TUBA3E

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: Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. This gene encodes an alpha tubulin that highly conserved among species. A missense mutation in this gene has been potentially linked to microlissencephaly and global developmental delay. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1male meiosis (GO:0007140)9.95131397
2regulation of phosphoprotein phosphatase activity (GO:0043666)9.26647148
3positive regulation of synaptic transmission, dopaminergic (GO:0032226)9.18306031
4positive regulation of catecholamine secretion (GO:0033605)9.00454020
5acrosome reaction (GO:0007340)8.05208249
6spermatid development (GO:0007286)7.73735727
7synapsis (GO:0007129)7.39724662
8binding of sperm to zona pellucida (GO:0007339)7.11285937
9multicellular organism reproduction (GO:0032504)6.84014374
10potassium ion export (GO:0071435)6.83808495
11sperm motility (GO:0030317)6.70113624
12motile cilium assembly (GO:0044458)6.54254625
13regulation of oxidative stress-induced neuron death (GO:1903203)6.54179014
14relaxation of smooth muscle (GO:0044557)6.01496924
15regulation of oxidative phosphorylation (GO:0002082)5.97150843
16chromosome organization involved in meiosis (GO:0070192)5.79888673
17negative regulation of cardiac muscle cell apoptotic process (GO:0010667)5.68308047
18sperm-egg recognition (GO:0035036)5.57724457
19cGMP-mediated signaling (GO:0019934)5.43261118
20protein-DNA complex disassembly (GO:0032986)5.41185551
21nucleosome disassembly (GO:0006337)5.41185551
22piRNA metabolic process (GO:0034587)5.19807789
23axonemal dynein complex assembly (GO:0070286)5.07193093
24synaptonemal complex assembly (GO:0007130)5.00132656
25activation of protein kinase B activity (GO:0032148)4.92844547
26male sex determination (GO:0030238)4.90740603
27organic cation transport (GO:0015695)4.89772440
28cell-cell recognition (GO:0009988)4.83478603
29meiotic nuclear division (GO:0007126)4.79275235
30Leydig cell differentiation (GO:0033327)4.79014661
31reproduction (GO:0000003)4.75777661
32regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.72731126
33germ cell development (GO:0007281)4.72168201
34TOR signaling (GO:0031929)4.70611195
35epithelial cilium movement (GO:0003351)4.70282191
36aspartate family amino acid catabolic process (GO:0009068)4.68374882
37polyamine biosynthetic process (GO:0006596)4.68054346
38synaptonemal complex organization (GO:0070193)4.68031169
39cilium or flagellum-dependent cell motility (GO:0001539)4.65720983
40regulation of autophagic vacuole assembly (GO:2000785)4.65709187
41negative regulation of hydrogen peroxide-induced cell death (GO:1903206)4.64723384
42glycogen metabolic process (GO:0005977)4.62592456
43single fertilization (GO:0007338)4.59066008
44histone H3-K9 demethylation (GO:0033169)4.58987081
45cellular glucan metabolic process (GO:0006073)4.56557507
46glucan metabolic process (GO:0044042)4.56557507
47histone exchange (GO:0043486)4.48246568
48glutamine family amino acid catabolic process (GO:0009065)4.46234801
49regulation of hydrogen peroxide-induced cell death (GO:1903205)4.37287565
50regulation of dopamine secretion (GO:0014059)4.31596593
51negative regulation of response to reactive oxygen species (GO:1901032)4.23500702
52regulation of cellular respiration (GO:0043457)4.18623382
53coenzyme catabolic process (GO:0009109)4.08767636
54mitochondrion degradation (GO:0000422)4.03646371
55DNA double-strand break processing (GO:0000729)4.03351992
56ventricular cardiac muscle cell action potential (GO:0086005)4.01489134
57acrosome assembly (GO:0001675)3.95599823
58tongue development (GO:0043586)3.92609261
59regulation of vacuole organization (GO:0044088)3.91308365
60positive regulation of glycolytic process (GO:0045821)3.88392433
61membrane repolarization during action potential (GO:0086011)3.85227274
62negative regulation of striated muscle cell apoptotic process (GO:0010664)3.84540627
63oogenesis (GO:0048477)3.83848459
64cellular process involved in reproduction in multicellular organism (GO:0022412)3.79323082
65androgen biosynthetic process (GO:0006702)3.79208236
66membrane repolarization (GO:0086009)3.76454609
67regulation of meiosis I (GO:0060631)3.76382597
68DNA methylation involved in gamete generation (GO:0043046)3.71657121
69cilium movement (GO:0003341)3.70418650
70ventricular system development (GO:0021591)3.68268085
71response to acidic pH (GO:0010447)3.61324695
72calcium ion-dependent exocytosis (GO:0017156)3.61062575
73dicarboxylic acid biosynthetic process (GO:0043650)3.57260011
74fertilization (GO:0009566)3.56812100
75diacylglycerol metabolic process (GO:0046339)3.51781996
76fusion of sperm to egg plasma membrane (GO:0007342)3.50157999
77DNA synthesis involved in DNA repair (GO:0000731)3.48671284
78cellular response to toxic substance (GO:0097237)3.45790123
79carnitine shuttle (GO:0006853)3.41805828
80negative regulation of inclusion body assembly (GO:0090084)3.40776093
81regulation of synaptic transmission, dopaminergic (GO:0032225)3.33187842
82regulation of phosphatase activity (GO:0010921)3.31964629
83negative regulation of JNK cascade (GO:0046329)3.26773784
84regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.26304963
85positive regulation of amine transport (GO:0051954)3.22658997
86cellular biogenic amine biosynthetic process (GO:0042401)3.21202116
87amine biosynthetic process (GO:0009309)3.19334108
88relaxation of muscle (GO:0090075)3.19036114
89positive regulation of meiotic cell cycle (GO:0051446)3.12918975
90sarcomere organization (GO:0045214)3.12698140
91regulation of membrane repolarization (GO:0060306)3.12676620
92regulation of protein kinase C signaling (GO:0090036)3.12177457
93negative regulation of reactive oxygen species metabolic process (GO:2000378)3.09028036
94oligosaccharide biosynthetic process (GO:0009312)3.08367429
95male meiosis I (GO:0007141)3.06071929
96cellular polysaccharide metabolic process (GO:0044264)3.06047175
97amino-acid betaine transport (GO:0015838)3.05679304
98carnitine transport (GO:0015879)3.05679304
99negative regulation of smooth muscle contraction (GO:0045986)3.00674951
100carnitine transmembrane transport (GO:1902603)2.96020337

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse9.57360753
2BP1_19119308_ChIP-ChIP_Hs578T_Human8.73670856
3IGF1R_20145208_ChIP-Seq_DFB_Human5.39784256
4ESR1_20079471_ChIP-ChIP_T-47D_Human4.70927032
5EZH2_22144423_ChIP-Seq_EOC_Human3.48620922
6VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human3.02918302
7TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.02669307
8ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.55767113
9CTBP2_25329375_ChIP-Seq_LNCAP_Human2.24639862
10AHR_22903824_ChIP-Seq_MCF-7_Human2.22564346
11HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.13376456
12ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.02838242
13ARNT_22903824_ChIP-Seq_MCF-7_Human2.02499240
14VDR_22108803_ChIP-Seq_LS180_Human1.97926913
15E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.96413765
16PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.92968977
17FUS_26573619_Chip-Seq_HEK293_Human1.86875151
18ER_23166858_ChIP-Seq_MCF-7_Human1.80858658
19CTBP1_25329375_ChIP-Seq_LNCAP_Human1.78670763
20NANOG_20526341_ChIP-Seq_ESCs_Human1.75788109
21BCAT_22108803_ChIP-Seq_LS180_Human1.75036148
22AR_21572438_ChIP-Seq_LNCaP_Human1.74726520
23POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.73893524
24TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.73893524
25MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.73883764
26GBX2_23144817_ChIP-Seq_PC3_Human1.72926851
27ERA_21632823_ChIP-Seq_H3396_Human1.59081749
28OCT4_20526341_ChIP-Seq_ESCs_Human1.57811436
29GATA1_22025678_ChIP-Seq_K562_Human1.57619613
30RAC3_21632823_ChIP-Seq_H3396_Human1.54517443
31CTCF_27219007_Chip-Seq_Bcells_Human1.49453757
32SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.47325534
33SMC4_20622854_ChIP-Seq_HELA_Human1.45959878
34OCT1_27270436_Chip-Seq_PROSTATE_Human1.40865259
35KLF5_20875108_ChIP-Seq_MESCs_Mouse1.37611050
36ZNF263_19887448_ChIP-Seq_K562_Human1.37374493
37UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.35442748
38IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.34286734
39CBP_20019798_ChIP-Seq_JUKART_Human1.34286734
40EP300_21415370_ChIP-Seq_HL-1_Mouse1.32386352
41WDR5_24793694_ChIP-Seq_LNCAP_Human1.26432537
42SMAD3_21741376_ChIP-Seq_EPCs_Human1.24895307
43CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.24010849
44RUNX2_22187159_ChIP-Seq_PCA_Human1.23499445
45PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.22460181
46MYC_19829295_ChIP-Seq_ESCs_Human1.21923176
47TBL1_22424771_ChIP-Seq_293T_Human1.21907102
48SMAD4_21799915_ChIP-Seq_A2780_Human1.21305596
49CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.20438771
50SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.18043544
51PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.11413595
52P300_19829295_ChIP-Seq_ESCs_Human1.10070142
53SMAD4_21741376_ChIP-Seq_EPCs_Human1.08031220
54HOXB7_26014856_ChIP-Seq_BT474_Human1.07598824
55RXR_22108803_ChIP-Seq_LS180_Human1.05280733
56PRDM14_20953172_ChIP-Seq_ESCs_Human1.03982811
57CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.01453762
58NANOG_19829295_ChIP-Seq_ESCs_Human1.01106208
59SOX2_19829295_ChIP-Seq_ESCs_Human1.01106208
60RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.99912522
61RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.99356937
62ERG_20517297_ChIP-Seq_VCAP_Human0.98903640
63AUTS2_25519132_ChIP-Seq_293T-REX_Human0.97900927
64AR_25329375_ChIP-Seq_VCAP_Human0.97784238
65GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96953181
66TOP2B_26459242_ChIP-Seq_MCF-7_Human0.96479335
67FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.95991404
68STAT3_23295773_ChIP-Seq_U87_Human0.94727657
69SPI1_20517297_ChIP-Seq_HL60_Human0.94395611
70ESET_19884257_ChIP-Seq_ESCs_Mouse0.92655231
71EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.92564389
72E2F1_17053090_ChIP-ChIP_MCF-7_Human0.91903557
73TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.91539828
74CTCF_20526341_ChIP-Seq_ESCs_Human0.91503197
75TP53_18474530_ChIP-ChIP_U2OS_Human0.91493089
76MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.89938045
77PKCTHETA_26484144_Chip-Seq_BREAST_Human0.86849175
78RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.86661379
79RAD21_21589869_ChIP-Seq_MESCs_Mouse0.86285324
80TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.86269356
81P300_27268052_Chip-Seq_Bcells_Human0.85447054
82P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.85435305
83TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.85210504
84P53_22127205_ChIP-Seq_FIBROBLAST_Human0.85039087
85FOXH1_21741376_ChIP-Seq_EPCs_Human0.84883860
86MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.84843377
87SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.83207294
88EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.81824004
89FOXH1_21741376_ChIP-Seq_ESCs_Human0.80539402
90ELF5_23300383_ChIP-Seq_T47D_Human0.80342615
91EED_16625203_ChIP-ChIP_MESCs_Mouse0.79692321
92MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.79324310
93OCT4_19829295_ChIP-Seq_ESCs_Human0.79280816
94GF1_26923725_Chip-Seq_HPCs_Mouse0.77962644
95GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.77791064
96GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.76844607
97STAT1_17558387_ChIP-Seq_HELA_Human0.75960073
98RUNX1_27514584_Chip-Seq_MCF-7_Human0.74982219
99CBP_21632823_ChIP-Seq_H3396_Human0.74960010
100GATA3_21878914_ChIP-Seq_MCF-7_Human0.74683972

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization7.66992804
2MP0008004_abnormal_stomach_pH6.07751689
3MP0003315_abnormal_perineum_morphology5.71511926
4MP0002160_abnormal_reproductive_system3.75682108
5MP0004084_abnormal_cardiac_muscle3.71208152
6MP0002837_dystrophic_cardiac_calcinosis3.30628795
7MP0003698_abnormal_male_reproductive2.99053829
8MP0001929_abnormal_gametogenesis2.94978139
9MP0005360_urolithiasis2.89565801
10MP0010368_abnormal_lymphatic_system2.68888679
11MP0004215_abnormal_myocardial_fiber2.59821675
12MP0003136_yellow_coat_color2.57821784
13MP0004036_abnormal_muscle_relaxation2.45344291
14MP0000751_myopathy2.41771820
15MP0003045_fibrosis2.22393563
16MP0001984_abnormal_olfaction2.10332729
17MP0002210_abnormal_sex_determination2.07756928
18MP0005330_cardiomyopathy1.99444566
19MP0005058_abnormal_lysosome_morphology1.97422617
20MP0002127_abnormal_cardiovascular_syste1.95107755
21MP0002132_abnormal_respiratory_system1.91019215
22MP0001664_abnormal_digestion1.86982150
23MP0005647_abnormal_sex_gland1.80862437
24MP0004484_altered_response_of1.76176751
25MP0001145_abnormal_male_reproductive1.70045288
26MP0004085_abnormal_heartbeat1.69735684
27MP0006072_abnormal_retinal_apoptosis1.67967201
28MP0005389_reproductive_system_phenotype1.63600478
29MP0000653_abnormal_sex_gland1.54292360
30MP0003646_muscle_fatigue1.52672079
31MP0002161_abnormal_fertility/fecundity1.52523823
32MP0000537_abnormal_urethra_morphology1.51344734
33MP0005187_abnormal_penis_morphology1.49902967
34MP0010386_abnormal_urinary_bladder1.41705349
35MP0005499_abnormal_olfactory_system1.40484560
36MP0005394_taste/olfaction_phenotype1.40484560
37MP0001544_abnormal_cardiovascular_syste1.39834466
38MP0005385_cardiovascular_system_phenoty1.39834466
39MP0005620_abnormal_muscle_contractility1.38376988
40MP0000749_muscle_degeneration1.35901148
41MP0002972_abnormal_cardiac_muscle1.35623477
42MP0006036_abnormal_mitochondrial_physio1.35403453
43MP0010630_abnormal_cardiac_muscle1.34004719
44MP0008995_early_reproductive_senescence1.30991558
45MP0005409_darkened_coat_color1.29532238
46MP0004087_abnormal_muscle_fiber1.28333891
47MP0008775_abnormal_heart_ventricle1.26955784
48MP0003137_abnormal_impulse_conducting1.25516795
49MP0000538_abnormal_urinary_bladder1.24332838
50MP0005670_abnormal_white_adipose1.24111552
51MP0006138_congestive_heart_failure1.21073882
52MP0001188_hyperpigmentation1.18308400
53MP0008877_abnormal_DNA_methylation1.10621342
54MP0003936_abnormal_reproductive_system1.07101396
55MP0001661_extended_life_span1.00816592
56MP0008058_abnormal_DNA_repair1.00760890
57MP0003718_maternal_effect0.97076413
58MP0004272_abnormal_basement_membrane0.96222796
59MP0000747_muscle_weakness0.94844150
60MP0000343_altered_response_to0.94445326
61MP0004381_abnormal_hair_follicle0.91600833
62MP0004510_myositis0.88253757
63MP0005253_abnormal_eye_physiology0.88174991
64MP0001501_abnormal_sleep_pattern0.87910148
65MP0001905_abnormal_dopamine_level0.86162312
66MP0005174_abnormal_tail_pigmentation0.85015050
67MP0000678_abnormal_parathyroid_gland0.84686138
68MP0000470_abnormal_stomach_morphology0.79780341
69MP0000465_gastrointestinal_hemorrhage0.78200455
70MP0000230_abnormal_systemic_arterial0.76419104
71MP0005646_abnormal_pituitary_gland0.72921314
72MP0001529_abnormal_vocalization0.72138328
73MP0005395_other_phenotype0.70299310
74MP0003693_abnormal_embryo_hatching0.69237928
75MP0000631_abnormal_neuroendocrine_gland0.65459880
76MP0001919_abnormal_reproductive_system0.64947179
77MP0009697_abnormal_copulation0.63295478
78MP0002269_muscular_atrophy0.63158870
79MP0003828_pulmonary_edema0.61901324
80MP0002168_other_aberrant_phenotype0.53505009
81MP0002272_abnormal_nervous_system0.53158379
82MP0009840_abnormal_foam_cell0.53106511
83MP0003632_abnormal_nervous_system0.52861583
84MP0002249_abnormal_larynx_morphology0.52634669
85MP0003806_abnormal_nucleotide_metabolis0.52604131
86MP0002108_abnormal_muscle_morphology0.50922888
87MP0002233_abnormal_nose_morphology0.50581955
88MP0003868_abnormal_feces_composition0.49786230
89MP0002102_abnormal_ear_morphology0.49713749
90MP0002106_abnormal_muscle_physiology0.48546518
91MP0005369_muscle_phenotype0.47885198
92MP0001849_ear_inflammation0.47584801
93MP0005165_increased_susceptibility_to0.46747371
94MP0010094_abnormal_chromosome_stability0.46368436
95MP0001764_abnormal_homeostasis0.45149132
96MP0000462_abnormal_digestive_system0.44088659
97MP0003699_abnormal_female_reproductive0.43999373
98MP0006035_abnormal_mitochondrial_morpho0.43897084
99MP0002090_abnormal_vision0.43267187
100MP0004264_abnormal_extraembryonic_tissu0.43209303

Predicted human phenotypes

RankGene SetZ-score
1Resting tremor (HP:0002322)7.00756314
2Sex reversal (HP:0012245)6.72775741
3Abnormal sex determination (HP:0012244)6.72775741
4Ventricular fibrillation (HP:0001663)6.30872786
5Hypoplasia of the uterus (HP:0000013)6.02330487
6Gonadal dysgenesis (HP:0000133)5.18121326
7Respiratory insufficiency due to defective ciliary clearance (HP:0200073)4.98747372
8Syncope (HP:0001279)4.97135372
9Reduced antithrombin III activity (HP:0001976)4.92923288
10Sudden death (HP:0001699)4.87750297
11Abnormality of the columella (HP:0009929)4.52532027
12Bundle branch block (HP:0011710)4.44569039
13Absent/shortened dynein arms (HP:0200106)4.41694984
14Dynein arm defect of respiratory motile cilia (HP:0012255)4.41694984
15Aplasia/hypoplasia of the uterus (HP:0008684)4.40609267
16Atrial fibrillation (HP:0005110)4.37724313
17Abnormal respiratory motile cilium physiology (HP:0012261)4.31548020
18Abnormal ciliary motility (HP:0012262)4.23174152
19Facial hemangioma (HP:0000329)4.14169685
20Hyporeflexia of lower limbs (HP:0002600)4.10444183
21Male pseudohermaphroditism (HP:0000037)3.99991487
22Colitis (HP:0002583)3.88414973
23Primary atrial arrhythmia (HP:0001692)3.88297316
24Infertility (HP:0000789)3.76986922
25Germ cell neoplasia (HP:0100728)3.71546790
26Supraventricular tachycardia (HP:0004755)3.71155149
27Postural instability (HP:0002172)3.70812340
28Supraventricular arrhythmia (HP:0005115)3.58930890
29Cerebellar dysplasia (HP:0007033)3.56463328
30Prolonged QT interval (HP:0001657)3.40922891
31Type II lissencephaly (HP:0007260)3.34939860
32Urinary urgency (HP:0000012)3.33527305
33Abnormal respiratory epithelium morphology (HP:0012253)3.19032998
34Abnormal respiratory motile cilium morphology (HP:0005938)3.19032998
35Thoracic kyphosis (HP:0002942)3.18985149
36Ventricular arrhythmia (HP:0004308)3.18685710
37Abnormality of the intrinsic pathway (HP:0010989)3.15549928
38Right ventricular cardiomyopathy (HP:0011663)2.97295301
39Thoracolumbar scoliosis (HP:0002944)2.82211856
40Heart block (HP:0012722)2.82188922
41Capillary hemangiomas (HP:0005306)2.79528950
42Retinal dysplasia (HP:0007973)2.76478580
43Absent thumb (HP:0009777)2.67952304
44Sensory axonal neuropathy (HP:0003390)2.67464206
45Congenital sensorineural hearing impairment (HP:0008527)2.65596612
46Centrally nucleated skeletal muscle fibers (HP:0003687)2.63088964
47Self-mutilation (HP:0000742)2.60702435
48Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.58523849
49Lipoatrophy (HP:0100578)2.58342151
50Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.56833921
51Abnormal atrioventricular conduction (HP:0005150)2.54180098
52Abnormality of the calf musculature (HP:0001430)2.53243522
53Abnormality of the thoracic spine (HP:0100711)2.50257418
54Unsteady gait (HP:0002317)2.46004041
55Protruding tongue (HP:0010808)2.45784163
56Abnormality of the lumbar spine (HP:0100712)2.43407540
57Inflammation of the large intestine (HP:0002037)2.42745844
58Abnormality of the frontal sinuses (HP:0002687)2.41156717
59Anterior segment dysgenesis (HP:0007700)2.40945423
60Decreased activity of mitochondrial respiratory chain (HP:0008972)2.38673334
61Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.38673334
62Retinal atrophy (HP:0001105)2.38474176
63Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.35418159
64Myoglobinuria (HP:0002913)2.34303549
65Rhinitis (HP:0012384)2.34002662
66Atonic seizures (HP:0010819)2.33331789
67Ventricular tachycardia (HP:0004756)2.33241963
68Dilated cardiomyopathy (HP:0001644)2.32094357
69Abnormal EKG (HP:0003115)2.31373674
70Atrioventricular block (HP:0001678)2.31082610
71Abnormality of lateral ventricle (HP:0030047)2.27243981
72Palpitations (HP:0001962)2.26892664
73Gastrointestinal inflammation (HP:0004386)2.24170278
74EMG: myopathic abnormalities (HP:0003458)2.19255365
75Calf muscle hypertrophy (HP:0008981)2.18526472
76Nasal polyposis (HP:0100582)2.18303963
77Median cleft lip (HP:0000161)2.18293711
78Facial diplegia (HP:0001349)2.16016875
79Exercise-induced myalgia (HP:0003738)2.10512945
80Optic nerve hypoplasia (HP:0000609)2.09047187
81Abnormality of the nasal mucosa (HP:0000433)2.05828120
82Rhabdomyolysis (HP:0003201)2.05713892
83Asymmetric septal hypertrophy (HP:0001670)2.03345237
84Aplasia cutis congenita (HP:0001057)1.99173576
85Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.98833449
86Ragged-red muscle fibers (HP:0003200)1.95112594
87Difficulty climbing stairs (HP:0003551)1.94404913
88Lipid accumulation in hepatocytes (HP:0006561)1.93909834
89Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.93041756
90Abnormal protein N-linked glycosylation (HP:0012347)1.93041756
91Abnormal protein glycosylation (HP:0012346)1.93041756
92Abnormal glycosylation (HP:0012345)1.93041756
93Muscular dystrophy (HP:0003560)1.91271159
94Muscle fiber splitting (HP:0003555)1.89486153
95Buphthalmos (HP:0000557)1.88750415
96Chronic bronchitis (HP:0004469)1.86504195
97Aplasia/Hypoplasia of the uvula (HP:0010293)1.86254657
98Muscle hypertrophy of the lower extremities (HP:0008968)1.86124545
99Spinal rigidity (HP:0003306)1.83649229
100Abnormality of the ileum (HP:0001549)1.80158622

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK36.05206834
2MYLK5.00830684
3ZAK3.85847353
4TLK13.41943757
5RPS6KA52.71913798
6NEK22.15625029
7PINK111.4826937
8LATS11.99319045
9OBSCN1.67399260
10STK381.59527810
11STK38L1.48792817
12MUSK1.26684728
13CDK31.13432016
14MAP2K71.00916880
15LATS20.97346438
16SGK2230.96467223
17SGK4940.96467223
18MAPK150.91993743
19CDC42BPA0.90177305
20TTN0.87853431
21ROCK10.76068687
22CDK120.75274217
23VRK10.75080158
24DYRK30.73426930
25MAP3K90.72544441
26STK40.70584076
27PRKCQ0.70176568
28PLK40.65662626
29MELK0.64822928
30TIE10.63644969
31CDK140.63025750
32PKN10.62714565
33BMPR1B0.62200773
34MST1R0.61824625
35ARAF0.61167577
36MAP3K50.59211907
37CSNK1A1L0.58660252
38FRK0.57406695
39CAMK10.56000288
40EIF2AK30.55338146
41PAK30.53450567
42CSNK1G30.49248395
43IRAK20.48928075
44PIK3CA0.48579157
45FGR0.45505495
46RET0.45471952
47DAPK30.45014413
48RPS6KB10.44957948
49CSNK1G10.44260720
50PAK10.44084527
51ICK0.42753054
52AKT20.42100961
53ATM0.42072928
54PDPK10.41707012
55PAK20.40798250
56GRK10.39915102
57CDK50.39235048
58MAP3K10.39195146
59MAPK120.36565093
60PRKG10.35606059
61RPS6KA10.34396269
62CSNK1G20.34249667
63DYRK20.33843749
64PRKAA10.33449893
65PBK0.32686051
66EGFR0.32579425
67CAMK2D0.30277019
68TGFBR10.29757893
69AURKB0.29548409
70STK30.27391282
71TRPM70.27100760
72MAP3K30.26826381
73PLK10.26820430
74MTOR0.26814563
75SGK20.26724091
76MAPKAPK30.25750504
77CDK190.25084266
78MAP3K130.23256766
79EEF2K0.23001864
80PTK2B0.21954733
81AURKA0.21811573
82RPS6KA30.21607953
83PRKG20.21605071
84PDK10.21470975
85NLK0.21204477
86PRKD30.21175424
87PKN20.20518257
88DMPK0.19967237
89NME20.19333822
90MET0.19245651
91TGFBR20.18925981
92CDK80.18841894
93BRAF0.18803791
94PRKD10.18664238
95ILK0.18636478
96ADRBK20.18275758
97WNK10.17932682
98PDK20.17554058
99CAMK40.16970069
100CLK10.13171858

Predicted pathways (KEGG)

RankGene SetZ-score
1* Pathogenic Escherichia coli infection_Homo sapiens_hsa051305.39439804
2* Gap junction_Homo sapiens_hsa045403.82214950
3Hedgehog signaling pathway_Homo sapiens_hsa043403.26459952
4Systemic lupus erythematosus_Homo sapiens_hsa053223.10177111
5Propanoate metabolism_Homo sapiens_hsa006403.06950436
6Arginine biosynthesis_Homo sapiens_hsa002202.97807252
7Nitrogen metabolism_Homo sapiens_hsa009102.95171819
8Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.70501996
9Olfactory transduction_Homo sapiens_hsa047402.35967062
10Alcoholism_Homo sapiens_hsa050342.31425494
11Pyruvate metabolism_Homo sapiens_hsa006202.20962824
12Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.18407386
13Dilated cardiomyopathy_Homo sapiens_hsa054142.06171024
14Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.00385249
15Butanoate metabolism_Homo sapiens_hsa006501.99827723
16Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.93678808
17* Apoptosis_Homo sapiens_hsa042101.66320059
18Phenylalanine metabolism_Homo sapiens_hsa003601.64052442
19* Phagosome_Homo sapiens_hsa041451.55728494
20Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.48456090
21Glutathione metabolism_Homo sapiens_hsa004801.44449478
22Oocyte meiosis_Homo sapiens_hsa041141.43409639
23Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.42504993
24Cysteine and methionine metabolism_Homo sapiens_hsa002701.41902134
25Dorso-ventral axis formation_Homo sapiens_hsa043201.39669332
26Cardiac muscle contraction_Homo sapiens_hsa042601.37103244
27cGMP-PKG signaling pathway_Homo sapiens_hsa040221.36336550
28Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.32145216
29Steroid hormone biosynthesis_Homo sapiens_hsa001401.32017205
30Vascular smooth muscle contraction_Homo sapiens_hsa042701.27664673
31Glucagon signaling pathway_Homo sapiens_hsa049221.26366770
32Circadian rhythm_Homo sapiens_hsa047101.25422754
33PPAR signaling pathway_Homo sapiens_hsa033201.23738800
34Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.21293866
35Fatty acid degradation_Homo sapiens_hsa000711.20692162
36Tryptophan metabolism_Homo sapiens_hsa003801.10740677
37Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.10536493
38Basal transcription factors_Homo sapiens_hsa030221.09955199
39Fanconi anemia pathway_Homo sapiens_hsa034601.07083980
40Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.03455515
41Chemical carcinogenesis_Homo sapiens_hsa052040.99963719
42Renin secretion_Homo sapiens_hsa049240.99606960
43Regulation of autophagy_Homo sapiens_hsa041400.94393538
44Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.92180553
45Tyrosine metabolism_Homo sapiens_hsa003500.90712781
46Taste transduction_Homo sapiens_hsa047420.90023801
47Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.84132061
48Oxytocin signaling pathway_Homo sapiens_hsa049210.82451330
49Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.82297997
50beta-Alanine metabolism_Homo sapiens_hsa004100.80521743
51Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.78764247
52Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.77220300
53DNA replication_Homo sapiens_hsa030300.76130098
54mRNA surveillance pathway_Homo sapiens_hsa030150.74226170
55Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.71685208
56Calcium signaling pathway_Homo sapiens_hsa040200.71368791
57Fatty acid biosynthesis_Homo sapiens_hsa000610.71014515
58Arginine and proline metabolism_Homo sapiens_hsa003300.68694720
59Carbon metabolism_Homo sapiens_hsa012000.67977487
60Fatty acid metabolism_Homo sapiens_hsa012120.67826453
61Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.67204851
62Parkinsons disease_Homo sapiens_hsa050120.62826929
63Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.61679932
64Purine metabolism_Homo sapiens_hsa002300.61216110
65Gastric acid secretion_Homo sapiens_hsa049710.61209827
66Sulfur relay system_Homo sapiens_hsa041220.57060992
67Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.56636185
68Glycerophospholipid metabolism_Homo sapiens_hsa005640.54233908
69Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.53274855
70TGF-beta signaling pathway_Homo sapiens_hsa043500.52581681
71RNA transport_Homo sapiens_hsa030130.48848240
72Longevity regulating pathway - mammal_Homo sapiens_hsa042110.47546141
73Ovarian steroidogenesis_Homo sapiens_hsa049130.45598804
74Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.45048002
75Pentose phosphate pathway_Homo sapiens_hsa000300.42754225
76Phototransduction_Homo sapiens_hsa047440.39924252
77AMPK signaling pathway_Homo sapiens_hsa041520.39315226
78Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.38421217
79Transcriptional misregulation in cancer_Homo sapiens_hsa052020.37615344
80Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.36976209
81Circadian entrainment_Homo sapiens_hsa047130.36828960
822-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.36802743
83Metabolic pathways_Homo sapiens_hsa011000.35799111
84Wnt signaling pathway_Homo sapiens_hsa043100.28684024
85RNA degradation_Homo sapiens_hsa030180.27166907
86cAMP signaling pathway_Homo sapiens_hsa040240.26215370
87N-Glycan biosynthesis_Homo sapiens_hsa005100.23981331
88Retinol metabolism_Homo sapiens_hsa008300.20671660
89Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.19005324
90Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.18460948
91Insulin signaling pathway_Homo sapiens_hsa049100.18321314
92Tight junction_Homo sapiens_hsa045300.17857301
93Bile secretion_Homo sapiens_hsa049760.17549273
94Peroxisome_Homo sapiens_hsa041460.16983696
95Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.16698633
96Insulin resistance_Homo sapiens_hsa049310.16230730
97Endometrial cancer_Homo sapiens_hsa052130.14876240
98GABAergic synapse_Homo sapiens_hsa047270.14342341
99mTOR signaling pathway_Homo sapiens_hsa041500.14028587
100ECM-receptor interaction_Homo sapiens_hsa045120.13529981

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