TSFM

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 gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA deamination (GO:0045006)6.05079495
2ribosomal small subunit assembly (GO:0000028)5.26645968
3chaperone-mediated protein transport (GO:0072321)4.88744601
4maturation of SSU-rRNA (GO:0030490)4.56076971
5DNA strand elongation involved in DNA replication (GO:0006271)4.40196416
6viral transcription (GO:0019083)4.29635601
7telomere maintenance via semi-conservative replication (GO:0032201)4.28469786
8proteasome assembly (GO:0043248)4.23840273
9translational termination (GO:0006415)4.23281003
10nucleobase biosynthetic process (GO:0046112)4.23019252
11formation of translation preinitiation complex (GO:0001731)4.21042634
12establishment of protein localization to mitochondrial membrane (GO:0090151)4.19538193
13DNA strand elongation (GO:0022616)4.19406705
14DNA replication initiation (GO:0006270)4.17493344
15ribosomal large subunit biogenesis (GO:0042273)4.14479902
16ribosomal small subunit biogenesis (GO:0042274)4.12248414
17purine nucleobase biosynthetic process (GO:0009113)4.06768796
18* translational elongation (GO:0006414)4.01177289
19ribonucleoprotein complex biogenesis (GO:0022613)3.87969606
20protein targeting to mitochondrion (GO:0006626)3.84372348
21SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.83582763
22respiratory electron transport chain (GO:0022904)3.83294218
23negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.82193079
24mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.80897893
25pseudouridine synthesis (GO:0001522)3.78966525
26ribosome biogenesis (GO:0042254)3.77277759
27electron transport chain (GO:0022900)3.73827514
28folic acid-containing compound biosynthetic process (GO:0009396)3.73037142
29translational initiation (GO:0006413)3.72383248
30deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.72116765
31cotranslational protein targeting to membrane (GO:0006613)3.71665980
32telomere maintenance via recombination (GO:0000722)3.70890056
33DNA replication checkpoint (GO:0000076)3.69921518
34protein targeting to ER (GO:0045047)3.69750250
35rRNA methylation (GO:0031167)3.67754069
36CENP-A containing nucleosome assembly (GO:0034080)3.64031829
37cullin deneddylation (GO:0010388)3.62655446
38regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.62121934
39positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.61798426
40anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.61597763
41protein deneddylation (GO:0000338)3.59941416
42chromatin remodeling at centromere (GO:0031055)3.59648001
43regulation of mitochondrial translation (GO:0070129)3.57961229
44translation (GO:0006412)3.56791730
45oxidative phosphorylation (GO:0006119)3.56598025
46transcription from mitochondrial promoter (GO:0006390)3.55035309
47spliceosomal snRNP assembly (GO:0000387)3.54491067
48IMP biosynthetic process (GO:0006188)3.54062724
49mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.52426843
50protein localization to endoplasmic reticulum (GO:0070972)3.50487140
51establishment of protein localization to mitochondrion (GO:0072655)3.50299671
52rRNA processing (GO:0006364)3.49734545
53establishment of protein localization to endoplasmic reticulum (GO:0072599)3.47464640
54DNA unwinding involved in DNA replication (GO:0006268)3.46056769
55negative regulation of ligase activity (GO:0051352)3.44145249
56negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.44145249
57telomere maintenance via telomere lengthening (GO:0010833)3.43205308
58protein localization to mitochondrion (GO:0070585)3.43103236
59termination of RNA polymerase III transcription (GO:0006386)3.42501657
60transcription elongation from RNA polymerase III promoter (GO:0006385)3.42501657
61mitochondrial respiratory chain complex assembly (GO:0033108)3.40543652
62nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.38886311
63cellular protein complex disassembly (GO:0043624)3.38435525
64DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.36119974
65rRNA modification (GO:0000154)3.35506232
66nucleobase-containing small molecule interconversion (GO:0015949)3.35355169
67viral life cycle (GO:0019058)3.35250384
68mitotic recombination (GO:0006312)3.35036266
69rRNA metabolic process (GO:0016072)3.34501246
70cellular component biogenesis (GO:0044085)3.32636057
71respiratory chain complex IV assembly (GO:0008535)3.31181278
72ATP synthesis coupled proton transport (GO:0015986)3.31052945
73energy coupled proton transport, down electrochemical gradient (GO:0015985)3.31052945
74mitochondrial RNA metabolic process (GO:0000959)3.30904697
75signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.30682157
76intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.30682157
77protein complex biogenesis (GO:0070271)3.30017185
78establishment of integrated proviral latency (GO:0075713)3.29907005
79signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.29827546
80signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.29827546
81signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.29827546
82mitotic metaphase plate congression (GO:0007080)3.28320787
83regulation of cellular amino acid metabolic process (GO:0006521)3.26827264
84establishment of viral latency (GO:0019043)3.22655118
85signal transduction involved in DNA damage checkpoint (GO:0072422)3.22087905
86signal transduction involved in DNA integrity checkpoint (GO:0072401)3.22087905
87regulation of ubiquitin-protein transferase activity (GO:0051438)3.21271331
88transcription-coupled nucleotide-excision repair (GO:0006283)3.20513167
89mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.20464674
90mitochondrial respiratory chain complex I assembly (GO:0032981)3.20464674
91NADH dehydrogenase complex assembly (GO:0010257)3.20464674
92positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.18973675
93tRNA methylation (GO:0030488)3.18967420
94signal transduction involved in cell cycle checkpoint (GO:0072395)3.18949647
95deoxyribonucleotide biosynthetic process (GO:0009263)3.14780787
96metaphase plate congression (GO:0051310)3.14677338
97exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.14512795
98ribosome assembly (GO:0042255)3.13958842
99pteridine-containing compound biosynthetic process (GO:0042559)3.12556991
100regulation of ligase activity (GO:0051340)3.09928751
101histone exchange (GO:0043486)3.09893510
102nucleotide-excision repair, DNA gap filling (GO:0006297)3.09135317
103maturation of 5.8S rRNA (GO:0000460)3.08153302
104DNA damage response, detection of DNA damage (GO:0042769)3.07888412
105IMP metabolic process (GO:0046040)3.07731871
106DNA replication-independent nucleosome assembly (GO:0006336)3.07081942
107DNA replication-independent nucleosome organization (GO:0034724)3.07081942
108positive regulation of ligase activity (GO:0051351)3.06885442
109L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.06835702
110kinetochore assembly (GO:0051382)3.06671451
111cytochrome complex assembly (GO:0017004)3.06519523
112DNA catabolic process, exonucleolytic (GO:0000738)3.04981241
113antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.04913728
114cell cycle G1/S phase transition (GO:0044843)3.04033363
115G1/S transition of mitotic cell cycle (GO:0000082)3.04033363
116kinetochore organization (GO:0051383)3.01735277
117protein complex disassembly (GO:0043241)3.01311739
118folic acid metabolic process (GO:0046655)3.01223436
119nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.00754731
120viral mRNA export from host cell nucleus (GO:0046784)2.99709454
1212-deoxyribonucleotide biosynthetic process (GO:0009265)2.97803639
122deoxyribose phosphate biosynthetic process (GO:0046385)2.97803639
123mitotic nuclear envelope disassembly (GO:0007077)2.95114626
124protein localization to kinetochore (GO:0034501)2.94661023
125spliceosomal complex assembly (GO:0000245)2.94402390
126DNA replication-dependent nucleosome assembly (GO:0006335)2.93970414
127DNA replication-dependent nucleosome organization (GO:0034723)2.93970414

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.45385847
2* MYC_18555785_ChIP-Seq_MESCs_Mouse4.55400785
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.17949860
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.83741855
5* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.52358102
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.47185247
7* EST1_17652178_ChIP-ChIP_JURKAT_Human3.36180741
8MYC_18358816_ChIP-ChIP_MESCs_Mouse3.18517882
9* ETS1_20019798_ChIP-Seq_JURKAT_Human3.16989949
10MYC_19079543_ChIP-ChIP_MESCs_Mouse2.97627389
11* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.95393350
12NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.90633771
13CREB1_15753290_ChIP-ChIP_HEK293T_Human2.89527632
14E2F4_17652178_ChIP-ChIP_JURKAT_Human2.84818747
15HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.77017040
16FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.72362085
17CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.49047543
18NELFA_20434984_ChIP-Seq_ESCs_Mouse2.48524264
19* XRN2_22483619_ChIP-Seq_HELA_Human2.46881909
20FOXM1_23109430_ChIP-Seq_U2OS_Human2.41913771
21* VDR_23849224_ChIP-Seq_CD4+_Human2.39675150
22* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.38880374
23DCP1A_22483619_ChIP-Seq_HELA_Human2.34819889
24ELF1_17652178_ChIP-ChIP_JURKAT_Human2.31126245
25* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.29622489
26THAP11_20581084_ChIP-Seq_MESCs_Mouse2.13377566
27GABP_19822575_ChIP-Seq_HepG2_Human2.11358630
28* FOXP3_21729870_ChIP-Seq_TREG_Human2.07717269
29* SRF_21415370_ChIP-Seq_HL-1_Mouse2.03179713
30SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.01929760
31YY1_21170310_ChIP-Seq_MESCs_Mouse1.99578407
32TTF2_22483619_ChIP-Seq_HELA_Human1.95944654
33SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.83641179
34MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.79558133
35PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.79256107
36POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.78650647
37ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.73831328
38MYCN_18555785_ChIP-Seq_MESCs_Mouse1.72673482
39TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.71443340
40CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.70189321
41* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.70036246
42ELK1_19687146_ChIP-ChIP_HELA_Human1.68360981
43NANOG_18555785_ChIP-Seq_MESCs_Mouse1.67203520
44ZFX_18555785_ChIP-Seq_MESCs_Mouse1.64927527
45PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.60654783
46MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.59261135
47ZNF263_19887448_ChIP-Seq_K562_Human1.58999555
48YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.58480421
49E2F1_21310950_ChIP-Seq_MCF-7_Human1.58343223
50HOXB4_20404135_ChIP-ChIP_EML_Mouse1.58291081
51AR_21909140_ChIP-Seq_LNCAP_Human1.58238005
52FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.56916142
53CIITA_25753668_ChIP-Seq_RAJI_Human1.50160668
54E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.48375089
55CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.43226610
56STAT3_1855785_ChIP-Seq_MESCs_Mouse1.40770686
57POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.40140564
58TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.36790986
59KDM5A_27292631_Chip-Seq_BREAST_Human1.33752931
60ERG_20887958_ChIP-Seq_HPC-7_Mouse1.32454653
61SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.30316972
62* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.29944213
63BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.27964600
64RBPJ_22232070_ChIP-Seq_NCS_Mouse1.25548811
65POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.25045285
66NOTCH1_21737748_ChIP-Seq_TLL_Human1.21835805
67MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.19402325
68ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.18457280
69ESR1_15608294_ChIP-ChIP_MCF-7_Human1.16508102
70ELK1_22589737_ChIP-Seq_MCF10A_Human1.13624726
71KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.10069957
72MYC_22102868_ChIP-Seq_BL_Human1.09644370
73* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.08766640
74CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.08480992
75KLF4_18555785_ChIP-Seq_MESCs_Mouse1.07941481
76TFEB_21752829_ChIP-Seq_HELA_Human1.05990038
77ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.05513463
78HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.05193876
79DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.04656775
80E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.03189119
81SOX2_18555785_ChIP-Seq_MESCs_Mouse1.02824733
82KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.02710293
83MYC_18940864_ChIP-ChIP_HL60_Human1.01637593
84SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.00365341
85CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.97232419
86ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.96973451
87GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.96852058
88CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.95511415
89SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.95085919
90CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.95003443
91DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.94258831
92CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.93488822
93CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.93007046
94KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.91569759
95SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.91445584
96TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.91383458
97HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.91180659
98SOX17_20123909_ChIP-Seq_XEN_Mouse0.91129842
99PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.87338924
100OCT4_18692474_ChIP-Seq_MEFs_Mouse0.87260867
101TBX5_21415370_ChIP-Seq_HL-1_Mouse0.85113556
102SOX2_18692474_ChIP-Seq_MEFs_Mouse0.84629370
103SPI1_23547873_ChIP-Seq_NB4_Human0.83852364
104EGR1_19374776_ChIP-ChIP_THP-1_Human0.82863987
105TP63_19390658_ChIP-ChIP_HaCaT_Human0.81245189
106* CTCF_18555785_ChIP-Seq_MESCs_Mouse0.81038036
107* FOXP1_21924763_ChIP-Seq_HESCs_Human0.79720875
108TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.79625297
109PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.78567772
110CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.77802872
111SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.76733137
112FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.75418160

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.60406970
2MP0004957_abnormal_blastocyst_morpholog4.22208082
3MP0010094_abnormal_chromosome_stability4.08531114
4MP0003111_abnormal_nucleus_morphology4.00245880
5MP0003077_abnormal_cell_cycle3.68247997
6MP0008057_abnormal_DNA_replication3.16366481
7MP0008058_abnormal_DNA_repair3.12389354
8MP0003806_abnormal_nucleotide_metabolis2.91939600
9MP0008007_abnormal_cellular_replicative2.80449985
10MP0008932_abnormal_embryonic_tissue2.59820019
11MP0003186_abnormal_redox_activity2.33039244
12MP0003123_paternal_imprinting2.31505467
13MP0006036_abnormal_mitochondrial_physio2.14618225
14MP0002132_abnormal_respiratory_system2.03232059
15MP0003786_premature_aging1.93269085
16MP0002396_abnormal_hematopoietic_system1.91266323
17MP0003718_maternal_effect1.87277465
18MP0000490_abnormal_crypts_of1.87237752
19MP0001730_embryonic_growth_arrest1.86165425
20MP0000350_abnormal_cell_proliferation1.82904566
21MP0004233_abnormal_muscle_weight1.64592204
22MP0009379_abnormal_foot_pigmentation1.63664508
23MP0006035_abnormal_mitochondrial_morpho1.60181076
24MP0000372_irregular_coat_pigmentation1.51981821
25MP0005501_abnormal_skin_physiology1.50431534
26MP0003941_abnormal_skin_development1.45773214
27MP0006292_abnormal_olfactory_placode1.44741802
28MP0005408_hypopigmentation1.44542775
29MP0001697_abnormal_embryo_size1.42240575
30MP0003646_muscle_fatigue1.42082710
31MP0009333_abnormal_splenocyte_physiolog1.42038105
32MP0010030_abnormal_orbit_morphology1.38570199
33MP0003567_abnormal_fetal_cardiomyocyte1.37620815
34MP0003221_abnormal_cardiomyocyte_apopto1.35914548
35MP0002080_prenatal_lethality1.35383559
36MP0005075_abnormal_melanosome_morpholog1.34018175
37MP0001672_abnormal_embryogenesis/_devel1.32727080
38MP0005380_embryogenesis_phenotype1.32727080
39MP0000313_abnormal_cell_death1.30999263
40MP0004147_increased_porphyrin_level1.26801081
41MP0010352_gastrointestinal_tract_polyps1.26580740
42MP0002019_abnormal_tumor_incidence1.25296634
43MP0008877_abnormal_DNA_methylation1.23668240
44MP0004084_abnormal_cardiac_muscle1.22802360
45MP0003984_embryonic_growth_retardation1.21815380
46MP0005397_hematopoietic_system_phenotyp1.21244685
47MP0001545_abnormal_hematopoietic_system1.21244685
48MP0004133_heterotaxia1.20589998
49MP0002088_abnormal_embryonic_growth/wei1.18982302
50MP0002796_impaired_skin_barrier1.14804421
51MP0000358_abnormal_cell_content/1.12780903
52MP0001881_abnormal_mammary_gland1.10199037
53MP0002877_abnormal_melanocyte_morpholog1.08092803
54MP0001929_abnormal_gametogenesis1.08052036
55MP0003315_abnormal_perineum_morphology1.07744971
56MP0000858_altered_metastatic_potential1.07414682
57MP0005084_abnormal_gallbladder_morpholo1.07307652
58MP0002085_abnormal_embryonic_tissue1.06839056
59MP0001764_abnormal_homeostasis1.05956979
60MP0000750_abnormal_muscle_regeneration1.05750270
61MP0006054_spinal_hemorrhage1.04349048
62MP0000749_muscle_degeneration1.03805538
63MP0001661_extended_life_span1.03451017
64MP0003763_abnormal_thymus_physiology1.03014891
65MP0002160_abnormal_reproductive_system1.02764398
66MP0005266_abnormal_metabolism1.02621135
67MP0004808_abnormal_hematopoietic_stem1.00228059
68MP0001529_abnormal_vocalization0.99649315
69MP0000678_abnormal_parathyroid_gland0.95911944
70MP0005332_abnormal_amino_acid0.94660425
71MP0002086_abnormal_extraembryonic_tissu0.94512236
72MP0002653_abnormal_ependyma_morphology0.94355619
73MP0010307_abnormal_tumor_latency0.92511762
74MP0004215_abnormal_myocardial_fiber0.89640663
75MP0004197_abnormal_fetal_growth/weight/0.89275130
76MP0005330_cardiomyopathy0.88313242
77MP0001346_abnormal_lacrimal_gland0.84924686
78MP0005395_other_phenotype0.83335635
79MP0003121_genomic_imprinting0.82615559
80MP0000015_abnormal_ear_pigmentation0.81588735
81MP0001727_abnormal_embryo_implantation0.81372060
82MP0002210_abnormal_sex_determination0.80983960
83MP0000689_abnormal_spleen_morphology0.80818664
84MP0001853_heart_inflammation0.80723523
85MP0002722_abnormal_immune_system0.80498268
86MP0002127_abnormal_cardiovascular_syste0.80399498
87MP0001119_abnormal_female_reproductive0.79937977
88MP0002084_abnormal_developmental_patter0.79569328
89MP0009697_abnormal_copulation0.79249897
90MP0005174_abnormal_tail_pigmentation0.78388155
91MP0005451_abnormal_body_composition0.77970244
92MP0005636_abnormal_mineral_homeostasis0.77686468
93MP0003119_abnormal_digestive_system0.77525342
94MP0002751_abnormal_autonomic_nervous0.77408919
95MP0000703_abnormal_thymus_morphology0.77230026
96MP0010234_abnormal_vibrissa_follicle0.76413289
97MP0002837_dystrophic_cardiac_calcinosis0.76075447
98MP0008789_abnormal_olfactory_epithelium0.75200565
99MP0005389_reproductive_system_phenotype0.72743896
100MP0002398_abnormal_bone_marrow0.72677474
101MP0001293_anophthalmia0.70010671
102MP0002269_muscular_atrophy0.69770912
103MP0001986_abnormal_taste_sensitivity0.68695362
104MP0000627_abnormal_mammary_gland0.68338142
105MP0001188_hyperpigmentation0.68110321
106MP0001145_abnormal_male_reproductive0.67053434
107MP0002429_abnormal_blood_cell0.66282087
108MP0002111_abnormal_tail_morphology0.65856007
109MP0003656_abnormal_erythrocyte_physiolo0.64919077
110MP0008873_increased_physiological_sensi0.64468199
111MP0005379_endocrine/exocrine_gland_phen0.64258344
112MP0000049_abnormal_middle_ear0.63507147
113MP0005083_abnormal_biliary_tract0.63064105
114MP0005384_cellular_phenotype0.62998913
115MP0005220_abnormal_exocrine_pancreas0.62542044
116MP0008875_abnormal_xenobiotic_pharmacok0.62507724
117MP0003699_abnormal_female_reproductive0.62430690
118MP0002095_abnormal_skin_pigmentation0.62045049
119MP0005319_abnormal_enzyme/_coenzyme0.61527586
120MP0009672_abnormal_birth_weight0.61402450
121MP0001186_pigmentation_phenotype0.61127508
122MP0003136_yellow_coat_color0.60749446
123MP0002102_abnormal_ear_morphology0.59772271
124MP0002161_abnormal_fertility/fecundity0.59716511
125MP0000566_synostosis0.59426904
126MP0002938_white_spotting0.58780634
127MP0008995_early_reproductive_senescence0.57559732
128MP0000477_abnormal_intestine_morphology0.57001479
129MP0002090_abnormal_vision0.56947915
130MP0000653_abnormal_sex_gland0.56610936
131MP0005385_cardiovascular_system_phenoty0.56471848
132MP0001544_abnormal_cardiovascular_syste0.56471848
133MP0002163_abnormal_gland_morphology0.55867890
134MP0004145_abnormal_muscle_electrophysio0.55315581
135MP0005410_abnormal_fertilization0.54339879

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of cells of the erythroid lineage (HP:0012130)4.29032653
2Abnormal number of erythroid precursors (HP:0012131)4.14866857
3Acute necrotizing encephalopathy (HP:0006965)4.13647523
4Reticulocytopenia (HP:0001896)4.12170256
5Abnormal mitochondria in muscle tissue (HP:0008316)4.02607016
6Birth length less than 3rd percentile (HP:0003561)4.00354691
7Increased CSF lactate (HP:0002490)3.83605180
8Hepatocellular necrosis (HP:0001404)3.81874930
9Hepatic necrosis (HP:0002605)3.78517719
10* Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.74275413
11* Decreased activity of mitochondrial respiratory chain (HP:0008972)3.74275413
12* Increased serum lactate (HP:0002151)3.72808127
13Mitochondrial inheritance (HP:0001427)3.70295669
14Oral leukoplakia (HP:0002745)3.53237593
15Acute encephalopathy (HP:0006846)3.46925908
16Aplastic anemia (HP:0001915)3.34667078
17Renal Fanconi syndrome (HP:0001994)3.34636372
18Progressive macrocephaly (HP:0004481)3.18817792
19Breast hypoplasia (HP:0003187)3.06799116
20Exercise intolerance (HP:0003546)3.04993932
213-Methylglutaconic aciduria (HP:0003535)2.99924023
22Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.98949595
23* Lactic acidosis (HP:0003128)2.98164914
24Increased serum pyruvate (HP:0003542)2.96834562
25Abnormality of glycolysis (HP:0004366)2.96834562
26Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.91638879
27Abnormality of alanine metabolism (HP:0010916)2.91638879
28Hyperalaninemia (HP:0003348)2.91638879
29Abnormality of the anterior horn cell (HP:0006802)2.90828433
30Degeneration of anterior horn cells (HP:0002398)2.90828433
31Macrocytic anemia (HP:0001972)2.90263410
32Carpal bone hypoplasia (HP:0001498)2.81884987
33Microvesicular hepatic steatosis (HP:0001414)2.78220642
34Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.76776656
35Pallor (HP:0000980)2.75623140
36Rough bone trabeculation (HP:0100670)2.72668010
37Increased hepatocellular lipid droplets (HP:0006565)2.69404879
38Abnormality of methionine metabolism (HP:0010901)2.68642712
39Microretrognathia (HP:0000308)2.67299358
40Lipid accumulation in hepatocytes (HP:0006561)2.66517606
41Patellar aplasia (HP:0006443)2.64516306
42Type I transferrin isoform profile (HP:0003642)2.63399648
43Cerebral edema (HP:0002181)2.62562383
4411 pairs of ribs (HP:0000878)2.60905824
45Increased intramyocellular lipid droplets (HP:0012240)2.58861404
46Exertional dyspnea (HP:0002875)2.56652654
47Selective tooth agenesis (HP:0001592)2.51091391
48Aplasia/Hypoplasia of the sacrum (HP:0008517)2.50498020
49Absent thumb (HP:0009777)2.49351441
50Methylmalonic acidemia (HP:0002912)2.49170963
51Methylmalonic aciduria (HP:0012120)2.48497927
52Aplasia/Hypoplasia of the patella (HP:0006498)2.48440242
53Gout (HP:0001997)2.48154598
54Cerebral hypomyelination (HP:0006808)2.46914214
55Leukodystrophy (HP:0002415)2.43675249
56Increased muscle lipid content (HP:0009058)2.43519864
57* Respiratory failure (HP:0002878)2.42423470
58Nausea (HP:0002018)2.41786468
59Chromsome breakage (HP:0040012)2.38352681
60Multiple enchondromatosis (HP:0005701)2.36825317
61Squamous cell carcinoma (HP:0002860)2.36141883
62Chromosomal breakage induced by crosslinking agents (HP:0003221)2.34745620
63Premature graying of hair (HP:0002216)2.34573151
64Testicular atrophy (HP:0000029)2.28595865
65Abnormality of serum amino acid levels (HP:0003112)2.28209332
66Trismus (HP:0000211)2.27188042
67Colon cancer (HP:0003003)2.26760843
68Hypokinesia (HP:0002375)2.25398859
69Ragged-red muscle fibers (HP:0003200)2.21793505
70Abnormality of the preputium (HP:0100587)2.20949338
71Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.16675989
72Abnormal protein N-linked glycosylation (HP:0012347)2.16675989
73Abnormal protein glycosylation (HP:0012346)2.16675989
74Abnormal glycosylation (HP:0012345)2.16675989
75Respiratory difficulties (HP:0002880)2.16402730
76Abnormality of placental membranes (HP:0011409)2.16075588
77Amniotic constriction ring (HP:0009775)2.16075588
78Pancytopenia (HP:0001876)2.14498133
79Progressive muscle weakness (HP:0003323)2.13171058
80Meckel diverticulum (HP:0002245)2.08884353
81Abnormal trabecular bone morphology (HP:0100671)2.08812919
82Cleft eyelid (HP:0000625)2.07693674
83Abnormality of aspartate family amino acid metabolism (HP:0010899)2.06993156
84Abnormality of pyrimidine metabolism (HP:0004353)2.06796014
85CNS demyelination (HP:0007305)2.04829647
86Postnatal microcephaly (HP:0005484)2.02589841
87Abnormality of the heme biosynthetic pathway (HP:0010472)2.00922445
88Lethargy (HP:0001254)1.98968755
89Abnormality of the ileum (HP:0001549)1.98906463
90Abnormality of chromosome stability (HP:0003220)1.98705470
91Bone marrow hypocellularity (HP:0005528)1.97288452
92Abnormalities of placenta or umbilical cord (HP:0001194)1.92304216
93Palpitations (HP:0001962)1.88141852
94Neoplasm of the pancreas (HP:0002894)1.87772665
95Reduced antithrombin III activity (HP:0001976)1.86928987
96Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.86382079
97Abnormality of aromatic amino acid family metabolism (HP:0004338)1.85457707
98Abnormality of renal resorption (HP:0011038)1.85401289
99Redundant skin (HP:0001582)1.84403635
100Irregular epiphyses (HP:0010582)1.83933751
101Abnormality of dicarboxylic acid metabolism (HP:0010995)1.83848793
102Dicarboxylic aciduria (HP:0003215)1.83848793
103Emotional lability (HP:0000712)1.83362418
104Abnormality of the umbilical cord (HP:0010881)1.82360750
105Thrombocytosis (HP:0001894)1.81801923
106Facial cleft (HP:0002006)1.81445183
107Sparse eyelashes (HP:0000653)1.81414676
108Abnormal lung lobation (HP:0002101)1.80430081
109Adenoma sebaceum (HP:0009720)1.79405810
110Angiofibromas (HP:0010615)1.79405810
111Horseshoe kidney (HP:0000085)1.78729260
112Premature ovarian failure (HP:0008209)1.78398235
113Hyperglycinuria (HP:0003108)1.77818887
114Cellular immunodeficiency (HP:0005374)1.77175178
115Generalized aminoaciduria (HP:0002909)1.76792311
116Hyperglycinemia (HP:0002154)1.76443674
117Secondary amenorrhea (HP:0000869)1.76220660
118Progressive external ophthalmoplegia (HP:0000590)1.76144348
119Megaloblastic anemia (HP:0001889)1.75649285
120Abnormality of reticulocytes (HP:0004312)1.74804738
121Hypoplasia of the pons (HP:0012110)1.74612037
122Myelodysplasia (HP:0002863)1.74603305
123Triphalangeal thumb (HP:0001199)1.74555459
124Glycosuria (HP:0003076)1.74118173
125Abnormality of urine glucose concentration (HP:0011016)1.74118173
126Optic disc pallor (HP:0000543)1.73860099
127Abnormal number of incisors (HP:0011064)1.71810713
128Aplasia/Hypoplasia of the uvula (HP:0010293)1.70961368

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.74914104
2VRK24.21153935
3EIF2AK13.85497235
4NME23.58257589
5WEE13.39505061
6STK163.21473227
7CDC72.49032133
8EIF2AK32.48465890
9TSSK62.33571982
10VRK12.32770869
11NEK12.30010818
12SRPK12.05334774
13PLK42.04013802
14PIM22.01419468
15ZAK1.98017538
16TESK21.92643499
17TLK11.90752318
18BCKDK1.86399240
19ACVR1B1.84925173
20NEK21.82874051
21RPS6KB21.63391580
22PLK11.60916045
23TTK1.58571632
24RPS6KA41.39745247
25MAP3K111.39367376
26KDR1.39128953
27BRSK21.39102177
28NUAK11.38854706
29AURKB1.36189177
30TESK11.35929640
31CDK71.32651177
32NME11.32468751
33TRIM281.32003320
34DYRK31.31995706
35ATR1.26842177
36EPHA21.26328866
37PASK1.26203930
38AURKA1.26152540
39PLK31.22955966
40CCNB11.15366638
41BRAF1.12763002
42TAF11.11833753
43STK38L1.08696427
44MAP3K121.08111000
45TGFBR11.01828447
46CDK81.00325337
47MKNK10.99538059
48MAPKAPK30.98994965
49EIF2AK20.96448624
50FLT30.95991418
51MAP3K80.95329114
52CHEK20.91683833
53STK100.88839922
54PAK40.88832463
55STK40.88765874
56TIE10.87095639
57MAP2K30.86959506
58OBSCN0.84422303
59PIM10.83269444
60BRSK10.81838764
61IRAK30.81117702
62MYLK0.79875068
63LIMK10.79247310
64CSNK2A10.78807922
65TAOK20.77286776
66DAPK10.75726853
67CDK40.74980887
68PBK0.72220436
69STK240.71951938
70SCYL20.71717893
71PDK30.70368845
72PDK40.70368845
73CSNK2A20.69753451
74MAP3K30.68185531
75SMG10.66977234
76PRKCI0.65691544
77NEK90.65590948
78PAK10.64838147
79PHKG20.63343600
80PHKG10.63343600
81MAP4K10.61979452
82CLK10.61492829
83MAP2K60.60985543
84ILK0.58554827
85ARAF0.57231015
86CHEK10.57164663
87YES10.54610735
88BMPR1B0.53188401
89CSNK1G30.52231650
90MST40.51255833
91MOS0.51153029
92TEC0.49077925
93CSNK1G10.49076095
94ALK0.48269121
95ERBB40.47805918
96MKNK20.47803418
97PKN20.47078526
98RPS6KA50.46643694
99DYRK20.46296251
100PDK20.46040655
101CSNK1E0.44050496
102ATM0.44006334
103CDK20.43803782
104ABL20.43631105
105AKT30.42808035
106LRRK20.41395863
107CDK10.41261697
108RAF10.40537439
109LATS20.40285719
110MST1R0.39980712
111AKT20.38821144
112MAP4K20.38434463
113MAP3K50.37827294
114CAMK2G0.35750554
115RPS6KC10.34802929
116RPS6KL10.34802929
117ZAP700.32186126
118TYK20.31531851
119RPS6KA60.31037077
120DAPK30.30804033
121ADRBK20.30704577
122BTK0.30682888
123IRAK40.29390214
124MAP3K90.28915307
125CDK11A0.28276222
126PRKDC0.28245657
127CDK180.27319499
128CDK90.26899006

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.37269077
2Ribosome_Homo sapiens_hsa030104.23571221
3Proteasome_Homo sapiens_hsa030503.98239031
4Mismatch repair_Homo sapiens_hsa034303.59036623
5RNA polymerase_Homo sapiens_hsa030203.31896135
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.11753023
7Spliceosome_Homo sapiens_hsa030402.80344235
8Base excision repair_Homo sapiens_hsa034102.71324718
9Homologous recombination_Homo sapiens_hsa034402.61200161
10Pyrimidine metabolism_Homo sapiens_hsa002402.59693136
11Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.50539517
12Nucleotide excision repair_Homo sapiens_hsa034202.49728680
13One carbon pool by folate_Homo sapiens_hsa006702.44500660
14RNA transport_Homo sapiens_hsa030132.39421925
15Parkinsons disease_Homo sapiens_hsa050122.28319701
16Oxidative phosphorylation_Homo sapiens_hsa001902.28147474
17Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.01308861
18Cell cycle_Homo sapiens_hsa041101.96659243
19Huntingtons disease_Homo sapiens_hsa050161.83481586
20RNA degradation_Homo sapiens_hsa030181.72384708
21Fanconi anemia pathway_Homo sapiens_hsa034601.69125307
22Folate biosynthesis_Homo sapiens_hsa007901.47911410
23Basal transcription factors_Homo sapiens_hsa030221.47297130
24Non-homologous end-joining_Homo sapiens_hsa034501.40956806
252-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.40803937
26Fatty acid elongation_Homo sapiens_hsa000621.40392921
27Sulfur relay system_Homo sapiens_hsa041221.39762437
28Purine metabolism_Homo sapiens_hsa002301.37847532
29Protein export_Homo sapiens_hsa030601.37155551
30Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.31620959
31Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.30054530
32p53 signaling pathway_Homo sapiens_hsa041151.27070737
33Alzheimers disease_Homo sapiens_hsa050101.20859878
34Cysteine and methionine metabolism_Homo sapiens_hsa002701.20096172
35Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.18642757
36Carbon metabolism_Homo sapiens_hsa012001.15114657
37Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.11368954
38Biosynthesis of amino acids_Homo sapiens_hsa012301.11165148
39Cyanoamino acid metabolism_Homo sapiens_hsa004601.01358324
40Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.96312415
41Epstein-Barr virus infection_Homo sapiens_hsa051690.94281875
42mRNA surveillance pathway_Homo sapiens_hsa030150.92852298
43Glutathione metabolism_Homo sapiens_hsa004800.92750264
44Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.91103454
45Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.90851875
46Pentose phosphate pathway_Homo sapiens_hsa000300.87273601
47Selenocompound metabolism_Homo sapiens_hsa004500.85465223
48Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.85148417
49Drug metabolism - other enzymes_Homo sapiens_hsa009830.85014445
50Steroid biosynthesis_Homo sapiens_hsa001000.83643839
51Pyruvate metabolism_Homo sapiens_hsa006200.77734394
52Cardiac muscle contraction_Homo sapiens_hsa042600.74447629
53Systemic lupus erythematosus_Homo sapiens_hsa053220.73154875
54Fructose and mannose metabolism_Homo sapiens_hsa000510.70732207
55Galactose metabolism_Homo sapiens_hsa000520.66255907
56Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.61193549
57Metabolic pathways_Homo sapiens_hsa011000.61107839
58Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.60371308
59Fatty acid metabolism_Homo sapiens_hsa012120.55169877
60Herpes simplex infection_Homo sapiens_hsa051680.55030718
61Legionellosis_Homo sapiens_hsa051340.53690914
62Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.52210770
63Collecting duct acid secretion_Homo sapiens_hsa049660.51716650
64Thyroid cancer_Homo sapiens_hsa052160.49875676
65Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.48987730
66Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.47645259
67Antigen processing and presentation_Homo sapiens_hsa046120.47459735
68Arginine and proline metabolism_Homo sapiens_hsa003300.47023472
69Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.41918817
70Primary bile acid biosynthesis_Homo sapiens_hsa001200.41364939
71Arginine biosynthesis_Homo sapiens_hsa002200.41207444
72Viral carcinogenesis_Homo sapiens_hsa052030.40842514
73Vitamin B6 metabolism_Homo sapiens_hsa007500.39048624
74Oocyte meiosis_Homo sapiens_hsa041140.38353357
75Phenylalanine metabolism_Homo sapiens_hsa003600.37986132
76Vibrio cholerae infection_Homo sapiens_hsa051100.37888057
77Arachidonic acid metabolism_Homo sapiens_hsa005900.37097148
78Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.37037286
79Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.37004517
80Peroxisome_Homo sapiens_hsa041460.36562053
81N-Glycan biosynthesis_Homo sapiens_hsa005100.36322558
82HTLV-I infection_Homo sapiens_hsa051660.35321602
83Propanoate metabolism_Homo sapiens_hsa006400.35067540
84Vitamin digestion and absorption_Homo sapiens_hsa049770.29381545
85Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.29031513
86Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.29008093
87Butanoate metabolism_Homo sapiens_hsa006500.26647327
88Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.25322852
89Fatty acid degradation_Homo sapiens_hsa000710.25310495
90Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.24352994
91Tyrosine metabolism_Homo sapiens_hsa003500.23502000
92Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.23291974
93Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.23291879
94Apoptosis_Homo sapiens_hsa042100.21421879
95Sulfur metabolism_Homo sapiens_hsa009200.19612241
96beta-Alanine metabolism_Homo sapiens_hsa004100.18210880
97Tryptophan metabolism_Homo sapiens_hsa003800.17362592
98Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.17111651
99Other glycan degradation_Homo sapiens_hsa005110.16365167
100Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.15599528
101Pentose and glucuronate interconversions_Homo sapiens_hsa000400.12717826
102Chemical carcinogenesis_Homo sapiens_hsa052040.12329219
103HIF-1 signaling pathway_Homo sapiens_hsa040660.10996863
104Primary immunodeficiency_Homo sapiens_hsa053400.10684229
105Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.10011672
106Shigellosis_Homo sapiens_hsa051310.09909971
107Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.09783085
108Measles_Homo sapiens_hsa051620.09400967
109Regulation of autophagy_Homo sapiens_hsa041400.09332657
110Alcoholism_Homo sapiens_hsa050340.08773344
111Linoleic acid metabolism_Homo sapiens_hsa005910.06766341
112Bladder cancer_Homo sapiens_hsa052190.05541674
113Caffeine metabolism_Homo sapiens_hsa002320.04897996
114RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.03902327
115Steroid hormone biosynthesis_Homo sapiens_hsa001400.02363626
116Mineral absorption_Homo sapiens_hsa049780.01927782
117Intestinal immune network for IgA production_Homo sapiens_hsa046720.01608695
118Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.01596754

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