TUBA3D

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the alpha tubulin family. Tubulin is a major component of microtubules, which are composed of alpha- and beta-tubulin heterodimers and microtubule-associated proteins in the cytoskeleton. Microtubules maintain cellular structure, function in intracellular transport, and play a role in spindle formation during mitosis. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1male meiosis (GO:0007140)9.89509796
2positive regulation of catecholamine secretion (GO:0033605)9.60218791
3acrosome reaction (GO:0007340)7.74377194
4spermatid development (GO:0007286)7.67457518
5binding of sperm to zona pellucida (GO:0007339)7.33750163
6regulation of oxidative stress-induced neuron death (GO:1903203)7.33552250
7multicellular organism reproduction (GO:0032504)6.99618155
8sperm motility (GO:0030317)6.86993324
9potassium ion export (GO:0071435)6.80826846
10motile cilium assembly (GO:0044458)6.77519302
11regulation of oxidative phosphorylation (GO:0002082)6.73055369
12synapsis (GO:0007129)6.71907088
13relaxation of smooth muscle (GO:0044557)6.70536757
14nucleosome disassembly (GO:0006337)6.12768505
15protein-DNA complex disassembly (GO:0032986)6.12768505
16cGMP-mediated signaling (GO:0019934)5.89182882
17negative regulation of cardiac muscle cell apoptotic process (GO:0010667)5.69046908
18sperm-egg recognition (GO:0035036)5.63439503
19male sex determination (GO:0030238)5.46942350
20activation of protein kinase B activity (GO:0032148)5.36119241
21organic cation transport (GO:0015695)5.32120872
22polyamine biosynthetic process (GO:0006596)5.25235224
23negative regulation of hydrogen peroxide-induced cell death (GO:1903206)5.20084239
24Leydig cell differentiation (GO:0033327)5.11083403
25axonemal dynein complex assembly (GO:0070286)5.08233924
26TOR signaling (GO:0031929)5.01829826
27piRNA metabolic process (GO:0034587)4.98583006
28cell-cell recognition (GO:0009988)4.94392808
29reproduction (GO:0000003)4.86916952
30glycogen metabolic process (GO:0005977)4.85187168
31aspartate family amino acid catabolic process (GO:0009068)4.83853600
32germ cell development (GO:0007281)4.82604114
33chromosome organization involved in meiosis (GO:0070192)4.80817999
34regulation of autophagic vacuole assembly (GO:2000785)4.79783812
35glucan metabolic process (GO:0044042)4.79449561
36cellular glucan metabolic process (GO:0006073)4.79449561
37regulation of hydrogen peroxide-induced cell death (GO:1903205)4.77483838
38negative regulation of response to reactive oxygen species (GO:1901032)4.76798357
39glutamine family amino acid catabolic process (GO:0009065)4.74759907
40protein polymerization (GO:0051258)4.67538962
41single fertilization (GO:0007338)4.57077681
42regulation of dopamine secretion (GO:0014059)4.53264751
43regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.53235118
44cilium or flagellum-dependent cell motility (GO:0001539)4.52365829
45oogenesis (GO:0048477)4.51417590
46meiotic nuclear division (GO:0007126)4.45190687
47epithelial cilium movement (GO:0003351)4.44965591
48regulation of cellular respiration (GO:0043457)4.36800857
49mitochondrion degradation (GO:0000422)4.31127133
50androgen biosynthetic process (GO:0006702)4.24274254
51positive regulation of glycolytic process (GO:0045821)4.15547847
52coenzyme catabolic process (GO:0009109)4.14447902
53tongue development (GO:0043586)4.09566603
54regulation of vacuole organization (GO:0044088)4.07885262
55histone exchange (GO:0043486)4.03358466
56DNA double-strand break processing (GO:0000729)4.02555304
57response to acidic pH (GO:0010447)3.98581183
58membrane repolarization during action potential (GO:0086011)3.91534088
59synaptonemal complex assembly (GO:0007130)3.88373362
60ventricular system development (GO:0021591)3.87836588
61dicarboxylic acid biosynthetic process (GO:0043650)3.82928525
62diacylglycerol metabolic process (GO:0046339)3.81930901
63cellular process involved in reproduction in multicellular organism (GO:0022412)3.76563217
64regulation of synaptic transmission, dopaminergic (GO:0032225)3.72674201
65fusion of sperm to egg plasma membrane (GO:0007342)3.70000057
66negative regulation of striated muscle cell apoptotic process (GO:0010664)3.68367164
67membrane repolarization (GO:0086009)3.64617902
68negative regulation of JNK cascade (GO:0046329)3.64288029
69acrosome assembly (GO:0001675)3.62514939
70regulation of phosphatase activity (GO:0010921)3.61542694
71ventricular cardiac muscle cell action potential (GO:0086005)3.57035888
72DNA methylation involved in gamete generation (GO:0043046)3.56192168
73oligosaccharide biosynthetic process (GO:0009312)3.54747440
74cellular response to toxic substance (GO:0097237)3.53945037
75synaptonemal complex organization (GO:0070193)3.51460205
76positive regulation of amine transport (GO:0051954)3.47713796
77fertilization (GO:0009566)3.47689271
78cilium movement (GO:0003341)3.47453929
79histone H3-K9 demethylation (GO:0033169)3.46553863
80amine biosynthetic process (GO:0009309)3.45558726
81cellular biogenic amine biosynthetic process (GO:0042401)3.44156411
82negative regulation of inclusion body assembly (GO:0090084)3.43002529
83negative regulation of smooth muscle contraction (GO:0045986)3.42624567
84regulation of meiosis I (GO:0060631)3.40149844
85calcium ion-dependent exocytosis (GO:0017156)3.36129750
86phosphatidylethanolamine biosynthetic process (GO:0006646)3.35788455
87relaxation of muscle (GO:0090075)3.26326598
88negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)3.24777802
89polyamine metabolic process (GO:0006595)3.24075383
90negative regulation of stress-activated protein kinase signaling cascade (GO:0070303)3.22137095
91negative regulation of stress-activated MAPK cascade (GO:0032873)3.22137095
92cellular polysaccharide metabolic process (GO:0044264)3.21363596
93peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.17377235
94regulation of protein kinase C signaling (GO:0090036)3.13286205
95potassium ion import (GO:0010107)3.10419982
96sex determination (GO:0007530)3.06658493
97dicarboxylic acid catabolic process (GO:0043649)3.04721882
98phosphatidylethanolamine metabolic process (GO:0046337)3.02033788
99positive regulation of synaptic transmission, dopaminergic (GO:0032226)10.3864671
100regulation of phosphoprotein phosphatase activity (GO:0043666)10.0508505

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human9.20761464
2IGF1R_20145208_ChIP-Seq_DFB_Human5.40310319
3ESR1_20079471_ChIP-ChIP_T-47D_Human4.61039037
4EZH2_22144423_ChIP-Seq_EOC_Human3.75372933
5VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human3.19213177
6TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.90549050
7ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.71027962
8E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.12392340
9AHR_22903824_ChIP-Seq_MCF-7_Human2.09819719
10AR_21909140_ChIP-Seq_LNCAP_Human2.02526605
11FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse10.1825764
12MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.97210233
13ARNT_22903824_ChIP-Seq_MCF-7_Human1.94177196
14ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.92604163
15CTBP2_25329375_ChIP-Seq_LNCAP_Human1.83270520
16HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.82190917
17AR_21572438_ChIP-Seq_LNCaP_Human1.73375088
18FUS_26573619_Chip-Seq_HEK293_Human1.65619383
19NANOG_20526341_ChIP-Seq_ESCs_Human1.65167186
20TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.64964318
21POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.64964318
22ZNF263_19887448_ChIP-Seq_K562_Human1.64722014
23CTCF_27219007_Chip-Seq_Bcells_Human1.62081370
24SMC4_20622854_ChIP-Seq_HELA_Human1.60943364
25PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.58738972
26ER_23166858_ChIP-Seq_MCF-7_Human1.53290303
27RAC3_21632823_ChIP-Seq_H3396_Human1.53256389
28ERA_21632823_ChIP-Seq_H3396_Human1.51424365
29CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.50527639
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.46352147
31WDR5_24793694_ChIP-Seq_LNCAP_Human1.46090321
32SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.45557253
33OCT1_27270436_Chip-Seq_PROSTATE_Human1.42230289
34GBX2_23144817_ChIP-Seq_PC3_Human1.39817703
35VDR_22108803_ChIP-Seq_LS180_Human1.39450118
36BCAT_22108803_ChIP-Seq_LS180_Human1.36357888
37GATA1_22025678_ChIP-Seq_K562_Human1.35349613
38* OCT4_20526341_ChIP-Seq_ESCs_Human1.28894016
39SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.26035661
40EP300_21415370_ChIP-Seq_HL-1_Mouse1.23159967
41TBL1_22424771_ChIP-Seq_293T_Human1.17620187
42CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.17028459
43CBP_20019798_ChIP-Seq_JUKART_Human1.14091570
44IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.14091570
45KLF5_20875108_ChIP-Seq_MESCs_Mouse1.13721630
46PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.13538468
47PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.07736024
48RUNX2_22187159_ChIP-Seq_PCA_Human1.07586815
49UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.06696994
50MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.04872325
51SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.03786917
52SMAD3_21741376_ChIP-Seq_EPCs_Human1.03042205
53RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.02733363
54ERG_20517297_ChIP-Seq_VCAP_Human1.00950008
55CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.99531976
56CTCF_20526341_ChIP-Seq_ESCs_Human0.99348771
57* MYC_19829295_ChIP-Seq_ESCs_Human0.98594591
58EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.98455336
59P68_20966046_ChIP-Seq_HELA_Human0.96980307
60SPI1_20517297_ChIP-Seq_HL60_Human0.95283924
61VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.95017449
62SMAD4_21799915_ChIP-Seq_A2780_Human0.94446478
63PKCTHETA_26484144_Chip-Seq_BREAST_Human0.94396072
64RAD21_21589869_ChIP-Seq_MESCs_Mouse0.92080155
65RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.90203771
66PHF8_20622854_ChIP-Seq_HELA_Human0.90102900
67SMAD4_21741376_ChIP-Seq_EPCs_Human0.89904982
68P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.89746053
69P300_27268052_Chip-Seq_Bcells_Human0.89692408
70OCT4_19829295_ChIP-Seq_ESCs_Human0.88981751
71TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.87620996
72HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.86769323
73FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.86618266
74LXR_22292898_ChIP-Seq_THP-1_Human0.86506455
75HOXB7_26014856_ChIP-Seq_BT474_Human0.86428790
76E2F1_17053090_ChIP-ChIP_MCF-7_Human0.86265619
77CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.83417816
78PRDM14_20953172_ChIP-Seq_ESCs_Human0.83069827
79TP53_18474530_ChIP-ChIP_U2OS_Human0.81713388
80FOXH1_21741376_ChIP-Seq_ESCs_Human0.81676680
81ESET_19884257_ChIP-Seq_ESCs_Mouse0.81653348
82RUNX1_27514584_Chip-Seq_MCF-7_Human0.80299459
83ELF5_23300383_ChIP-Seq_T47D_Human0.79868449
84P53_22127205_ChIP-Seq_FIBROBLAST_Human0.79401672
85SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.78246072
86TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.77978975
87KDM2B_26808549_Chip-Seq_DND41_Human0.77262694
88NANOG_19829295_ChIP-Seq_ESCs_Human0.76908407
89SOX2_19829295_ChIP-Seq_ESCs_Human0.76908407
90TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.76820365
91RXR_22108803_ChIP-Seq_LS180_Human0.76545230
92SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.76324572
93TP63_22573176_ChIP-Seq_HFKS_Human0.76101225
94RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.75364529
95TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.74831227
96P300_19829295_ChIP-Seq_ESCs_Human0.74812988
97RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.74379867
98AR_25329375_ChIP-Seq_VCAP_Human0.74251354
99GF1_26923725_Chip-Seq_HPCs_Mouse0.74237144
100CTCF_21964334_Chip-Seq_Bcells_Human0.73226654

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization7.67701248
2MP0003315_abnormal_perineum_morphology6.64241815
3MP0008004_abnormal_stomach_pH6.16721679
4MP0002160_abnormal_reproductive_system3.80379721
5MP0005360_urolithiasis3.50553806
6MP0010368_abnormal_lymphatic_system3.41028588
7MP0004084_abnormal_cardiac_muscle3.08392333
8MP0003698_abnormal_male_reproductive2.91723141
9MP0001929_abnormal_gametogenesis2.76510235
10MP0005058_abnormal_lysosome_morphology2.62810374
11MP0003045_fibrosis2.49273788
12MP0000537_abnormal_urethra_morphology2.41214328
13MP0002837_dystrophic_cardiac_calcinosis2.29548513
14MP0005647_abnormal_sex_gland2.16587682
15MP0003136_yellow_coat_color2.15722228
16MP0004036_abnormal_muscle_relaxation2.14706699
17MP0000751_myopathy2.10340650
18MP0001984_abnormal_olfaction2.01630489
19MP0001664_abnormal_digestion1.99816682
20MP0002132_abnormal_respiratory_system1.98849556
21MP0004215_abnormal_myocardial_fiber1.87265075
22MP0005187_abnormal_penis_morphology1.86321749
23MP0002210_abnormal_sex_determination1.84477488
24MP0005394_taste/olfaction_phenotype1.77158168
25MP0005499_abnormal_olfactory_system1.77158168
26MP0005389_reproductive_system_phenotype1.73810982
27MP0002127_abnormal_cardiovascular_syste1.71897762
28MP0010386_abnormal_urinary_bladder1.71198624
29MP0005409_darkened_coat_color1.66048288
30MP0001188_hyperpigmentation1.62558166
31MP0001145_abnormal_male_reproductive1.60599576
32MP0002161_abnormal_fertility/fecundity1.51745225
33MP0005330_cardiomyopathy1.48725662
34MP0000653_abnormal_sex_gland1.47294648
35MP0000538_abnormal_urinary_bladder1.47124257
36MP0004085_abnormal_heartbeat1.44473760
37MP0006072_abnormal_retinal_apoptosis1.42308782
38MP0004484_altered_response_of1.30682620
39MP0006036_abnormal_mitochondrial_physio1.28762455
40MP0008995_early_reproductive_senescence1.25131744
41MP0003718_maternal_effect1.24362406
42MP0005620_abnormal_muscle_contractility1.18969338
43MP0010630_abnormal_cardiac_muscle1.18493487
44MP0006138_congestive_heart_failure1.17039473
45MP0001661_extended_life_span1.15663312
46MP0005670_abnormal_white_adipose1.14171565
47MP0001544_abnormal_cardiovascular_syste1.13862766
48MP0005385_cardiovascular_system_phenoty1.13862766
49MP0001849_ear_inflammation1.10772579
50MP0004087_abnormal_muscle_fiber1.08056046
51MP0001905_abnormal_dopamine_level1.07897688
52MP0004272_abnormal_basement_membrane1.06149752
53MP0008775_abnormal_heart_ventricle1.04476421
54MP0000343_altered_response_to1.02159111
55MP0000749_muscle_degeneration1.01917820
56MP0003936_abnormal_reproductive_system1.00032326
57MP0002972_abnormal_cardiac_muscle0.99975787
58MP0000465_gastrointestinal_hemorrhage0.96657579
59MP0005395_other_phenotype0.89618346
60MP0005174_abnormal_tail_pigmentation0.88687570
61MP0001919_abnormal_reproductive_system0.87124439
62MP0009697_abnormal_copulation0.86757607
63MP0000747_muscle_weakness0.84783728
64MP0003646_muscle_fatigue0.82745976
65MP0005646_abnormal_pituitary_gland0.80932867
66MP0003137_abnormal_impulse_conducting0.78472341
67MP0000470_abnormal_stomach_morphology0.75119332
68MP0003632_abnormal_nervous_system0.74868350
69MP0001501_abnormal_sleep_pattern0.71295062
70MP0000678_abnormal_parathyroid_gland0.68202677
71MP0008789_abnormal_olfactory_epithelium0.63582890
72MP0001529_abnormal_vocalization0.62784840
73MP0002168_other_aberrant_phenotype0.62736521
74MP0002249_abnormal_larynx_morphology0.62508786
75MP0004381_abnormal_hair_follicle0.62480857
76MP0008877_abnormal_DNA_methylation0.61977024
77MP0002233_abnormal_nose_morphology0.61822148
78MP0000230_abnormal_systemic_arterial0.60012531
79MP0000462_abnormal_digestive_system0.58812504
80MP0005253_abnormal_eye_physiology0.58417419
81MP0006035_abnormal_mitochondrial_morpho0.58359400
82MP0003693_abnormal_embryo_hatching0.58227942
83MP0003631_nervous_system_phenotype0.56722351
84MP0000631_abnormal_neuroendocrine_gland0.53336938
85MP0002638_abnormal_pupillary_reflex0.53086246
86MP0001879_abnormal_lymphatic_vessel0.53050489
87MP0002108_abnormal_muscle_morphology0.52531640
88MP0009840_abnormal_foam_cell0.51872490
89MP0003879_abnormal_hair_cell0.51712312
90MP0005248_abnormal_Harderian_gland0.50014303
91MP0002269_muscular_atrophy0.47707663
92MP0000015_abnormal_ear_pigmentation0.45440543
93MP0002272_abnormal_nervous_system0.44087088
94MP0003868_abnormal_feces_composition0.44038287
95MP0003806_abnormal_nucleotide_metabolis0.43940765
96MP0008058_abnormal_DNA_repair0.42143419
97MP0002090_abnormal_vision0.42019149
98MP0003385_abnormal_body_wall0.41454047
99MP0005595_abnormal_vascular_smooth0.41361339
100MP0003699_abnormal_female_reproductive0.41193227

Predicted human phenotypes

RankGene SetZ-score
1Resting tremor (HP:0002322)7.36578589
2Sex reversal (HP:0012245)7.30822679
3Abnormal sex determination (HP:0012244)7.30822679
4Hypoplasia of the uterus (HP:0000013)6.92439343
5Ventricular fibrillation (HP:0001663)5.98111855
6Gonadal dysgenesis (HP:0000133)5.64542270
7Reduced antithrombin III activity (HP:0001976)5.40382294
8Abnormality of the columella (HP:0009929)5.24593936
9Aplasia/hypoplasia of the uterus (HP:0008684)5.08147834
10Respiratory insufficiency due to defective ciliary clearance (HP:0200073)4.99506971
11Facial hemangioma (HP:0000329)4.70501637
12Colitis (HP:0002583)4.58952328
13Syncope (HP:0001279)4.51802063
14Dynein arm defect of respiratory motile cilia (HP:0012255)4.49453736
15Absent/shortened dynein arms (HP:0200106)4.49453736
16Male pseudohermaphroditism (HP:0000037)4.42048007
17Abnormal respiratory motile cilium physiology (HP:0012261)4.35602566
18Germ cell neoplasia (HP:0100728)4.35335266
19Abnormal ciliary motility (HP:0012262)4.28139972
20Infertility (HP:0000789)4.19927182
21Postural instability (HP:0002172)4.15436934
22Thoracic kyphosis (HP:0002942)4.03255973
23Sudden death (HP:0001699)3.86099880
24Atrial fibrillation (HP:0005110)3.67030945
25Urinary urgency (HP:0000012)3.64358370
26Cerebellar dysplasia (HP:0007033)3.59604663
27Abnormality of the intrinsic pathway (HP:0010989)3.55527355
28Hyporeflexia of lower limbs (HP:0002600)3.49822968
29Self-mutilation (HP:0000742)3.40039940
30Prolonged QT interval (HP:0001657)3.36393035
31Bundle branch block (HP:0011710)3.35209030
32Capillary hemangiomas (HP:0005306)3.29117862
33Thoracolumbar scoliosis (HP:0002944)3.28206186
34Type II lissencephaly (HP:0007260)3.26406618
35Abnormal respiratory epithelium morphology (HP:0012253)3.23754292
36Abnormal respiratory motile cilium morphology (HP:0005938)3.23754292
37Primary atrial arrhythmia (HP:0001692)3.21360816
38Abnormality of the thoracic spine (HP:0100711)3.15005635
39Supraventricular tachycardia (HP:0004755)3.05620497
40Supraventricular arrhythmia (HP:0005115)2.95818116
41Retinal dysplasia (HP:0007973)2.94386450
42Abnormality of the lumbar spine (HP:0100712)2.89128242
43Protruding tongue (HP:0010808)2.86939427
44Inflammation of the large intestine (HP:0002037)2.86873852
45Centrally nucleated skeletal muscle fibers (HP:0003687)2.75161229
46Ventricular arrhythmia (HP:0004308)2.73647144
47Gastrointestinal inflammation (HP:0004386)2.70819352
48Retinal atrophy (HP:0001105)2.69016052
49Absent thumb (HP:0009777)2.65181697
50Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.61115542
51Unsteady gait (HP:0002317)2.57185156
52Sensory axonal neuropathy (HP:0003390)2.51704531
53Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.46440327
54Decreased activity of mitochondrial respiratory chain (HP:0008972)2.46440327
55Anterior segment dysgenesis (HP:0007700)2.40084215
56Facial diplegia (HP:0001349)2.33499028
57Rhinitis (HP:0012384)2.32605354
58Congenital sensorineural hearing impairment (HP:0008527)2.31132398
59Buphthalmos (HP:0000557)2.30713858
60Difficulty climbing stairs (HP:0003551)2.29156131
61Right ventricular cardiomyopathy (HP:0011663)2.28328481
62Nasal polyposis (HP:0100582)2.25205723
63Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.22110141
64Aortic aneurysm (HP:0004942)2.19544218
65Spinal rigidity (HP:0003306)2.18358185
66Exercise-induced myalgia (HP:0003738)2.16325301
67Abnormality of male internal genitalia (HP:0000022)2.16109177
68Abnormality of the nasal mucosa (HP:0000433)2.15426925
69Abnormal EKG (HP:0003115)2.14982045
70Occipital encephalocele (HP:0002085)2.13698019
71Heart block (HP:0012722)2.10914242
72Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.08939586
73Inability to walk (HP:0002540)2.08512530
74Myoglobinuria (HP:0002913)2.08385661
75Abnormality of the frontal sinuses (HP:0002687)2.07677445
76Atonic seizures (HP:0010819)2.04998815
77Rhabdomyolysis (HP:0003201)2.04016535
78Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.01475118
79Absent rod-and cone-mediated responses on ERG (HP:0007688)2.01289980
80Hypothermia (HP:0002045)2.01289132
81Lipoatrophy (HP:0100578)1.92695910
82Abnormality of the calf musculature (HP:0001430)1.90624524
83Abnormal atrioventricular conduction (HP:0005150)1.89443533
84Aplasia cutis congenita (HP:0001057)1.88527633
85Dilated cardiomyopathy (HP:0001644)1.86943166
86Muscular dystrophy (HP:0003560)1.84640376
87Ragged-red muscle fibers (HP:0003200)1.82917757
88High anterior hairline (HP:0009890)1.80430253
89EMG: myopathic abnormalities (HP:0003458)1.79510705
90Abnormal protein glycosylation (HP:0012346)1.78998929
91Abnormal glycosylation (HP:0012345)1.78998929
92Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.78998929
93Abnormal protein N-linked glycosylation (HP:0012347)1.78998929
94Polyneuropathy (HP:0001271)1.77211042
95Generalized hypotonia (HP:0001290)1.74471053
96Intellectual disability, progressive (HP:0006887)1.73410924
97Chronic bronchitis (HP:0004469)1.73323078
98Calf muscle hypertrophy (HP:0008981)1.72128584
99High pitched voice (HP:0001620)1.71369182
100Flattened epiphyses (HP:0003071)1.68389979

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK36.41691583
2MYLK4.73840711
3TLK13.55954004
4ZAK3.44200954
5RPS6KA52.75863733
6NEK22.34712298
7PINK111.6336592
8LATS11.81036328
9STK381.44720240
10OBSCN1.22150370
11STK38L1.11366696
12MUSK1.09514368
13CDK31.07212404
14CDC42BPA1.03587593
15SGK4941.02825878
16SGK2231.02825878
17MAP2K71.01627837
18LATS21.00832715
19ARAF0.94555012
20MAPK150.89348165
21DYRK30.84476061
22MAP3K90.80479598
23CSNK1A1L0.79370433
24PRKCQ0.78062147
25MST1R0.75296024
26TTN0.75254096
27MAP3K10.71555511
28MELK0.67941826
29TIE10.65953745
30MAP3K50.65046708
31VRK10.64699924
32CDK140.63445324
33PKN10.61706307
34MAP3K130.60127773
35CSNK1G30.59365866
36EEF2K0.58725197
37EIF2AK30.57702895
38TRIB30.57090408
39STK40.57066269
40CDK120.57035820
41PAK20.56912842
42DAPK30.56639504
43ROCK10.53547378
44ICK0.52228642
45CLK10.51926208
46BMPR1B0.50573795
47PAK10.50537686
48RET0.49048682
49RPS6KB10.48971323
50CAMK10.47741226
51CSNK1G10.45656937
52MTOR0.44869660
53FGR0.44717920
54PRKD30.44279819
55PKN20.42267485
56CSNK1G20.41939077
57MAPK120.41166543
58FRK0.40989275
59ATM0.40817845
60PDPK10.39700358
61DYRK20.39554605
62EGFR0.38978440
63MAP3K100.37778781
64AKT20.37456392
65PRKG20.36678946
66CDK50.36143077
67RPS6KA10.35817134
68PAK30.35507349
69PRKG10.34578451
70TGFBR10.31469913
71CDK80.29411239
72BRAF0.28824013
73FGFR20.27833283
74ILK0.27455454
75WNK10.24803914
76NME20.24758253
77AURKB0.24275362
78PRKAA10.22505634
79RPS6KA30.22452628
80TAOK10.22386564
81PDK10.20501167
82SGK20.17924622
83KSR20.17664130
84CCNB10.17460914
85IRAK20.17237506
86MAPK10.15707704
87PBK0.15283092
88AURKA0.15087886
89CAMK40.14455605
90PIK3CA0.13616722
91CSNK1A10.13325448
92STK30.12533295
93PLK10.12471823
94MAPKAPK30.11907128
95LMTK20.11853151
96ACVR1B0.10809961
97PRKD10.08750333
98CAMK2D0.08360047
99GRK60.06835933
100RPS6KC10.06283047

Predicted pathways (KEGG)

RankGene SetZ-score
1* Pathogenic Escherichia coli infection_Homo sapiens_hsa051305.62179103
2* Gap junction_Homo sapiens_hsa045404.24909440
3Hedgehog signaling pathway_Homo sapiens_hsa043403.50347526
4Systemic lupus erythematosus_Homo sapiens_hsa053223.30226365
5Arginine biosynthesis_Homo sapiens_hsa002203.17492221
6Nitrogen metabolism_Homo sapiens_hsa009102.95467144
7Propanoate metabolism_Homo sapiens_hsa006402.82609651
8Alcoholism_Homo sapiens_hsa050342.52043713
9Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.33667279
10Olfactory transduction_Homo sapiens_hsa047402.30677162
11Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.19643706
12Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.16050527
13Pyruvate metabolism_Homo sapiens_hsa006202.08128675
14* Apoptosis_Homo sapiens_hsa042101.93399342
15* Phagosome_Homo sapiens_hsa041451.71329158
16Phenylalanine metabolism_Homo sapiens_hsa003601.71317245
17Dilated cardiomyopathy_Homo sapiens_hsa054141.67159064
18Butanoate metabolism_Homo sapiens_hsa006501.66699796
19Dorso-ventral axis formation_Homo sapiens_hsa043201.64491072
20Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.60595781
21cGMP-PKG signaling pathway_Homo sapiens_hsa040221.49006774
22Vascular smooth muscle contraction_Homo sapiens_hsa042701.48593202
23Glutathione metabolism_Homo sapiens_hsa004801.45246058
24Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.44274622
25Oocyte meiosis_Homo sapiens_hsa041141.41332908
26Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.38943844
27Cysteine and methionine metabolism_Homo sapiens_hsa002701.38785835
28Glucagon signaling pathway_Homo sapiens_hsa049221.32250171
29Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.32199650
30Steroid hormone biosynthesis_Homo sapiens_hsa001401.27811053
31Renin secretion_Homo sapiens_hsa049241.21156774
32PPAR signaling pathway_Homo sapiens_hsa033201.16673838
33Circadian rhythm_Homo sapiens_hsa047101.16031163
34Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.14588614
35Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.11961556
36Taste transduction_Homo sapiens_hsa047420.98204775
37Oxytocin signaling pathway_Homo sapiens_hsa049210.96624157
38mRNA surveillance pathway_Homo sapiens_hsa030150.95068487
39Tyrosine metabolism_Homo sapiens_hsa003500.91937067
40Chemical carcinogenesis_Homo sapiens_hsa052040.88252457
41Regulation of autophagy_Homo sapiens_hsa041400.86130240
42Fatty acid degradation_Homo sapiens_hsa000710.85757617
43Basal transcription factors_Homo sapiens_hsa030220.82148435
44Cardiac muscle contraction_Homo sapiens_hsa042600.82098646
45Fatty acid biosynthesis_Homo sapiens_hsa000610.79579035
46Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.79531825
47Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.73206841
48Longevity regulating pathway - mammal_Homo sapiens_hsa042110.71692973
49Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.71059234
50Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.70092373
51Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.65538527
52Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.65042421
53Pentose phosphate pathway_Homo sapiens_hsa000300.64725064
54Tryptophan metabolism_Homo sapiens_hsa003800.64671478
55Gastric acid secretion_Homo sapiens_hsa049710.64438463
56Fanconi anemia pathway_Homo sapiens_hsa034600.63914122
57Glycerophospholipid metabolism_Homo sapiens_hsa005640.62761948
58Calcium signaling pathway_Homo sapiens_hsa040200.62111837
59beta-Alanine metabolism_Homo sapiens_hsa004100.60192759
60Carbon metabolism_Homo sapiens_hsa012000.58839699
61Transcriptional misregulation in cancer_Homo sapiens_hsa052020.58812092
62Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.58766493
63Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.54256845
64Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.53429538
65Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.51348120
66DNA replication_Homo sapiens_hsa030300.48050093
67Purine metabolism_Homo sapiens_hsa002300.47917865
68Endometrial cancer_Homo sapiens_hsa052130.47234882
69Circadian entrainment_Homo sapiens_hsa047130.46207881
70TGF-beta signaling pathway_Homo sapiens_hsa043500.46068527
71Fatty acid metabolism_Homo sapiens_hsa012120.45630616
72mTOR signaling pathway_Homo sapiens_hsa041500.44741537
73AMPK signaling pathway_Homo sapiens_hsa041520.44240067
74Arginine and proline metabolism_Homo sapiens_hsa003300.41032264
75Choline metabolism in cancer_Homo sapiens_hsa052310.40424845
76Wnt signaling pathway_Homo sapiens_hsa043100.40111752
77RNA transport_Homo sapiens_hsa030130.38220836
78Ovarian steroidogenesis_Homo sapiens_hsa049130.36495702
79Prostate cancer_Homo sapiens_hsa052150.34867667
80Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.34216193
81Estrogen signaling pathway_Homo sapiens_hsa049150.32805232
82N-Glycan biosynthesis_Homo sapiens_hsa005100.32048108
83Phosphatidylinositol signaling system_Homo sapiens_hsa040700.29371440
84RNA degradation_Homo sapiens_hsa030180.28951912
85Long-term potentiation_Homo sapiens_hsa047200.27326410
86Metabolic pathways_Homo sapiens_hsa011000.27012577
87cAMP signaling pathway_Homo sapiens_hsa040240.26402957
88Insulin signaling pathway_Homo sapiens_hsa049100.25164574
89ECM-receptor interaction_Homo sapiens_hsa045120.24380899
90GABAergic synapse_Homo sapiens_hsa047270.24151899
91Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.24004221
92MAPK signaling pathway_Homo sapiens_hsa040100.23485569
93Focal adhesion_Homo sapiens_hsa045100.22001970
94Aldosterone synthesis and secretion_Homo sapiens_hsa049250.21544720
95Melanoma_Homo sapiens_hsa052180.21355771
96Amphetamine addiction_Homo sapiens_hsa050310.20466479
97Sulfur relay system_Homo sapiens_hsa041220.18191820
98Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.18000038
99Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.16324831
100Sphingolipid signaling pathway_Homo sapiens_hsa040710.16013667

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