MAPT

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 the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pyrimidine nucleobase catabolic process (GO:0006208)6.96527624
2layer formation in cerebral cortex (GO:0021819)5.87389860
3nucleobase catabolic process (GO:0046113)5.68750381
4neuron cell-cell adhesion (GO:0007158)5.68705381
5synaptic vesicle maturation (GO:0016188)5.60950193
6vocalization behavior (GO:0071625)5.51455758
7locomotory exploration behavior (GO:0035641)5.48598383
8regulation of short-term neuronal synaptic plasticity (GO:0048172)5.41713116
9positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.37627745
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.23022278
11protein localization to synapse (GO:0035418)5.07558397
12positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.05781338
13dendritic spine morphogenesis (GO:0060997)4.89575682
14synaptic vesicle exocytosis (GO:0016079)4.89544883
15exploration behavior (GO:0035640)4.87885575
16cellular potassium ion homeostasis (GO:0030007)4.76068576
17neuron recognition (GO:0008038)4.68923055
18regulation of glutamate receptor signaling pathway (GO:1900449)4.66698672
19glutamate secretion (GO:0014047)4.65719395
20dendrite morphogenesis (GO:0048813)4.64179573
21regulation of synaptic vesicle exocytosis (GO:2000300)4.63700657
22cell migration in hindbrain (GO:0021535)4.47681488
23regulation of synapse structural plasticity (GO:0051823)4.42184120
24postsynaptic membrane organization (GO:0001941)4.41824709
25axonal fasciculation (GO:0007413)4.32326597
26central nervous system projection neuron axonogenesis (GO:0021952)4.25852170
27sodium ion export (GO:0071436)4.21474626
28ionotropic glutamate receptor signaling pathway (GO:0035235)4.17473520
29proline transport (GO:0015824)4.06650775
30neurotransmitter-gated ion channel clustering (GO:0072578)3.99935950
31regulation of synaptic vesicle transport (GO:1902803)3.99167665
32neurotransmitter secretion (GO:0007269)3.96424271
33gamma-aminobutyric acid transport (GO:0015812)3.95238450
34negative regulation of microtubule polymerization (GO:0031115)3.93403365
35positive regulation of synapse maturation (GO:0090129)3.93355914
36synaptic vesicle docking involved in exocytosis (GO:0016081)3.92351365
37regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.88406142
38regulation of long-term neuronal synaptic plasticity (GO:0048169)3.84899185
39glutamate receptor signaling pathway (GO:0007215)3.82929731
40negative regulation of synaptic transmission, GABAergic (GO:0032229)3.80848516
41regulation of neuronal synaptic plasticity (GO:0048168)3.75992261
42synaptic transmission, glutamatergic (GO:0035249)3.71094603
43clathrin coat assembly (GO:0048268)3.68540506
44auditory behavior (GO:0031223)3.68194911
45membrane depolarization during action potential (GO:0086010)3.68158491
46presynaptic membrane assembly (GO:0097105)3.67809755
47cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.65558881
48regulation of dendritic spine morphogenesis (GO:0061001)3.56896826
49regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.54782909
50positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.52712165
51L-amino acid import (GO:0043092)3.52508296
52potassium ion homeostasis (GO:0055075)3.49806408
53cerebellar granule cell differentiation (GO:0021707)3.48066442
54presynaptic membrane organization (GO:0097090)3.47919310
55synapse assembly (GO:0007416)3.46279774
56neuron-neuron synaptic transmission (GO:0007270)3.45400216
57potassium ion import (GO:0010107)3.44788618
58regulation of voltage-gated calcium channel activity (GO:1901385)3.43708172
59transmission of nerve impulse (GO:0019226)3.43383125
60activation of protein kinase A activity (GO:0034199)3.43352985
61axon ensheathment in central nervous system (GO:0032291)3.42437695
62central nervous system myelination (GO:0022010)3.42437695
63membrane depolarization (GO:0051899)3.42284966
64positive regulation of membrane potential (GO:0045838)3.42241657
65neuromuscular synaptic transmission (GO:0007274)3.37302389
66central nervous system neuron axonogenesis (GO:0021955)3.35620730
67long-term memory (GO:0007616)3.31136213
68response to pheromone (GO:0019236)3.30124824
69positive regulation of dendritic spine development (GO:0060999)3.28251186
70regulation of neurotransmitter transport (GO:0051588)3.27149717
71neuromuscular process controlling balance (GO:0050885)3.25525348
72regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.24153848
73response to auditory stimulus (GO:0010996)3.23897967
74positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.23180626
75cell communication by electrical coupling (GO:0010644)3.23164749
76regulation of excitatory postsynaptic membrane potential (GO:0060079)3.22763478
77positive regulation of dendritic spine morphogenesis (GO:0061003)3.21508760
78regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.20697264
79neurotransmitter transport (GO:0006836)3.20536513
80adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.20038443
81positive regulation of neurotransmitter transport (GO:0051590)3.17647382
82negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.17495411
83positive regulation of synaptic transmission, GABAergic (GO:0032230)3.16229010
84regulation of dendritic spine development (GO:0060998)3.15549663
85regulation of cAMP-dependent protein kinase activity (GO:2000479)3.14040251
86cerebellar Purkinje cell differentiation (GO:0021702)3.13419170
87cerebral cortex radially oriented cell migration (GO:0021799)3.12150627
88amino acid import (GO:0043090)3.11001154
89neuronal action potential propagation (GO:0019227)3.10810032
90synapse organization (GO:0050808)3.10395078
91* organelle transport along microtubule (GO:0072384)3.10282432
92regulation of postsynaptic membrane potential (GO:0060078)3.10271337
93regulation of synapse maturation (GO:0090128)3.08705320
94regulation of neurotransmitter secretion (GO:0046928)3.07053773
95* axon extension (GO:0048675)3.06151067
96synaptic vesicle endocytosis (GO:0048488)3.05280537
97membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.04506864
98cellular sodium ion homeostasis (GO:0006883)3.03989277
99cerebellar Purkinje cell layer development (GO:0021680)3.03519568
100regulation of vesicle fusion (GO:0031338)3.03022771
101dendritic spine organization (GO:0097061)3.02586002
102vesicle transport along microtubule (GO:0047496)3.02392631
103positive regulation of synapse assembly (GO:0051965)3.02232274
104positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.01100210
105cerebellum development (GO:0021549)3.00548415
106membrane hyperpolarization (GO:0060081)2.99098355
107dendrite development (GO:0016358)2.99051035
108dopamine receptor signaling pathway (GO:0007212)2.98934394
109positive regulation of neurotransmitter secretion (GO:0001956)2.98391191
110synaptic transmission (GO:0007268)2.97745609
111positive regulation of filopodium assembly (GO:0051491)2.97216886
112neuromuscular process (GO:0050905)2.95437799
113regulation of synaptic transmission, glutamatergic (GO:0051966)2.95277467
114cerebral cortex neuron differentiation (GO:0021895)2.94319979
115regulation of neurotransmitter levels (GO:0001505)2.91645169
116intraspecies interaction between organisms (GO:0051703)2.90239215
117social behavior (GO:0035176)2.90239215
118regulation of synaptic plasticity (GO:0048167)2.90149868
119mechanosensory behavior (GO:0007638)2.90140608
120learning (GO:0007612)2.88598211
121innervation (GO:0060384)2.88349793
122neuronal ion channel clustering (GO:0045161)2.86193599
123negative regulation of axonogenesis (GO:0050771)2.86110399
124gamma-aminobutyric acid signaling pathway (GO:0007214)2.85723771
125prepulse inhibition (GO:0060134)2.85308198
126G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.84115526
127hippocampus development (GO:0021766)2.83099467

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.77725794
2GBX2_23144817_ChIP-Seq_PC3_Human3.40742596
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.05919344
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.03027508
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.85711494
6REST_21632747_ChIP-Seq_MESCs_Mouse2.71232139
7EZH2_27304074_Chip-Seq_ESCs_Mouse2.69892032
8NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.60058216
9* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.59991012
10* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.59991012
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.55146525
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.48247475
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.43614812
14* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.42148021
15* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.40438389
16* EZH2_27294783_Chip-Seq_ESCs_Mouse2.39689472
17* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.37921025
18DROSHA_22980978_ChIP-Seq_HELA_Human2.37561409
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.35059788
20* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.29990102
21AR_21572438_ChIP-Seq_LNCaP_Human2.22240158
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.20019571
23CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.17938070
24* REST_18959480_ChIP-ChIP_MESCs_Mouse2.17340392
25* RARB_27405468_Chip-Seq_BRAIN_Mouse2.15239369
26EED_16625203_ChIP-ChIP_MESCs_Mouse2.14503103
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.10356416
28RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.90174565
29EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.89192142
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.85143978
31MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.72569578
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.67161694
33ZNF274_21170338_ChIP-Seq_K562_Hela1.66618845
34TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.63677273
35TAF15_26573619_Chip-Seq_HEK293_Human1.59743670
36IKZF1_21737484_ChIP-ChIP_HCT116_Human1.56898280
37PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.56372802
38SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.48789815
39SMAD4_21799915_ChIP-Seq_A2780_Human1.46139735
40CBX2_27304074_Chip-Seq_ESCs_Mouse1.45345989
41ZFP57_27257070_Chip-Seq_ESCs_Mouse1.44424771
42ERG_21242973_ChIP-ChIP_JURKAT_Human1.43337918
43THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.42731155
44* RING1B_27294783_Chip-Seq_ESCs_Mouse1.41396942
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.38049275
46PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.35689950
47* SOX2_21211035_ChIP-Seq_LN229_Gbm1.34014764
48RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.32674253
49* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.31975518
50OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30442979
51* RING1B_27294783_Chip-Seq_NPCs_Mouse1.29972840
52SMAD3_21741376_ChIP-Seq_EPCs_Human1.27409404
53IGF1R_20145208_ChIP-Seq_DFB_Human1.27358602
54BMI1_23680149_ChIP-Seq_NPCS_Mouse1.27357648
55RNF2_27304074_Chip-Seq_NSC_Mouse1.27073841
56NR3C1_23031785_ChIP-Seq_PC12_Mouse1.26929241
57RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.24600804
58TOP2B_26459242_ChIP-Seq_MCF-7_Human1.22764243
59* P300_19829295_ChIP-Seq_ESCs_Human1.22020745
60CDX2_19796622_ChIP-Seq_MESCs_Mouse1.20211589
61ZFP281_18757296_ChIP-ChIP_E14_Mouse1.19667696
62TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.19572301
63P53_22127205_ChIP-Seq_FIBROBLAST_Human1.18927947
64AR_25329375_ChIP-Seq_VCAP_Human1.16797524
65AR_19668381_ChIP-Seq_PC3_Human1.16204668
66* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.16113870
67KDM2B_26808549_Chip-Seq_K562_Human1.14886867
68STAT3_23295773_ChIP-Seq_U87_Human1.13736987
69CTCF_27219007_Chip-Seq_Bcells_Human1.13288431
70* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.12137617
71* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.11692548
72ARNT_22903824_ChIP-Seq_MCF-7_Human1.11041157
73PIAS1_25552417_ChIP-Seq_VCAP_Human1.08506640
74TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.07797087
75* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.07617455
76AHR_22903824_ChIP-Seq_MCF-7_Human1.07230000
77ZNF217_24962896_ChIP-Seq_MCF-7_Human1.06404032
78TP53_20018659_ChIP-ChIP_R1E_Mouse1.05158509
79* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.04523273
80AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.03271363
81VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.02163153
82SMAD4_21741376_ChIP-Seq_HESCs_Human0.99625545
83POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.99309949
84TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99309949
85TCF4_23295773_ChIP-Seq_U87_Human0.99309215
86POU3F2_20337985_ChIP-ChIP_501MEL_Human0.99070573
87TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98871666
88GATA1_26923725_Chip-Seq_HPCs_Mouse0.98562628
89SMAD3_21741376_ChIP-Seq_ESCs_Human0.97386657
90MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97378044
91EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.97037790
92* SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.96437618
93CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.96388180
94* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.96354011
95OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.95274762
96TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.94234169
97GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94104517
98PRDM14_20953172_ChIP-Seq_ESCs_Human0.93900875
99RUNX2_22187159_ChIP-Seq_PCA_Human0.93825254
100RBPJ_22232070_ChIP-Seq_NCS_Mouse0.93331808
101NR3C1_21868756_ChIP-Seq_MCF10A_Human0.92649547
102SMAD_19615063_ChIP-ChIP_OVARY_Human0.90175591
103ER_23166858_ChIP-Seq_MCF-7_Human0.90121235
104JUN_21703547_ChIP-Seq_K562_Human0.89014804
105STAT6_21828071_ChIP-Seq_BEAS2B_Human0.88475169
106LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87576767
107CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86672564
108CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.86562461
109FUS_26573619_Chip-Seq_HEK293_Human0.86388441
110TET1_21490601_ChIP-Seq_MESCs_Mouse0.86386850
111UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.85818927
112KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.80529101
113FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.78525508
114TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.78472794
115PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.76656155
116SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.76051854
117* ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.75848877
118SOX9_26525672_Chip-Seq_HEART_Mouse0.75543059

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.97185153
2MP0004270_analgesia4.39133048
3MP0003880_abnormal_central_pattern4.35216655
4* MP0003635_abnormal_synaptic_transmissio3.91322765
5MP0005423_abnormal_somatic_nervous3.72459004
6* MP0002063_abnormal_learning/memory/cond3.24080760
7MP0002734_abnormal_mechanical_nocicepti3.09448210
8MP0000778_abnormal_nervous_system3.00582309
9* MP0009745_abnormal_behavioral_response2.89153197
10MP0001968_abnormal_touch/_nociception2.79163999
11* MP0002064_seizures2.64779724
12MP0009046_muscle_twitch2.59636392
13MP0002735_abnormal_chemical_nociception2.59310991
14* MP0002572_abnormal_emotion/affect_behav2.55924847
15MP0001486_abnormal_startle_reflex2.46814479
16MP0002733_abnormal_thermal_nociception2.44568918
17MP0002184_abnormal_innervation2.28695729
18MP0009780_abnormal_chondrocyte_physiolo2.24773868
19MP0002272_abnormal_nervous_system2.16628604
20MP0001970_abnormal_pain_threshold2.11593500
21MP0002736_abnormal_nociception_after2.02436846
22MP0006276_abnormal_autonomic_nervous1.97359732
23MP0000955_abnormal_spinal_cord1.96864003
24MP0004858_abnormal_nervous_system1.94980585
25MP0004924_abnormal_behavior1.92575506
26MP0005386_behavior/neurological_phenoty1.92575506
27* MP0004811_abnormal_neuron_physiology1.92147120
28MP0002067_abnormal_sensory_capabilities1.91130065
29* MP0001440_abnormal_grooming_behavior1.90535209
30MP0004885_abnormal_endolymph1.87186621
31* MP0002557_abnormal_social/conspecific_i1.82031942
32* MP0002882_abnormal_neuron_morphology1.64694669
33MP0008569_lethality_at_weaning1.64509406
34MP0001501_abnormal_sleep_pattern1.56863706
35MP0002909_abnormal_adrenal_gland1.54585477
36MP0002822_catalepsy1.50297953
37* MP0002066_abnormal_motor_capabilities/c1.49835529
38MP0000569_abnormal_digit_pigmentation1.49833870
39MP0001984_abnormal_olfaction1.42600946
40MP0005645_abnormal_hypothalamus_physiol1.38415701
41* MP0002152_abnormal_brain_morphology1.37857547
42MP0001348_abnormal_lacrimal_gland1.36676796
43MP0001529_abnormal_vocalization1.31445112
44MP0002638_abnormal_pupillary_reflex1.30441591
45MP0003123_paternal_imprinting1.30354788
46MP0003879_abnormal_hair_cell1.29425479
47MP0004742_abnormal_vestibular_system1.26370030
48MP0001905_abnormal_dopamine_level1.26041542
49* MP0003329_amyloid_beta_deposits1.25495280
50MP0004142_abnormal_muscle_tone1.23311058
51MP0003634_abnormal_glial_cell1.16253162
52MP0003121_genomic_imprinting1.15588630
53MP0003633_abnormal_nervous_system1.13316874
54MP0001502_abnormal_circadian_rhythm1.11461290
55MP0001188_hyperpigmentation1.11441652
56MP0000920_abnormal_myelination1.08236955
57MP0000751_myopathy1.07195400
58MP0000631_abnormal_neuroendocrine_gland1.06895860
59MP0003787_abnormal_imprinting1.06517410
60MP0002229_neurodegeneration1.04729840
61MP0003122_maternal_imprinting0.98354383
62* MP0003861_abnormal_nervous_system0.97701703
63* MP0002752_abnormal_somatic_nervous0.97598493
64* MP0003631_nervous_system_phenotype0.95842430
65MP0005646_abnormal_pituitary_gland0.95100401
66MP0002069_abnormal_eating/drinking_beha0.93433567
67MP0003137_abnormal_impulse_conducting0.93372264
68MP0005187_abnormal_penis_morphology0.92809964
69MP0008877_abnormal_DNA_methylation0.89526712
70MP0004145_abnormal_muscle_electrophysio0.88032094
71MP0005499_abnormal_olfactory_system0.87288304
72MP0005394_taste/olfaction_phenotype0.87288304
73MP0005409_darkened_coat_color0.86912248
74MP0002102_abnormal_ear_morphology0.86799616
75MP0001963_abnormal_hearing_physiology0.85655313
76MP0004085_abnormal_heartbeat0.85162940
77MP0001299_abnormal_eye_distance/0.83051469
78MP0005551_abnormal_eye_electrophysiolog0.81667488
79MP0000537_abnormal_urethra_morphology0.78154247
80MP0001177_atelectasis0.77215112
81MP0000566_synostosis0.76691730
82MP0001986_abnormal_taste_sensitivity0.75404436
83MP0003690_abnormal_glial_cell0.74043071
84MP0010386_abnormal_urinary_bladder0.69053354
85MP0003283_abnormal_digestive_organ0.68913595
86MP0002653_abnormal_ependyma_morphology0.68908207
87MP0004233_abnormal_muscle_weight0.68792762
88MP0004130_abnormal_muscle_cell0.68466117
89MP0002837_dystrophic_cardiac_calcinosis0.67620565
90* MP0003632_abnormal_nervous_system0.67239567
91MP0002090_abnormal_vision0.66046137
92MP0003119_abnormal_digestive_system0.63724425
93MP0000579_abnormal_nail_morphology0.63328549
94MP0000026_abnormal_inner_ear0.63313143
95MP0005623_abnormal_meninges_morphology0.62431786
96MP0010769_abnormal_survival0.62252728
97MP0008872_abnormal_physiological_respon0.62174843
98MP0005535_abnormal_body_temperature0.62016948
99MP0002082_postnatal_lethality0.61937577
100MP0010770_preweaning_lethality0.61937577
101MP0003938_abnormal_ear_development0.61032312
102MP0006072_abnormal_retinal_apoptosis0.60663491
103MP0008874_decreased_physiological_sensi0.59938589
104MP0001943_abnormal_respiration0.59705039
105MP0008961_abnormal_basal_metabolism0.58502013
106MP0004215_abnormal_myocardial_fiber0.58349290
107MP0010768_mortality/aging0.58094559
108MP0002081_perinatal_lethality0.57711212
109MP0001485_abnormal_pinna_reflex0.57689477
110MP0005167_abnormal_blood-brain_barrier0.53926434
111MP0004133_heterotaxia0.53478722

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)6.00674868
2Focal motor seizures (HP:0011153)4.99926318
3Visual hallucinations (HP:0002367)4.85198880
4Focal seizures (HP:0007359)4.73097457
5Abnormality of the corticospinal tract (HP:0002492)4.52775733
6Ankle clonus (HP:0011448)4.33398944
7Epileptic encephalopathy (HP:0200134)4.28531130
8Broad-based gait (HP:0002136)3.97453776
9Papilledema (HP:0001085)3.86923749
10Progressive cerebellar ataxia (HP:0002073)3.80497924
11Excessive salivation (HP:0003781)3.66413332
12Drooling (HP:0002307)3.66413332
13Insidious onset (HP:0003587)3.58011226
14Termporal pattern (HP:0011008)3.58011226
15Poor eye contact (HP:0000817)3.44463910
16Action tremor (HP:0002345)3.33676812
17Urinary bladder sphincter dysfunction (HP:0002839)3.28894179
18Urinary urgency (HP:0000012)3.28793024
19Spastic gait (HP:0002064)3.27225393
20Progressive inability to walk (HP:0002505)3.15509899
21Atonic seizures (HP:0010819)3.12896802
22Hyperventilation (HP:0002883)3.10814832
23Absence seizures (HP:0002121)3.09356175
24Generalized tonic-clonic seizures (HP:0002069)3.07089677
25Impaired social interactions (HP:0000735)3.03782889
26Abnormal social behavior (HP:0012433)3.03782889
27Status epilepticus (HP:0002133)2.98837774
28* Supranuclear gaze palsy (HP:0000605)2.95504340
29Hemiparesis (HP:0001269)2.94178604
30Megalencephaly (HP:0001355)2.93591686
31Genetic anticipation (HP:0003743)2.91491866
32Febrile seizures (HP:0002373)2.89103115
33Impaired vibration sensation in the lower limbs (HP:0002166)2.89042259
34Hemiplegia (HP:0002301)2.88195103
35Dialeptic seizures (HP:0011146)2.85727408
36Obstructive sleep apnea (HP:0002870)2.81353276
37Depression (HP:0000716)2.79589979
38Degeneration of the lateral corticospinal tracts (HP:0002314)2.79405683
39Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.79405683
40Agitation (HP:0000713)2.73290372
41Amblyopia (HP:0000646)2.72134272
42Lower limb muscle weakness (HP:0007340)2.71733613
43Hypoplasia of the brainstem (HP:0002365)2.71282865
44Aplasia/Hypoplasia of the brainstem (HP:0007362)2.71282865
45Cerebral hypomyelination (HP:0006808)2.70854318
46EEG with generalized epileptiform discharges (HP:0011198)2.70800033
47Hypsarrhythmia (HP:0002521)2.66660916
48Epileptiform EEG discharges (HP:0011182)2.66201029
49Pachygyria (HP:0001302)2.64838168
50Fetal akinesia sequence (HP:0001989)2.63957617
51Dysmetria (HP:0001310)2.60774982
52Anxiety (HP:0000739)2.59422650
53Lissencephaly (HP:0001339)2.57796926
54Inability to walk (HP:0002540)2.57532831
55Truncal ataxia (HP:0002078)2.55174052
56Abnormality of the lower motor neuron (HP:0002366)2.55045273
57Dysdiadochokinesis (HP:0002075)2.53154837
58Pheochromocytoma (HP:0002666)2.52093107
59* Abnormality of binocular vision (HP:0011514)2.51917323
60* Diplopia (HP:0000651)2.51917323
61Intention tremor (HP:0002080)2.48836759
62Postural instability (HP:0002172)2.43106110
63Abnormality of salivation (HP:0100755)2.39521067
64* Mutism (HP:0002300)2.39398088
65Insomnia (HP:0100785)2.35262691
66Gaze-evoked nystagmus (HP:0000640)2.33701032
67Sleep apnea (HP:0010535)2.32800402
68Absent speech (HP:0001344)2.31612128
69Clonus (HP:0002169)2.28189079
70Spastic tetraparesis (HP:0001285)2.26944771
71Aqueductal stenosis (HP:0002410)2.26728634
72Tetraplegia (HP:0002445)2.23616967
73* Focal dystonia (HP:0004373)2.22220585
74Hepatoblastoma (HP:0002884)2.19374601
75Lower limb amyotrophy (HP:0007210)2.15768732
76Delusions (HP:0000746)2.13746258
77Annular pancreas (HP:0001734)2.12533548
78* Morphological abnormality of the pyramidal tract (HP:0002062)2.12403923
79Paraplegia (HP:0010550)2.10579734
80* Polyphagia (HP:0002591)2.10243620
81Neuroendocrine neoplasm (HP:0100634)2.09898076
82Scanning speech (HP:0002168)2.09284832
83* Abnormal eating behavior (HP:0100738)2.08849717
84Prolonged QT interval (HP:0001657)2.08628261
85Generalized myoclonic seizures (HP:0002123)2.08491738
86Spastic paraplegia (HP:0001258)2.07803678
87Incomplete penetrance (HP:0003829)2.04263873
88Specific learning disability (HP:0001328)1.99952989
89Hypoplasia of the corpus callosum (HP:0002079)1.98759365
90Sacral dimple (HP:0000960)1.95706854
91Myotonia (HP:0002486)1.95391160
92* Bradykinesia (HP:0002067)1.94845014
93* Craniofacial dystonia (HP:0012179)1.94228014
94Abnormal EKG (HP:0003115)1.91877087
95CNS hypomyelination (HP:0003429)1.91819939
96* Limb dystonia (HP:0002451)1.91772168
97* Stereotypic behavior (HP:0000733)1.90583413
98Blue irides (HP:0000635)1.90077387
99Impaired smooth pursuit (HP:0007772)1.89905780
100Cortical dysplasia (HP:0002539)1.88824095
101Rapidly progressive (HP:0003678)1.87176388
102* Torticollis (HP:0000473)1.85374831
103Spastic tetraplegia (HP:0002510)1.84397998
104Exotropia (HP:0000577)1.83695056
105Protruding tongue (HP:0010808)1.83417290
106Open mouth (HP:0000194)1.80288519
107Poor suck (HP:0002033)1.78517937
108* Cerebral inclusion bodies (HP:0100314)1.75945139
109* Neurofibrillary tangles (HP:0002185)1.75944587
110Impaired vibratory sensation (HP:0002495)1.73747044
111Muscular hypotonia of the trunk (HP:0008936)1.73436061
112Partial agenesis of the corpus callosum (HP:0001338)1.72858303
113Neoplasm of the peripheral nervous system (HP:0100007)1.72796541
114Split foot (HP:0001839)1.72703132
115* Inappropriate behavior (HP:0000719)1.72681293
116Syncope (HP:0001279)1.72546060
117Ventricular fibrillation (HP:0001663)1.71357473
118Hyperthyroidism (HP:0000836)1.71230808
119Intellectual disability, severe (HP:0010864)1.70911036
120Peripheral hypomyelination (HP:0007182)1.70540620
121Esotropia (HP:0000565)1.70223490
122Failure to thrive in infancy (HP:0001531)1.69868559
123Intellectual disability, profound (HP:0002187)1.69543551
124Abnormality of ocular smooth pursuit (HP:0000617)1.68765201
125Psychosis (HP:0000709)1.68702627

Predicted kinase interactions (KEA)

RankGene SetZ-score
1* MARK16.79582479
2MAP3K94.06236562
3NTRK33.14635497
4MINK12.99473401
5MAP3K42.78409134
6NTRK22.72768566
7EPHA42.45625120
8MAP2K72.39683232
9PAK62.31622744
10CASK2.17382049
11DAPK22.12909577
12LATS22.12152864
13SIK21.83873504
14NTRK11.79948801
15KSR11.71219668
16* DYRK21.65429490
17TNIK1.61348939
18CSNK1G21.59867403
19ERBB31.59185401
20PNCK1.59043731
21PINK11.58693506
22MAP2K41.58189257
23* CDK51.56026293
24KSR21.51714458
25UHMK11.49782767
26CAMKK11.48081191
27LIMK11.29812440
28PLK21.25989391
29TYRO31.21205629
30PAK31.19394914
31SGK21.18293042
32* MAPK131.15760418
33PRKD31.13847607
34CSNK1G31.13696597
35GRK51.13540586
36CDK191.12297482
37MAP3K121.11748263
38PRPF4B1.11271741
39STK111.00891390
40RET0.99984969
41DAPK10.98787092
42MAP3K20.98639846
43OXSR10.98168038
44CSNK1A1L0.97975104
45TAOK10.94530811
46* CDK140.85773803
47SGK30.85292398
48MAP3K60.82590558
49EPHB20.80394082
50* CDK180.78475415
51* PRKCG0.78402107
52ALK0.77930286
53SCYL20.77911648
54* CDK150.77828506
55* CAMK2A0.76666364
56ARAF0.75034564
57RPS6KA20.74409843
58CAMK2B0.74407430
59CAMK40.72758833
60STK390.72232149
61FES0.71314033
62FGFR20.71157130
63CSNK1G10.70868396
64SGK2230.70844150
65SGK4940.70844150
66WNK30.69639378
67BCR0.69391290
68MAP2K60.68043648
69* CDK11A0.66787037
70CAMKK20.65939486
71* PRKCZ0.64616824
72CAMK1G0.62232997
73ICK0.59262623
74LMTK20.58738126
75NEK60.58029069
76PRKCH0.57607356
77* FYN0.56956107
78CAMK10.56595292
79STK380.55983526
80CCNB10.51243733
81OBSCN0.46349458
82FGR0.46167772
83* PKN10.44181413
84* RPS6KA30.42886048
85* PHKG20.42798907
86* PHKG10.42798907
87WNK10.40991452
88* PRKACA0.40816220
89ERBB20.39750905
90PDPK10.39700439
91BRSK10.38611568
92MAP3K110.38515908
93* MAPK90.38073092
94ROCK20.38067185
95CDC42BPA0.37611301
96MAPKAPK50.37591821
97MAPK100.37454672
98* SGK10.36531694
99TESK10.36435269
100* PRKCE0.36001521
101PDK10.35751996
102CAMK2D0.35690715
103WNK40.34558076
104RIPK10.34116630
105ROCK10.33842464
106* PRKCA0.33383891
107CAMK1D0.32431042
108* DYRK1A0.32294457
109DYRK1B0.32207765
110CSNK1A10.32083189
111DAPK30.32015417
112RAF10.32014741
113MAPK40.31937812
114CSNK1E0.31331725
115CAMK2G0.31056448
116* MAPK120.30572456
117* MAPK80.29961664
118TNK20.29920568
119* PRKCB0.28507755
120* PRKG10.27817268
121* GSK3B0.27144879
122MAP2K10.25911360

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.31289358
2Synaptic vesicle cycle_Homo sapiens_hsa047212.98481829
3GABAergic synapse_Homo sapiens_hsa047272.59000389
4Circadian entrainment_Homo sapiens_hsa047132.52072500
5Glutamatergic synapse_Homo sapiens_hsa047242.48505902
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.47845447
7Morphine addiction_Homo sapiens_hsa050322.33156092
8Olfactory transduction_Homo sapiens_hsa047402.33142268
9Long-term potentiation_Homo sapiens_hsa047202.28937341
10Dopaminergic synapse_Homo sapiens_hsa047282.20008344
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.19018427
12Axon guidance_Homo sapiens_hsa043602.16295312
13Cholinergic synapse_Homo sapiens_hsa047251.98729227
14Amphetamine addiction_Homo sapiens_hsa050311.97021804
15Salivary secretion_Homo sapiens_hsa049701.81664834
16Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.73923927
17Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.72843147
18Long-term depression_Homo sapiens_hsa047301.71468492
19Serotonergic synapse_Homo sapiens_hsa047261.70817886
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.65555622
21Insulin secretion_Homo sapiens_hsa049111.65020799
22Gastric acid secretion_Homo sapiens_hsa049711.64328128
23Cocaine addiction_Homo sapiens_hsa050301.64299866
24Gap junction_Homo sapiens_hsa045401.62383193
25Renin secretion_Homo sapiens_hsa049241.62144183
26Aldosterone synthesis and secretion_Homo sapiens_hsa049251.59193205
27Taste transduction_Homo sapiens_hsa047421.57717006
28Oxytocin signaling pathway_Homo sapiens_hsa049211.53350305
29GnRH signaling pathway_Homo sapiens_hsa049121.34404740
30ErbB signaling pathway_Homo sapiens_hsa040121.29058476
31Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.28814304
32Estrogen signaling pathway_Homo sapiens_hsa049151.27612573
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.24373284
34Type II diabetes mellitus_Homo sapiens_hsa049301.22689396
35Calcium signaling pathway_Homo sapiens_hsa040201.18702521
36Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.15431088
37Glioma_Homo sapiens_hsa052141.15132393
38Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.09786741
39cAMP signaling pathway_Homo sapiens_hsa040241.08393241
40Melanogenesis_Homo sapiens_hsa049161.06652973
41Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.02868048
42Collecting duct acid secretion_Homo sapiens_hsa049661.02179277
43Renal cell carcinoma_Homo sapiens_hsa052110.99961891
44Endometrial cancer_Homo sapiens_hsa052130.98874796
45Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.97282785
46Vitamin B6 metabolism_Homo sapiens_hsa007500.97198025
47Cardiac muscle contraction_Homo sapiens_hsa042600.94313289
48cGMP-PKG signaling pathway_Homo sapiens_hsa040220.90347182
49Phospholipase D signaling pathway_Homo sapiens_hsa040720.88940932
50Oocyte meiosis_Homo sapiens_hsa041140.87605849
51Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.86513974
52Dorso-ventral axis formation_Homo sapiens_hsa043200.84277437
53Colorectal cancer_Homo sapiens_hsa052100.82324666
54Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.81558983
55Phototransduction_Homo sapiens_hsa047440.81310133
56Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.80259158
57Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.80111089
58Neurotrophin signaling pathway_Homo sapiens_hsa047220.79044485
59Choline metabolism in cancer_Homo sapiens_hsa052310.78810167
60Phosphatidylinositol signaling system_Homo sapiens_hsa040700.78623166
61Vascular smooth muscle contraction_Homo sapiens_hsa042700.77847127
62Sphingolipid signaling pathway_Homo sapiens_hsa040710.76700944
63Ras signaling pathway_Homo sapiens_hsa040140.74642945
64VEGF signaling pathway_Homo sapiens_hsa043700.74420233
65Vibrio cholerae infection_Homo sapiens_hsa051100.73740970
66Dilated cardiomyopathy_Homo sapiens_hsa054140.70723088
67Butanoate metabolism_Homo sapiens_hsa006500.69880933
68* MAPK signaling pathway_Homo sapiens_hsa040100.66768963
69Alcoholism_Homo sapiens_hsa050340.65957273
70Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.64614968
71Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.62565401
72Endocytosis_Homo sapiens_hsa041440.61471447
73Carbohydrate digestion and absorption_Homo sapiens_hsa049730.61399475
74Wnt signaling pathway_Homo sapiens_hsa043100.58835067
75Prion diseases_Homo sapiens_hsa050200.58490682
76Circadian rhythm_Homo sapiens_hsa047100.58006195
77mTOR signaling pathway_Homo sapiens_hsa041500.57984458
78Insulin signaling pathway_Homo sapiens_hsa049100.57553443
79Rap1 signaling pathway_Homo sapiens_hsa040150.56566686
80Pancreatic secretion_Homo sapiens_hsa049720.56391795
81Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.55253383
82Thyroid hormone synthesis_Homo sapiens_hsa049180.55049453
83Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.54158418
84Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.52008071
85Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.50120349
86Thyroid hormone signaling pathway_Homo sapiens_hsa049190.49908396
87Alzheimers disease_Homo sapiens_hsa050100.49216292
88Longevity regulating pathway - mammal_Homo sapiens_hsa042110.48570311
89Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.48395805
90Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.46537544
91Non-small cell lung cancer_Homo sapiens_hsa052230.44441014
92Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.44052550
93Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.43548890
94Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.42946908
95Tight junction_Homo sapiens_hsa045300.41989314
96Glucagon signaling pathway_Homo sapiens_hsa049220.41343683
97Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.40777497
98Ovarian steroidogenesis_Homo sapiens_hsa049130.39960565
99AMPK signaling pathway_Homo sapiens_hsa041520.39445181
100Inositol phosphate metabolism_Homo sapiens_hsa005620.39418105
101Fatty acid biosynthesis_Homo sapiens_hsa000610.37851927
102Hedgehog signaling pathway_Homo sapiens_hsa043400.37756097
103Viral myocarditis_Homo sapiens_hsa054160.37166634
104Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.37033929
105Bile secretion_Homo sapiens_hsa049760.36882448
106Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.36085151
107Hippo signaling pathway_Homo sapiens_hsa043900.35531514
108Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.35340830
109Chemokine signaling pathway_Homo sapiens_hsa040620.35095723
110Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.33042100
111Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.29777434
112Arginine and proline metabolism_Homo sapiens_hsa003300.27605745
113beta-Alanine metabolism_Homo sapiens_hsa004100.26192393
114Parkinsons disease_Homo sapiens_hsa050120.25888797

Most similar genes based on co-expression Upload to Enrichr

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