PCLO

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 part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. 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)6.04708823
2positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.53758036
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.50652630
4vocalization behavior (GO:0071625)5.38113297
5synaptic vesicle maturation (GO:0016188)5.27772521
6locomotory exploration behavior (GO:0035641)5.17350394
7* synaptic vesicle exocytosis (GO:0016079)5.02385839
8glutamate secretion (GO:0014047)4.88865460
9regulation of synaptic vesicle exocytosis (GO:2000300)4.83216154
10protein localization to synapse (GO:0035418)4.74798404
11neuron cell-cell adhesion (GO:0007158)4.71533660
12regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.71181338
13ionotropic glutamate receptor signaling pathway (GO:0035235)4.64822807
14neuronal action potential propagation (GO:0019227)4.54305529
15synaptic vesicle docking involved in exocytosis (GO:0016081)4.49571199
16regulation of glutamate receptor signaling pathway (GO:1900449)4.48070480
17regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.39592468
18neurotransmitter secretion (GO:0007269)4.36243073
19regulation of synaptic vesicle transport (GO:1902803)4.30228277
20glutamate receptor signaling pathway (GO:0007215)4.28358138
21synaptic transmission, glutamatergic (GO:0035249)4.27015064
22regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.23054613
23exploration behavior (GO:0035640)4.16489071
24neuron-neuron synaptic transmission (GO:0007270)4.09484812
25regulation of long-term neuronal synaptic plasticity (GO:0048169)4.07960911
26cerebellar Purkinje cell differentiation (GO:0021702)4.05066362
27regulation of neuronal synaptic plasticity (GO:0048168)4.01583643
28cellular potassium ion homeostasis (GO:0030007)3.99825907
29positive regulation of membrane potential (GO:0045838)3.85971256
30membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.85118702
31gamma-aminobutyric acid transport (GO:0015812)3.83521736
32neurotransmitter-gated ion channel clustering (GO:0072578)3.82683449
33long-term memory (GO:0007616)3.80966454
34regulation of excitatory postsynaptic membrane potential (GO:0060079)3.80636865
35regulation of postsynaptic membrane potential (GO:0060078)3.76781420
36layer formation in cerebral cortex (GO:0021819)3.68064931
37gamma-aminobutyric acid signaling pathway (GO:0007214)3.67227778
38dendritic spine morphogenesis (GO:0060997)3.67158169
39positive regulation of synapse maturation (GO:0090129)3.66941591
40neurotransmitter transport (GO:0006836)3.65547877
41positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.58610168
42proline transport (GO:0015824)3.56119634
43G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.53885276
44synaptic vesicle endocytosis (GO:0048488)3.53711195
45presynaptic membrane assembly (GO:0097105)3.52964554
46regulation of synapse structural plasticity (GO:0051823)3.52286692
47neuromuscular process controlling posture (GO:0050884)3.51233119
48neuron recognition (GO:0008038)3.45962433
49startle response (GO:0001964)3.45003580
50response to histamine (GO:0034776)3.43493722
51membrane hyperpolarization (GO:0060081)3.42400986
52long-term synaptic potentiation (GO:0060291)3.40527299
53transmission of nerve impulse (GO:0019226)3.39553414
54cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.38714202
55postsynaptic membrane organization (GO:0001941)3.38661153
56neuronal ion channel clustering (GO:0045161)3.37850602
57innervation (GO:0060384)3.37370496
58regulation of neurotransmitter secretion (GO:0046928)3.35583840
59membrane depolarization during action potential (GO:0086010)3.34904934
60cerebellar granule cell differentiation (GO:0021707)3.34542723
61regulation of synaptic plasticity (GO:0048167)3.34060513
62regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.33998430
63regulation of vesicle fusion (GO:0031338)3.33652462
64sodium ion export (GO:0071436)3.32931558
65regulation of neurotransmitter levels (GO:0001505)3.30426195
66regulation of synaptic transmission, glutamatergic (GO:0051966)3.27437373
67negative regulation of synaptic transmission, GABAergic (GO:0032229)3.26394573
68membrane depolarization (GO:0051899)3.22922299
69presynaptic membrane organization (GO:0097090)3.22601586
70detection of calcium ion (GO:0005513)3.22453119
71activation of protein kinase A activity (GO:0034199)3.19719533
72chemosensory behavior (GO:0007635)3.19669413
73pyrimidine nucleobase catabolic process (GO:0006208)3.18950623
74synapse assembly (GO:0007416)3.18110552
75positive regulation of dendritic spine morphogenesis (GO:0061003)3.17468853
76axonal fasciculation (GO:0007413)3.17288742
77positive regulation of dendritic spine development (GO:0060999)3.09941715
78central nervous system projection neuron axonogenesis (GO:0021952)3.08557522
79regulation of neurotransmitter transport (GO:0051588)3.08002841
80negative regulation of cytosolic calcium ion concentration (GO:0051481)3.07535605
81cell communication by electrical coupling (GO:0010644)3.07496016
82mechanosensory behavior (GO:0007638)3.06502115
83dendrite morphogenesis (GO:0048813)3.06189822
84adult walking behavior (GO:0007628)3.04833135
85behavioral fear response (GO:0001662)3.04015965
86behavioral defense response (GO:0002209)3.04015965
87learning (GO:0007612)3.01395380
88fear response (GO:0042596)3.00736083
89positive regulation of synaptic transmission, GABAergic (GO:0032230)3.00409828
90positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.99711682
91negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.99145387
92cell migration in hindbrain (GO:0021535)2.98879687
93negative regulation of dendrite development (GO:2000171)2.97492088
94neuromuscular synaptic transmission (GO:0007274)2.97468342
95intraspecies interaction between organisms (GO:0051703)2.97221031
96social behavior (GO:0035176)2.97221031
97establishment of mitochondrion localization (GO:0051654)2.97205563
98nucleobase catabolic process (GO:0046113)2.97086151
99synaptic transmission (GO:0007268)2.96743628
100positive regulation of neurotransmitter transport (GO:0051590)2.96051879
101response to pheromone (GO:0019236)2.95970993
102regulation of calcium ion-dependent exocytosis (GO:0017158)2.95856976
103neuromuscular process controlling balance (GO:0050885)2.95825459
104cell differentiation in hindbrain (GO:0021533)2.95559031
105auditory behavior (GO:0031223)2.93617739
106positive regulation of neurotransmitter secretion (GO:0001956)2.93202458
107regulation of dendritic spine morphogenesis (GO:0061001)2.92247912
108regulation of synapse maturation (GO:0090128)2.89787597
109long term synaptic depression (GO:0060292)2.89120492
110response to auditory stimulus (GO:0010996)2.89026282
111cochlea development (GO:0090102)2.88611857
112synapse organization (GO:0050808)2.88256125
113serotonin metabolic process (GO:0042428)2.88045018
114positive regulation of potassium ion transmembrane transport (GO:1901381)2.88027003
115potassium ion homeostasis (GO:0055075)2.87183706
116regulation of dendritic spine development (GO:0060998)2.84387364
117L-amino acid import (GO:0043092)2.84347717
118primary amino compound metabolic process (GO:1901160)2.84093486
119neuronal action potential (GO:0019228)2.83325960
120potassium ion import (GO:0010107)2.82386106
121regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.81972686
122calcium ion-dependent exocytosis (GO:0017156)2.79440367
123central nervous system myelination (GO:0022010)2.77529927
124axon ensheathment in central nervous system (GO:0032291)2.77529927

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.89770263
2GBX2_23144817_ChIP-Seq_PC3_Human4.06994936
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.99216481
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.92171333
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.89289359
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.69634844
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.49305166
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.49305166
9SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.45425561
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.45236823
11DROSHA_22980978_ChIP-Seq_HELA_Human2.44362267
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.36608537
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.36588158
14SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.35998398
15EZH2_27304074_Chip-Seq_ESCs_Mouse2.33677439
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.30012377
17GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.28053840
18RARB_27405468_Chip-Seq_BRAIN_Mouse2.24391066
19ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.19422641
20EED_16625203_ChIP-ChIP_MESCs_Mouse2.16133084
21REST_18959480_ChIP-ChIP_MESCs_Mouse2.12822182
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.08788432
23SUZ12_27294783_Chip-Seq_ESCs_Mouse2.07800188
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.04193372
25* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.96148482
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.91417143
27SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.87748264
28TAF15_26573619_Chip-Seq_HEK293_Human1.87538656
29* SMAD4_21799915_ChIP-Seq_A2780_Human1.84335374
30AR_21572438_ChIP-Seq_LNCaP_Human1.82188788
31* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.78522109
32IKZF1_21737484_ChIP-ChIP_HCT116_Human1.74410547
33NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.73383382
34ZFP57_27257070_Chip-Seq_ESCs_Mouse1.72795496
35PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.66453747
36* P300_19829295_ChIP-Seq_ESCs_Human1.55933326
37IGF1R_20145208_ChIP-Seq_DFB_Human1.55750100
38ZNF274_21170338_ChIP-Seq_K562_Hela1.52351023
39GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.49154207
40EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.46108605
41STAT3_23295773_ChIP-Seq_U87_Human1.44128850
42POU3F2_20337985_ChIP-ChIP_501MEL_Human1.42294341
43MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.41786098
44TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.41248738
45NR3C1_23031785_ChIP-Seq_PC12_Mouse1.40234254
46SMAD3_21741376_ChIP-Seq_EPCs_Human1.39573846
47SOX2_21211035_ChIP-Seq_LN229_Gbm1.39353812
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.37569274
49* PIAS1_25552417_ChIP-Seq_VCAP_Human1.36745779
50FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.36487315
51SMAD_19615063_ChIP-ChIP_OVARY_Human1.34100923
52OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.32730875
53* AR_25329375_ChIP-Seq_VCAP_Human1.32693284
54* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.32265482
55* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.31271185
56AR_19668381_ChIP-Seq_PC3_Human1.27952371
57AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.25745514
58TCF4_23295773_ChIP-Seq_U87_Human1.24617709
59ZNF217_24962896_ChIP-Seq_MCF-7_Human1.24077429
60* CBX2_27304074_Chip-Seq_ESCs_Mouse1.24073911
61PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.23932460
62ERG_21242973_ChIP-ChIP_JURKAT_Human1.23910713
63RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.23519912
64SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.20669302
65CDX2_19796622_ChIP-Seq_MESCs_Mouse1.18608594
66TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.18146094
67RING1B_27294783_Chip-Seq_ESCs_Mouse1.16033390
68RNF2_27304074_Chip-Seq_NSC_Mouse1.15554218
69* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.14722740
70* ARNT_22903824_ChIP-Seq_MCF-7_Human1.14690271
71* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.14320619
72FUS_26573619_Chip-Seq_HEK293_Human1.12988660
73* IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.12666723
74* CBP_20019798_ChIP-Seq_JUKART_Human1.12666723
75* AHR_22903824_ChIP-Seq_MCF-7_Human1.09375994
76P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09107536
77WT1_25993318_ChIP-Seq_PODOCYTE_Human1.08142747
78* RUNX2_22187159_ChIP-Seq_PCA_Human1.07389519
79* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06976737
80PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.06901960
81NR3C1_21868756_ChIP-Seq_MCF10A_Human1.05316092
82NANOG_18555785_Chip-Seq_ESCs_Mouse1.04170300
83CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.03775584
84CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.03667573
85* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.03570946
86TP53_16413492_ChIP-PET_HCT116_Human1.03314918
87RING1B_27294783_Chip-Seq_NPCs_Mouse1.01381047
88SOX9_26525672_Chip-Seq_HEART_Mouse1.00668285
89MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00524041
90BCAT_22108803_ChIP-Seq_LS180_Human1.00500038
91TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.00051240
92VDR_22108803_ChIP-Seq_LS180_Human0.99839426
93* KDM2B_26808549_Chip-Seq_REH_Human0.99837059
94* SMAD3_21741376_ChIP-Seq_ESCs_Human0.98954346
95CTNNB1_20460455_ChIP-Seq_HCT116_Human0.98371298
96PRDM14_20953172_ChIP-Seq_ESCs_Human0.98253017
97BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.97287887
98CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96874765
99POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.96542547
100TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96542547
101MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.95819812
102UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.95334596
103STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.95173077
104TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94444816
105* ER_23166858_ChIP-Seq_MCF-7_Human0.93971271
106TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.93449721
107SMAD4_21741376_ChIP-Seq_HESCs_Human0.92543091
108RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.89371250
109DNAJC2_21179169_ChIP-ChIP_NT2_Human0.88236216

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.74038895
2MP0003880_abnormal_central_pattern4.28227769
3* MP0003635_abnormal_synaptic_transmissio3.95465171
4MP0004270_analgesia3.76797066
5MP0009046_muscle_twitch3.34681959
6MP0009745_abnormal_behavioral_response3.25304185
7MP0002063_abnormal_learning/memory/cond3.14087577
8MP0002064_seizures3.10011048
9MP0002572_abnormal_emotion/affect_behav2.83801549
10MP0001968_abnormal_touch/_nociception2.78147320
11MP0005423_abnormal_somatic_nervous2.77105137
12MP0002272_abnormal_nervous_system2.69713410
13MP0002734_abnormal_mechanical_nocicepti2.67226570
14MP0001486_abnormal_startle_reflex2.53962143
15MP0001501_abnormal_sleep_pattern2.49117569
16MP0002822_catalepsy2.33901025
17MP0002735_abnormal_chemical_nociception2.18422349
18MP0009780_abnormal_chondrocyte_physiolo2.11395764
19MP0002067_abnormal_sensory_capabilities2.07062163
20MP0002909_abnormal_adrenal_gland2.03517755
21MP0002736_abnormal_nociception_after2.01065925
22MP0001440_abnormal_grooming_behavior1.98624460
23MP0002733_abnormal_thermal_nociception1.98508158
24MP0008569_lethality_at_weaning1.94035228
25MP0005646_abnormal_pituitary_gland1.91842506
26MP0002184_abnormal_innervation1.88417425
27MP0001970_abnormal_pain_threshold1.88042931
28MP0006276_abnormal_autonomic_nervous1.87084089
29MP0001984_abnormal_olfaction1.82318996
30MP0002557_abnormal_social/conspecific_i1.82161079
31MP0008877_abnormal_DNA_methylation1.80484534
32MP0004924_abnormal_behavior1.78768929
33MP0005386_behavior/neurological_phenoty1.78768929
34MP0005551_abnormal_eye_electrophysiolog1.76323703
35MP0003879_abnormal_hair_cell1.76036734
36MP0005645_abnormal_hypothalamus_physiol1.73605477
37MP0003787_abnormal_imprinting1.73146844
38MP0000778_abnormal_nervous_system1.63490358
39MP0003123_paternal_imprinting1.62231941
40MP0004811_abnormal_neuron_physiology1.59608935
41MP0003122_maternal_imprinting1.55914944
42MP0001188_hyperpigmentation1.54851268
43MP0001502_abnormal_circadian_rhythm1.51751390
44MP0010386_abnormal_urinary_bladder1.49095188
45* MP0002882_abnormal_neuron_morphology1.45686439
46MP0000955_abnormal_spinal_cord1.44199084
47MP0004858_abnormal_nervous_system1.43705815
48MP0002066_abnormal_motor_capabilities/c1.38764816
49MP0003329_amyloid_beta_deposits1.38756135
50MP0000569_abnormal_digit_pigmentation1.30070791
51MP0004142_abnormal_muscle_tone1.29570784
52MP0003633_abnormal_nervous_system1.29207099
53MP0004885_abnormal_endolymph1.25196691
54MP0004145_abnormal_muscle_electrophysio1.24966054
55MP0002229_neurodegeneration1.21699274
56MP0006072_abnormal_retinal_apoptosis1.21475780
57MP0001529_abnormal_vocalization1.20098282
58MP0001905_abnormal_dopamine_level1.13711018
59MP0004043_abnormal_pH_regulation1.13392903
60MP0002638_abnormal_pupillary_reflex1.11665287
61MP0003631_nervous_system_phenotype1.08005893
62MP0003283_abnormal_digestive_organ1.07106387
63MP0002152_abnormal_brain_morphology1.05798855
64MP0005499_abnormal_olfactory_system1.03979580
65MP0005394_taste/olfaction_phenotype1.03979580
66MP0002837_dystrophic_cardiac_calcinosis0.99757278
67MP0000013_abnormal_adipose_tissue0.99591712
68MP0004742_abnormal_vestibular_system0.98934270
69MP0000631_abnormal_neuroendocrine_gland0.94325043
70MP0002069_abnormal_eating/drinking_beha0.93775503
71MP0005253_abnormal_eye_physiology0.92022402
72MP0004085_abnormal_heartbeat0.91704181
73MP0005535_abnormal_body_temperature0.91314957
74MP0002090_abnormal_vision0.90810905
75MP0008872_abnormal_physiological_respon0.89602071
76MP0002752_abnormal_somatic_nervous0.86999683
77MP0001963_abnormal_hearing_physiology0.86393239
78MP0002876_abnormal_thyroid_physiology0.80399626
79MP0004215_abnormal_myocardial_fiber0.79808111
80MP0003634_abnormal_glial_cell0.78927253
81MP0003632_abnormal_nervous_system0.78477964
82MP0003890_abnormal_embryonic-extraembry0.78174696
83MP0001177_atelectasis0.75356721
84MP0003861_abnormal_nervous_system0.74185885
85MP0002653_abnormal_ependyma_morphology0.73078013
86MP0008874_decreased_physiological_sensi0.72417652
87MP0008961_abnormal_basal_metabolism0.71607173
88MP0005409_darkened_coat_color0.70367249
89MP0003195_calcinosis0.69951743
90MP0002102_abnormal_ear_morphology0.69556664
91MP0001485_abnormal_pinna_reflex0.69514368
92MP0000566_synostosis0.68978226
93MP0004233_abnormal_muscle_weight0.68758697
94MP0002693_abnormal_pancreas_physiology0.68724445
95MP0002082_postnatal_lethality0.67610946
96MP0010770_preweaning_lethality0.67610946
97MP0004133_heterotaxia0.67154709
98MP0004147_increased_porphyrin_level0.67119340
99MP0000751_myopathy0.66937301
100MP0003172_abnormal_lysosome_physiology0.65535038
101MP0003868_abnormal_feces_composition0.64987607
102MP0003183_abnormal_peptide_metabolism0.64691794
103MP0002751_abnormal_autonomic_nervous0.63612358
104* MP0010769_abnormal_survival0.63078088
105MP0003045_fibrosis0.62197254
106MP0003690_abnormal_glial_cell0.62067824
107MP0001299_abnormal_eye_distance/0.61979701
108MP0000026_abnormal_inner_ear0.60963025
109MP0001986_abnormal_taste_sensitivity0.60499716
110MP0002234_abnormal_pharynx_morphology0.60409730
111* MP0010768_mortality/aging0.59787304
112MP0001944_abnormal_pancreas_morphology0.57991025
113MP0000920_abnormal_myelination0.57947751
114MP0003137_abnormal_impulse_conducting0.56712240
115MP0001943_abnormal_respiration0.55488850
116MP0005187_abnormal_penis_morphology0.55430995
117MP0003121_genomic_imprinting0.55106399
118MP0005379_endocrine/exocrine_gland_phen0.54651350

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.65536903
2Focal seizures (HP:0007359)5.76435528
3Myokymia (HP:0002411)5.58908109
4Visual hallucinations (HP:0002367)5.20490167
5Epileptic encephalopathy (HP:0200134)5.19858222
6Febrile seizures (HP:0002373)5.01502162
7Progressive cerebellar ataxia (HP:0002073)4.96012091
8Atonic seizures (HP:0010819)4.83671987
9Absence seizures (HP:0002121)4.58377627
10Dialeptic seizures (HP:0011146)4.13717946
11Action tremor (HP:0002345)4.08772423
12Generalized tonic-clonic seizures (HP:0002069)3.99597927
13Gaze-evoked nystagmus (HP:0000640)3.75537906
14Broad-based gait (HP:0002136)3.65111359
15Hyperventilation (HP:0002883)3.60760684
16Truncal ataxia (HP:0002078)3.33140080
17Genetic anticipation (HP:0003743)3.31531491
18Dysdiadochokinesis (HP:0002075)3.20623889
19Poor eye contact (HP:0000817)3.15309758
20Impaired smooth pursuit (HP:0007772)3.04643046
21Epileptiform EEG discharges (HP:0011182)3.04228039
22Supranuclear gaze palsy (HP:0000605)3.00004224
23Drooling (HP:0002307)2.98497882
24Excessive salivation (HP:0003781)2.98497882
25Depression (HP:0000716)2.95283730
26Dysmetria (HP:0001310)2.94310549
27Impaired social interactions (HP:0000735)2.93155741
28Abnormal social behavior (HP:0012433)2.93155741
29EEG with generalized epileptiform discharges (HP:0011198)2.90201301
30Anxiety (HP:0000739)2.88590213
31Urinary bladder sphincter dysfunction (HP:0002839)2.84567881
32Scanning speech (HP:0002168)2.81233189
33Hepatoblastoma (HP:0002884)2.80878051
34Impaired vibration sensation in the lower limbs (HP:0002166)2.79981854
35Papilledema (HP:0001085)2.79694871
36Agitation (HP:0000713)2.74325539
37Amblyopia (HP:0000646)2.72846020
38Postural instability (HP:0002172)2.69413623
39Hypsarrhythmia (HP:0002521)2.68660348
40Ankle clonus (HP:0011448)2.66807923
41Abnormality of ocular smooth pursuit (HP:0000617)2.64688763
42Hemiparesis (HP:0001269)2.63479054
43Absent speech (HP:0001344)2.61304635
44Diplopia (HP:0000651)2.50107365
45Abnormality of binocular vision (HP:0011514)2.50107365
46Mutism (HP:0002300)2.48866166
47Abnormal eating behavior (HP:0100738)2.48431407
48Abnormality of the labia minora (HP:0012880)2.47685791
49Central scotoma (HP:0000603)2.47058083
50Congenital stationary night blindness (HP:0007642)2.41254902
51Dysmetric saccades (HP:0000641)2.40621106
52Pheochromocytoma (HP:0002666)2.37298094
53Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.33348743
54Gait imbalance (HP:0002141)2.32796466
55Hemiplegia (HP:0002301)2.31686432
56Abnormality of macular pigmentation (HP:0008002)2.27915109
57Intention tremor (HP:0002080)2.25540888
58Status epilepticus (HP:0002133)2.24918516
59Spastic gait (HP:0002064)2.24697062
60Bradykinesia (HP:0002067)2.22335906
61Sleep apnea (HP:0010535)2.21458047
62Progressive inability to walk (HP:0002505)2.21321638
63Stereotypic behavior (HP:0000733)2.19444773
64Protruding tongue (HP:0010808)2.17438748
65Abnormality of the corticospinal tract (HP:0002492)2.11866713
66Blue irides (HP:0000635)2.11106416
67Fetal akinesia sequence (HP:0001989)2.04344556
68Degeneration of the lateral corticospinal tracts (HP:0002314)2.03181988
69Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.03181988
70Abnormality of salivation (HP:0100755)2.02390668
71Generalized myoclonic seizures (HP:0002123)2.02313696
72Impaired vibratory sensation (HP:0002495)2.00399079
73Urinary urgency (HP:0000012)1.99531977
74Congenital primary aphakia (HP:0007707)1.98956570
75Neuroendocrine neoplasm (HP:0100634)1.98885877
76Limb dystonia (HP:0002451)1.96164254
77Spastic tetraplegia (HP:0002510)1.94371257
78Torticollis (HP:0000473)1.93990326
79Akinesia (HP:0002304)1.93946388
80Psychosis (HP:0000709)1.93809837
81Hyperinsulinemic hypoglycemia (HP:0000825)1.93674356
82Inability to walk (HP:0002540)1.91761420
83Gait ataxia (HP:0002066)1.90186276
84Polyphagia (HP:0002591)1.89731654
85Specific learning disability (HP:0001328)1.89241931
86Termporal pattern (HP:0011008)1.89194510
87Insidious onset (HP:0003587)1.89194510
88Focal dystonia (HP:0004373)1.87700906
89Medial flaring of the eyebrow (HP:0010747)1.87344040
90Increased circulating renin level (HP:0000848)1.87136674
91Postural tremor (HP:0002174)1.85887644
92Neurofibrillary tangles (HP:0002185)1.85463447
93Cerebral inclusion bodies (HP:0100314)1.85173319
94Megalencephaly (HP:0001355)1.83473901
95Ventricular fibrillation (HP:0001663)1.83054613
96Abnormal EKG (HP:0003115)1.82755784
97Nephronophthisis (HP:0000090)1.82163831
98Nephrogenic diabetes insipidus (HP:0009806)1.80498090
99Hypoglycemic seizures (HP:0002173)1.79704429
100Prolonged QT interval (HP:0001657)1.79685427
101Generalized hypopigmentation of hair (HP:0011358)1.79134960
102Oligodactyly (hands) (HP:0001180)1.78329821
103Abnormality of the lower motor neuron (HP:0002366)1.77067950
104Lower limb muscle weakness (HP:0007340)1.75264079
105Syncope (HP:0001279)1.74258359
106Morphological abnormality of the pyramidal tract (HP:0002062)1.73170599
107Incomplete penetrance (HP:0003829)1.72933944
108Pancreatic fibrosis (HP:0100732)1.72157424
109Inappropriate behavior (HP:0000719)1.71866997
110Volvulus (HP:0002580)1.71442733
111Obstructive sleep apnea (HP:0002870)1.70674362
112Chronic hepatic failure (HP:0100626)1.70555394
113Aqueductal stenosis (HP:0002410)1.70431442
114Widely spaced teeth (HP:0000687)1.70367346
115Decreased circulating renin level (HP:0003351)1.70021860
116Cerebral hypomyelination (HP:0006808)1.69993396
117Macroorchidism (HP:0000053)1.69368028
118Vaginal atresia (HP:0000148)1.69232789
119Failure to thrive in infancy (HP:0001531)1.67826778
120Genital tract atresia (HP:0001827)1.67311239
121Abnormality of the astrocytes (HP:0100707)1.66811161
122Astrocytoma (HP:0009592)1.66811161
123Muscular hypotonia of the trunk (HP:0008936)1.66188458
124Ketoacidosis (HP:0001993)1.65433623
125Poor coordination (HP:0002370)1.63485293
126Intellectual disability, severe (HP:0010864)1.62273229
127Hypoplasia of the corpus callosum (HP:0002079)1.61481447
128Exotropia (HP:0000577)1.61059905
129Alacrima (HP:0000522)1.60942324

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK35.07955731
2MAP3K43.36783038
3EPHA43.32283512
4MAP3K93.29035837
5MARK12.96406014
6MAP2K72.82773654
7CASK2.45555571
8MINK12.45504575
9NTRK22.11155334
10PAK62.09063048
11DAPK22.02882326
12MAP3K121.99118916
13MAP2K41.97591689
14PRKD31.93278894
15TNIK1.91100489
16PNCK1.87486427
17NTRK11.72497836
18CAMKK21.70031042
19RIPK41.67785932
20CAMKK11.61094576
21MAPK131.55298288
22DAPK11.50920042
23CDK51.48677561
24KSR21.41255998
25STK381.40809686
26INSRR1.40503696
27FGFR21.38928522
28MAP4K21.38651891
29PLK21.36813909
30CDK191.34622645
31GRK51.34285354
32PRPF4B1.32289797
33KSR11.30396473
34PRKCG1.26214091
35MAP3K21.25464217
36SIK21.19849640
37CAMK2A1.18228268
38UHMK11.17901032
39SGK21.11668562
40CAMK1D1.11320272
41SGK4941.10288857
42SGK2231.10288857
43AKT31.08187483
44BMPR21.03036961
45CAMK1G1.02210620
46FES1.00905945
47CAMK11.00027712
48CAMK2B0.97002588
49PRKCH0.92112243
50PAK30.91082141
51STK110.84176284
52WNK30.84085186
53PHKG10.83565234
54PHKG20.83565234
55SGK30.83228154
56CDC42BPA0.83023552
57OXSR10.82585147
58WNK10.82386392
59DYRK20.82133444
60DYRK1A0.77253689
61CDK180.77112759
62CSNK1G10.76777189
63RET0.73734026
64CDK150.73633205
65ARAF0.72044507
66CDK140.72029002
67CAMK2D0.71994401
68CSNK1G20.71677198
69CSNK1G30.70578700
70MARK20.69002122
71CSNK1A1L0.68189382
72PKN10.67193781
73BMPR1B0.66804086
74* SGK10.66619154
75TAOK10.65460194
76SIK30.65188450
77MAP3K130.65162633
78PRKCE0.64905656
79TYRO30.62986722
80CDK11A0.62536068
81MAP3K10.62428456
82PINK10.59897995
83NEK60.59490051
84TRIM280.59134170
85CSNK1E0.58256669
86STK390.53591737
87PTK2B0.53545832
88PDK10.53117841
89FRK0.53026139
90* RPS6KA30.52648278
91CSNK1D0.51563009
92HIPK20.50137069
93MAP3K60.49599677
94CAMK40.49553738
95CAMK2G0.49130409
96ADRBK20.47358478
97PRKAA10.47353839
98MAPK100.47014650
99PRKCZ0.46537628
100TNK20.46202713
101ALK0.46189463
102PDPK10.45083504
103GRK10.44848938
104BCR0.44481702
105LATS20.43670810
106FER0.43645409
107PRKCB0.42899075
108* GSK3B0.42812312
109PRKG10.41603787
110NME10.40618399
111FYN0.40409038
112* CSNK1A10.39797684
113WNK40.38784527
114CCNB10.38643544
115CDK30.38293241
116RAF10.38138032
117ERBB30.37707620
118PRKACA0.37611907
119MAP3K70.36905389
120PRKDC0.36426339
121STK38L0.36376976
122ACVR1B0.36109889
123ERBB20.33990699
124MAPK80.33960807
125PRKCA0.32827900
126* PRKACB0.28849886

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.99571830
2Synaptic vesicle cycle_Homo sapiens_hsa047213.30260878
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.83279452
4GABAergic synapse_Homo sapiens_hsa047272.82663812
5Circadian entrainment_Homo sapiens_hsa047132.75573006
6Long-term potentiation_Homo sapiens_hsa047202.65271567
7Glutamatergic synapse_Homo sapiens_hsa047242.62104601
8Morphine addiction_Homo sapiens_hsa050322.56857953
9Amphetamine addiction_Homo sapiens_hsa050312.52427316
10Olfactory transduction_Homo sapiens_hsa047402.46254255
11* Insulin secretion_Homo sapiens_hsa049112.39041979
12Dopaminergic synapse_Homo sapiens_hsa047282.20588375
13Salivary secretion_Homo sapiens_hsa049702.18408676
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.13053041
15Taste transduction_Homo sapiens_hsa047422.06622994
16Cholinergic synapse_Homo sapiens_hsa047251.94594621
17Serotonergic synapse_Homo sapiens_hsa047261.93936131
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.85542888
19Phototransduction_Homo sapiens_hsa047441.77028502
20Cocaine addiction_Homo sapiens_hsa050301.76886429
21Gastric acid secretion_Homo sapiens_hsa049711.74320711
22Long-term depression_Homo sapiens_hsa047301.73780895
23Renin secretion_Homo sapiens_hsa049241.67556028
24Type II diabetes mellitus_Homo sapiens_hsa049301.57409268
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.56065913
26Collecting duct acid secretion_Homo sapiens_hsa049661.55521150
27Calcium signaling pathway_Homo sapiens_hsa040201.55392260
28Oxytocin signaling pathway_Homo sapiens_hsa049211.52596031
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.38483637
30Butanoate metabolism_Homo sapiens_hsa006501.38351139
31Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.35064291
32GnRH signaling pathway_Homo sapiens_hsa049121.31526009
33cAMP signaling pathway_Homo sapiens_hsa040241.27545903
34Gap junction_Homo sapiens_hsa045401.19842042
35Phosphatidylinositol signaling system_Homo sapiens_hsa040701.19463049
36Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.18037935
37Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.15155450
38Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.13370217
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.13311820
40Vibrio cholerae infection_Homo sapiens_hsa051101.11933010
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.10820685
42Estrogen signaling pathway_Homo sapiens_hsa049151.09379081
43Pancreatic secretion_Homo sapiens_hsa049721.07499250
44Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.97022399
45Cardiac muscle contraction_Homo sapiens_hsa042600.95004478
46Axon guidance_Homo sapiens_hsa043600.94779031
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.93549771
48Melanogenesis_Homo sapiens_hsa049160.92697885
49Glioma_Homo sapiens_hsa052140.92346997
50ErbB signaling pathway_Homo sapiens_hsa040120.91346102
51Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.90898039
52Thyroid hormone synthesis_Homo sapiens_hsa049180.88901047
53Carbohydrate digestion and absorption_Homo sapiens_hsa049730.86352612
54Type I diabetes mellitus_Homo sapiens_hsa049400.79549774
55Circadian rhythm_Homo sapiens_hsa047100.79076715
56Dorso-ventral axis formation_Homo sapiens_hsa043200.78935052
57Phospholipase D signaling pathway_Homo sapiens_hsa040720.69621214
58Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.69549351
59Dilated cardiomyopathy_Homo sapiens_hsa054140.69116860
60MAPK signaling pathway_Homo sapiens_hsa040100.68996738
61Fatty acid biosynthesis_Homo sapiens_hsa000610.68766131
62Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.68383742
63Oocyte meiosis_Homo sapiens_hsa041140.67786043
64Choline metabolism in cancer_Homo sapiens_hsa052310.66525167
65Vitamin B6 metabolism_Homo sapiens_hsa007500.65030809
66Glucagon signaling pathway_Homo sapiens_hsa049220.63147202
67Maturity onset diabetes of the young_Homo sapiens_hsa049500.60269424
68Inositol phosphate metabolism_Homo sapiens_hsa005620.59096382
69Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.59009410
70Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.58300652
71beta-Alanine metabolism_Homo sapiens_hsa004100.55393239
72Regulation of autophagy_Homo sapiens_hsa041400.54968074
73Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.53794902
74Thyroid hormone signaling pathway_Homo sapiens_hsa049190.53597536
75Ether lipid metabolism_Homo sapiens_hsa005650.53275583
76Ras signaling pathway_Homo sapiens_hsa040140.53194682
77Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.52960168
78Alcoholism_Homo sapiens_hsa050340.52242290
79mTOR signaling pathway_Homo sapiens_hsa041500.49682237
80Neurotrophin signaling pathway_Homo sapiens_hsa047220.49260742
81Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.44157312
82Longevity regulating pathway - mammal_Homo sapiens_hsa042110.43623023
83Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.41841286
84VEGF signaling pathway_Homo sapiens_hsa043700.40954347
85Bile secretion_Homo sapiens_hsa049760.40930744
86Rap1 signaling pathway_Homo sapiens_hsa040150.40294867
87SNARE interactions in vesicular transport_Homo sapiens_hsa041300.40207702
88Alzheimers disease_Homo sapiens_hsa050100.39551002
89Sphingolipid signaling pathway_Homo sapiens_hsa040710.39318401
90Ovarian steroidogenesis_Homo sapiens_hsa049130.39018016
91ABC transporters_Homo sapiens_hsa020100.38983565
92Wnt signaling pathway_Homo sapiens_hsa043100.38634378
93Hippo signaling pathway_Homo sapiens_hsa043900.36829129
94Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.36147129
95Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.35522713
96Insulin signaling pathway_Homo sapiens_hsa049100.34853445
97Tight junction_Homo sapiens_hsa045300.34189640
98African trypanosomiasis_Homo sapiens_hsa051430.33704737
99Lysine degradation_Homo sapiens_hsa003100.33667563
100Linoleic acid metabolism_Homo sapiens_hsa005910.33342338
101Endometrial cancer_Homo sapiens_hsa052130.32975442
102Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.32433154
103Prion diseases_Homo sapiens_hsa050200.32410019
104AMPK signaling pathway_Homo sapiens_hsa041520.31952266
105Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.30790001
106Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.30090954
107Endocytosis_Homo sapiens_hsa041440.29768593
108Renal cell carcinoma_Homo sapiens_hsa052110.28432884
109Oxidative phosphorylation_Homo sapiens_hsa001900.27219526
110Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.26368339
111Histidine metabolism_Homo sapiens_hsa003400.25510889
112Non-small cell lung cancer_Homo sapiens_hsa052230.25080553
113Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.24848103
114Prolactin signaling pathway_Homo sapiens_hsa049170.23555277
115Mineral absorption_Homo sapiens_hsa049780.23529944
116Chemokine signaling pathway_Homo sapiens_hsa040620.22733672

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