PRKAR1B

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 is a regulatory subunit of cyclic AMP-dependent protein kinase A (PKA), which is involved in the signaling pathway of the second messenger cAMP. Two regulatory and two catalytic subunits form the PKA holoenzyme, disbands after cAMP binding. The holoenzyme is involved in many cellular events, including ion transport, metabolism, and transcription. Several transcript variants encoding the same protein have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.43593988
2synaptic vesicle maturation (GO:0016188)6.20025422
3synaptic vesicle exocytosis (GO:0016079)5.93191495
4glutamate secretion (GO:0014047)5.79018199
5vocalization behavior (GO:0071625)5.58365653
6regulation of synaptic vesicle exocytosis (GO:2000300)5.56351616
7locomotory exploration behavior (GO:0035641)5.55894431
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.53310705
9positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.46524177
10synaptic vesicle docking involved in exocytosis (GO:0016081)5.42552906
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.29878139
12L-amino acid import (GO:0043092)5.15187333
13regulation of glutamate receptor signaling pathway (GO:1900449)5.00450195
14regulation of synaptic vesicle transport (GO:1902803)4.93653215
15neurotransmitter secretion (GO:0007269)4.89826348
16protein localization to synapse (GO:0035418)4.89485107
17cerebellar granule cell differentiation (GO:0021707)4.88488963
18neuronal action potential propagation (GO:0019227)4.77119378
19amino acid import (GO:0043090)4.69560885
20neuron cell-cell adhesion (GO:0007158)4.68832814
21exploration behavior (GO:0035640)4.48229540
22regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.47889070
23ionotropic glutamate receptor signaling pathway (GO:0035235)4.43185763
24regulation of neuronal synaptic plasticity (GO:0048168)4.37203787
25regulation of long-term neuronal synaptic plasticity (GO:0048169)4.29391394
26regulation of voltage-gated calcium channel activity (GO:1901385)4.27239762
27positive regulation of dendritic spine development (GO:0060999)4.24734829
28proline transport (GO:0015824)4.12782839
29neurotransmitter-gated ion channel clustering (GO:0072578)4.10030690
30layer formation in cerebral cortex (GO:0021819)4.09216159
31synaptic transmission, glutamatergic (GO:0035249)4.06960694
32potassium ion homeostasis (GO:0055075)4.06636368
33positive regulation of dendritic spine morphogenesis (GO:0061003)4.06558286
34gamma-aminobutyric acid transport (GO:0015812)4.04967792
35axon ensheathment in central nervous system (GO:0032291)4.04192373
36central nervous system myelination (GO:0022010)4.04192373
37regulation of ARF protein signal transduction (GO:0032012)3.97680707
38neuron-neuron synaptic transmission (GO:0007270)3.97111580
39neurotransmitter transport (GO:0006836)3.96577142
40regulation of synapse structural plasticity (GO:0051823)3.95541674
41regulation of synapse maturation (GO:0090128)3.95070955
42glutamate receptor signaling pathway (GO:0007215)3.94210097
43membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.79889833
44potassium ion import (GO:0010107)3.76886578
45positive regulation of membrane potential (GO:0045838)3.73730150
46cellular potassium ion homeostasis (GO:0030007)3.71900272
47dendritic spine morphogenesis (GO:0060997)3.71538139
48regulation of excitatory postsynaptic membrane potential (GO:0060079)3.70659341
49long-term memory (GO:0007616)3.70609371
50negative regulation of synaptic transmission, GABAergic (GO:0032229)3.69212607
51regulation of neurotransmitter levels (GO:0001505)3.67337945
52synaptic vesicle endocytosis (GO:0048488)3.65388463
53regulation of neurotransmitter secretion (GO:0046928)3.64108650
54gamma-aminobutyric acid signaling pathway (GO:0007214)3.59396386
55cytoskeletal anchoring at plasma membrane (GO:0007016)3.59108262
56neuromuscular process controlling posture (GO:0050884)3.58980302
57dendritic spine organization (GO:0097061)3.57168688
58vesicle docking involved in exocytosis (GO:0006904)3.56473566
59regulation of postsynaptic membrane potential (GO:0060078)3.55193139
60regulation of synaptic plasticity (GO:0048167)3.54876326
61positive regulation of synaptic transmission, GABAergic (GO:0032230)3.53004690
62long-term synaptic potentiation (GO:0060291)3.48841119
63neuron recognition (GO:0008038)3.47384067
64regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.46455833
65positive regulation of synapse maturation (GO:0090129)3.46370614
66regulation of dendritic spine development (GO:0060998)3.46015895
67acidic amino acid transport (GO:0015800)3.45027323
68cerebellar Purkinje cell differentiation (GO:0021702)3.44023831
69cellular sodium ion homeostasis (GO:0006883)3.43833292
70postsynaptic membrane organization (GO:0001941)3.42820259
71regulation of vesicle fusion (GO:0031338)3.42058530
72neurotransmitter uptake (GO:0001504)3.39487788
73regulation of neurotransmitter transport (GO:0051588)3.35797137
74sodium ion export (GO:0071436)3.33835912
75regulation of synaptic transmission, glutamatergic (GO:0051966)3.33449856
76positive regulation of neurotransmitter transport (GO:0051590)3.31597737
77regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.30792024
78positive regulation of neurotransmitter secretion (GO:0001956)3.29993231
79transmission of nerve impulse (GO:0019226)3.28192433
80positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.28102473
81positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.25291903
82positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.25124408
83vesicle docking (GO:0048278)3.24281909
84neuromuscular process controlling balance (GO:0050885)3.23813554
85glycine transport (GO:0015816)3.21039630
86regulation of dendritic spine morphogenesis (GO:0061001)3.20858778
87regulation of exocytosis (GO:0017157)3.18256597
88presynaptic membrane assembly (GO:0097105)3.17834158
89vesicle transport along microtubule (GO:0047496)3.16644956
90cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.16619348
91dicarboxylic acid transport (GO:0006835)3.16582965
92* activation of protein kinase A activity (GO:0034199)3.16167267
93membrane depolarization during action potential (GO:0086010)3.14599238
94response to auditory stimulus (GO:0010996)3.12380552
95membrane depolarization (GO:0051899)3.11774525
96cerebellar Purkinje cell layer development (GO:0021680)3.11480005
97positive regulation of synaptic transmission (GO:0050806)3.10803492
98axonal fasciculation (GO:0007413)3.09513421
99synaptic transmission (GO:0007268)3.08206121
100positive regulation of dendrite development (GO:1900006)3.07520788
101auditory behavior (GO:0031223)3.07505525
102regulation of synaptic transmission (GO:0050804)3.07172852
103G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.05798458
104L-glutamate transport (GO:0015813)3.05791774
105intraspecies interaction between organisms (GO:0051703)3.05012368
106social behavior (GO:0035176)3.05012368
107neuromuscular synaptic transmission (GO:0007274)3.04999782
108response to histamine (GO:0034776)3.04927640
109membrane hyperpolarization (GO:0060081)3.04857894
110cell differentiation in hindbrain (GO:0021533)3.03603395
111cell migration in hindbrain (GO:0021535)3.03413109
112negative regulation of dendrite morphogenesis (GO:0050774)3.02764000
113presynaptic membrane organization (GO:0097090)3.02018006
114signal release (GO:0023061)3.01706012
115synaptic vesicle transport (GO:0048489)2.99999616
116establishment of synaptic vesicle localization (GO:0097480)2.99999616
117cell communication by electrical coupling (GO:0010644)2.98990991
118negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.98510940
119learning (GO:0007612)2.98431293
120synapse assembly (GO:0007416)2.97658832
121calcium ion-dependent exocytosis (GO:0017156)2.96668739
122regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.95238334
123regulation of synaptic transmission, GABAergic (GO:0032228)2.94310691
124innervation (GO:0060384)2.92183598
125neuronal ion channel clustering (GO:0045161)2.91925693
126regulation of glutamate secretion (GO:0014048)2.91208333
127neuromuscular process (GO:0050905)2.90924119
128dendrite morphogenesis (GO:0048813)2.89683387
129G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.89220777

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.06559549
2GBX2_23144817_ChIP-Seq_PC3_Human3.56202351
3THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.34629237
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.23056757
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.10033272
6JARID2_20064375_ChIP-Seq_MESCs_Mouse3.08025385
7REST_21632747_ChIP-Seq_MESCs_Mouse2.96304135
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.73404610
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.73404610
10* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.67696016
11RARB_27405468_Chip-Seq_BRAIN_Mouse2.66221867
12SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.65428535
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.60769565
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.57648300
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.56510739
16* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.52337473
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.51186502
18REST_18959480_ChIP-ChIP_MESCs_Mouse2.47416450
19* DROSHA_22980978_ChIP-Seq_HELA_Human2.41756590
20NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.37479438
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.30610670
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.27755775
23EZH2_27294783_Chip-Seq_ESCs_Mouse2.25444928
24IKZF1_21737484_ChIP-ChIP_HCT116_Human2.20985094
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.18471579
26RNF2_27304074_Chip-Seq_ESCs_Mouse2.15913589
27MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.03438161
28GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.98963307
29CTBP2_25329375_ChIP-Seq_LNCAP_Human1.88176527
30TAF15_26573619_Chip-Seq_HEK293_Human1.87752179
31LXR_22292898_ChIP-Seq_THP-1_Human1.87373046
32ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.83696602
33* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.78979624
34AR_21572438_ChIP-Seq_LNCaP_Human1.76048029
35SRY_22984422_ChIP-ChIP_TESTIS_Rat1.73091552
36SMAD4_21799915_ChIP-Seq_A2780_Human1.67205252
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.66649376
38SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.64463435
39ERG_21242973_ChIP-ChIP_JURKAT_Human1.63014999
40KDM2B_26808549_Chip-Seq_SUP-B15_Human1.59744792
41TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.59197964
42SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.55694772
43ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.55599259
44ZFP281_27345836_Chip-Seq_ESCs_Mouse1.54107034
45ESR2_21235772_ChIP-Seq_MCF-7_Human1.39959321
46ZNF274_21170338_ChIP-Seq_K562_Hela1.39541884
47ZFP57_27257070_Chip-Seq_ESCs_Mouse1.39132920
48RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.38518868
49NR3C1_23031785_ChIP-Seq_PC12_Mouse1.37920570
50ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.36740423
51P300_19829295_ChIP-Seq_ESCs_Human1.35609294
52SOX2_21211035_ChIP-Seq_LN229_Gbm1.34918439
53PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.32993964
54DNAJC2_21179169_ChIP-ChIP_NT2_Human1.32267297
55SMC4_20622854_ChIP-Seq_HELA_Human1.32217135
56SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.32199058
57RING1B_27294783_Chip-Seq_ESCs_Mouse1.28670302
58TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.27672009
59BMI1_23680149_ChIP-Seq_NPCS_Mouse1.27047527
60PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.26783622
61AR_25329375_ChIP-Seq_VCAP_Human1.26645113
62P68_20966046_ChIP-Seq_HELA_Human1.25591985
63SMAD_19615063_ChIP-ChIP_OVARY_Human1.24683664
64SMAD3_21741376_ChIP-Seq_EPCs_Human1.23494520
65SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.21996867
66OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.21585865
67TOP2B_26459242_ChIP-Seq_MCF-7_Human1.19259844
68SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.19197229
69KDM2B_26808549_Chip-Seq_DND41_Human1.17918560
70OCT4_19829295_ChIP-Seq_ESCs_Human1.17640758
71RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.17623901
72STAT3_23295773_ChIP-Seq_U87_Human1.17559768
73* AR_19668381_ChIP-Seq_PC3_Human1.17270724
74CBX2_27304074_Chip-Seq_ESCs_Mouse1.15108875
75OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13486613
76PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.12589472
77CREB1_26743006_Chip-Seq_LNCaP_Human1.12576663
78SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.11550599
79IGF1R_20145208_ChIP-Seq_DFB_Human1.11465459
80P53_22127205_ChIP-Seq_FIBROBLAST_Human1.10992005
81TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.10230622
82TET1_21451524_ChIP-Seq_MESCs_Mouse1.09951422
83SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09538359
84GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09462070
85RNF2_27304074_Chip-Seq_NSC_Mouse1.09402278
86GATA1_26923725_Chip-Seq_HPCs_Mouse1.09032179
87PIAS1_25552417_ChIP-Seq_VCAP_Human1.08853705
88SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.08577246
89WT1_25993318_ChIP-Seq_PODOCYTE_Human1.08007807
90UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.06583670
91ZFP281_18757296_ChIP-ChIP_E14_Mouse1.04583792
92* TCF4_23295773_ChIP-Seq_U87_Human1.03646495
93* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.03190561
94MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02506143
95DPY_21335234_ChIP-Seq_ESCs_Mouse1.02045810
96* SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.01492403
97TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.00550008
98YAP1_20516196_ChIP-Seq_MESCs_Mouse0.99727104
99RING1B_27294783_Chip-Seq_NPCs_Mouse0.99212776
100TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.98554239
101ARNT_22903824_ChIP-Seq_MCF-7_Human0.98169428
102CDX2_19796622_ChIP-Seq_MESCs_Mouse0.97815979
103RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.97278922
104KDM2B_26808549_Chip-Seq_K562_Human0.96897409
105SMAD3_21741376_ChIP-Seq_ESCs_Human0.96414510
106PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.95578094
107KDM2B_26808549_Chip-Seq_JURKAT_Human0.95057514
108* KLF4_19829295_ChIP-Seq_ESCs_Human0.94969380
109AHR_22903824_ChIP-Seq_MCF-7_Human0.94803992
110ZNF217_24962896_ChIP-Seq_MCF-7_Human0.93533336
111RUNX2_22187159_ChIP-Seq_PCA_Human0.93411048
112PRDM14_20953172_ChIP-Seq_ESCs_Human0.93170689
113* CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.92925633
114AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.92451017
115PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.92190534
116POU3F2_20337985_ChIP-ChIP_501MEL_Human0.91539955
117SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.90965697
118NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.90925912
119GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.90667771
120* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.90593058
121UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.89712308
122CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.89230726
123RUNX1_26923725_Chip-Seq_HPCs_Mouse0.89017712
124JUN_21703547_ChIP-Seq_K562_Human0.88997343
125SMAD4_21741376_ChIP-Seq_HESCs_Human0.88978789
126SA1_27219007_Chip-Seq_ERYTHROID_Human0.88912928
127MYC_19915707_ChIP-ChIP_AK7_Human0.88221890
128EGR1_19032775_ChIP-ChIP_M12_Human0.87941239
129CTCF_27219007_Chip-Seq_ERYTHROID_Human0.86801648
130CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86710487
131TET1_21490601_ChIP-Seq_MESCs_Mouse0.85962691
132TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85716767
133NR3C1_21868756_ChIP-Seq_MCF10A_Human0.85619942
134MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.84867494
135GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84840034
136* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.83840872
137FUS_26573619_Chip-Seq_HEK293_Human0.83153916
138TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.83112721
139SA1_27219007_Chip-Seq_Bcells_Human0.82187506
140VDR_22108803_ChIP-Seq_LS180_Human0.81478786
141KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.81192458
142SMAD3_21741376_ChIP-Seq_HESCs_Human0.81039000
143* SMAD4_21741376_ChIP-Seq_ESCs_Human0.80702908
144CTCF_27219007_Chip-Seq_Bcells_Human0.80235255
145TP53_23651856_ChIP-Seq_MEFs_Mouse0.78974578
146TCF7_22412390_ChIP-Seq_EML_Mouse0.76567650
147SOX3_22085726_ChIP-Seq_MUSCLE_Mouse0.76222645
148FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.75342402
149RACK7_27058665_Chip-Seq_MCF-7_Human0.73776032

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.36326852
2MP0003880_abnormal_central_pattern4.95727758
3* MP0003635_abnormal_synaptic_transmissio4.16827906
4MP0004270_analgesia3.74886124
5MP0009745_abnormal_behavioral_response3.47916702
6MP0002063_abnormal_learning/memory/cond3.31982215
7MP0002064_seizures3.29560744
8MP0009046_muscle_twitch3.25996013
9* MP0001968_abnormal_touch/_nociception2.97854191
10MP0002572_abnormal_emotion/affect_behav2.82667115
11MP0002734_abnormal_mechanical_nocicepti2.80774454
12MP0005423_abnormal_somatic_nervous2.78992525
13MP0002272_abnormal_nervous_system2.67505559
14MP0002822_catalepsy2.63881402
15MP0001486_abnormal_startle_reflex2.47472528
16MP0002735_abnormal_chemical_nociception2.44583805
17MP0001501_abnormal_sleep_pattern2.39857201
18MP0001440_abnormal_grooming_behavior2.19842860
19MP0009780_abnormal_chondrocyte_physiolo2.19114078
20* MP0002733_abnormal_thermal_nociception2.10624058
21MP0006276_abnormal_autonomic_nervous2.03980603
22* MP0001970_abnormal_pain_threshold2.03228202
23* MP0002736_abnormal_nociception_after2.03113768
24* MP0002067_abnormal_sensory_capabilities1.98635652
25MP0004858_abnormal_nervous_system1.91830724
26MP0003329_amyloid_beta_deposits1.89864659
27MP0008569_lethality_at_weaning1.86672358
28MP0002909_abnormal_adrenal_gland1.84326549
29MP0002184_abnormal_innervation1.81206617
30MP0004811_abnormal_neuron_physiology1.79815107
31MP0005646_abnormal_pituitary_gland1.77033733
32MP0002557_abnormal_social/conspecific_i1.76175514
33MP0004924_abnormal_behavior1.73675976
34MP0005386_behavior/neurological_phenoty1.73675976
35MP0003879_abnormal_hair_cell1.67072492
36MP0003122_maternal_imprinting1.66243456
37MP0000778_abnormal_nervous_system1.61176483
38MP0003787_abnormal_imprinting1.60465246
39MP0000955_abnormal_spinal_cord1.56609032
40MP0001984_abnormal_olfaction1.55277309
41MP0005645_abnormal_hypothalamus_physiol1.52723911
42MP0002066_abnormal_motor_capabilities/c1.43160898
43MP0001529_abnormal_vocalization1.39439514
44MP0002882_abnormal_neuron_morphology1.39204442
45MP0004142_abnormal_muscle_tone1.36319307
46MP0003633_abnormal_nervous_system1.34977619
47MP0001905_abnormal_dopamine_level1.33335607
48MP0001502_abnormal_circadian_rhythm1.30429448
49MP0004885_abnormal_endolymph1.26362959
50MP0000013_abnormal_adipose_tissue1.17871420
51MP0003631_nervous_system_phenotype1.12813058
52MP0000751_myopathy1.11138085
53MP0008872_abnormal_physiological_respon1.09066914
54MP0010386_abnormal_urinary_bladder1.05500001
55MP0002837_dystrophic_cardiac_calcinosis1.05106337
56MP0001346_abnormal_lacrimal_gland1.02739346
57MP0002152_abnormal_brain_morphology1.02693643
58MP0002229_neurodegeneration0.98258621
59MP0001188_hyperpigmentation0.98218410
60MP0002069_abnormal_eating/drinking_beha0.97642115
61MP0004147_increased_porphyrin_level0.94083409
62MP0005535_abnormal_body_temperature0.92801162
63MP0003283_abnormal_digestive_organ0.90172130
64MP0004145_abnormal_muscle_electrophysio0.89870269
65MP0008874_decreased_physiological_sensi0.89812453
66MP0001348_abnormal_lacrimal_gland0.87413602
67MP0000604_amyloidosis0.85218334
68MP0008961_abnormal_basal_metabolism0.84922597
69MP0005551_abnormal_eye_electrophysiolog0.83595722
70MP0002876_abnormal_thyroid_physiology0.81907450
71MP0001177_atelectasis0.80922171
72MP0004085_abnormal_heartbeat0.80598086
73MP0003634_abnormal_glial_cell0.80008920
74MP0004742_abnormal_vestibular_system0.78997920
75MP0001963_abnormal_hearing_physiology0.78804943
76MP0005499_abnormal_olfactory_system0.78801815
77MP0005394_taste/olfaction_phenotype0.78801815
78MP0000579_abnormal_nail_morphology0.76436725
79MP0003632_abnormal_nervous_system0.75388118
80MP0004510_myositis0.74658283
81MP0003690_abnormal_glial_cell0.73902461
82MP0003075_altered_response_to0.72889071
83MP0001664_abnormal_digestion0.72053525
84MP0000631_abnormal_neuroendocrine_gland0.70902993
85MP0000569_abnormal_digit_pigmentation0.70797269
86MP0002752_abnormal_somatic_nervous0.70554399
87MP0002638_abnormal_pupillary_reflex0.69264317
88MP0002090_abnormal_vision0.67696523
89MP0004043_abnormal_pH_regulation0.67664561
90MP0004130_abnormal_muscle_cell0.66519287
91MP0000920_abnormal_myelination0.65546428
92MP0004215_abnormal_myocardial_fiber0.65222143
93MP0002089_abnormal_postnatal_growth/wei0.64193108
94MP0004233_abnormal_muscle_weight0.64025047
95MP0004484_altered_response_of0.63852439
96MP0005167_abnormal_blood-brain_barrier0.60611490
97MP0005623_abnormal_meninges_morphology0.60133807
98MP0005166_decreased_susceptibility_to0.59817533
99MP0001986_abnormal_taste_sensitivity0.58442524
100MP0003183_abnormal_peptide_metabolism0.57982943
101MP0003123_paternal_imprinting0.57260460
102MP0001943_abnormal_respiration0.56969067
103MP0003172_abnormal_lysosome_physiology0.55640673
104MP0010768_mortality/aging0.54551374
105MP0008877_abnormal_DNA_methylation0.53583976
106MP0003956_abnormal_body_size0.53202020
107MP0003137_abnormal_impulse_conducting0.52555252
108MP0002873_normal_phenotype0.52227747
109MP0010769_abnormal_survival0.51359685
110MP0001485_abnormal_pinna_reflex0.51166423
111MP0002082_postnatal_lethality0.51083091
112MP0010770_preweaning_lethality0.51083091
113MP0003121_genomic_imprinting0.50982458
114MP0001299_abnormal_eye_distance/0.50897466
115MP0002169_no_abnormal_phenotype0.50677664
116MP0003861_abnormal_nervous_system0.45710247
117MP0001731_abnormal_postnatal_growth0.44915929
118MP0002249_abnormal_larynx_morphology0.42593861
119MP0002083_premature_death0.41705477

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.75819857
2Myokymia (HP:0002411)6.85655432
3Focal seizures (HP:0007359)5.81367477
4Visual hallucinations (HP:0002367)5.52272134
5Atonic seizures (HP:0010819)5.23730951
6Epileptic encephalopathy (HP:0200134)5.02284309
7Febrile seizures (HP:0002373)4.73273299
8Absence seizures (HP:0002121)4.42129668
9Progressive cerebellar ataxia (HP:0002073)4.29463767
10Generalized tonic-clonic seizures (HP:0002069)4.05676590
11Dialeptic seizures (HP:0011146)4.00439041
12Action tremor (HP:0002345)3.78347618
13Cerebral hypomyelination (HP:0006808)3.77858401
14Supranuclear gaze palsy (HP:0000605)3.75014242
15Ankle clonus (HP:0011448)3.64166637
16Tetraplegia (HP:0002445)3.63708229
17Obstructive sleep apnea (HP:0002870)3.55423410
18Depression (HP:0000716)3.35934557
19Broad-based gait (HP:0002136)3.34917221
20Impaired vibration sensation in the lower limbs (HP:0002166)3.33963126
21Abnormal eating behavior (HP:0100738)3.30926560
22Poor eye contact (HP:0000817)3.25302785
23Hyperventilation (HP:0002883)3.17919148
24Gaze-evoked nystagmus (HP:0000640)3.16321064
25Anxiety (HP:0000739)3.12143570
26Dysdiadochokinesis (HP:0002075)3.08343205
27Urinary bladder sphincter dysfunction (HP:0002839)3.06511619
28Mutism (HP:0002300)3.02173260
29Truncal ataxia (HP:0002078)3.01734683
30Amblyopia (HP:0000646)3.01443071
31Papilledema (HP:0001085)2.99815072
32Impaired social interactions (HP:0000735)2.97442929
33Abnormal social behavior (HP:0012433)2.97442929
34Postural instability (HP:0002172)2.97091964
35Pheochromocytoma (HP:0002666)2.91148773
36Dysmetria (HP:0001310)2.90376772
37Akinesia (HP:0002304)2.89982369
38Progressive inability to walk (HP:0002505)2.86253687
39Apathy (HP:0000741)2.78286511
40Peripheral hypomyelination (HP:0007182)2.78010333
41Limb dystonia (HP:0002451)2.74929185
42Urinary urgency (HP:0000012)2.71508271
43Abnormality of the lower motor neuron (HP:0002366)2.70733675
44Torticollis (HP:0000473)2.61326230
45Polyphagia (HP:0002591)2.60638327
46Spastic gait (HP:0002064)2.59919221
47Bradykinesia (HP:0002067)2.59109136
48Neuroendocrine neoplasm (HP:0100634)2.55669044
49Epileptiform EEG discharges (HP:0011182)2.54770918
50Impaired smooth pursuit (HP:0007772)2.53840600
51Excessive salivation (HP:0003781)2.52245428
52Drooling (HP:0002307)2.52245428
53Genetic anticipation (HP:0003743)2.51846818
54Diminished motivation (HP:0000745)2.50012775
55Hemiparesis (HP:0001269)2.47180408
56Focal dystonia (HP:0004373)2.46863905
57EEG with generalized epileptiform discharges (HP:0011198)2.45416537
58Abnormality of binocular vision (HP:0011514)2.45074835
59Diplopia (HP:0000651)2.45074835
60Ventricular fibrillation (HP:0001663)2.44767831
61Insidious onset (HP:0003587)2.44549016
62Termporal pattern (HP:0011008)2.44549016
63Scanning speech (HP:0002168)2.41107166
64Sleep apnea (HP:0010535)2.40447904
65Lower limb amyotrophy (HP:0007210)2.39790555
66Choreoathetosis (HP:0001266)2.38687349
67Cerebral inclusion bodies (HP:0100314)2.38216127
68Failure to thrive in infancy (HP:0001531)2.35293616
69Hypsarrhythmia (HP:0002521)2.33681263
70Neurofibrillary tangles (HP:0002185)2.32695519
71Hemiplegia (HP:0002301)2.31834598
72Status epilepticus (HP:0002133)2.30521195
73Spastic tetraparesis (HP:0001285)2.29407613
74Agitation (HP:0000713)2.28756292
75Inability to walk (HP:0002540)2.26825457
76Fetal akinesia sequence (HP:0001989)2.24725738
77CNS hypomyelination (HP:0003429)2.23330296
78Impaired vibratory sensation (HP:0002495)2.22877600
79Intention tremor (HP:0002080)2.22573193
80Craniofacial dystonia (HP:0012179)2.21591198
81Abnormality of ocular smooth pursuit (HP:0000617)2.21548759
82Lower limb muscle weakness (HP:0007340)2.20624626
83Stereotypic behavior (HP:0000733)2.18416535
84Dysmetric saccades (HP:0000641)2.18252599
85Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.15569176
86Generalized myoclonic seizures (HP:0002123)2.14504873
87Abnormality of the corticospinal tract (HP:0002492)2.13954578
88Absent speech (HP:0001344)2.12683981
89Hypoventilation (HP:0002791)2.09739862
90Lower limb asymmetry (HP:0100559)2.09345741
91Spinal canal stenosis (HP:0003416)2.08802293
92Pointed chin (HP:0000307)2.06045102
93Upper limb amyotrophy (HP:0009129)2.04948954
94Distal upper limb amyotrophy (HP:0007149)2.04948954
95Delusions (HP:0000746)2.03651314
96Megalencephaly (HP:0001355)2.02057079
97Gait ataxia (HP:0002066)2.00093852
98Aplasia involving bones of the extremities (HP:0009825)2.00071462
99Aplasia involving bones of the upper limbs (HP:0009823)2.00071462
100Aplasia of the phalanges of the hand (HP:0009802)2.00071462
101Resting tremor (HP:0002322)1.97676697
102Psychosis (HP:0000709)1.95228346
103Neuronal loss in central nervous system (HP:0002529)1.94700437
104Split foot (HP:0001839)1.94196913
105Morphological abnormality of the pyramidal tract (HP:0002062)1.93566246
106Annular pancreas (HP:0001734)1.93498992
107Clonus (HP:0002169)1.92129131
108Blue irides (HP:0000635)1.92121122
109Neoplasm of the peripheral nervous system (HP:0100007)1.91571470
110Slow saccadic eye movements (HP:0000514)1.91199703
111Hand muscle atrophy (HP:0009130)1.91131610
112Rigidity (HP:0002063)1.90964512
113Dementia (HP:0000726)1.90253478
114Specific learning disability (HP:0001328)1.90123868
115Incomplete penetrance (HP:0003829)1.89765081
116Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.86288799
117Degeneration of the lateral corticospinal tracts (HP:0002314)1.86288799
118Gait imbalance (HP:0002141)1.86135637
119Memory impairment (HP:0002354)1.82407403
120Amyotrophic lateral sclerosis (HP:0007354)1.81539401
121Insomnia (HP:0100785)1.81513318
122Abnormality of pain sensation (HP:0010832)1.79057446
123Impaired pain sensation (HP:0007328)1.79057446
124Hypercortisolism (HP:0001578)1.78784309
125Rapidly progressive (HP:0003678)1.78444991
126Abnormality of saccadic eye movements (HP:0000570)1.78141039
127Bundle branch block (HP:0011710)1.77981710
128Postural tremor (HP:0002174)1.77360144
129Unsteady gait (HP:0002317)1.75892320
130Distal sensory impairment (HP:0002936)1.74817304
131Hyperacusis (HP:0010780)1.74546003
132Heart block (HP:0012722)1.74012777

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.36334407
2MAP3K93.96199573
3EPHA43.76225214
4MAP3K43.25359811
5MAP2K72.83715249
6MARK12.82959103
7MINK12.80717877
8DAPK22.78845269
9MAP3K122.76942244
10CASK2.34307152
11PAK62.26430315
12MAP2K42.14476399
13KSR22.09596181
14NTRK11.94517227
15NTRK21.93131113
16PRKD31.91656122
17DAPK11.77984069
18CAMKK11.75118320
19CDK191.69569688
20RIPK41.69566352
21ARAF1.68140922
22GRK51.64097534
23PLK21.61786925
24RIPK11.55537368
25CDK51.54662605
26KSR11.40912524
27PNCK1.30724972
28PRKCG1.26817444
29MAPK131.25720683
30UHMK11.24736707
31STK381.23203350
32TNIK1.18637360
33MAP3K21.16985710
34MAP3K111.16022027
35PRPF4B1.14537576
36FES1.11064266
37SIK21.10980749
38CAMKK21.09982056
39MAP3K131.05668570
40LATS21.03242503
41PHKG10.97282686
42PHKG20.97282686
43CAMK2A0.95788783
44TYRO30.94180515
45SGK4940.94030342
46SGK2230.94030342
47CDK180.93591644
48CDK150.91139096
49CDK140.91090561
50MAPK120.90281130
51CAMK10.88610658
52TAOK10.87630151
53LMTK20.87406383
54PRKCH0.84687031
55OXSR10.84439781
56RET0.84194250
57TESK10.83781185
58STK110.80546261
59CDK11A0.79098498
60CCNB10.78854794
61PINK10.78627858
62PAK30.76792592
63SGK20.74442307
64RAF10.73803035
65LIMK10.73720663
66MAP3K10.71378478
67TNK20.71328746
68CAMK2B0.69812343
69PTK2B0.68577635
70PKN10.67418390
71NEK10.65611059
72CSNK1G20.64447505
73ALK0.63966421
74DYRK1A0.63539794
75SGK30.62251619
76BMPR20.59719645
77PDK10.59304331
78SGK10.58560293
79NME10.56806000
80PDPK10.55801999
81PRKCE0.55060171
82DAPK30.54500209
83AKT30.54184057
84FER0.52986418
85TAOK20.52905930
86SCYL20.52660735
87BRAF0.51279614
88MARK20.50440555
89PRKG20.48497564
90CAMK2G0.47468027
91BMX0.47312131
92WNK30.46943575
93PRKCZ0.46707953
94MAP2K10.46422062
95CDC42BPA0.45742643
96ROCK20.44675365
97BRSK10.44378652
98CAMK2D0.43811395
99* RPS6KA30.42132426
100WNK10.41868987
101IRAK20.39351024
102MAPK100.38510441
103CAMK40.38433740
104RPS6KA20.37462334
105FYN0.37144902
106CAMK1G0.36816484
107TRIB30.34734849
108SIK30.34548108
109MAPKAPK50.32877223
110PDK30.32572307
111PDK40.32572307
112NEK60.32537355
113PRKCA0.32455143
114PAK10.31556387
115ROCK10.26387349
116MAP2K60.25814722
117MAPK80.25321461
118SRC0.23848228
119PRKCB0.22623700

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.89822208
2Nicotine addiction_Homo sapiens_hsa050333.73719712
3GABAergic synapse_Homo sapiens_hsa047272.78279323
4Olfactory transduction_Homo sapiens_hsa047402.74089672
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.66296421
6Circadian entrainment_Homo sapiens_hsa047132.61277200
7Long-term potentiation_Homo sapiens_hsa047202.54746320
8Morphine addiction_Homo sapiens_hsa050322.47816906
9Glutamatergic synapse_Homo sapiens_hsa047242.42748014
10Amphetamine addiction_Homo sapiens_hsa050312.42378752
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.34466766
12Dopaminergic synapse_Homo sapiens_hsa047282.16817643
13Insulin secretion_Homo sapiens_hsa049112.12833073
14Salivary secretion_Homo sapiens_hsa049702.09342824
15Collecting duct acid secretion_Homo sapiens_hsa049662.07284403
16Vitamin B6 metabolism_Homo sapiens_hsa007501.94296610
17Gastric acid secretion_Homo sapiens_hsa049711.85325497
18Cholinergic synapse_Homo sapiens_hsa047251.84263295
19Taste transduction_Homo sapiens_hsa047421.81683335
20Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.74996088
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.72743021
22Serotonergic synapse_Homo sapiens_hsa047261.65622157
23Long-term depression_Homo sapiens_hsa047301.65174391
24Cocaine addiction_Homo sapiens_hsa050301.63372396
25Renin secretion_Homo sapiens_hsa049241.63178413
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.62766540
27Oxytocin signaling pathway_Homo sapiens_hsa049211.56738108
28Calcium signaling pathway_Homo sapiens_hsa040201.49555907
29GnRH signaling pathway_Homo sapiens_hsa049121.38637038
30Vibrio cholerae infection_Homo sapiens_hsa051101.37397432
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.31886234
32Gap junction_Homo sapiens_hsa045401.31596366
33Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.27305582
34Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.23246716
35cAMP signaling pathway_Homo sapiens_hsa040241.16337342
36Type II diabetes mellitus_Homo sapiens_hsa049301.16013223
37Estrogen signaling pathway_Homo sapiens_hsa049151.10983445
38Cardiac muscle contraction_Homo sapiens_hsa042601.08791528
39Phosphatidylinositol signaling system_Homo sapiens_hsa040701.07708447
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.06474901
41Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.05286781
42Glioma_Homo sapiens_hsa052141.05138538
43Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.98722825
44ErbB signaling pathway_Homo sapiens_hsa040120.96424471
45Melanogenesis_Homo sapiens_hsa049160.95474382
46Axon guidance_Homo sapiens_hsa043600.93214508
47cGMP-PKG signaling pathway_Homo sapiens_hsa040220.92624196
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.86431441
49Oocyte meiosis_Homo sapiens_hsa041140.84862220
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.81525054
51Pancreatic secretion_Homo sapiens_hsa049720.78817681
52Nitrogen metabolism_Homo sapiens_hsa009100.78756455
53Dorso-ventral axis formation_Homo sapiens_hsa043200.78237412
54Type I diabetes mellitus_Homo sapiens_hsa049400.76066997
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.74484079
56Thyroid hormone synthesis_Homo sapiens_hsa049180.74159661
57Phototransduction_Homo sapiens_hsa047440.72187875
58Phospholipase D signaling pathway_Homo sapiens_hsa040720.71837124
59Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.69923541
60MAPK signaling pathway_Homo sapiens_hsa040100.65186212
61Oxidative phosphorylation_Homo sapiens_hsa001900.64289447
62Dilated cardiomyopathy_Homo sapiens_hsa054140.62898368
63Alzheimers disease_Homo sapiens_hsa050100.62338583
64Neurotrophin signaling pathway_Homo sapiens_hsa047220.62282125
65Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.60995838
66Carbohydrate digestion and absorption_Homo sapiens_hsa049730.60067577
67Glucagon signaling pathway_Homo sapiens_hsa049220.59889170
68Choline metabolism in cancer_Homo sapiens_hsa052310.58286407
69Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.57098890
70SNARE interactions in vesicular transport_Homo sapiens_hsa041300.56971750
71Arginine and proline metabolism_Homo sapiens_hsa003300.55817974
72Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.51989655
73Ras signaling pathway_Homo sapiens_hsa040140.51363857
74VEGF signaling pathway_Homo sapiens_hsa043700.50887138
75Alcoholism_Homo sapiens_hsa050340.50646551
76Endocytosis_Homo sapiens_hsa041440.48264478
77Inositol phosphate metabolism_Homo sapiens_hsa005620.46439575
78Parkinsons disease_Homo sapiens_hsa050120.45753974
79Prion diseases_Homo sapiens_hsa050200.45517340
80Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.44991094
81Sphingolipid signaling pathway_Homo sapiens_hsa040710.44971973
82Rap1 signaling pathway_Homo sapiens_hsa040150.44277903
83Thyroid hormone signaling pathway_Homo sapiens_hsa049190.43971464
84Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.43637349
85Arginine biosynthesis_Homo sapiens_hsa002200.43573247
86mTOR signaling pathway_Homo sapiens_hsa041500.42844466
87Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.42151186
88Bile secretion_Homo sapiens_hsa049760.42068002
89Circadian rhythm_Homo sapiens_hsa047100.41957312
90Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.41133885
91Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.40384046
922-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.40128169
93Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.40101728
94Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.37531447
95Rheumatoid arthritis_Homo sapiens_hsa053230.37501628
96Endometrial cancer_Homo sapiens_hsa052130.37192892
97Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.35709399
98* Insulin signaling pathway_Homo sapiens_hsa049100.34964700
99Renal cell carcinoma_Homo sapiens_hsa052110.33317364
100Non-small cell lung cancer_Homo sapiens_hsa052230.31395666
101HIF-1 signaling pathway_Homo sapiens_hsa040660.30771558
102Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.30720599
103Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.29917917
104Wnt signaling pathway_Homo sapiens_hsa043100.29565096
105Longevity regulating pathway - mammal_Homo sapiens_hsa042110.28471609
106Ovarian steroidogenesis_Homo sapiens_hsa049130.27962740
107Phagosome_Homo sapiens_hsa041450.27399585
108AMPK signaling pathway_Homo sapiens_hsa041520.25776082
109Platelet activation_Homo sapiens_hsa046110.21595351
110Tight junction_Homo sapiens_hsa045300.21359108
111Central carbon metabolism in cancer_Homo sapiens_hsa052300.19526831
112Fatty acid biosynthesis_Homo sapiens_hsa000610.18474476
113Mineral absorption_Homo sapiens_hsa049780.15708405
114Biosynthesis of amino acids_Homo sapiens_hsa012300.15266771

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