EIF2S3

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: The protein encoded by this gene is the largest subunit of a heterotrimeric GTP-binding protein involved in the recruitment of methionyl-tRNA(i) to the 40 S ribosomal subunit. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1nuclear pore complex assembly (GO:0051292)5.03236999
2nuclear pore organization (GO:0006999)4.80656364
3ribosome assembly (GO:0042255)4.52207913
4proteasome assembly (GO:0043248)4.51164052
5chromatin remodeling at centromere (GO:0031055)4.47842535
6CENP-A containing nucleosome assembly (GO:0034080)4.38870827
7DNA double-strand break processing (GO:0000729)4.30990813
8histone exchange (GO:0043486)4.07847259
9DNA replication checkpoint (GO:0000076)4.06560302
10double-strand break repair via nonhomologous end joining (GO:0006303)3.99986872
11non-recombinational repair (GO:0000726)3.99986872
12mitotic sister chromatid cohesion (GO:0007064)3.98585828
13DNA strand elongation involved in DNA replication (GO:0006271)3.97462593
14negative regulation of DNA-dependent DNA replication (GO:2000104)3.94061108
15purine nucleobase biosynthetic process (GO:0009113)3.86833712
16mitotic nuclear envelope disassembly (GO:0007077)3.86749631
17telomere maintenance via semi-conservative replication (GO:0032201)3.75893529
18DNA strand elongation (GO:0022616)3.72713931
19regulation of centriole replication (GO:0046599)3.72135853
20pore complex assembly (GO:0046931)3.71627495
21mitotic metaphase plate congression (GO:0007080)3.70657241
22IMP biosynthetic process (GO:0006188)3.67661784
23regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.65644410
24nucleobase biosynthetic process (GO:0046112)3.62504294
25mitotic sister chromatid segregation (GO:0000070)3.60393584
26nuclear envelope disassembly (GO:0051081)3.55190468
27membrane disassembly (GO:0030397)3.55190468
28spindle checkpoint (GO:0031577)3.53812766
29mitotic recombination (GO:0006312)3.52512568
30formation of translation preinitiation complex (GO:0001731)3.52352090
31replication fork processing (GO:0031297)3.51800558
32DNA replication-dependent nucleosome organization (GO:0034723)3.51095681
33DNA replication-dependent nucleosome assembly (GO:0006335)3.51095681
34regulation of helicase activity (GO:0051095)3.48659329
35sister chromatid segregation (GO:0000819)3.48526914
36mitotic spindle checkpoint (GO:0071174)3.48445056
37metaphase plate congression (GO:0051310)3.48355285
38DNA catabolic process, exonucleolytic (GO:0000738)3.47673589
39protein localization to kinetochore (GO:0034501)3.47399435
40somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.46013263
41somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.46013263
42isotype switching (GO:0045190)3.46013263
43somatic hypermutation of immunoglobulin genes (GO:0016446)3.45150402
44somatic diversification of immune receptors via somatic mutation (GO:0002566)3.45150402
45regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.45147152
46regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.44961530
47regulation of mitotic spindle checkpoint (GO:1903504)3.44961530
48DNA replication-independent nucleosome organization (GO:0034724)3.44329672
49DNA replication-independent nucleosome assembly (GO:0006336)3.44329672
50establishment of integrated proviral latency (GO:0075713)3.43869486
51telomere maintenance via recombination (GO:0000722)3.42455668
52DNA strand renaturation (GO:0000733)3.40995567
53negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.39669177
54RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.37372501
55mitotic G2/M transition checkpoint (GO:0044818)3.31468112
56negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.27545314
57negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.27545314
58negative regulation of mitotic sister chromatid segregation (GO:0033048)3.27545314
59negative regulation of mitotic sister chromatid separation (GO:2000816)3.27545314
60negative regulation of sister chromatid segregation (GO:0033046)3.27545314
61negative regulation of chromosome segregation (GO:0051985)3.25650885
62response to X-ray (GO:0010165)3.23898014
63anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.22618964
64kinetochore organization (GO:0051383)3.21600501
65DNA replication initiation (GO:0006270)3.20793838
66positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.19792973
67IMP metabolic process (GO:0046040)3.17374278
68tRNA aminoacylation for protein translation (GO:0006418)3.16927688
69telomere maintenance via telomerase (GO:0007004)3.16770646
70regulation of chromosome segregation (GO:0051983)3.15281838
71regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.14979158
72regulation of mitotic metaphase/anaphase transition (GO:0030071)3.14979158
73amino acid activation (GO:0043038)3.12778294
74tRNA aminoacylation (GO:0043039)3.12778294
75lactate metabolic process (GO:0006089)3.11259694
76synapsis (GO:0007129)3.10116109
77telomere maintenance via telomere lengthening (GO:0010833)3.09845362
78negative regulation of ligase activity (GO:0051352)3.09325191
79negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.09325191
80cullin deneddylation (GO:0010388)3.08732620
81mitotic spindle assembly checkpoint (GO:0007094)3.06457025
82maturation of 5.8S rRNA (GO:0000460)3.03564842
83regulation of sister chromatid segregation (GO:0033045)3.03484499
84regulation of mitotic sister chromatid separation (GO:0010965)3.03484499
85regulation of mitotic sister chromatid segregation (GO:0033047)3.03484499
86somatic recombination of immunoglobulin gene segments (GO:0016447)3.03179598
87mitochondrial RNA metabolic process (GO:0000959)3.02934616
88signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.02079282
89signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.02079282
90signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.02079282
91spindle assembly checkpoint (GO:0071173)3.01508353
92maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.99711493
93DNA ligation (GO:0006266)2.99148867
94regulation of DNA endoreduplication (GO:0032875)2.97418633
95intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.97159097
96signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.97159097
97RNA-dependent DNA replication (GO:0006278)2.94775911
98transcription from mitochondrial promoter (GO:0006390)2.93898421
99DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.92977682
100negative regulation of mRNA metabolic process (GO:1903312)2.92848984

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.86557145
2* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.29159513
3E2F4_17652178_ChIP-ChIP_JURKAT_Human4.28244670
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.40048768
5* EST1_17652178_ChIP-ChIP_JURKAT_Human3.19975294
6FOXM1_23109430_ChIP-Seq_U2OS_Human3.03913090
7SALL1_21062744_ChIP-ChIP_HESCs_Human3.02133075
8MYC_18555785_ChIP-Seq_MESCs_Mouse2.94772530
9ELK1_19687146_ChIP-ChIP_HELA_Human2.87871574
10FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.85350368
11KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.72613928
12AR_21909140_ChIP-Seq_LNCAP_Human2.61625884
13* CREB1_15753290_ChIP-ChIP_HEK293T_Human2.58770630
14E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.55450600
15MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.42327413
16CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.35993621
17PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.28353132
18MYC_19030024_ChIP-ChIP_MESCs_Mouse2.27834913
19VDR_23849224_ChIP-Seq_CD4+_Human2.13665369
20JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.13318334
21PADI4_21655091_ChIP-ChIP_MCF-7_Human2.13256176
22ETS1_20019798_ChIP-Seq_JURKAT_Human2.11763410
23ELF1_17652178_ChIP-ChIP_JURKAT_Human2.01957659
24* FOXP3_21729870_ChIP-Seq_TREG_Human2.01905285
25FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.99543402
26MYC_19079543_ChIP-ChIP_MESCs_Mouse1.99279586
27E2F1_21310950_ChIP-Seq_MCF-7_Human1.95977622
28NELFA_20434984_ChIP-Seq_ESCs_Mouse1.93102577
29HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.90417558
30MYCN_18555785_ChIP-Seq_MESCs_Mouse1.87135900
31EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.86255769
32MYC_18358816_ChIP-ChIP_MESCs_Mouse1.83962447
33HOXB4_20404135_ChIP-ChIP_EML_Mouse1.75784680
34YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.75059355
35PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.74575622
36EWS_26573619_Chip-Seq_HEK293_Human1.68562668
37DCP1A_22483619_ChIP-Seq_HELA_Human1.66390199
38E2F1_18555785_ChIP-Seq_MESCs_Mouse1.65427947
39FUS_26573619_Chip-Seq_HEK293_Human1.61061802
40NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.55778586
41HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.53294326
42MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.50865174
43FLI1_27457419_Chip-Seq_LIVER_Mouse1.50006387
44MYC_18940864_ChIP-ChIP_HL60_Human1.44688687
45TTF2_22483619_ChIP-Seq_HELA_Human1.42333201
46SRF_21415370_ChIP-Seq_HL-1_Mouse1.42183341
47VDR_22108803_ChIP-Seq_LS180_Human1.38788047
48GABP_19822575_ChIP-Seq_HepG2_Human1.35476040
49POU3F2_20337985_ChIP-ChIP_501MEL_Human1.32965827
50ZNF274_21170338_ChIP-Seq_K562_Hela1.32383297
51NANOG_16153702_ChIP-ChIP_HESCs_Human1.31224367
52HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.29909806
53POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.29639486
54ZFX_18555785_ChIP-Seq_MESCs_Mouse1.28566853
55POU5F1_16153702_ChIP-ChIP_HESCs_Human1.28150599
56THAP11_20581084_ChIP-Seq_MESCs_Mouse1.24813977
57SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.24087987
58ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.19697266
59CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.18548250
60NOTCH1_21737748_ChIP-Seq_TLL_Human1.13704165
61RBPJ_22232070_ChIP-Seq_NCS_Mouse1.12652301
62XRN2_22483619_ChIP-Seq_HELA_Human1.10508681
63ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.07281811
64MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.04985230
65KDM5A_27292631_Chip-Seq_BREAST_Human1.04394098
66SOX17_20123909_ChIP-Seq_XEN_Mouse1.02043099
67POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.99930512
68PCGF2_27294783_Chip-Seq_ESCs_Mouse0.99605570
69E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.97982243
70ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.97962735
71P300_19829295_ChIP-Seq_ESCs_Human0.97217541
72NANOG_18555785_ChIP-Seq_MESCs_Mouse0.96169202
73CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.95634612
74CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.94805428
75NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.94648915
76SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.93347413
77SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.92504625
78RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.91864300
79GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.91038012
80SOX2_16153702_ChIP-ChIP_HESCs_Human0.90881823
81TFEB_21752829_ChIP-Seq_HELA_Human0.88247569
82ERG_20887958_ChIP-Seq_HPC-7_Mouse0.85234523
83CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.84032178
84EZH2_27294783_Chip-Seq_NPCs_Mouse0.83388845
85PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.82850231
86CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.80953898
87IGF1R_20145208_ChIP-Seq_DFB_Human0.79582359
88TP63_19390658_ChIP-ChIP_HaCaT_Human0.78134939
89ELF5_23300383_ChIP-Seq_T47D_Human0.77101985
90NFE2_27457419_Chip-Seq_LIVER_Mouse0.75854770
91NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.75733779
92SUZ12_27294783_Chip-Seq_NPCs_Mouse0.73966712
93NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.71986858
94WT1_19549856_ChIP-ChIP_CCG9911_Human0.71586723
95* SALL4_22934838_ChIP-ChIP_CD34+_Human0.70173869
96FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.68552333
97AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.68482139
98FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.66342561
99TAF15_26573619_Chip-Seq_HEK293_Human0.65722928
100SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.64521260

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability4.62395347
2MP0008057_abnormal_DNA_replication4.45350804
3MP0008058_abnormal_DNA_repair3.96502034
4MP0004957_abnormal_blastocyst_morpholog3.89189645
5MP0003693_abnormal_embryo_hatching3.65055815
6MP0003111_abnormal_nucleus_morphology3.57060201
7MP0003077_abnormal_cell_cycle3.00087292
8MP0008007_abnormal_cellular_replicative2.87150411
9MP0003941_abnormal_skin_development2.65972305
10MP0003786_premature_aging2.52087100
11MP0003890_abnormal_embryonic-extraembry2.51993809
12MP0008932_abnormal_embryonic_tissue2.48203554
13MP0009697_abnormal_copulation2.31198550
14MP0000372_irregular_coat_pigmentation2.29674916
15MP0002102_abnormal_ear_morphology2.21490631
16MP0010234_abnormal_vibrissa_follicle2.08253501
17MP0008877_abnormal_DNA_methylation2.05084534
18MP0003718_maternal_effect2.02475951
19MP0002938_white_spotting1.84774929
20MP0010352_gastrointestinal_tract_polyps1.81322736
21MP0006054_spinal_hemorrhage1.71861080
22MP0010307_abnormal_tumor_latency1.71304193
23MP0002396_abnormal_hematopoietic_system1.66113201
24MP0002254_reproductive_system_inflammat1.63365521
25MP0001730_embryonic_growth_arrest1.62046691
26MP0001697_abnormal_embryo_size1.61807111
27MP0005380_embryogenesis_phenotype1.60667706
28MP0001672_abnormal_embryogenesis/_devel1.60667706
29MP0003806_abnormal_nucleotide_metabolis1.58995014
30MP0003937_abnormal_limbs/digits/tail_de1.58242428
31MP0001293_anophthalmia1.53374352
32MP0000516_abnormal_urinary_system1.52900114
33MP0005367_renal/urinary_system_phenotyp1.52900114
34MP0000350_abnormal_cell_proliferation1.50197087
35MP0003567_abnormal_fetal_cardiomyocyte1.50008297
36MP0005075_abnormal_melanosome_morpholog1.48844974
37MP0002084_abnormal_developmental_patter1.48252649
38MP0001661_extended_life_span1.42619330
39MP0003984_embryonic_growth_retardation1.42011862
40MP0002088_abnormal_embryonic_growth/wei1.41958267
41MP0006035_abnormal_mitochondrial_morpho1.37324400
42MP0005408_hypopigmentation1.35899077
43MP0000537_abnormal_urethra_morphology1.30617586
44MP0008995_early_reproductive_senescence1.26376300
45MP0002085_abnormal_embryonic_tissue1.25743932
46MP0003119_abnormal_digestive_system1.22748302
47MP0003186_abnormal_redox_activity1.22012050
48MP0003136_yellow_coat_color1.20861819
49MP0002080_prenatal_lethality1.20684995
50MP0006036_abnormal_mitochondrial_physio1.18741893
51MP0000358_abnormal_cell_content/1.13010066
52MP0010030_abnormal_orbit_morphology1.11714904
53MP0002086_abnormal_extraembryonic_tissu1.10960174
54MP0010678_abnormal_skin_adnexa1.08493131
55MP0009672_abnormal_birth_weight1.07058950
56MP0003195_calcinosis1.03499981
57MP0001929_abnormal_gametogenesis1.01694259
58MP0006292_abnormal_olfactory_placode1.00534507
59MP0000313_abnormal_cell_death0.98253554
60MP0001286_abnormal_eye_development0.97552139
61MP0000647_abnormal_sebaceous_gland0.97388287
62MP0009703_decreased_birth_body0.97283140
63MP0002090_abnormal_vision0.95786689
64MP0004264_abnormal_extraembryonic_tissu0.93737429
65MP0004197_abnormal_fetal_growth/weight/0.93194532
66MP0003950_abnormal_plasma_membrane0.92376063
67MP0004147_increased_porphyrin_level0.92284210
68MP0003943_abnormal_hepatobiliary_system0.91610216
69MP0002751_abnormal_autonomic_nervous0.88698855
70MP0002233_abnormal_nose_morphology0.87529811
71MP0003315_abnormal_perineum_morphology0.87162166
72MP0002009_preneoplasia0.87028587
73MP0001119_abnormal_female_reproductive0.86206419
74MP0005395_other_phenotype0.83477593
75MP0002019_abnormal_tumor_incidence0.83293419
76MP0002210_abnormal_sex_determination0.83201377
77MP0000653_abnormal_sex_gland0.82486909
78MP0001145_abnormal_male_reproductive0.82202384
79MP0006072_abnormal_retinal_apoptosis0.81948561
80MP0005220_abnormal_exocrine_pancreas0.81041063
81MP0005171_absent_coat_pigmentation0.80920298
82MP0005187_abnormal_penis_morphology0.80302859
83MP0002234_abnormal_pharynx_morphology0.79013930
84MP0002160_abnormal_reproductive_system0.78723819
85MP0000383_abnormal_hair_follicle0.74082690
86MP0002697_abnormal_eye_size0.73421593
87MP0000427_abnormal_hair_cycle0.72796234
88MP0002111_abnormal_tail_morphology0.72072903
89MP0000613_abnormal_salivary_gland0.66237601
90MP0002006_tumorigenesis0.65450675
91MP0001324_abnormal_eye_pigmentation0.63225298
92MP0003121_genomic_imprinting0.63085189
93MP0004133_heterotaxia0.60741047
94MP0003123_paternal_imprinting0.60637605
95MP0004215_abnormal_myocardial_fiber0.60500673
96MP0003755_abnormal_palate_morphology0.58256872
97MP0005384_cellular_phenotype0.58072719
98MP0001188_hyperpigmentation0.57390669
99MP0005174_abnormal_tail_pigmentation0.57070008
100MP0001764_abnormal_homeostasis0.57007546

Predicted human phenotypes

RankGene SetZ-score
1Chromosomal breakage induced by crosslinking agents (HP:0003221)4.50170936
2Chromsome breakage (HP:0040012)4.39536623
3Abnormality of chromosome stability (HP:0003220)4.10003578
4Meckel diverticulum (HP:0002245)3.58662930
5Abnormality of the preputium (HP:0100587)3.50028053
6Aplasia/Hypoplasia of the uvula (HP:0010293)3.44968879
7Abnormality of the ileum (HP:0001549)3.41853950
8Abnormality of methionine metabolism (HP:0010901)3.16813383
9Ependymoma (HP:0002888)3.15553189
10Duodenal stenosis (HP:0100867)3.12247126
11Small intestinal stenosis (HP:0012848)3.12247126
12Colon cancer (HP:0003003)3.11115674
13Abnormality of glycolysis (HP:0004366)3.07780371
14Abnormality of the duodenum (HP:0002246)2.93448224
15Neoplasm of the adrenal gland (HP:0100631)2.85674656
16Nephroblastoma (Wilms tumor) (HP:0002667)2.84937416
17Neoplasm of the adrenal cortex (HP:0100641)2.83669204
18Embryonal renal neoplasm (HP:0011794)2.79317054
19Abnormal lung lobation (HP:0002101)2.78718255
20Volvulus (HP:0002580)2.78422771
21Abnormality of the labia minora (HP:0012880)2.75425876
22Abnormal umbilical cord blood vessels (HP:0011403)2.72689343
23Single umbilical artery (HP:0001195)2.72689343
24Abnormality of the fetal cardiovascular system (HP:0010948)2.72689343
25Rhabdomyosarcoma (HP:0002859)2.72461006
26Intestinal atresia (HP:0011100)2.68331351
27Abnormality of aspartate family amino acid metabolism (HP:0010899)2.67798804
28Increased serum pyruvate (HP:0003542)2.66715901
29Pancreatic islet-cell hyperplasia (HP:0004510)2.64666866
30Glioma (HP:0009733)2.62159195
31Birth length less than 3rd percentile (HP:0003561)2.60963397
32Myelodysplasia (HP:0002863)2.52151269
33Abnormality of the astrocytes (HP:0100707)2.36430657
34Astrocytoma (HP:0009592)2.36430657
35Sloping forehead (HP:0000340)2.35828497
36Abnormality of the umbilical cord (HP:0010881)2.35737630
37Absent radius (HP:0003974)2.34203895
38Clubbing of toes (HP:0100760)2.31804243
39Breast carcinoma (HP:0003002)2.31323469
40Multiple enchondromatosis (HP:0005701)2.28787088
41Abnormality of serum amino acid levels (HP:0003112)2.27281382
42Methylmalonic acidemia (HP:0002912)2.24845682
43Hyperalaninemia (HP:0003348)2.22013724
44Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.22013724
45Abnormality of alanine metabolism (HP:0010916)2.22013724
46Horseshoe kidney (HP:0000085)2.18337138
47Bifid tongue (HP:0010297)2.18089080
48Abnormality of the parathyroid morphology (HP:0011766)2.16900342
49Aqueductal stenosis (HP:0002410)2.14956506
50Aplasia involving forearm bones (HP:0009822)2.13996583
51Absent forearm bone (HP:0003953)2.13996583
52Triphalangeal thumb (HP:0001199)2.12560687
53Type I transferrin isoform profile (HP:0003642)2.10991310
54Ectopic kidney (HP:0000086)2.03839452
55Gonadotropin excess (HP:0000837)2.03575416
56Abnormality of the carotid arteries (HP:0005344)2.03166696
57Anal stenosis (HP:0002025)1.97268186
58Hypoglycemic seizures (HP:0002173)1.97235142
59Neoplasm of the colon (HP:0100273)1.96645190
60Abnormality of homocysteine metabolism (HP:0010919)1.94779910
61Homocystinuria (HP:0002156)1.94779910
62Increased nuchal translucency (HP:0010880)1.91768306
63Increased CSF lactate (HP:0002490)1.91719585
64Ovarian neoplasm (HP:0100615)1.91485397
65Abnormality of endocrine pancreas physiology (HP:0012093)1.91240057
66Abnormality of the pancreatic islet cells (HP:0006476)1.91240057
67Medulloblastoma (HP:0002885)1.90267943
68Sensory axonal neuropathy (HP:0003390)1.89543849
69Hypoglycemic coma (HP:0001325)1.88451993
70Abnormalities of placenta or umbilical cord (HP:0001194)1.88370025
71Choanal atresia (HP:0000453)1.88302124
72Absent thumb (HP:0009777)1.85432429
73Hyperinsulinemic hypoglycemia (HP:0000825)1.84199414
74Reduced antithrombin III activity (HP:0001976)1.83060656
75Stenosis of the external auditory canal (HP:0000402)1.82700766
76Progressive inability to walk (HP:0002505)1.82286864
77Hypobetalipoproteinemia (HP:0003563)1.81872321
78Short middle phalanx of the 5th finger (HP:0004220)1.81503517
79Acute encephalopathy (HP:0006846)1.80974367
80Cutaneous melanoma (HP:0012056)1.79809567
81Increased serum lactate (HP:0002151)1.78608388
82Angiofibromas (HP:0010615)1.77343474
83Adenoma sebaceum (HP:0009720)1.77343474
84Dyschromatopsia (HP:0007641)1.76354192
85Cafe-au-lait spot (HP:0000957)1.75470394
86Abnormal protein glycosylation (HP:0012346)1.74070664
87Abnormal glycosylation (HP:0012345)1.74070664
88Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.74070664
89Abnormal protein N-linked glycosylation (HP:0012347)1.74070664
90Abnormality of the vitamin B12 metabolism (HP:0004341)1.72269552
91Abnormality of sulfur amino acid metabolism (HP:0004339)1.71701306
92Methylmalonic aciduria (HP:0012120)1.71092767
93Small hand (HP:0200055)1.71044033
94Microvesicular hepatic steatosis (HP:0001414)1.70425669
95Abnormality of the anterior horn cell (HP:0006802)1.69764626
96Degeneration of anterior horn cells (HP:0002398)1.69764626
97Anal atresia (HP:0002023)1.69695326
98Duplicated collecting system (HP:0000081)1.69577228
99Spastic diplegia (HP:0001264)1.67129808
100Squamous cell carcinoma (HP:0002860)1.64388058

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK33.46835866
2BUB13.44514218
3EIF2AK13.18704772
4TRIM283.14814386
5MKNK22.95748452
6PBK2.94952325
7PDK22.85555188
8TSSK62.79242288
9MKNK12.75631440
10TTK2.69914583
11NUAK12.67546643
12MST42.59607846
13PLK32.59322348
14NEK12.47920158
15CDC72.30277437
16ACVR1B2.24176147
17SRPK12.23271636
18WEE12.22729613
19BRSK22.20121514
20VRK22.13165394
21ZAK2.06585583
22BMPR1B2.04048857
23TAF12.03058234
24ERBB31.98284367
25PLK41.95016191
26TNIK1.79450043
27FRK1.69236286
28WNK31.57741092
29PLK21.43312288
30SIK31.43134593
31ERBB41.37617076
32EIF2AK21.34145454
33PLK11.30860808
34STK161.25539244
35VRK11.24539718
36TGFBR11.15407575
37ATR1.14371624
38PASK1.10589123
39STK31.10268989
40STK391.08711346
41CHEK20.96432752
42BRSK10.94899059
43BCR0.91867411
44OXSR10.88643845
45ATM0.84115944
46FGFR20.82350223
47STK38L0.81667363
48AURKB0.76873466
49NEK20.76549862
50MELK0.72754892
51FER0.72595837
52CHEK10.70609063
53FLT30.70484379
54CSNK1G10.68296097
55FGFR10.67728626
56GRK10.62474686
57SMG10.62212493
58ALK0.60423519
59MAPKAPK50.57988389
60RPS6KB20.55996158
61STK100.55589591
62NLK0.55365758
63CDK70.54865211
64BRD40.53534333
65PNCK0.52243684
66STK40.51896880
67MAP4K20.50163732
68NME10.48731077
69PAK40.48586183
70CCNB10.47772356
71CSNK1G30.47553543
72CDK60.42137810
73CSNK1A1L0.41820742
74CSNK2A10.39410224
75CLK10.38902032
76CSNK2A20.38335720
77PRKDC0.37351677
78CDK10.35839855
79RPS6KA40.34806108
80CSNK1G20.34623374
81STK240.34436276
82DAPK10.34024479
83LATS10.33838744
84MAP3K80.33132655
85AKT30.32682439
86CDK20.32360994
87CSNK1E0.31966546
88MAP3K120.31799132
89PRKCI0.31162737
90SCYL20.29502978
91NEK60.28994679
92INSRR0.27850742
93MST1R0.24853904
94PAK30.24082767
95NME20.21464089
96MARK30.20447418
97BMPR20.19072828
98CDK90.18877626
99RPS6KB10.18150323
100CDK30.17779272

Predicted pathways (KEGG)

RankGene SetZ-score
1Non-homologous end-joining_Homo sapiens_hsa034503.89737802
2Proteasome_Homo sapiens_hsa030503.76673770
3Mismatch repair_Homo sapiens_hsa034303.46245020
4DNA replication_Homo sapiens_hsa030303.39572468
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.30997231
6Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009703.09758132
7Homologous recombination_Homo sapiens_hsa034402.93194884
8Protein export_Homo sapiens_hsa030602.53742945
9* RNA transport_Homo sapiens_hsa030132.52342131
10One carbon pool by folate_Homo sapiens_hsa006702.42279811
11Fanconi anemia pathway_Homo sapiens_hsa034602.37791604
12Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.32703454
13Propanoate metabolism_Homo sapiens_hsa006402.27681742
14RNA degradation_Homo sapiens_hsa030182.14719364
15RNA polymerase_Homo sapiens_hsa030202.11372534
16Cell cycle_Homo sapiens_hsa041102.08005095
17Nucleotide excision repair_Homo sapiens_hsa034202.07368317
18Basal transcription factors_Homo sapiens_hsa030221.95298514
19Base excision repair_Homo sapiens_hsa034101.94446357
202-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.89182032
21Spliceosome_Homo sapiens_hsa030401.88583623
22Cysteine and methionine metabolism_Homo sapiens_hsa002701.84872395
23Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.82631520
24Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.75840870
25Pyruvate metabolism_Homo sapiens_hsa006201.73698555
26Vitamin B6 metabolism_Homo sapiens_hsa007501.72886600
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.65218501
28Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.53718336
29Selenocompound metabolism_Homo sapiens_hsa004501.49678550
30Pyrimidine metabolism_Homo sapiens_hsa002401.37133594
31Steroid biosynthesis_Homo sapiens_hsa001001.36717012
32Carbon metabolism_Homo sapiens_hsa012001.35231025
33Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.31622552
34Fatty acid elongation_Homo sapiens_hsa000621.29584298
35mRNA surveillance pathway_Homo sapiens_hsa030151.28162032
36Biosynthesis of amino acids_Homo sapiens_hsa012301.27893750
37Purine metabolism_Homo sapiens_hsa002301.19035449
38p53 signaling pathway_Homo sapiens_hsa041151.18781867
39Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.13356299
40Glutathione metabolism_Homo sapiens_hsa004801.03844874
41Oocyte meiosis_Homo sapiens_hsa041141.02452246
42Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.01373765
43Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.89214766
44Butanoate metabolism_Homo sapiens_hsa006500.82532765
45Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.81766435
46N-Glycan biosynthesis_Homo sapiens_hsa005100.76664205
47Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.76174780
48Pentose phosphate pathway_Homo sapiens_hsa000300.75625996
49Ribosome_Homo sapiens_hsa030100.71903811
50Nitrogen metabolism_Homo sapiens_hsa009100.70890090
51Fatty acid metabolism_Homo sapiens_hsa012120.70872544
52Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.69627151
53Caffeine metabolism_Homo sapiens_hsa002320.64405851
54Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.63215591
55TGF-beta signaling pathway_Homo sapiens_hsa043500.63040663
56Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.62463231
57Lysine degradation_Homo sapiens_hsa003100.61223316
58Parkinsons disease_Homo sapiens_hsa050120.60713241
59Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.60435520
60Peroxisome_Homo sapiens_hsa041460.60112199
61Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.58616471
62Metabolic pathways_Homo sapiens_hsa011000.53994315
63Fatty acid degradation_Homo sapiens_hsa000710.53791298
64Vitamin digestion and absorption_Homo sapiens_hsa049770.51248670
65Oxidative phosphorylation_Homo sapiens_hsa001900.48453659
66Pentose and glucuronate interconversions_Homo sapiens_hsa000400.46352451
67Huntingtons disease_Homo sapiens_hsa050160.46224062
68beta-Alanine metabolism_Homo sapiens_hsa004100.45900889
69Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.41504640
70Tryptophan metabolism_Homo sapiens_hsa003800.40192048
71Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.39768036
72Thyroid cancer_Homo sapiens_hsa052160.38402542
73Legionellosis_Homo sapiens_hsa051340.37369725
74Sulfur metabolism_Homo sapiens_hsa009200.36932896
75Wnt signaling pathway_Homo sapiens_hsa043100.36221257
76Hippo signaling pathway_Homo sapiens_hsa043900.34875086
77Epstein-Barr virus infection_Homo sapiens_hsa051690.33619208
78Maturity onset diabetes of the young_Homo sapiens_hsa049500.32684869
79Fat digestion and absorption_Homo sapiens_hsa049750.32353273
80Arginine and proline metabolism_Homo sapiens_hsa003300.30401719
81Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.30111170
82Primary bile acid biosynthesis_Homo sapiens_hsa001200.29064540
83Adherens junction_Homo sapiens_hsa045200.26379574
84Basal cell carcinoma_Homo sapiens_hsa052170.26333503
85Drug metabolism - other enzymes_Homo sapiens_hsa009830.25838579
86Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.25793904
87Folate biosynthesis_Homo sapiens_hsa007900.25723067
88Hedgehog signaling pathway_Homo sapiens_hsa043400.24597595
89Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.21766572
90Phototransduction_Homo sapiens_hsa047440.21376876
91Arginine biosynthesis_Homo sapiens_hsa002200.21292325
92Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.20726376
93Tight junction_Homo sapiens_hsa045300.18577204
94Ether lipid metabolism_Homo sapiens_hsa005650.17991403
95Galactose metabolism_Homo sapiens_hsa000520.15095675
96Retinol metabolism_Homo sapiens_hsa008300.14103325
97Central carbon metabolism in cancer_Homo sapiens_hsa052300.13543098
98Prostate cancer_Homo sapiens_hsa052150.11938370
99Herpes simplex infection_Homo sapiens_hsa051680.11518906
100Alzheimers disease_Homo sapiens_hsa050100.09686184

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