CDK5R1

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: The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer's disease. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1vocalization behavior (GO:0071625)5.90719573
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.79398679
3regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.78277967
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.69431251
5locomotory exploration behavior (GO:0035641)5.34568522
6protein localization to synapse (GO:0035418)5.29154523
7regulation of glutamate receptor signaling pathway (GO:1900449)5.25904650
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.25878048
9synaptic vesicle exocytosis (GO:0016079)5.23884301
10synaptic vesicle maturation (GO:0016188)5.23796523
11dendritic spine morphogenesis (GO:0060997)4.86942563
12* neuron cell-cell adhesion (GO:0007158)4.79083467
13glutamate secretion (GO:0014047)4.74830277
14regulation of synaptic vesicle exocytosis (GO:2000300)4.71128929
15* ionotropic glutamate receptor signaling pathway (GO:0035235)4.70134268
16exploration behavior (GO:0035640)4.64093363
17regulation of long-term neuronal synaptic plasticity (GO:0048169)4.59766862
18* neuron recognition (GO:0008038)4.42021968
19regulation of neuronal synaptic plasticity (GO:0048168)4.38105163
20* glutamate receptor signaling pathway (GO:0007215)4.37912433
21regulation of synapse structural plasticity (GO:0051823)4.34001224
22regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.33364924
23synaptic transmission, glutamatergic (GO:0035249)4.27675493
24establishment of mitochondrion localization (GO:0051654)4.26173913
25synaptic vesicle docking involved in exocytosis (GO:0016081)4.26030189
26neuronal action potential propagation (GO:0019227)4.24715875
27regulation of synaptic vesicle transport (GO:1902803)4.20719547
28neurotransmitter secretion (GO:0007269)4.20141257
29* layer formation in cerebral cortex (GO:0021819)4.12032079
30neurotransmitter-gated ion channel clustering (GO:0072578)4.11784401
31neuron-neuron synaptic transmission (GO:0007270)4.08811361
32nucleobase catabolic process (GO:0046113)4.07654500
33cerebellar granule cell differentiation (GO:0021707)4.07621531
34sodium ion export (GO:0071436)3.99045433
35regulation of excitatory postsynaptic membrane potential (GO:0060079)3.97372238
36postsynaptic membrane organization (GO:0001941)3.95227465
37positive regulation of synapse maturation (GO:0090129)3.93173201
38gamma-aminobutyric acid transport (GO:0015812)3.86296239
39positive regulation of membrane potential (GO:0045838)3.81363210
40long-term memory (GO:0007616)3.80897361
41regulation of postsynaptic membrane potential (GO:0060078)3.80681195
42proline transport (GO:0015824)3.78172099
43presynaptic membrane assembly (GO:0097105)3.72710057
44regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.70697024
45cell migration in hindbrain (GO:0021535)3.67976184
46transmission of nerve impulse (GO:0019226)3.65856568
47* axonal fasciculation (GO:0007413)3.65452258
48regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.65262703
49dendrite morphogenesis (GO:0048813)3.64903431
50L-amino acid import (GO:0043092)3.64454815
51gamma-aminobutyric acid signaling pathway (GO:0007214)3.60950938
52* regulation of dendritic spine morphogenesis (GO:0061001)3.60609089
53mitochondrion transport along microtubule (GO:0047497)3.54910553
54establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.54910553
55membrane depolarization during action potential (GO:0086010)3.53571020
56regulation of synaptic plasticity (GO:0048167)3.53558011
57central nervous system projection neuron axonogenesis (GO:0021952)3.51340074
58presynaptic membrane organization (GO:0097090)3.49710454
59auditory behavior (GO:0031223)3.49589648
60positive regulation of dendritic spine development (GO:0060999)3.45636287
61positive regulation of dendritic spine morphogenesis (GO:0061003)3.43318348
62positive regulation of synaptic transmission, GABAergic (GO:0032230)3.42684706
63positive regulation of neurotransmitter secretion (GO:0001956)3.42547652
64regulation of synaptic transmission, glutamatergic (GO:0051966)3.42083288
65neurotransmitter transport (GO:0006836)3.41525099
66negative regulation of synaptic transmission, GABAergic (GO:0032229)3.41296174
67synaptic vesicle endocytosis (GO:0048488)3.40507929
68dendritic spine organization (GO:0097061)3.40121425
69positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.38069262
70regulation of vesicle fusion (GO:0031338)3.37058634
71G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.35670518
72membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.34809781
73prepulse inhibition (GO:0060134)3.33187921
74regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.32253003
75neuromuscular process controlling balance (GO:0050885)3.31443224
76synapse assembly (GO:0007416)3.29257259
77regulation of neurotransmitter secretion (GO:0046928)3.28036623
78long-term synaptic potentiation (GO:0060291)3.27975966
79startle response (GO:0001964)3.26488579
80behavioral defense response (GO:0002209)3.26231397
81behavioral fear response (GO:0001662)3.26231397
82activation of protein kinase A activity (GO:0034199)3.25302572
83neuromuscular synaptic transmission (GO:0007274)3.24406400
84* regulation of dendritic spine development (GO:0060998)3.23824553
85pyrimidine nucleobase catabolic process (GO:0006208)3.23486104
86response to histamine (GO:0034776)3.23277698
87response to auditory stimulus (GO:0010996)3.22071978
88learning (GO:0007612)3.21396806
89amino acid import (GO:0043090)3.20050099
90membrane depolarization (GO:0051899)3.19478823
91positive regulation of neurotransmitter transport (GO:0051590)3.18001708
92intraspecies interaction between organisms (GO:0051703)3.17879558
93social behavior (GO:0035176)3.17879558
94regulation of neurotransmitter levels (GO:0001505)3.17586031
95adult walking behavior (GO:0007628)3.15188246
96regulation of voltage-gated calcium channel activity (GO:1901385)3.14314060
97positive regulation of synapse assembly (GO:0051965)3.14060133
98mechanosensory behavior (GO:0007638)3.11795228
99cerebellar Purkinje cell differentiation (GO:0021702)3.11230398
100negative regulation of dendrite development (GO:2000171)3.10538711
101regulation of synapse maturation (GO:0090128)3.10096067
102fear response (GO:0042596)3.08828288
103cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.08533071
104cellular potassium ion homeostasis (GO:0030007)3.07110086
105negative regulation of dendrite morphogenesis (GO:0050774)3.06812543
106synaptic transmission (GO:0007268)3.05070447
107negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.04081097
108neuronal ion channel clustering (GO:0045161)3.04016865
109membrane hyperpolarization (GO:0060081)3.02719994
110neuromuscular process (GO:0050905)3.01419563
111innervation (GO:0060384)3.01380606
112synapse organization (GO:0050808)3.01172465
113regulation of neurotransmitter transport (GO:0051588)3.00208795
114potassium ion import (GO:0010107)3.00201258
115potassium ion homeostasis (GO:0055075)2.99832065
116neurofilament cytoskeleton organization (GO:0060052)2.99065371
117behavioral response to cocaine (GO:0048148)2.97737797
118mating behavior (GO:0007617)2.97324783
119dopamine receptor signaling pathway (GO:0007212)2.95628803
120regulation of glutamate secretion (GO:0014048)2.94753221
121positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.94154647
122regulation of synaptic transmission (GO:0050804)2.92786505
123negative regulation of microtubule polymerization (GO:0031115)2.92499754

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.64756146
2GBX2_23144817_ChIP-Seq_PC3_Human3.60361736
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.26063716
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.17715695
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.04663320
6EZH2_27304074_Chip-Seq_ESCs_Mouse2.76780653
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.76287465
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.76287465
9* REST_21632747_ChIP-Seq_MESCs_Mouse2.74118546
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.72213473
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.66840894
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.55633144
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.52585709
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.47650519
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.46911042
16* RARB_27405468_Chip-Seq_BRAIN_Mouse2.46102463
17SUZ12_27294783_Chip-Seq_ESCs_Mouse2.35943033
18* EZH2_27294783_Chip-Seq_ESCs_Mouse2.34538512
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.32387141
20NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.31748823
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.29804022
22DROSHA_22980978_ChIP-Seq_HELA_Human2.29184501
23* REST_18959480_ChIP-ChIP_MESCs_Mouse2.14588798
24CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.06183945
25AR_21572438_ChIP-Seq_LNCaP_Human1.96151018
26IKZF1_21737484_ChIP-ChIP_HCT116_Human1.95329590
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.94397682
28TAF15_26573619_Chip-Seq_HEK293_Human1.93276425
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.92656409
30* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.91758862
31CTBP1_25329375_ChIP-Seq_LNCAP_Human1.81941780
32RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.81286645
33MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.77424982
34EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.71578125
35ZNF274_21170338_ChIP-Seq_K562_Hela1.62468357
36ZFP57_27257070_Chip-Seq_ESCs_Mouse1.59792061
37SMAD4_21799915_ChIP-Seq_A2780_Human1.56834821
38SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.56696939
39PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.56375402
40CBX2_27304074_Chip-Seq_ESCs_Mouse1.54824922
41ERG_21242973_ChIP-ChIP_JURKAT_Human1.50986356
42PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.48759463
43P300_19829295_ChIP-Seq_ESCs_Human1.43506851
44RING1B_27294783_Chip-Seq_ESCs_Mouse1.42163006
45RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.38590760
46BMI1_23680149_ChIP-Seq_NPCS_Mouse1.37424526
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.35253922
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.34409640
49TOP2B_26459242_ChIP-Seq_MCF-7_Human1.29339761
50SOX2_21211035_ChIP-Seq_LN229_Gbm1.29280965
51IGF1R_20145208_ChIP-Seq_DFB_Human1.29089827
52RNF2_27304074_Chip-Seq_NSC_Mouse1.26691592
53* RING1B_27294783_Chip-Seq_NPCs_Mouse1.25661790
54NR3C1_23031785_ChIP-Seq_PC12_Mouse1.23826420
55OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23727262
56* AR_25329375_ChIP-Seq_VCAP_Human1.21497027
57GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21350991
58RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.20338344
59HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.19967325
60SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17034606
61RBPJ_22232070_ChIP-Seq_NCS_Mouse1.15814861
62AR_19668381_ChIP-Seq_PC3_Human1.15278959
63TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14778637
64P53_22127205_ChIP-Seq_FIBROBLAST_Human1.14684408
65SMAD_19615063_ChIP-ChIP_OVARY_Human1.14082860
66PIAS1_25552417_ChIP-Seq_VCAP_Human1.13568125
67STAT3_23295773_ChIP-Seq_U87_Human1.12648470
68FUS_26573619_Chip-Seq_HEK293_Human1.12451438
69CDX2_19796622_ChIP-Seq_MESCs_Mouse1.11598278
70POU3F2_20337985_ChIP-ChIP_501MEL_Human1.11430176
71OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.11264775
72TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.09324646
73ARNT_22903824_ChIP-Seq_MCF-7_Human1.07254158
74WT1_25993318_ChIP-Seq_PODOCYTE_Human1.06780161
75DNAJC2_21179169_ChIP-ChIP_NT2_Human1.05160501
76* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.04497946
77YAP1_20516196_ChIP-Seq_MESCs_Mouse1.04200851
78GATA1_26923725_Chip-Seq_HPCs_Mouse1.04065519
79ZNF217_24962896_ChIP-Seq_MCF-7_Human1.02807450
80UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.02788181
81TCF4_23295773_ChIP-Seq_U87_Human1.01930389
82MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01636223
83RUNX2_22187159_ChIP-Seq_PCA_Human1.00984873
84LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00761421
85* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.00613019
86AHR_22903824_ChIP-Seq_MCF-7_Human0.99981361
87PRDM14_20953172_ChIP-Seq_ESCs_Human0.99125416
88* TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98732470
89* POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.98732470
90KDM2B_26808549_Chip-Seq_K562_Human0.97930989
91NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97781745
92EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.97414475
93AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.97035710
94ZFP281_18757296_ChIP-ChIP_E14_Mouse0.96620517
95ZFP281_27345836_Chip-Seq_ESCs_Mouse0.94983223
96TP53_20018659_ChIP-ChIP_R1E_Mouse0.94466204
97CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.94204104
98MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.94200266
99VDR_22108803_ChIP-Seq_LS180_Human0.94175196
100SOX9_26525672_Chip-Seq_HEART_Mouse0.93809429
101SMAD3_21741376_ChIP-Seq_ESCs_Human0.93678763
102CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93196276
103JUN_21703547_ChIP-Seq_K562_Human0.92903370
104TP53_18474530_ChIP-ChIP_U2OS_Human0.92267158
105TP53_16413492_ChIP-PET_HCT116_Human0.91726847
106FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.91707940
107BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.91130888
108VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.91058531
109KDM2B_26808549_Chip-Seq_REH_Human0.90489422
110TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.89336179
111* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.88847789
112THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.88815784
113SMAD4_21741376_ChIP-Seq_HESCs_Human0.88514121
114TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88096190
115STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.84866795
116* KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.82564470
117CTCF_27219007_Chip-Seq_Bcells_Human0.80931584

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.37693017
2MP0003880_abnormal_central_pattern5.67625761
3* MP0003635_abnormal_synaptic_transmissio4.18774202
4* MP0002063_abnormal_learning/memory/cond3.46552998
5* MP0009745_abnormal_behavioral_response3.37354761
6* MP0004270_analgesia3.20696399
7MP0005423_abnormal_somatic_nervous3.16598625
8MP0001968_abnormal_touch/_nociception3.02162210
9* MP0002064_seizures3.00254838
10MP0002572_abnormal_emotion/affect_behav2.87257272
11MP0009046_muscle_twitch2.82542404
12MP0001486_abnormal_startle_reflex2.63681579
13* MP0002734_abnormal_mechanical_nocicepti2.50422394
14MP0002822_catalepsy2.48679910
15MP0002272_abnormal_nervous_system2.44646924
16MP0001440_abnormal_grooming_behavior2.30578689
17* MP0000778_abnormal_nervous_system2.30456079
18MP0002736_abnormal_nociception_after2.29759682
19MP0002735_abnormal_chemical_nociception2.24281301
20MP0001501_abnormal_sleep_pattern2.21888809
21MP0006276_abnormal_autonomic_nervous2.15637804
22MP0002184_abnormal_innervation2.06734264
23* MP0002733_abnormal_thermal_nociception1.98667172
24MP0002067_abnormal_sensory_capabilities1.95737491
25* MP0001970_abnormal_pain_threshold1.89418141
26MP0002557_abnormal_social/conspecific_i1.88946681
27MP0003329_amyloid_beta_deposits1.87532414
28MP0009780_abnormal_chondrocyte_physiolo1.87302360
29MP0004811_abnormal_neuron_physiology1.82710456
30MP0005386_behavior/neurological_phenoty1.79911523
31MP0004924_abnormal_behavior1.79911523
32MP0001529_abnormal_vocalization1.66816481
33MP0002909_abnormal_adrenal_gland1.64746005
34MP0008569_lethality_at_weaning1.62285551
35* MP0000955_abnormal_spinal_cord1.59360258
36MP0004858_abnormal_nervous_system1.58982529
37MP0001984_abnormal_olfaction1.57133845
38MP0001188_hyperpigmentation1.46959865
39* MP0002882_abnormal_neuron_morphology1.46893092
40MP0003879_abnormal_hair_cell1.42512953
41* MP0002066_abnormal_motor_capabilities/c1.42357061
42MP0000569_abnormal_digit_pigmentation1.41912660
43MP0004885_abnormal_endolymph1.39583635
44MP0003787_abnormal_imprinting1.35601190
45MP0001905_abnormal_dopamine_level1.33755996
46MP0005646_abnormal_pituitary_gland1.33150193
47MP0003121_genomic_imprinting1.25906481
48* MP0002152_abnormal_brain_morphology1.24097308
49MP0005645_abnormal_hypothalamus_physiol1.24086560
50MP0001502_abnormal_circadian_rhythm1.20929870
51MP0008877_abnormal_DNA_methylation1.18505237
52MP0004142_abnormal_muscle_tone1.13797273
53MP0003633_abnormal_nervous_system1.13349140
54MP0004742_abnormal_vestibular_system1.07464818
55MP0003123_paternal_imprinting1.06817278
56MP0003122_maternal_imprinting1.06707742
57MP0005409_darkened_coat_color1.05424506
58MP0005394_taste/olfaction_phenotype0.99360408
59MP0005499_abnormal_olfactory_system0.99360408
60MP0003631_nervous_system_phenotype0.99155413
61MP0002069_abnormal_eating/drinking_beha0.97305166
62MP0000631_abnormal_neuroendocrine_gland0.95697224
63MP0000751_myopathy0.94806720
64MP0003690_abnormal_glial_cell0.94774109
65MP0010386_abnormal_urinary_bladder0.93590305
66MP0002837_dystrophic_cardiac_calcinosis0.89619989
67MP0008872_abnormal_physiological_respon0.87094081
68MP0001177_atelectasis0.86174167
69MP0004085_abnormal_heartbeat0.85754135
70MP0002752_abnormal_somatic_nervous0.84705432
71MP0004145_abnormal_muscle_electrophysio0.84238359
72MP0002229_neurodegeneration0.83520287
73MP0008874_decreased_physiological_sensi0.83336833
74MP0005551_abnormal_eye_electrophysiolog0.83175952
75MP0001963_abnormal_hearing_physiology0.82394496
76MP0000604_amyloidosis0.81632467
77* MP0003861_abnormal_nervous_system0.79253100
78MP0005535_abnormal_body_temperature0.79092772
79MP0003634_abnormal_glial_cell0.77532243
80MP0004133_heterotaxia0.76365445
81MP0006292_abnormal_olfactory_placode0.74528555
82MP0002638_abnormal_pupillary_reflex0.73247118
83MP0003137_abnormal_impulse_conducting0.72883758
84MP0008961_abnormal_basal_metabolism0.72359836
85MP0005187_abnormal_penis_morphology0.69491752
86MP0002102_abnormal_ear_morphology0.69213092
87MP0003632_abnormal_nervous_system0.68806952
88MP0004510_myositis0.68472197
89MP0001986_abnormal_taste_sensitivity0.66803639
90MP0003938_abnormal_ear_development0.65316796
91MP0005623_abnormal_meninges_morphology0.65068450
92MP0010768_mortality/aging0.64813395
93MP0004484_altered_response_of0.63778416
94MP0001664_abnormal_digestion0.63700801
95MP0001485_abnormal_pinna_reflex0.62943293
96MP0000920_abnormal_myelination0.61767046
97MP0003283_abnormal_digestive_organ0.61064709
98MP0000026_abnormal_inner_ear0.60747320
99MP0001943_abnormal_respiration0.60691423
100MP0000566_synostosis0.60579569
101* MP0002081_perinatal_lethality0.60052112
102MP0002090_abnormal_vision0.59966586
103MP0002751_abnormal_autonomic_nervous0.59528994
104MP0003075_altered_response_to0.58632027
105MP0002234_abnormal_pharynx_morphology0.58448091
106MP0009379_abnormal_foot_pigmentation0.58285665
107MP0004215_abnormal_myocardial_fiber0.57651170
108MP0002876_abnormal_thyroid_physiology0.57132803
109MP0002653_abnormal_ependyma_morphology0.56520340
110MP0001348_abnormal_lacrimal_gland0.55982935
111MP0010769_abnormal_survival0.55874954
112MP0002082_postnatal_lethality0.55702051
113MP0010770_preweaning_lethality0.55702051
114MP0003956_abnormal_body_size0.50794274
115MP0003890_abnormal_embryonic-extraembry0.48822427
116MP0001299_abnormal_eye_distance/0.48806284

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.42031309
2Myokymia (HP:0002411)6.31226730
3Focal seizures (HP:0007359)5.67427340
4Visual hallucinations (HP:0002367)5.22935807
5Epileptic encephalopathy (HP:0200134)4.80421559
6Atonic seizures (HP:0010819)4.37881794
7Febrile seizures (HP:0002373)4.18364685
8Absence seizures (HP:0002121)4.06472106
9Broad-based gait (HP:0002136)4.00171838
10Supranuclear gaze palsy (HP:0000605)3.99260389
11Progressive cerebellar ataxia (HP:0002073)3.94878220
12Dialeptic seizures (HP:0011146)3.72090497
13Hyperventilation (HP:0002883)3.70733748
14Generalized tonic-clonic seizures (HP:0002069)3.70288015
15Poor eye contact (HP:0000817)3.53440380
16Mutism (HP:0002300)3.45130055
17Amblyopia (HP:0000646)3.43706013
18Drooling (HP:0002307)3.38812257
19Excessive salivation (HP:0003781)3.38812257
20Cerebral inclusion bodies (HP:0100314)3.21630098
21Ankle clonus (HP:0011448)3.17679480
22Impaired vibration sensation in the lower limbs (HP:0002166)3.17631631
23Action tremor (HP:0002345)3.15918485
24Abnormal social behavior (HP:0012433)3.12018421
25Impaired social interactions (HP:0000735)3.12018421
26Neurofibrillary tangles (HP:0002185)3.07034045
27Papilledema (HP:0001085)3.05066449
28Limb dystonia (HP:0002451)3.01650688
29Urinary bladder sphincter dysfunction (HP:0002839)3.00664822
30Amyotrophic lateral sclerosis (HP:0007354)3.00363097
31Gaze-evoked nystagmus (HP:0000640)2.93510174
32Depression (HP:0000716)2.91746894
33Hemiparesis (HP:0001269)2.90785144
34Truncal ataxia (HP:0002078)2.89620570
35Anxiety (HP:0000739)2.83865468
36Abnormal eating behavior (HP:0100738)2.83114041
37Progressive inability to walk (HP:0002505)2.82436728
38Dysdiadochokinesis (HP:0002075)2.79887972
39Peripheral hypomyelination (HP:0007182)2.79647427
40Abnormality of the corticospinal tract (HP:0002492)2.77916779
41Urinary urgency (HP:0000012)2.76683845
42Stereotypic behavior (HP:0000733)2.74580708
43Termporal pattern (HP:0011008)2.73654196
44Insidious onset (HP:0003587)2.73654196
45Dysmetria (HP:0001310)2.69065314
46Epileptiform EEG discharges (HP:0011182)2.64837175
47Genetic anticipation (HP:0003743)2.63234351
48Diplopia (HP:0000651)2.62799159
49Abnormality of binocular vision (HP:0011514)2.62799159
50Absent speech (HP:0001344)2.62200292
51Polyphagia (HP:0002591)2.61750498
52Abnormality of the lower motor neuron (HP:0002366)2.57611561
53EEG with generalized epileptiform discharges (HP:0011198)2.55973021
54Fetal akinesia sequence (HP:0001989)2.55261780
55Spastic gait (HP:0002064)2.52467396
56Inappropriate behavior (HP:0000719)2.49881262
57Inability to walk (HP:0002540)2.46855562
58Megalencephaly (HP:0001355)2.44545867
59Hypsarrhythmia (HP:0002521)2.42316868
60Torticollis (HP:0000473)2.41613398
61Impaired smooth pursuit (HP:0007772)2.38049609
62Cerebral hypomyelination (HP:0006808)2.32852960
63Postural instability (HP:0002172)2.32397356
64Morphological abnormality of the pyramidal tract (HP:0002062)2.31831089
65Protruding tongue (HP:0010808)2.30970894
66Focal dystonia (HP:0004373)2.30212907
67Agitation (HP:0000713)2.28450071
68Abnormality of salivation (HP:0100755)2.27759329
69Obstructive sleep apnea (HP:0002870)2.24352706
70Bradykinesia (HP:0002067)2.23091265
71Apathy (HP:0000741)2.19553139
72Lower limb muscle weakness (HP:0007340)2.16350783
73Akinesia (HP:0002304)2.14795665
74Generalized myoclonic seizures (HP:0002123)2.11673490
75Spastic tetraplegia (HP:0002510)2.09860566
76Hypoplasia of the corpus callosum (HP:0002079)2.09758100
77Scanning speech (HP:0002168)2.07562615
78Clonus (HP:0002169)2.05334425
79Hypoplasia of the brainstem (HP:0002365)2.04275483
80Aplasia/Hypoplasia of the brainstem (HP:0007362)2.04275483
81Abnormality of ocular smooth pursuit (HP:0000617)2.02556112
82Status epilepticus (HP:0002133)2.02511330
83Intention tremor (HP:0002080)2.01647680
84Craniofacial dystonia (HP:0012179)2.00602043
85Lower limb asymmetry (HP:0100559)2.00153800
86Intellectual disability, severe (HP:0010864)1.99929998
87Impaired vibratory sensation (HP:0002495)1.97310840
88Ulnar claw (HP:0001178)1.96994047
89Lower limb amyotrophy (HP:0007210)1.94938603
90Lissencephaly (HP:0001339)1.94287960
91Split foot (HP:0001839)1.94219955
92Degeneration of the lateral corticospinal tracts (HP:0002314)1.94091989
93Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.94091989
94Esotropia (HP:0000565)1.93929570
95Abnormality of the labia minora (HP:0012880)1.93467238
96Exotropia (HP:0000577)1.92361874
97Diminished motivation (HP:0000745)1.92053335
98Hyperthyroidism (HP:0000836)1.91953072
99Pointed chin (HP:0000307)1.91145701
100Blue irides (HP:0000635)1.89010172
101Insomnia (HP:0100785)1.88639105
102Sporadic (HP:0003745)1.88321518
103Failure to thrive in infancy (HP:0001531)1.87845121
104Neuronal loss in central nervous system (HP:0002529)1.86810317
105Sleep apnea (HP:0010535)1.84932068
106Gait imbalance (HP:0002141)1.84787115
107Hemiplegia (HP:0002301)1.84654949
108Specific learning disability (HP:0001328)1.84380544
109Autism (HP:0000717)1.84164830
110Delusions (HP:0000746)1.83264134
111Annular pancreas (HP:0001734)1.83170508
112Incomplete penetrance (HP:0003829)1.80936071
113Pachygyria (HP:0001302)1.78802322

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.77154306
2EPHA44.74297159
3NTRK34.04126095
4MAP3K93.78812181
5MAP3K43.04415762
6MINK12.67646999
7MAP2K72.62841224
8DAPK22.53310609
9NTRK22.33315628
10RIPK42.26928589
11CASK2.14082879
12PAK62.12814230
13PNCK2.02846710
14KSR11.96379049
15MAP3K121.92208260
16KSR21.88161804
17MAP2K41.81962142
18MAPK131.79542495
19NTRK11.62792586
20PLK21.58442002
21TNIK1.55707736
22DAPK11.53988191
23* CDK51.53296628
24CAMKK11.47060388
25PINK11.44228757
26PRKD31.41261312
27GRK51.34110104
28UHMK11.23909664
29FES1.20979787
30PRKCG1.18121297
31TYRO31.14244070
32PHKG21.12104470
33PHKG11.12104470
34LATS21.07407013
35PRPF4B1.05490002
36CDK191.02979967
37CAMK2A1.00865592
38ARAF0.98838222
39MAP3K20.93943594
40CDK180.93833406
41DYRK1A0.93676140
42CSNK1G20.92236538
43CDK150.91760396
44BMPR20.91186692
45CDK140.91097896
46STK110.90162560
47TAOK20.89975261
48DYRK20.84744820
49FGR0.83759069
50MAP3K130.82781343
51RAF10.81976859
52CDK11A0.81132883
53CAMK2B0.79184473
54TAOK10.78280816
55RET0.78159464
56MARK20.78053080
57PTK2B0.75707099
58PAK30.75563971
59STK380.75260927
60CAMK10.70318348
61MAP3K60.70235570
62SGK4940.69936773
63SGK2230.69936773
64NME10.69342517
65SGK10.67996302
66CAMKK20.67149522
67ERBB30.65397567
68MAP2K60.64156141
69CCNB10.56078969
70PKN10.55802281
71CAMK1G0.54822942
72MAP4K20.54632891
73TRIM280.53338353
74OXSR10.53144364
75PRKCE0.52354917
76* PRKCZ0.51822099
77SGK20.51277301
78WNK30.51125106
79PRKCH0.49722134
80FYN0.49575699
81MAPK120.48609499
82FGFR20.48292597
83BCR0.46743926
84ALK0.44811090
85CAMK2G0.43945100
86RPS6KA30.42825586
87CSNK1G30.42476629
88RIPK10.42375787
89MAP3K50.42173836
90PDPK10.39793067
91MAPK100.39667906
92PDK10.39413838
93MAP2K10.39138980
94DYRK1B0.38647533
95DAPK30.37928569
96EPHA30.36578636
97CSNK1G10.36362600
98ROCK20.36062414
99RPS6KA20.36017375
100CSNK1D0.35763573
101SGK30.35437558
102GRK70.34418820
103IRAK20.34369466
104CAMK2D0.34214766
105MAPK80.33968384
106CAMK1D0.32177420
107NEK60.32126938
108PRKCB0.31958540
109MAPK40.31502539
110CAMK40.31471446
111DMPK0.31406499
112PRKACA0.30776062
113CSNK1A1L0.30735182
114EPHB20.29947696
115MAP3K10.29533566
116CDC42BPA0.28899955
117GSK3B0.28509858
118PRKG10.27937702
119SIK30.27822392
120CSNK1E0.27231475

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.89844745
2Synaptic vesicle cycle_Homo sapiens_hsa047212.97221665
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.75953266
4Long-term potentiation_Homo sapiens_hsa047202.74922175
5Glutamatergic synapse_Homo sapiens_hsa047242.67692379
6GABAergic synapse_Homo sapiens_hsa047272.66968774
7Circadian entrainment_Homo sapiens_hsa047132.66489397
8Olfactory transduction_Homo sapiens_hsa047402.59677160
9Morphine addiction_Homo sapiens_hsa050322.52348154
10Amphetamine addiction_Homo sapiens_hsa050312.48413310
11Dopaminergic synapse_Homo sapiens_hsa047282.29767712
12Salivary secretion_Homo sapiens_hsa049702.11707830
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.08774602
14Cholinergic synapse_Homo sapiens_hsa047251.96551566
15Taste transduction_Homo sapiens_hsa047421.85372269
16Insulin secretion_Homo sapiens_hsa049111.82989824
17Renin secretion_Homo sapiens_hsa049241.82619169
18Serotonergic synapse_Homo sapiens_hsa047261.82053330
19Long-term depression_Homo sapiens_hsa047301.80981635
20Gastric acid secretion_Homo sapiens_hsa049711.79225402
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.75440537
22Oxytocin signaling pathway_Homo sapiens_hsa049211.73404956
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.65889014
24Calcium signaling pathway_Homo sapiens_hsa040201.56617751
25Axon guidance_Homo sapiens_hsa043601.56544525
26* Cocaine addiction_Homo sapiens_hsa050301.56523386
27Gap junction_Homo sapiens_hsa045401.52599735
28GnRH signaling pathway_Homo sapiens_hsa049121.49427148
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.39183891
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.34410597
31Collecting duct acid secretion_Homo sapiens_hsa049661.27125673
32cAMP signaling pathway_Homo sapiens_hsa040241.22947464
33Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.22938564
34Estrogen signaling pathway_Homo sapiens_hsa049151.20863902
35Glioma_Homo sapiens_hsa052141.18720141
36ErbB signaling pathway_Homo sapiens_hsa040121.13749881
37Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.13731698
38Melanogenesis_Homo sapiens_hsa049161.11224561
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.11122602
40Type II diabetes mellitus_Homo sapiens_hsa049301.08512884
41Cardiac muscle contraction_Homo sapiens_hsa042601.05091182
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.01398284
43Phosphatidylinositol signaling system_Homo sapiens_hsa040701.01078292
44Phototransduction_Homo sapiens_hsa047440.98221291
45Oocyte meiosis_Homo sapiens_hsa041140.92238031
46Vascular smooth muscle contraction_Homo sapiens_hsa042700.87645383
47Phospholipase D signaling pathway_Homo sapiens_hsa040720.83265738
48Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.80726211
49Choline metabolism in cancer_Homo sapiens_hsa052310.80539475
50VEGF signaling pathway_Homo sapiens_hsa043700.80417726
51Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.79777692
52Vibrio cholerae infection_Homo sapiens_hsa051100.78559736
53Dorso-ventral axis formation_Homo sapiens_hsa043200.78210789
54MAPK signaling pathway_Homo sapiens_hsa040100.77193892
55Pancreatic secretion_Homo sapiens_hsa049720.73998246
56Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.73244911
57Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.72089832
58Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.70739250
59Neurotrophin signaling pathway_Homo sapiens_hsa047220.68771029
60Dilated cardiomyopathy_Homo sapiens_hsa054140.68310461
61Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.67448792
62Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.66700747
63Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.64582464
64Thyroid hormone synthesis_Homo sapiens_hsa049180.63873642
65Ras signaling pathway_Homo sapiens_hsa040140.63256817
66Alcoholism_Homo sapiens_hsa050340.63126078
67Sphingolipid signaling pathway_Homo sapiens_hsa040710.62718925
68Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.62379947
69Rap1 signaling pathway_Homo sapiens_hsa040150.60303482
70Renal cell carcinoma_Homo sapiens_hsa052110.58975986
71Endometrial cancer_Homo sapiens_hsa052130.58840490
72Wnt signaling pathway_Homo sapiens_hsa043100.56578483
73Vitamin B6 metabolism_Homo sapiens_hsa007500.56321771
74Alzheimers disease_Homo sapiens_hsa050100.55921231
75Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.54677147
76African trypanosomiasis_Homo sapiens_hsa051430.53595258
77Carbohydrate digestion and absorption_Homo sapiens_hsa049730.53328731
78Type I diabetes mellitus_Homo sapiens_hsa049400.51758473
79mTOR signaling pathway_Homo sapiens_hsa041500.50570366
80Thyroid hormone signaling pathway_Homo sapiens_hsa049190.50036890
81Non-small cell lung cancer_Homo sapiens_hsa052230.49272375
82Glucagon signaling pathway_Homo sapiens_hsa049220.49233558
83Colorectal cancer_Homo sapiens_hsa052100.47703937
84Prion diseases_Homo sapiens_hsa050200.45918496
85Bile secretion_Homo sapiens_hsa049760.45731787
86Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.45654559
87Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.45311199
88Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.44268584
89Endocytosis_Homo sapiens_hsa041440.43541567
90Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.41776381
91Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.39530682
92Longevity regulating pathway - mammal_Homo sapiens_hsa042110.38588429
93Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.38076790
94Chemokine signaling pathway_Homo sapiens_hsa040620.37831969
95Prolactin signaling pathway_Homo sapiens_hsa049170.37315578
96Insulin signaling pathway_Homo sapiens_hsa049100.37275885
97Inositol phosphate metabolism_Homo sapiens_hsa005620.37046911
98Regulation of autophagy_Homo sapiens_hsa041400.34408073
99Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.34374471
100Hippo signaling pathway_Homo sapiens_hsa043900.34147916
101Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.33738348
102AMPK signaling pathway_Homo sapiens_hsa041520.32797662
103Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.32148241
104Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.32035333
105Circadian rhythm_Homo sapiens_hsa047100.31698390
106Oxidative phosphorylation_Homo sapiens_hsa001900.31321813
107Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.29567454
108Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.29398763
109Ovarian steroidogenesis_Homo sapiens_hsa049130.28262078
110Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.27968340
111Butanoate metabolism_Homo sapiens_hsa006500.23825468

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