PLCB1

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 catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms 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)5.74628390
2positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.72680696
3vocalization behavior (GO:0071625)5.54879117
4locomotory exploration behavior (GO:0035641)5.40546194
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.36606249
6synaptic vesicle exocytosis (GO:0016079)5.27051186
7regulation of glutamate receptor signaling pathway (GO:1900449)5.08287734
8synaptic vesicle maturation (GO:0016188)5.07797521
9glutamate secretion (GO:0014047)4.96974821
10ionotropic glutamate receptor signaling pathway (GO:0035235)4.86380222
11protein localization to synapse (GO:0035418)4.77134843
12neuron cell-cell adhesion (GO:0007158)4.69166394
13regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.66153786
14regulation of synaptic vesicle exocytosis (GO:2000300)4.64490187
15synaptic vesicle docking involved in exocytosis (GO:0016081)4.64114100
16neurotransmitter-gated ion channel clustering (GO:0072578)4.63571649
17regulation of long-term neuronal synaptic plasticity (GO:0048169)4.56676922
18neuronal action potential propagation (GO:0019227)4.48602603
19* positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.46806028
20regulation of neuronal synaptic plasticity (GO:0048168)4.39137354
21exploration behavior (GO:0035640)4.38236573
22* glutamate receptor signaling pathway (GO:0007215)4.35019043
23synaptic transmission, glutamatergic (GO:0035249)4.30507559
24regulation of synapse structural plasticity (GO:0051823)4.29905724
25neuron-neuron synaptic transmission (GO:0007270)4.27898461
26regulation of synaptic vesicle transport (GO:1902803)4.18641799
27neurotransmitter secretion (GO:0007269)4.16710180
28sodium ion export (GO:0071436)4.13592839
29L-amino acid import (GO:0043092)4.06490137
30regulation of excitatory postsynaptic membrane potential (GO:0060079)4.03227985
31membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.94037498
32regulation of dendritic spine morphogenesis (GO:0061001)3.92478731
33dendritic spine morphogenesis (GO:0060997)3.90099133
34long-term memory (GO:0007616)3.87302551
35positive regulation of membrane potential (GO:0045838)3.85434059
36cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.81301165
37regulation of postsynaptic membrane potential (GO:0060078)3.81123971
38layer formation in cerebral cortex (GO:0021819)3.78499620
39gamma-aminobutyric acid transport (GO:0015812)3.77649887
40neuron recognition (GO:0008038)3.75103577
41regulation of synaptic plasticity (GO:0048167)3.73054608
42positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.72158690
43long-term synaptic potentiation (GO:0060291)3.72131527
44positive regulation of synapse maturation (GO:0090129)3.70507439
45negative regulation of synaptic transmission, GABAergic (GO:0032229)3.68307282
46regulation of synaptic transmission, glutamatergic (GO:0051966)3.67849397
47presynaptic membrane assembly (GO:0097105)3.67657140
48gamma-aminobutyric acid signaling pathway (GO:0007214)3.66492465
49cellular sodium ion homeostasis (GO:0006883)3.62068809
50regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.56782900
51axon ensheathment in central nervous system (GO:0032291)3.55824836
52central nervous system myelination (GO:0022010)3.55824836
53positive regulation of neurotransmitter secretion (GO:0001956)3.55513202
54cerebellar granule cell differentiation (GO:0021707)3.54076680
55response to histamine (GO:0034776)3.52976898
56G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.52810597
57postsynaptic membrane organization (GO:0001941)3.51289425
58transmission of nerve impulse (GO:0019226)3.48337044
59auditory behavior (GO:0031223)3.40646590
60positive regulation of neurotransmitter transport (GO:0051590)3.40588927
61negative regulation of dendrite morphogenesis (GO:0050774)3.39586695
62axonal fasciculation (GO:0007413)3.39042220
63amino acid import (GO:0043090)3.38058782
64potassium ion import (GO:0010107)3.35594739
65regulation of dendritic spine development (GO:0060998)3.35176924
66behavioral defense response (GO:0002209)3.35078666
67behavioral fear response (GO:0001662)3.35078666
68presynaptic membrane organization (GO:0097090)3.34916606
69neurotransmitter transport (GO:0006836)3.33402203
70behavioral response to cocaine (GO:0048148)3.33370311
71proline transport (GO:0015824)3.33183042
72cellular potassium ion homeostasis (GO:0030007)3.30558520
73prepulse inhibition (GO:0060134)3.30399365
74activation of protein kinase A activity (GO:0034199)3.26435751
75regulation of neurotransmitter secretion (GO:0046928)3.25866554
76regulation of vesicle fusion (GO:0031338)3.25856999
77C4-dicarboxylate transport (GO:0015740)3.24268798
78neuromuscular process controlling balance (GO:0050885)3.23314745
79positive regulation of synaptic transmission, GABAergic (GO:0032230)3.22810767
80synaptic vesicle endocytosis (GO:0048488)3.21249493
81membrane depolarization (GO:0051899)3.19857825
82response to auditory stimulus (GO:0010996)3.19765294
83serotonin metabolic process (GO:0042428)3.18976569
84striatum development (GO:0021756)3.15658503
85regulation of neurotransmitter levels (GO:0001505)3.15585710
86learning (GO:0007612)3.15401398
87long term synaptic depression (GO:0060292)3.15210965
88negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.14577662
89cell communication by electrical coupling (GO:0010644)3.14125605
90detection of calcium ion (GO:0005513)3.13463846
91potassium ion homeostasis (GO:0055075)3.13273676
92fear response (GO:0042596)3.13132971
93regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.12341754
94positive regulation of dendritic spine morphogenesis (GO:0061003)3.11121404
95regulation of glutamate secretion (GO:0014048)3.08913810
96regulation of neurotransmitter transport (GO:0051588)3.08265849
97positive regulation of dendritic spine development (GO:0060999)3.08061174
98positive regulation of synaptic transmission (GO:0050806)3.07952156
99dendritic spine organization (GO:0097061)3.07783756
100startle response (GO:0001964)3.07687903
101synaptic transmission, dopaminergic (GO:0001963)3.03198599
102synapse assembly (GO:0007416)3.02498943
103regulation of female receptivity (GO:0045924)3.02303508
104membrane hyperpolarization (GO:0060081)3.00595926
105dendrite morphogenesis (GO:0048813)3.00447703
106regulation of synaptic transmission (GO:0050804)3.00108680
107negative regulation of dendrite development (GO:2000171)2.98246909
108membrane depolarization during action potential (GO:0086010)2.96511564
109positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.95941937
110* synaptic transmission (GO:0007268)2.95694709
111primary amino compound metabolic process (GO:1901160)2.95067645
112regulation of synapse maturation (GO:0090128)2.94727938
113cell communication involved in cardiac conduction (GO:0086065)2.94620674
114regulation of voltage-gated calcium channel activity (GO:1901385)2.94383998
115mechanosensory behavior (GO:0007638)2.93960030
116regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.91719816
117cerebellar Purkinje cell differentiation (GO:0021702)2.91269845
118innervation (GO:0060384)2.91235427
119neuronal ion channel clustering (GO:0045161)2.89581805
120regulation of sodium ion transmembrane transporter activity (GO:2000649)2.88547259
121regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.87560628
122central nervous system projection neuron axonogenesis (GO:0021952)2.86746919
123neurotransmitter uptake (GO:0001504)2.85153129
124cochlea development (GO:0090102)2.81345838
125neuromuscular synaptic transmission (GO:0007274)2.75616270
126regulation of dendrite morphogenesis (GO:0048814)2.74507096
127adult walking behavior (GO:0007628)2.70429791
128positive regulation of dendrite development (GO:1900006)2.69873719

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.92984559
2GBX2_23144817_ChIP-Seq_PC3_Human4.03447739
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.15512958
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.07769614
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.06010783
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.67968470
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.67968470
8* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.65974688
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.59168255
10REST_21632747_ChIP-Seq_MESCs_Mouse2.53229123
11RARB_27405468_Chip-Seq_BRAIN_Mouse2.53013887
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.52501936
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.50360257
14EZH2_27304074_Chip-Seq_ESCs_Mouse2.49705398
15* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.46016984
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.40738315
17DROSHA_22980978_ChIP-Seq_HELA_Human2.35255440
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.32113146
19RNF2_27304074_Chip-Seq_ESCs_Mouse2.14611916
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.13168077
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.09996454
22TAF15_26573619_Chip-Seq_HEK293_Human2.02559470
23AR_21572438_ChIP-Seq_LNCaP_Human1.99922243
24REST_18959480_ChIP-ChIP_MESCs_Mouse1.99206371
25CTBP2_25329375_ChIP-Seq_LNCAP_Human1.94880742
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.94050185
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.92253052
28IKZF1_21737484_ChIP-ChIP_HCT116_Human1.89558592
29CTBP1_25329375_ChIP-Seq_LNCAP_Human1.83570153
30* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.77411528
31* SMAD4_21799915_ChIP-Seq_A2780_Human1.77076995
32* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.68646016
33CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.68266053
34MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.67101237
35NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.66375924
36GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.65477448
37P300_19829295_ChIP-Seq_ESCs_Human1.59181502
38PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.58114235
39TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.48626064
40EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.45386981
41SMAD_19615063_ChIP-ChIP_OVARY_Human1.45291478
42MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.43735279
43* SMAD3_21741376_ChIP-Seq_EPCs_Human1.43616280
44* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.42844201
45CTNNB1_20460455_ChIP-Seq_HCT116_Human1.42427737
46PIAS1_25552417_ChIP-Seq_VCAP_Human1.39150616
47ERG_21242973_ChIP-ChIP_JURKAT_Human1.37885692
48NR3C1_23031785_ChIP-Seq_PC12_Mouse1.37012049
49* AR_25329375_ChIP-Seq_VCAP_Human1.36093498
50PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.36010345
51* SOX2_21211035_ChIP-Seq_LN229_Gbm1.33643237
52TOP2B_26459242_ChIP-Seq_MCF-7_Human1.32187001
53RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.31643733
54CBX2_27304074_Chip-Seq_ESCs_Mouse1.30234672
55STAT3_23295773_ChIP-Seq_U87_Human1.29617653
56SALL1_21062744_ChIP-ChIP_HESCs_Human1.29269703
57* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.28998200
58POU3F2_20337985_ChIP-ChIP_501MEL_Human1.26437012
59* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.25326582
60RING1B_27294783_Chip-Seq_ESCs_Mouse1.23148559
61EP300_21415370_ChIP-Seq_HL-1_Mouse1.23105160
62TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22271974
63RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.22214745
64* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.22177141
65FUS_26573619_Chip-Seq_HEK293_Human1.19823829
66FLI1_27457419_Chip-Seq_LIVER_Mouse1.19675104
67BMI1_23680149_ChIP-Seq_NPCS_Mouse1.19638856
68AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.18309163
69AR_19668381_ChIP-Seq_PC3_Human1.18157762
70HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.17731318
71* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.16649443
72CDX2_19796622_ChIP-Seq_MESCs_Mouse1.15853241
73* TCF4_23295773_ChIP-Seq_U87_Human1.14463512
74IGF1R_20145208_ChIP-Seq_DFB_Human1.14027684
75ARNT_22903824_ChIP-Seq_MCF-7_Human1.13582612
76UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.12414096
77TP53_16413492_ChIP-PET_HCT116_Human1.12014217
78* FOXA2_19822575_ChIP-Seq_HepG2_Human1.11758660
79WT1_25993318_ChIP-Seq_PODOCYTE_Human1.11188162
80LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10872676
81P53_22127205_ChIP-Seq_FIBROBLAST_Human1.10819304
82* ZNF274_21170338_ChIP-Seq_K562_Hela1.09695561
83YAP1_20516196_ChIP-Seq_MESCs_Mouse1.07946400
84* KDM2B_26808549_Chip-Seq_REH_Human1.07453826
85RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.07420635
86RNF2_27304074_Chip-Seq_NSC_Mouse1.07417193
87* PRDM14_20953172_ChIP-Seq_ESCs_Human1.07275542
88AHR_22903824_ChIP-Seq_MCF-7_Human1.06844264
89CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.06699535
90CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.06577724
91NR3C1_21868756_ChIP-Seq_MCF10A_Human1.06573469
92* RUNX2_22187159_ChIP-Seq_PCA_Human1.06568436
93MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.05096339
94CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04741168
95RING1B_27294783_Chip-Seq_NPCs_Mouse1.04223977
96PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.03917239
97FLI1_21867929_ChIP-Seq_TH2_Mouse1.03467194
98ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.02822736
99PCGF2_27294783_Chip-Seq_ESCs_Mouse1.02530963
100TP53_18474530_ChIP-ChIP_U2OS_Human1.01219447
101* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.00940785
102TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00093509
103POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.00093509
104BCAT_22108803_ChIP-Seq_LS180_Human0.99329993
105JUN_21703547_ChIP-Seq_K562_Human0.97820445
106* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.95620321
107RXR_22108803_ChIP-Seq_LS180_Human0.94848737
108DNAJC2_21179169_ChIP-ChIP_NT2_Human0.94669624
109VDR_22108803_ChIP-Seq_LS180_Human0.94564187
110* NANOG_18555785_Chip-Seq_ESCs_Mouse0.94176299
111* SMAD3_21741376_ChIP-Seq_HESCs_Human0.93560951
112WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.92957313
113ER_23166858_ChIP-Seq_MCF-7_Human0.92468085
114SMAD3_21741376_ChIP-Seq_ESCs_Human0.91356080
115BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.91223464
116SMAD4_21741376_ChIP-Seq_HESCs_Human0.91093950
117* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.90746779

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.64051246
2MP0003880_abnormal_central_pattern5.13155602
3* MP0003635_abnormal_synaptic_transmissio4.27902877
4MP0004270_analgesia3.72714693
5MP0002822_catalepsy3.59771982
6* MP0009745_abnormal_behavioral_response3.58874401
7* MP0002063_abnormal_learning/memory/cond3.52979383
8* MP0002064_seizures3.15792697
9MP0009046_muscle_twitch3.03907930
10MP0001968_abnormal_touch/_nociception3.02565536
11MP0002572_abnormal_emotion/affect_behav2.97711638
12* MP0001486_abnormal_startle_reflex2.63389063
13MP0002272_abnormal_nervous_system2.59810751
14MP0002734_abnormal_mechanical_nocicepti2.48504795
15MP0001501_abnormal_sleep_pattern2.43688786
16MP0002736_abnormal_nociception_after2.39005104
17MP0005423_abnormal_somatic_nervous2.34444740
18MP0001440_abnormal_grooming_behavior2.22689348
19MP0002735_abnormal_chemical_nociception2.09487135
20MP0009780_abnormal_chondrocyte_physiolo2.07530799
21MP0002067_abnormal_sensory_capabilities1.93741232
22MP0005646_abnormal_pituitary_gland1.92375217
23MP0002733_abnormal_thermal_nociception1.88822311
24MP0001970_abnormal_pain_threshold1.86219315
25MP0004924_abnormal_behavior1.84214123
26MP0005386_behavior/neurological_phenoty1.84214123
27MP0002557_abnormal_social/conspecific_i1.79345777
28MP0003329_amyloid_beta_deposits1.78932693
29MP0000778_abnormal_nervous_system1.76734745
30MP0001529_abnormal_vocalization1.75410260
31MP0002909_abnormal_adrenal_gland1.72527036
32MP0002184_abnormal_innervation1.70059122
33MP0001984_abnormal_olfaction1.67244097
34MP0003879_abnormal_hair_cell1.65077867
35MP0004811_abnormal_neuron_physiology1.62070387
36* MP0008569_lethality_at_weaning1.57099573
37MP0001188_hyperpigmentation1.48743853
38MP0004858_abnormal_nervous_system1.46460674
39MP0003123_paternal_imprinting1.44446371
40MP0006276_abnormal_autonomic_nervous1.41532116
41MP0000955_abnormal_spinal_cord1.40156316
42* MP0002066_abnormal_motor_capabilities/c1.37242593
43MP0003633_abnormal_nervous_system1.34853612
44MP0003787_abnormal_imprinting1.33933451
45MP0002882_abnormal_neuron_morphology1.31535724
46MP0001905_abnormal_dopamine_level1.31195888
47MP0003195_calcinosis1.28515732
48MP0003121_genomic_imprinting1.27170528
49MP0001502_abnormal_circadian_rhythm1.25016014
50MP0004885_abnormal_endolymph1.23658101
51MP0008877_abnormal_DNA_methylation1.19079835
52MP0005645_abnormal_hypothalamus_physiol1.14333665
53MP0003631_nervous_system_phenotype1.12520884
54MP0005409_darkened_coat_color1.12059192
55MP0002837_dystrophic_cardiac_calcinosis1.10485844
56MP0004142_abnormal_muscle_tone1.08471943
57MP0008872_abnormal_physiological_respon1.07301938
58MP0008874_decreased_physiological_sensi1.04438813
59* MP0002152_abnormal_brain_morphology1.03846422
60MP0000013_abnormal_adipose_tissue0.98214187
61MP0000566_synostosis0.97910331
62MP0002069_abnormal_eating/drinking_beha0.95119028
63MP0001177_atelectasis0.94825103
64MP0004085_abnormal_heartbeat0.93052956
65MP0000751_myopathy0.91855189
66MP0005535_abnormal_body_temperature0.91101168
67MP0004145_abnormal_muscle_electrophysio0.89496475
68MP0002876_abnormal_thyroid_physiology0.89458232
69MP0003868_abnormal_feces_composition0.88735690
70MP0003690_abnormal_glial_cell0.88660301
71MP0003075_altered_response_to0.88068131
72MP0004484_altered_response_of0.84654801
73MP0010386_abnormal_urinary_bladder0.83894723
74MP0004742_abnormal_vestibular_system0.83681475
75MP0005551_abnormal_eye_electrophysiolog0.82500957
76MP0002229_neurodegeneration0.81318256
77MP0005187_abnormal_penis_morphology0.81291402
78MP0004215_abnormal_myocardial_fiber0.78800956
79MP0003122_maternal_imprinting0.78443137
80MP0000631_abnormal_neuroendocrine_gland0.78404058
81MP0001963_abnormal_hearing_physiology0.78097401
82MP0000604_amyloidosis0.77595675
83MP0000569_abnormal_digit_pigmentation0.77303691
84MP0005167_abnormal_blood-brain_barrier0.75076557
85MP0003890_abnormal_embryonic-extraembry0.74570721
86MP0001299_abnormal_eye_distance/0.71333045
87MP0003632_abnormal_nervous_system0.71260215
88MP0003634_abnormal_glial_cell0.70962504
89MP0005499_abnormal_olfactory_system0.69334499
90MP0005394_taste/olfaction_phenotype0.69334499
91MP0005171_absent_coat_pigmentation0.68521436
92MP0008961_abnormal_basal_metabolism0.68444095
93MP0001664_abnormal_digestion0.68055078
94MP0001485_abnormal_pinna_reflex0.66492421
95MP0002090_abnormal_vision0.65901281
96MP0002752_abnormal_somatic_nervous0.65336505
97MP0000639_abnormal_adrenal_gland0.65308455
98MP0010329_abnormal_lipoprotein_level0.65048546
99MP0000920_abnormal_myelination0.62505470
100MP0001346_abnormal_lacrimal_gland0.60495850
101MP0004233_abnormal_muscle_weight0.60369725
102MP0003137_abnormal_impulse_conducting0.60146167
103MP0004147_increased_porphyrin_level0.60045151
104MP0001986_abnormal_taste_sensitivity0.59640356
105MP0003183_abnormal_peptide_metabolism0.57825929
106* MP0002082_postnatal_lethality0.54876947
107* MP0010770_preweaning_lethality0.54876947
108* MP0010769_abnormal_survival0.53627319
109MP0001765_abnormal_ion_homeostasis0.52740049
110MP0002089_abnormal_postnatal_growth/wei0.52326291
111MP0001943_abnormal_respiration0.52309265
112MP0004043_abnormal_pH_regulation0.50171583
113MP0004134_abnormal_chest_morphology0.50046559
114MP0002638_abnormal_pupillary_reflex0.49738556
115* MP0010768_mortality/aging0.49588203
116MP0010234_abnormal_vibrissa_follicle0.49403374
117MP0004130_abnormal_muscle_cell0.48864133
118MP0003283_abnormal_digestive_organ0.48614265
119MP0005595_abnormal_vascular_smooth0.46857255
120MP0005620_abnormal_muscle_contractility0.46851970
121MP0003861_abnormal_nervous_system0.46772370

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.64672599
2Myokymia (HP:0002411)6.90763871
3* Focal seizures (HP:0007359)5.71144652
4Epileptic encephalopathy (HP:0200134)5.51684356
5Atonic seizures (HP:0010819)4.96436865
6Visual hallucinations (HP:0002367)4.95794167
7Febrile seizures (HP:0002373)4.82364189
8Hyperventilation (HP:0002883)4.51702198
9Absence seizures (HP:0002121)4.32549842
10Progressive cerebellar ataxia (HP:0002073)4.21504265
11Generalized tonic-clonic seizures (HP:0002069)4.06613908
12Dialeptic seizures (HP:0011146)4.02149788
13Broad-based gait (HP:0002136)3.97117371
14Poor eye contact (HP:0000817)3.80195238
15Action tremor (HP:0002345)3.55655934
16Gaze-evoked nystagmus (HP:0000640)3.49472234
17Abnormal social behavior (HP:0012433)3.41367553
18Impaired social interactions (HP:0000735)3.41367553
19Impaired vibration sensation in the lower limbs (HP:0002166)3.36668685
20Amblyopia (HP:0000646)3.30563151
21Dysdiadochokinesis (HP:0002075)3.24033880
22Anxiety (HP:0000739)3.16435475
23Supranuclear gaze palsy (HP:0000605)3.05517010
24Depression (HP:0000716)3.05448747
25Papillary thyroid carcinoma (HP:0002895)3.03837812
26Dysmetria (HP:0001310)3.03114770
27Truncal ataxia (HP:0002078)2.99811546
28Urinary bladder sphincter dysfunction (HP:0002839)2.98444324
29Drooling (HP:0002307)2.96392100
30Excessive salivation (HP:0003781)2.96392100
31Abnormal eating behavior (HP:0100738)2.94591354
32Ankle clonus (HP:0011448)2.83118709
33Scanning speech (HP:0002168)2.78471403
34Cerebral inclusion bodies (HP:0100314)2.78161997
35Stereotypic behavior (HP:0000733)2.75157351
36Abnormality of binocular vision (HP:0011514)2.74665961
37Diplopia (HP:0000651)2.74665961
38Torticollis (HP:0000473)2.74141817
39Absent speech (HP:0001344)2.70296580
40Impaired smooth pursuit (HP:0007772)2.69439070
41Postural instability (HP:0002172)2.69000780
42Hemiparesis (HP:0001269)2.68451375
43Genetic anticipation (HP:0003743)2.67166023
44Neurofibrillary tangles (HP:0002185)2.60039386
45Focal dystonia (HP:0004373)2.57685378
46Mutism (HP:0002300)2.56392115
47Papilledema (HP:0001085)2.55072105
48Abnormality of the lower motor neuron (HP:0002366)2.51764020
49Progressive inability to walk (HP:0002505)2.49908148
50Inability to walk (HP:0002540)2.48609019
51Urinary urgency (HP:0000012)2.45785424
52Dysmetric saccades (HP:0000641)2.44955253
53Status epilepticus (HP:0002133)2.43845147
54* Epileptiform EEG discharges (HP:0011182)2.43329164
55Fetal akinesia sequence (HP:0001989)2.40488671
56Bradykinesia (HP:0002067)2.39696153
57Termporal pattern (HP:0011008)2.38034668
58Insidious onset (HP:0003587)2.38034668
59Impaired vibratory sensation (HP:0002495)2.36709060
60Alacrima (HP:0000522)2.31434933
61Blue irides (HP:0000635)2.31258034
62Craniofacial dystonia (HP:0012179)2.28403628
63Spastic gait (HP:0002064)2.25305893
64Increased circulating renin level (HP:0000848)2.24798950
65Generalized myoclonic seizures (HP:0002123)2.23771677
66Hepatoblastoma (HP:0002884)2.23659315
67Protruding tongue (HP:0010808)2.23083468
68Annular pancreas (HP:0001734)2.22224211
69Abnormality of ocular smooth pursuit (HP:0000617)2.21744168
70* EEG with generalized epileptiform discharges (HP:0011198)2.21502392
71Polyphagia (HP:0002591)2.20711727
72Hemiplegia (HP:0002301)2.20181561
73Intention tremor (HP:0002080)2.16561271
74Tetraplegia (HP:0002445)2.15729671
75Resting tremor (HP:0002322)2.11686188
76Incomplete penetrance (HP:0003829)2.11143170
77Akinesia (HP:0002304)2.10773174
78Limb dystonia (HP:0002451)2.07358717
79Megalencephaly (HP:0001355)2.07247235
80Abnormality of salivation (HP:0100755)2.02461516
81* Hypsarrhythmia (HP:0002521)2.02313797
82Abnormality of the corticospinal tract (HP:0002492)2.00913168
83Lower limb muscle weakness (HP:0007340)2.00865088
84Generalized hypopigmentation of hair (HP:0011358)2.00513053
85Epidermoid cyst (HP:0200040)1.94990418
86Fair hair (HP:0002286)1.94248858
87Gait imbalance (HP:0002141)1.93788129
88Heterotopia (HP:0002282)1.93719162
89Decreased lacrimation (HP:0000633)1.93638614
90Lower limb amyotrophy (HP:0007210)1.93349105
91Gait ataxia (HP:0002066)1.93170118
92Pheochromocytoma (HP:0002666)1.90435533
93Delusions (HP:0000746)1.86648490
94Lower limb asymmetry (HP:0100559)1.84381883
95Thickened helices (HP:0000391)1.83080210
96Degeneration of the lateral corticospinal tracts (HP:0002314)1.78054993
97Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.78054993
98Aplasia involving bones of the extremities (HP:0009825)1.77942254
99Aplasia involving bones of the upper limbs (HP:0009823)1.77942254
100Aplasia of the phalanges of the hand (HP:0009802)1.77942254
101Widely spaced teeth (HP:0000687)1.77531018
102Pointed chin (HP:0000307)1.77306680
103Exotropia (HP:0000577)1.77301908
104Amyotrophic lateral sclerosis (HP:0007354)1.75853277
105Specific learning disability (HP:0001328)1.75765441
106Oligodactyly (hands) (HP:0001180)1.75710282
107Clonus (HP:0002169)1.74850709
108Abnormal EKG (HP:0003115)1.74062630
109Inappropriate behavior (HP:0000719)1.73789786
110Obstructive sleep apnea (HP:0002870)1.72192929
111Ankyloglossia (HP:0010296)1.71987485
112Bundle branch block (HP:0011710)1.71429639
113Intestinal atresia (HP:0011100)1.70601789
114Psychosis (HP:0000709)1.69917958
115Deeply set eye (HP:0000490)1.69110720
116Hyperthyroidism (HP:0000836)1.68467286
117Morphological abnormality of the pyramidal tract (HP:0002062)1.67774747
118Deep venous thrombosis (HP:0002625)1.66943444
119Spastic tetraparesis (HP:0001285)1.65185866
120Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.60611307
121Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.60593354
122Volvulus (HP:0002580)1.60157653
123Sleep apnea (HP:0010535)1.58902454
124Thyroid carcinoma (HP:0002890)1.57543735
125Spastic tetraplegia (HP:0002510)1.57303928
126Cerebral hypomyelination (HP:0006808)1.55859904

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.52213875
2NTRK34.45786913
3MAP3K93.39316067
4MAP3K42.87047093
5MARK12.79986531
6RIPK42.74302351
7CASK2.60569950
8DAPK22.58201849
9MAP2K72.54481394
10MINK12.46600618
11FRK2.22706846
12KSR22.06307514
13PAK61.94820723
14NTRK21.94397168
15MAP2K41.84026974
16KSR11.83101574
17MAP3K121.77100117
18DAPK11.71666928
19PRKD31.70963354
20TNIK1.69554135
21NTRK11.68654982
22CAMKK11.68306340
23PLK21.65935362
24CDK51.51986038
25PIK3CA1.51626504
26FES1.45487632
27MAPK131.41181848
28ARAF1.39970490
29SIK21.36994447
30MAP3K131.36914025
31BMPR21.36274410
32STK391.34335177
33PRPF4B1.33088478
34GRK51.29751798
35CDK191.26217992
36PRKCG1.22520110
37PNCK1.21041397
38CAMKK21.14897623
39PTK2B1.12562901
40CAMK2A1.08588339
41MAP3K21.06605125
42STK381.02566101
43RAF11.01934057
44TYRO30.95274001
45SGK2230.94049886
46SGK4940.94049886
47WNK40.93107937
48WNK10.92545331
49SGK20.91365180
50BMPR1B0.88622282
51CCNB10.87603149
52CAMK2B0.87433790
53CAMK10.85180275
54OXSR10.83129252
55CDK180.79972244
56STK110.79969653
57OBSCN0.78498107
58UHMK10.76161499
59SGK10.75965764
60ACVR1B0.75943509
61CDK150.75602974
62PKN10.74891127
63PHKG10.74763001
64PHKG20.74763001
65TAOK10.74681664
66CDK140.74585115
67LATS20.74252102
68RET0.68552660
69PINK10.68330206
70SGK30.67264644
71DYRK1A0.66579351
72AKT30.66477998
73PRKCE0.66412231
74FGR0.66372625
75FGFR30.65716592
76CSNK1A1L0.64976811
77SIK30.64532676
78CDK11A0.63586685
79PRKCH0.62713773
80RIPK10.62531376
81CSNK1G10.62165608
82CSNK1D0.61918019
83PDPK10.61351060
84PAK30.60605952
85MARK20.60148137
86PDK10.60016679
87CSNK1E0.59565131
88MAP3K60.57779594
89PRKG10.55425785
90LMTK20.52183284
91CSNK1G20.51727620
92INSRR0.51533519
93DMPK0.51530538
94MAP3K70.50048205
95PRKCZ0.49482537
96NME10.49011017
97NEK60.48208814
98FER0.47205933
99RPS6KA30.46773200
100CDK30.46235804
101MUSK0.46014969
102MAP3K10.45821795
103ERBB20.45221720
104CAMK2D0.44904201
105CAMK2G0.44104488
106FYN0.43502699
107MAPK120.42832315
108RPS6KB10.42431189
109PRKAA10.42091078
110BCR0.41732690
111CSNK1G30.40226250
112ROCK10.39559382
113CAMK1G0.39257474
114FGFR10.38874383
115TNK20.38810076
116CAMK40.38680691
117BRAF0.36553026
118MAPK100.35962949
119WNK30.35936772
120FGFR20.35422946
121DAPK30.34149179
122ADRBK20.32193157
123PRKCB0.31613013
124PRKACA0.31330172
125CDC42BPA0.30935426

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.82426965
2Synaptic vesicle cycle_Homo sapiens_hsa047213.08582597
3Olfactory transduction_Homo sapiens_hsa047402.85354411
4* Circadian entrainment_Homo sapiens_hsa047132.76555143
5* Long-term potentiation_Homo sapiens_hsa047202.75128020
6* Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.73735144
7GABAergic synapse_Homo sapiens_hsa047272.72084459
8Morphine addiction_Homo sapiens_hsa050322.68282628
9Amphetamine addiction_Homo sapiens_hsa050312.68140329
10* Glutamatergic synapse_Homo sapiens_hsa047242.64043182
11* Salivary secretion_Homo sapiens_hsa049702.22832957
12* Dopaminergic synapse_Homo sapiens_hsa047282.20044832
13* Insulin secretion_Homo sapiens_hsa049111.92227331
14* Cholinergic synapse_Homo sapiens_hsa047251.89248292
15* Aldosterone synthesis and secretion_Homo sapiens_hsa049251.87305107
16* Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.85374646
17Taste transduction_Homo sapiens_hsa047421.83587047
18* Renin secretion_Homo sapiens_hsa049241.83131685
19* Gastric acid secretion_Homo sapiens_hsa049711.78626365
20Cocaine addiction_Homo sapiens_hsa050301.75259184
21* Calcium signaling pathway_Homo sapiens_hsa040201.73387094
22* Oxytocin signaling pathway_Homo sapiens_hsa049211.71440524
23* Long-term depression_Homo sapiens_hsa047301.69093097
24* Serotonergic synapse_Homo sapiens_hsa047261.66763231
25* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.55338395
26Collecting duct acid secretion_Homo sapiens_hsa049661.53953199
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.38491265
28* GnRH signaling pathway_Homo sapiens_hsa049121.36414256
29cAMP signaling pathway_Homo sapiens_hsa040241.35117672
30* Gap junction_Homo sapiens_hsa045401.31340957
31* Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.20430851
32Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.17987004
33Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.16442869
34Axon guidance_Homo sapiens_hsa043601.15470396
35Glioma_Homo sapiens_hsa052141.14861291
36Nitrogen metabolism_Homo sapiens_hsa009101.14506670
37Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.10344273
38Type II diabetes mellitus_Homo sapiens_hsa049301.09769397
39Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.08765777
40* cGMP-PKG signaling pathway_Homo sapiens_hsa040221.07508803
41* Phosphatidylinositol signaling system_Homo sapiens_hsa040701.05791414
42* Estrogen signaling pathway_Homo sapiens_hsa049151.02680047
43Vitamin B6 metabolism_Homo sapiens_hsa007500.99719071
44ErbB signaling pathway_Homo sapiens_hsa040120.99253811
45* Vascular smooth muscle contraction_Homo sapiens_hsa042700.96722800
46* Melanogenesis_Homo sapiens_hsa049160.94929579
47Vibrio cholerae infection_Homo sapiens_hsa051100.88404212
48Cardiac muscle contraction_Homo sapiens_hsa042600.86350996
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.86156753
50Phototransduction_Homo sapiens_hsa047440.82962962
51Dorso-ventral axis formation_Homo sapiens_hsa043200.82707818
52Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.82285138
53* Pancreatic secretion_Homo sapiens_hsa049720.81045450
54Oocyte meiosis_Homo sapiens_hsa041140.80908834
55Choline metabolism in cancer_Homo sapiens_hsa052310.80144974
56Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.77601898
57* Phospholipase D signaling pathway_Homo sapiens_hsa040720.76647381
58Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.75391897
59Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.75242452
60Histidine metabolism_Homo sapiens_hsa003400.72303633
61Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.70832006
62Dilated cardiomyopathy_Homo sapiens_hsa054140.69471201
63MAPK signaling pathway_Homo sapiens_hsa040100.66277855
64Arginine biosynthesis_Homo sapiens_hsa002200.65752829
65VEGF signaling pathway_Homo sapiens_hsa043700.61988206
66Ras signaling pathway_Homo sapiens_hsa040140.61606455
67* Thyroid hormone synthesis_Homo sapiens_hsa049180.61041624
68* Glucagon signaling pathway_Homo sapiens_hsa049220.59335030
69Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.58879933
70ABC transporters_Homo sapiens_hsa020100.57499886
71Circadian rhythm_Homo sapiens_hsa047100.57473641
72* Rap1 signaling pathway_Homo sapiens_hsa040150.55434145
73Fatty acid metabolism_Homo sapiens_hsa012120.55384744
74Complement and coagulation cascades_Homo sapiens_hsa046100.54490280
75Bile secretion_Homo sapiens_hsa049760.53838800
76Carbohydrate digestion and absorption_Homo sapiens_hsa049730.53465711
77Arginine and proline metabolism_Homo sapiens_hsa003300.50176810
78Neurotrophin signaling pathway_Homo sapiens_hsa047220.49699067
79Propanoate metabolism_Homo sapiens_hsa006400.48963832
80Type I diabetes mellitus_Homo sapiens_hsa049400.48937029
81beta-Alanine metabolism_Homo sapiens_hsa004100.48690861
82Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.48435583
83Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.47842320
84Hippo signaling pathway_Homo sapiens_hsa043900.47230284
85PPAR signaling pathway_Homo sapiens_hsa033200.46146963
86Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.45801493
87Alzheimers disease_Homo sapiens_hsa050100.45191352
88Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.44740618
89* Sphingolipid signaling pathway_Homo sapiens_hsa040710.44203600
90Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.43932084
91Tight junction_Homo sapiens_hsa045300.43926387
92Alcoholism_Homo sapiens_hsa050340.43830946
93Prion diseases_Homo sapiens_hsa050200.43669661
94mTOR signaling pathway_Homo sapiens_hsa041500.42537862
95Ovarian steroidogenesis_Homo sapiens_hsa049130.42382864
96Non-small cell lung cancer_Homo sapiens_hsa052230.40859070
97Longevity regulating pathway - mammal_Homo sapiens_hsa042110.40319584
98Mineral absorption_Homo sapiens_hsa049780.40239150
99Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.40174588
100Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.39196592
101* Thyroid hormone signaling pathway_Homo sapiens_hsa049190.38804527
102Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.36503287
103Renal cell carcinoma_Homo sapiens_hsa052110.35956485
104* Wnt signaling pathway_Homo sapiens_hsa043100.35151750
105AMPK signaling pathway_Homo sapiens_hsa041520.35103487
106Insulin signaling pathway_Homo sapiens_hsa049100.35046759
107* Inositol phosphate metabolism_Homo sapiens_hsa005620.33374627
108Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.32844319
109Endometrial cancer_Homo sapiens_hsa052130.32451740
110Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.31544856
111Endocytosis_Homo sapiens_hsa041440.30628828
112Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.27697610
113Butanoate metabolism_Homo sapiens_hsa006500.26954232
114Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.26619370
115* African trypanosomiasis_Homo sapiens_hsa051430.26403207
116Fatty acid biosynthesis_Homo sapiens_hsa000610.25769704
117Rheumatoid arthritis_Homo sapiens_hsa053230.24555241

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