EIF2S2P3

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)5.93467148
2RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)5.36493445
3tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)5.36493445
4cytidine deamination (GO:0009972)5.09925233
5cytidine metabolic process (GO:0046087)5.09925233
6cytidine catabolic process (GO:0006216)5.09925233
7proteasome assembly (GO:0043248)4.88939493
8regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450914.53613366
9mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.39316469
10folic acid-containing compound biosynthetic process (GO:0009396)4.17930098
11purine nucleotide salvage (GO:0032261)4.17693896
12pyrimidine ribonucleoside catabolic process (GO:0046133)4.06838578
13energy coupled proton transport, down electrochemical gradient (GO:0015985)4.04133890
14ATP synthesis coupled proton transport (GO:0015986)4.04133890
15establishment of protein localization to mitochondrial membrane (GO:0090151)3.94959529
16rRNA modification (GO:0000154)3.91963619
17protein-cofactor linkage (GO:0018065)3.89994501
18mitochondrial respiratory chain complex I assembly (GO:0032981)3.86383391
19NADH dehydrogenase complex assembly (GO:0010257)3.86383391
20mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.86383391
21protein neddylation (GO:0045116)3.81997056
22regulation of vitamin D biosynthetic process (GO:0060556)3.81282844
23negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.78325962
24protein complex biogenesis (GO:0070271)3.73870410
25mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.63154715
26rRNA methylation (GO:0031167)3.61228105
27regulation of cellular amino acid metabolic process (GO:0006521)3.60580656
28pseudouridine synthesis (GO:0001522)3.59857830
29positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.55105113
30adenosine metabolic process (GO:0046085)3.54735450
31mitochondrial respiratory chain complex assembly (GO:0033108)3.54208254
32DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.49981648
33platelet dense granule organization (GO:0060155)3.44931654
34negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.43976935
35negative regulation of ligase activity (GO:0051352)3.43976935
36mitochondrial RNA metabolic process (GO:0000959)3.40823750
37L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.38598394
38ribosomal small subunit assembly (GO:0000028)3.38356652
39intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.38128562
40signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.38128562
41nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.37295762
42regulation of regulatory T cell differentiation (GO:0045589)3.35928120
43regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.35746227
44respiratory electron transport chain (GO:0022904)3.34951851
45signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.34458579
46signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.34458579
47signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.34458579
48CENP-A containing nucleosome assembly (GO:0034080)3.29631079
49electron transport chain (GO:0022900)3.29298719
50chaperone-mediated protein transport (GO:0072321)3.25929077
51exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.24427198
52positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.17736668
53signal transduction involved in DNA damage checkpoint (GO:0072422)3.15749338
54signal transduction involved in DNA integrity checkpoint (GO:0072401)3.15749338
55pteridine-containing compound biosynthetic process (GO:0042559)3.14093038
56cullin deneddylation (GO:0010388)3.13999001
57signal transduction involved in cell cycle checkpoint (GO:0072395)3.12007453
58response to interferon-beta (GO:0035456)3.09833156
59single strand break repair (GO:0000012)3.08758170
60positive regulation of ligase activity (GO:0051351)3.08488122
61regulation of chronic inflammatory response (GO:0002676)3.06805430
62regulation of isotype switching to IgG isotypes (GO:0048302)3.04809038
63transcription elongation from RNA polymerase III promoter (GO:0006385)3.03624968
64termination of RNA polymerase III transcription (GO:0006386)3.03624968
65regulation of vitamin metabolic process (GO:0030656)3.03439487
66anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.00366219
67cellular response to interferon-beta (GO:0035458)3.00012350
68water-soluble vitamin biosynthetic process (GO:0042364)2.98487873
69chromatin remodeling at centromere (GO:0031055)2.96809543
70homocysteine metabolic process (GO:0050667)2.92468415
71ribosome biogenesis (GO:0042254)2.89144456
72antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.88011016
73protein deneddylation (GO:0000338)2.87297514
74DNA ligation (GO:0006266)2.85082990
75DNA catabolic process, exonucleolytic (GO:0000738)2.83175450
76maturation of 5.8S rRNA (GO:0000460)2.82997241
77cellular component biogenesis (GO:0044085)2.80754910
78maturation of SSU-rRNA (GO:0030490)2.79319487
79amino acid salvage (GO:0043102)2.79238651
80L-methionine salvage (GO:0071267)2.79238651
81L-methionine biosynthetic process (GO:0071265)2.79238651
82ribosomal large subunit biogenesis (GO:0042273)2.78425147
83ribosome assembly (GO:0042255)2.75478506
84DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.75157410
85positive regulation of cell cycle arrest (GO:0071158)2.74319139
86rRNA processing (GO:0006364)2.73897452
87IMP biosynthetic process (GO:0006188)2.73352348
88inner mitochondrial membrane organization (GO:0007007)2.72550116
89transcription from RNA polymerase I promoter (GO:0006360)2.68036562
90regulation of ubiquitin-protein transferase activity (GO:0051438)2.67701111
91termination of RNA polymerase I transcription (GO:0006363)2.67138800
92rRNA metabolic process (GO:0016072)2.67022506
93regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.66746576
94transcription elongation from RNA polymerase I promoter (GO:0006362)2.66737538
95ribonucleoprotein complex biogenesis (GO:0022613)2.66461645
96antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.65809373
97translation (GO:0006412)2.63420390
98regulation of ligase activity (GO:0051340)2.62173636
99alternative mRNA splicing, via spliceosome (GO:0000380)2.61258069
100tetrahydrofolate metabolic process (GO:0046653)2.57899951

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse6.01952604
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.60563460
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.37377502
4SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.29639047
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.98580805
6ELF1_17652178_ChIP-ChIP_JURKAT_Human3.37687681
7JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.16019800
8VDR_22108803_ChIP-Seq_LS180_Human2.96545095
9HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.80052130
10VDR_23849224_ChIP-Seq_CD4+_Human2.72231413
11ETS1_20019798_ChIP-Seq_JURKAT_Human2.67797797
12FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.52782176
13ELK1_19687146_ChIP-ChIP_HELA_Human2.49306963
14FLI1_27457419_Chip-Seq_LIVER_Mouse2.48508736
15BP1_19119308_ChIP-ChIP_Hs578T_Human2.32385892
16NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.30720621
17MYC_18555785_ChIP-Seq_MESCs_Mouse2.26178825
18CREB1_15753290_ChIP-ChIP_HEK293T_Human2.15830643
19FOXP3_21729870_ChIP-Seq_TREG_Human2.14357053
20CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.12875828
21IRF8_22096565_ChIP-ChIP_GC-B_Human2.07009232
22FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.89771270
23MYC_18358816_ChIP-ChIP_MESCs_Mouse1.89629466
24PCGF2_27294783_Chip-Seq_ESCs_Mouse1.77348507
25SRF_21415370_ChIP-Seq_HL-1_Mouse1.71513730
26MYC_18940864_ChIP-ChIP_HL60_Human1.69867508
27E2F4_17652178_ChIP-ChIP_JURKAT_Human1.69116880
28IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.68569894
29MYC_19030024_ChIP-ChIP_MESCs_Mouse1.67578253
30HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.65306540
31IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.60996552
32IRF8_21731497_ChIP-ChIP_J774_Mouse1.60804738
33MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.54788533
34CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.54071881
35PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.53871173
36CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.51921625
37STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.50214679
38FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.41768038
39PADI4_21655091_ChIP-ChIP_MCF-7_Human1.41705817
40GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.41132685
41SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.40205523
42EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.38707211
43MYB_26560356_Chip-Seq_TH2_Human1.38651952
44EWS_26573619_Chip-Seq_HEK293_Human1.38252178
45YY1_21170310_ChIP-Seq_MESCs_Mouse1.35133739
46SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.34935538
47MYC_19079543_ChIP-ChIP_MESCs_Mouse1.34202340
48HOXB4_20404135_ChIP-ChIP_EML_Mouse1.32947093
49FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.29181801
50TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.28989451
51E2F7_22180533_ChIP-Seq_HELA_Human1.28821829
52PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.24722325
53GATA3_26560356_Chip-Seq_TH2_Human1.24418902
54EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.23278298
55TP53_22573176_ChIP-Seq_HFKS_Human1.23103730
56GABP_19822575_ChIP-Seq_HepG2_Human1.22943810
57EZH2_27294783_Chip-Seq_NPCs_Mouse1.16433491
58DCP1A_22483619_ChIP-Seq_HELA_Human1.15606037
59AR_20517297_ChIP-Seq_VCAP_Human1.14702575
60HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.13636362
61XRN2_22483619_ChIP-Seq_HELA_Human1.12725557
62FOXA1_25329375_ChIP-Seq_VCAP_Human1.12584367
63FOXA1_27270436_Chip-Seq_PROSTATE_Human1.12584367
64NFE2_27457419_Chip-Seq_LIVER_Mouse1.12248536
65NOTCH1_21737748_ChIP-Seq_TLL_Human1.11728422
66E2F1_18555785_ChIP-Seq_MESCs_Mouse1.10758640
67STAT4_19710469_ChIP-ChIP_TH1__Mouse1.09043458
68ELK1_22589737_ChIP-Seq_MCF10A_Human1.08761609
69SUZ12_27294783_Chip-Seq_NPCs_Mouse1.07682511
70YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.06161976
71EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.05775622
72ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.05625554
73NANOG_19829295_ChIP-Seq_ESCs_Human1.03023287
74SOX2_19829295_ChIP-Seq_ESCs_Human1.03023287
75AUTS2_25519132_ChIP-Seq_293T-REX_Human1.01930704
76POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.01699356
77PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.00442636
78MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.00346744
79STAT1_20625510_ChIP-Seq_HELA_Human0.99243548
80FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.98473368
81CTBP1_25329375_ChIP-Seq_LNCAP_Human0.97865012
82NCOR_22424771_ChIP-Seq_293T_Human0.97077238
83TTF2_22483619_ChIP-Seq_HELA_Human0.96686151
84PCGF2_27294783_Chip-Seq_NPCs_Mouse0.95873432
85FOXA1_21572438_ChIP-Seq_LNCaP_Human0.95702982
86POU5F1_16153702_ChIP-ChIP_HESCs_Human0.95212297
87THAP11_20581084_ChIP-Seq_MESCs_Mouse0.94750407
88TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.94396731
89SPI1_23547873_ChIP-Seq_NB4_Human0.94241899
90CBP_20019798_ChIP-Seq_JUKART_Human0.94141522
91IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.94141522
92FOXH1_21741376_ChIP-Seq_EPCs_Human0.93272559
93CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.93155503
94NANOG_20526341_ChIP-Seq_ESCs_Human0.92494377
95CRX_20693478_ChIP-Seq_RETINA_Mouse0.92240996
96ERG_20517297_ChIP-Seq_VCAP_Human0.91595771
97FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.90333919
98ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.88304666
99EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.87987159
100FUS_26573619_Chip-Seq_HEK293_Human0.87507841

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002138_abnormal_hepatobiliary_system4.22246602
2MP0001873_stomach_inflammation3.52065998
3MP0001835_abnormal_antigen_presentation3.40380715
4MP0003806_abnormal_nucleotide_metabolis3.14473765
5MP0005671_abnormal_response_to2.88508960
6MP0008058_abnormal_DNA_repair2.59698652
7MP0008995_early_reproductive_senescence2.56214979
8MP0003786_premature_aging2.51376742
9MP0004147_increased_porphyrin_level2.14220316
10MP0003186_abnormal_redox_activity2.13558821
11MP0005084_abnormal_gallbladder_morpholo2.12576253
12MP0005646_abnormal_pituitary_gland2.10998421
13MP0001919_abnormal_reproductive_system2.04864077
14MP0009785_altered_susceptibility_to2.04082578
15MP0009333_abnormal_splenocyte_physiolog2.03343562
16MP0002736_abnormal_nociception_after2.01941108
17MP0001764_abnormal_homeostasis1.96772647
18MP0001800_abnormal_humoral_immune1.93991611
19MP0005389_reproductive_system_phenotype1.93890541
20MP0002148_abnormal_hypersensitivity_rea1.91375565
21MP0005000_abnormal_immune_tolerance1.86318751
22MP0006072_abnormal_retinal_apoptosis1.75888286
23MP0008872_abnormal_physiological_respon1.75813868
24MP0001968_abnormal_touch/_nociception1.72869333
25MP0008007_abnormal_cellular_replicative1.64121571
26MP0005387_immune_system_phenotype1.60830835
27MP0001790_abnormal_immune_system1.60830835
28MP0002166_altered_tumor_susceptibility1.57810682
29MP0002723_abnormal_immune_serum1.56744673
30MP0002160_abnormal_reproductive_system1.53372638
31MP0002837_dystrophic_cardiac_calcinosis1.50275387
32MP0004957_abnormal_blastocyst_morpholog1.49562798
33MP0002006_tumorigenesis1.46234967
34MP0002420_abnormal_adaptive_immunity1.39810727
35MP0003252_abnormal_bile_duct1.36144383
36MP0001819_abnormal_immune_cell1.35941104
37MP0004885_abnormal_endolymph1.35343656
38MP0002452_abnormal_antigen_presenting1.34008270
39MP0003718_maternal_effect1.33875340
40MP0005075_abnormal_melanosome_morpholog1.29452846
41MP0002933_joint_inflammation1.27710671
42MP0003724_increased_susceptibility_to1.27324706
43MP0009379_abnormal_foot_pigmentation1.27132240
44MP0001986_abnormal_taste_sensitivity1.24837032
45MP0009764_decreased_sensitivity_to1.24648781
46MP0001853_heart_inflammation1.24038370
47MP0002876_abnormal_thyroid_physiology1.23495233
48MP0000703_abnormal_thymus_morphology1.20742687
49MP0002102_abnormal_ear_morphology1.20519281
50MP0002398_abnormal_bone_marrow1.17717565
51MP0008877_abnormal_DNA_methylation1.17208817
52MP0000716_abnormal_immune_system1.16581001
53MP0010094_abnormal_chromosome_stability1.15621909
54MP0005367_renal/urinary_system_phenotyp1.14754944
55MP0000516_abnormal_urinary_system1.14754944
56MP0006036_abnormal_mitochondrial_physio1.14272032
57MP0008057_abnormal_DNA_replication1.12683379
58MP0002405_respiratory_system_inflammati1.11413117
59MP0000689_abnormal_spleen_morphology1.11298872
60MP0008875_abnormal_xenobiotic_pharmacok1.11292342
61MP0003763_abnormal_thymus_physiology1.06933721
62MP0002722_abnormal_immune_system1.05474416
63MP0002429_abnormal_blood_cell1.01004946
64MP0000685_abnormal_immune_system1.00159254
65MP0002396_abnormal_hematopoietic_system0.99665209
66MP0001542_abnormal_bone_strength0.98431257
67MP0003315_abnormal_perineum_morphology0.98356710
68MP0004019_abnormal_vitamin_homeostasis0.98043027
69MP0004043_abnormal_pH_regulation0.93645641
70MP0006054_spinal_hemorrhage0.93199761
71MP0000013_abnormal_adipose_tissue0.91090653
72MP0002210_abnormal_sex_determination0.90392507
73MP0001845_abnormal_inflammatory_respons0.90274569
74MP0008469_abnormal_protein_level0.88955681
75MP0002295_abnormal_pulmonary_circulatio0.86296860
76MP0009765_abnormal_xenobiotic_induced0.85455632
77MP0005645_abnormal_hypothalamus_physiol0.85316125
78MP0005253_abnormal_eye_physiology0.85271902
79MP0002095_abnormal_skin_pigmentation0.84209089
80MP0000653_abnormal_sex_gland0.84176281
81MP0005025_abnormal_response_to0.83168881
82MP0001119_abnormal_female_reproductive0.82982711
83MP0004036_abnormal_muscle_relaxation0.82379135
84MP0000371_diluted_coat_color0.81968650
85MP0003011_delayed_dark_adaptation0.80802533
86MP0005551_abnormal_eye_electrophysiolog0.80295880
87MP0002277_abnormal_respiratory_mucosa0.78261997
88MP0001145_abnormal_male_reproductive0.77376217
89MP0003195_calcinosis0.75990597
90MP0001485_abnormal_pinna_reflex0.75166024
91MP0010155_abnormal_intestine_physiology0.73818183
92MP0002693_abnormal_pancreas_physiology0.73465752
93MP0000613_abnormal_salivary_gland0.73438407
94MP0005332_abnormal_amino_acid0.72076073
95MP0002638_abnormal_pupillary_reflex0.70103146
96MP0002234_abnormal_pharynx_morphology0.69742372
97MP0004145_abnormal_muscle_electrophysio0.69254541
98MP0009643_abnormal_urine_homeostasis0.68475851
99MP0002019_abnormal_tumor_incidence0.68208496
100MP0006035_abnormal_mitochondrial_morpho0.66453415

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.60138740
2Acute encephalopathy (HP:0006846)4.21238751
3Abnormal mitochondria in muscle tissue (HP:0008316)3.91941606
4Progressive macrocephaly (HP:0004481)3.84544489
53-Methylglutaconic aciduria (HP:0003535)3.80010148
6Abnormal number of erythroid precursors (HP:0012131)3.78348093
7Mitochondrial inheritance (HP:0001427)3.77482572
8Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.59485027
9Abnormality of alanine metabolism (HP:0010916)3.59485027
10Hyperalaninemia (HP:0003348)3.59485027
11Abnormality of cells of the erythroid lineage (HP:0012130)3.54849210
12Aplastic anemia (HP:0001915)3.39444471
13Increased CSF lactate (HP:0002490)3.36148571
14Decreased electroretinogram (ERG) amplitude (HP:0000654)3.26341407
15Congenital, generalized hypertrichosis (HP:0004540)3.13644919
16Increased hepatocellular lipid droplets (HP:0006565)3.12025940
17Abnormality of the prostate (HP:0008775)3.00792774
18Type 2 muscle fiber atrophy (HP:0003554)3.00601976
19Cerebral edema (HP:0002181)2.99314191
20Constricted visual fields (HP:0001133)2.96115127
21Premature ovarian failure (HP:0008209)2.87883417
22Lipid accumulation in hepatocytes (HP:0006561)2.83834396
23Nausea (HP:0002018)2.82714555
24Abolished electroretinogram (ERG) (HP:0000550)2.82117079
25Hepatocellular necrosis (HP:0001404)2.76067221
26Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.74433375
27Abnormality of serum amino acid levels (HP:0003112)2.70861026
28Pendular nystagmus (HP:0012043)2.70020259
29Elevated erythrocyte sedimentation rate (HP:0003565)2.65499544
30Muscle fiber atrophy (HP:0100295)2.63391602
31Increased serum lactate (HP:0002151)2.62678026
32Anorexia (HP:0002039)2.62482249
33Hepatic necrosis (HP:0002605)2.59270148
34Lethargy (HP:0001254)2.57813045
35Nonprogressive disorder (HP:0003680)2.57811942
36Lactic acidosis (HP:0003128)2.55347725
37Hyperglycinemia (HP:0002154)2.54551470
38IgG deficiency (HP:0004315)2.48329341
39Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.47407910
40Methylmalonic acidemia (HP:0002912)2.39589137
41Attenuation of retinal blood vessels (HP:0007843)2.38303663
42Congenital sensorineural hearing impairment (HP:0008527)2.35927910
43IgM deficiency (HP:0002850)2.34701960
44Congenital stationary night blindness (HP:0007642)2.28835164
45Metaphyseal dysplasia (HP:0100255)2.23432651
46Methylmalonic aciduria (HP:0012120)2.23291903
47Abnormality of DNA repair (HP:0003254)2.22744689
48Pancytopenia (HP:0001876)2.22248961
49Macrocytic anemia (HP:0001972)2.20167296
50Generalized aminoaciduria (HP:0002909)2.19852748
51Optic disc pallor (HP:0000543)2.18869597
52Exercise intolerance (HP:0003546)2.17531268
53Pulmonary embolism (HP:0002204)2.16890132
54Type II lissencephaly (HP:0007260)2.16834123
55Renal Fanconi syndrome (HP:0001994)2.12932905
56Autoimmune hemolytic anemia (HP:0001890)2.12630554
57Pulmonary fibrosis (HP:0002206)2.07668445
58Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.07100487
59Reticulocytopenia (HP:0001896)2.06481091
60Glycosuria (HP:0003076)2.06389904
61Abnormality of urine glucose concentration (HP:0011016)2.06389904
62Increased IgM level (HP:0003496)2.04570873
63Respiratory failure (HP:0002878)2.04144406
64Stomatitis (HP:0010280)2.00792315
65Chronic hepatic failure (HP:0100626)2.00535001
66Amniotic constriction ring (HP:0009775)1.98727945
67Abnormality of placental membranes (HP:0011409)1.98727945
68Metabolic acidosis (HP:0001942)1.98323292
69Increased corneal curvature (HP:0100692)1.98153273
70Keratoconus (HP:0000563)1.98153273
71Absent thumb (HP:0009777)1.95550471
72Abnormality of serine family amino acid metabolism (HP:0010894)1.95252302
73Abnormality of glycine metabolism (HP:0010895)1.95252302
74Abnormality of T cell physiology (HP:0011840)1.92540717
75Hyperphosphaturia (HP:0003109)1.89686600
76Ketoacidosis (HP:0001993)1.89573375
77Rib fusion (HP:0000902)1.86863933
78Increased intramyocellular lipid droplets (HP:0012240)1.86562694
79Oral leukoplakia (HP:0002745)1.85593708
80Pancreatic cysts (HP:0001737)1.83904695
81Abnormality of T cells (HP:0002843)1.83703436
82Exertional dyspnea (HP:0002875)1.82139802
83Dicarboxylic aciduria (HP:0003215)1.82024680
84Abnormality of dicarboxylic acid metabolism (HP:0010995)1.82024680
85Severe combined immunodeficiency (HP:0004430)1.81133790
86Hyperglycinuria (HP:0003108)1.80924775
87Homocystinuria (HP:0002156)1.79691561
88Abnormality of homocysteine metabolism (HP:0010919)1.79691561
89Dry hair (HP:0011359)1.77198476
90Prostate neoplasm (HP:0100787)1.76812643
91Severe visual impairment (HP:0001141)1.76653696
92Chronic sinusitis (HP:0011109)1.76229576
93Thyroiditis (HP:0100646)1.76160187
94Neutropenia (HP:0001875)1.75880757
95Type I transferrin isoform profile (HP:0003642)1.75612201
96Poor suck (HP:0002033)1.75005589
97Abnormal delayed hypersensitivity skin test (HP:0002963)1.73398129
98Cerebral hypomyelination (HP:0006808)1.72809912
99Vasculitis (HP:0002633)1.71195750
100Birth length less than 3rd percentile (HP:0003561)1.70614679

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TXK5.45708083
2VRK24.46111042
3TSSK63.56168234
4MST43.50385339
5EIF2AK33.35435456
6STK162.92288274
7CDK192.62219623
8TLK12.57978810
9KDR2.41939069
10BMPR1B2.30008371
11NUAK12.25864643
12EIF2AK12.23110466
13TAOK32.18901638
14VRK12.03895981
15OXSR11.95642778
16STK391.90649448
17NEK11.67045936
18BUB11.62958669
19GRK11.59573314
20FRK1.55888713
21RPS6KB21.54957913
22SCYL21.54698171
23ADRBK21.52417544
24MAP4K11.39723225
25EIF2AK21.36686214
26WNK41.26667026
27PLK31.26116956
28TAF11.21399134
29NME11.15333634
30KIT1.05488619
31MAPKAPK51.02035273
32ACVR1B1.01156648
33PBK1.00957250
34PINK10.98200136
35IKBKB0.96878211
36SYK0.96664592
37CDK90.93026712
38TEC0.91594041
39TRIM280.89555858
40IKBKE0.88352901
41ITK0.85375120
42TIE10.83004406
43JAK30.81078901
44PHKG20.79070199
45PHKG10.79070199
46MKNK20.75678438
47STK38L0.67183557
48MKNK10.64442868
49NME20.64114085
50CDC70.61365330
51BTK0.59182128
52CSNK2A10.59051159
53PLK20.58848686
54PRKCQ0.57932781
55BCKDK0.57004627
56SRPK10.56363441
57MAPKAPK30.55582484
58MAP3K120.55137055
59ADRBK10.54237619
60CSNK2A20.52814142
61PLK10.51489109
62DYRK20.50918730
63TESK20.47531150
64OBSCN0.46118732
65RPS6KA50.45177216
66MAP3K110.44417321
67ABL20.43884499
68MYLK0.43854970
69WNK10.43434817
70INSRR0.41492534
71MAP3K30.41266969
72LYN0.41189109
73ZAK0.40504671
74ERBB30.39568125
75ABL10.38550357
76PAK40.38472795
77LCK0.38350574
78PDK20.37669028
79AURKA0.37590608
80ATR0.36736672
81STK240.36185943
82MAPK150.35678697
83CSNK1A10.34353471
84IRAK40.30943159
85IGF1R0.30498313
86BMPR20.29744043
87STK30.29398115
88CSNK1G30.28876043
89PRKCA0.28141115
90AURKB0.27814661
91PRKCE0.27403796
92GRK60.27273965
93PRKCD0.27127541
94PLK40.26929748
95CDK80.26856785
96PRKCI0.25846082
97AKT30.24678678
98PRKACA0.24073960
99PRKCG0.23049913
100ALK0.22939150

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030505.10989368
2Oxidative phosphorylation_Homo sapiens_hsa001903.33750257
3Asthma_Homo sapiens_hsa053103.03702878
4Ribosome_Homo sapiens_hsa030102.82638665
5Protein export_Homo sapiens_hsa030602.77933018
6Autoimmune thyroid disease_Homo sapiens_hsa053202.76180751
7RNA polymerase_Homo sapiens_hsa030202.71984281
8Allograft rejection_Homo sapiens_hsa053302.70552841
9Parkinsons disease_Homo sapiens_hsa050122.62705911
10One carbon pool by folate_Homo sapiens_hsa006702.40534563
11Graft-versus-host disease_Homo sapiens_hsa053322.26963892
12Type I diabetes mellitus_Homo sapiens_hsa049402.21910787
13Intestinal immune network for IgA production_Homo sapiens_hsa046722.17082117
14Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.12424213
15Rheumatoid arthritis_Homo sapiens_hsa053232.01453270
16Primary immunodeficiency_Homo sapiens_hsa053401.92962838
17Huntingtons disease_Homo sapiens_hsa050161.79198413
18Alzheimers disease_Homo sapiens_hsa050101.78740104
19Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.77321702
20Antigen processing and presentation_Homo sapiens_hsa046121.74502305
21Homologous recombination_Homo sapiens_hsa034401.73441164
22Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.68782951
23Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.62539844
24Spliceosome_Homo sapiens_hsa030401.61009370
25Basal transcription factors_Homo sapiens_hsa030221.60013523
26RNA degradation_Homo sapiens_hsa030181.57774770
27Collecting duct acid secretion_Homo sapiens_hsa049661.47612057
28Hematopoietic cell lineage_Homo sapiens_hsa046401.45491647
29RNA transport_Homo sapiens_hsa030131.40894707
30Sulfur metabolism_Homo sapiens_hsa009201.36355914
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.30282128
32Mismatch repair_Homo sapiens_hsa034301.16970525
33Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.09464643
34Cardiac muscle contraction_Homo sapiens_hsa042601.07196407
35Maturity onset diabetes of the young_Homo sapiens_hsa049501.06412932
36Nucleotide excision repair_Homo sapiens_hsa034201.04906709
37Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.01365455
38Pyrimidine metabolism_Homo sapiens_hsa002401.01342081
39DNA replication_Homo sapiens_hsa030300.96317673
40Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.96082979
41Fanconi anemia pathway_Homo sapiens_hsa034600.95425062
42Nitrogen metabolism_Homo sapiens_hsa009100.94177201
43Purine metabolism_Homo sapiens_hsa002300.92180460
44Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.91657398
45Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.89226922
46Systemic lupus erythematosus_Homo sapiens_hsa053220.86469671
47Vitamin digestion and absorption_Homo sapiens_hsa049770.84140121
48Cysteine and methionine metabolism_Homo sapiens_hsa002700.83832400
49Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.83622682
50Propanoate metabolism_Homo sapiens_hsa006400.82714876
51Arginine biosynthesis_Homo sapiens_hsa002200.82335488
52Non-homologous end-joining_Homo sapiens_hsa034500.80184030
53Phototransduction_Homo sapiens_hsa047440.79953154
54Olfactory transduction_Homo sapiens_hsa047400.78695898
55Selenocompound metabolism_Homo sapiens_hsa004500.78104069
56Viral myocarditis_Homo sapiens_hsa054160.77716494
57Peroxisome_Homo sapiens_hsa041460.73801051
58NF-kappa B signaling pathway_Homo sapiens_hsa040640.72557134
59Epstein-Barr virus infection_Homo sapiens_hsa051690.70294162
60Herpes simplex infection_Homo sapiens_hsa051680.69877960
61Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.67443044
62Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.65684832
63Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.63733979
64Butanoate metabolism_Homo sapiens_hsa006500.63020324
65T cell receptor signaling pathway_Homo sapiens_hsa046600.61486615
66Measles_Homo sapiens_hsa051620.58117496
67Retinol metabolism_Homo sapiens_hsa008300.57123868
68Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.54631210
69Glutathione metabolism_Homo sapiens_hsa004800.54610105
70Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.53749351
71Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.52741175
72mRNA surveillance pathway_Homo sapiens_hsa030150.52705823
73Leishmaniasis_Homo sapiens_hsa051400.51497664
74Linoleic acid metabolism_Homo sapiens_hsa005910.51350945
75Regulation of autophagy_Homo sapiens_hsa041400.51299838
76Metabolic pathways_Homo sapiens_hsa011000.48142557
77Staphylococcus aureus infection_Homo sapiens_hsa051500.47727326
78Base excision repair_Homo sapiens_hsa034100.46159216
79Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.45567013
80Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.43688773
81Steroid hormone biosynthesis_Homo sapiens_hsa001400.43012811
82Caffeine metabolism_Homo sapiens_hsa002320.41812186
83Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.34719177
84Legionellosis_Homo sapiens_hsa051340.34150339
85Chemical carcinogenesis_Homo sapiens_hsa052040.33817080
86Arachidonic acid metabolism_Homo sapiens_hsa005900.33019328
87Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.32053981
88Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.28739276
892-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.28561170
90Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.27572819
91SNARE interactions in vesicular transport_Homo sapiens_hsa041300.24278488
92Morphine addiction_Homo sapiens_hsa050320.24092116
93Folate biosynthesis_Homo sapiens_hsa007900.22981948
94Serotonergic synapse_Homo sapiens_hsa047260.22740637
95Malaria_Homo sapiens_hsa051440.22671359
96HTLV-I infection_Homo sapiens_hsa051660.20858485
97Tryptophan metabolism_Homo sapiens_hsa003800.20259468
98Ether lipid metabolism_Homo sapiens_hsa005650.18893973
99Galactose metabolism_Homo sapiens_hsa000520.18831897
100NOD-like receptor signaling pathway_Homo sapiens_hsa046210.18693683

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