TUBA3C

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. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene is an alpha tubulin gene that encodes a protein 99% identical to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1acrosome reaction (GO:0007340)9.02948617
2spermatid development (GO:0007286)8.67877748
3regulation of oxidative stress-induced neuron death (GO:1903203)8.60746029
4sperm motility (GO:0030317)8.02441610
5binding of sperm to zona pellucida (GO:0007339)7.92161495
6protein-DNA complex disassembly (GO:0032986)7.41978763
7nucleosome disassembly (GO:0006337)7.41978763
8regulation of oxidative phosphorylation (GO:0002082)7.36641734
9multicellular organism reproduction (GO:0032504)7.35589534
10relaxation of smooth muscle (GO:0044557)7.29255760
11motile cilium assembly (GO:0044458)7.15897447
12potassium ion export (GO:0071435)6.83943760
13synapsis (GO:0007129)6.61333022
14polyamine biosynthetic process (GO:0006596)6.46459622
15axonemal dynein complex assembly (GO:0070286)6.37040540
16negative regulation of hydrogen peroxide-induced cell death (GO:1903206)6.29038651
17sperm-egg recognition (GO:0035036)6.20921257
18organic cation transport (GO:0015695)6.04060998
19cGMP-mediated signaling (GO:0019934)5.95493123
20Leydig cell differentiation (GO:0033327)5.92260300
21cilium or flagellum-dependent cell motility (GO:0001539)5.80490689
22activation of protein kinase B activity (GO:0032148)5.79521503
23male sex determination (GO:0030238)5.79369487
24regulation of hydrogen peroxide-induced cell death (GO:1903205)5.75517976
25negative regulation of response to reactive oxygen species (GO:1901032)5.73007393
26cell-cell recognition (GO:0009988)5.48476705
27TOR signaling (GO:0031929)5.26674018
28epithelial cilium movement (GO:0003351)5.17188083
29reproduction (GO:0000003)5.15337525
30regulation of autophagic vacuole assembly (GO:2000785)5.06133225
31germ cell development (GO:0007281)5.03953830
32glutamine family amino acid catabolic process (GO:0009065)5.03219613
33regulation of dopamine secretion (GO:0014059)5.02988772
34glycogen metabolic process (GO:0005977)4.93835806
35regulation of cellular respiration (GO:0043457)4.92098804
36histone exchange (GO:0043486)4.90159289
37single fertilization (GO:0007338)4.89988830
38positive regulation of glycolytic process (GO:0045821)4.89748931
39cellular glucan metabolic process (GO:0006073)4.89308411
40glucan metabolic process (GO:0044042)4.89308411
41androgen biosynthetic process (GO:0006702)4.83979940
42negative regulation of cardiac muscle cell apoptotic process (GO:0010667)4.79540446
43chromosome organization involved in meiosis (GO:0070192)4.78560653
44gonadal mesoderm development (GO:0007506)4.61861669
45tongue development (GO:0043586)4.55484187
46response to acidic pH (GO:0010447)4.48948883
47ventricular system development (GO:0021591)4.45165031
48acrosome assembly (GO:0001675)4.41849423
49oogenesis (GO:0048477)4.40616753
50mitochondrion degradation (GO:0000422)4.39219782
51coenzyme catabolic process (GO:0009109)4.31133126
52cellular biogenic amine biosynthetic process (GO:0042401)4.29130902
53amine biosynthetic process (GO:0009309)4.24625224
54regulation of synaptic transmission, dopaminergic (GO:0032225)4.23980067
55meiotic nuclear division (GO:0007126)4.23486614
56fusion of sperm to egg plasma membrane (GO:0007342)4.21312141
57membrane repolarization during action potential (GO:0086011)4.17712355
58regulation of vacuole organization (GO:0044088)4.16110023
59cilium movement (GO:0003341)4.14029421
60dicarboxylic acid biosynthetic process (GO:0043650)3.98270657
61cellular process involved in reproduction in multicellular organism (GO:0022412)3.97970253
62negative regulation of inclusion body assembly (GO:0090084)3.96712315
63regulation of phosphatase activity (GO:0010921)3.96396214
64calcium ion-dependent exocytosis (GO:0017156)3.94218739
65diacylglycerol metabolic process (GO:0046339)3.89672628
66positive regulation of amine transport (GO:0051954)3.87840773
67polyamine metabolic process (GO:0006595)3.84589149
68DNA double-strand break processing (GO:0000729)3.83586945
69aspartate family amino acid catabolic process (GO:0009068)3.81468886
70negative regulation of smooth muscle contraction (GO:0045986)3.79894839
71negative regulation of JNK cascade (GO:0046329)3.79478051
72cellular response to toxic substance (GO:0097237)3.74745023
73negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)3.72633704
74oligosaccharide biosynthetic process (GO:0009312)3.66820529
75synaptonemal complex assembly (GO:0007130)3.66704299
76phosphatidylethanolamine biosynthetic process (GO:0006646)3.64653102
77membrane repolarization (GO:0086009)3.63425672
78regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.54913177
79cellular polysaccharide metabolic process (GO:0044264)3.44321127
80fertilization (GO:0009566)3.41754704
81negative regulation of stress-activated protein kinase signaling cascade (GO:0070303)3.37996472
82negative regulation of stress-activated MAPK cascade (GO:0032873)3.37996472
83histone H3-K9 demethylation (GO:0033169)3.35633852
84plasma membrane fusion (GO:0045026)3.32604787
85phosphatidylethanolamine metabolic process (GO:0046337)3.30972642
86piRNA metabolic process (GO:0034587)3.30011346
87synaptonemal complex organization (GO:0070193)3.28740032
88polysaccharide metabolic process (GO:0005976)3.24154069
89indole-containing compound catabolic process (GO:0042436)3.23309331
90indolalkylamine catabolic process (GO:0046218)3.23309331
91tryptophan catabolic process (GO:0006569)3.23309331
92nucleosome assembly (GO:0006334)3.23095873
93regulation of dephosphorylation (GO:0035303)3.14304862
94DNA synthesis involved in DNA repair (GO:0000731)3.14096877
95potassium ion import (GO:0010107)3.08656495
96negative regulation of striated muscle cell apoptotic process (GO:0010664)3.07002628
97positive regulation of synaptic transmission, dopaminergic (GO:0032226)11.6076001
98regulation of phosphoprotein phosphatase activity (GO:0043666)11.1723251
99positive regulation of catecholamine secretion (GO:0033605)10.4508238
100male meiosis (GO:0007140)10.3477897

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human9.90539560
2IGF1R_20145208_ChIP-Seq_DFB_Human5.05063303
3ESR1_20079471_ChIP-ChIP_T-47D_Human4.12495170
4VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human3.28517786
5TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.88103998
6ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.55079483
7EZH2_22144423_ChIP-Seq_EOC_Human2.17747718
8AR_21909140_ChIP-Seq_LNCAP_Human2.17046142
9CTBP2_25329375_ChIP-Seq_LNCAP_Human2.16026409
10FUS_26573619_Chip-Seq_HEK293_Human2.11356455
11FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse11.9878138
12AHR_22903824_ChIP-Seq_MCF-7_Human1.95839018
13ARNT_22903824_ChIP-Seq_MCF-7_Human1.94099510
14MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.93304812
15HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.85587674
16TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.77077661
17POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.77077661
18AR_21572438_ChIP-Seq_LNCaP_Human1.74284062
19NANOG_20526341_ChIP-Seq_ESCs_Human1.69898057
20CTBP1_25329375_ChIP-Seq_LNCAP_Human1.68608701
21ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.67458982
22ER_23166858_ChIP-Seq_MCF-7_Human1.58420464
23RAC3_21632823_ChIP-Seq_H3396_Human1.52348645
24GBX2_23144817_ChIP-Seq_PC3_Human1.48290432
25OCT1_27270436_Chip-Seq_PROSTATE_Human1.47962041
26IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.43203440
27CBP_20019798_ChIP-Seq_JUKART_Human1.43203440
28E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.41762611
29SMC4_20622854_ChIP-Seq_HELA_Human1.38030260
30ERA_21632823_ChIP-Seq_H3396_Human1.37342520
31SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.35293236
32WDR5_24793694_ChIP-Seq_LNCAP_Human1.35113928
33OCT4_20526341_ChIP-Seq_ESCs_Human1.33755464
34SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.32765754
35TP53_18474530_ChIP-ChIP_U2OS_Human1.31128300
36BCAT_22108803_ChIP-Seq_LS180_Human1.31123291
37PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.26876233
38CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.25166840
39ZNF263_19887448_ChIP-Seq_K562_Human1.24721514
40TBL1_22424771_ChIP-Seq_293T_Human1.24683155
41PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.23139615
42GATA1_22025678_ChIP-Seq_K562_Human1.22296885
43ERG_20517297_ChIP-Seq_VCAP_Human1.20871347
44UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.19621148
45MYC_19829295_ChIP-Seq_ESCs_Human1.18918379
46SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.18634218
47* CTCF_27219007_Chip-Seq_Bcells_Human1.17796291
48SMAD3_21741376_ChIP-Seq_EPCs_Human1.06980933
49CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.06890429
50PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.05717465
51* KLF5_20875108_ChIP-Seq_MESCs_Mouse1.03580398
52P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03134054
53SPI1_20517297_ChIP-Seq_HL60_Human1.02787393
54VDR_22108803_ChIP-Seq_LS180_Human1.02705563
55VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.02327573
56PKCTHETA_26484144_Chip-Seq_BREAST_Human1.01017250
57MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.00023983
58EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.98227389
59CTCF_20526341_ChIP-Seq_ESCs_Human0.97846464
60* RUNX2_22187159_ChIP-Seq_PCA_Human0.96333613
61RXR_22108803_ChIP-Seq_LS180_Human0.95208632
62SMAD4_21799915_ChIP-Seq_A2780_Human0.95205648
63RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.95075248
64FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.94900892
65P300_19829295_ChIP-Seq_ESCs_Human0.94159959
66RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.90193834
67TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.89217891
68P300_27268052_Chip-Seq_Bcells_Human0.88942998
69SMAD4_21741376_ChIP-Seq_EPCs_Human0.88827418
70ELF5_23300383_ChIP-Seq_T47D_Human0.87791109
71SOX2_19829295_ChIP-Seq_ESCs_Human0.87497107
72NANOG_19829295_ChIP-Seq_ESCs_Human0.87497107
73IRF8_21731497_ChIP-ChIP_J774_Mouse0.87232371
74P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.86901978
75PRDM14_20953172_ChIP-Seq_ESCs_Human0.86555982
76RAD21_21589869_ChIP-Seq_MESCs_Mouse0.86194798
77EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.83951001
78HOXB7_26014856_ChIP-Seq_BT474_Human0.82981733
79AR_25329375_ChIP-Seq_VCAP_Human0.82614166
80PHF8_20622854_ChIP-Seq_HELA_Human0.80888184
81LXR_22292898_ChIP-Seq_THP-1_Human0.79192827
82RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.79010276
83GF1B_26923725_Chip-Seq_HPCs_Mouse0.78089438
84P68_20966046_ChIP-Seq_HELA_Human0.77837493
85E2F1_17053090_ChIP-ChIP_MCF-7_Human0.77790152
86TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.77389125
87ESET_19884257_ChIP-Seq_ESCs_Mouse0.76965371
88PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.76635164
89GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.75904209
90IRF1_19129219_ChIP-ChIP_H3396_Human0.74244152
91TOP2B_26459242_ChIP-Seq_MCF-7_Human0.73692829
92PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.73525069
93CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.73220965
94AUTS2_25519132_ChIP-Seq_293T-REX_Human0.72714703
95PHF8_20622853_ChIP-Seq_HELA_Human0.70553944
96TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.70453886
97TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.69485237
98NFYB_21822215_ChIP-Seq_K562_Human0.69194850
99SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.68792900
100FOXH1_21741376_ChIP-Seq_ESCs_Human0.68668120

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization9.16655430
2MP0003315_abnormal_perineum_morphology7.51652441
3MP0008004_abnormal_stomach_pH6.62627445
4MP0005360_urolithiasis4.14987711
5MP0002160_abnormal_reproductive_system3.95615883
6MP0003698_abnormal_male_reproductive3.23009470
7MP0005058_abnormal_lysosome_morphology3.18379457
8MP0000537_abnormal_urethra_morphology3.08768850
9MP0003045_fibrosis3.04424452
10MP0001929_abnormal_gametogenesis2.95639283
11MP0002132_abnormal_respiratory_system2.47237764
12MP0003136_yellow_coat_color2.42420081
13MP0005647_abnormal_sex_gland2.27432964
14MP0001984_abnormal_olfaction2.25276267
15MP0010386_abnormal_urinary_bladder2.18095530
16MP0001664_abnormal_digestion2.12003958
17MP0010368_abnormal_lymphatic_system2.01124890
18MP0005394_taste/olfaction_phenotype1.98247144
19MP0005499_abnormal_olfactory_system1.98247144
20MP0005389_reproductive_system_phenotype1.88757972
21MP0005187_abnormal_penis_morphology1.84517524
22MP0002210_abnormal_sex_determination1.80305572
23MP0008995_early_reproductive_senescence1.72557130
24MP0000538_abnormal_urinary_bladder1.71785372
25MP0002161_abnormal_fertility/fecundity1.69080091
26MP0001145_abnormal_male_reproductive1.62591113
27MP0000465_gastrointestinal_hemorrhage1.60098451
28MP0001849_ear_inflammation1.58703427
29MP0001188_hyperpigmentation1.55533644
30MP0001905_abnormal_dopamine_level1.48490118
31MP0009697_abnormal_copulation1.45363602
32MP0000653_abnormal_sex_gland1.43599900
33MP0006072_abnormal_retinal_apoptosis1.42028295
34MP0004272_abnormal_basement_membrane1.24721785
35MP0003718_maternal_effect1.15821510
36MP0003632_abnormal_nervous_system1.06670296
37MP0000343_altered_response_to1.06634220
38MP0006036_abnormal_mitochondrial_physio1.06454171
39MP0005395_other_phenotype1.03935223
40MP0005646_abnormal_pituitary_gland1.03814242
41MP0003936_abnormal_reproductive_system1.03341885
42MP0001661_extended_life_span1.02012204
43MP0001919_abnormal_reproductive_system0.99802588
44MP0005409_darkened_coat_color0.97067191
45MP0002168_other_aberrant_phenotype0.93420490
46MP0002102_abnormal_ear_morphology0.91325110
47MP0005248_abnormal_Harderian_gland0.90541449
48MP0002127_abnormal_cardiovascular_syste0.87987568
49MP0003806_abnormal_nucleotide_metabolis0.87971112
50MP0001501_abnormal_sleep_pattern0.85370696
51MP0004084_abnormal_cardiac_muscle0.85355176
52MP0010234_abnormal_vibrissa_follicle0.81414276
53MP0001529_abnormal_vocalization0.81325835
54MP0004085_abnormal_heartbeat0.79298509
55MP0000470_abnormal_stomach_morphology0.79013231
56MP0003631_nervous_system_phenotype0.77920929
57MP0005174_abnormal_tail_pigmentation0.72809825
58MP0000631_abnormal_neuroendocrine_gland0.72219364
59MP0002233_abnormal_nose_morphology0.71033838
60MP0008789_abnormal_olfactory_epithelium0.68798141
61MP0005253_abnormal_eye_physiology0.67342704
62MP0008058_abnormal_DNA_repair0.66455303
63MP0002249_abnormal_larynx_morphology0.66132962
64MP0000678_abnormal_parathyroid_gland0.65907043
65MP0003385_abnormal_body_wall0.63888753
66MP0004036_abnormal_muscle_relaxation0.60294248
67MP0005595_abnormal_vascular_smooth0.54044759
68MP0000747_muscle_weakness0.53997056
69MP0001270_distended_abdomen0.53649889
70MP0000230_abnormal_systemic_arterial0.53080374
71MP0003868_abnormal_feces_composition0.50328812
72MP0003633_abnormal_nervous_system0.49640528
73MP0000762_abnormal_tongue_morphology0.49471561
74MP0002998_abnormal_bone_remodeling0.49242377
75MP0005620_abnormal_muscle_contractility0.48851891
76MP0009840_abnormal_foam_cell0.48684300
77MP0004381_abnormal_hair_follicle0.48299527
78MP0002090_abnormal_vision0.45361738
79MP0003693_abnormal_embryo_hatching0.45342088
80MP0000462_abnormal_digestive_system0.45177620
81MP0001756_abnormal_urination0.45107834
82MP0003879_abnormal_hair_cell0.44580951
83MP0000015_abnormal_ear_pigmentation0.42551524
84MP0003938_abnormal_ear_development0.39936023
85MP0002638_abnormal_pupillary_reflex0.38879462
86MP0002272_abnormal_nervous_system0.37614428
87MP0009250_abnormal_appendicular_skeleto0.36580721
88MP0005391_vision/eye_phenotype0.35462992
89MP0005166_decreased_susceptibility_to0.34597652
90MP0000920_abnormal_myelination0.34559823
91MP0006035_abnormal_mitochondrial_morpho0.33980197
92MP0004782_abnormal_surfactant_physiolog0.33518892
93MP0000627_abnormal_mammary_gland0.32817537
94MP0002115_abnormal_skeleton_extremities0.32646689
95MP0002752_abnormal_somatic_nervous0.32045084
96MP0000733_abnormal_muscle_development0.32011920
97MP0003635_abnormal_synaptic_transmissio0.31623932
98MP0003935_abnormal_craniofacial_develop0.30678729
99MP0001764_abnormal_homeostasis0.28264179
100MP0003699_abnormal_female_reproductive0.27893126

Predicted human phenotypes

RankGene SetZ-score
1Abnormal sex determination (HP:0012244)8.44126377
2Sex reversal (HP:0012245)8.44126377
3Hypoplasia of the uterus (HP:0000013)7.64888361
4Resting tremor (HP:0002322)7.63593135
5Respiratory insufficiency due to defective ciliary clearance (HP:0200073)6.17138605
6Reduced antithrombin III activity (HP:0001976)5.90707107
7Gonadal dysgenesis (HP:0000133)5.89408551
8Abnormality of the columella (HP:0009929)5.87154831
9Aplasia/hypoplasia of the uterus (HP:0008684)5.70304752
10Dynein arm defect of respiratory motile cilia (HP:0012255)5.33809368
11Absent/shortened dynein arms (HP:0200106)5.33809368
12Abnormal respiratory motile cilium physiology (HP:0012261)5.29367278
13Colitis (HP:0002583)5.24728569
14Abnormal ciliary motility (HP:0012262)5.05764332
15Facial hemangioma (HP:0000329)4.98548019
16Male pseudohermaphroditism (HP:0000037)4.69911285
17Postural instability (HP:0002172)4.54856282
18Germ cell neoplasia (HP:0100728)4.54640454
19Infertility (HP:0000789)4.53389104
20Ventricular fibrillation (HP:0001663)4.48809068
21Thoracic kyphosis (HP:0002942)4.27083458
22Thoracolumbar scoliosis (HP:0002944)4.25158196
23Cerebellar dysplasia (HP:0007033)4.23031767
24Urinary urgency (HP:0000012)4.12270645
25Abnormal respiratory epithelium morphology (HP:0012253)4.05492366
26Abnormal respiratory motile cilium morphology (HP:0005938)4.05492366
27Abnormality of the intrinsic pathway (HP:0010989)3.76728097
28Self-mutilation (HP:0000742)3.67532301
29Capillary hemangiomas (HP:0005306)3.42623168
30Type II lissencephaly (HP:0007260)3.42545527
31Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)3.40939628
32Abnormality of the lumbar spine (HP:0100712)3.37307358
33Inflammation of the large intestine (HP:0002037)3.33723893
34Retinal atrophy (HP:0001105)3.12024901
35Gastrointestinal inflammation (HP:0004386)3.10588316
36Nasal polyposis (HP:0100582)3.05622144
37Protruding tongue (HP:0010808)3.05595752
38Sensory axonal neuropathy (HP:0003390)3.05124713
39Retinal dysplasia (HP:0007973)3.04272570
40Rhinitis (HP:0012384)2.98941427
41Abnormality of the thoracic spine (HP:0100711)2.91674249
42Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.74197606
43Abnormality of the frontal sinuses (HP:0002687)2.69267799
44Abnormality of the nasal mucosa (HP:0000433)2.69220342
45Atonic seizures (HP:0010819)2.67628033
46Congenital sensorineural hearing impairment (HP:0008527)2.58723251
47Abnormality of male internal genitalia (HP:0000022)2.55114050
48Absent thumb (HP:0009777)2.54240303
49Unsteady gait (HP:0002317)2.50676854
50Occipital encephalocele (HP:0002085)2.41455869
51Buphthalmos (HP:0000557)2.39576278
52Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.38698969
53Decreased activity of mitochondrial respiratory chain (HP:0008972)2.38698969
54Chronic bronchitis (HP:0004469)2.32785456
55Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.30425011
56Abnormality of the ileum (HP:0001549)2.22826417
57Anterior segment dysgenesis (HP:0007700)2.21127654
58Spinal rigidity (HP:0003306)2.19805662
59Inability to walk (HP:0002540)2.18865689
60Bronchiectasis (HP:0002110)2.17208967
61Prolonged QT interval (HP:0001657)2.15358146
62Aplasia/Hypoplasia of the uvula (HP:0010293)2.15312489
63Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.12675582
64Absent rod-and cone-mediated responses on ERG (HP:0007688)2.10255805
65Syncope (HP:0001279)2.10223266
66Difficulty climbing stairs (HP:0003551)2.09742360
67Hypothermia (HP:0002045)2.07606309
68Coxa valga (HP:0002673)2.05085198
69Facial diplegia (HP:0001349)2.03758374
70Flattened epiphyses (HP:0003071)2.02013007
71Generalized hypotonia (HP:0001290)2.01143389
72Abnormal protein glycosylation (HP:0012346)2.01001985
73Abnormal glycosylation (HP:0012345)2.01001985
74Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.01001985
75Abnormal protein N-linked glycosylation (HP:0012347)2.01001985
76Meckel diverticulum (HP:0002245)2.00802628
77High anterior hairline (HP:0009890)1.98109507
78Polyneuropathy (HP:0001271)1.93970556
79Aortic aneurysm (HP:0004942)1.89117846
80Centrally nucleated skeletal muscle fibers (HP:0003687)1.85738701
81Aplasia cutis congenita (HP:0001057)1.83324826
82Chronic sinusitis (HP:0011109)1.83003742
83Squamous cell carcinoma (HP:0002860)1.79277843
84Depression (HP:0000716)1.74699005
85Absent speech (HP:0001344)1.70443742
86Abnormality of the preputium (HP:0100587)1.65616738
87Clubbing of toes (HP:0100760)1.64764071
88High pitched voice (HP:0001620)1.63605387
89Tubulointerstitial nephritis (HP:0001970)1.59433221
90Congenital glaucoma (HP:0001087)1.58739897
91Anxiety (HP:0000739)1.58560819
92Exercise-induced myalgia (HP:0003738)1.57329576
93Bradykinesia (HP:0002067)1.56897866
94Optic nerve hypoplasia (HP:0000609)1.56585836
95Median cleft lip (HP:0000161)1.56041354
96Atrial fibrillation (HP:0005110)1.53391578
97Aplasia/Hypoplasia of the brainstem (HP:0007362)1.50833456
98Hypoplasia of the brainstem (HP:0002365)1.50833456
99Slender long bone (HP:0003100)1.48773747
100Intellectual disability, progressive (HP:0006887)1.45741160

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK36.39755785
2TLK14.26368674
3ZAK4.20471731
4MYLK3.42618375
5RPS6KA53.01762005
6NEK22.53484270
7LATS12.11444576
8PINK111.9919057
9STK381.61459034
10MAP2K71.33440454
11STK38L1.18641835
12CDK31.17056145
13LATS21.12353663
14MST1R1.08709651
15MAP3K91.04915899
16SGK2231.02168612
17SGK4941.02168612
18ARAF0.99304468
19VRK10.87033744
20EIF2AK30.82250588
21CDK140.80753956
22CSNK1A1L0.79716172
23PRKCQ0.79070770
24CDC42BPA0.77899114
25MAPK150.77502581
26DYRK30.77161523
27NME20.74518111
28FRK0.69655815
29MAP3K130.68078933
30MELK0.67850156
31FGR0.64885900
32CSNK1G30.63479047
33PAK10.63158872
34PAK20.62790867
35MAP3K10.62440078
36BMPR1B0.62121289
37OBSCN0.57400212
38PKN10.55491781
39DAPK30.54530618
40PRKG20.51190744
41MAP3K50.49163084
42CSNK1G10.48416256
43MOS0.48082593
44MAP3K100.46551060
45ROCK10.44037423
46IRAK20.43081766
47FGFR20.41678203
48RET0.41028883
49RPS6KB10.39723997
50DYRK20.39641385
51ILK0.39460383
52CDK80.39384392
53CSNK1G20.39290871
54ATM0.38690364
55CDK50.37610945
56EGFR0.36131055
57ICK0.36108968
58PDPK10.35949284
59CCNB10.35855581
60BRAF0.35740019
61EEF2K0.33578882
62KSR20.32559030
63MET0.30446601
64TGFBR10.29898491
65PBK0.28703741
66AKT20.28489615
67TIE10.27875749
68CAMK10.27532962
69RPS6KA40.26997036
70MTOR0.26667476
71CLK10.25590484
72AURKB0.25385751
73PRKG10.24430860
74PTK2B0.21936051
75STK30.20743081
76PLK10.20471424
77AURKA0.20390157
78PDK10.20011317
79SGK20.19505065
80RPS6KA10.19330482
81CSNK1A10.19050659
82PRKD30.18763002
83RPS6KA30.16686330
84MAPK120.14951818
85PLK40.14717066
86PKN20.13836847
87STK40.11918854
88MAPK10.11451512
89MINK10.10656714
90GRK60.09971903
91CDK120.09596282
92PIM10.09149882
93ADRBK20.07616938
94SGK30.07211402
95MAP3K80.05598250
96BTK0.05408899
97FES0.04214928
98GRK10.02045752
99RAF10.01495478
100CSNK2A10.00171082

Predicted pathways (KEGG)

RankGene SetZ-score
1* Pathogenic Escherichia coli infection_Homo sapiens_hsa051306.55268182
2Systemic lupus erythematosus_Homo sapiens_hsa053224.48100396
3* Gap junction_Homo sapiens_hsa045404.40171199
4Hedgehog signaling pathway_Homo sapiens_hsa043404.01475306
5Nitrogen metabolism_Homo sapiens_hsa009103.64194447
6Alcoholism_Homo sapiens_hsa050343.45927905
7Arginine biosynthesis_Homo sapiens_hsa002203.14915409
8Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.69529729
9* Apoptosis_Homo sapiens_hsa042102.46426151
10Olfactory transduction_Homo sapiens_hsa047402.41989367
11Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.35983187
12* Phagosome_Homo sapiens_hsa041452.25980172
13Propanoate metabolism_Homo sapiens_hsa006402.25036410
14Pyruvate metabolism_Homo sapiens_hsa006201.91553824
15Glutathione metabolism_Homo sapiens_hsa004801.80411752
16Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.70208177
17Butanoate metabolism_Homo sapiens_hsa006501.64077052
18Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.57836398
19Dorso-ventral axis formation_Homo sapiens_hsa043201.56741649
20Cysteine and methionine metabolism_Homo sapiens_hsa002701.41112088
21Steroid hormone biosynthesis_Homo sapiens_hsa001401.39103755
22Oocyte meiosis_Homo sapiens_hsa041141.19951371
23Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.19678373
24Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.18850875
25Glucagon signaling pathway_Homo sapiens_hsa049221.15793469
26Vascular smooth muscle contraction_Homo sapiens_hsa042701.11547516
27Pentose phosphate pathway_Homo sapiens_hsa000301.06142014
28cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05961534
29Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.04041939
30Phenylalanine metabolism_Homo sapiens_hsa003600.98903373
31mRNA surveillance pathway_Homo sapiens_hsa030150.96314434
32Chemical carcinogenesis_Homo sapiens_hsa052040.85629626
33Transcriptional misregulation in cancer_Homo sapiens_hsa052020.79794300
34Basal transcription factors_Homo sapiens_hsa030220.78584040
35Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.78095622
36Taste transduction_Homo sapiens_hsa047420.77288133
37Fatty acid biosynthesis_Homo sapiens_hsa000610.75523108
38Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.75452539
39N-Glycan biosynthesis_Homo sapiens_hsa005100.75203911
40PPAR signaling pathway_Homo sapiens_hsa033200.74224823
41Renin secretion_Homo sapiens_hsa049240.74128170
42Oxytocin signaling pathway_Homo sapiens_hsa049210.72295961
43Fanconi anemia pathway_Homo sapiens_hsa034600.70476658
44Circadian rhythm_Homo sapiens_hsa047100.66991426
45Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.64771083
46Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.64535830
47TGF-beta signaling pathway_Homo sapiens_hsa043500.62162866
48Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.61552861
49Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.60894835
50Endometrial cancer_Homo sapiens_hsa052130.60603574
51Purine metabolism_Homo sapiens_hsa002300.57998613
52Tryptophan metabolism_Homo sapiens_hsa003800.55945757
53Viral carcinogenesis_Homo sapiens_hsa052030.51259843
54RNA transport_Homo sapiens_hsa030130.49744192
55Glycerophospholipid metabolism_Homo sapiens_hsa005640.49020481
56Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.48748968
57Gastric acid secretion_Homo sapiens_hsa049710.47596542
58Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.46557947
59DNA replication_Homo sapiens_hsa030300.46510865
60Tyrosine metabolism_Homo sapiens_hsa003500.45902390
61Wnt signaling pathway_Homo sapiens_hsa043100.44920950
62Prostate cancer_Homo sapiens_hsa052150.39461762
63Fatty acid degradation_Homo sapiens_hsa000710.35031295
64beta-Alanine metabolism_Homo sapiens_hsa004100.34900095
65Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.34795241
66Longevity regulating pathway - mammal_Homo sapiens_hsa042110.34589314
67Estrogen signaling pathway_Homo sapiens_hsa049150.34576458
68Choline metabolism in cancer_Homo sapiens_hsa052310.34119623
69Calcium signaling pathway_Homo sapiens_hsa040200.33255272
70Long-term potentiation_Homo sapiens_hsa047200.32078061
71Sphingolipid signaling pathway_Homo sapiens_hsa040710.31954729
72T cell receptor signaling pathway_Homo sapiens_hsa046600.31056491
73B cell receptor signaling pathway_Homo sapiens_hsa046620.30283437
74Carbon metabolism_Homo sapiens_hsa012000.27782644
75Melanoma_Homo sapiens_hsa052180.27620269
76Sphingolipid metabolism_Homo sapiens_hsa006000.27534551
77ECM-receptor interaction_Homo sapiens_hsa045120.26327026
78Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.25867543
79Metabolic pathways_Homo sapiens_hsa011000.24388389
80FoxO signaling pathway_Homo sapiens_hsa040680.23194624
81Focal adhesion_Homo sapiens_hsa045100.22716278
82Biosynthesis of amino acids_Homo sapiens_hsa012300.21694718
83MAPK signaling pathway_Homo sapiens_hsa040100.21062353
84SNARE interactions in vesicular transport_Homo sapiens_hsa041300.21037782
85Phosphatidylinositol signaling system_Homo sapiens_hsa040700.21028933
86Sulfur relay system_Homo sapiens_hsa041220.20619569
87Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.20186530
88Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.20043740
89Pyrimidine metabolism_Homo sapiens_hsa002400.19963926
90Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.19803645
91Circadian entrainment_Homo sapiens_hsa047130.19525333
92RNA degradation_Homo sapiens_hsa030180.19360900
93Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.18724439
94Dilated cardiomyopathy_Homo sapiens_hsa054140.17940630
95VEGF signaling pathway_Homo sapiens_hsa043700.16127623
96Synaptic vesicle cycle_Homo sapiens_hsa047210.12851984
97Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.11494997
98Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.10738826
99Selenocompound metabolism_Homo sapiens_hsa004500.09507866
100Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.08883491

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