TCEAL5

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, which is located on the X chromosome, encodes a protein which contains a BEX (brain expressed X-liked like family) domain. This domain is found in proteins encoded by the TCEAL elongation factor (transcription elongation factor A (SII)-like) gene family also located on the X chromosome. The coding region for this gene is located entirely in the terminal exon. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1vocalization behavior (GO:0071625)5.81209458
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.74748104
3synaptic vesicle exocytosis (GO:0016079)5.65216958
4regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.51050775
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.39123028
6protein localization to synapse (GO:0035418)5.11600311
7neuron cell-cell adhesion (GO:0007158)5.07811937
8regulation of glutamate receptor signaling pathway (GO:1900449)5.05803684
9positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.99185345
10locomotory exploration behavior (GO:0035641)4.89596532
11ionotropic glutamate receptor signaling pathway (GO:0035235)4.87850862
12glutamate secretion (GO:0014047)4.83638038
13synaptic vesicle maturation (GO:0016188)4.78860366
14pyrimidine nucleobase catabolic process (GO:0006208)4.69108068
15regulation of synaptic vesicle exocytosis (GO:2000300)4.65642498
16neuronal action potential propagation (GO:0019227)4.62989767
17regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.60487200
18glutamate receptor signaling pathway (GO:0007215)4.55106658
19neurotransmitter secretion (GO:0007269)4.36609000
20neuron-neuron synaptic transmission (GO:0007270)4.29335596
21regulation of long-term neuronal synaptic plasticity (GO:0048169)4.26385990
22exploration behavior (GO:0035640)4.26375536
23synaptic transmission, glutamatergic (GO:0035249)4.22234659
24gamma-aminobutyric acid signaling pathway (GO:0007214)4.20509654
25regulation of synaptic vesicle transport (GO:1902803)4.18886527
26neurotransmitter-gated ion channel clustering (GO:0072578)4.08627191
27synaptic vesicle docking involved in exocytosis (GO:0016081)4.06221324
28positive regulation of synapse maturation (GO:0090129)4.05318094
29regulation of neuronal synaptic plasticity (GO:0048168)4.05250773
30negative regulation of synaptic transmission, GABAergic (GO:0032229)4.03195182
31regulation of excitatory postsynaptic membrane potential (GO:0060079)3.99044153
32nucleobase catabolic process (GO:0046113)3.91977635
33layer formation in cerebral cortex (GO:0021819)3.91464542
34neurofilament cytoskeleton organization (GO:0060052)3.90331005
35regulation of synapse structural plasticity (GO:0051823)3.90268994
36cell migration in hindbrain (GO:0021535)3.88955272
37neuron recognition (GO:0008038)3.88951117
38long-term memory (GO:0007616)3.85107939
39auditory behavior (GO:0031223)3.84719005
40regulation of postsynaptic membrane potential (GO:0060078)3.81501676
41neurotransmitter transport (GO:0006836)3.75423469
42axon ensheathment in central nervous system (GO:0032291)3.74746183
43central nervous system myelination (GO:0022010)3.74746183
44dendritic spine morphogenesis (GO:0060997)3.73761311
45positive regulation of membrane potential (GO:0045838)3.72059296
46neuronal ion channel clustering (GO:0045161)3.71982721
47gamma-aminobutyric acid transport (GO:0015812)3.71345975
48synaptic vesicle endocytosis (GO:0048488)3.69737060
49response to histamine (GO:0034776)3.69258829
50regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.66883226
51long-term synaptic potentiation (GO:0060291)3.66249407
52regulation of glutamate secretion (GO:0014048)3.63056541
53G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.58568521
54transmission of nerve impulse (GO:0019226)3.58298980
55establishment of mitochondrion localization (GO:0051654)3.57391706
56membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.56442449
57regulation of dendritic spine morphogenesis (GO:0061001)3.52424366
58behavioral response to nicotine (GO:0035095)3.52407912
59positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.52209523
60presynaptic membrane assembly (GO:0097105)3.50514219
61postsynaptic membrane organization (GO:0001941)3.50311500
62regulation of synaptic plasticity (GO:0048167)3.50211972
63behavioral response to cocaine (GO:0048148)3.47704293
64regulation of synaptic transmission, glutamatergic (GO:0051966)3.47545350
65regulation of neurotransmitter levels (GO:0001505)3.47347209
66regulation of vesicle fusion (GO:0031338)3.42978210
67behavioral fear response (GO:0001662)3.41883803
68behavioral defense response (GO:0002209)3.41883803
69proline transport (GO:0015824)3.40019101
70response to auditory stimulus (GO:0010996)3.35886303
71cellular potassium ion homeostasis (GO:0030007)3.32655957
72negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.32453291
73neuromuscular synaptic transmission (GO:0007274)3.32199501
74positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.30119873
75axonal fasciculation (GO:0007413)3.29621637
76presynaptic membrane organization (GO:0097090)3.28856565
77regulation of neurotransmitter secretion (GO:0046928)3.26903369
78regulation of synapse maturation (GO:0090128)3.26184825
79adult walking behavior (GO:0007628)3.25814562
80membrane depolarization (GO:0051899)3.24611576
81positive regulation of synaptic transmission, GABAergic (GO:0032230)3.23359147
82startle response (GO:0001964)3.22706582
83fear response (GO:0042596)3.22445347
84positive regulation of neurotransmitter secretion (GO:0001956)3.18827796
85regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.18425349
86mechanosensory behavior (GO:0007638)3.17796239
87positive regulation of dendritic spine morphogenesis (GO:0061003)3.14137764
88learning (GO:0007612)3.13591129
89membrane hyperpolarization (GO:0060081)3.13157444
90intraspecies interaction between organisms (GO:0051703)3.11609833
91social behavior (GO:0035176)3.11609833
92positive regulation of neurotransmitter transport (GO:0051590)3.11175580
93central nervous system projection neuron axonogenesis (GO:0021952)3.10922681
94positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.10557020
95regulation of dendritic spine development (GO:0060998)3.10139983
96positive regulation of dendritic spine development (GO:0060999)3.09825071
97mating behavior (GO:0007617)3.09354277
98synaptic transmission (GO:0007268)3.08809099
99cerebellar Purkinje cell differentiation (GO:0021702)3.08524294
100detection of calcium ion (GO:0005513)3.07887340
101synaptic transmission, dopaminergic (GO:0001963)3.05975745
102regulation of neurotransmitter transport (GO:0051588)3.05669593
103synapse assembly (GO:0007416)3.05267147
104activation of protein kinase A activity (GO:0034199)3.04859520
105female mating behavior (GO:0060180)3.03999388
106regulation of voltage-gated calcium channel activity (GO:1901385)3.02989707
107neuromuscular process controlling posture (GO:0050884)3.02288871
108prepulse inhibition (GO:0060134)3.01865248
109positive regulation of synapse assembly (GO:0051965)3.01099717
110regulation of female receptivity (GO:0045924)3.00522322
111regulation of synaptic transmission (GO:0050804)3.00036774
112adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.99484821
113synaptic vesicle transport (GO:0048489)2.98615828
114establishment of synaptic vesicle localization (GO:0097480)2.98615828
115mitochondrion transport along microtubule (GO:0047497)2.97986415
116establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.97986415
117negative regulation of amino acid transport (GO:0051956)2.97483290
118membrane depolarization during action potential (GO:0086010)2.96854828
119positive regulation of synaptic transmission (GO:0050806)2.96782526
120serotonin metabolic process (GO:0042428)2.96665651
121G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.96542580
122regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.95404978
123striatum development (GO:0021756)2.93785573
124dendritic spine organization (GO:0097061)2.88155783
125dendrite morphogenesis (GO:0048813)2.86400088
126cerebellar granule cell differentiation (GO:0021707)2.80430816
127neuromuscular process controlling balance (GO:0050885)2.79938619

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.39907637
2GBX2_23144817_ChIP-Seq_PC3_Human3.79979362
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.28663366
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.25056281
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.17834799
6REST_21632747_ChIP-Seq_MESCs_Mouse2.78269956
7SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.76560465
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.75281570
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.75281570
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.72600327
11EZH2_27304074_Chip-Seq_ESCs_Mouse2.67608975
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.63935305
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.59037778
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.52549987
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.51335167
16RARB_27405468_Chip-Seq_BRAIN_Mouse2.47408776
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.41865080
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.31501086
19TAF15_26573619_Chip-Seq_HEK293_Human2.28562555
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.27749229
21REST_18959480_ChIP-ChIP_MESCs_Mouse2.25865515
22IKZF1_21737484_ChIP-ChIP_HCT116_Human2.23671681
23DROSHA_22980978_ChIP-Seq_HELA_Human2.21714629
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.16716646
25NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.12881323
26CTBP2_25329375_ChIP-Seq_LNCAP_Human2.10532067
27CTBP1_25329375_ChIP-Seq_LNCAP_Human2.04683607
28GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.02423002
29CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.00740735
30AR_21572438_ChIP-Seq_LNCaP_Human1.83259770
31ZFP57_27257070_Chip-Seq_ESCs_Mouse1.78564300
32ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.75919042
33SMAD4_21799915_ChIP-Seq_A2780_Human1.73872202
34MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.65889613
35BMI1_23680149_ChIP-Seq_NPCS_Mouse1.64428609
36P300_19829295_ChIP-Seq_ESCs_Human1.60930662
37SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.59223317
38ZNF274_21170338_ChIP-Seq_K562_Hela1.57557531
39TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.55721530
40GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.54285509
41CBX2_27304074_Chip-Seq_ESCs_Mouse1.54219753
42ERG_21242973_ChIP-ChIP_JURKAT_Human1.52901430
43PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.49358684
44PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.49064877
45SMAD3_21741376_ChIP-Seq_EPCs_Human1.41351932
46TOP2B_26459242_ChIP-Seq_MCF-7_Human1.39051741
47FUS_26573619_Chip-Seq_HEK293_Human1.37473559
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.35833021
49IGF1R_20145208_ChIP-Seq_DFB_Human1.35352356
50EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.34428692
51POU3F2_20337985_ChIP-ChIP_501MEL_Human1.32584966
52RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.31641041
53VDR_22108803_ChIP-Seq_LS180_Human1.31160886
54AR_25329375_ChIP-Seq_VCAP_Human1.31008463
55ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.30340993
56NR3C1_23031785_ChIP-Seq_PC12_Mouse1.29286515
57SOX2_21211035_ChIP-Seq_LN229_Gbm1.28934101
58RING1B_27294783_Chip-Seq_ESCs_Mouse1.27578333
59RNF2_27304074_Chip-Seq_NSC_Mouse1.27149703
60PIAS1_25552417_ChIP-Seq_VCAP_Human1.25201972
61OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24861278
62GATA1_26923725_Chip-Seq_HPCs_Mouse1.23958158
63RBPJ_22232070_ChIP-Seq_NCS_Mouse1.21808115
64SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.21429681
65TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.20208790
66UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.17553265
67HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.16182612
68RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.15778328
69* STAT3_23295773_ChIP-Seq_U87_Human1.12597288
70AR_19668381_ChIP-Seq_PC3_Human1.10464806
71CDX2_19796622_ChIP-Seq_MESCs_Mouse1.09435931
72MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.09304738
73SMAD_19615063_ChIP-ChIP_OVARY_Human1.08958647
74P53_22127205_ChIP-Seq_FIBROBLAST_Human1.08658093
75KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.08257328
76ER_23166858_ChIP-Seq_MCF-7_Human1.07935559
77FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.07341510
78TCF4_23295773_ChIP-Seq_U87_Human1.06118455
79MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.06089657
80JUN_21703547_ChIP-Seq_K562_Human1.05570089
81OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.04787928
82DNAJC2_21179169_ChIP-ChIP_NT2_Human1.03493291
83PRDM14_20953172_ChIP-Seq_ESCs_Human1.02736101
84RUNX2_22187159_ChIP-Seq_PCA_Human1.02671115
85RING1B_27294783_Chip-Seq_NPCs_Mouse1.02076527
86CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.00989490
87LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99702337
88TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.99098064
89TP53_20018659_ChIP-ChIP_R1E_Mouse0.99079508
90ARNT_22903824_ChIP-Seq_MCF-7_Human0.97956896
91CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97730244
92YAP1_20516196_ChIP-Seq_MESCs_Mouse0.95056970
93TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93623512
94POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.93623512
95PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.93548868
96SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.93043942
97WT1_25993318_ChIP-Seq_PODOCYTE_Human0.92930508
98BCAT_22108803_ChIP-Seq_LS180_Human0.92702398
99NR3C1_21868756_ChIP-Seq_MCF10A_Human0.92625212
100AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.92516244
101NANOG_18555785_Chip-Seq_ESCs_Mouse0.90570244
102STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.90426600
103AHR_22903824_ChIP-Seq_MCF-7_Human0.90064330
104TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.89920985
105SMAD3_21741376_ChIP-Seq_ESCs_Human0.89174020
106SOX9_26525672_Chip-Seq_HEART_Mouse0.88758128
107CTCF_27219007_Chip-Seq_Bcells_Human0.87477079
108TP53_16413492_ChIP-PET_HCT116_Human0.87427596
109TP53_18474530_ChIP-ChIP_U2OS_Human0.85300932
110TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84879499
111ZNF217_24962896_ChIP-Seq_MCF-7_Human0.82710893
112KDM2B_26808549_Chip-Seq_REH_Human0.82351397
113RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.81553879
114MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.81403843
115CBP_20019798_ChIP-Seq_JUKART_Human0.80894820

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.92856473
2MP0003880_abnormal_central_pattern5.38255237
3MP0003635_abnormal_synaptic_transmissio4.14811761
4MP0009745_abnormal_behavioral_response3.55549931
5MP0002063_abnormal_learning/memory/cond3.33241367
6MP0009046_muscle_twitch3.29545082
7MP0002064_seizures3.26429343
8MP0004270_analgesia3.24614880
9MP0001968_abnormal_touch/_nociception3.04097401
10MP0002572_abnormal_emotion/affect_behav2.93760272
11MP0002272_abnormal_nervous_system2.69094609
12MP0001501_abnormal_sleep_pattern2.64624024
13MP0002822_catalepsy2.63915631
14MP0005423_abnormal_somatic_nervous2.56443342
15MP0001486_abnormal_startle_reflex2.52230958
16MP0002736_abnormal_nociception_after2.50565983
17MP0002734_abnormal_mechanical_nocicepti2.45682964
18MP0001440_abnormal_grooming_behavior2.37671096
19MP0002735_abnormal_chemical_nociception2.12930102
20MP0006276_abnormal_autonomic_nervous2.08639520
21MP0002067_abnormal_sensory_capabilities2.06128750
22MP0002733_abnormal_thermal_nociception1.94363309
23MP0001529_abnormal_vocalization1.89343405
24MP0001970_abnormal_pain_threshold1.87065795
25MP0002184_abnormal_innervation1.82797490
26MP0002557_abnormal_social/conspecific_i1.78393892
27MP0005386_behavior/neurological_phenoty1.78076359
28MP0004924_abnormal_behavior1.78076359
29MP0001984_abnormal_olfaction1.77939675
30MP0001905_abnormal_dopamine_level1.73034225
31MP0003329_amyloid_beta_deposits1.70684979
32MP0008569_lethality_at_weaning1.69060996
33MP0003122_maternal_imprinting1.67613858
34MP0000778_abnormal_nervous_system1.66979394
35MP0002837_dystrophic_cardiac_calcinosis1.61468906
36MP0004811_abnormal_neuron_physiology1.55227900
37MP0005646_abnormal_pituitary_gland1.53725048
38MP0008877_abnormal_DNA_methylation1.52402027
39MP0002909_abnormal_adrenal_gland1.51633377
40MP0009780_abnormal_chondrocyte_physiolo1.51272047
41MP0004142_abnormal_muscle_tone1.48493892
42MP0001188_hyperpigmentation1.46694017
43MP0003879_abnormal_hair_cell1.45989557
44MP0003787_abnormal_imprinting1.42936513
45MP0002066_abnormal_motor_capabilities/c1.42191402
46MP0004145_abnormal_muscle_electrophysio1.40379003
47MP0001502_abnormal_circadian_rhythm1.39800825
48MP0000955_abnormal_spinal_cord1.37630107
49MP0004133_heterotaxia1.37042173
50MP0000751_myopathy1.36093732
51MP0002882_abnormal_neuron_morphology1.35412413
52MP0000569_abnormal_digit_pigmentation1.31015644
53MP0005645_abnormal_hypothalamus_physiol1.26283741
54MP0005551_abnormal_eye_electrophysiolog1.22436572
55MP0009379_abnormal_foot_pigmentation1.18765057
56MP0004858_abnormal_nervous_system1.13825745
57MP0003283_abnormal_digestive_organ1.13096489
58MP0003633_abnormal_nervous_system1.11277561
59MP0002653_abnormal_ependyma_morphology1.10503864
60MP0008872_abnormal_physiological_respon1.07864215
61MP0004885_abnormal_endolymph1.06818453
62MP0002152_abnormal_brain_morphology1.04497254
63MP0003890_abnormal_embryonic-extraembry1.00544538
64MP0003631_nervous_system_phenotype0.99668564
65MP0000013_abnormal_adipose_tissue0.99499335
66MP0004742_abnormal_vestibular_system0.99079338
67MP0003136_yellow_coat_color0.97225521
68MP0002229_neurodegeneration0.96665772
69MP0004215_abnormal_myocardial_fiber0.95298369
70MP0002876_abnormal_thyroid_physiology0.94339985
71MP0004085_abnormal_heartbeat0.94323605
72MP0002069_abnormal_eating/drinking_beha0.94031538
73MP0005535_abnormal_body_temperature0.93564587
74MP0008789_abnormal_olfactory_epithelium0.89834394
75MP0003861_abnormal_nervous_system0.89782190
76MP0010386_abnormal_urinary_bladder0.89124794
77MP0008874_decreased_physiological_sensi0.89101896
78MP0003011_delayed_dark_adaptation0.88220730
79MP0003938_abnormal_ear_development0.87280026
80MP0005499_abnormal_olfactory_system0.86775577
81MP0005394_taste/olfaction_phenotype0.86775577
82MP0004484_altered_response_of0.85527425
83MP0001963_abnormal_hearing_physiology0.84646248
84MP0001986_abnormal_taste_sensitivity0.84308499
85MP0002090_abnormal_vision0.82585800
86MP0005253_abnormal_eye_physiology0.82348933
87MP0000566_synostosis0.81374664
88MP0000631_abnormal_neuroendocrine_gland0.80977340
89MP0002752_abnormal_somatic_nervous0.80894298
90MP0004147_increased_porphyrin_level0.77490418
91MP0001664_abnormal_digestion0.77185881
92MP0004233_abnormal_muscle_weight0.76552661
93MP0005409_darkened_coat_color0.75657582
94MP0003632_abnormal_nervous_system0.71395866
95MP0002638_abnormal_pupillary_reflex0.69546431
96MP0001177_atelectasis0.69388485
97MP0005195_abnormal_posterior_eye0.69382755
98MP0000604_amyloidosis0.68969531
99MP0006072_abnormal_retinal_apoptosis0.68904321
100MP0002102_abnormal_ear_morphology0.68586373
101MP0003634_abnormal_glial_cell0.66971131
102MP0003137_abnormal_impulse_conducting0.65547037
103MP0006292_abnormal_olfactory_placode0.62873944
104MP0002082_postnatal_lethality0.62066414
105MP0010770_preweaning_lethality0.62066414
106MP0003646_muscle_fatigue0.59469540
107MP0002928_abnormal_bile_duct0.59356513
108MP0010769_abnormal_survival0.59324639
109MP0001293_anophthalmia0.59220414
110MP0002332_abnormal_exercise_endurance0.56798988
111MP0000026_abnormal_inner_ear0.56748058
112MP0001943_abnormal_respiration0.56616695
113MP0003121_genomic_imprinting0.56547718
114MP0003123_paternal_imprinting0.56447932
115MP0000747_muscle_weakness0.55973893
116MP0003690_abnormal_glial_cell0.55468848
117MP0005620_abnormal_muscle_contractility0.53871080
118MP0001485_abnormal_pinna_reflex0.53174888
119MP0000920_abnormal_myelination0.53040428
120MP0005623_abnormal_meninges_morphology0.52547580
121MP0003075_altered_response_to0.52006300
122MP0004036_abnormal_muscle_relaxation0.51947260
123MP0005187_abnormal_penis_morphology0.49772331

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.19075118
2Myokymia (HP:0002411)6.00838465
3Focal seizures (HP:0007359)5.88154303
4Visual hallucinations (HP:0002367)5.88024402
5Atonic seizures (HP:0010819)5.38611256
6Epileptic encephalopathy (HP:0200134)5.13005886
7Febrile seizures (HP:0002373)4.80700390
8Absence seizures (HP:0002121)4.75659386
9Dialeptic seizures (HP:0011146)4.38383248
10Progressive cerebellar ataxia (HP:0002073)4.28890602
11Hyperventilation (HP:0002883)4.04912237
12Generalized tonic-clonic seizures (HP:0002069)4.01140127
13Broad-based gait (HP:0002136)3.74768949
14Gaze-evoked nystagmus (HP:0000640)3.19946454
15Anxiety (HP:0000739)3.17172141
16Poor eye contact (HP:0000817)3.16648649
17Amblyopia (HP:0000646)3.15531655
18Action tremor (HP:0002345)3.07481304
19Progressive inability to walk (HP:0002505)3.04316335
20Dysdiadochokinesis (HP:0002075)3.00744021
21Limb dystonia (HP:0002451)2.98955307
22Impaired vibration sensation in the lower limbs (HP:0002166)2.96675226
23Supranuclear gaze palsy (HP:0000605)2.96108736
24Truncal ataxia (HP:0002078)2.94468362
25Depression (HP:0000716)2.89675312
26Dysmetria (HP:0001310)2.86072083
27Abnormal social behavior (HP:0012433)2.85823635
28Impaired social interactions (HP:0000735)2.85823635
29Cerebral inclusion bodies (HP:0100314)2.84983920
30Abnormal eating behavior (HP:0100738)2.80400807
31Excessive salivation (HP:0003781)2.74842603
32Drooling (HP:0002307)2.74842603
33Epileptiform EEG discharges (HP:0011182)2.59288198
34Sleep apnea (HP:0010535)2.58169459
35Ankle clonus (HP:0011448)2.56761656
36Hemiparesis (HP:0001269)2.56180184
37Acute necrotizing encephalopathy (HP:0006965)2.54809033
38Inability to walk (HP:0002540)2.54344637
39Mutism (HP:0002300)2.53220955
40Abnormality of binocular vision (HP:0011514)2.46651161
41Diplopia (HP:0000651)2.46651161
42Polyphagia (HP:0002591)2.45887745
43Molar tooth sign on MRI (HP:0002419)2.45334113
44Abnormality of midbrain morphology (HP:0002418)2.45334113
45Fetal akinesia sequence (HP:0001989)2.44047572
46Urinary bladder sphincter dysfunction (HP:0002839)2.43948317
47Abnormality of the labia minora (HP:0012880)2.42853300
48EEG with generalized epileptiform discharges (HP:0011198)2.41130130
49Pheochromocytoma (HP:0002666)2.38486983
50Absent speech (HP:0001344)2.38089357
51Abnormal mitochondria in muscle tissue (HP:0008316)2.37809837
52Progressive macrocephaly (HP:0004481)2.37491071
53Delusions (HP:0000746)2.34559971
54Impaired smooth pursuit (HP:0007772)2.33828816
55Status epilepticus (HP:0002133)2.32759139
56Neurofibrillary tangles (HP:0002185)2.32264902
57Degeneration of the lateral corticospinal tracts (HP:0002314)2.31491337
58Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.31491337
59Generalized myoclonic seizures (HP:0002123)2.29315012
60Postural instability (HP:0002172)2.29296005
61Spastic tetraplegia (HP:0002510)2.28502490
62Bradykinesia (HP:0002067)2.28345366
63Abnormality of the lower motor neuron (HP:0002366)2.27672323
64Cerebral hypomyelination (HP:0006808)2.27548429
65Genetic anticipation (HP:0003743)2.27172832
66Scanning speech (HP:0002168)2.26286959
67Amyotrophic lateral sclerosis (HP:0007354)2.22162434
68Hypsarrhythmia (HP:0002521)2.22155989
69Gait imbalance (HP:0002141)2.17335794
70Neuroendocrine neoplasm (HP:0100634)2.15743657
71Morphological abnormality of the pyramidal tract (HP:0002062)2.15403136
72Stereotypic behavior (HP:0000733)2.11073103
73Lissencephaly (HP:0001339)2.10308220
74Urinary urgency (HP:0000012)2.09312321
75Pancreatic fibrosis (HP:0100732)2.09175317
76Dysmetric saccades (HP:0000641)2.07575182
77Abnormality of ocular smooth pursuit (HP:0000617)2.06084611
78Focal dystonia (HP:0004373)2.05923243
79Hyperthyroidism (HP:0000836)2.05803430
80Vaginal atresia (HP:0000148)2.05416976
81Genital tract atresia (HP:0001827)2.04617669
82Spastic gait (HP:0002064)2.04064913
83Nephrogenic diabetes insipidus (HP:0009806)2.03831124
84Torticollis (HP:0000473)2.03275405
85Insidious onset (HP:0003587)2.02671762
86Termporal pattern (HP:0011008)2.02671762
87Psychosis (HP:0000709)2.01178293
88Mitochondrial inheritance (HP:0001427)1.99718549
89Protruding tongue (HP:0010808)1.95437518
90Incomplete penetrance (HP:0003829)1.95435769
91Akinesia (HP:0002304)1.94023219
92Agitation (HP:0000713)1.93778158
93Dynein arm defect of respiratory motile cilia (HP:0012255)1.93462031
94Absent/shortened dynein arms (HP:0200106)1.93462031
95Impaired vibratory sensation (HP:0002495)1.93049068
96Poor suck (HP:0002033)1.92305488
97Spastic tetraparesis (HP:0001285)1.92209629
98Pachygyria (HP:0001302)1.92067357
99Nephronophthisis (HP:0000090)1.91138698
100Aplasia/Hypoplasia of the brainstem (HP:0007362)1.90140364
101Hypoplasia of the brainstem (HP:0002365)1.90140364
102True hermaphroditism (HP:0010459)1.87825875
103Esotropia (HP:0000565)1.86830424
104Abnormality of the corticospinal tract (HP:0002492)1.86765721
105Gait ataxia (HP:0002066)1.86064788
106Papilledema (HP:0001085)1.85026017
107Congenital primary aphakia (HP:0007707)1.84744002
108Abnormal ciliary motility (HP:0012262)1.84326091
109Retinal dysplasia (HP:0007973)1.84119380
110Blue irides (HP:0000635)1.82510458
111Hemiplegia (HP:0002301)1.82186464
112Specific learning disability (HP:0001328)1.81134418
113Abnormality of salivation (HP:0100755)1.80990181
114Failure to thrive in infancy (HP:0001531)1.80938765
115Acute encephalopathy (HP:0006846)1.80900837
116Optic nerve hypoplasia (HP:0000609)1.80277966
117Intention tremor (HP:0002080)1.80005193
118Optic disc pallor (HP:0000543)1.79819252
119Rapidly progressive (HP:0003678)1.79099517
120Medial flaring of the eyebrow (HP:0010747)1.78813553
121Lower limb muscle weakness (HP:0007340)1.77827012
122Ventricular fibrillation (HP:0001663)1.76929204
123Craniofacial dystonia (HP:0012179)1.76186095
124Ulnar claw (HP:0001178)1.70908640
125Hypothermia (HP:0002045)1.70815766
126Oligodactyly (hands) (HP:0001180)1.69692802
127Pancreatic cysts (HP:0001737)1.68568629
128Peripheral hypomyelination (HP:0007182)1.66846019
129Type II lissencephaly (HP:0007260)1.65393956
130Hypoplasia of the corpus callosum (HP:0002079)1.65168786
131Septo-optic dysplasia (HP:0100842)1.64274467
132Prolonged QT interval (HP:0001657)1.62034931

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.43824806
2EPHA44.36464741
3MAP3K93.38667488
4MAP3K43.35595105
5MAP3K123.10527335
6MAP2K72.93308827
7CASK2.75602744
8MINK12.54579941
9PNCK2.36817643
10MARK12.36058022
11RIPK42.31002175
12MAP2K42.23592192
13DAPK22.11308523
14PLK22.00095632
15ARAF1.97538999
16DYRK21.93917862
17NTRK21.88061457
18GRK51.85461703
19PAK61.80122598
20DAPK11.71889040
21KSR21.70485667
22TNIK1.68970538
23NME11.63481897
24CDK191.59473012
25KSR11.50290941
26FES1.45503888
27CDK51.42688031
28SIK21.42267075
29MAP3K131.36856548
30PRKCG1.30033245
31MAPK131.29049834
32NTRK11.28494065
33CAMK2A1.23682851
34TRIM281.22048194
35CAMKK11.19147303
36PRPF4B1.18710970
37PTK2B1.15446855
38PRKD31.11397004
39BMPR21.06147794
40UHMK11.05659519
41WNK41.04701459
42CAMK2B0.99915049
43FGR0.98838687
44CAMKK20.95482171
45STK380.93312215
46OXSR10.91056456
47CDK180.89612632
48RAF10.89025512
49CAMK10.88341091
50CDK140.87361489
51PHKG20.86967912
52PHKG10.86967912
53CDK150.85999405
54DYRK1A0.84792879
55MAP4K20.82473530
56CDK11A0.75496721
57TYRO30.74894524
58PKN10.73660166
59LATS20.70952073
60PAK30.69519006
61EPHB20.67298099
62STK110.67277914
63SGK2230.66196750
64SGK4940.66196750
65MAP3K20.66004532
66CSNK1G20.63566789
67PRKCE0.63500920
68CAMK2D0.63455061
69SGK10.62028970
70MAP3K60.61640713
71SIK30.61321434
72LIMK10.61216421
73PINK10.60341387
74CSNK1G30.60102878
75TNK20.59967226
76ALK0.58735966
77CAMK2G0.58234331
78STK390.57311493
79MUSK0.56553835
80MAPK150.55866837
81MARK20.55836621
82FER0.55790078
83GRK60.55605544
84BRAF0.55518775
85CSNK1E0.53959808
86CCNB10.52925962
87SGK30.52841549
88FRK0.51930755
89CAMK40.50907940
90SGK20.49766251
91CSNK1G10.49515421
92RET0.49403794
93DYRK30.48955398
94PRKCH0.48796267
95BCR0.47977076
96GRK70.47597161
97PRKG10.47368304
98FGFR20.47051848
99WNK30.46436433
100MAPK120.45961601
101ADRBK20.45878110
102CAMK1G0.45572778
103DAPK30.44881762
104ROCK20.44717550
105CSNK1A10.44707719
106MOS0.44529875
107AKT30.44471480
108PRKCZ0.43071220
109CSNK1A1L0.42967639
110GRK10.42660926
111MAP3K110.42355721
112PDK10.41569263
113MAP3K10.40885574
114RPS6KA30.40739912
115ADRBK10.40554655
116PDPK10.39941940
117ERBB30.39489914
118FYN0.38784236
119MAP2K10.37896574
120PRKACA0.36993327
121CDK30.36144493
122BMPR1B0.36050684
123DYRK1B0.34894224
124MKNK20.34344994
125RPS6KA20.34041128
126MAPK100.33592121
127PRKACB0.33553189
128MAP3K70.33038138
129CSNK1D0.32523104
130PRKCA0.32281818
131MAPKAPK50.31110526
132PRKCB0.30842092
133PRKDC0.28443103

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.33400594
2Synaptic vesicle cycle_Homo sapiens_hsa047213.50577172
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.95254913
4GABAergic synapse_Homo sapiens_hsa047272.88920145
5Circadian entrainment_Homo sapiens_hsa047132.67292030
6Long-term potentiation_Homo sapiens_hsa047202.64266235
7Morphine addiction_Homo sapiens_hsa050322.63914735
8Olfactory transduction_Homo sapiens_hsa047402.58495316
9Amphetamine addiction_Homo sapiens_hsa050312.55442710
10Glutamatergic synapse_Homo sapiens_hsa047242.54921951
11Collecting duct acid secretion_Homo sapiens_hsa049662.30426459
12Dopaminergic synapse_Homo sapiens_hsa047282.20874733
13Salivary secretion_Homo sapiens_hsa049702.14034917
14Taste transduction_Homo sapiens_hsa047421.98804229
15Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.98289467
16Oxidative phosphorylation_Homo sapiens_hsa001901.92246951
17Serotonergic synapse_Homo sapiens_hsa047261.89466711
18Insulin secretion_Homo sapiens_hsa049111.84538273
19Renin secretion_Homo sapiens_hsa049241.80084356
20Long-term depression_Homo sapiens_hsa047301.78947824
21Gastric acid secretion_Homo sapiens_hsa049711.78714767
22Cholinergic synapse_Homo sapiens_hsa047251.78567322
23Cardiac muscle contraction_Homo sapiens_hsa042601.75166610
24Calcium signaling pathway_Homo sapiens_hsa040201.70992847
25Oxytocin signaling pathway_Homo sapiens_hsa049211.69861138
26Cocaine addiction_Homo sapiens_hsa050301.69023739
27Aldosterone synthesis and secretion_Homo sapiens_hsa049251.65668797
28Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.58722624
29Parkinsons disease_Homo sapiens_hsa050121.51884677
30Alzheimers disease_Homo sapiens_hsa050101.51829083
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.39644291
32GnRH signaling pathway_Homo sapiens_hsa049121.35492777
33Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.34830961
34Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.33616573
35Vibrio cholerae infection_Homo sapiens_hsa051101.32756314
36Gap junction_Homo sapiens_hsa045401.27592694
37Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.22531524
38Phototransduction_Homo sapiens_hsa047441.17073412
39cAMP signaling pathway_Homo sapiens_hsa040241.13822442
40Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.06572372
41Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.02255525
42Huntingtons disease_Homo sapiens_hsa050161.02128419
43Estrogen signaling pathway_Homo sapiens_hsa049150.98720532
44cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98382383
45Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.96836278
46Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.96342147
47Axon guidance_Homo sapiens_hsa043600.96105009
48Melanogenesis_Homo sapiens_hsa049160.95319404
49Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.94554121
50Phosphatidylinositol signaling system_Homo sapiens_hsa040700.93376000
51Vascular smooth muscle contraction_Homo sapiens_hsa042700.90870550
52Protein export_Homo sapiens_hsa030600.90272628
53Type II diabetes mellitus_Homo sapiens_hsa049300.85527940
54Glioma_Homo sapiens_hsa052140.82873082
55Dilated cardiomyopathy_Homo sapiens_hsa054140.78867171
56ErbB signaling pathway_Homo sapiens_hsa040120.78547512
57Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.75441403
58Oocyte meiosis_Homo sapiens_hsa041140.72939675
59Pancreatic secretion_Homo sapiens_hsa049720.72513060
60Hedgehog signaling pathway_Homo sapiens_hsa043400.71976718
61Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.67824586
62Type I diabetes mellitus_Homo sapiens_hsa049400.63659104
63Thyroid hormone synthesis_Homo sapiens_hsa049180.63412535
64MAPK signaling pathway_Homo sapiens_hsa040100.58862738
65Phospholipase D signaling pathway_Homo sapiens_hsa040720.58757203
66Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.57626618
67Glucagon signaling pathway_Homo sapiens_hsa049220.57331169
68Vitamin B6 metabolism_Homo sapiens_hsa007500.57081093
69Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.54846548
70Maturity onset diabetes of the young_Homo sapiens_hsa049500.53749859
71Choline metabolism in cancer_Homo sapiens_hsa052310.53130642
72Ether lipid metabolism_Homo sapiens_hsa005650.51847569
73Folate biosynthesis_Homo sapiens_hsa007900.51140606
74Hippo signaling pathway_Homo sapiens_hsa043900.51039276
75Alcoholism_Homo sapiens_hsa050340.50571255
76Dorso-ventral axis formation_Homo sapiens_hsa043200.49726352
77Rheumatoid arthritis_Homo sapiens_hsa053230.49255934
78African trypanosomiasis_Homo sapiens_hsa051430.49239357
79Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.49170281
80Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.48515775
81Basal cell carcinoma_Homo sapiens_hsa052170.47240168
82beta-Alanine metabolism_Homo sapiens_hsa004100.46710337
83Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.46504120
84Ras signaling pathway_Homo sapiens_hsa040140.46108130
85Nitrogen metabolism_Homo sapiens_hsa009100.45505973
86Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.44579222
87Circadian rhythm_Homo sapiens_hsa047100.44143518
88Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.44015344
89Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.43831310
90VEGF signaling pathway_Homo sapiens_hsa043700.43741412
91Histidine metabolism_Homo sapiens_hsa003400.43373120
92Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.42820796
93Rap1 signaling pathway_Homo sapiens_hsa040150.38696180
94Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.38506917
95Inositol phosphate metabolism_Homo sapiens_hsa005620.38153020
96Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.37778885
97Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.35925372
98Tryptophan metabolism_Homo sapiens_hsa003800.34714031
99Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.34519543
100Sphingolipid signaling pathway_Homo sapiens_hsa040710.34461491
101Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.33593973
102Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.32028320
103Neurotrophin signaling pathway_Homo sapiens_hsa047220.30738811
104Wnt signaling pathway_Homo sapiens_hsa043100.30653572
105Carbohydrate digestion and absorption_Homo sapiens_hsa049730.30561966
106Steroid biosynthesis_Homo sapiens_hsa001000.29874630
107Prion diseases_Homo sapiens_hsa050200.29562589
108Regulation of autophagy_Homo sapiens_hsa041400.29410006
109Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.29186998
110Linoleic acid metabolism_Homo sapiens_hsa005910.27343312
111Tight junction_Homo sapiens_hsa045300.26443453
112Butanoate metabolism_Homo sapiens_hsa006500.23398872
113Renal cell carcinoma_Homo sapiens_hsa052110.22781125
114Thyroid hormone signaling pathway_Homo sapiens_hsa049190.22745589
115Bile secretion_Homo sapiens_hsa049760.22240462
116Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.21725472
117Ovarian steroidogenesis_Homo sapiens_hsa049130.21056801
118Insulin signaling pathway_Homo sapiens_hsa049100.20809442
119SNARE interactions in vesicular transport_Homo sapiens_hsa041300.20033569
120Endocytosis_Homo sapiens_hsa041440.19805688
121Phagosome_Homo sapiens_hsa041450.19408550

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