ARPP21

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.00503697
2regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.62627579
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.51858854
4neurotransmitter-gated ion channel clustering (GO:0072578)5.45355821
5vocalization behavior (GO:0071625)5.38617795
6synaptic transmission, dopaminergic (GO:0001963)5.18001726
7regulation of glutamate receptor signaling pathway (GO:1900449)5.16249529
8synaptic vesicle docking involved in exocytosis (GO:0016081)5.15565337
9locomotory exploration behavior (GO:0035641)5.15071541
10cellular potassium ion homeostasis (GO:0030007)5.00103718
11prepulse inhibition (GO:0060134)4.93655010
12protein localization to synapse (GO:0035418)4.91972234
13behavioral response to cocaine (GO:0048148)4.90545093
14synaptic vesicle exocytosis (GO:0016079)4.82830742
15neuron-neuron synaptic transmission (GO:0007270)4.75251351
16synaptic vesicle maturation (GO:0016188)4.74298632
17regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.73623699
18ionotropic glutamate receptor signaling pathway (GO:0035235)4.69601309
19striatum development (GO:0021756)4.69354151
20regulation of long-term neuronal synaptic plasticity (GO:0048169)4.63945763
21regulation of synapse structural plasticity (GO:0051823)4.63023715
22sodium ion export (GO:0071436)4.58753266
23positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.52374713
24regulation of synaptic vesicle exocytosis (GO:2000300)4.51895826
25positive regulation of synaptic transmission, glutamatergic (GO:0051968)4.50957744
26glutamate secretion (GO:0014047)4.47569017
27neuron cell-cell adhesion (GO:0007158)4.46790339
28adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)4.45345502
29neuronal action potential propagation (GO:0019227)4.42030649
30synaptic transmission, glutamatergic (GO:0035249)4.40026174
31membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.35712749
32regulation of excitatory postsynaptic membrane potential (GO:0060079)4.35203072
33glutamate receptor signaling pathway (GO:0007215)4.33054240
34regulation of neuronal synaptic plasticity (GO:0048168)4.29969064
35positive regulation of neurotransmitter secretion (GO:0001956)4.22780172
36regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.22511256
37auditory behavior (GO:0031223)4.18516212
38L-amino acid import (GO:0043092)4.16718626
39regulation of synaptic transmission, glutamatergic (GO:0051966)4.12894661
40long-term synaptic potentiation (GO:0060291)4.12205729
41presynaptic membrane assembly (GO:0097105)4.10548283
42response to histamine (GO:0034776)4.09784942
43regulation of glutamate secretion (GO:0014048)4.08543434
44regulation of postsynaptic membrane potential (GO:0060078)4.08037752
45response to amphetamine (GO:0001975)4.08017916
46regulation of dopamine uptake involved in synaptic transmission (GO:0051584)4.07117075
47regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)4.07117075
48positive regulation of neurotransmitter transport (GO:0051590)4.05858471
49neurotransmitter secretion (GO:0007269)4.02476898
50regulation of dendritic spine morphogenesis (GO:0061001)4.02450692
51regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.01688299
52positive regulation of membrane potential (GO:0045838)4.01590782
53regulation of synaptic vesicle transport (GO:1902803)4.00974000
54membrane depolarization during action potential (GO:0086010)3.98642335
55positive regulation of dendritic spine morphogenesis (GO:0061003)3.95242459
56sarcoplasmic reticulum calcium ion transport (GO:0070296)3.94566119
57regulation of synapse maturation (GO:0090128)3.92253304
58long-term memory (GO:0007616)3.90181485
59positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.88051968
60negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.86692161
61cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.85899744
62regulation of synaptic plasticity (GO:0048167)3.85890706
63G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.84889839
64presynaptic membrane organization (GO:0097090)3.84871968
65exploration behavior (GO:0035640)3.81118561
66behavioral fear response (GO:0001662)3.80031117
67behavioral defense response (GO:0002209)3.80031117
68positive regulation of synaptic transmission, GABAergic (GO:0032230)3.79651565
69transmission of nerve impulse (GO:0019226)3.76557368
70regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.74579683
71regulation of female receptivity (GO:0045924)3.73594855
72regulation of cell communication by electrical coupling (GO:0010649)3.72486870
73positive regulation of dendritic spine development (GO:0060999)3.71367315
74positive regulation of synapse maturation (GO:0090129)3.69842364
75postsynaptic membrane organization (GO:0001941)3.69147692
76dopamine receptor signaling pathway (GO:0007212)3.64871291
77regulation of neurotransmitter uptake (GO:0051580)3.64036514
78mechanosensory behavior (GO:0007638)3.63696312
79response to auditory stimulus (GO:0010996)3.59556566
80negative regulation of amino acid transport (GO:0051956)3.58958764
81dendritic spine morphogenesis (GO:0060997)3.55875796
82potassium ion import (GO:0010107)3.54808439
83negative regulation of synaptic transmission, GABAergic (GO:0032229)3.51991235
84fear response (GO:0042596)3.51878605
85gamma-aminobutyric acid signaling pathway (GO:0007214)3.51236996
86cAMP catabolic process (GO:0006198)3.51062090
87amino acid import (GO:0043090)3.50927036
88negative regulation of dendrite development (GO:2000171)3.49570773
89G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.48933167
90neuromuscular synaptic transmission (GO:0007274)3.47674763
91positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.47034684
92regulation of voltage-gated calcium channel activity (GO:1901385)3.46473719
93female mating behavior (GO:0060180)3.45887555
94neuromuscular process controlling balance (GO:0050885)3.45631969
95regulation of dendritic spine development (GO:0060998)3.45116197
96visual learning (GO:0008542)3.43243100
97regulation of neurotransmitter levels (GO:0001505)3.43085952
98long term synaptic depression (GO:0060292)3.41453501
99cerebellar Purkinje cell differentiation (GO:0021702)3.39301613
100synaptic vesicle endocytosis (GO:0048488)3.38226603
101gamma-aminobutyric acid transport (GO:0015812)3.37012605
102regulation of neurotransmitter transport (GO:0051588)3.35547784
103membrane depolarization (GO:0051899)3.34930377
104membrane hyperpolarization (GO:0060081)3.34234438
105peristalsis (GO:0030432)3.33850362
106positive regulation of synaptic transmission (GO:0050806)3.33682383
107learning (GO:0007612)3.33622166
108potassium ion homeostasis (GO:0055075)3.33132420
109regulation of neurotransmitter secretion (GO:0046928)3.32640928
110substrate-independent telencephalic tangential interneuron migration (GO:0021843)3.31414273
111substrate-independent telencephalic tangential migration (GO:0021826)3.31414273
112negative regulation of dendrite morphogenesis (GO:0050774)3.29272281
113regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.29260440
114regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.28692260
115cell communication by electrical coupling (GO:0010644)3.27601087
116visual behavior (GO:0007632)3.24945125
117cerebellar granule cell differentiation (GO:0021707)3.24189542
118regulation of protein kinase A signaling (GO:0010738)3.23812877
119neuronal ion channel clustering (GO:0045161)3.21729587
120cellular sodium ion homeostasis (GO:0006883)3.20862201
121mating behavior (GO:0007617)3.19205863
122adenosine receptor signaling pathway (GO:0001973)3.19092280
123detection of calcium ion (GO:0005513)3.18791859
124activation of protein kinase A activity (GO:0034199)3.17747388
125cell communication involved in cardiac conduction (GO:0086065)3.12719533
126proline transport (GO:0015824)3.11956081
127serotonin metabolic process (GO:0042428)3.11683136
128neurotransmitter transport (GO:0006836)3.11340577
129regulation of calcium ion transmembrane transport (GO:1903169)3.11157400
130regulation of calcium ion transmembrane transporter activity (GO:1901019)3.11157400
131regulation of vesicle fusion (GO:0031338)3.09790042
132layer formation in cerebral cortex (GO:0021819)3.09650533
133regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.05138422
134positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.02387036
135regulation of ARF protein signal transduction (GO:0032012)3.01136041
136axon ensheathment in central nervous system (GO:0032291)2.99521322
137central nervous system myelination (GO:0022010)2.99521322
138neuromuscular process (GO:0050905)2.99437533
139central nervous system projection neuron axonogenesis (GO:0021952)2.99422896
140regulation of membrane repolarization (GO:0060306)2.97781997
141response to parathyroid hormone (GO:0071107)2.94331652
142regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.94318431

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.49934234
2GBX2_23144817_ChIP-Seq_PC3_Human4.24918019
3* RARB_27405468_Chip-Seq_BRAIN_Mouse3.36508803
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.24915664
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.18486262
6JARID2_20064375_ChIP-Seq_MESCs_Mouse3.10444599
7SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.72628004
8REST_21632747_ChIP-Seq_MESCs_Mouse2.69209616
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.67593516
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.67593516
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.63160569
12SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.59788684
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.49809515
14EZH2_27304074_Chip-Seq_ESCs_Mouse2.49688878
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.45805000
16DROSHA_22980978_ChIP-Seq_HELA_Human2.45304068
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.42196788
18MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.23349016
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.20803737
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.19419272
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.15751956
22* REST_18959480_ChIP-ChIP_MESCs_Mouse2.14044595
23TAF15_26573619_Chip-Seq_HEK293_Human2.14021678
24EZH2_27294783_Chip-Seq_ESCs_Mouse2.11295984
25ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.06916717
26IKZF1_21737484_ChIP-ChIP_HCT116_Human2.03093311
27AR_21572438_ChIP-Seq_LNCaP_Human2.01578472
28* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.97102977
29* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.86242115
30CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.80388599
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.79093034
32SMAD4_21799915_ChIP-Seq_A2780_Human1.76181273
33CTBP1_25329375_ChIP-Seq_LNCAP_Human1.76150982
34GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.71429653
35ZFP57_27257070_Chip-Seq_ESCs_Mouse1.69679881
36EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.66926307
37THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.64525800
38PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.57953689
39P300_19829295_ChIP-Seq_ESCs_Human1.56314310
40SMAD_19615063_ChIP-ChIP_OVARY_Human1.54702564
41TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.54413035
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.51044179
43ERG_21242973_ChIP-ChIP_JURKAT_Human1.49673305
44* SMAD3_21741376_ChIP-Seq_EPCs_Human1.48841333
45* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.46033210
46* NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.44535928
47SOX2_21211035_ChIP-Seq_LN229_Gbm1.36018987
48STAT3_23295773_ChIP-Seq_U87_Human1.33341962
49P53_22127205_ChIP-Seq_FIBROBLAST_Human1.29451312
50AR_25329375_ChIP-Seq_VCAP_Human1.27358188
51VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.26507260
52CTNNB1_20460455_ChIP-Seq_HCT116_Human1.26054069
53IGF1R_20145208_ChIP-Seq_DFB_Human1.24772405
54NR3C1_23031785_ChIP-Seq_PC12_Mouse1.24118075
55PIAS1_25552417_ChIP-Seq_VCAP_Human1.22927608
56* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.22340505
57PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.22036560
58AR_19668381_ChIP-Seq_PC3_Human1.20276401
59TOP2B_26459242_ChIP-Seq_MCF-7_Human1.19923520
60TCF4_23295773_ChIP-Seq_U87_Human1.19801036
61POU3F2_20337985_ChIP-ChIP_501MEL_Human1.19550477
62OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17779968
63ZNF217_24962896_ChIP-Seq_MCF-7_Human1.17388090
64RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.16333401
65AHR_22903824_ChIP-Seq_MCF-7_Human1.16100270
66ARNT_22903824_ChIP-Seq_MCF-7_Human1.15666139
67CBX2_27304074_Chip-Seq_ESCs_Mouse1.15620129
68* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.15482977
69TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15305556
70DNAJC2_21179169_ChIP-ChIP_NT2_Human1.14834765
71* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.13208192
72RING1B_27294783_Chip-Seq_ESCs_Mouse1.12815166
73RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.12775533
74BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.12761479
75FUS_26573619_Chip-Seq_HEK293_Human1.12725186
76* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.12176265
77ZFP281_18757296_ChIP-ChIP_E14_Mouse1.11333692
78TP53_16413492_ChIP-PET_HCT116_Human1.08764485
79RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.07635084
80SOX9_26525672_Chip-Seq_HEART_Mouse1.06038302
81RXR_22108803_ChIP-Seq_LS180_Human1.05376532
82MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.05291485
83* PRDM14_20953172_ChIP-Seq_ESCs_Human1.05029694
84LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04651287
85RUNX2_22187159_ChIP-Seq_PCA_Human1.04528409
86YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03868027
87* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.03452077
88AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.03450537
89KDM2B_26808549_Chip-Seq_REH_Human1.02355960
90SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.01349074
91RNF2_27304074_Chip-Seq_NSC_Mouse1.01305967
92* RING1B_27294783_Chip-Seq_NPCs_Mouse1.00359041
93ZFP281_27345836_Chip-Seq_ESCs_Mouse0.98469561
94TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.97984594
95SMAD3_21741376_ChIP-Seq_HESCs_Human0.97835099
96TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.97541739
97KDM2B_26808549_Chip-Seq_K562_Human0.97518050
98* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.96919852
99WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.96916721
100ZNF274_21170338_ChIP-Seq_K562_Hela0.96711421
101JUN_21703547_ChIP-Seq_K562_Human0.96326528
102MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.95228694
103RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.94849313
104EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.94643065
105NANOG_18555785_Chip-Seq_ESCs_Mouse0.94414100
106CDX2_19796622_ChIP-Seq_MESCs_Mouse0.93865350
107TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93860196
108POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.93860196
109NR3C1_21868756_ChIP-Seq_MCF10A_Human0.93679668
110TP53_18474530_ChIP-ChIP_U2OS_Human0.92812045
111SMAD3_21741376_ChIP-Seq_ESCs_Human0.91025647
112BCAT_22108803_ChIP-Seq_LS180_Human0.90520149
113GATA1_26923725_Chip-Seq_HPCs_Mouse0.90283012
114CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.90214208
115ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.90022157
116BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.88840913
117ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.88557966
118ER_23166858_ChIP-Seq_MCF-7_Human0.87904918
119CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.87832268

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002822_catalepsy6.55418074
2MP0004859_abnormal_synaptic_plasticity6.36093151
3MP0003880_abnormal_central_pattern5.31468523
4* MP0003635_abnormal_synaptic_transmissio4.23819789
5MP0009745_abnormal_behavioral_response3.92024653
6MP0002063_abnormal_learning/memory/cond3.62431675
7MP0004270_analgesia3.55162803
8MP0002064_seizures3.23496727
9MP0001968_abnormal_touch/_nociception3.11234349
10MP0009046_muscle_twitch3.09219127
11MP0002572_abnormal_emotion/affect_behav3.03426302
12MP0001486_abnormal_startle_reflex2.76615826
13MP0002272_abnormal_nervous_system2.61708587
14MP0001529_abnormal_vocalization2.36138907
15MP0002736_abnormal_nociception_after2.31569516
16MP0002734_abnormal_mechanical_nocicepti2.27369357
17MP0001501_abnormal_sleep_pattern2.23559911
18MP0005423_abnormal_somatic_nervous2.20011094
19MP0001440_abnormal_grooming_behavior2.03882074
20MP0005386_behavior/neurological_phenoty2.03114021
21MP0004924_abnormal_behavior2.03114021
22MP0005646_abnormal_pituitary_gland1.96074390
23MP0002067_abnormal_sensory_capabilities1.94523675
24MP0003879_abnormal_hair_cell1.91396459
25MP0000749_muscle_degeneration1.90550923
26MP0009780_abnormal_chondrocyte_physiolo1.88801297
27MP0001970_abnormal_pain_threshold1.83628595
28MP0002733_abnormal_thermal_nociception1.80756326
29MP0002735_abnormal_chemical_nociception1.80467293
30MP0008569_lethality_at_weaning1.78295327
31MP0002909_abnormal_adrenal_gland1.77265288
32MP0002557_abnormal_social/conspecific_i1.72922551
33MP0001984_abnormal_olfaction1.72622085
34MP0001188_hyperpigmentation1.61966204
35MP0005409_darkened_coat_color1.57918627
36MP0004811_abnormal_neuron_physiology1.54850224
37MP0002184_abnormal_innervation1.44079215
38MP0000778_abnormal_nervous_system1.39416326
39MP0003633_abnormal_nervous_system1.37718751
40MP0003787_abnormal_imprinting1.37189676
41MP0001905_abnormal_dopamine_level1.36807502
42MP0003329_amyloid_beta_deposits1.35245860
43MP0002066_abnormal_motor_capabilities/c1.34610686
44MP0004130_abnormal_muscle_cell1.28851697
45MP0003646_muscle_fatigue1.28300198
46MP0008872_abnormal_physiological_respon1.27594971
47MP0000955_abnormal_spinal_cord1.24417949
48MP0004885_abnormal_endolymph1.20203125
49MP0008874_decreased_physiological_sensi1.19826351
50MP0004036_abnormal_muscle_relaxation1.19790343
51MP0002882_abnormal_neuron_morphology1.19092828
52MP0000747_muscle_weakness1.18430227
53MP0001502_abnormal_circadian_rhythm1.15188196
54MP0001986_abnormal_taste_sensitivity1.10768640
55MP0000759_abnormal_skeletal_muscle1.08877365
56MP0003631_nervous_system_phenotype1.08413774
57MP0004142_abnormal_muscle_tone1.01398981
58MP0003075_altered_response_to0.99776747
59MP0002106_abnormal_muscle_physiology0.98425812
60MP0000013_abnormal_adipose_tissue0.98155384
61MP0004858_abnormal_nervous_system0.97470574
62MP0004085_abnormal_heartbeat0.96335514
63MP0002069_abnormal_eating/drinking_beha0.96039741
64MP0004087_abnormal_muscle_fiber0.95313343
65MP0006276_abnormal_autonomic_nervous0.94817093
66MP0000751_myopathy0.94011195
67MP0002152_abnormal_brain_morphology0.93626022
68MP0005620_abnormal_muscle_contractility0.92408226
69MP0001177_atelectasis0.91299799
70MP0003123_paternal_imprinting0.90098802
71MP0002876_abnormal_thyroid_physiology0.89080099
72MP0004145_abnormal_muscle_electrophysio0.87103154
73MP0005535_abnormal_body_temperature0.84967397
74MP0004742_abnormal_vestibular_system0.84137990
75MP0005167_abnormal_blood-brain_barrier0.83927253
76MP0008961_abnormal_basal_metabolism0.83383102
77MP0004147_increased_porphyrin_level0.82319930
78MP0005645_abnormal_hypothalamus_physiol0.82310402
79MP0005369_muscle_phenotype0.80041079
80MP0002269_muscular_atrophy0.77158224
81MP0002229_neurodegeneration0.76825221
82MP0001485_abnormal_pinna_reflex0.75330454
83MP0000569_abnormal_digit_pigmentation0.74939961
84MP0002638_abnormal_pupillary_reflex0.74596576
85MP0008877_abnormal_DNA_methylation0.73224773
86MP0004084_abnormal_cardiac_muscle0.73165171
87MP0005551_abnormal_eye_electrophysiolog0.72139693
88MP0002332_abnormal_exercise_endurance0.71630201
89MP0010386_abnormal_urinary_bladder0.69686047
90MP0000920_abnormal_myelination0.68812633
91MP0000631_abnormal_neuroendocrine_gland0.68390493
92MP0002837_dystrophic_cardiac_calcinosis0.68226469
93MP0001963_abnormal_hearing_physiology0.68090253
94MP0003690_abnormal_glial_cell0.67989060
95MP0004510_myositis0.64785509
96MP0005171_absent_coat_pigmentation0.64767956
97MP0001664_abnormal_digestion0.64721750
98MP0010234_abnormal_vibrissa_follicle0.63021742
99MP0005499_abnormal_olfactory_system0.60811465
100MP0005394_taste/olfaction_phenotype0.60811465
101MP0002090_abnormal_vision0.58111514
102MP0003122_maternal_imprinting0.57181281
103MP0004484_altered_response_of0.57068694
104MP0000750_abnormal_muscle_regeneration0.56954020
105MP0003121_genomic_imprinting0.56272591
106MP0003632_abnormal_nervous_system0.56106668
107MP0003137_abnormal_impulse_conducting0.55959965
108MP0000604_amyloidosis0.55231160
109MP0004215_abnormal_myocardial_fiber0.54333338
110MP0003045_fibrosis0.54260201
111MP0001299_abnormal_eye_distance/0.52966556
112MP0002752_abnormal_somatic_nervous0.52522398
113MP0004043_abnormal_pH_regulation0.52412961
114MP0001943_abnormal_respiration0.51710218
115MP0003634_abnormal_glial_cell0.51228511
116MP0003956_abnormal_body_size0.48134347
117MP0004233_abnormal_muscle_weight0.45934788
118MP0010769_abnormal_survival0.45860233
119MP0010770_preweaning_lethality0.44816835
120MP0002082_postnatal_lethality0.44816835
121MP0001765_abnormal_ion_homeostasis0.43801298
122MP0010768_mortality/aging0.43131977
123MP0005166_decreased_susceptibility_to0.42750197

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)9.41933873
2Myokymia (HP:0002411)7.81049504
3Focal seizures (HP:0007359)6.34189071
4Epileptic encephalopathy (HP:0200134)5.73261862
5Hyperventilation (HP:0002883)5.00792736
6Broad-based gait (HP:0002136)4.64277370
7Atonic seizures (HP:0010819)4.61724138
8Febrile seizures (HP:0002373)4.60212172
9Visual hallucinations (HP:0002367)4.56933434
10Nemaline bodies (HP:0003798)4.44275533
11Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)4.42358319
12Muscle fiber inclusion bodies (HP:0100299)4.41906451
13Poor eye contact (HP:0000817)4.25580939
14Absence seizures (HP:0002121)4.18781648
15Gaze-evoked nystagmus (HP:0000640)4.16662638
16Dialeptic seizures (HP:0011146)4.03661353
17Generalized tonic-clonic seizures (HP:0002069)3.94232535
18Exercise-induced myalgia (HP:0003738)3.77680809
19Annular pancreas (HP:0001734)3.77392183
20Abnormal social behavior (HP:0012433)3.70277455
21Impaired social interactions (HP:0000735)3.70277455
22Progressive cerebellar ataxia (HP:0002073)3.69963109
23Impaired vibration sensation in the lower limbs (HP:0002166)3.66690399
24Dysdiadochokinesis (HP:0002075)3.57095176
25Distal arthrogryposis (HP:0005684)3.56703221
26Akinesia (HP:0002304)3.51358139
27Dysmetric saccades (HP:0000641)3.48711232
28Amblyopia (HP:0000646)3.42416939
29Torticollis (HP:0000473)3.41229757
30Action tremor (HP:0002345)3.37302865
31Stereotypic behavior (HP:0000733)3.30849331
32Resting tremor (HP:0002322)3.27740920
33Anxiety (HP:0000739)3.27114702
34Depression (HP:0000716)3.22923903
35Type 1 muscle fiber predominance (HP:0003803)3.22576924
36Urinary bladder sphincter dysfunction (HP:0002839)3.19449581
37Truncal ataxia (HP:0002078)3.15289703
38Scanning speech (HP:0002168)3.12212389
39Dysmetria (HP:0001310)3.10809945
40Exercise-induced muscle cramps (HP:0003710)3.08325482
41Focal dystonia (HP:0004373)3.05457088
42Hyporeflexia of lower limbs (HP:0002600)2.98462944
43Impaired smooth pursuit (HP:0007772)2.97565991
44Muscle hypertrophy of the lower extremities (HP:0008968)2.91019730
45Ankle clonus (HP:0011448)2.89524388
46Calf muscle hypertrophy (HP:0008981)2.89362686
47Craniofacial dystonia (HP:0012179)2.88093114
48Abnormal eating behavior (HP:0100738)2.86373699
49Drooling (HP:0002307)2.83210125
50Excessive salivation (HP:0003781)2.83210125
51Sudden death (HP:0001699)2.82881314
52Subaortic stenosis (HP:0001682)2.81678869
53Abnormality of the left ventricular outflow tract (HP:0011103)2.81678869
54Round ear (HP:0100830)2.78813143
55Protruding tongue (HP:0010808)2.74410117
56Impaired vibratory sensation (HP:0002495)2.67954377
57Urinary urgency (HP:0000012)2.66437078
58Postural instability (HP:0002172)2.65988986
59Epileptiform EEG discharges (HP:0011182)2.65805517
60Inability to walk (HP:0002540)2.50776707
61Bundle branch block (HP:0011710)2.49833982
62Lower limb amyotrophy (HP:0007210)2.47905998
63Difficulty running (HP:0009046)2.45229609
64Status epilepticus (HP:0002133)2.44244309
65Abnormality of ocular smooth pursuit (HP:0000617)2.44117686
66Bradykinesia (HP:0002067)2.39263250
67Ankyloglossia (HP:0010296)2.37654392
68Genetic anticipation (HP:0003743)2.37543503
69EEG with generalized epileptiform discharges (HP:0011198)2.37218185
70Fetal akinesia sequence (HP:0001989)2.36998453
71Insidious onset (HP:0003587)2.36398001
72Termporal pattern (HP:0011008)2.36398001
73Muscle fiber splitting (HP:0003555)2.36256119
74Myotonia (HP:0002486)2.35433670
75Supranuclear gaze palsy (HP:0000605)2.35281554
76Spastic gait (HP:0002064)2.34697750
77Incomplete penetrance (HP:0003829)2.34193148
78Absent speech (HP:0001344)2.32935598
79Progressive inability to walk (HP:0002505)2.28131210
80Cerebral hypomyelination (HP:0006808)2.27842230
81Blue irides (HP:0000635)2.26684859
82Abnormality of the lower motor neuron (HP:0002366)2.26289488
83EMG: myopathic abnormalities (HP:0003458)2.25977103
84Calcaneovalgus deformity (HP:0001848)2.25293483
85Myopathic facies (HP:0002058)2.24675526
86Hemiparesis (HP:0001269)2.24269455
87Pointed chin (HP:0000307)2.24005855
88Papilledema (HP:0001085)2.21583618
89Hypsarrhythmia (HP:0002521)2.20570386
90Ulnar deviation of the wrist (HP:0003049)2.17271070
91Prolonged QT interval (HP:0001657)2.16514667
92Malignant hyperthermia (HP:0002047)2.14611418
93Popliteal pterygium (HP:0009756)2.14493368
94EMG: neuropathic changes (HP:0003445)2.14108087
95Abnormality of the calf musculature (HP:0001430)2.13731957
96Tetraplegia (HP:0002445)2.13352338
97Clonus (HP:0002169)2.10504979
98Intention tremor (HP:0002080)2.08367060
99Distal lower limb amyotrophy (HP:0008944)2.07980067
100Abnormal EKG (HP:0003115)2.04391707
101Mutism (HP:0002300)2.03645664
102Gait ataxia (HP:0002066)2.01195023
103Deeply set eye (HP:0000490)1.98053201
104Hemiplegia (HP:0002301)1.97726223
105Deformed tarsal bones (HP:0008119)1.96248328
106Abnormality of saccadic eye movements (HP:0000570)1.95656368
107Limb dystonia (HP:0002451)1.94738926
108Lower limb muscle weakness (HP:0007340)1.94714974
109Frequent falls (HP:0002359)1.94123847
110Cerebral inclusion bodies (HP:0100314)1.92160408
111Generalized myoclonic seizures (HP:0002123)1.91967116
112Neuronal loss in central nervous system (HP:0002529)1.91502708
113Diplopia (HP:0000651)1.89353902
114Abnormality of binocular vision (HP:0011514)1.89353902
115Lower limb asymmetry (HP:0100559)1.87016049
116Spinal canal stenosis (HP:0003416)1.84679198
117Generalized hypopigmentation of hair (HP:0011358)1.84653273
118Megalencephaly (HP:0001355)1.84394913
119Abnormality of the corticospinal tract (HP:0002492)1.83482678
120Abnormality of salivation (HP:0100755)1.83368459
121Thickened helices (HP:0000391)1.82187227
122Short chin (HP:0000331)1.80299725
123Gait imbalance (HP:0002141)1.79619536
124Abnormality of oral frenula (HP:0000190)1.79112307
125Obstructive sleep apnea (HP:0002870)1.77534110
126Abnormality of the periventricular white matter (HP:0002518)1.77010901
127Inappropriate behavior (HP:0000719)1.76267495
128Fair hair (HP:0002286)1.75695529
129Dynein arm defect of respiratory motile cilia (HP:0012255)1.75630581
130Absent/shortened dynein arms (HP:0200106)1.75630581
131Gastroesophageal reflux (HP:0002020)1.75440351
132Autism (HP:0000717)1.71531366
133Neurofibrillary tangles (HP:0002185)1.66454764

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA46.59790031
2NTRK34.30468713
3CASK3.61523192
4DAPK23.34220226
5MAP3K93.08388314
6RIPK42.80604550
7MAP3K42.44061301
8OBSCN2.39808050
9PHKG12.32843730
10PHKG22.32843730
11DAPK12.18225300
12CAMKK22.15355016
13MAP2K72.13239980
14KSR22.11903196
15MINK12.10011218
16CAMKK12.08323995
17KSR12.01642760
18TNIK1.86566438
19CDK191.63957961
20MAP3K131.62468874
21ARAF1.60292532
22SIK31.58096055
23PRPF4B1.58035173
24PLK21.57951378
25MAP3K121.57125998
26NTRK21.56894332
27PAK61.56316081
28MARK11.53077397
29CCNB11.45952260
30SIK21.45269536
31MAP2K41.45082088
32CDK51.44888729
33FES1.43925492
34PRKD31.41045329
35LATS21.34298214
36NTRK11.28577405
37BMPR21.25919676
38TAOK11.24407454
39SGK21.15278748
40SGK2231.11111495
41SGK4941.11111495
42RAF11.10694434
43MAP3K21.07585000
44MAPK131.03037114
45AKT31.02921362
46PRKCG1.00262215
47PTK2B0.99295545
48CAMK2A0.97980092
49GRK50.97060403
50TYRO30.95465962
51CDK180.90520993
52SGK30.90362861
53CAMK2B0.87624532
54OXSR10.87399194
55SGK10.84991572
56STK380.82670111
57CAMK10.82361298
58CDK150.81952643
59STK110.78497869
60PKN10.77840568
61CDK140.77324106
62CDK11A0.71335428
63RIPK10.71064738
64DAPK30.67071579
65PAK30.66982947
66MARK20.66932509
67PRKCH0.66709069
68BRAF0.64182988
69PDPK10.63632189
70PDK10.62565469
71UHMK10.62080850
72MAPK70.59543519
73BCR0.58472831
74PINK10.57166979
75RET0.56516599
76MAPK40.55980253
77CAMK40.54277738
78MAP3K10.54272113
79NEK60.53416832
80MAP2K10.51890283
81TNK20.51675616
82FGR0.49675020
83PNCK0.49143157
84PRKG10.45728908
85RPS6KA30.45512263
86DYRK1A0.45084949
87PIK3CG0.44848936
88PRKCE0.43554265
89FYN0.43281839
90ALK0.42629135
91MUSK0.42365314
92MAPK120.41470992
93LIMK10.39738517
94MAPKAPK50.39625634
95CAMK2D0.37361587
96CSNK1D0.37361217
97ROCK20.36807692
98RPS6KB10.36117708
99PRKCB0.35322286
100MAPK100.34586989
101PRKCZ0.34463288
102MAP3K100.34171663
103ADRBK20.33331254
104NEK10.32706545
105CAMK2G0.31847481
106DMPK0.31040043
107MOS0.31006615
108CSNK1G20.30870306
109PRKACB0.29786799
110GSK3B0.29389133
111CSNK1A10.27920739
112MAP3K60.27727933
113MAPK80.27654126
114* PRKACA0.27434391
115FGFR20.27367029
116PRKCA0.26660548
117MAP3K70.25777334
118CDC42BPA0.24590423
119WNK10.22851089
120ADRBK10.22777647

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.65652793
2Olfactory transduction_Homo sapiens_hsa047403.30014521
3Synaptic vesicle cycle_Homo sapiens_hsa047213.07134602
4Amphetamine addiction_Homo sapiens_hsa050313.01355903
5Long-term potentiation_Homo sapiens_hsa047202.96612580
6Morphine addiction_Homo sapiens_hsa050322.95552807
7Circadian entrainment_Homo sapiens_hsa047132.87879282
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.73707784
9GABAergic synapse_Homo sapiens_hsa047272.66637676
10Glutamatergic synapse_Homo sapiens_hsa047242.63782970
11Dopaminergic synapse_Homo sapiens_hsa047282.45017708
12Cocaine addiction_Homo sapiens_hsa050302.26652122
13Salivary secretion_Homo sapiens_hsa049702.26493439
14Renin secretion_Homo sapiens_hsa049242.10840672
15Cholinergic synapse_Homo sapiens_hsa047252.03458798
16Oxytocin signaling pathway_Homo sapiens_hsa049211.89535214
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.87777771
18Calcium signaling pathway_Homo sapiens_hsa040201.85209912
19Insulin secretion_Homo sapiens_hsa049111.83273242
20Gastric acid secretion_Homo sapiens_hsa049711.81645259
21Long-term depression_Homo sapiens_hsa047301.77336747
22Serotonergic synapse_Homo sapiens_hsa047261.74739930
23Taste transduction_Homo sapiens_hsa047421.74280343
24Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.70493491
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.64269695
26Collecting duct acid secretion_Homo sapiens_hsa049661.61648577
27Gap junction_Homo sapiens_hsa045401.50763811
28cAMP signaling pathway_Homo sapiens_hsa040241.41949965
29GnRH signaling pathway_Homo sapiens_hsa049121.39912650
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.32568097
31Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.23529239
32Phosphatidylinositol signaling system_Homo sapiens_hsa040701.23456349
33cGMP-PKG signaling pathway_Homo sapiens_hsa040221.13430087
34Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.11055316
35Glioma_Homo sapiens_hsa052141.09723360
36Phototransduction_Homo sapiens_hsa047441.09512207
37Vascular smooth muscle contraction_Homo sapiens_hsa042701.04785328
38Estrogen signaling pathway_Homo sapiens_hsa049151.02679970
39Melanogenesis_Homo sapiens_hsa049160.97544561
40Type II diabetes mellitus_Homo sapiens_hsa049300.97360739
41Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.96151387
42Axon guidance_Homo sapiens_hsa043600.95263209
43ErbB signaling pathway_Homo sapiens_hsa040120.95082232
44Cardiac muscle contraction_Homo sapiens_hsa042600.87521356
45Vibrio cholerae infection_Homo sapiens_hsa051100.85233384
46Oocyte meiosis_Homo sapiens_hsa041140.83389736
47Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.83310903
48Phospholipase D signaling pathway_Homo sapiens_hsa040720.79211933
49Pancreatic secretion_Homo sapiens_hsa049720.77755780
50Alcoholism_Homo sapiens_hsa050340.76469130
51Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.75014456
52Dilated cardiomyopathy_Homo sapiens_hsa054140.74402931
53Vitamin B6 metabolism_Homo sapiens_hsa007500.74092112
54Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.72412421
55MAPK signaling pathway_Homo sapiens_hsa040100.71902680
56Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.70336167
57Dorso-ventral axis formation_Homo sapiens_hsa043200.68282876
58Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.66404263
59Choline metabolism in cancer_Homo sapiens_hsa052310.66243681
60Non-small cell lung cancer_Homo sapiens_hsa052230.66210884
61Rap1 signaling pathway_Homo sapiens_hsa040150.64610583
62Circadian rhythm_Homo sapiens_hsa047100.62718152
63Thyroid hormone synthesis_Homo sapiens_hsa049180.60475749
64VEGF signaling pathway_Homo sapiens_hsa043700.59627218
65Ras signaling pathway_Homo sapiens_hsa040140.56812157
66Glucagon signaling pathway_Homo sapiens_hsa049220.56215839
67Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.55821564
68Neurotrophin signaling pathway_Homo sapiens_hsa047220.55719042
69African trypanosomiasis_Homo sapiens_hsa051430.55648562
70Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.53239434
71Type I diabetes mellitus_Homo sapiens_hsa049400.52137314
72Nitrogen metabolism_Homo sapiens_hsa009100.50906727
73Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.50680307
74Inositol phosphate metabolism_Homo sapiens_hsa005620.49944870
75Thyroid hormone signaling pathway_Homo sapiens_hsa049190.49928964
76Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.46543397
77Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.45736952
78AMPK signaling pathway_Homo sapiens_hsa041520.45364703
79Chemokine signaling pathway_Homo sapiens_hsa040620.45288378
80Sphingolipid signaling pathway_Homo sapiens_hsa040710.44134496
81Alzheimers disease_Homo sapiens_hsa050100.39983278
82Tight junction_Homo sapiens_hsa045300.39500629
83mTOR signaling pathway_Homo sapiens_hsa041500.38334967
84Longevity regulating pathway - mammal_Homo sapiens_hsa042110.38303490
85Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.35759193
86Carbohydrate digestion and absorption_Homo sapiens_hsa049730.34516834
87Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.34174408
88Arginine biosynthesis_Homo sapiens_hsa002200.34172801
89Endometrial cancer_Homo sapiens_hsa052130.32671768
90Wnt signaling pathway_Homo sapiens_hsa043100.32449558
91Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.32074696
92Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.31591143
93Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.30765894
94Prion diseases_Homo sapiens_hsa050200.30442616
95Platelet activation_Homo sapiens_hsa046110.30369798
96Renal cell carcinoma_Homo sapiens_hsa052110.30217641
97Insulin signaling pathway_Homo sapiens_hsa049100.30085995
98Arginine and proline metabolism_Homo sapiens_hsa003300.29083935
99Bile secretion_Homo sapiens_hsa049760.28794742
100SNARE interactions in vesicular transport_Homo sapiens_hsa041300.28615919
101Endocytosis_Homo sapiens_hsa041440.28189239
102Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.27375472
103Ovarian steroidogenesis_Homo sapiens_hsa049130.25920703
104Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.25719480
105Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.24688979
106Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.24545353
107FoxO signaling pathway_Homo sapiens_hsa040680.24132022
108Fatty acid biosynthesis_Homo sapiens_hsa000610.23063271
109Colorectal cancer_Homo sapiens_hsa052100.22715597
1102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.21892185
111Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.18924420

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