MRM3

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: Efficient translation of mitochondrial-derived transcripts requires proper assembly of the large subunit of the mitochondrial ribosome. Central to the biogenesis of this large subunit is the A-loop of mitochondrial 16S rRNA, which is modified by three rRNA methyltransferases located near mtDNA nucleoids. The protein encoded by this gene methylates G(1370) of 16S rRNA, and this modification is necessary for proper ribosomal large subnit assembly. Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1establishment of protein localization to mitochondrial membrane (GO:0090151)4.68573134
2proteasome assembly (GO:0043248)4.54942470
3ribosomal small subunit assembly (GO:0000028)4.54234785
4maturation of SSU-rRNA (GO:0030490)4.43793163
5chaperone-mediated protein transport (GO:0072321)4.41973911
6DNA strand elongation involved in DNA replication (GO:0006271)4.31730474
7regulation of mitochondrial translation (GO:0070129)4.29747063
8mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.28607330
9telomere maintenance via semi-conservative replication (GO:0032201)4.26690302
10DNA strand elongation (GO:0022616)4.16654410
11negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.03052140
12RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)4.00912200
13tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)4.00912200
14energy coupled proton transport, down electrochemical gradient (GO:0015985)3.93624137
15ATP synthesis coupled proton transport (GO:0015986)3.93624137
16rRNA modification (GO:0000154)3.93560279
17viral transcription (GO:0019083)3.90776689
18pseudouridine synthesis (GO:0001522)3.87502040
19nucleotide salvage (GO:0043173)3.87492289
20translational termination (GO:0006415)3.87128289
21ribosome biogenesis (GO:0042254)3.83196267
22ribosomal large subunit biogenesis (GO:0042273)3.79807334
23positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.74960444
24ribonucleoprotein complex biogenesis (GO:0022613)3.74270311
25ribosomal small subunit biogenesis (GO:0042274)3.73314639
26regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.72650864
27translational elongation (GO:0006414)3.70738751
28negative regulation of ligase activity (GO:0051352)3.70040246
29negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.70040246
30DNA replication checkpoint (GO:0000076)3.66936089
31nucleoside salvage (GO:0043174)3.63706288
32metallo-sulfur cluster assembly (GO:0031163)3.62287870
33iron-sulfur cluster assembly (GO:0016226)3.62287870
34purine nucleobase biosynthetic process (GO:0009113)3.61327496
35DNA deamination (GO:0045006)3.61294186
36mitochondrial respiratory chain complex assembly (GO:0033108)3.60960756
37anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.60653503
38protein complex biogenesis (GO:0070271)3.58450380
39deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.58272943
40cellular component biogenesis (GO:0044085)3.57647988
41SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.55105948
42ribosome assembly (GO:0042255)3.50356048
43tRNA modification (GO:0006400)3.49692174
44telomere maintenance via recombination (GO:0000722)3.49162269
45rRNA processing (GO:0006364)3.48648081
46cotranslational protein targeting to membrane (GO:0006613)3.48586032
47nucleobase biosynthetic process (GO:0046112)3.45385988
48protein targeting to ER (GO:0045047)3.44697959
49translation (GO:0006412)3.43619349
50establishment of integrated proviral latency (GO:0075713)3.38975879
51protein targeting to mitochondrion (GO:0006626)3.35613618
52mitochondrial RNA metabolic process (GO:0000959)3.34765814
53rRNA metabolic process (GO:0016072)3.33852244
54nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.32667638
55DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.31734169
56signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.31545344
57signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.31545344
58signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.31545344
59regulation of cellular amino acid metabolic process (GO:0006521)3.30224454
60protein localization to endoplasmic reticulum (GO:0070972)3.29229082
61establishment of protein localization to endoplasmic reticulum (GO:0072599)3.28626409
62deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.27788790
63respiratory electron transport chain (GO:0022904)3.27612175
64translational initiation (GO:0006413)3.27510042
65exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.27067751
66intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.26799815
67signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.26799815
68tRNA processing (GO:0008033)3.26072207
69mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.25322749
70termination of RNA polymerase III transcription (GO:0006386)3.25224314
71transcription elongation from RNA polymerase III promoter (GO:0006385)3.25224314
72cytochrome complex assembly (GO:0017004)3.24532245
73positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.23416595
74respiratory chain complex IV assembly (GO:0008535)3.23085497
75signal transduction involved in DNA integrity checkpoint (GO:0072401)3.22756257
76signal transduction involved in DNA damage checkpoint (GO:0072422)3.22756257
77purine nucleotide salvage (GO:0032261)3.22753040
78nucleotide-excision repair, DNA gap filling (GO:0006297)3.21900534
79pyrimidine nucleoside triphosphate metabolic process (GO:0009147)3.21675708
80electron transport chain (GO:0022900)3.21557471
81pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.20667904
82mitotic recombination (GO:0006312)3.20433417
83DNA replication initiation (GO:0006270)3.19416226
84purine deoxyribonucleotide catabolic process (GO:0009155)3.17767265
85signal transduction involved in cell cycle checkpoint (GO:0072395)3.17534050
86pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.17504679
87nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.15665083
88mitochondrial respiratory chain complex I assembly (GO:0032981)3.14857837
89NADH dehydrogenase complex assembly (GO:0010257)3.14857837
90mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.14857837
91formation of translation preinitiation complex (GO:0001731)3.14843437
92telomere maintenance via telomere lengthening (GO:0010833)3.14275019
93pyrimidine-containing compound salvage (GO:0008655)3.14251409
94pyrimidine nucleoside salvage (GO:0043097)3.14251409
95establishment of protein localization to mitochondrion (GO:0072655)3.13948755
96rRNA methylation (GO:0031167)3.13566925
97oxidative phosphorylation (GO:0006119)3.13048253
98positive regulation of ligase activity (GO:0051351)3.11003790
99DNA ligation (GO:0006266)3.10929562
100spliceosomal snRNP assembly (GO:0000387)3.10540634

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.76804688
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.51292747
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.06872153
4JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.92609503
5GABP_17652178_ChIP-ChIP_JURKAT_Human3.90271754
6NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.71018196
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.62617515
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.53869642
9EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.41584689
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.38058088
11HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.29526255
12CREB1_15753290_ChIP-ChIP_HEK293T_Human3.25505160
13MYC_18358816_ChIP-ChIP_MESCs_Mouse3.14068352
14E2F4_17652178_ChIP-ChIP_JURKAT_Human2.93419878
15MYC_19030024_ChIP-ChIP_MESCs_Mouse2.74132410
16CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.72543880
17ELF1_17652178_ChIP-ChIP_JURKAT_Human2.67016980
18THAP11_20581084_ChIP-Seq_MESCs_Mouse2.64940634
19HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.64634745
20VDR_23849224_ChIP-Seq_CD4+_Human2.58377044
21MYC_19079543_ChIP-ChIP_MESCs_Mouse2.57253952
22FOXP3_21729870_ChIP-Seq_TREG_Human2.42449290
23XRN2_22483619_ChIP-Seq_HELA_Human2.36555873
24SRF_21415370_ChIP-Seq_HL-1_Mouse2.31366910
25DCP1A_22483619_ChIP-Seq_HELA_Human2.30202835
26FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.26381474
27E2F1_18555785_ChIP-Seq_MESCs_Mouse2.23131032
28GABP_19822575_ChIP-Seq_HepG2_Human2.21981360
29PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.20085386
30NELFA_20434984_ChIP-Seq_ESCs_Mouse2.15555422
31TTF2_22483619_ChIP-Seq_HELA_Human2.11040737
32SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.09290485
33MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.03876534
34MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.99332598
35YY1_21170310_ChIP-Seq_MESCs_Mouse1.98531020
36ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.91963238
37ELK1_19687146_ChIP-ChIP_HELA_Human1.87658702
38TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.79967485
39HOXB4_20404135_ChIP-ChIP_EML_Mouse1.79886673
40FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.78220116
41CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.77990584
42PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.75467160
43POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.75068141
44YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.71114545
45NOTCH1_21737748_ChIP-Seq_TLL_Human1.68010220
46SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.62713227
47TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.60073239
48KDM5A_27292631_Chip-Seq_BREAST_Human1.58717598
49MYCN_18555785_ChIP-Seq_MESCs_Mouse1.56494826
50FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.54734810
51CIITA_25753668_ChIP-Seq_RAJI_Human1.53911355
52CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.53360338
53CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.52664384
54FOXM1_23109430_ChIP-Seq_U2OS_Human1.51999547
55MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.48993406
56E2F1_21310950_ChIP-Seq_MCF-7_Human1.47944467
57BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.47036085
58ZFX_18555785_ChIP-Seq_MESCs_Mouse1.46350772
59POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.44645106
60PADI4_21655091_ChIP-ChIP_MCF-7_Human1.38189195
61ERG_20887958_ChIP-Seq_HPC-7_Mouse1.37996333
62MYC_18940864_ChIP-ChIP_HL60_Human1.34029626
63CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.33645216
64E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.28266323
65NANOG_18555785_ChIP-Seq_MESCs_Mouse1.20624818
66SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.18428742
67DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.18254664
68SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.16958910
69CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.10888213
70SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.07128814
71CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.03352882
72TFEB_21752829_ChIP-Seq_HELA_Human1.01552002
73AR_21909140_ChIP-Seq_LNCAP_Human0.95174159
74FOXP1_21924763_ChIP-Seq_HESCs_Human0.95042772
75CTCF_18555785_ChIP-Seq_MESCs_Mouse0.93400843
76CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.90861074
77IRF1_19129219_ChIP-ChIP_H3396_Human0.90017608
78ELK1_22589737_ChIP-Seq_MCF10A_Human0.89585357
79ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.87963389
80KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.86395611
81GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.86177574
82PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.84429725
83HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.83729082
84HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.83694095
85FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82680180
86ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.80628403
87CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.75701493
88EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.73701741
89ELF1_20517297_ChIP-Seq_JURKAT_Human0.73222205
90ZNF274_21170338_ChIP-Seq_K562_Hela0.71044207
91KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.69995722
92RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.69152794
93YY1_22570637_ChIP-Seq_MALME-3M_Human0.68168778
94CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.67875674
95TET1_21451524_ChIP-Seq_MESCs_Mouse0.67677845
96TBX5_21415370_ChIP-Seq_HL-1_Mouse0.67560465
97SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.67519122
98SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.67194617
99TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.67070684
100SOX2_16153702_ChIP-ChIP_HESCs_Human0.66855596

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability4.60699782
2MP0008058_abnormal_DNA_repair4.43837895
3MP0003693_abnormal_embryo_hatching4.43789414
4MP0003806_abnormal_nucleotide_metabolis4.14060581
5MP0003111_abnormal_nucleus_morphology3.75790572
6MP0004957_abnormal_blastocyst_morpholog3.54663145
7MP0003077_abnormal_cell_cycle3.25350003
8MP0006292_abnormal_olfactory_placode2.82731264
9MP0006036_abnormal_mitochondrial_physio2.82105139
10MP0008932_abnormal_embryonic_tissue2.65891368
11MP0003718_maternal_effect2.61219554
12MP0003646_muscle_fatigue2.57117973
13MP0006035_abnormal_mitochondrial_morpho2.39920606
14MP0005075_abnormal_melanosome_morpholog2.23496960
15MP0008007_abnormal_cellular_replicative2.18063568
16MP0003786_premature_aging2.01491066
17MP0000372_irregular_coat_pigmentation1.99039608
18MP0003186_abnormal_redox_activity1.97525343
19MP0002102_abnormal_ear_morphology1.90789829
20MP0009697_abnormal_copulation1.81003626
21MP0004147_increased_porphyrin_level1.79879533
22MP0002837_dystrophic_cardiac_calcinosis1.76727181
23MP0002234_abnormal_pharynx_morphology1.76521559
24MP0008057_abnormal_DNA_replication1.69523659
25MP0008877_abnormal_DNA_methylation1.59879833
26MP0009333_abnormal_splenocyte_physiolog1.58564996
27MP0009379_abnormal_foot_pigmentation1.47322794
28MP0001293_anophthalmia1.43005133
29MP0001764_abnormal_homeostasis1.42013427
30MP0000358_abnormal_cell_content/1.39670399
31MP0000350_abnormal_cell_proliferation1.35579982
32MP0008789_abnormal_olfactory_epithelium1.34556590
33MP0000313_abnormal_cell_death1.31042028
34MP0001730_embryonic_growth_arrest1.29123917
35MP0002938_white_spotting1.28922302
36MP0001727_abnormal_embryo_implantation1.25999189
37MP0006072_abnormal_retinal_apoptosis1.23948062
38MP0002019_abnormal_tumor_incidence1.22814233
39MP0002210_abnormal_sex_determination1.21562680
40MP0001529_abnormal_vocalization1.14833454
41MP0001929_abnormal_gametogenesis1.13056079
42MP0008875_abnormal_xenobiotic_pharmacok1.04537220
43MP0002163_abnormal_gland_morphology1.00615134
44MP0005266_abnormal_metabolism0.99653979
45MP0003136_yellow_coat_color0.99502239
46MP0005084_abnormal_gallbladder_morpholo0.96898461
47MP0001905_abnormal_dopamine_level0.96852285
48MP0002095_abnormal_skin_pigmentation0.95536065
49MP0000490_abnormal_crypts_of0.94293707
50MP0002080_prenatal_lethality0.93287820
51MP0005408_hypopigmentation0.93125710
52MP0001661_extended_life_span0.93010838
53MP0001145_abnormal_male_reproductive0.90626613
54MP0001697_abnormal_embryo_size0.89982754
55MP0001919_abnormal_reproductive_system0.89597013
56MP0002736_abnormal_nociception_after0.88520876
57MP0008873_increased_physiological_sensi0.86404172
58MP0005330_cardiomyopathy0.85203060
59MP0000653_abnormal_sex_gland0.83946628
60MP0000689_abnormal_spleen_morphology0.83860271
61MP0001346_abnormal_lacrimal_gland0.83318768
62MP0002160_abnormal_reproductive_system0.82927353
63MP0005389_reproductive_system_phenotype0.82529672
64MP0001986_abnormal_taste_sensitivity0.81718521
65MP0005645_abnormal_hypothalamus_physiol0.79296202
66MP0005671_abnormal_response_to0.79163989
67MP0005380_embryogenesis_phenotype0.78843907
68MP0001672_abnormal_embryogenesis/_devel0.78843907
69MP0008872_abnormal_physiological_respon0.78013126
70MP0001853_heart_inflammation0.76977640
71MP0002722_abnormal_immune_system0.76170345
72MP0002277_abnormal_respiratory_mucosa0.75583010
73MP0010030_abnormal_orbit_morphology0.75579855
74MP0005410_abnormal_fertilization0.75285730
75MP0008995_early_reproductive_senescence0.75138141
76MP0010307_abnormal_tumor_latency0.74082138
77MP0005332_abnormal_amino_acid0.73406577
78MP0000703_abnormal_thymus_morphology0.73051602
79MP0005451_abnormal_body_composition0.72447986
80MP0001119_abnormal_female_reproductive0.71223760
81MP0002638_abnormal_pupillary_reflex0.70508014
82MP0002429_abnormal_blood_cell0.69820310
83MP0005394_taste/olfaction_phenotype0.67404238
84MP0005499_abnormal_olfactory_system0.67404238
85MP0002398_abnormal_bone_marrow0.66551473
86MP0002085_abnormal_embryonic_tissue0.66093939
87MP0005377_hearing/vestibular/ear_phenot0.64465680
88MP0003878_abnormal_ear_physiology0.64465680
89MP0002396_abnormal_hematopoietic_system0.62913814
90MP0003984_embryonic_growth_retardation0.60976805
91MP0003567_abnormal_fetal_cardiomyocyte0.60295822
92MP0003698_abnormal_male_reproductive0.59045070
93MP0002088_abnormal_embryonic_growth/wei0.56493491
94MP0003315_abnormal_perineum_morphology0.56279608
95MP0001881_abnormal_mammary_gland0.56061587
96MP0009765_abnormal_xenobiotic_induced0.56044892
97MP0004233_abnormal_muscle_weight0.55602620
98MP0002233_abnormal_nose_morphology0.53912200
99MP0000749_muscle_degeneration0.53515053
100MP0002148_abnormal_hypersensitivity_rea0.52539105

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.92631117
2Abnormal mitochondria in muscle tissue (HP:0008316)4.92609138
3Mitochondrial inheritance (HP:0001427)4.62285586
4Acute encephalopathy (HP:0006846)4.37502716
5Hepatocellular necrosis (HP:0001404)4.28455830
6Increased CSF lactate (HP:0002490)4.25188230
7Hepatic necrosis (HP:0002605)3.94809289
8Decreased activity of mitochondrial respiratory chain (HP:0008972)3.88478164
9Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.88478164
10Progressive macrocephaly (HP:0004481)3.85405239
11Abnormal number of erythroid precursors (HP:0012131)3.79426230
12Abnormality of cells of the erythroid lineage (HP:0012130)3.70797621
13Increased intramyocellular lipid droplets (HP:0012240)3.67066093
14Lipid accumulation in hepatocytes (HP:0006561)3.62684354
15Increased hepatocellular lipid droplets (HP:0006565)3.61151405
16Increased serum lactate (HP:0002151)3.49025985
17Microvesicular hepatic steatosis (HP:0001414)3.44198658
18Cerebral edema (HP:0002181)3.42752252
19Aplastic anemia (HP:0001915)3.42373090
20Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.36031012
21Lactic acidosis (HP:0003128)3.32637287
22Progressive muscle weakness (HP:0003323)3.31147642
23Increased muscle lipid content (HP:0009058)3.29400614
24Exercise intolerance (HP:0003546)3.27814671
25Reticulocytopenia (HP:0001896)3.11231069
26Aplasia/Hypoplasia of the sacrum (HP:0008517)3.07794550
27Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.92207433
28Chromosomal breakage induced by crosslinking agents (HP:0003221)2.77536071
29Colon cancer (HP:0003003)2.76346042
30Birth length less than 3rd percentile (HP:0003561)2.73101304
31Renal Fanconi syndrome (HP:0001994)2.69811976
32Respiratory failure (HP:0002878)2.67184784
333-Methylglutaconic aciduria (HP:0003535)2.65652482
34Type I transferrin isoform profile (HP:0003642)2.65189581
35Microretrognathia (HP:0000308)2.55065646
36Chromsome breakage (HP:0040012)2.54288787
37Ragged-red muscle fibers (HP:0003200)2.52237857
38Macrocytic anemia (HP:0001972)2.49683650
39Multiple enchondromatosis (HP:0005701)2.45232377
40Absent thumb (HP:0009777)2.44808251
41Hyperglycinemia (HP:0002154)2.43644520
42Progressive microcephaly (HP:0000253)2.42731148
43Increased serum pyruvate (HP:0003542)2.41075140
44Meckel diverticulum (HP:0002245)2.38929985
45Abnormality of the ileum (HP:0001549)2.35605214
46Lethargy (HP:0001254)2.31923692
47Hypoplasia of the pons (HP:0012110)2.31915349
48Abnormal protein glycosylation (HP:0012346)2.31778341
49Abnormal glycosylation (HP:0012345)2.31778341
50Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.31778341
51Abnormal protein N-linked glycosylation (HP:0012347)2.31778341
52Reduced antithrombin III activity (HP:0001976)2.30446048
53Abnormality of the preputium (HP:0100587)2.29689088
54Opisthotonus (HP:0002179)2.29234448
55Abnormal biliary tract physiology (HP:0012439)2.25554813
56Bile duct proliferation (HP:0001408)2.25554813
57Abnormality of glycolysis (HP:0004366)2.24540698
58Abnormality of the pons (HP:0007361)2.22142191
59Pancytopenia (HP:0001876)2.21804199
60Leukodystrophy (HP:0002415)2.19383091
61Abnormality of alanine metabolism (HP:0010916)2.18023296
62Hyperalaninemia (HP:0003348)2.18023296
63Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.18023296
64Type 2 muscle fiber atrophy (HP:0003554)2.16647957
65Muscle fiber atrophy (HP:0100295)2.14606016
66Optic disc pallor (HP:0000543)2.13454034
67Progressive external ophthalmoplegia (HP:0000590)2.12948517
68Respiratory difficulties (HP:0002880)2.10844973
69Aplasia/Hypoplasia of the uvula (HP:0010293)2.09871737
70CNS demyelination (HP:0007305)2.02393901
71Abnormality of chromosome stability (HP:0003220)2.00095216
72Dicarboxylic aciduria (HP:0003215)1.99417084
73Abnormality of dicarboxylic acid metabolism (HP:0010995)1.99417084
74Generalized aminoaciduria (HP:0002909)1.98845766
75Methylmalonic aciduria (HP:0012120)1.98426910
76Abnormality of the anterior horn cell (HP:0006802)1.97516102
77Degeneration of anterior horn cells (HP:0002398)1.97516102
78Exertional dyspnea (HP:0002875)1.95215358
79Prostate neoplasm (HP:0100787)1.94748036
80Testicular atrophy (HP:0000029)1.92548325
81Emotional lability (HP:0000712)1.89715471
82Cleft eyelid (HP:0000625)1.86922272
83Pallor (HP:0000980)1.86678593
84Abnormality of midbrain morphology (HP:0002418)1.85626463
85Molar tooth sign on MRI (HP:0002419)1.85626463
86Horseshoe kidney (HP:0000085)1.83437042
87Poor suck (HP:0002033)1.81090956
88Cerebral hypomyelination (HP:0006808)1.79272893
89Pancreatic fibrosis (HP:0100732)1.78926146
90Abnormality of serum amino acid levels (HP:0003112)1.78863197
91Pancreatic cysts (HP:0001737)1.78753660
92Gliosis (HP:0002171)1.76810164
93Triphalangeal thumb (HP:0001199)1.76474787
94Premature ovarian failure (HP:0008209)1.76250542
95Dysphonia (HP:0001618)1.73070055
96Retinal dysplasia (HP:0007973)1.72875460
97Methylmalonic acidemia (HP:0002912)1.69535595
98IgM deficiency (HP:0002850)1.67403033
99Myelodysplasia (HP:0002863)1.67094322
100Abnormality of the labia minora (HP:0012880)1.62634736

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK25.10786056
2BUB14.34366703
3CDC73.57015537
4STK163.56821061
5ZAK3.42692609
6TESK23.28721457
7NME22.99079940
8SRPK12.68295631
9BCKDK2.57100091
10VRK12.47466578
11KDR2.35961401
12NEK12.31713037
13NUAK12.25810164
14TRIM282.02033304
15TSSK61.91647912
16TTK1.72261717
17PBK1.70615950
18TLK11.70357641
19NME11.70022904
20PDK21.64203100
21EIF2AK31.61782516
22EIF2AK11.51846344
23PLK11.46050502
24PIM21.45861989
25PLK31.45767571
26TAF11.42106833
27MST41.41074311
28CHEK21.38856475
29AURKA1.33266558
30MAP3K111.33181083
31ATR1.33048977
32LIMK11.28499676
33TAOK31.21466641
34PASK1.21252804
35AURKB1.15960800
36PLK41.15378412
37TESK11.12895966
38CCNB11.07660500
39CDK191.07559078
40DAPK11.05610528
41RPS6KA51.04877733
42WEE11.01921385
43ABL20.98016374
44GRK10.96902551
45BRSK20.96132432
46SMG10.92854135
47BRSK10.91841862
48DYRK20.84059868
49MKNK10.83890826
50CDK70.82256026
51CHEK10.80571584
52DAPK30.76603662
53CSNK2A10.74039067
54CSNK1G30.72069874
55CSNK1G10.70993397
56CSNK2A20.69493890
57RPS6KA40.65639574
58CDK40.65323350
59CDK80.62883403
60OBSCN0.62667674
61INSRR0.61827019
62EIF2AK20.61375298
63MAPKAPK50.57081591
64SCYL20.56784344
65PIM10.56497175
66ATM0.55934472
67BRAF0.55735155
68BMPR1B0.51800953
69MAP4K10.51152573
70RPS6KB20.49651062
71ADRBK20.47248898
72IKBKB0.44468955
73CDK20.44463119
74MKNK20.44257815
75ALK0.43195603
76MAP2K70.41193828
77PRKCI0.40915327
78MAP3K80.40806689
79CSNK1A1L0.39371197
80AKT20.38567527
81STK100.37473471
82CSNK1G20.35794932
83TIE10.35312960
84MAPKAPK30.34935254
85PAK10.34677346
86MAP3K50.34577076
87CDK10.34562600
88IRAK30.33414236
89NEK20.32594977
90WNK30.31837322
91ERBB40.30884477
92PHKG10.30452125
93PHKG20.30452125
94PRKCQ0.30039033
95CSNK1A10.27562227
96ARAF0.26928574
97LRRK20.26190388
98STK40.23738357
99MAP4K20.22664061
100MAP3K120.21694242

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.14255066
2Proteasome_Homo sapiens_hsa030504.07531458
3Ribosome_Homo sapiens_hsa030103.92515871
4Mismatch repair_Homo sapiens_hsa034303.16415224
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.94166040
6Oxidative phosphorylation_Homo sapiens_hsa001902.94008992
7RNA polymerase_Homo sapiens_hsa030202.84582041
8Sulfur relay system_Homo sapiens_hsa041222.74201790
9Parkinsons disease_Homo sapiens_hsa050122.70566567
10Base excision repair_Homo sapiens_hsa034102.63724780
11Homologous recombination_Homo sapiens_hsa034402.58919052
12Pyrimidine metabolism_Homo sapiens_hsa002402.30528812
13Spliceosome_Homo sapiens_hsa030402.16185748
14Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.03728179
15Nucleotide excision repair_Homo sapiens_hsa034201.95833206
16Huntingtons disease_Homo sapiens_hsa050161.91482666
17Fanconi anemia pathway_Homo sapiens_hsa034601.86579991
18RNA transport_Homo sapiens_hsa030131.84118804
19Protein export_Homo sapiens_hsa030601.83819932
20Non-homologous end-joining_Homo sapiens_hsa034501.81387250
21One carbon pool by folate_Homo sapiens_hsa006701.73637603
22Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.72452463
232-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.59039365
24RNA degradation_Homo sapiens_hsa030181.55816572
25Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.53915766
26Alzheimers disease_Homo sapiens_hsa050101.53887722
27Cysteine and methionine metabolism_Homo sapiens_hsa002701.52054994
28Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.47677288
29Purine metabolism_Homo sapiens_hsa002301.47333277
30Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.44556973
31Fatty acid elongation_Homo sapiens_hsa000621.38391032
32Basal transcription factors_Homo sapiens_hsa030221.30774834
33Cell cycle_Homo sapiens_hsa041101.29675663
34Primary immunodeficiency_Homo sapiens_hsa053401.29101946
35Carbon metabolism_Homo sapiens_hsa012001.25538088
36Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.24177083
37Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.23806514
38Biosynthesis of amino acids_Homo sapiens_hsa012301.23568042
39Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.22901766
40Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.21588641
41Folate biosynthesis_Homo sapiens_hsa007901.19479787
42Pyruvate metabolism_Homo sapiens_hsa006201.19006576
43Pentose phosphate pathway_Homo sapiens_hsa000301.15623034
44Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.11614517
45Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.05558580
46Cardiac muscle contraction_Homo sapiens_hsa042601.01998617
47Propanoate metabolism_Homo sapiens_hsa006401.00448593
48Drug metabolism - other enzymes_Homo sapiens_hsa009830.94648184
49Glutathione metabolism_Homo sapiens_hsa004800.87291027
50Systemic lupus erythematosus_Homo sapiens_hsa053220.84989292
51Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.84188940
52mRNA surveillance pathway_Homo sapiens_hsa030150.82319808
53Selenocompound metabolism_Homo sapiens_hsa004500.81381521
54Metabolic pathways_Homo sapiens_hsa011000.76764400
55Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.75374013
56Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.73554717
57Butanoate metabolism_Homo sapiens_hsa006500.72591988
58Peroxisome_Homo sapiens_hsa041460.72050094
59Tryptophan metabolism_Homo sapiens_hsa003800.57011295
60Steroid biosynthesis_Homo sapiens_hsa001000.56436868
61p53 signaling pathway_Homo sapiens_hsa041150.56000846
62Epstein-Barr virus infection_Homo sapiens_hsa051690.55586169
63Fatty acid metabolism_Homo sapiens_hsa012120.50601287
64Vitamin B6 metabolism_Homo sapiens_hsa007500.48459618
65Galactose metabolism_Homo sapiens_hsa000520.47494826
66Sulfur metabolism_Homo sapiens_hsa009200.44905824
67Fructose and mannose metabolism_Homo sapiens_hsa000510.41412497
68Arginine and proline metabolism_Homo sapiens_hsa003300.37961247
69Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.36066649
70Fatty acid degradation_Homo sapiens_hsa000710.34667652
71Antigen processing and presentation_Homo sapiens_hsa046120.33535852
72Pentose and glucuronate interconversions_Homo sapiens_hsa000400.31731232
73N-Glycan biosynthesis_Homo sapiens_hsa005100.31304838
74Fat digestion and absorption_Homo sapiens_hsa049750.30554860
75Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.29129785
76Phenylalanine metabolism_Homo sapiens_hsa003600.28070612
77Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.27650065
78Alcoholism_Homo sapiens_hsa050340.26930058
79Oocyte meiosis_Homo sapiens_hsa041140.24794008
80Regulation of autophagy_Homo sapiens_hsa041400.23253329
81Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.22684177
82Caffeine metabolism_Homo sapiens_hsa002320.22450239
83Herpes simplex infection_Homo sapiens_hsa051680.22158624
84beta-Alanine metabolism_Homo sapiens_hsa004100.20902425
85Collecting duct acid secretion_Homo sapiens_hsa049660.20843251
86Phototransduction_Homo sapiens_hsa047440.19836052
87Tyrosine metabolism_Homo sapiens_hsa003500.19548911
88Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.18420968
89Primary bile acid biosynthesis_Homo sapiens_hsa001200.15443252
90Viral carcinogenesis_Homo sapiens_hsa052030.13001494
91Arginine biosynthesis_Homo sapiens_hsa002200.12055845
92Hematopoietic cell lineage_Homo sapiens_hsa046400.10779988
93Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.10466057
94Intestinal immune network for IgA production_Homo sapiens_hsa046720.09760715
95Linoleic acid metabolism_Homo sapiens_hsa005910.08138965
96Chemical carcinogenesis_Homo sapiens_hsa052040.08008281
97Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.07939093
98Rheumatoid arthritis_Homo sapiens_hsa053230.07804230
99Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.07292838
100Steroid hormone biosynthesis_Homo sapiens_hsa001400.07133198

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