Human1.62520618
50E2F1_21310950_ChIP-Seq_MCF-7_Human1.54643563
51FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.51708407
52FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.50066151
53TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.46689576
54HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.44618474
55POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.39658510
56ERG_20887958_ChIP-Seq_HPC-7_Mouse1.36010205
57ZFX_18555785_ChIP-Seq_MESCs_Mouse1.34669513
58CIITA_25753668_ChIP-Seq_RAJI_Human1.31957739
59PADI4_21655091_ChIP-ChIP_MCF-7_Human1.29246061
60MYC_18940864_ChIP-ChIP_HL60_Human1.26501955
61BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.25556615
62CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.25503895
63ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.22386781
64ELK1_22589737_ChIP-Seq_MCF10A_Human1.19023994
65* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.18565038
66KDM5A_27292631_Chip-Seq_BREAST_Human1.18288678
67SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.12959459
68CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.08927416
69SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.04898501
70E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.01653956
71RBPJ_22232070_ChIP-Seq_NCS_Mouse1.01098070
72KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.00095394
73IRF1_19129219_ChIP-ChIP_H3396_Human0.99959744
74STAT3_1855785_ChIP-Seq_MESCs_Mouse0.98827094
75SOX2_18555785_ChIP-Seq_MESCs_Mouse0.96702788
76CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.95781911
77KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.93949836
78POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.93212575
79VDR_22108803_ChIP-Seq_LS180_Human0.90534376
80NOTCH1_21737748_ChIP-Seq_TLL_Human0.89387078
81SOX17_20123909_ChIP-Seq_XEN_Mouse0.86145028
82EWS_26573619_Chip-Seq_HEK293_Human0.86007614
83HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.84963347
84CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.84599596
85ZNF274_21170338_ChIP-Seq_K562_Hela0.83159999
86GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.82793764
87SPI1_23547873_ChIP-Seq_NB4_Human0.81402519
88ZNF263_19887448_ChIP-Seq_K562_Human0.80848738
89CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.80085115
90NANOG_16153702_ChIP-ChIP_HESCs_Human0.79795646
91TFEB_21752829_ChIP-Seq_HELA_Human0.79423387
92SOX2_16153702_ChIP-ChIP_HESCs_Human0.76343749
93* KLF4_18555785_ChIP-Seq_MESCs_Mouse0.76115549
94ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.74929426
95SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.74706556
96FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.72981135
97* HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.72966065
98ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.72129249
99TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.71183967
100DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.69828568
101CTCF_18555785_ChIP-Seq_MESCs_Mouse0.69718417
102OCT4_18692474_ChIP-Seq_MEFs_Mouse0.68872993
103SOX2_18692474_ChIP-Seq_MEFs_Mouse0.68728149
104TP53_22573176_ChIP-Seq_HFKS_Human0.68688669
105TBX5_21415370_ChIP-Seq_HL-1_Mouse0.66086294
106POU5F1_16153702_ChIP-ChIP_HESCs_Human0.66022772
107DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.65240013
108CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.65034595
109NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.64963559
110PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.64465003
111IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.64194566

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.69975271
2MP0004957_abnormal_blastocyst_morpholog4.46339718
3MP0010094_abnormal_chromosome_stability4.43348273
4MP0003111_abnormal_nucleus_morphology3.84130896
5MP0008057_abnormal_DNA_replication3.83604435
6MP0003077_abnormal_cell_cycle3.69731036
7MP0008058_abnormal_DNA_repair3.58398243
8MP0003806_abnormal_nucleotide_metabolis3.22188829
9MP0008932_abnormal_embryonic_tissue2.78080271
10MP0006036_abnormal_mitochondrial_physio2.66019567
11MP0003718_maternal_effect2.61232868
12MP0003646_muscle_fatigue2.43228771
13MP0008007_abnormal_cellular_replicative2.41808890
14MP0008877_abnormal_DNA_methylation2.40223317
15MP0009379_abnormal_foot_pigmentation2.39289864
16MP0003186_abnormal_redox_activity2.32663960
17MP0001529_abnormal_vocalization2.22275152
18MP0006035_abnormal_mitochondrial_morpho2.10458789
19MP0003786_premature_aging2.04567890
20MP0004147_increased_porphyrin_level2.03135122
21MP0005084_abnormal_gallbladder_morpholo1.84096082
22MP0002396_abnormal_hematopoietic_system1.77599719
23MP0001730_embryonic_growth_arrest1.77153896
24MP0006072_abnormal_retinal_apoptosis1.74180164
25MP0003123_paternal_imprinting1.74111385
26MP0000350_abnormal_cell_proliferation1.53910364
27MP0008875_abnormal_xenobiotic_pharmacok1.49591343
28MP0009697_abnormal_copulation1.47788215
29MP0002132_abnormal_respiratory_system1.45364670
30MP0002837_dystrophic_cardiac_calcinosis1.43846031
31MP0003567_abnormal_fetal_cardiomyocyte1.41540667
32MP0002736_abnormal_nociception_after1.38380990
33MP0009333_abnormal_splenocyte_physiolog1.38102489
34MP0008995_early_reproductive_senescence1.37634699
35MP0000749_muscle_degeneration1.35988593
36MP0003221_abnormal_cardiomyocyte_apopto1.32931573
37MP0002277_abnormal_respiratory_mucosa1.32384615
38MP0004084_abnormal_cardiac_muscle1.32014155
39MP0003315_abnormal_perineum_morphology1.31599238
40MP0003136_yellow_coat_color1.30381299
41MP0006292_abnormal_olfactory_placode1.28716968
42MP0000490_abnormal_crypts_of1.28151739
43MP0004215_abnormal_myocardial_fiber1.26029868
44MP0000313_abnormal_cell_death1.23461558
45MP0001697_abnormal_embryo_size1.22395676
46MP0001293_anophthalmia1.19572732
47MP0005410_abnormal_fertilization1.19211869
48MP0003941_abnormal_skin_development1.17781706
49MP0005266_abnormal_metabolism1.17716142
50MP0002019_abnormal_tumor_incidence1.17283141
51MP0001764_abnormal_homeostasis1.16204843
52MP0005646_abnormal_pituitary_gland1.14001534
53MP0001853_heart_inflammation1.13299160
54MP0008789_abnormal_olfactory_epithelium1.12031845
55MP0003656_abnormal_erythrocyte_physiolo1.10656844
56MP0002080_prenatal_lethality1.10519204
57MP0001905_abnormal_dopamine_level1.08730973
58MP0001661_extended_life_span1.06941025
59MP0005380_embryogenesis_phenotype1.06628590
60MP0001672_abnormal_embryogenesis/_devel1.06628590
61MP0003763_abnormal_thymus_physiology1.05318129
62MP0000358_abnormal_cell_content/1.04976233
63MP0005395_other_phenotype1.04345214
64MP0002638_abnormal_pupillary_reflex1.02631622
65MP0002234_abnormal_pharynx_morphology1.02254430
66MP0005330_cardiomyopathy1.01676195
67MP0005636_abnormal_mineral_homeostasis1.01610287
68MP0002210_abnormal_sex_determination1.01580388
69MP0008872_abnormal_physiological_respon1.01365797
70MP0001727_abnormal_embryo_implantation1.01329524
71MP0003950_abnormal_plasma_membrane0.99599740
72MP0002160_abnormal_reproductive_system0.98546222
73MP0005451_abnormal_body_composition0.97264341
74MP0005379_endocrine/exocrine_gland_phen0.95699172
75MP0003984_embryonic_growth_retardation0.94054154
76MP0005332_abnormal_amino_acid0.92151797
77MP0001919_abnormal_reproductive_system0.90619575
78MP0002088_abnormal_embryonic_growth/wei0.90472246
79MP0001145_abnormal_male_reproductive0.89864709
80MP0005075_abnormal_melanosome_morpholog0.88717790
81MP0000566_synostosis0.88603097
82MP0004036_abnormal_muscle_relaxation0.87980840
83MP0005645_abnormal_hypothalamus_physiol0.87841255
84MP0005253_abnormal_eye_physiology0.87423660
85MP0003698_abnormal_male_reproductive0.86886250
86MP0000689_abnormal_spleen_morphology0.86833409
87MP0002722_abnormal_immune_system0.86087140
88MP0002398_abnormal_bone_marrow0.84800542
89MP0003121_genomic_imprinting0.84744085
90MP0001835_abnormal_antigen_presentation0.83353096
91MP0001929_abnormal_gametogenesis0.82864594
92MP0005551_abnormal_eye_electrophysiolog0.82509134
93MP0002102_abnormal_ear_morphology0.81918477
94MP0005389_reproductive_system_phenotype0.80013758
95MP0000653_abnormal_sex_gland0.78328691
96MP0003011_delayed_dark_adaptation0.78117918
97MP0001119_abnormal_female_reproductive0.77465738
98MP0004133_heterotaxia0.77155096
99MP0000631_abnormal_neuroendocrine_gland0.76797054
100MP0000703_abnormal_thymus_morphology0.76211897
101MP0002161_abnormal_fertility/fecundity0.76076299
102MP0002085_abnormal_embryonic_tissue0.76010983
103MP0004145_abnormal_muscle_electrophysio0.75733730
104MP0000750_abnormal_muscle_regeneration0.75026136
105MP0002429_abnormal_blood_cell0.73839766
106MP0003937_abnormal_limbs/digits/tail_de0.73794887
107MP0001986_abnormal_taste_sensitivity0.73561020
108MP0002163_abnormal_gland_morphology0.73092428
109MP0009785_altered_susceptibility_to0.70063774
110MP0002127_abnormal_cardiovascular_syste0.69985601
111MP0000015_abnormal_ear_pigmentation0.69951818
112MP0002876_abnormal_thyroid_physiology0.69163217
113MP0000372_irregular_coat_pigmentation0.68263303
114MP0004808_abnormal_hematopoietic_stem0.68167961
115MP0001968_abnormal_touch/_nociception0.67077939
116MP0008873_increased_physiological_sensi0.66961783
117MP0005376_homeostasis/metabolism_phenot0.66881937
118MP0008260_abnormal_autophagy0.66298748
119MP0005408_hypopigmentation0.66179562
120MP0005360_urolithiasis0.65765173
121MP0001881_abnormal_mammary_gland0.65717161
122MP0003195_calcinosis0.64144534
123MP0002095_abnormal_skin_pigmentation0.62576510
124MP0001544_abnormal_cardiovascular_syste0.61973011
125MP0005385_cardiovascular_system_phenoty0.61973011
126MP0005671_abnormal_response_to0.61875264
127MP0005085_abnormal_gallbladder_physiolo0.61776673
128MP0003699_abnormal_female_reproductive0.61471961
129MP0002084_abnormal_developmental_patter0.60907328
130MP0005501_abnormal_skin_physiology0.60816112
131MP0003880_abnormal_central_pattern0.60102558
132MP0000716_abnormal_immune_system0.59446553
133MP0001286_abnormal_eye_development0.58918257
134MP0006054_spinal_hemorrhage0.57994184
135MP0001485_abnormal_pinna_reflex0.57890583
136MP0005397_hematopoietic_system_phenotyp0.57299650
137MP0001545_abnormal_hematopoietic_system0.57299650
138MP0009046_muscle_twitch0.56998906
139MP0002148_abnormal_hypersensitivity_rea0.56496846
140MP0004142_abnormal_muscle_tone0.55928770
141MP0008775_abnormal_heart_ventricle0.55890065
142MP0002938_white_spotting0.55616232
143MP0002332_abnormal_exercise_endurance0.55446146

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.52690655
2Abnormal mitochondria in muscle tissue (HP:0008316)5.08620398
3Mitochondrial inheritance (HP:0001427)5.01381949
4Birth length less than 3rd percentile (HP:0003561)4.76644118
5Increased CSF lactate (HP:0002490)4.72536998
6Acute encephalopathy (HP:0006846)4.59703849
7Progressive macrocephaly (HP:0004481)4.56508442
8Hepatocellular necrosis (HP:0001404)4.55933820
9Increased hepatocellular lipid droplets (HP:0006565)4.49038561
10Abnormality of cells of the erythroid lineage (HP:0012130)4.45770612
11Abnormal number of erythroid precursors (HP:0012131)4.36230913
12Hepatic necrosis (HP:0002605)4.28722356
13Abnormality of glycolysis (HP:0004366)4.14639599
14Increased serum pyruvate (HP:0003542)4.14639599
15Lipid accumulation in hepatocytes (HP:0006561)4.09419822
16Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.99575203
17Reticulocytopenia (HP:0001896)3.94584146
18Increased serum lactate (HP:0002151)3.78721890
19Decreased activity of mitochondrial respiratory chain (HP:0008972)3.77309848
20Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.77309848
21Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.56786100
223-Methylglutaconic aciduria (HP:0003535)3.56739075
23Breast hypoplasia (HP:0003187)3.51956153
24Renal Fanconi syndrome (HP:0001994)3.47819856
25Exercise intolerance (HP:0003546)3.47424013
26Oral leukoplakia (HP:0002745)3.36440289
27Lactic acidosis (HP:0003128)3.33887708
28Cerebral edema (HP:0002181)3.32995538
29Increased intramyocellular lipid droplets (HP:0012240)3.29693185
30Exertional dyspnea (HP:0002875)3.27941607
31Respiratory failure (HP:0002878)3.24542447
32Macrocytic anemia (HP:0001972)3.13764460
33Respiratory difficulties (HP:0002880)3.05951193
34Aplastic anemia (HP:0001915)3.03332400
35Increased muscle lipid content (HP:0009058)2.84115402
36Cerebral hypomyelination (HP:0006808)2.78487863
37Chromsome breakage (HP:0040012)2.67112518
38Leukodystrophy (HP:0002415)2.62157629
39Pallor (HP:0000980)2.60037849
40Carpal bone hypoplasia (HP:0001498)2.59329767
41Optic disc pallor (HP:0000543)2.56402315
42Generalized aminoaciduria (HP:0002909)2.49438831
43Rough bone trabeculation (HP:0100670)2.48970262
44Reduced antithrombin III activity (HP:0001976)2.46507909
45Abnormality of the heme biosynthetic pathway (HP:0010472)2.44768229
46Chromosomal breakage induced by crosslinking agents (HP:0003221)2.42887587
47Abnormality of the preputium (HP:0100587)2.42406798
48Microvesicular hepatic steatosis (HP:0001414)2.42086627
49CNS demyelination (HP:0007305)2.35664982
50Type I transferrin isoform profile (HP:0003642)2.35200574
51Abnormality of alanine metabolism (HP:0010916)2.34228417
52Hyperalaninemia (HP:0003348)2.34228417
53Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.34228417
54Patellar aplasia (HP:0006443)2.30598436
55Abnormal protein glycosylation (HP:0012346)2.28289048
56Abnormal glycosylation (HP:0012345)2.28289048
57Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.28289048
58Abnormal protein N-linked glycosylation (HP:0012347)2.28289048
59Aplasia/Hypoplasia of the sacrum (HP:0008517)2.27489313
60Meckel diverticulum (HP:0002245)2.25250368
61Multiple enchondromatosis (HP:0005701)2.25074198
62Nausea (HP:0002018)2.20334449
63Pancytopenia (HP:0001876)2.19294200
64Methylmalonic acidemia (HP:0002912)2.17173041
65Absent thumb (HP:0009777)2.16516909
66Abnormality of the ileum (HP:0001549)2.14180278
67Microretrognathia (HP:0000308)2.13064837
68Abnormality of chromosome stability (HP:0003220)2.12964833
69Aplasia/Hypoplasia of the patella (HP:0006498)2.12926461
70Abnormality of renal resorption (HP:0011038)2.12306792
71Congenital, generalized hypertrichosis (HP:0004540)2.11119274
72Lethargy (HP:0001254)2.08004129
73Cellular immunodeficiency (HP:0005374)2.07135382
74Methylmalonic aciduria (HP:0012120)2.05955581
75Premature graying of hair (HP:0002216)2.05903322
76Abnormality of aromatic amino acid family metabolism (HP:0004338)2.05629660
77Bone marrow hypocellularity (HP:0005528)2.04473271
78Poor head control (HP:0002421)2.04327137
79Abnormality of the anterior horn cell (HP:0006802)2.02753260
80Degeneration of anterior horn cells (HP:0002398)2.02753260
81Emotional lability (HP:0000712)2.01093643
82Hypoplasia of the pons (HP:0012110)1.99601636
83Duplicated collecting system (HP:0000081)1.99564379
84Abnormality of methionine metabolism (HP:0010901)1.97910113
85Abnormality of the pons (HP:0007361)1.96822730
86Type 2 muscle fiber atrophy (HP:0003554)1.96669537
87Hyperphosphaturia (HP:0003109)1.96515724
88Progressive muscle weakness (HP:0003323)1.95364448
89X-linked dominant inheritance (HP:0001423)1.94947282
90Abnormality of urine glucose concentration (HP:0011016)1.94796737
91Glycosuria (HP:0003076)1.94796737
92Abnormality of placental membranes (HP:0011409)1.94337192
93Amniotic constriction ring (HP:0009775)1.94337192
94Testicular atrophy (HP:0000029)1.94165675
95Absent radius (HP:0003974)1.93855121
96Abnormal lung lobation (HP:0002101)1.93834564
97Horseshoe kidney (HP:0000085)1.93489749
98Aplasia/Hypoplasia of the uvula (HP:0010293)1.90780471
99Triphalangeal thumb (HP:0001199)1.85657982
100Muscle fiber atrophy (HP:0100295)1.85611714
101Hyperglycinemia (HP:0002154)1.84980522
102Hypoplastic pelvis (HP:0008839)1.83880595
103Abnormal trabecular bone morphology (HP:0100671)1.83638403
104Aplasia/hypoplasia of the uterus (HP:0008684)1.83266916
105Pancreatic cysts (HP:0001737)1.82455982
106Dicarboxylic aciduria (HP:0003215)1.81412215
107Abnormality of dicarboxylic acid metabolism (HP:0010995)1.81412215
108Abnormality of serum amino acid levels (HP:0003112)1.80298596
109Colon cancer (HP:0003003)1.80023028
110Posterior subcapsular cataract (HP:0007787)1.79626891
111Hypoglycemic coma (HP:0001325)1.78858626
112Secondary amenorrhea (HP:0000869)1.78415289
113Absent forearm bone (HP:0003953)1.78089188
114Aplasia involving forearm bones (HP:0009822)1.78089188
115Megaloblastic anemia (HP:0001889)1.75640597
116Molar tooth sign on MRI (HP:0002419)1.75271320
117Abnormality of midbrain morphology (HP:0002418)1.75271320
118Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.73615175
119Myelodysplasia (HP:0002863)1.72759026
120Small intestinal stenosis (HP:0012848)1.72092664
121Duodenal stenosis (HP:0100867)1.72092664
122Cleft eyelid (HP:0000625)1.70509616
123Unsteady gait (HP:0002317)1.69436269
124Abnormality of the renal collecting system (HP:0004742)1.68612714
125Gliosis (HP:0002171)1.67318136
126Progressive external ophthalmoplegia (HP:0000590)1.67246186
127Rhabdomyolysis (HP:0003201)1.67238423
12811 pairs of ribs (HP:0000878)1.66356603
129Sparse eyelashes (HP:0000653)1.65376236
130Postnatal microcephaly (HP:0005484)1.63972207

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.81934979
2WEE14.01609741
3VRK23.81716782
4EIF2AK13.71626317
5STK163.61018462
6NME23.20679781
7SRPK12.86787156
8CDC72.83143883
9PLK42.66344351
10VRK12.46341027
11EIF2AK32.42412824
12NME12.03388013
13PBK1.94893813
14BRSK21.91490474
15TSSK61.88062946
16CCNB11.79058068
17NEK11.76718063
18MKNK11.72852036
19TESK21.70562156
20ACVR1B1.69372824
21TLK11.60021602
22TTK1.56686635
23PLK11.56451926
24ZAK1.50570496
25BCKDK1.49878793
26PIM21.36788533
27MYLK1.33932352
28BRAF1.33133613
29AURKB1.32946774
30PLK31.30795671
31MST41.28356251
32MAP4K21.26225965
33NEK21.24298412
34BRSK11.21486685
35OBSCN1.18903967
36AURKA1.16790040
37ARAF1.15120830
38IRAK41.13732330
39MKNK21.12798323
40ATR1.11100311
41DYRK31.09663321
42CDK71.04922267
43CDK81.04355661
44EIF2AK21.01861687
45STK41.00168448
46MAP3K120.93781873
47CHEK20.93635349
48MAPK150.91933216
49KDR0.91462337
50MAPKAPK50.90649703
51WNK30.90295059
52PNCK0.90122800
53MUSK0.82714592
54MAPKAPK30.82253221
55CSNK2A10.81327603
56TRIM280.80825525
57IRAK30.78599026
58STK240.77550424
59RPS6KB20.76583572
60ABL20.76235707
61PDK40.73011100
62PDK30.73011100
63CSNK2A20.72258396
64GRK10.71530438
65PDK20.70673238
66MAP3K80.70619079
67DYRK20.70439842
68RPS6KA40.70191828
69MAP3K110.67780890
70LIMK10.66997518
71TESK10.63698600
72PAK10.61742735
73CHEK10.61510320
74RPS6KA50.61050436
75TAOK20.59926336
76TAOK30.59276925
77PINK10.58834962
78CSNK1G30.58795038
79ILK0.57495848
80CDK40.57304606
81STK38L0.56167947
82TXK0.55905292
83CLK10.55187449
84CSNK1G10.54051219
85TEC0.53413659
86INSRR0.52556048
87PASK0.51930088
88SCYL20.50426182
89MAP4K10.49857442
90PLK20.49373249
91ATM0.48872652
92TAF10.48550327
93GRK70.47830900
94PIM10.46668026
95PAK40.42354498
96ERBB30.41273432
97CSNK1E0.40927972
98PRKCI0.40513265
99TIE10.40424987
100CSNK1G20.39984205
101CDK20.39690857
102STK30.37122865
103WNK40.37027067
104EPHA20.35741764
105CDK10.34714300
106CDK190.33963003
107PHKG20.33893911
108PHKG10.33893911
109BCR0.33570845
110MAP2K30.33115249
111TGFBR10.32508357
112ERBB40.32378522
113STK100.32131660
114YES10.31817231
115ADRBK20.31440423
116BTK0.30589537
117AKT20.29847503
118LYN0.28359396
119AKT30.27999954
120LMTK20.27645006
121NUAK10.26799918
122MINK10.25740168
123RAF10.25515082
124CASK0.25354880
125BMPR1B0.25352443
126DAPK10.25189409
127BMPR20.25115734
128DAPK30.24656988
129MAP2K60.23857410

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.50905393
2DNA replication_Homo sapiens_hsa030304.26894941
3* Ribosome_Homo sapiens_hsa030104.22670054
4Mismatch repair_Homo sapiens_hsa034303.75173977
5RNA polymerase_Homo sapiens_hsa030203.58296090
6Oxidative phosphorylation_Homo sapiens_hsa001903.32635912
7Parkinsons disease_Homo sapiens_hsa050123.08142262
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.88836896
9Homologous recombination_Homo sapiens_hsa034402.67918800
10Spliceosome_Homo sapiens_hsa030402.64696524
11Pyrimidine metabolism_Homo sapiens_hsa002402.61072324
12Nucleotide excision repair_Homo sapiens_hsa034202.57629185
13Huntingtons disease_Homo sapiens_hsa050162.40230782
14Base excision repair_Homo sapiens_hsa034102.39657636
15RNA transport_Homo sapiens_hsa030132.24463437
16Alzheimers disease_Homo sapiens_hsa050101.97367247
17Non-homologous end-joining_Homo sapiens_hsa034501.91061466
18Protein export_Homo sapiens_hsa030601.78736951
19Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.77219052
20One carbon pool by folate_Homo sapiens_hsa006701.75661114
21Fanconi anemia pathway_Homo sapiens_hsa034601.74354388
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.74334122
23Basal transcription factors_Homo sapiens_hsa030221.72254706
24Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.69882541
25Cell cycle_Homo sapiens_hsa041101.68561262
26RNA degradation_Homo sapiens_hsa030181.66363257
27Purine metabolism_Homo sapiens_hsa002301.45667014
28Sulfur metabolism_Homo sapiens_hsa009201.38343105
29Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.22087144
30Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.19373247
31Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.16954349
32Cardiac muscle contraction_Homo sapiens_hsa042601.15694881
33Cysteine and methionine metabolism_Homo sapiens_hsa002701.11987183
342-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.10020642
35Carbon metabolism_Homo sapiens_hsa012001.00066897
36Glutathione metabolism_Homo sapiens_hsa004800.93178480
37Folate biosynthesis_Homo sapiens_hsa007900.90412784
38Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.89486927
39mRNA surveillance pathway_Homo sapiens_hsa030150.87832107
40Drug metabolism - other enzymes_Homo sapiens_hsa009830.86442535
41Epstein-Barr virus infection_Homo sapiens_hsa051690.85457926
42Biosynthesis of amino acids_Homo sapiens_hsa012300.85259165
43Vitamin B6 metabolism_Homo sapiens_hsa007500.84735372
44Pentose phosphate pathway_Homo sapiens_hsa000300.84725219
45Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.84108468
46p53 signaling pathway_Homo sapiens_hsa041150.83077411
47Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.79561849
48Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.79365682
49Pyruvate metabolism_Homo sapiens_hsa006200.77806414
50Butanoate metabolism_Homo sapiens_hsa006500.73681446
51Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.73532544
52Sulfur relay system_Homo sapiens_hsa041220.73516453
53Metabolic pathways_Homo sapiens_hsa011000.73096966
54Fatty acid elongation_Homo sapiens_hsa000620.71101672
55Systemic lupus erythematosus_Homo sapiens_hsa053220.67507959
56Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.65489984
57Propanoate metabolism_Homo sapiens_hsa006400.61107408
58Maturity onset diabetes of the young_Homo sapiens_hsa049500.57793870
59Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.55906860
60Arachidonic acid metabolism_Homo sapiens_hsa005900.54456257
61Caffeine metabolism_Homo sapiens_hsa002320.50892845
62Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.49788049
63Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.48752597
64Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.48129384
65Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.45318151
66Tryptophan metabolism_Homo sapiens_hsa003800.45260473
67Fatty acid metabolism_Homo sapiens_hsa012120.44041992
68Fructose and mannose metabolism_Homo sapiens_hsa000510.43215654
69Cyanoamino acid metabolism_Homo sapiens_hsa004600.41649554
70Arginine and proline metabolism_Homo sapiens_hsa003300.40543442
71Nitrogen metabolism_Homo sapiens_hsa009100.39502599
72Oocyte meiosis_Homo sapiens_hsa041140.36814258
73Primary bile acid biosynthesis_Homo sapiens_hsa001200.35482649
74Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.35375274
75Primary immunodeficiency_Homo sapiens_hsa053400.35233751
76Herpes simplex infection_Homo sapiens_hsa051680.34387479
77Linoleic acid metabolism_Homo sapiens_hsa005910.33595011
78Antigen processing and presentation_Homo sapiens_hsa046120.32840407
79Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.32634772
80Galactose metabolism_Homo sapiens_hsa000520.31464345
81Peroxisome_Homo sapiens_hsa041460.30954082
82Legionellosis_Homo sapiens_hsa051340.29564704
83Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.29553427
84Steroid hormone biosynthesis_Homo sapiens_hsa001400.29276582
85Phototransduction_Homo sapiens_hsa047440.29011978
86Retinol metabolism_Homo sapiens_hsa008300.28307353
87Graft-versus-host disease_Homo sapiens_hsa053320.23864495
88Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.23378438
89Tyrosine metabolism_Homo sapiens_hsa003500.21761901
90Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.21306049
91Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.20818044
92Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.20809573
93Allograft rejection_Homo sapiens_hsa053300.20509151
94Phenylalanine metabolism_Homo sapiens_hsa003600.20351091
95Regulation of autophagy_Homo sapiens_hsa041400.19809855
96Selenocompound metabolism_Homo sapiens_hsa004500.19630522
97Vitamin digestion and absorption_Homo sapiens_hsa049770.19247558
98Olfactory transduction_Homo sapiens_hsa047400.18337462
99Viral carcinogenesis_Homo sapiens_hsa052030.18183509
100Collecting duct acid secretion_Homo sapiens_hsa049660.17630855
101Fat digestion and absorption_Homo sapiens_hsa049750.17465422
102Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.15274604
103alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.15187813
104Steroid biosynthesis_Homo sapiens_hsa001000.15066877
105Mineral absorption_Homo sapiens_hsa049780.14841788
106Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.14052851
107Asthma_Homo sapiens_hsa053100.12411893
108Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.11981228
109SNARE interactions in vesicular transport_Homo sapiens_hsa041300.11207069
110Ether lipid metabolism_Homo sapiens_hsa005650.11121053
111Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.11051928
112Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.10724768
113Intestinal immune network for IgA production_Homo sapiens_hsa046720.09201773
114beta-Alanine metabolism_Homo sapiens_hsa004100.08795314
115Autoimmune thyroid disease_Homo sapiens_hsa053200.07000529
116HTLV-I infection_Homo sapiens_hsa051660.06159947
117N-Glycan biosynthesis_Homo sapiens_hsa005100.05274460
118Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.05107699
119Renin-angiotensin system_Homo sapiens_hsa046140.03789011
120Chemical carcinogenesis_Homo sapiens_hsa052040.03582033
121Pentose and glucuronate interconversions_Homo sapiens_hsa000400.02931064
122Fatty acid degradation_Homo sapiens_hsa000710.02431351

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