PRRT2

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





Description: This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced 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
1synaptic vesicle maturation (GO:0016188)6.44353362
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.32545312
3locomotory exploration behavior (GO:0035641)6.29081813
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.00000951
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.71888923
6vocalization behavior (GO:0071625)5.62658010
7synaptic vesicle exocytosis (GO:0016079)5.60107529
8glutamate secretion (GO:0014047)5.47149725
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.40094709
10neuronal action potential propagation (GO:0019227)5.30484144
11synaptic vesicle docking involved in exocytosis (GO:0016081)5.17986453
12regulation of synaptic vesicle exocytosis (GO:2000300)5.16412861
13ionotropic glutamate receptor signaling pathway (GO:0035235)5.12246142
14regulation of glutamate receptor signaling pathway (GO:1900449)4.98057095
15neurotransmitter secretion (GO:0007269)4.74850770
16exploration behavior (GO:0035640)4.69624177
17regulation of neuronal synaptic plasticity (GO:0048168)4.62353295
18synaptic transmission, glutamatergic (GO:0035249)4.60301287
19regulation of synaptic vesicle transport (GO:1902803)4.60026682
20glutamate receptor signaling pathway (GO:0007215)4.59548202
21regulation of long-term neuronal synaptic plasticity (GO:0048169)4.58148273
22protein localization to synapse (GO:0035418)4.56416964
23cellular potassium ion homeostasis (GO:0030007)4.49313993
24gamma-aminobutyric acid transport (GO:0015812)4.37572846
25regulation of synapse structural plasticity (GO:0051823)4.33284811
26long-term memory (GO:0007616)4.30541146
27sodium ion export (GO:0071436)4.23772616
28neuron-neuron synaptic transmission (GO:0007270)4.20177724
29layer formation in cerebral cortex (GO:0021819)4.17330513
30cerebellar Purkinje cell differentiation (GO:0021702)4.13482346
31dendritic spine morphogenesis (GO:0060997)4.10815959
32membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.10732471
33neurotransmitter-gated ion channel clustering (GO:0072578)4.09204250
34regulation of excitatory postsynaptic membrane potential (GO:0060079)4.05200748
35positive regulation of membrane potential (GO:0045838)4.00928059
36neuron cell-cell adhesion (GO:0007158)4.00535570
37regulation of synapse maturation (GO:0090128)4.00262406
38cerebellar granule cell differentiation (GO:0021707)3.99850239
39positive regulation of synapse maturation (GO:0090129)3.93921437
40regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.90727389
41presynaptic membrane organization (GO:0097090)3.86320306
42axon ensheathment in central nervous system (GO:0032291)3.82804743
43central nervous system myelination (GO:0022010)3.82804743
44regulation of postsynaptic membrane potential (GO:0060078)3.81526996
45neuromuscular process controlling balance (GO:0050885)3.80308195
46presynaptic membrane assembly (GO:0097105)3.78063955
47neurotransmitter transport (GO:0006836)3.76885277
48cell migration in hindbrain (GO:0021535)3.73335831
49positive regulation of dendritic spine morphogenesis (GO:0061003)3.73100823
50regulation of synaptic plasticity (GO:0048167)3.73058878
51G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.72094435
52proline transport (GO:0015824)3.68588107
53cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.67652103
54regulation of neurotransmitter secretion (GO:0046928)3.60439547
55regulation of dendritic spine morphogenesis (GO:0061001)3.60406337
56transmission of nerve impulse (GO:0019226)3.58216094
57potassium ion homeostasis (GO:0055075)3.58129129
58activation of protein kinase A activity (GO:0034199)3.57111967
59neuromuscular synaptic transmission (GO:0007274)3.56708994
60synaptic vesicle endocytosis (GO:0048488)3.55770312
61gamma-aminobutyric acid signaling pathway (GO:0007214)3.55425877
62regulation of neurotransmitter levels (GO:0001505)3.54275408
63establishment of mitochondrion localization (GO:0051654)3.49594320
64long-term synaptic potentiation (GO:0060291)3.47963319
65positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.47363880
66cell communication by electrical coupling (GO:0010644)3.45691859
67regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.44278624
68regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.41630392
69response to pheromone (GO:0019236)3.41251735
70membrane depolarization during action potential (GO:0086010)3.39254596
71regulation of synaptic transmission, glutamatergic (GO:0051966)3.38844094
72auditory behavior (GO:0031223)3.37161769
73regulation of vesicle fusion (GO:0031338)3.35665669
74membrane depolarization (GO:0051899)3.35590490
75amino acid import (GO:0043090)3.34640722
76negative regulation of synaptic transmission, GABAergic (GO:0032229)3.34590147
77regulation of neurotransmitter transport (GO:0051588)3.32501220
78positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.31679947
79glycine transport (GO:0015816)3.30892275
80prepulse inhibition (GO:0060134)3.26957678
81chemosensory behavior (GO:0007635)3.24517220
82L-amino acid import (GO:0043092)3.22975964
83dendrite morphogenesis (GO:0048813)3.22975515
84membrane hyperpolarization (GO:0060081)3.20456564
85axonal fasciculation (GO:0007413)3.18083325
86cell differentiation in hindbrain (GO:0021533)3.15941179
87response to auditory stimulus (GO:0010996)3.15737378
88regulation of voltage-gated calcium channel activity (GO:1901385)3.14995978
89neuron recognition (GO:0008038)3.14332743
90dendritic spine organization (GO:0097061)3.12970856
91regulation of ARF protein signal transduction (GO:0032012)3.12915478
92positive regulation of dendritic spine development (GO:0060999)3.12848823
93potassium ion import (GO:0010107)3.12420350
94positive regulation of neurotransmitter secretion (GO:0001956)3.11840589
95regulation of synaptic transmission (GO:0050804)3.09952306
96neuronal ion channel clustering (GO:0045161)3.09715187
97innervation (GO:0060384)3.09149384
98positive regulation of synaptic transmission, GABAergic (GO:0032230)3.08337656
99long term synaptic depression (GO:0060292)3.07718800
100positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.06539241
101learning (GO:0007612)3.06369159
102cellular sodium ion homeostasis (GO:0006883)3.05808110
103positive regulation of neurotransmitter transport (GO:0051590)3.05131555
104adult walking behavior (GO:0007628)3.05020988
105behavioral fear response (GO:0001662)3.03568232
106behavioral defense response (GO:0002209)3.03568232
107regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.03386889
108postsynaptic membrane organization (GO:0001941)3.03220292
109regulation of dendritic spine development (GO:0060998)3.02759639
110synaptic transmission (GO:0007268)3.02411918
111* neuromuscular process (GO:0050905)3.01781839
112positive regulation of synaptic transmission (GO:0050806)3.00686620
113pyrimidine nucleobase catabolic process (GO:0006208)3.00477967
114synaptic vesicle transport (GO:0048489)3.00429083
115establishment of synaptic vesicle localization (GO:0097480)3.00429083
116positive regulation of dendrite development (GO:1900006)2.99989767
117mechanosensory behavior (GO:0007638)2.98763929
118cerebellar Purkinje cell layer development (GO:0021680)2.97243747
119negative regulation of dendrite morphogenesis (GO:0050774)2.95058248

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.05064394
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.21371124
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.19009826
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.12152944
5GBX2_23144817_ChIP-Seq_PC3_Human3.10854497
6RNF2_18974828_ChIP-Seq_MESCs_Mouse2.90730346
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.90730346
8REST_21632747_ChIP-Seq_MESCs_Mouse2.82710479
9DROSHA_22980978_ChIP-Seq_HELA_Human2.80905531
10RARB_27405468_Chip-Seq_BRAIN_Mouse2.80508287
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.75933938
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.65329773
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.64591397
14SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.60339307
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.58562118
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.54513737
17IKZF1_21737484_ChIP-ChIP_HCT116_Human2.51723238
18EZH2_27304074_Chip-Seq_ESCs_Mouse2.45106930
19MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.40489716
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.36092060
21REST_18959480_ChIP-ChIP_MESCs_Mouse2.34217811
22SUZ12_27294783_Chip-Seq_ESCs_Mouse2.34038194
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.31521864
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.27933323
25EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.24177008
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.94491321
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.93709796
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.82830660
29ERG_21242973_ChIP-ChIP_JURKAT_Human1.76537863
30AR_21572438_ChIP-Seq_LNCaP_Human1.75938043
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.72966260
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.58695989
33SMAD4_21799915_ChIP-Seq_A2780_Human1.52885940
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.50514064
35DNAJC2_21179169_ChIP-ChIP_NT2_Human1.44388276
36RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.39506320
37ZNF274_21170338_ChIP-Seq_K562_Hela1.36613469
38RING1B_27294783_Chip-Seq_ESCs_Mouse1.35737322
39CTBP1_25329375_ChIP-Seq_LNCAP_Human1.35159252
40PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.31819365
41KDM2B_26808549_Chip-Seq_K562_Human1.28733004
42AR_19668381_ChIP-Seq_PC3_Human1.25739377
43PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.24766173
44NR3C1_23031785_ChIP-Seq_PC12_Mouse1.24690462
45SOX2_21211035_ChIP-Seq_LN229_Gbm1.24375561
46SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.23109847
47OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.23069399
48WT1_25993318_ChIP-Seq_PODOCYTE_Human1.21652322
49WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.19770208
50TAF15_26573619_Chip-Seq_HEK293_Human1.19679400
51ZFP281_18757296_ChIP-ChIP_E14_Mouse1.18777851
52* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.18777733
53RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.17107614
54TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.16840130
55GATA1_26923725_Chip-Seq_HPCs_Mouse1.14766114
56AR_25329375_ChIP-Seq_VCAP_Human1.14225298
57STAT3_23295773_ChIP-Seq_U87_Human1.13352195
58GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.12935590
59RING1B_27294783_Chip-Seq_NPCs_Mouse1.12881673
60SMAD_19615063_ChIP-ChIP_OVARY_Human1.10677547
61TP53_20018659_ChIP-ChIP_R1E_Mouse1.10476815
62TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.10456729
63SMAD3_21741376_ChIP-Seq_EPCs_Human1.10440619
64ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.09157268
65P300_19829295_ChIP-Seq_ESCs_Human1.09087175
66THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.08769005
67TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.05573152
68P53_22127205_ChIP-Seq_FIBROBLAST_Human1.05207307
69ZFP57_27257070_Chip-Seq_ESCs_Mouse1.02731888
70RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.02070555
71SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.01718386
72CBX2_27304074_Chip-Seq_ESCs_Mouse1.00138669
73ZNF217_24962896_ChIP-Seq_MCF-7_Human0.99870400
74TCF4_23295773_ChIP-Seq_U87_Human0.99511389
75YAP1_20516196_ChIP-Seq_MESCs_Mouse0.98323775
76OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.97672650
77PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.97662566
78MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97346129
79TP53_16413492_ChIP-PET_HCT116_Human0.97298615
80TOP2B_26459242_ChIP-Seq_MCF-7_Human0.96988880
81CDX2_19796622_ChIP-Seq_MESCs_Mouse0.96265820
82ARNT_22903824_ChIP-Seq_MCF-7_Human0.95629723
83SMAD3_21741376_ChIP-Seq_ESCs_Human0.94674122
84TET1_21490601_ChIP-Seq_MESCs_Mouse0.94651249
85* CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.93604537
86ZFP281_27345836_Chip-Seq_ESCs_Mouse0.93140457
87SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.92961134
88PIAS1_25552417_ChIP-Seq_VCAP_Human0.92908406
89SMAD4_21741376_ChIP-Seq_HESCs_Human0.92017489
90SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.92014492
91AHR_22903824_ChIP-Seq_MCF-7_Human0.91658972
92EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.91457244
93TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.90999724
94BMI1_23680149_ChIP-Seq_NPCS_Mouse0.90589456
95RXR_22108803_ChIP-Seq_LS180_Human0.89875439
96TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89738037
97OCT4_19829295_ChIP-Seq_ESCs_Human0.89637632
98SMAD3_21741376_ChIP-Seq_HESCs_Human0.89196952
99CTCF_27219007_Chip-Seq_Bcells_Human0.86666081
100SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.86547366
101VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.86533735
102NR3C1_21868756_ChIP-Seq_MCF10A_Human0.85212417
103RUNX2_22187159_ChIP-Seq_PCA_Human0.85148456
104RNF2_27304074_Chip-Seq_NSC_Mouse0.85110706
105PRDM14_20953172_ChIP-Seq_ESCs_Human0.84537917
106TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.84329808
107GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83218448
108PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.82003130
109AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.81053556
110SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79922160
111TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79637311
112POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.79637311
113FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.79220566
114DPY_21335234_ChIP-Seq_ESCs_Mouse0.76076323
115LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.75120473
116KLF4_19829295_ChIP-Seq_ESCs_Human0.72925226
117IGF1R_20145208_ChIP-Seq_DFB_Human0.71994979
118RUNX1_26923725_Chip-Seq_HPCs_Mouse0.70739338

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.17696153
2MP0003880_abnormal_central_pattern4.49390953
3MP0003635_abnormal_synaptic_transmissio4.41870661
4MP0004270_analgesia3.78580417
5MP0009046_muscle_twitch3.63237912
6MP0009745_abnormal_behavioral_response3.54875710
7MP0002063_abnormal_learning/memory/cond3.40796630
8MP0002064_seizures3.34709118
9MP0001968_abnormal_touch/_nociception3.00204302
10MP0002572_abnormal_emotion/affect_behav2.87488459
11MP0002272_abnormal_nervous_system2.83859033
12MP0005423_abnormal_somatic_nervous2.78836800
13MP0002822_catalepsy2.78036966
14MP0002734_abnormal_mechanical_nocicepti2.70455658
15MP0001486_abnormal_startle_reflex2.61656053
16MP0008569_lethality_at_weaning2.44320518
17MP0001501_abnormal_sleep_pattern2.39568650
18MP0002736_abnormal_nociception_after2.31835561
19MP0002735_abnormal_chemical_nociception2.29216800
20MP0001440_abnormal_grooming_behavior2.24161638
21MP0002067_abnormal_sensory_capabilities2.08396046
22MP0002733_abnormal_thermal_nociception2.02094626
23MP0001970_abnormal_pain_threshold1.99031994
24MP0003329_amyloid_beta_deposits1.90788447
25MP0002184_abnormal_innervation1.90675479
26MP0004858_abnormal_nervous_system1.87228788
27MP0009780_abnormal_chondrocyte_physiolo1.81467868
28MP0004811_abnormal_neuron_physiology1.79582281
29MP0002557_abnormal_social/conspecific_i1.75285168
30MP0004924_abnormal_behavior1.72146788
31MP0005386_behavior/neurological_phenoty1.72146788
32MP0003879_abnormal_hair_cell1.66161568
33MP0002909_abnormal_adrenal_gland1.62686093
34MP0000778_abnormal_nervous_system1.62011329
35MP0000955_abnormal_spinal_cord1.60384678
36MP0004885_abnormal_endolymph1.56612628
37MP0002066_abnormal_motor_capabilities/c1.48996295
38MP0003633_abnormal_nervous_system1.46019471
39MP0005646_abnormal_pituitary_gland1.43737148
40MP0004145_abnormal_muscle_electrophysio1.42948766
41MP0002882_abnormal_neuron_morphology1.41894553
42MP0004142_abnormal_muscle_tone1.37332823
43MP0001984_abnormal_olfaction1.35616033
44MP0003787_abnormal_imprinting1.35052613
45MP0003123_paternal_imprinting1.30418330
46MP0006276_abnormal_autonomic_nervous1.29264262
47MP0003631_nervous_system_phenotype1.27397251
48MP0001502_abnormal_circadian_rhythm1.23988175
49MP0008872_abnormal_physiological_respon1.12404523
50MP0002152_abnormal_brain_morphology1.11543200
51MP0006292_abnormal_olfactory_placode1.10761825
52MP0002638_abnormal_pupillary_reflex1.10211872
53MP0008877_abnormal_DNA_methylation1.05796480
54MP0001905_abnormal_dopamine_level1.04065703
55MP0003632_abnormal_nervous_system1.04059305
56MP0005645_abnormal_hypothalamus_physiol1.02029760
57MP0003690_abnormal_glial_cell1.00519175
58MP0003121_genomic_imprinting1.00227780
59MP0004742_abnormal_vestibular_system1.00215600
60MP0003122_maternal_imprinting0.99648659
61MP0000751_myopathy0.99401623
62MP0000920_abnormal_myelination0.99098528
63MP0003075_altered_response_to0.98848802
64MP0003938_abnormal_ear_development0.97037281
65MP0008874_decreased_physiological_sensi0.96497687
66MP0000569_abnormal_digit_pigmentation0.95978863
67MP0002229_neurodegeneration0.95586938
68MP0001529_abnormal_vocalization0.93460990
69MP0002069_abnormal_eating/drinking_beha0.92744577
70MP0004147_increased_porphyrin_level0.91449234
71MP0002653_abnormal_ependyma_morphology0.91332681
72MP0001177_atelectasis0.88559954
73MP0000026_abnormal_inner_ear0.88057662
74MP0003283_abnormal_digestive_organ0.87052841
75MP0008961_abnormal_basal_metabolism0.85602496
76MP0000604_amyloidosis0.85349399
77MP0001986_abnormal_taste_sensitivity0.84855647
78MP0002249_abnormal_larynx_morphology0.83987114
79MP0004085_abnormal_heartbeat0.82526028
80MP0003634_abnormal_glial_cell0.82079323
81MP0005535_abnormal_body_temperature0.80728198
82MP0005551_abnormal_eye_electrophysiolog0.79145553
83MP0001963_abnormal_hearing_physiology0.77640474
84MP0001348_abnormal_lacrimal_gland0.77350514
85MP0004130_abnormal_muscle_cell0.76416159
86MP0004215_abnormal_myocardial_fiber0.76016692
87MP0005167_abnormal_blood-brain_barrier0.75889927
88MP0000013_abnormal_adipose_tissue0.75095320
89MP0001188_hyperpigmentation0.74194696
90MP0001346_abnormal_lacrimal_gland0.72970357
91MP0001485_abnormal_pinna_reflex0.70638135
92MP0004510_myositis0.70040612
93MP0004484_altered_response_of0.69370233
94MP0002752_abnormal_somatic_nervous0.68869176
95MP0000566_synostosis0.68553448
96MP0005394_taste/olfaction_phenotype0.68213596
97MP0005499_abnormal_olfactory_system0.68213596
98MP0003137_abnormal_impulse_conducting0.65710938
99MP0010386_abnormal_urinary_bladder0.65624667
100MP0004133_heterotaxia0.64678928
101MP0005623_abnormal_meninges_morphology0.64624539
102MP0002090_abnormal_vision0.63313569
103MP0004233_abnormal_muscle_weight0.62570038
104MP0004043_abnormal_pH_regulation0.61223721
105MP0001299_abnormal_eye_distance/0.58404334
106MP0000049_abnormal_middle_ear0.58029544
107MP0010769_abnormal_survival0.57087047
108MP0002089_abnormal_postnatal_growth/wei0.56180572
109MP0000631_abnormal_neuroendocrine_gland0.55623940
110MP0003119_abnormal_digestive_system0.54996073
111MP0010768_mortality/aging0.53645379
112MP0005409_darkened_coat_color0.53357290
113MP0001943_abnormal_respiration0.53088504
114MP0003861_abnormal_nervous_system0.52676954
115MP0002082_postnatal_lethality0.52639810
116MP0010770_preweaning_lethality0.52639810
117MP0003172_abnormal_lysosome_physiology0.51676001
118MP0001664_abnormal_digestion0.51292961

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.63918389
2Focal motor seizures (HP:0011153)7.63191950
3Visual hallucinations (HP:0002367)5.77459182
4Progressive cerebellar ataxia (HP:0002073)5.56582341
5* Focal seizures (HP:0007359)5.48091131
6Action tremor (HP:0002345)5.38647536
7Epileptic encephalopathy (HP:0200134)4.82668853
8Atonic seizures (HP:0010819)4.79497530
9Febrile seizures (HP:0002373)4.61069556
10Gaze-evoked nystagmus (HP:0000640)4.24758467
11Absence seizures (HP:0002121)4.20467906
12Generalized tonic-clonic seizures (HP:0002069)3.88543661
13Dialeptic seizures (HP:0011146)3.83444321
14Broad-based gait (HP:0002136)3.75453376
15Dysdiadochokinesis (HP:0002075)3.72537965
16Poor eye contact (HP:0000817)3.59990177
17Dysmetria (HP:0001310)3.59558532
18Supranuclear gaze palsy (HP:0000605)3.52348927
19Impaired vibration sensation in the lower limbs (HP:0002166)3.46697697
20Depression (HP:0000716)3.43139791
21Genetic anticipation (HP:0003743)3.42910695
22Impaired smooth pursuit (HP:0007772)3.38293403
23Ankle clonus (HP:0011448)3.38231575
24Abnormality of the lower motor neuron (HP:0002366)3.38130746
25Scanning speech (HP:0002168)3.35937556
26Truncal ataxia (HP:0002078)3.27980199
27Impaired social interactions (HP:0000735)3.25496824
28Abnormal social behavior (HP:0012433)3.25496824
29Hemiplegia (HP:0002301)3.22872072
30Dysmetric saccades (HP:0000641)3.21786878
31Cerebral hypomyelination (HP:0006808)3.18575637
32Intention tremor (HP:0002080)3.12797218
33Postural instability (HP:0002172)3.11069075
34Urinary bladder sphincter dysfunction (HP:0002839)3.05307886
35Abnormality of ocular smooth pursuit (HP:0000617)3.03829702
36Abnormal eating behavior (HP:0100738)3.01534099
37Annular pancreas (HP:0001734)3.00264318
38Mutism (HP:0002300)2.95931937
39Abnormality of binocular vision (HP:0011514)2.92754174
40Diplopia (HP:0000651)2.92754174
41Hemiparesis (HP:0001269)2.92017888
42Sleep apnea (HP:0010535)2.78538992
43Amblyopia (HP:0000646)2.77351934
44Ventricular fibrillation (HP:0001663)2.75068652
45* Anxiety (HP:0000739)2.74993976
46Torticollis (HP:0000473)2.67444078
47Papilledema (HP:0001085)2.66929153
48Spastic gait (HP:0002064)2.63670753
49Status epilepticus (HP:0002133)2.61409277
50Urinary urgency (HP:0000012)2.60444041
51Focal dystonia (HP:0004373)2.60140643
52Hyperventilation (HP:0002883)2.56730952
53Akinesia (HP:0002304)2.49133620
54Bradykinesia (HP:0002067)2.44818054
55Impaired vibratory sensation (HP:0002495)2.41019539
56Megalencephaly (HP:0001355)2.37295316
57Pointed chin (HP:0000307)2.35700460
58Drooling (HP:0002307)2.35175829
59Excessive salivation (HP:0003781)2.35175829
60Abnormality of the corticospinal tract (HP:0002492)2.30676445
61Bundle branch block (HP:0011710)2.30122194
62Morphological abnormality of the pyramidal tract (HP:0002062)2.25980317
63Epileptiform EEG discharges (HP:0011182)2.25528372
64Abnormality of saccadic eye movements (HP:0000570)2.24235255
65* Stereotypic behavior (HP:0000733)2.23969989
66Progressive inability to walk (HP:0002505)2.22429113
67Neurofibrillary tangles (HP:0002185)2.20769891
68Craniofacial dystonia (HP:0012179)2.19656100
69Gait ataxia (HP:0002066)2.18762622
70Tetraplegia (HP:0002445)2.17597176
71EEG with generalized epileptiform discharges (HP:0011198)2.16342422
72Termporal pattern (HP:0011008)2.16018108
73Insidious onset (HP:0003587)2.16018108
74Cerebral inclusion bodies (HP:0100314)2.14982910
75Agitation (HP:0000713)2.14354494
76Lower limb asymmetry (HP:0100559)2.11082116
77Fetal akinesia sequence (HP:0001989)2.08395830
78Absent speech (HP:0001344)2.08111679
79Hypsarrhythmia (HP:0002521)2.07206569
80Spastic tetraparesis (HP:0001285)2.06840391
81Obstructive sleep apnea (HP:0002870)2.06651096
82Postural tremor (HP:0002174)2.05263547
83CNS hypomyelination (HP:0003429)2.04492560
84Clonus (HP:0002169)2.01682861
85Neuronal loss in central nervous system (HP:0002529)2.00621179
86Lower limb muscle weakness (HP:0007340)1.99626900
87Aplasia involving bones of the extremities (HP:0009825)1.99501857
88Aplasia involving bones of the upper limbs (HP:0009823)1.99501857
89Aplasia of the phalanges of the hand (HP:0009802)1.99501857
90Limb ataxia (HP:0002070)1.99301313
91Degeneration of the lateral corticospinal tracts (HP:0002314)1.98945567
92Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.98945567
93Amyotrophic lateral sclerosis (HP:0007354)1.98625364
94Insomnia (HP:0100785)1.98143685
95Generalized myoclonic seizures (HP:0002123)1.97115785
96Pheochromocytoma (HP:0002666)1.91238741
97Specific learning disability (HP:0001328)1.89988824
98Spinal canal stenosis (HP:0003416)1.89737500
99Psychosis (HP:0000709)1.88972697
100Spastic tetraplegia (HP:0002510)1.87471940
101Gait imbalance (HP:0002141)1.86682443
102* Incomplete penetrance (HP:0003829)1.86676186
103Morphological abnormality of the inner ear (HP:0011390)1.86434564
104Turricephaly (HP:0000262)1.85327548
105Peripheral hypomyelination (HP:0007182)1.83166036
106Rigidity (HP:0002063)1.81908145
107Limb dystonia (HP:0002451)1.79460452
108Abnormal EKG (HP:0003115)1.76408151
109Horizontal nystagmus (HP:0000666)1.75076862
110Apathy (HP:0000741)1.73968571
111Delusions (HP:0000746)1.72854678
112Hypoplasia of the corpus callosum (HP:0002079)1.72125178
113Morphological abnormality of the middle ear (HP:0008609)1.71342918
114Rapidly progressive (HP:0003678)1.71319982
115Split foot (HP:0001839)1.70587431
116Resting tremor (HP:0002322)1.70545725
117Inability to walk (HP:0002540)1.70535813
118Bronchomalacia (HP:0002780)1.70041166
119Slow progression (HP:0003677)1.69259212
120Abnormality of cochlea (HP:0000375)1.66476235
121Polyphagia (HP:0002591)1.65655703
122Neoplasm of the heart (HP:0100544)1.64148278
123Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.63416410

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.60004963
2EPHA44.10381407
3MAP3K93.95510478
4DAPK22.80846877
5MAP3K42.80168728
6MINK12.74936266
7PAK62.50176848
8MARK12.37612512
9CAMKK12.24492774
10KSR22.23786758
11MAP2K72.21150000
12PRKD32.12854222
13NTRK22.05292498
14MAP2K41.85553031
15RIPK41.82309131
16CAMKK21.79396081
17CDK191.76234396
18MAP3K121.68216065
19STK381.67553658
20NTRK11.67087129
21PRPF4B1.63992807
22DAPK11.60011130
23CDK51.58008831
24KSR11.56085266
25TNIK1.45478617
26GRK51.41904159
27ARAF1.38364518
28MAP3K131.36923896
29PRKCG1.31613878
30PLK21.30012899
31SIK21.28752188
32TYRO31.27480216
33RIPK11.21279513
34CAMK11.18961695
35MAPK131.18581238
36FES1.17197514
37UHMK11.16571607
38PNCK1.14196154
39TAOK11.13250531
40MAP3K21.11435005
41CASK1.07325615
42PRKCH1.07319709
43FGFR21.06933721
44SGK4941.01818553
45SGK2231.01818553
46CDK181.01137715
47CDK151.00265692
48STK110.98526596
49DYRK20.94856085
50PTK2B0.94456774
51CDK140.92685134
52CAMK2A0.92257972
53PKN10.91726673
54OXSR10.91618006
55ALK0.91033710
56WNK10.89748097
57PINK10.88590750
58CDK11A0.88262819
59PHKG10.87176826
60PHKG20.87176826
61SGK20.86153243
62SGK30.83595127
63LMTK20.81145690
64RET0.81128835
65CAMK2B0.81089437
66PDK10.80658973
67RAF10.80392148
68MARK20.73487911
69LATS20.71712437
70PDPK10.71523921
71SGK10.69746142
72DYRK1A0.68341030
73PAK30.68302025
74CAMK40.67144752
75MAP3K10.58829604
76CDC42BPA0.58300529
77BMPR20.58164624
78TNK20.57845547
79CAMK1G0.57830117
80NEK60.56201131
81CAMK2G0.54474709
82RPS6KA30.53760785
83ERBB20.53099324
84MAP3K70.50847601
85NEK10.50394415
86LIMK10.49365774
87FYN0.47548679
88CAMK2D0.46431350
89CSNK1G20.46150557
90MAPK100.44053921
91RPS6KA20.43584097
92DAPK30.43246886
93PRKCZ0.42466561
94MAPKAPK50.41572255
95INSRR0.40233045
96BRSK10.38059460
97BCR0.37788504
98PRKACA0.37472803
99MAP3K110.37377791
100PRKCE0.36600387
101SIK30.36369558
102ROCK20.35483723
103MAP2K10.35139767
104WNK40.34581890
105DMPK0.34441304
106FER0.33892067
107CSNK1D0.32423878
108PRKCB0.32025065
109MAPK120.31401935
110MAP2K60.31175621
111PRKCA0.29382504
112CSNK1E0.29288665
113CSNK1A10.29240097
114PRKG10.27122385
115MAPK80.27003815
116CSNK1G30.26248852
117MAP4K20.26029041

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.75148653
2Synaptic vesicle cycle_Homo sapiens_hsa047213.28192063
3Long-term potentiation_Homo sapiens_hsa047202.83709313
4Circadian entrainment_Homo sapiens_hsa047132.78910762
5Glutamatergic synapse_Homo sapiens_hsa047242.76575105
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.68094149
7Olfactory transduction_Homo sapiens_hsa047402.67152946
8GABAergic synapse_Homo sapiens_hsa047272.63731129
9Amphetamine addiction_Homo sapiens_hsa050312.47185656
10Morphine addiction_Homo sapiens_hsa050322.44761548
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.30662605
12Salivary secretion_Homo sapiens_hsa049702.30556059
13Dopaminergic synapse_Homo sapiens_hsa047282.08988291
14Insulin secretion_Homo sapiens_hsa049112.02272866
15Gastric acid secretion_Homo sapiens_hsa049712.00788045
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.97470080
17Cholinergic synapse_Homo sapiens_hsa047251.91003874
18Long-term depression_Homo sapiens_hsa047301.88455547
19Taste transduction_Homo sapiens_hsa047421.81598028
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.73405329
21Oxytocin signaling pathway_Homo sapiens_hsa049211.70070528
22Calcium signaling pathway_Homo sapiens_hsa040201.62672885
23Renin secretion_Homo sapiens_hsa049241.58495003
24Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.53292156
25Cocaine addiction_Homo sapiens_hsa050301.49693366
26Serotonergic synapse_Homo sapiens_hsa047261.49674170
27GnRH signaling pathway_Homo sapiens_hsa049121.48408955
28Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.47231019
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.34943943
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.33229572
31cAMP signaling pathway_Homo sapiens_hsa040241.32972540
32Gap junction_Homo sapiens_hsa045401.31898240
33Phosphatidylinositol signaling system_Homo sapiens_hsa040701.29728286
34Type II diabetes mellitus_Homo sapiens_hsa049301.28712083
35Nitrogen metabolism_Homo sapiens_hsa009101.27619501
36Collecting duct acid secretion_Homo sapiens_hsa049661.19200076
37Estrogen signaling pathway_Homo sapiens_hsa049151.16245050
38Glioma_Homo sapiens_hsa052141.11774699
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.06659989
40Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.02125585
41Melanogenesis_Homo sapiens_hsa049161.01988064
42Pancreatic secretion_Homo sapiens_hsa049720.99484380
43ErbB signaling pathway_Homo sapiens_hsa040120.99279289
44Cardiac muscle contraction_Homo sapiens_hsa042600.95769300
45Axon guidance_Homo sapiens_hsa043600.94735168
46Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.93262924
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.92954025
48Phospholipase D signaling pathway_Homo sapiens_hsa040720.92789150
49Vitamin B6 metabolism_Homo sapiens_hsa007500.92516952
50Oocyte meiosis_Homo sapiens_hsa041140.90427078
51Thyroid hormone synthesis_Homo sapiens_hsa049180.89615421
52Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.88977436
53Dorso-ventral axis formation_Homo sapiens_hsa043200.84867160
54Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.83461780
55Choline metabolism in cancer_Homo sapiens_hsa052310.75185364
56Dilated cardiomyopathy_Homo sapiens_hsa054140.74349032
57Carbohydrate digestion and absorption_Homo sapiens_hsa049730.73793735
58Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.71805880
59MAPK signaling pathway_Homo sapiens_hsa040100.70924177
60Vibrio cholerae infection_Homo sapiens_hsa051100.68646752
61Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.67877321
62VEGF signaling pathway_Homo sapiens_hsa043700.67447944
63Neurotrophin signaling pathway_Homo sapiens_hsa047220.66285144
64Bile secretion_Homo sapiens_hsa049760.61622776
65Inositol phosphate metabolism_Homo sapiens_hsa005620.60941190
66Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.60837450
67Thyroid hormone signaling pathway_Homo sapiens_hsa049190.58579612
68Rap1 signaling pathway_Homo sapiens_hsa040150.55073386
69Glucagon signaling pathway_Homo sapiens_hsa049220.54416578
70mTOR signaling pathway_Homo sapiens_hsa041500.53068826
71Phototransduction_Homo sapiens_hsa047440.52961087
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.52890683
73Endocytosis_Homo sapiens_hsa041440.52023839
74Ras signaling pathway_Homo sapiens_hsa040140.51577664
75Circadian rhythm_Homo sapiens_hsa047100.47691220
76Alzheimers disease_Homo sapiens_hsa050100.44925302
77Longevity regulating pathway - mammal_Homo sapiens_hsa042110.44625926
78Non-small cell lung cancer_Homo sapiens_hsa052230.44518278
79Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.42726585
80Alcoholism_Homo sapiens_hsa050340.42572815
81Hedgehog signaling pathway_Homo sapiens_hsa043400.42112931
82Hippo signaling pathway_Homo sapiens_hsa043900.41057928
83Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.40361813
84Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.40060244
85Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.38992068
86Wnt signaling pathway_Homo sapiens_hsa043100.38738268
87Arginine and proline metabolism_Homo sapiens_hsa003300.38320658
88Endometrial cancer_Homo sapiens_hsa052130.37961998
89Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.36808418
90Chemokine signaling pathway_Homo sapiens_hsa040620.36783212
91Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.36209768
92Renal cell carcinoma_Homo sapiens_hsa052110.35732728
93African trypanosomiasis_Homo sapiens_hsa051430.35606900
94Type I diabetes mellitus_Homo sapiens_hsa049400.35362440
95Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.34829655
96Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.34197682
97Prion diseases_Homo sapiens_hsa050200.34104886
98Insulin signaling pathway_Homo sapiens_hsa049100.33567394
99Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.32434479
100Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.31967120
101Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.31831137
102Ovarian steroidogenesis_Homo sapiens_hsa049130.31235202
103Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.30755306
104SNARE interactions in vesicular transport_Homo sapiens_hsa041300.29543985
105Ether lipid metabolism_Homo sapiens_hsa005650.29491731
106Fatty acid biosynthesis_Homo sapiens_hsa000610.27189067
107Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.25597263
108Platelet activation_Homo sapiens_hsa046110.24530367
109Regulation of autophagy_Homo sapiens_hsa041400.24449999
110Tight junction_Homo sapiens_hsa045300.22802796
111AMPK signaling pathway_Homo sapiens_hsa041520.21353714
112Basal cell carcinoma_Homo sapiens_hsa052170.20494439
113beta-Alanine metabolism_Homo sapiens_hsa004100.20131585
114Protein digestion and absorption_Homo sapiens_hsa049740.20008755

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