EEF1B2P3

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
1protein K11-linked deubiquitination (GO:0035871)4.89228303
2DNA double-strand break processing (GO:0000729)4.36595104
3replication fork processing (GO:0031297)4.24298035
4DNA deamination (GO:0045006)4.04174817
5proteasome assembly (GO:0043248)3.80962682
6ribosomal small subunit assembly (GO:0000028)3.79101184
7protein complex biogenesis (GO:0070271)3.66177138
8response to pheromone (GO:0019236)3.55015765
9nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.54095899
10exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.49515940
11synapsis (GO:0007129)3.43537794
12mitochondrial respiratory chain complex assembly (GO:0033108)3.41468770
13respiratory chain complex IV assembly (GO:0008535)3.31209361
14mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.31120888
15mitochondrial respiratory chain complex I assembly (GO:0032981)3.31120888
16NADH dehydrogenase complex assembly (GO:0010257)3.31120888
17detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.27714795
18maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.19021499
19cytochrome complex assembly (GO:0017004)3.18661321
20protein-cofactor linkage (GO:0018065)3.18348228
21negative regulation of DNA-dependent DNA replication (GO:2000104)3.18259519
22piRNA metabolic process (GO:0034587)3.15926863
23serotonin receptor signaling pathway (GO:0007210)3.14153167
24platelet dense granule organization (GO:0060155)3.14063374
25protein K6-linked ubiquitination (GO:0085020)3.10306993
26chromatin remodeling at centromere (GO:0031055)3.09765356
27RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.09391455
28tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.08897526
29RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.08897526
30DNA catabolic process, exonucleolytic (GO:0000738)3.06311814
31recombinational repair (GO:0000725)3.06102563
32double-strand break repair via homologous recombination (GO:0000724)3.05422779
33water-soluble vitamin biosynthetic process (GO:0042364)3.04558569
34rRNA catabolic process (GO:0016075)3.00746468
35pseudouridine synthesis (GO:0001522)2.97382264
36CENP-A containing nucleosome assembly (GO:0034080)2.92985146
37L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.90753320
38otic vesicle formation (GO:0030916)2.89831301
39mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.89697050
40telomere maintenance via semi-conservative replication (GO:0032201)2.89147943
41regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.86358044
42nucleotide-excision repair, DNA gap filling (GO:0006297)2.80055499
43centriole replication (GO:0007099)2.78722903
44regulation of meiosis I (GO:0060631)2.74427140
45indole-containing compound catabolic process (GO:0042436)2.74173559
46indolalkylamine catabolic process (GO:0046218)2.74173559
47tryptophan catabolic process (GO:0006569)2.74173559
48S-adenosylmethionine metabolic process (GO:0046500)2.73104499
49telomere maintenance via recombination (GO:0000722)2.72872545
50branched-chain amino acid catabolic process (GO:0009083)2.72109939
51nucleobase biosynthetic process (GO:0046112)2.69199612
52sulfation (GO:0051923)2.68077527
53mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.67717317
54termination of RNA polymerase III transcription (GO:0006386)2.67434506
55transcription elongation from RNA polymerase III promoter (GO:0006385)2.67434506
56behavioral response to nicotine (GO:0035095)2.66890688
57maturation of 5.8S rRNA (GO:0000460)2.66835630
58CTP biosynthetic process (GO:0006241)2.66761526
59CTP metabolic process (GO:0046036)2.66761526
60negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.65735283
61indolalkylamine metabolic process (GO:0006586)2.65129636
62histone exchange (GO:0043486)2.64114399
63postreplication repair (GO:0006301)2.63334618
64aldehyde catabolic process (GO:0046185)2.63007948
65histone mRNA metabolic process (GO:0008334)2.59388288
66mitotic recombination (GO:0006312)2.58229416
67GTP biosynthetic process (GO:0006183)2.57651831
68prenylation (GO:0097354)2.56517984
69protein prenylation (GO:0018342)2.56517984
70purine nucleobase biosynthetic process (GO:0009113)2.55744246
71energy coupled proton transport, down electrochemical gradient (GO:0015985)2.55689661
72ATP synthesis coupled proton transport (GO:0015986)2.55689661
73lactate metabolic process (GO:0006089)2.55513852
74pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.55222749
75tryptophan metabolic process (GO:0006568)2.55180933
76regulation of cellular amino acid metabolic process (GO:0006521)2.55126985
77DNA replication-dependent nucleosome assembly (GO:0006335)2.54714645
78DNA replication-dependent nucleosome organization (GO:0034723)2.54714645
79establishment of protein localization to mitochondrial membrane (GO:0090151)2.54237646
80regulation of appetite (GO:0032098)2.53758088
81mannosylation (GO:0097502)2.52769125
82axoneme assembly (GO:0035082)2.52561370
83DNA replication checkpoint (GO:0000076)2.49565090
84DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.49431455
85L-methionine salvage (GO:0071267)2.49301819
86L-methionine biosynthetic process (GO:0071265)2.49301819
87amino acid salvage (GO:0043102)2.49301819
88intra-S DNA damage checkpoint (GO:0031573)2.49280045
89thyroid hormone metabolic process (GO:0042403)2.48291224
90positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.47042118
91L-fucose metabolic process (GO:0042354)2.46047896
92L-fucose catabolic process (GO:0042355)2.46047896
93fucose catabolic process (GO:0019317)2.46047896
94signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.45738563
95signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.45738563
96signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.45738563
97regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.45633543
98protein neddylation (GO:0045116)2.45325508
99pyrimidine nucleoside triphosphate metabolic process (GO:0009147)2.44991206
100rRNA modification (GO:0000154)2.42407906

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human3.80328086
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.30519328
3GABP_17652178_ChIP-ChIP_JURKAT_Human3.29286958
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.13284865
5ZNF274_21170338_ChIP-Seq_K562_Hela2.99067136
6EST1_17652178_ChIP-ChIP_JURKAT_Human2.77832356
7MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.74020120
8VDR_22108803_ChIP-Seq_LS180_Human2.69738492
9HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.52039881
10FLI1_27457419_Chip-Seq_LIVER_Mouse2.43934944
11HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.41656462
12E2F4_17652178_ChIP-ChIP_JURKAT_Human2.40476564
13GBX2_23144817_ChIP-Seq_PC3_Human2.27800336
14EWS_26573619_Chip-Seq_HEK293_Human2.25601941
15FUS_26573619_Chip-Seq_HEK293_Human2.16018932
16IGF1R_20145208_ChIP-Seq_DFB_Human2.15305228
17VDR_23849224_ChIP-Seq_CD4+_Human2.09571595
18POU3F2_20337985_ChIP-ChIP_501MEL_Human2.08433459
19ELK1_19687146_ChIP-ChIP_HELA_Human1.98248383
20SALL1_21062744_ChIP-ChIP_HESCs_Human1.95472839
21ZFP57_27257070_Chip-Seq_ESCs_Mouse1.94290713
22TAF15_26573619_Chip-Seq_HEK293_Human1.88310238
23ETS1_20019798_ChIP-Seq_JURKAT_Human1.84267902
24JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.84176469
25P300_19829295_ChIP-Seq_ESCs_Human1.82323648
26PCGF2_27294783_Chip-Seq_ESCs_Mouse1.82007401
27MYC_18940864_ChIP-ChIP_HL60_Human1.81784021
28FOXP3_21729870_ChIP-Seq_TREG_Human1.78197043
29ELF1_17652178_ChIP-ChIP_JURKAT_Human1.77968802
30CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.69881080
31EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.68763035
32IRF1_19129219_ChIP-ChIP_H3396_Human1.67779847
33CREB1_15753290_ChIP-ChIP_HEK293T_Human1.65679708
34GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.63726824
35ER_23166858_ChIP-Seq_MCF-7_Human1.62721925
36CTBP2_25329375_ChIP-Seq_LNCAP_Human1.62082965
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.59065272
38TP53_22573176_ChIP-Seq_HFKS_Human1.53374892
39NOTCH1_21737748_ChIP-Seq_TLL_Human1.52842975
40SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.45634036
41MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.45528718
42EZH2_27294783_Chip-Seq_NPCs_Mouse1.45338133
43SRF_21415370_ChIP-Seq_HL-1_Mouse1.44251543
44FOXA1_25329375_ChIP-Seq_VCAP_Human1.39585041
45FOXA1_27270436_Chip-Seq_PROSTATE_Human1.39585041
46UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.37802509
47CBP_20019798_ChIP-Seq_JUKART_Human1.37113350
48IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.37113350
49FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.36833409
50GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.36709897
51NFE2_27457419_Chip-Seq_LIVER_Mouse1.36283646
52PCGF2_27294783_Chip-Seq_NPCs_Mouse1.34583087
53SUZ12_27294783_Chip-Seq_NPCs_Mouse1.30759567
54POU5F1_16153702_ChIP-ChIP_HESCs_Human1.30743302
55FOXA1_21572438_ChIP-Seq_LNCaP_Human1.30643938
56BCAT_22108803_ChIP-Seq_LS180_Human1.28952269
57SOX2_19829295_ChIP-Seq_ESCs_Human1.28049654
58NANOG_19829295_ChIP-Seq_ESCs_Human1.28049654
59KLF5_20875108_ChIP-Seq_MESCs_Mouse1.27456840
60CRX_20693478_ChIP-Seq_RETINA_Mouse1.25000280
61CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.23286047
62PADI4_21655091_ChIP-ChIP_MCF-7_Human1.21823411
63TCF4_22108803_ChIP-Seq_LS180_Human1.20342180
64NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.20338374
65AR_25329375_ChIP-Seq_VCAP_Human1.19892093
66AUTS2_25519132_ChIP-Seq_293T-REX_Human1.19560501
67MYC_18555785_ChIP-Seq_MESCs_Mouse1.18561206
68CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.18500952
69GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.15420729
70AR_20517297_ChIP-Seq_VCAP_Human1.10258551
71PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.10155038
72SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.08304533
73OCT4_21477851_ChIP-Seq_ESCs_Mouse1.07022746
74AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.06221924
75NCOR_22424771_ChIP-Seq_293T_Human1.06168269
76EGR1_23403033_ChIP-Seq_LIVER_Mouse1.05647513
77SMAD4_21799915_ChIP-Seq_A2780_Human1.04547939
78RUNX2_22187159_ChIP-Seq_PCA_Human1.02341841
79FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.02162004
80SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.01669660
81STAT3_23295773_ChIP-Seq_U87_Human1.01237357
82SMAD3_21741376_ChIP-Seq_EPCs_Human1.00715597
83CDX2_22108803_ChIP-Seq_LS180_Human1.00283607
84FLI1_21867929_ChIP-Seq_TH2_Mouse1.00234528
85PHF8_20622853_ChIP-Seq_HELA_Human0.98624560
86TCF4_23295773_ChIP-Seq_U87_Human0.98371992
87TTF2_22483619_ChIP-Seq_HELA_Human0.97859400
88GATA3_21878914_ChIP-Seq_MCF-7_Human0.97334512
89HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.96570303
90RBPJ_21746931_ChIP-Seq_IB4_Human0.96135283
91STAT3_18555785_Chip-Seq_ESCs_Mouse0.94137985
92P53_22387025_ChIP-Seq_ESCs_Mouse0.92679496
93SMAD4_21741376_ChIP-Seq_EPCs_Human0.92103313
94NANOG_18555785_Chip-Seq_ESCs_Mouse0.91617734
95ETV1_20927104_ChIP-Seq_GIST48_Human0.91611344
96MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.91385186
97PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.90938960
98E2F1_21310950_ChIP-Seq_MCF-7_Human0.90699202
99EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.90197393
100CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.89678413

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006292_abnormal_olfactory_placode3.63673801
2MP0008877_abnormal_DNA_methylation3.05459321
3MP0000372_irregular_coat_pigmentation2.89324824
4MP0002102_abnormal_ear_morphology2.79432438
5MP0008058_abnormal_DNA_repair2.43867621
6MP0010094_abnormal_chromosome_stability2.41813098
7MP0003646_muscle_fatigue2.30415915
8MP0008995_early_reproductive_senescence2.24416959
9MP0005551_abnormal_eye_electrophysiolog2.24334427
10MP0003806_abnormal_nucleotide_metabolis2.18955147
11MP0006072_abnormal_retinal_apoptosis2.17399862
12MP0003195_calcinosis2.14674999
13MP0008875_abnormal_xenobiotic_pharmacok2.01569255
14MP0004147_increased_porphyrin_level1.97113495
15MP0002736_abnormal_nociception_after1.91076562
16MP0002938_white_spotting1.77350164
17MP0008872_abnormal_physiological_respon1.75042278
18MP0003786_premature_aging1.72824118
19MP0005389_reproductive_system_phenotype1.72274980
20MP0002138_abnormal_hepatobiliary_system1.67409778
21MP0005084_abnormal_gallbladder_morpholo1.67160242
22MP0002837_dystrophic_cardiac_calcinosis1.67046243
23MP0001293_anophthalmia1.66190194
24MP0002254_reproductive_system_inflammat1.65796406
25MP0003718_maternal_effect1.65773193
26MP0001764_abnormal_homeostasis1.61800851
27MP0003693_abnormal_embryo_hatching1.61603550
28MP0005075_abnormal_melanosome_morpholog1.61058003
29MP0003787_abnormal_imprinting1.59952972
30MP0005253_abnormal_eye_physiology1.59787536
31MP0001919_abnormal_reproductive_system1.57926759
32MP0009379_abnormal_foot_pigmentation1.54235001
33MP0001968_abnormal_touch/_nociception1.49483230
34MP0003880_abnormal_central_pattern1.48523233
35MP0003136_yellow_coat_color1.48012150
36MP0002095_abnormal_skin_pigmentation1.46215696
37MP0006276_abnormal_autonomic_nervous1.46172613
38MP0001984_abnormal_olfaction1.42479294
39MP0005174_abnormal_tail_pigmentation1.40344055
40MP0004142_abnormal_muscle_tone1.39743719
41MP0005645_abnormal_hypothalamus_physiol1.39160278
42MP0002638_abnormal_pupillary_reflex1.36737931
43MP0001485_abnormal_pinna_reflex1.34446935
44MP0005646_abnormal_pituitary_gland1.33768647
45MP0002160_abnormal_reproductive_system1.32702804
46MP0005377_hearing/vestibular/ear_phenot1.26534181
47MP0003878_abnormal_ear_physiology1.26534181
48MP0000631_abnormal_neuroendocrine_gland1.25235414
49MP0001873_stomach_inflammation1.23399059
50MP0009697_abnormal_copulation1.20671299
51MP0003186_abnormal_redox_activity1.20468506
52MP0001986_abnormal_taste_sensitivity1.19730888
53MP0002876_abnormal_thyroid_physiology1.19189224
54MP0002234_abnormal_pharynx_morphology1.18846759
55MP0005671_abnormal_response_to1.13693125
56MP0003121_genomic_imprinting1.11851230
57MP0002210_abnormal_sex_determination1.11014691
58MP0004043_abnormal_pH_regulation1.09013972
59MP0000516_abnormal_urinary_system1.08068154
60MP0005367_renal/urinary_system_phenotyp1.08068154
61MP0001486_abnormal_startle_reflex1.07459800
62MP0001929_abnormal_gametogenesis1.07382879
63MP0008057_abnormal_DNA_replication1.06213231
64MP0001119_abnormal_female_reproductive1.06123360
65MP0002163_abnormal_gland_morphology1.04642494
66MP0004145_abnormal_muscle_electrophysio1.03620279
67MP0004957_abnormal_blastocyst_morpholog1.02915425
68MP0000639_abnormal_adrenal_gland1.01627885
69MP0008789_abnormal_olfactory_epithelium1.01135475
70MP0000653_abnormal_sex_gland1.00549301
71MP0000427_abnormal_hair_cycle0.96117494
72MP0001145_abnormal_male_reproductive0.95235662
73MP0003567_abnormal_fetal_cardiomyocyte0.95137477
74MP0005410_abnormal_fertilization0.95089480
75MP0005670_abnormal_white_adipose0.92322348
76MP0000613_abnormal_salivary_gland0.90263786
77MP0006036_abnormal_mitochondrial_physio0.90005550
78MP0001529_abnormal_vocalization0.89028724
79MP0001501_abnormal_sleep_pattern0.87973278
80MP0003698_abnormal_male_reproductive0.87055503
81MP0005195_abnormal_posterior_eye0.81701927
82MP0009745_abnormal_behavioral_response0.81269245
83MP0002272_abnormal_nervous_system0.81202793
84MP0009046_muscle_twitch0.80296608
85MP0005408_hypopigmentation0.80285626
86MP0002277_abnormal_respiratory_mucosa0.80195542
87MP0003937_abnormal_limbs/digits/tail_de0.79844742
88MP0005636_abnormal_mineral_homeostasis0.79320825
89MP0002233_abnormal_nose_morphology0.76002456
90MP0003943_abnormal_hepatobiliary_system0.75179553
91MP0006035_abnormal_mitochondrial_morpho0.74986504
92MP0000015_abnormal_ear_pigmentation0.73466027
93MP0005391_vision/eye_phenotype0.71556726
94MP0001905_abnormal_dopamine_level0.71395616
95MP0004885_abnormal_endolymph0.70947602
96MP0005332_abnormal_amino_acid0.70611522
97MP0003137_abnormal_impulse_conducting0.70182793
98MP0001324_abnormal_eye_pigmentation0.70006734
99MP0005310_abnormal_salivary_gland0.68821591
100MP0004215_abnormal_myocardial_fiber0.67505091

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)3.77969130
2True hermaphroditism (HP:0010459)3.72762482
3Molar tooth sign on MRI (HP:0002419)3.52915815
4Abnormality of midbrain morphology (HP:0002418)3.52915815
5Pancreatic fibrosis (HP:0100732)3.39997520
6Absent rod-and cone-mediated responses on ERG (HP:0007688)3.38752379
7Congenital stationary night blindness (HP:0007642)3.27344786
8Attenuation of retinal blood vessels (HP:0007843)3.00255953
9Acute necrotizing encephalopathy (HP:0006965)2.99792176
10Increased CSF lactate (HP:0002490)2.96263857
11Chromosomal breakage induced by crosslinking agents (HP:0003221)2.95977904
12Abnormal rod and cone electroretinograms (HP:0008323)2.95665869
13Mitochondrial inheritance (HP:0001427)2.94545246
14Acute encephalopathy (HP:0006846)2.90806389
15Abolished electroretinogram (ERG) (HP:0000550)2.78140825
16Aplasia/Hypoplasia of the uvula (HP:0010293)2.74419025
17Chromsome breakage (HP:0040012)2.74202769
18Hyperglycinemia (HP:0002154)2.72223367
19Hepatocellular necrosis (HP:0001404)2.71434559
20Nephronophthisis (HP:0000090)2.70643000
21Abnormality of the labia minora (HP:0012880)2.65997241
22Abnormality of the ileum (HP:0001549)2.65957348
23Meckel diverticulum (HP:0002245)2.64721389
24Abnormality of chromosome stability (HP:0003220)2.59809013
25Progressive macrocephaly (HP:0004481)2.57298621
26Increased hepatocellular lipid droplets (HP:0006565)2.56693614
27Abnormal mitochondria in muscle tissue (HP:0008316)2.51357816
28Lipid accumulation in hepatocytes (HP:0006561)2.44530830
29Decreased electroretinogram (ERG) amplitude (HP:0000654)2.42196800
30Hepatic necrosis (HP:0002605)2.38843060
31Abnormality of DNA repair (HP:0003254)2.38345035
32Abnormality of the preputium (HP:0100587)2.37923870
33Decreased central vision (HP:0007663)2.37127504
34Medial flaring of the eyebrow (HP:0010747)2.36138272
35Reticulocytopenia (HP:0001896)2.34110140
36Colon cancer (HP:0003003)2.31899826
37Male pseudohermaphroditism (HP:0000037)2.31677986
38Chronic hepatic failure (HP:0100626)2.30870111
39Pendular nystagmus (HP:0012043)2.27778427
40Cerebral edema (HP:0002181)2.25151851
413-Methylglutaconic aciduria (HP:0003535)2.20146575
42Abnormality of the renal medulla (HP:0100957)2.19694313
43Aplasia/Hypoplasia of the tongue (HP:0010295)2.18733616
44Bile duct proliferation (HP:0001408)2.17658436
45Abnormal biliary tract physiology (HP:0012439)2.17658436
46Aplasia/Hypoplasia of the spleen (HP:0010451)2.16449657
47Cystic liver disease (HP:0006706)2.13310694
48Absent thumb (HP:0009777)2.11941105
49Optic disc pallor (HP:0000543)2.11929853
50Severe combined immunodeficiency (HP:0004430)2.10254933
51Constricted visual fields (HP:0001133)2.09207744
52Septo-optic dysplasia (HP:0100842)2.08820201
53Abnormality of serine family amino acid metabolism (HP:0010894)2.08595094
54Abnormality of glycine metabolism (HP:0010895)2.08595094
55Triphalangeal thumb (HP:0001199)2.07529793
56Asplenia (HP:0001746)2.06926323
57Sclerocornea (HP:0000647)2.06587111
58Hyperglycinuria (HP:0003108)2.05900887
59Clubbing of toes (HP:0100760)2.03301449
60Methylmalonic acidemia (HP:0002912)2.03139547
61Abnormality of the renal cortex (HP:0011035)2.02819815
62Thyroiditis (HP:0100646)2.00834515
63Congenital primary aphakia (HP:0007707)2.00144232
64Sloping forehead (HP:0000340)1.99668269
65Duodenal stenosis (HP:0100867)1.99449931
66Small intestinal stenosis (HP:0012848)1.99449931
67Abnormality of the renal collecting system (HP:0004742)1.96627928
68Increased serum lactate (HP:0002151)1.96171722
69Anencephaly (HP:0002323)1.95314402
70Intestinal atresia (HP:0011100)1.93134479
71IgG deficiency (HP:0004315)1.91570000
72Small hand (HP:0200055)1.90981110
73Stenosis of the external auditory canal (HP:0000402)1.90039087
74Gait imbalance (HP:0002141)1.89843125
75Abnormal drinking behavior (HP:0030082)1.88545826
76Polydipsia (HP:0001959)1.88545826
77Abnormality of serum amino acid levels (HP:0003112)1.87633623
78Abnormality of the duodenum (HP:0002246)1.84119042
79Aplastic anemia (HP:0001915)1.83335873
80Hypomagnesemia (HP:0002917)1.83095791
81Nephrogenic diabetes insipidus (HP:0009806)1.82999417
82Postaxial foot polydactyly (HP:0001830)1.82906054
83Congenital sensorineural hearing impairment (HP:0008527)1.81976009
84Glycosuria (HP:0003076)1.81670452
85Abnormality of urine glucose concentration (HP:0011016)1.81670452
86CNS demyelination (HP:0007305)1.81522227
87Abnormal lung lobation (HP:0002101)1.80793540
88Pancytopenia (HP:0001876)1.79785124
89Renal Fanconi syndrome (HP:0001994)1.78660291
90Genital tract atresia (HP:0001827)1.77846995
91Lactic acidosis (HP:0003128)1.77263036
92Lethargy (HP:0001254)1.76001559
93Hypoproteinemia (HP:0003075)1.74856162
94Supernumerary spleens (HP:0009799)1.74612835
95Optic nerve hypoplasia (HP:0000609)1.74004243
96Ectopic kidney (HP:0000086)1.72551071
97Vaginal atresia (HP:0000148)1.72108631
98Poikiloderma (HP:0001029)1.71420357
99Hypoplasia of the uterus (HP:0000013)1.70780450
100Combined immunodeficiency (HP:0005387)1.70341990

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.26678767
2WNK33.30205563
3ZAK2.78824799
4TXK2.72652074
5MAP4K22.69386344
6NUAK12.67884721
7EIF2AK32.43712876
8CDK192.21498425
9TRIM282.19395162
10GRK12.05469679
11CDC71.93213151
12BCKDK1.89996584
13MST41.87587037
14TAOK31.86270919
15BMPR1B1.80397895
16ADRBK21.74364044
17ACVR1B1.62622158
18OXSR11.61127739
19PLK41.58841876
20EIF2AK11.56668889
21STK391.54444744
22BRSK21.50368808
23WEE11.47777149
24PLK31.42157366
25VRK11.40703867
26VRK21.40332720
27MAPK131.36664840
28MKNK21.34240308
29TLK11.27436572
30TNIK1.27399760
31WNK41.27281044
32PINK11.24967958
33PDK21.23802196
34PLK21.16153767
35INSRR1.13449100
36BUB11.11473300
37NEK11.08788976
38TEC1.08622312
39MKNK11.07709997
40PBK1.07227496
41PRKD31.01547911
42PLK10.98547161
43STK160.94073836
44KDR0.91985060
45MAP3K120.90141494
46FLT30.89473655
47EPHA40.88143346
48MUSK0.85683470
49PASK0.83747984
50TIE10.81416145
51ATR0.81170425
52DYRK20.80436510
53CHEK20.79231948
54NME10.77321565
55EIF2AK20.75919612
56TTK0.72597286
57CASK0.72247601
58CDK30.71069543
59TGFBR10.67215888
60TNK20.66887208
61TSSK60.65715604
62CCNB10.63473577
63PIK3CG0.61036182
64MAP3K40.59463147
65CSNK1G10.59336506
66MAPKAPK30.58608198
67ERBB30.57620888
68PRKCG0.56325194
69ATM0.55477175
70PRKCE0.54822756
71ITK0.53201780
72PRKCQ0.52351933
73RPS6KA40.51901676
74MAP4K10.51155907
75ADRBK10.49758193
76KIT0.49181496
77TRPM70.48743268
78BRSK10.46104708
79STK38L0.45981426
80CSNK2A10.45747490
81BMPR20.45719190
82MAPKAPK50.45680914
83ERBB40.44808508
84OBSCN0.43126245
85DAPK10.42473705
86NLK0.42397308
87CSNK2A20.42119488
88IKBKB0.41549963
89MARK30.41391600
90SIK30.40115786
91GRK70.39828833
92PAK30.39002713
93FGFR20.38389588
94LIMK10.37671498
95RPS6KA50.37295469
96PRKACA0.36794780
97SRPK10.35861128
98PRKCH0.35530095
99PIK3CA0.35231675
100PRKCA0.34853791

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.50811070
2Homologous recombination_Homo sapiens_hsa034402.86898246
3DNA replication_Homo sapiens_hsa030302.46348755
4Fanconi anemia pathway_Homo sapiens_hsa034602.42387281
5Oxidative phosphorylation_Homo sapiens_hsa001902.40771107
6Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.35598836
7Mismatch repair_Homo sapiens_hsa034302.31432587
8Ribosome_Homo sapiens_hsa030102.30439708
9RNA polymerase_Homo sapiens_hsa030202.29177389
10Protein export_Homo sapiens_hsa030602.25321231
11Propanoate metabolism_Homo sapiens_hsa006402.24358254
12Non-homologous end-joining_Homo sapiens_hsa034502.05764123
13Parkinsons disease_Homo sapiens_hsa050122.02665756
14One carbon pool by folate_Homo sapiens_hsa006701.93393612
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.92936310
16Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.89881238
17Phototransduction_Homo sapiens_hsa047441.89578723
18Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.88146331
19RNA degradation_Homo sapiens_hsa030181.81580116
20Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.79972259
21Butanoate metabolism_Homo sapiens_hsa006501.76775431
22Primary immunodeficiency_Homo sapiens_hsa053401.72498467
23Base excision repair_Homo sapiens_hsa034101.70035137
24Linoleic acid metabolism_Homo sapiens_hsa005911.64397689
25Pyrimidine metabolism_Homo sapiens_hsa002401.63112494
26Nucleotide excision repair_Homo sapiens_hsa034201.59993411
27Selenocompound metabolism_Homo sapiens_hsa004501.56289583
28alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.56281393
29Cysteine and methionine metabolism_Homo sapiens_hsa002701.37231160
30Basal transcription factors_Homo sapiens_hsa030221.36590050
31RNA transport_Homo sapiens_hsa030131.35267892
32Huntingtons disease_Homo sapiens_hsa050161.33723986
33Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.28236076
34Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.24581315
35Peroxisome_Homo sapiens_hsa041461.23999981
36Purine metabolism_Homo sapiens_hsa002301.19661189
37Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.17419150
38Nitrogen metabolism_Homo sapiens_hsa009101.17264485
39Tryptophan metabolism_Homo sapiens_hsa003801.13915084
40Caffeine metabolism_Homo sapiens_hsa002321.13213568
41Olfactory transduction_Homo sapiens_hsa047401.11576505
42Ether lipid metabolism_Homo sapiens_hsa005651.09798480
43Alzheimers disease_Homo sapiens_hsa050101.09437334
44Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.09233134
45Asthma_Homo sapiens_hsa053101.05340449
46Maturity onset diabetes of the young_Homo sapiens_hsa049501.03522303
47Primary bile acid biosynthesis_Homo sapiens_hsa001201.01582821
48Fatty acid elongation_Homo sapiens_hsa000620.96734926
49Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.95392708
50Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.94635992
51Steroid hormone biosynthesis_Homo sapiens_hsa001400.93858378
52Fat digestion and absorption_Homo sapiens_hsa049750.93779226
53Glutathione metabolism_Homo sapiens_hsa004800.92546402
54Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.92047102
55Chemical carcinogenesis_Homo sapiens_hsa052040.91363892
56Retinol metabolism_Homo sapiens_hsa008300.90126449
57Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.88565789
58Pyruvate metabolism_Homo sapiens_hsa006200.85749824
59Arachidonic acid metabolism_Homo sapiens_hsa005900.85390998
60Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.82954578
61Fatty acid degradation_Homo sapiens_hsa000710.80327531
62Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.79814815
63Allograft rejection_Homo sapiens_hsa053300.78559840
64Spliceosome_Homo sapiens_hsa030400.78531690
65Metabolic pathways_Homo sapiens_hsa011000.78488497
66Autoimmune thyroid disease_Homo sapiens_hsa053200.75817096
67Intestinal immune network for IgA production_Homo sapiens_hsa046720.74804567
68Fatty acid metabolism_Homo sapiens_hsa012120.74148876
69Cyanoamino acid metabolism_Homo sapiens_hsa004600.72637665
70Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.72529056
71Drug metabolism - other enzymes_Homo sapiens_hsa009830.71777868
72Pentose and glucuronate interconversions_Homo sapiens_hsa000400.66166427
73Type I diabetes mellitus_Homo sapiens_hsa049400.65367130
74Taste transduction_Homo sapiens_hsa047420.64533287
75Nicotine addiction_Homo sapiens_hsa050330.61489194
76Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.60163451
77Vitamin digestion and absorption_Homo sapiens_hsa049770.59926729
78Graft-versus-host disease_Homo sapiens_hsa053320.59365226
79Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.57269693
80Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.56411136
81Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.56134643
82Cardiac muscle contraction_Homo sapiens_hsa042600.54850937
83Folate biosynthesis_Homo sapiens_hsa007900.54325528
84Sulfur relay system_Homo sapiens_hsa041220.53782410
85p53 signaling pathway_Homo sapiens_hsa041150.53688380
86Steroid biosynthesis_Homo sapiens_hsa001000.51507653
87Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.46228186
88Cell cycle_Homo sapiens_hsa041100.44770878
89Regulation of autophagy_Homo sapiens_hsa041400.43795024
90N-Glycan biosynthesis_Homo sapiens_hsa005100.42693311
91beta-Alanine metabolism_Homo sapiens_hsa004100.42388276
92Glycerolipid metabolism_Homo sapiens_hsa005610.41985209
93Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.40318152
94Hematopoietic cell lineage_Homo sapiens_hsa046400.38077178
95Antigen processing and presentation_Homo sapiens_hsa046120.32120241
96Salivary secretion_Homo sapiens_hsa049700.30595293
97SNARE interactions in vesicular transport_Homo sapiens_hsa041300.29829471
98Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.29610805
99Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.25336491
100Mineral absorption_Homo sapiens_hsa049780.21352522

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