TUBB4A

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 beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1central nervous system myelination (GO:0022010)5.82571465
2axon ensheathment in central nervous system (GO:0032291)5.82571465
3synaptic vesicle maturation (GO:0016188)5.78386789
4synaptic vesicle exocytosis (GO:0016079)5.28792501
5regulation of short-term neuronal synaptic plasticity (GO:0048172)4.99082676
6glutamate secretion (GO:0014047)4.94653857
7regulation of synaptic vesicle exocytosis (GO:2000300)4.85557094
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.82669255
9cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.66705964
10positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.64350822
11potassium ion homeostasis (GO:0055075)4.55565595
12locomotory exploration behavior (GO:0035641)4.49417386
13neuronal action potential propagation (GO:0019227)4.46163694
14vocalization behavior (GO:0071625)4.45019934
15neuron cell-cell adhesion (GO:0007158)4.40397291
16regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.35046135
17glycine transport (GO:0015816)4.33475840
18synaptic vesicle docking involved in exocytosis (GO:0016081)4.30415999
19regulation of synaptic vesicle transport (GO:1902803)4.22274589
20regulation of synapse maturation (GO:0090128)4.16882560
21protein localization to synapse (GO:0035418)4.09644725
22neurotransmitter secretion (GO:0007269)4.07165307
23cell communication by electrical coupling (GO:0010644)4.06259134
24cellular sodium ion homeostasis (GO:0006883)3.98445588
25ionotropic glutamate receptor signaling pathway (GO:0035235)3.93879985
26regulation of vesicle fusion (GO:0031338)3.93092772
27positive regulation of dendritic spine development (GO:0060999)3.88628655
28regulation of glutamate receptor signaling pathway (GO:1900449)3.82311811
29gamma-aminobutyric acid transport (GO:0015812)3.81321829
30adult walking behavior (GO:0007628)3.80868676
31regulation of ARF protein signal transduction (GO:0032012)3.79833916
32presynaptic membrane organization (GO:0097090)3.79566441
33synaptic transmission, glutamatergic (GO:0035249)3.72883893
34neuron-neuron synaptic transmission (GO:0007270)3.69100462
35regulation of neuronal synaptic plasticity (GO:0048168)3.68229325
36cerebellar granule cell differentiation (GO:0021707)3.67855449
37proline transport (GO:0015824)3.67815722
38negative regulation of synaptic transmission, GABAergic (GO:0032229)3.65652427
39L-amino acid import (GO:0043092)3.60377981
40neurotransmitter-gated ion channel clustering (GO:0072578)3.59378694
41membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.58580389
42positive regulation of neurotransmitter secretion (GO:0001956)3.57487372
43neuromuscular process controlling posture (GO:0050884)3.57443923
44neurotransmitter transport (GO:0006836)3.55861884
45regulation of dendritic spine morphogenesis (GO:0061001)3.55387239
46glutamate receptor signaling pathway (GO:0007215)3.54754912
47positive regulation of neurotransmitter transport (GO:0051590)3.54074873
48cerebellar Purkinje cell differentiation (GO:0021702)3.53118235
49presynaptic membrane assembly (GO:0097105)3.52835687
50negative regulation of dendrite morphogenesis (GO:0050774)3.50030870
51cellular potassium ion homeostasis (GO:0030007)3.49853853
52positive regulation of dendritic spine morphogenesis (GO:0061003)3.45404086
53regulation of long-term neuronal synaptic plasticity (GO:0048169)3.44350041
54membrane depolarization during action potential (GO:0086010)3.37579968
55regulation of synapse structural plasticity (GO:0051823)3.37211093
56long-term memory (GO:0007616)3.36339629
57exploration behavior (GO:0035640)3.36280684
58cytoskeletal anchoring at plasma membrane (GO:0007016)3.36072276
59regulation of dendritic spine development (GO:0060998)3.30905485
60synaptic vesicle transport (GO:0048489)3.28319793
61establishment of synaptic vesicle localization (GO:0097480)3.28319793
62regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.24816587
63negative regulation of microtubule polymerization (GO:0031115)3.24739913
64regulation of excitatory postsynaptic membrane potential (GO:0060079)3.24034375
65regulation of neurotransmitter secretion (GO:0046928)3.23990144
66layer formation in cerebral cortex (GO:0021819)3.22821572
67positive regulation of membrane potential (GO:0045838)3.22503269
68regulation of neurotransmitter levels (GO:0001505)3.22491580
69gamma-aminobutyric acid signaling pathway (GO:0007214)3.21989021
70long-chain fatty acid biosynthetic process (GO:0042759)3.21656756
71neuron recognition (GO:0008038)3.21185249
72vesicle docking involved in exocytosis (GO:0006904)3.18657406
73positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.18492020
74dendritic spine organization (GO:0097061)3.17970567
75neurotransmitter uptake (GO:0001504)3.17943345
76transmission of nerve impulse (GO:0019226)3.17639951
77negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.15955088
78cell communication involved in cardiac conduction (GO:0086065)3.14578327
79synaptic transmission (GO:0007268)3.14138716
80neuromuscular synaptic transmission (GO:0007274)3.13292896
81long-term synaptic potentiation (GO:0060291)3.12516342
82sodium ion export (GO:0071436)3.12247224
83myelination (GO:0042552)3.12131272
84axon ensheathment (GO:0008366)3.11232861
85ensheathment of neurons (GO:0007272)3.11232861
86postsynaptic membrane organization (GO:0001941)3.09136545
87regulation of postsynaptic membrane potential (GO:0060078)3.08335017
88regulation of synaptic plasticity (GO:0048167)3.08014178
89synaptic vesicle endocytosis (GO:0048488)3.07690941
90cerebellar Purkinje cell layer development (GO:0021680)3.07258982
91negative regulation of neurotransmitter transport (GO:0051589)3.06572677
92regulation of neurotransmitter transport (GO:0051588)3.06378926
93regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.06327264
94membrane hyperpolarization (GO:0060081)3.04078061
95regulation of synaptic transmission, glutamatergic (GO:0051966)3.03538772
96regulation of voltage-gated calcium channel activity (GO:1901385)3.03250558
97regulation of exocytosis (GO:0017157)3.02630412
98neuromuscular process controlling balance (GO:0050885)3.02489074
99positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.01910474
100positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.99633879
101dendritic spine morphogenesis (GO:0060997)2.99462208
102dendrite morphogenesis (GO:0048813)2.97132903
103auditory behavior (GO:0031223)2.94554092
104neuronal ion channel clustering (GO:0045161)2.93465879
105G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.93178225
106mechanosensory behavior (GO:0007638)2.93062870
107regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.92673014
108regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.92452184
109myelin maintenance (GO:0043217)2.91900883
110establishment of mitochondrion localization (GO:0051654)2.90964598
111positive regulation of synaptic transmission, GABAergic (GO:0032230)2.90349307
112positive regulation of synapse maturation (GO:0090129)2.86766325
113adult locomotory behavior (GO:0008344)2.85245786
114response to auditory stimulus (GO:0010996)2.85193829
115negative regulation of axonogenesis (GO:0050771)2.85038256
116neuromuscular process (GO:0050905)2.84902182
117activation of protein kinase A activity (GO:0034199)2.84703884
118acidic amino acid transport (GO:0015800)2.80121623
119membrane depolarization (GO:0051899)2.78720475
120cell differentiation in hindbrain (GO:0021533)2.78332744
121axonal fasciculation (GO:0007413)2.78085161
122amino acid import (GO:0043090)2.77349152
123vesicle transport along microtubule (GO:0047496)2.77191047
124potassium ion import (GO:0010107)2.76289514
125regulation of synaptic transmission (GO:0050804)2.76120501

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.13538644
2GBX2_23144817_ChIP-Seq_PC3_Human3.50020997
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.11232559
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.07179016
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.80985519
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.69800020
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.69800020
8THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.57903790
9REST_21632747_ChIP-Seq_MESCs_Mouse2.57684380
10SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.55141976
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.54401068
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.51306708
13DROSHA_22980978_ChIP-Seq_HELA_Human2.51278682
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.49587378
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.46965627
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.44708631
17RARB_27405468_Chip-Seq_BRAIN_Mouse2.43285966
18EZH2_27304074_Chip-Seq_ESCs_Mouse2.42580529
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.29746583
20NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.28931295
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.26680302
22REST_18959480_ChIP-ChIP_MESCs_Mouse2.24260015
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.23326777
24MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.16104298
25AR_21572438_ChIP-Seq_LNCaP_Human2.15833998
26RNF2_27304074_Chip-Seq_ESCs_Mouse2.12099561
27RCOR2_21632747_ChIP-Seq_MESCs_Mouse2.10513648
28IKZF1_21737484_ChIP-ChIP_HCT116_Human1.86482704
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.84899547
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.80101183
31CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.79530617
32TAF15_26573619_Chip-Seq_HEK293_Human1.77408379
33EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.70356865
34SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.65138335
35TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.62435038
36CTBP2_25329375_ChIP-Seq_LNCAP_Human1.58319373
37SMAD4_21799915_ChIP-Seq_A2780_Human1.47817499
38SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.44363748
39CTBP1_25329375_ChIP-Seq_LNCAP_Human1.44280133
40ZFP281_27345836_Chip-Seq_ESCs_Mouse1.44139832
41VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.43593581
42ERG_21242973_ChIP-ChIP_JURKAT_Human1.41325268
43DNAJC2_21179169_ChIP-ChIP_NT2_Human1.40912964
44ZFP57_27257070_Chip-Seq_ESCs_Mouse1.40499476
45OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.39651501
46PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.38324940
47PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.30851478
48SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.28562791
49RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.27475580
50P300_19829295_ChIP-Seq_ESCs_Human1.27355517
51NR3C1_23031785_ChIP-Seq_PC12_Mouse1.26574285
52SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.25641178
53BMI1_23680149_ChIP-Seq_NPCS_Mouse1.24332709
54CBX2_27304074_Chip-Seq_ESCs_Mouse1.22896932
55ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.21400073
56SMAD3_21741376_ChIP-Seq_EPCs_Human1.21054245
57RING1B_27294783_Chip-Seq_ESCs_Mouse1.20960764
58SOX2_21211035_ChIP-Seq_LN229_Gbm1.20415024
59RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.20287971
60LXR_22292898_ChIP-Seq_THP-1_Human1.18574441
61P53_22127205_ChIP-Seq_FIBROBLAST_Human1.18104711
62WT1_25993318_ChIP-Seq_PODOCYTE_Human1.16732061
63SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.16432856
64STAT3_23295773_ChIP-Seq_U87_Human1.15887405
65ESR2_21235772_ChIP-Seq_MCF-7_Human1.09556503
66RNF2_27304074_Chip-Seq_NSC_Mouse1.07762261
67OCT4_19829295_ChIP-Seq_ESCs_Human1.07744292
68KDM2B_26808549_Chip-Seq_SUP-B15_Human1.07401495
69TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.07381094
70AR_19668381_ChIP-Seq_PC3_Human1.07319851
71CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.06914519
72TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.05912636
73TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05773451
74AR_25329375_ChIP-Seq_VCAP_Human1.04816991
75TOP2B_26459242_ChIP-Seq_MCF-7_Human1.03719739
76SRY_22984422_ChIP-ChIP_TESTIS_Rat1.03451052
77GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.02487101
78PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.02245280
79TCF4_23295773_ChIP-Seq_U87_Human1.01802061
80RING1B_27294783_Chip-Seq_NPCs_Mouse1.01168334
81SMC4_20622854_ChIP-Seq_HELA_Human1.00823521
82PIAS1_25552417_ChIP-Seq_VCAP_Human1.00796312
83ARNT_22903824_ChIP-Seq_MCF-7_Human1.00634893
84SMAD_19615063_ChIP-ChIP_OVARY_Human0.99806063
85GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99040745
86MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98791962
87DPY_21335234_ChIP-Seq_ESCs_Mouse0.98521377
88AHR_22903824_ChIP-Seq_MCF-7_Human0.97207297
89SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.95273799
90PRDM14_20953172_ChIP-Seq_ESCs_Human0.94079909
91SMAD3_21741376_ChIP-Seq_ESCs_Human0.93968731
92SMAD4_21741376_ChIP-Seq_HESCs_Human0.93495555
93ER_23166858_ChIP-Seq_MCF-7_Human0.93354240
94CDX2_19796622_ChIP-Seq_MESCs_Mouse0.93331189
95ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.92617471
96ZFP281_18757296_ChIP-ChIP_E14_Mouse0.92378330
97TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.92230106
98SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.92039545
99OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.90732858
100SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.90664367
101PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.90089714
102TET1_21490601_ChIP-Seq_MESCs_Mouse0.90022990
103KDM2B_26808549_Chip-Seq_K562_Human0.88787264
104PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.88551203
105YAP1_20516196_ChIP-Seq_MESCs_Mouse0.88308373
106EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.87411957
107ZNF217_24962896_ChIP-Seq_MCF-7_Human0.87109698
108WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.87024790
109AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.86257590
110KLF4_19829295_ChIP-Seq_ESCs_Human0.84982448
111ZNF274_21170338_ChIP-Seq_K562_Hela0.84927975
112IGF1R_20145208_ChIP-Seq_DFB_Human0.84741477
113RUNX2_22187159_ChIP-Seq_PCA_Human0.84124144
114POU3F2_20337985_ChIP-ChIP_501MEL_Human0.83785335
115RUNX1_26923725_Chip-Seq_HPCs_Mouse0.83543018
116EGR1_19032775_ChIP-ChIP_M12_Human0.82491725
117DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.82315187
118GATA1_26923725_Chip-Seq_HPCs_Mouse0.82308753
119STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.82265795
120SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81865837
121CREB1_26743006_Chip-Seq_LNCaP_Human0.81326186
122NR3C1_21868756_ChIP-Seq_MCF10A_Human0.81005706
123CTNNB1_20460455_ChIP-Seq_HCT116_Human0.80792802
124SMAD4_21741376_ChIP-Seq_ESCs_Human0.80690104
125LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.78823429
126MYC_19915707_ChIP-ChIP_AK7_Human0.78508097
127SMAD4_21741376_ChIP-Seq_EPCs_Human0.78438858
128UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.77493889
129CTCF_27219007_Chip-Seq_Bcells_Human0.77446586
130KDM2B_26808549_Chip-Seq_DND41_Human0.76315742
131TP53_20018659_ChIP-ChIP_R1E_Mouse0.75634325
132GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.73825901
133EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.73786968
134SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.73231633
135P68_20966046_ChIP-Seq_HELA_Human0.73188580
136TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.72239701
137TP53_23651856_ChIP-Seq_MEFs_Mouse0.70400055
138NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.69525073

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.41608522
2MP0003880_abnormal_central_pattern5.16988489
3MP0004270_analgesia3.81029572
4MP0003635_abnormal_synaptic_transmissio3.71081194
5MP0002064_seizures3.30091265
6MP0009046_muscle_twitch3.22185318
7MP0009745_abnormal_behavioral_response3.17154748
8MP0002272_abnormal_nervous_system3.01289542
9MP0001968_abnormal_touch/_nociception2.89941473
10MP0002063_abnormal_learning/memory/cond2.89279147
11MP0005423_abnormal_somatic_nervous2.71251072
12MP0002734_abnormal_mechanical_nocicepti2.70886564
13MP0001486_abnormal_startle_reflex2.68353250
14MP0002572_abnormal_emotion/affect_behav2.57520248
15MP0000920_abnormal_myelination2.44235566
16MP0002736_abnormal_nociception_after2.37073882
17MP0002735_abnormal_chemical_nociception2.22342570
18MP0008569_lethality_at_weaning2.17636618
19MP0002822_catalepsy2.17081300
20MP0001970_abnormal_pain_threshold2.13502954
21MP0004142_abnormal_muscle_tone2.10763721
22MP0001529_abnormal_vocalization2.08268502
23MP0002067_abnormal_sensory_capabilities2.05491065
24MP0002733_abnormal_thermal_nociception2.05344979
25MP0003329_amyloid_beta_deposits2.04135844
26MP0000778_abnormal_nervous_system2.00593893
27MP0001440_abnormal_grooming_behavior2.00372944
28MP0004885_abnormal_endolymph1.93741687
29MP0001501_abnormal_sleep_pattern1.83997927
30MP0000955_abnormal_spinal_cord1.76268615
31MP0004811_abnormal_neuron_physiology1.71959847
32MP0005646_abnormal_pituitary_gland1.71448284
33MP0002184_abnormal_innervation1.70935527
34MP0004924_abnormal_behavior1.65711620
35MP0005386_behavior/neurological_phenoty1.65711620
36MP0001905_abnormal_dopamine_level1.65690505
37MP0005171_absent_coat_pigmentation1.58083287
38MP0003633_abnormal_nervous_system1.56942937
39MP0002557_abnormal_social/conspecific_i1.56516994
40MP0002882_abnormal_neuron_morphology1.55211705
41MP0002066_abnormal_motor_capabilities/c1.55153470
42MP0003690_abnormal_glial_cell1.54810163
43MP0004742_abnormal_vestibular_system1.52454301
44MP0003123_paternal_imprinting1.52166598
45MP0006276_abnormal_autonomic_nervous1.51339727
46MP0003634_abnormal_glial_cell1.48670692
47MP0004858_abnormal_nervous_system1.48191665
48MP0009780_abnormal_chondrocyte_physiolo1.46682321
49MP0001984_abnormal_olfaction1.43031594
50MP0002229_neurodegeneration1.42364583
51MP0003631_nervous_system_phenotype1.41657578
52MP0003122_maternal_imprinting1.35371659
53MP0005645_abnormal_hypothalamus_physiol1.30855250
54MP0003787_abnormal_imprinting1.30703834
55MP0001502_abnormal_circadian_rhythm1.29676242
56MP0003879_abnormal_hair_cell1.26166486
57MP0003632_abnormal_nervous_system1.17402094
58MP0002909_abnormal_adrenal_gland1.12859718
59MP0004145_abnormal_muscle_electrophysio1.10172264
60MP0004147_increased_porphyrin_level1.09853294
61MP0005551_abnormal_eye_electrophysiolog1.08394419
62MP0004043_abnormal_pH_regulation1.06680117
63MP0002152_abnormal_brain_morphology1.06473218
64MP0008260_abnormal_autophagy1.04077067
65MP0001348_abnormal_lacrimal_gland1.03363827
66MP0001963_abnormal_hearing_physiology0.96840523
67MP0000751_myopathy0.95577134
68MP0001177_atelectasis0.94776077
69MP0001485_abnormal_pinna_reflex0.94491453
70MP0001346_abnormal_lacrimal_gland0.94107802
71MP0002752_abnormal_somatic_nervous0.94004467
72MP0000604_amyloidosis0.90982572
73MP0005167_abnormal_blood-brain_barrier0.88019384
74MP0002069_abnormal_eating/drinking_beha0.87976256
75MP0005623_abnormal_meninges_morphology0.86265827
76MP0002653_abnormal_ependyma_morphology0.86244913
77MP0003183_abnormal_peptide_metabolism0.86133002
78MP0001188_hyperpigmentation0.84953212
79MP0001986_abnormal_taste_sensitivity0.84265245
80MP0008872_abnormal_physiological_respon0.84206186
81MP0001299_abnormal_eye_distance/0.82225337
82MP0008877_abnormal_DNA_methylation0.80186359
83MP0000747_muscle_weakness0.78586845
84MP0008874_decreased_physiological_sensi0.78142480
85MP0000013_abnormal_adipose_tissue0.77712097
86MP0002638_abnormal_pupillary_reflex0.76254915
87MP0005410_abnormal_fertilization0.75126935
88MP0004085_abnormal_heartbeat0.66042324
89MP0002090_abnormal_vision0.65861665
90MP0005499_abnormal_olfactory_system0.64903703
91MP0005394_taste/olfaction_phenotype0.64903703
92MP0001943_abnormal_respiration0.62577285
93MP0000631_abnormal_neuroendocrine_gland0.62572713
94MP0001664_abnormal_digestion0.62316577
95MP0003137_abnormal_impulse_conducting0.61830573
96MP0003075_altered_response_to0.61415347
97MP0000579_abnormal_nail_morphology0.60070199
98MP0003121_genomic_imprinting0.59937983
99MP0005409_darkened_coat_color0.58376430
100MP0005535_abnormal_body_temperature0.56674832
101MP0010769_abnormal_survival0.54753137
102MP0000639_abnormal_adrenal_gland0.53743666
103MP0010770_preweaning_lethality0.53668702
104MP0002082_postnatal_lethality0.53668702
105MP0010386_abnormal_urinary_bladder0.52509251
106MP0003283_abnormal_digestive_organ0.52232048
107MP0010768_mortality/aging0.51095945
108MP0003172_abnormal_lysosome_physiology0.49347693
109MP0003861_abnormal_nervous_system0.48679960
110MP0000566_synostosis0.48608219
111MP0003956_abnormal_body_size0.48248638
112MP0004233_abnormal_muscle_weight0.47830762
113MP0004130_abnormal_muscle_cell0.47534644
114MP0002873_normal_phenotype0.46542099
115MP0000026_abnormal_inner_ear0.46336780
116MP0002169_no_abnormal_phenotype0.44627838
117MP0002089_abnormal_postnatal_growth/wei0.43764737

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)6.76780982
2Focal motor seizures (HP:0011153)6.05842852
3Focal seizures (HP:0007359)4.62891861
4Ankle clonus (HP:0011448)4.37213573
5Epileptic encephalopathy (HP:0200134)4.33141312
6Supranuclear gaze palsy (HP:0000605)4.23722237
7Progressive cerebellar ataxia (HP:0002073)4.21137629
8Action tremor (HP:0002345)4.06507209
9Atonic seizures (HP:0010819)4.04897915
10Visual hallucinations (HP:0002367)3.95322838
11Annular pancreas (HP:0001734)3.90674618
12Febrile seizures (HP:0002373)3.75054447
13Dysmetria (HP:0001310)3.70986256
14Obstructive sleep apnea (HP:0002870)3.64053976
15Neurofibrillary tangles (HP:0002185)3.59959473
16Peripheral hypomyelination (HP:0007182)3.56465279
17Tetraplegia (HP:0002445)3.55035806
18Abnormality of the corticospinal tract (HP:0002492)3.43409377
19Papilledema (HP:0001085)3.42558886
20Pheochromocytoma (HP:0002666)3.39225121
21Spastic gait (HP:0002064)3.33464103
22Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.33344593
23Degeneration of the lateral corticospinal tracts (HP:0002314)3.33344593
24Scanning speech (HP:0002168)3.28819621
25Generalized tonic-clonic seizures (HP:0002069)3.12564420
26Status epilepticus (HP:0002133)3.10229767
27Absence seizures (HP:0002121)3.08154449
28Broad-based gait (HP:0002136)3.07956333
29Dialeptic seizures (HP:0011146)3.05866611
30Intention tremor (HP:0002080)3.04189072
31Abnormal eating behavior (HP:0100738)3.02362810
32Termporal pattern (HP:0011008)2.96752444
33Insidious onset (HP:0003587)2.96752444
34Dysdiadochokinesis (HP:0002075)2.94968948
35Neuroendocrine neoplasm (HP:0100634)2.93823369
36Postural instability (HP:0002172)2.93456675
37Depression (HP:0000716)2.93315624
38Gaze-evoked nystagmus (HP:0000640)2.93076292
39Onion bulb formation (HP:0003383)2.93031544
40Urinary urgency (HP:0000012)2.92457956
41Hyperventilation (HP:0002883)2.90898881
42Cerebral inclusion bodies (HP:0100314)2.86765197
43Anxiety (HP:0000739)2.79095253
44Sensory axonal neuropathy (HP:0003390)2.77823759
45Truncal ataxia (HP:0002078)2.74196685
46Abnormal auditory evoked potentials (HP:0006958)2.69059951
47Impaired vibration sensation in the lower limbs (HP:0002166)2.67743667
48Insomnia (HP:0100785)2.64447464
49Urinary bladder sphincter dysfunction (HP:0002839)2.60308917
50Mutism (HP:0002300)2.53919591
51Poor eye contact (HP:0000817)2.50840600
52Apathy (HP:0000741)2.50505196
53Lower limb muscle weakness (HP:0007340)2.43612212
54* Cerebral hypomyelination (HP:0006808)2.43338314
55Alacrima (HP:0000522)2.38863271
56Clonus (HP:0002169)2.37673274
57Abnormality of ocular smooth pursuit (HP:0000617)2.37003606
58Megalencephaly (HP:0001355)2.36700274
59Increased circulating renin level (HP:0000848)2.32492292
60Progressive inability to walk (HP:0002505)2.32335898
61Stereotypic behavior (HP:0000733)2.30459694
62Abnormal social behavior (HP:0012433)2.29432473
63Impaired social interactions (HP:0000735)2.29432473
64Blue irides (HP:0000635)2.27799544
65Rapidly progressive (HP:0003678)2.26845938
66Polyphagia (HP:0002591)2.26679785
67Diminished motivation (HP:0000745)2.25053514
68Diplopia (HP:0000651)2.24883815
69Abnormality of binocular vision (HP:0011514)2.24883815
70Abnormality of saccadic eye movements (HP:0000570)2.24627220
71Slow saccadic eye movements (HP:0000514)2.23683592
72Failure to thrive in infancy (HP:0001531)2.22734317
73Spastic tetraparesis (HP:0001285)2.20269405
74Excessive salivation (HP:0003781)2.20086315
75Drooling (HP:0002307)2.20086315
76Bradykinesia (HP:0002067)2.16987002
77Impaired vibratory sensation (HP:0002495)2.16936169
78* Craniofacial dystonia (HP:0012179)2.14643650
79Akinesia (HP:0002304)2.13501223
80* Choreoathetosis (HP:0001266)2.11990897
81Amblyopia (HP:0000646)2.10574451
82Ventricular fibrillation (HP:0001663)2.09912148
83Lower limb asymmetry (HP:0100559)2.08545374
84Epileptiform EEG discharges (HP:0011182)2.08250887
85Sleep apnea (HP:0010535)2.05492809
86* Torticollis (HP:0000473)2.04285606
87Neuronal loss in central nervous system (HP:0002529)2.03436677
88Genetic anticipation (HP:0003743)2.01664369
89Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.00966781
90* Rigidity (HP:0002063)1.98853342
91EEG with generalized epileptiform discharges (HP:0011198)1.98368370
92Hemiparesis (HP:0001269)1.97980355
93Abnormality of the lower motor neuron (HP:0002366)1.97363489
94Impaired smooth pursuit (HP:0007772)1.95776527
95Neoplasm of the peripheral nervous system (HP:0100007)1.95242427
96Morphological abnormality of the pyramidal tract (HP:0002062)1.95085241
97Delusions (HP:0000746)1.94590255
98Generalized myoclonic seizures (HP:0002123)1.94421674
99Thickened helices (HP:0000391)1.94342955
100* Focal dystonia (HP:0004373)1.93984278
101Abnormal hair whorl (HP:0010721)1.93846698
102Absent speech (HP:0001344)1.93570887
103Hypsarrhythmia (HP:0002521)1.92957214
104Bundle branch block (HP:0011710)1.92721440
105Incomplete penetrance (HP:0003829)1.91299561
106Clumsiness (HP:0002312)1.91069171
107Slow progression (HP:0003677)1.90393989
108Spinal canal stenosis (HP:0003416)1.90263470
109Unsteady gait (HP:0002317)1.90252798
110Decreased lacrimation (HP:0000633)1.89922278
111Postural tremor (HP:0002174)1.89800080
112Abnormality of the periventricular white matter (HP:0002518)1.89287551
113Fetal akinesia sequence (HP:0001989)1.89174539
114Aplasia involving bones of the upper limbs (HP:0009823)1.89078893
115Aplasia of the phalanges of the hand (HP:0009802)1.89078893
116Aplasia involving bones of the extremities (HP:0009825)1.89078893
117Lower limb amyotrophy (HP:0007210)1.87942399
118Segmental peripheral demyelination/remyelination (HP:0003481)1.87907985
119Hemiplegia (HP:0002301)1.87816886
120Memory impairment (HP:0002354)1.87202653
121Psychosis (HP:0000709)1.86890163
122Amyotrophic lateral sclerosis (HP:0007354)1.86430643
123Split foot (HP:0001839)1.85309591
124* Specific learning disability (HP:0001328)1.83516706
125Distal sensory impairment (HP:0002936)1.82670279
126Retinal dysplasia (HP:0007973)1.82113857
127Iris hypopigmentation (HP:0007730)1.81299597
128Hand muscle atrophy (HP:0009130)1.80600297
129Pointed chin (HP:0000307)1.79344090
130Dysmetric saccades (HP:0000641)1.77343170

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.21557300
2CASK3.04320581
3CDK192.86111001
4MAP3K92.57780946
5EPHA42.54634137
6OXSR12.46770845
7MAP3K42.37899754
8MARK12.32440214
9PAK62.29630086
10PRPF4B2.28849166
11MAP2K72.16685054
12MINK12.16023038
13STK392.06161114
14DAPK22.03018705
15UHMK12.01122483
16RIPK11.94075457
17SGK2231.93189629
18SGK4941.93189629
19NTRK21.85793687
20MAP3K121.85152185
21PRKD31.73229799
22PKN11.65065135
23LATS21.64079234
24NTRK11.63154550
25KSR21.61848768
26MAPKAPK51.54985974
27LIMK11.49092443
28MAP2K41.46449267
29CDK51.46394073
30CAMK2B1.42466970
31GRK51.42296088
32TYRO31.38439452
33MAPK131.36690280
34CAMKK11.36008542
35PLK21.34971717
36BCR1.31989357
37FGFR21.28039779
38CAMKK21.24178945
39CDK181.15918282
40TNIK1.15806042
41PHKG11.14110441
42PHKG21.14110441
43NEK61.14083729
44CDK141.13757781
45ARAF1.13258719
46CDK151.13113250
47WNK11.10894690
48PRKCG1.05488790
49CAMK2D1.03501462
50CAMK2G1.03341360
51CAMK2A1.02680626
52ROCK21.00314785
53CSNK1G20.99981674
54CDK11A0.99467764
55PINK10.94754541
56MAP3K20.92512785
57PRKCH0.90084605
58DAPK10.90002917
59SIK30.89658562
60BRSK10.89022776
61MAPK120.85105960
62KSR10.83752584
63CSNK1G30.83718959
64PNCK0.81887513
65DAPK30.81758362
66FES0.80773786
67RIPK40.77176818
68MARK20.75491140
69WNK40.74106538
70MAPK100.73331905
71CSNK1A1L0.71485558
72PDPK10.70714086
73SGK20.70495539
74PAK30.69613330
75PRKCE0.69351056
76STK380.68710904
77CAMK40.68181961
78STK110.67859081
79RET0.67178605
80PDK10.66938592
81CAMK10.65580349
82LMTK20.65365674
83SGK30.65257874
84BRAF0.62703783
85CCNB10.59415254
86TESK20.58702072
87PTK2B0.57299138
88TNK20.56759125
89MAP3K110.56755722
90SIK20.54774322
91SGK10.53387916
92DYRK1A0.51318928
93MAP3K10.50408725
94PRKCZ0.48821565
95DYRK20.47228615
96RAF10.46767897
97MAP3K130.46762645
98FYN0.46677732
99BMPR1B0.46464060
100TESK10.46039989
101PRKD10.45695250
102CSNK1G10.44982968
103MUSK0.44187298
104PDK20.43913863
105ALK0.42342138
106EPHB10.41307084
107AKT30.40801827
108BMPR20.39431960
109RPS6KA30.38658991
110FER0.38531829
111PRKG20.37520942
112PRKCA0.32571029
113ERBB20.28175553
114PRKG10.25775109
115MAPK80.25764999
116SRC0.25715604
117ROCK10.25154433
118PRKCB0.24221147
119GSK3B0.23561656
120CSNK1E0.23532925
121PRKACA0.22326482

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.85631661
2Nicotine addiction_Homo sapiens_hsa050333.32454100
3GABAergic synapse_Homo sapiens_hsa047272.72538189
4Glutamatergic synapse_Homo sapiens_hsa047242.48356662
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.47884059
6Circadian entrainment_Homo sapiens_hsa047132.43249397
7Morphine addiction_Homo sapiens_hsa050322.39262768
8Olfactory transduction_Homo sapiens_hsa047402.36873629
9Nitrogen metabolism_Homo sapiens_hsa009102.30188138
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.20840829
11Long-term potentiation_Homo sapiens_hsa047202.14937053
12Collecting duct acid secretion_Homo sapiens_hsa049662.11676533
13Amphetamine addiction_Homo sapiens_hsa050312.04453633
14Salivary secretion_Homo sapiens_hsa049701.93709451
15Dopaminergic synapse_Homo sapiens_hsa047281.92815277
16Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.82436275
17Insulin secretion_Homo sapiens_hsa049111.75796700
18Long-term depression_Homo sapiens_hsa047301.74793474
19Gastric acid secretion_Homo sapiens_hsa049711.73700015
20Cholinergic synapse_Homo sapiens_hsa047251.70697298
21Taste transduction_Homo sapiens_hsa047421.65376837
22Serotonergic synapse_Homo sapiens_hsa047261.61122528
23Cocaine addiction_Homo sapiens_hsa050301.60415051
24Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.50489713
25Vibrio cholerae infection_Homo sapiens_hsa051101.46465136
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.44478461
27Aldosterone synthesis and secretion_Homo sapiens_hsa049251.42814839
28Axon guidance_Homo sapiens_hsa043601.40792692
29Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.40588123
30Renin secretion_Homo sapiens_hsa049241.38358513
31Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.31617757
32Oxytocin signaling pathway_Homo sapiens_hsa049211.28135585
33Calcium signaling pathway_Homo sapiens_hsa040201.24229638
34* Gap junction_Homo sapiens_hsa045401.16825288
35Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.15839359
36Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.15234312
37Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.14212244
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.10977828
39cAMP signaling pathway_Homo sapiens_hsa040241.08749929
40GnRH signaling pathway_Homo sapiens_hsa049121.08606503
41ErbB signaling pathway_Homo sapiens_hsa040120.99851913
42Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.99039139
43SNARE interactions in vesicular transport_Homo sapiens_hsa041300.98144146
44Fatty acid elongation_Homo sapiens_hsa000620.96209826
45Type II diabetes mellitus_Homo sapiens_hsa049300.94651184
46Vitamin B6 metabolism_Homo sapiens_hsa007500.91042624
47Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.89557537
48Cardiac muscle contraction_Homo sapiens_hsa042600.88080163
49Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.85658592
50Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.85535149
51Vascular smooth muscle contraction_Homo sapiens_hsa042700.85151372
52Estrogen signaling pathway_Homo sapiens_hsa049150.80767050
53Phospholipase D signaling pathway_Homo sapiens_hsa040720.80342571
54Endocytosis_Homo sapiens_hsa041440.78741304
55Pancreatic secretion_Homo sapiens_hsa049720.78708375
56Melanogenesis_Homo sapiens_hsa049160.78412346
57Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.77709034
58Phototransduction_Homo sapiens_hsa047440.76641293
59Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.76203313
60cGMP-PKG signaling pathway_Homo sapiens_hsa040220.75464281
61Glioma_Homo sapiens_hsa052140.73968952
62Ether lipid metabolism_Homo sapiens_hsa005650.73053942
63Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.69800115
64Arginine and proline metabolism_Homo sapiens_hsa003300.67699401
65Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.67085625
66Ras signaling pathway_Homo sapiens_hsa040140.64737723
67Sphingolipid signaling pathway_Homo sapiens_hsa040710.63613761
68MAPK signaling pathway_Homo sapiens_hsa040100.63035332
69Oxidative phosphorylation_Homo sapiens_hsa001900.61979355
70Dorso-ventral axis formation_Homo sapiens_hsa043200.61136824
71Thyroid hormone signaling pathway_Homo sapiens_hsa049190.59461754
72Inositol phosphate metabolism_Homo sapiens_hsa005620.58773538
73Renal cell carcinoma_Homo sapiens_hsa052110.58659983
74Thyroid hormone synthesis_Homo sapiens_hsa049180.58290513
75Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.57621083
76Glucagon signaling pathway_Homo sapiens_hsa049220.57245448
77Oocyte meiosis_Homo sapiens_hsa041140.56292912
78Histidine metabolism_Homo sapiens_hsa003400.56086273
79Choline metabolism in cancer_Homo sapiens_hsa052310.56029768
80Alzheimers disease_Homo sapiens_hsa050100.53360428
81Rheumatoid arthritis_Homo sapiens_hsa053230.52855610
82Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.52249312
83Dilated cardiomyopathy_Homo sapiens_hsa054140.48705764
84Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.45778687
85Neurotrophin signaling pathway_Homo sapiens_hsa047220.43742522
86Alcoholism_Homo sapiens_hsa050340.43100508
87Rap1 signaling pathway_Homo sapiens_hsa040150.42680201
88Mineral absorption_Homo sapiens_hsa049780.41149599
89Steroid biosynthesis_Homo sapiens_hsa001000.41104797
90Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.40923327
91Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.40774402
92Prion diseases_Homo sapiens_hsa050200.40684378
93Circadian rhythm_Homo sapiens_hsa047100.40322311
94* Phagosome_Homo sapiens_hsa041450.40145655
95Parkinsons disease_Homo sapiens_hsa050120.39614083
96beta-Alanine metabolism_Homo sapiens_hsa004100.39143719
97Bile secretion_Homo sapiens_hsa049760.39043609
98Glycerophospholipid metabolism_Homo sapiens_hsa005640.38208763
99Ovarian steroidogenesis_Homo sapiens_hsa049130.37084697
100Butanoate metabolism_Homo sapiens_hsa006500.35911953
101Tight junction_Homo sapiens_hsa045300.35895778
102VEGF signaling pathway_Homo sapiens_hsa043700.33996654
103Carbohydrate digestion and absorption_Homo sapiens_hsa049730.33336813
104Fatty acid biosynthesis_Homo sapiens_hsa000610.31708311
105Arginine biosynthesis_Homo sapiens_hsa002200.31181215
106Longevity regulating pathway - mammal_Homo sapiens_hsa042110.29273210
1072-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.29179232
108Wnt signaling pathway_Homo sapiens_hsa043100.28938587
109Regulation of autophagy_Homo sapiens_hsa041400.28478144
110Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.28233802
111AMPK signaling pathway_Homo sapiens_hsa041520.27922287
112Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.27801815
113Chemokine signaling pathway_Homo sapiens_hsa040620.27568988
114mTOR signaling pathway_Homo sapiens_hsa041500.27455262
115Insulin signaling pathway_Homo sapiens_hsa049100.26420914
116Folate biosynthesis_Homo sapiens_hsa007900.22655888
117Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.21083906
118HIF-1 signaling pathway_Homo sapiens_hsa040660.20835289

Most similar genes based on co-expression Upload to Enrichr

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