EEF1A1P2

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA deamination (GO:0045006)5.33358551
2establishment of protein localization to mitochondrial membrane (GO:0090151)5.29806241
3energy coupled proton transport, down electrochemical gradient (GO:0015985)5.07707512
4ATP synthesis coupled proton transport (GO:0015986)5.07707512
5rRNA modification (GO:0000154)5.03957503
6mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.00925204
7proteasome assembly (GO:0043248)4.21137802
8nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)4.20083072
9rRNA methylation (GO:0031167)4.19100121
10exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 4.18934145
11water-soluble vitamin biosynthetic process (GO:0042364)4.18018958
12maturation of 5.8S rRNA (GO:0000460)4.07101122
13tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.94100125
14RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.94100125
15mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.90108805
16protein neddylation (GO:0045116)3.87745400
17cullin deneddylation (GO:0010388)3.73492251
18termination of RNA polymerase III transcription (GO:0006386)3.69503589
19transcription elongation from RNA polymerase III promoter (GO:0006385)3.69503589
20protein deneddylation (GO:0000338)3.59327622
21ribosomal large subunit biogenesis (GO:0042273)3.58375799
22chaperone-mediated protein transport (GO:0072321)3.53755615
23regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.46973047
24inner mitochondrial membrane organization (GO:0007007)3.46408971
25protein complex biogenesis (GO:0070271)3.43780564
26negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.43727625
27regulation of cellular amino acid metabolic process (GO:0006521)3.38811144
28electron transport chain (GO:0022900)3.38441588
29ribosomal small subunit assembly (GO:0000028)3.38179015
30mitochondrial respiratory chain complex I assembly (GO:0032981)3.37651792
31NADH dehydrogenase complex assembly (GO:0010257)3.37651792
32mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.37651792
33DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.36893380
34respiratory electron transport chain (GO:0022904)3.35267037
35behavioral response to nicotine (GO:0035095)3.33903393
36respiratory chain complex IV assembly (GO:0008535)3.31288765
37signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.30033407
38signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.30033407
39signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.30033407
40protein-cofactor linkage (GO:0018065)3.29670256
41mitochondrial respiratory chain complex assembly (GO:0033108)3.28499291
42viral transcription (GO:0019083)3.25853756
43GTP biosynthetic process (GO:0006183)3.25627540
44signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.25312990
45intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.25312990
46translational termination (GO:0006415)3.22094295
47positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.20975200
48SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.15976171
49cotranslational protein targeting to membrane (GO:0006613)3.12408696
50signal transduction involved in DNA damage checkpoint (GO:0072422)3.10097943
51signal transduction involved in DNA integrity checkpoint (GO:0072401)3.10097943
52regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.08783171
53protein targeting to ER (GO:0045047)3.07796591
54negative regulation of ligase activity (GO:0051352)3.05269574
55negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.05269574
56signal transduction involved in cell cycle checkpoint (GO:0072395)3.05180039
57translational elongation (GO:0006414)3.04517204
58purine nucleoside triphosphate biosynthetic process (GO:0009145)3.01506822
59maturation of SSU-rRNA (GO:0030490)2.97148929
60RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.96634131
61purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.95445812
62establishment of protein localization to endoplasmic reticulum (GO:0072599)2.94455640
63piRNA metabolic process (GO:0034587)2.92140582
64protein localization to endoplasmic reticulum (GO:0070972)2.90488940
65intracellular protein transmembrane import (GO:0044743)2.89792635
66ATP biosynthetic process (GO:0006754)2.85914740
67detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.83784982
68translation (GO:0006412)2.83677631
69fucose catabolic process (GO:0019317)2.83542489
70L-fucose metabolic process (GO:0042354)2.83542489
71L-fucose catabolic process (GO:0042355)2.83542489
72platelet dense granule organization (GO:0060155)2.83008911
73pseudouridine synthesis (GO:0001522)2.82922230
74anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.82849598
75mannosylation (GO:0097502)2.81988595
76regulation of mitotic spindle checkpoint (GO:1903504)2.78366203
77regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.78366203
78cytochrome complex assembly (GO:0017004)2.76942433
79tRNA processing (GO:0008033)2.76916151
80GMP metabolic process (GO:0046037)2.76627686
81ubiquinone metabolic process (GO:0006743)2.75847895
82rRNA metabolic process (GO:0016072)2.70350756
83rRNA processing (GO:0006364)2.70174651
84positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.70024090
85positive regulation of ligase activity (GO:0051351)2.69970634
86regulation of chronic inflammatory response (GO:0002676)2.68816028
87hydrogen ion transmembrane transport (GO:1902600)2.68605087
88translational initiation (GO:0006413)2.68512719
89UTP biosynthetic process (GO:0006228)2.68376103
90S-adenosylmethionine metabolic process (GO:0046500)2.67861670
91antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.66876455
92proton transport (GO:0015992)2.66407318
93somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.66236253
94somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.66236253
95isotype switching (GO:0045190)2.66236253
96response to pheromone (GO:0019236)2.63557732
97termination of RNA polymerase I transcription (GO:0006363)2.62655395
98rRNA catabolic process (GO:0016075)2.62482480
99transcription elongation from RNA polymerase I promoter (GO:0006362)2.60910739
100hydrogen transport (GO:0006818)2.59569865

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.55167597
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.35261607
3EST1_17652178_ChIP-ChIP_JURKAT_Human3.99343216
4SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.44440688
5ELF1_17652178_ChIP-ChIP_JURKAT_Human3.35965979
6E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.25405380
7VDR_22108803_ChIP-Seq_LS180_Human3.06362755
8HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.03374595
9ZNF274_21170338_ChIP-Seq_K562_Hela2.76057385
10JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.67104386
11VDR_23849224_ChIP-Seq_CD4+_Human2.66040646
12MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.50237593
13FLI1_27457419_Chip-Seq_LIVER_Mouse2.45538881
14ELK1_19687146_ChIP-ChIP_HELA_Human2.44847695
15ETS1_20019798_ChIP-Seq_JURKAT_Human2.32497849
16FOXP3_21729870_ChIP-Seq_TREG_Human2.17064513
17CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.10120026
18CREB1_15753290_ChIP-ChIP_HEK293T_Human2.08852279
19EWS_26573619_Chip-Seq_HEK293_Human2.06960150
20PCGF2_27294783_Chip-Seq_ESCs_Mouse2.04893502
21HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.99724510
22GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.97745415
23NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.95021126
24SRF_21415370_ChIP-Seq_HL-1_Mouse1.93082024
25E2F4_17652178_ChIP-ChIP_JURKAT_Human1.86514603
26FUS_26573619_Chip-Seq_HEK293_Human1.83574428
27TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.83276029
28MYC_18555785_ChIP-Seq_MESCs_Mouse1.80724001
29PADI4_21655091_ChIP-ChIP_MCF-7_Human1.73284989
30PCGF2_27294783_Chip-Seq_NPCs_Mouse1.64269012
31MYC_18940864_ChIP-ChIP_HL60_Human1.62736519
32IGF1R_20145208_ChIP-Seq_DFB_Human1.62622111
33ZFP57_27257070_Chip-Seq_ESCs_Mouse1.61250926
34NOTCH1_21737748_ChIP-Seq_TLL_Human1.59954372
35IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.55212696
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.46081471
37P300_19829295_ChIP-Seq_ESCs_Human1.45524554
38IRF1_19129219_ChIP-ChIP_H3396_Human1.45050691
39FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.43788800
40YY1_21170310_ChIP-Seq_MESCs_Mouse1.43291489
41CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.40803873
42POU3F2_20337985_ChIP-ChIP_501MEL_Human1.39084192
43FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.38018938
44CTBP2_25329375_ChIP-Seq_LNCAP_Human1.35604186
45PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.34368159
46EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.32862034
47SOX2_19829295_ChIP-Seq_ESCs_Human1.32584139
48NANOG_19829295_ChIP-Seq_ESCs_Human1.32584139
49TP53_22573176_ChIP-Seq_HFKS_Human1.32191031
50TTF2_22483619_ChIP-Seq_HELA_Human1.31932413
51IRF8_22096565_ChIP-ChIP_GC-B_Human1.31496310
52PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.31303027
53ER_23166858_ChIP-Seq_MCF-7_Human1.29467996
54TAF15_26573619_Chip-Seq_HEK293_Human1.28869706
55DCP1A_22483619_ChIP-Seq_HELA_Human1.28797713
56SUZ12_27294783_Chip-Seq_NPCs_Mouse1.27898919
57FOXA1_25329375_ChIP-Seq_VCAP_Human1.26444245
58FOXA1_27270436_Chip-Seq_PROSTATE_Human1.26444245
59MYC_18358816_ChIP-ChIP_MESCs_Mouse1.25373713
60NFE2_27457419_Chip-Seq_LIVER_Mouse1.25097872
61HOXB4_20404135_ChIP-ChIP_EML_Mouse1.24488551
62BCAT_22108803_ChIP-Seq_LS180_Human1.23625376
63MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.21752644
64GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.21404512
65POU5F1_16153702_ChIP-ChIP_HESCs_Human1.19568309
66IRF8_21731497_ChIP-ChIP_J774_Mouse1.18733167
67MYC_19030024_ChIP-ChIP_MESCs_Mouse1.15296541
68AR_20517297_ChIP-Seq_VCAP_Human1.13331734
69AUTS2_25519132_ChIP-Seq_293T-REX_Human1.12784182
70GATA3_26560356_Chip-Seq_TH2_Human1.10681931
71ELK1_22589737_ChIP-Seq_MCF10A_Human1.10266582
72IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.09459562
73EZH2_27294783_Chip-Seq_NPCs_Mouse1.07350617
74GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.07304796
75MYC_19079543_ChIP-ChIP_MESCs_Mouse1.04666745
76POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.03911684
77IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.00658518
78CBP_20019798_ChIP-Seq_JUKART_Human1.00658518
79EGR1_23403033_ChIP-Seq_LIVER_Mouse1.00616335
80FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.98928862
81HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.97904779
82GBX2_23144817_ChIP-Seq_PC3_Human0.97817549
83FOXA1_21572438_ChIP-Seq_LNCaP_Human0.96361604
84TCF4_22108803_ChIP-Seq_LS180_Human0.95619791
85CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.93080443
86ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.92949650
87UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.92037126
88HOXB7_26014856_ChIP-Seq_BT474_Human0.90272831
89GABP_19822575_ChIP-Seq_HepG2_Human0.89593437
90E2F1_18555785_ChIP-Seq_MESCs_Mouse0.89552066
91PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.89453538
92FOXH1_21741376_ChIP-Seq_EPCs_Human0.88804143
93FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.88593685
94KLF5_20875108_ChIP-Seq_MESCs_Mouse0.87130959
95NCOR_22424771_ChIP-Seq_293T_Human0.87005167
96ERG_20517297_ChIP-Seq_VCAP_Human0.86464842
97XRN2_22483619_ChIP-Seq_HELA_Human0.85674939
98GATA3_21878914_ChIP-Seq_MCF-7_Human0.85282312
99CRX_20693478_ChIP-Seq_RETINA_Mouse0.84183945
100MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.82188700

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000372_irregular_coat_pigmentation3.46973315
2MP0002102_abnormal_ear_morphology3.37112105
3MP0009379_abnormal_foot_pigmentation3.16219170
4MP0006072_abnormal_retinal_apoptosis2.84703581
5MP0008877_abnormal_DNA_methylation2.81455040
6MP0002138_abnormal_hepatobiliary_system2.63476719
7MP0003283_abnormal_digestive_organ2.58803400
8MP0005075_abnormal_melanosome_morpholog2.52574293
9MP0005084_abnormal_gallbladder_morpholo2.34894282
10MP0008058_abnormal_DNA_repair2.30186526
11MP0005671_abnormal_response_to2.22514492
12MP0004147_increased_porphyrin_level2.17643135
13MP0002938_white_spotting2.06671904
14MP0001835_abnormal_antigen_presentation2.03306751
15MP0002736_abnormal_nociception_after1.98945097
16MP0003136_yellow_coat_color1.97040226
17MP0000685_abnormal_immune_system1.83651990
18MP0006292_abnormal_olfactory_placode1.81988787
19MP0003011_delayed_dark_adaptation1.81601364
20MP0001968_abnormal_touch/_nociception1.81314026
21MP0000383_abnormal_hair_follicle1.73670003
22MP0004885_abnormal_endolymph1.68649955
23MP0003195_calcinosis1.66870701
24MP0005253_abnormal_eye_physiology1.59787992
25MP0003718_maternal_effect1.57023414
26MP0002006_tumorigenesis1.54032804
27MP0005645_abnormal_hypothalamus_physiol1.53415221
28MP0003806_abnormal_nucleotide_metabolis1.53367657
29MP0008872_abnormal_physiological_respon1.52050985
30MP0002638_abnormal_pupillary_reflex1.50625826
31MP0005551_abnormal_eye_electrophysiolog1.50077252
32MP0002148_abnormal_hypersensitivity_rea1.47274966
33MP0001986_abnormal_taste_sensitivity1.47141178
34MP0002751_abnormal_autonomic_nervous1.46766837
35MP0002837_dystrophic_cardiac_calcinosis1.44577433
36MP0002234_abnormal_pharynx_morphology1.44061233
37MP0008875_abnormal_xenobiotic_pharmacok1.43728361
38MP0005646_abnormal_pituitary_gland1.43705480
39MP0002277_abnormal_respiratory_mucosa1.43353361
40MP0002166_altered_tumor_susceptibility1.39130398
41MP0009785_altered_susceptibility_to1.36471669
42MP0001529_abnormal_vocalization1.32096650
43MP0001293_anophthalmia1.31662385
44MP0006035_abnormal_mitochondrial_morpho1.27264355
45MP0003786_premature_aging1.26548649
46MP0001501_abnormal_sleep_pattern1.24101051
47MP0002876_abnormal_thyroid_physiology1.20495951
48MP0003878_abnormal_ear_physiology1.18809660
49MP0005377_hearing/vestibular/ear_phenot1.18809660
50MP0004142_abnormal_muscle_tone1.17129432
51MP0002282_abnormal_trachea_morphology1.16767896
52MP0010094_abnormal_chromosome_stability1.15614349
53MP0003787_abnormal_imprinting1.14698277
54MP0005174_abnormal_tail_pigmentation1.14033912
55MP0006276_abnormal_autonomic_nervous1.09817606
56MP0009764_decreased_sensitivity_to1.08246918
57MP0003646_muscle_fatigue1.07846323
58MP0006036_abnormal_mitochondrial_physio1.07414522
59MP0003880_abnormal_central_pattern1.06873342
60MP0000631_abnormal_neuroendocrine_gland1.05464902
61MP0000566_synostosis1.04387802
62MP0004957_abnormal_blastocyst_morpholog1.01952625
63MP0003186_abnormal_redox_activity0.99720678
64MP0002095_abnormal_skin_pigmentation0.97272989
65MP0002272_abnormal_nervous_system0.96941762
66MP0001790_abnormal_immune_system0.96829195
67MP0005387_immune_system_phenotype0.96829195
68MP0001485_abnormal_pinna_reflex0.94060763
69MP0001984_abnormal_olfaction0.92763271
70MP0004145_abnormal_muscle_electrophysio0.92328905
71MP0003693_abnormal_embryo_hatching0.91055170
72MP0008995_early_reproductive_senescence0.90551313
73MP0001919_abnormal_reproductive_system0.88405381
74MP0001800_abnormal_humoral_immune0.87584474
75MP0000427_abnormal_hair_cycle0.87434253
76MP0005389_reproductive_system_phenotype0.84722306
77MP0008007_abnormal_cellular_replicative0.82037290
78MP0010678_abnormal_skin_adnexa0.81389702
79MP0008057_abnormal_DNA_replication0.79243271
80MP0005000_abnormal_immune_tolerance0.78689603
81MP0010386_abnormal_urinary_bladder0.76933633
82MP0000647_abnormal_sebaceous_gland0.76435564
83MP0003724_increased_susceptibility_to0.71951647
84MP0001929_abnormal_gametogenesis0.71932169
85MP0005636_abnormal_mineral_homeostasis0.71114116
86MP0000569_abnormal_digit_pigmentation0.70058101
87MP0005410_abnormal_fertilization0.69837431
88MP0001873_stomach_inflammation0.69548639
89MP0003866_abnormal_defecation0.69078224
90MP0002723_abnormal_immune_serum0.68817171
91MP0001905_abnormal_dopamine_level0.65743445
92MP0002210_abnormal_sex_determination0.65532540
93MP0009697_abnormal_copulation0.65057023
94MP0005167_abnormal_blood-brain_barrier0.63863165
95MP0004742_abnormal_vestibular_system0.62944726
96MP0000613_abnormal_salivary_gland0.62332235
97MP0005195_abnormal_posterior_eye0.62097671
98MP0000653_abnormal_sex_gland0.61696520
99MP0002452_abnormal_antigen_presenting0.61456188
100MP0001819_abnormal_immune_cell0.60535100

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.55008741
2Congenital, generalized hypertrichosis (HP:0004540)4.12269758
3Mitochondrial inheritance (HP:0001427)4.06130030
4Acute encephalopathy (HP:0006846)3.98959549
5Progressive macrocephaly (HP:0004481)3.93988526
6Increased CSF lactate (HP:0002490)3.89866321
7Increased hepatocellular lipid droplets (HP:0006565)3.83780321
8Abnormal mitochondria in muscle tissue (HP:0008316)3.69815292
9Lipid accumulation in hepatocytes (HP:0006561)3.50819473
10Congenital stationary night blindness (HP:0007642)3.47995467
11Hepatocellular necrosis (HP:0001404)3.47825966
12Pancreatic cysts (HP:0001737)3.14912241
13Hepatic necrosis (HP:0002605)3.05157291
143-Methylglutaconic aciduria (HP:0003535)3.03503314
15Type II lissencephaly (HP:0007260)2.93366036
16True hermaphroditism (HP:0010459)2.91023519
17IgG deficiency (HP:0004315)2.90367429
18Abnormality of midbrain morphology (HP:0002418)2.84892966
19Molar tooth sign on MRI (HP:0002419)2.84892966
20Abnormality of the pons (HP:0007361)2.82573108
21Hypoplasia of the pons (HP:0012110)2.81288563
22Renal Fanconi syndrome (HP:0001994)2.79116693
23Cerebral edema (HP:0002181)2.74343561
24Nephronophthisis (HP:0000090)2.73404746
25Stomatitis (HP:0010280)2.70068405
26Optic disc pallor (HP:0000543)2.69791601
27Pancreatic fibrosis (HP:0100732)2.67031130
28Increased serum lactate (HP:0002151)2.66134730
29Abnormality of the labia minora (HP:0012880)2.64580294
30Exertional dyspnea (HP:0002875)2.62705903
31Abolished electroretinogram (ERG) (HP:0000550)2.60458586
32Abnormal number of erythroid precursors (HP:0012131)2.57721884
33Methylmalonic acidemia (HP:0002912)2.50681226
34Decreased electroretinogram (ERG) amplitude (HP:0000654)2.47935105
35Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.43789930
36Attenuation of retinal blood vessels (HP:0007843)2.42405963
37Prostate neoplasm (HP:0100787)2.37788450
38Type I transferrin isoform profile (HP:0003642)2.34030442
39Reticulocytopenia (HP:0001896)2.33147485
40Abnormality of the prostate (HP:0008775)2.31583638
41Abnormality of the renal medulla (HP:0100957)2.29799753
42Lactic acidosis (HP:0003128)2.28575024
43Abnormality of cells of the erythroid lineage (HP:0012130)2.25459696
44Hypoproteinemia (HP:0003075)2.24106346
45Abnormality of the renal cortex (HP:0011035)2.23927380
46Type 2 muscle fiber atrophy (HP:0003554)2.21748899
47Leukodystrophy (HP:0002415)2.21409131
48Bilateral microphthalmos (HP:0007633)2.18707436
49Respiratory failure (HP:0002878)2.18359833
50Dynein arm defect of respiratory motile cilia (HP:0012255)2.12739192
51Absent/shortened dynein arms (HP:0200106)2.12739192
52Glycosuria (HP:0003076)2.11851885
53Abnormality of urine glucose concentration (HP:0011016)2.11851885
54Abnormality of aspartate family amino acid metabolism (HP:0010899)2.08791130
55Macrocytic anemia (HP:0001972)2.08319148
56Septo-optic dysplasia (HP:0100842)2.08048475
57Keratoconus (HP:0000563)2.05656450
58Increased corneal curvature (HP:0100692)2.05656450
59Abnormality of the phalanges of the 2nd finger (HP:0009541)1.98558782
60Methylmalonic aciduria (HP:0012120)1.98339028
61Cerebellar dysplasia (HP:0007033)1.95554861
62Polydipsia (HP:0001959)1.94305501
63Abnormal drinking behavior (HP:0030082)1.94305501
64Testicular atrophy (HP:0000029)1.94274907
65Pancytopenia (HP:0001876)1.93429528
66Stomach cancer (HP:0012126)1.93296204
67Sclerocornea (HP:0000647)1.92822091
68Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.92210052
69Aplasia/Hypoplasia involving the musculature (HP:0001460)1.90775643
70Renal cortical cysts (HP:0000803)1.90080467
71Lethargy (HP:0001254)1.89587658
72Hypomagnesemia (HP:0002917)1.86599229
73Aplasia/hypoplasia of the uterus (HP:0008684)1.86494036
74Respiratory difficulties (HP:0002880)1.86136226
75Dyschromatopsia (HP:0007641)1.85878109
76Abnormality of T cell physiology (HP:0011840)1.85128848
77Aplasia/Hypoplasia of the hallux (HP:0008362)1.85117499
78Abnormal rod and cone electroretinograms (HP:0008323)1.84765589
79Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.84512710
80Abnormal biliary tract physiology (HP:0012439)1.82876165
81Bile duct proliferation (HP:0001408)1.82876165
82Increased intramyocellular lipid droplets (HP:0012240)1.81990264
83Polyuria (HP:0000103)1.81888941
84Abnormal protein glycosylation (HP:0012346)1.79267762
85Abnormal glycosylation (HP:0012345)1.79267762
86Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.79267762
87Abnormal protein N-linked glycosylation (HP:0012347)1.79267762
88Pendular nystagmus (HP:0012043)1.78315752
89Medial flaring of the eyebrow (HP:0010747)1.78115263
90Abnormality of alanine metabolism (HP:0010916)1.77826351
91Hyperalaninemia (HP:0003348)1.77826351
92Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.77826351
93Abnormal respiratory epithelium morphology (HP:0012253)1.77148349
94Abnormal respiratory motile cilium morphology (HP:0005938)1.77148349
95IgM deficiency (HP:0002850)1.76103244
96Hypothermia (HP:0002045)1.75413570
97Optic nerve hypoplasia (HP:0000609)1.73688520
98Absent thumb (HP:0009777)1.73036558
99Meckel diverticulum (HP:0002245)1.71814059
100Exercise intolerance (HP:0003546)1.71809345

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TAOK34.43534736
2VRK23.84428518
3NUAK13.45044726
4TLK13.40205886
5TSSK62.88926473
6MST42.68698703
7ZAK2.67933002
8MAP4K22.57478929
9BMPR1B2.32601270
10BUB12.27787612
11VRK12.09541854
12TXK2.03702069
13PINK12.02345000
14EIF2AK31.98408178
15PASK1.91406549
16STK161.89145784
17GRK11.87209677
18WNK31.81430240
19ADRBK21.77921452
20NEK11.65974681
21OXSR11.65586051
22FRK1.64259264
23PLK31.54335067
24ACVR1B1.46752987
25WNK41.46546005
26KIT1.45053633
27NME11.44312876
28MKNK11.37464157
29MKNK21.32573225
30SRPK11.30515735
31EIF2AK11.29002924
32STK391.19281088
33TAF11.16066041
34FGFR21.12298679
35TNIK1.11401006
36PNCK1.07820232
37TGFBR11.07716803
38EIF2AK21.02017053
39PLK40.99362396
40IKBKB0.99222605
41PLK20.96660068
42TRIM280.95545069
43CDK80.91872925
44BMPR20.91542025
45WEE10.91117104
46PHKG10.89725278
47PHKG20.89725278
48CDC70.87756148
49INSRR0.87636689
50CDK190.87478569
51MAP3K120.83334731
52TEC0.79470856
53BRSK20.73902628
54DYRK20.73415726
55STK38L0.68204161
56TIE10.64278658
57CSNK1G20.63659996
58MAPKAPK50.61900193
59CSNK1G30.61597741
60RPS6KA50.59987497
61ITK0.59693894
62MAP4K10.59365664
63ERBB30.58312535
64MAP2K60.57218101
65MAP2K20.56831192
66CSNK1G10.55956037
67PDK20.53605660
68BCKDK0.52676734
69ALK0.49443655
70MAPKAPK30.47927680
71MYLK0.46937766
72PLK10.45988397
73DAPK20.44646627
74IKBKE0.44310054
75CSNK1A1L0.44289179
76IRAK10.43343272
77PBK0.43070680
78AURKB0.42089245
79SIK30.41246007
80CAMKK20.39677138
81ADRBK10.39270711
82GRK60.39030066
83PRKCE0.38744974
84DAPK10.38734813
85MAP3K140.37734558
86ATR0.37524921
87FLT30.36541119
88NLK0.36267164
89CSNK2A10.35912524
90PRKCG0.35735243
91JAK30.35110052
92SYK0.34378239
93MAPK130.34333437
94FES0.34176505
95CSNK2A20.32861201
96PRKCQ0.31692427
97IGF1R0.30588730
98LYN0.29101754
99FGFR10.28813991
100MUSK0.27731786

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.30168442
2Ribosome_Homo sapiens_hsa030103.25080399
3Oxidative phosphorylation_Homo sapiens_hsa001903.23978322
4Asthma_Homo sapiens_hsa053103.00834240
5RNA polymerase_Homo sapiens_hsa030202.84269614
6Parkinsons disease_Homo sapiens_hsa050122.69109397
7Protein export_Homo sapiens_hsa030602.63878430
8Allograft rejection_Homo sapiens_hsa053302.42096629
9Intestinal immune network for IgA production_Homo sapiens_hsa046722.32718882
10Autoimmune thyroid disease_Homo sapiens_hsa053202.25071958
11One carbon pool by folate_Homo sapiens_hsa006702.12057727
12Type I diabetes mellitus_Homo sapiens_hsa049402.11444792
13Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.10646216
14RNA degradation_Homo sapiens_hsa030181.93780365
15Graft-versus-host disease_Homo sapiens_hsa053321.92708364
16Huntingtons disease_Homo sapiens_hsa050161.82665905
17Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.72255595
18Alzheimers disease_Homo sapiens_hsa050101.70752162
19Phototransduction_Homo sapiens_hsa047441.70256647
20Homologous recombination_Homo sapiens_hsa034401.67542265
21Basal transcription factors_Homo sapiens_hsa030221.66275940
22Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.60630630
23Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.58939274
24Mismatch repair_Homo sapiens_hsa034301.54539097
25Non-homologous end-joining_Homo sapiens_hsa034501.53151909
26Nitrogen metabolism_Homo sapiens_hsa009101.46642221
27Antigen processing and presentation_Homo sapiens_hsa046121.45505513
28Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.45010433
29Propanoate metabolism_Homo sapiens_hsa006401.42512671
30Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.41270082
31Nucleotide excision repair_Homo sapiens_hsa034201.39500862
32Spliceosome_Homo sapiens_hsa030401.30645138
33RNA transport_Homo sapiens_hsa030131.27638451
34Primary immunodeficiency_Homo sapiens_hsa053401.18717170
35DNA replication_Homo sapiens_hsa030301.17394884
36Purine metabolism_Homo sapiens_hsa002301.16392439
37Pyrimidine metabolism_Homo sapiens_hsa002401.14687007
38Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.12081313
39Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.11551524
40Rheumatoid arthritis_Homo sapiens_hsa053231.11120893
41Linoleic acid metabolism_Homo sapiens_hsa005911.10742006
42Fanconi anemia pathway_Homo sapiens_hsa034601.10501735
43Cardiac muscle contraction_Homo sapiens_hsa042601.08835773
44Sulfur metabolism_Homo sapiens_hsa009201.05791591
45Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.04114583
46Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.03607564
47Maturity onset diabetes of the young_Homo sapiens_hsa049501.01263013
48Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.99595703
49alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.91705386
50Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.84985067
51Systemic lupus erythematosus_Homo sapiens_hsa053220.83134044
52Base excision repair_Homo sapiens_hsa034100.81589409
53Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.79633262
54Cysteine and methionine metabolism_Homo sapiens_hsa002700.78483642
55Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.78452369
56Butanoate metabolism_Homo sapiens_hsa006500.78280175
57Peroxisome_Homo sapiens_hsa041460.74991184
58Tryptophan metabolism_Homo sapiens_hsa003800.74733242
59Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.71782845
60Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.68045527
61Folate biosynthesis_Homo sapiens_hsa007900.67296613
62Viral myocarditis_Homo sapiens_hsa054160.64928715
63Vitamin B6 metabolism_Homo sapiens_hsa007500.64660264
64Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.63853516
65Caffeine metabolism_Homo sapiens_hsa002320.61195909
66Hematopoietic cell lineage_Homo sapiens_hsa046400.60743322
67Chemical carcinogenesis_Homo sapiens_hsa052040.60205761
68Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.60088870
69Arachidonic acid metabolism_Homo sapiens_hsa005900.59418468
70Metabolic pathways_Homo sapiens_hsa011000.57107350
71Collecting duct acid secretion_Homo sapiens_hsa049660.56917425
72Ether lipid metabolism_Homo sapiens_hsa005650.55570185
73Glutathione metabolism_Homo sapiens_hsa004800.55281689
74Pyruvate metabolism_Homo sapiens_hsa006200.54997345
75Steroid biosynthesis_Homo sapiens_hsa001000.54286294
76Cyanoamino acid metabolism_Homo sapiens_hsa004600.53707493
77Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.53221188
78Selenocompound metabolism_Homo sapiens_hsa004500.51425401
79Pentose and glucuronate interconversions_Homo sapiens_hsa000400.50814851
80Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.50083032
81Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.47989884
82Retinol metabolism_Homo sapiens_hsa008300.46617196
83Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.45191803
84Regulation of autophagy_Homo sapiens_hsa041400.43096182
85NOD-like receptor signaling pathway_Homo sapiens_hsa046210.42548928
86Fat digestion and absorption_Homo sapiens_hsa049750.41898854
87Epstein-Barr virus infection_Homo sapiens_hsa051690.41233999
88Primary bile acid biosynthesis_Homo sapiens_hsa001200.40849320
89Staphylococcus aureus infection_Homo sapiens_hsa051500.40415291
90SNARE interactions in vesicular transport_Homo sapiens_hsa041300.39282228
91Vitamin digestion and absorption_Homo sapiens_hsa049770.34607270
92Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.32200862
93Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.30739217
94Nicotine addiction_Homo sapiens_hsa050330.29869287
95Glycerolipid metabolism_Homo sapiens_hsa005610.28763965
96Olfactory transduction_Homo sapiens_hsa047400.28735200
97Steroid hormone biosynthesis_Homo sapiens_hsa001400.27459541
98Fatty acid elongation_Homo sapiens_hsa000620.26978605
99beta-Alanine metabolism_Homo sapiens_hsa004100.26646898
100Serotonergic synapse_Homo sapiens_hsa047260.24957940

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