JPH3

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: Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.53368837
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.36774606
3locomotory exploration behavior (GO:0035641)6.04368137
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.90464826
5vocalization behavior (GO:0071625)5.57593163
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.53830347
7synaptic vesicle exocytosis (GO:0016079)5.44529074
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.40949711
9regulation of synaptic vesicle exocytosis (GO:2000300)5.20318396
10neuronal action potential propagation (GO:0019227)5.17519105
11glutamate secretion (GO:0014047)5.16093281
12synaptic vesicle docking involved in exocytosis (GO:0016081)5.10337985
13regulation of glutamate receptor signaling pathway (GO:1900449)5.06272483
14regulation of synapse structural plasticity (GO:0051823)4.82585284
15protein localization to synapse (GO:0035418)4.76362545
16* regulation of neuronal synaptic plasticity (GO:0048168)4.71471383
17regulation of synaptic vesicle transport (GO:1902803)4.68731311
18regulation of long-term neuronal synaptic plasticity (GO:0048169)4.64268004
19cerebellar granule cell differentiation (GO:0021707)4.63934369
20amino acid import (GO:0043090)4.63226399
21ionotropic glutamate receptor signaling pathway (GO:0035235)4.56272024
22neurotransmitter secretion (GO:0007269)4.55344545
23central nervous system myelination (GO:0022010)4.54229242
24axon ensheathment in central nervous system (GO:0032291)4.54229242
25membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.25966169
26neuron cell-cell adhesion (GO:0007158)4.21798447
27* exploration behavior (GO:0035640)4.19252494
28synaptic transmission, glutamatergic (GO:0035249)4.15546231
29dendritic spine morphogenesis (GO:0060997)4.13983067
30layer formation in cerebral cortex (GO:0021819)4.12071509
31neurotransmitter-gated ion channel clustering (GO:0072578)4.04079597
32regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.02711314
33long-term memory (GO:0007616)4.01058381
34glutamate receptor signaling pathway (GO:0007215)4.00342042
35positive regulation of membrane potential (GO:0045838)4.00212096
36potassium ion homeostasis (GO:0055075)3.98518112
37cellular potassium ion homeostasis (GO:0030007)3.90095510
38regulation of excitatory postsynaptic membrane potential (GO:0060079)3.89165571
39positive regulation of synaptic transmission, GABAergic (GO:0032230)3.87021073
40gamma-aminobutyric acid transport (GO:0015812)3.85954444
41proline transport (GO:0015824)3.85543358
42neuron-neuron synaptic transmission (GO:0007270)3.84633575
43potassium ion import (GO:0010107)3.78615728
44positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.77350240
45activation of protein kinase A activity (GO:0034199)3.77067764
46regulation of synapse maturation (GO:0090128)3.71842345
47sodium ion export (GO:0071436)3.71722963
48* neuromuscular process controlling balance (GO:0050885)3.71598571
49regulation of dendritic spine morphogenesis (GO:0061001)3.71427572
50neuromuscular process controlling posture (GO:0050884)3.70561137
51regulation of postsynaptic membrane potential (GO:0060078)3.64984490
52* regulation of synaptic plasticity (GO:0048167)3.64415512
53neurotransmitter transport (GO:0006836)3.62512765
54auditory behavior (GO:0031223)3.62095088
55negative regulation of dendrite morphogenesis (GO:0050774)3.55838456
56prepulse inhibition (GO:0060134)3.53381919
57gamma-aminobutyric acid signaling pathway (GO:0007214)3.53274067
58positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.52369620
59transmission of nerve impulse (GO:0019226)3.51538784
60regulation of neurotransmitter secretion (GO:0046928)3.49935434
61G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.48433915
62membrane depolarization during action potential (GO:0086010)3.48428204
63positive regulation of synapse maturation (GO:0090129)3.47861666
64cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.43377433
65cellular sodium ion homeostasis (GO:0006883)3.42353313
66regulation of neurotransmitter levels (GO:0001505)3.41800586
67response to auditory stimulus (GO:0010996)3.41641368
68cerebellar Purkinje cell differentiation (GO:0021702)3.41234988
69regulation of synaptic transmission, glutamatergic (GO:0051966)3.40673970
70cell migration in hindbrain (GO:0021535)3.37129069
71positive regulation of neurotransmitter transport (GO:0051590)3.37020521
72glycine transport (GO:0015816)3.36430138
73innervation (GO:0060384)3.34681763
74acidic amino acid transport (GO:0015800)3.34563615
75neurotransmitter uptake (GO:0001504)3.33569011
76positive regulation of neurotransmitter secretion (GO:0001956)3.32681431
77regulation of vesicle fusion (GO:0031338)3.32416051
78negative regulation of dendrite development (GO:2000171)3.32021593
79cell communication by electrical coupling (GO:0010644)3.31916378
80neuronal ion channel clustering (GO:0045161)3.31569371
81presynaptic membrane organization (GO:0097090)3.30185772
82membrane depolarization (GO:0051899)3.29263745
83regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.28122733
84regulation of neurotransmitter transport (GO:0051588)3.27528023
85regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.25020562
86postsynaptic membrane organization (GO:0001941)3.21294933
87dendritic spine organization (GO:0097061)3.21124896
88positive regulation of dendritic spine development (GO:0060999)3.21108341
89long-term synaptic potentiation (GO:0060291)3.21073314
90synaptic vesicle endocytosis (GO:0048488)3.20867525
91chemosensory behavior (GO:0007635)3.19919295
92presynaptic membrane assembly (GO:0097105)3.19120015
93neuromuscular synaptic transmission (GO:0007274)3.18867540
94neuron recognition (GO:0008038)3.14869626
95dendrite morphogenesis (GO:0048813)3.13757765
96positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.12364374
97vesicle transport along microtubule (GO:0047496)3.11466621
98regulation of ARF protein signal transduction (GO:0032012)3.11201417
99positive regulation of dendrite development (GO:1900006)3.10282154
100establishment of mitochondrion localization (GO:0051654)3.08935876
101membrane hyperpolarization (GO:0060081)3.08316553
102regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.08142995
103cytoskeletal anchoring at plasma membrane (GO:0007016)3.08008939
104regulation of dendritic spine development (GO:0060998)3.07784481
105vesicle docking involved in exocytosis (GO:0006904)3.07293337
106positive regulation of synaptic transmission (GO:0050806)3.07109665
107establishment of synaptic vesicle localization (GO:0097480)3.06592715
108synaptic vesicle transport (GO:0048489)3.06592715
109* neuromuscular process (GO:0050905)3.04276822
110* regulation of synaptic transmission (GO:0050804)3.03752888
111regulation of voltage-gated calcium channel activity (GO:1901385)3.02955071
112* learning (GO:0007612)3.02945989
113positive regulation of dendritic spine morphogenesis (GO:0061003)3.00198913
114synaptic transmission (GO:0007268)3.00025944
115negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.98989603
116synapse assembly (GO:0007416)2.98950422
117L-amino acid import (GO:0043092)2.97118017
118negative regulation of synaptic transmission, GABAergic (GO:0032229)2.95919937
119behavioral defense response (GO:0002209)2.94037588
120behavioral fear response (GO:0001662)2.94037588
121intraspecies interaction between organisms (GO:0051703)2.93388562
122social behavior (GO:0035176)2.93388562

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.25301203
2* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.27955453
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.25986483
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.12771580
5GBX2_23144817_ChIP-Seq_PC3_Human3.04233581
6* RARB_27405468_Chip-Seq_BRAIN_Mouse3.02717322
7* REST_21632747_ChIP-Seq_MESCs_Mouse2.99402939
8JARID2_20075857_ChIP-Seq_MESCs_Mouse2.92647311
9* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.87904141
10* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.87904141
11* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.70744027
12* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.69427870
13DROSHA_22980978_ChIP-Seq_HELA_Human2.68007230
14* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.62795492
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.57290387
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.56519075
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.56423897
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.47633741
19* REST_18959480_ChIP-ChIP_MESCs_Mouse2.47499574
20MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.47134601
21* EZH2_27294783_Chip-Seq_ESCs_Mouse2.41864773
22IKZF1_21737484_ChIP-ChIP_HCT116_Human2.39531304
23EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.33635356
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.33019692
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.23219643
26EED_16625203_ChIP-ChIP_MESCs_Mouse2.21974353
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.95177580
28ERG_21242973_ChIP-ChIP_JURKAT_Human1.78436527
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.66157636
30AR_21572438_ChIP-Seq_LNCaP_Human1.64680479
31RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.52848582
32GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.51104206
33DNAJC2_21179169_ChIP-ChIP_NT2_Human1.51058563
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.43453530
35SMAD4_21799915_ChIP-Seq_A2780_Human1.42726386
36RING1B_27294783_Chip-Seq_ESCs_Mouse1.42088090
37CTBP2_25329375_ChIP-Seq_LNCAP_Human1.41927180
38KDM2B_26808549_Chip-Seq_K562_Human1.40499670
39GATA1_26923725_Chip-Seq_HPCs_Mouse1.33468811
40PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.33030728
41ZNF274_21170338_ChIP-Seq_K562_Hela1.32997517
42CTBP1_25329375_ChIP-Seq_LNCAP_Human1.32222324
43NR3C1_23031785_ChIP-Seq_PC12_Mouse1.31425920
44TAF15_26573619_Chip-Seq_HEK293_Human1.30959304
45ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.27551538
46* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.26139900
47* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.25961670
48ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.23788086
49SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.22135897
50CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.21663995
51PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.21572781
52* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.19482299
53SOX2_21211035_ChIP-Seq_LN229_Gbm1.18397988
54AR_19668381_ChIP-Seq_PC3_Human1.18016432
55* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.17818412
56SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17696434
57WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.17543916
58RING1B_27294783_Chip-Seq_NPCs_Mouse1.17455977
59TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.16171207
60RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.15270123
61GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.14102143
62IGF1R_20145208_ChIP-Seq_DFB_Human1.12938854
63RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.12932485
64AR_25329375_ChIP-Seq_VCAP_Human1.09362946
65* SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.07700333
66LXR_22292898_ChIP-Seq_THP-1_Human1.06534727
67STAT3_23295773_ChIP-Seq_U87_Human1.05993719
68CTCF_27219007_Chip-Seq_Bcells_Human1.05966582
69TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.05799394
70P53_22127205_ChIP-Seq_FIBROBLAST_Human1.05743378
71SMAD_19615063_ChIP-ChIP_OVARY_Human1.05148897
72P300_19829295_ChIP-Seq_ESCs_Human1.05135420
73SMAD3_21741376_ChIP-Seq_EPCs_Human1.05092699
74BMI1_23680149_ChIP-Seq_NPCS_Mouse1.04346701
75* OCT4_19829295_ChIP-Seq_ESCs_Human1.03538752
76SRY_22984422_ChIP-ChIP_TESTIS_Rat1.02778804
77THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.00852109
78TET1_21490601_ChIP-Seq_MESCs_Mouse1.00319938
79DPY_21335234_ChIP-Seq_ESCs_Mouse0.97327925
80ZFP57_27257070_Chip-Seq_ESCs_Mouse0.96839858
81RNF2_27304074_Chip-Seq_NSC_Mouse0.96499251
82SMAD3_21741376_ChIP-Seq_ESCs_Human0.96326407
83SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.96234189
84TOP2B_26459242_ChIP-Seq_MCF-7_Human0.96070356
85SMC4_20622854_ChIP-Seq_HELA_Human0.95853770
86TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.95846435
87CBX2_27304074_Chip-Seq_ESCs_Mouse0.95097039
88* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.94566217
89TP53_20018659_ChIP-ChIP_R1E_Mouse0.94078715
90YAP1_20516196_ChIP-Seq_MESCs_Mouse0.94040742
91* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.93232122
92VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.92228290
93TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.91616451
94* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.91399398
95OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.90898175
96ZNF217_24962896_ChIP-Seq_MCF-7_Human0.90304503
97KDM2B_26808549_Chip-Seq_SUP-B15_Human0.90110066
98PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.88410905
99SMAD4_21741376_ChIP-Seq_HESCs_Human0.88280457
100TCF4_23295773_ChIP-Seq_U87_Human0.88132617
101CDX2_19796622_ChIP-Seq_MESCs_Mouse0.86612206
102ARNT_22903824_ChIP-Seq_MCF-7_Human0.86278931
103AHR_22903824_ChIP-Seq_MCF-7_Human0.86202541
104* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.86018667
105SMAD3_21741376_ChIP-Seq_HESCs_Human0.85913837
106SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.85544166
107* OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.84178419
108* PRDM14_20953172_ChIP-Seq_ESCs_Human0.83736328
109CREB1_26743006_Chip-Seq_LNCaP_Human0.83157883
110* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82523711
111* KLF4_19829295_ChIP-Seq_ESCs_Human0.81204643
112* P68_20966046_ChIP-Seq_HELA_Human0.81003759
113PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.80308452
114RUNX1_26923725_Chip-Seq_HPCs_Mouse0.80084082
115PIAS1_25552417_ChIP-Seq_VCAP_Human0.79784079
116* RUNX2_22187159_ChIP-Seq_PCA_Human0.79207745
117GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.78841277
118SMAD4_21741376_ChIP-Seq_ESCs_Human0.78826016
119EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.78420191
120TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.77790948
121RXR_22108803_ChIP-Seq_LS180_Human0.75607114
122DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.75144489
123* ESR2_21235772_ChIP-Seq_MCF-7_Human0.74948598
124PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.74863925
125CTNNB1_20460455_ChIP-Seq_HCT116_Human0.73744352
126* FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.70741868
127TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.69710099
128POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.69710099
129SOX9_26525672_Chip-Seq_HEART_Mouse0.69626614

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.97807543
2MP0003880_abnormal_central_pattern4.65641992
3* MP0003635_abnormal_synaptic_transmissio4.24629672
4MP0004270_analgesia4.23792163
5MP0009745_abnormal_behavioral_response3.47338629
6MP0002822_catalepsy3.37105217
7* MP0002063_abnormal_learning/memory/cond3.33784975
8MP0001968_abnormal_touch/_nociception3.20319931
9MP0009046_muscle_twitch3.18094382
10MP0002064_seizures3.14358784
11MP0002735_abnormal_chemical_nociception2.95848195
12MP0002734_abnormal_mechanical_nocicepti2.84309827
13MP0005423_abnormal_somatic_nervous2.72808822
14* MP0002572_abnormal_emotion/affect_behav2.69296718
15* MP0002272_abnormal_nervous_system2.65333031
16MP0001486_abnormal_startle_reflex2.61134387
17MP0002736_abnormal_nociception_after2.49167564
18MP0002733_abnormal_thermal_nociception2.29901027
19MP0004858_abnormal_nervous_system2.26313591
20MP0001970_abnormal_pain_threshold2.22093370
21MP0001501_abnormal_sleep_pattern2.17442734
22MP0006276_abnormal_autonomic_nervous1.99096114
23MP0003329_amyloid_beta_deposits1.98150723
24MP0002909_abnormal_adrenal_gland1.95330892
25MP0004811_abnormal_neuron_physiology1.93922739
26MP0002184_abnormal_innervation1.93003134
27* MP0002067_abnormal_sensory_capabilities1.91682712
28* MP0008569_lethality_at_weaning1.91557324
29MP0001440_abnormal_grooming_behavior1.90096553
30MP0009780_abnormal_chondrocyte_physiolo1.79007906
31MP0002557_abnormal_social/conspecific_i1.76073008
32MP0004924_abnormal_behavior1.68729957
33MP0005386_behavior/neurological_phenoty1.68729957
34MP0003879_abnormal_hair_cell1.67806705
35MP0000955_abnormal_spinal_cord1.67560513
36MP0003123_paternal_imprinting1.62982800
37MP0000778_abnormal_nervous_system1.53436126
38MP0005646_abnormal_pituitary_gland1.53336736
39MP0001984_abnormal_olfaction1.48098228
40MP0002882_abnormal_neuron_morphology1.43453229
41* MP0002066_abnormal_motor_capabilities/c1.40909629
42MP0003633_abnormal_nervous_system1.38810677
43MP0004885_abnormal_endolymph1.32085080
44MP0001529_abnormal_vocalization1.29852704
45MP0004142_abnormal_muscle_tone1.28365731
46MP0005645_abnormal_hypothalamus_physiol1.19771176
47MP0001905_abnormal_dopamine_level1.18519769
48MP0001502_abnormal_circadian_rhythm1.17603846
49MP0003631_nervous_system_phenotype1.15256944
50MP0001188_hyperpigmentation1.13991991
51MP0003787_abnormal_imprinting1.10614904
52MP0003075_altered_response_to1.09433464
53MP0004145_abnormal_muscle_electrophysio1.04643182
54MP0002152_abnormal_brain_morphology1.03227460
55MP0001346_abnormal_lacrimal_gland1.03106836
56MP0008872_abnormal_physiological_respon1.02898149
57MP0008877_abnormal_DNA_methylation1.01052559
58MP0002229_neurodegeneration1.00879821
59MP0003283_abnormal_digestive_organ1.00602509
60MP0000569_abnormal_digit_pigmentation1.00257464
61MP0008874_decreased_physiological_sensi0.99664904
62MP0005409_darkened_coat_color0.93727993
63MP0010386_abnormal_urinary_bladder0.93110355
64MP0000751_myopathy0.92715352
65MP0005535_abnormal_body_temperature0.90756566
66MP0003122_maternal_imprinting0.89283569
67MP0000604_amyloidosis0.88174748
68* MP0002069_abnormal_eating/drinking_beha0.87502154
69MP0001177_atelectasis0.86001099
70MP0003634_abnormal_glial_cell0.81918477
71MP0000920_abnormal_myelination0.81382552
72MP0008961_abnormal_basal_metabolism0.80620162
73MP0004085_abnormal_heartbeat0.80075165
74MP0001963_abnormal_hearing_physiology0.77574975
75MP0003632_abnormal_nervous_system0.77259564
76MP0004742_abnormal_vestibular_system0.77023209
77MP0005623_abnormal_meninges_morphology0.76782477
78MP0000013_abnormal_adipose_tissue0.75879669
79MP0005167_abnormal_blood-brain_barrier0.75387656
80MP0003121_genomic_imprinting0.74621905
81MP0002752_abnormal_somatic_nervous0.74482392
82MP0003690_abnormal_glial_cell0.72368254
83MP0000579_abnormal_nail_morphology0.72197227
84MP0001348_abnormal_lacrimal_gland0.70176833
85MP0005394_taste/olfaction_phenotype0.68333170
86MP0005499_abnormal_olfactory_system0.68333170
87MP0001986_abnormal_taste_sensitivity0.64556954
88MP0001485_abnormal_pinna_reflex0.63816233
89MP0000631_abnormal_neuroendocrine_gland0.62084077
90MP0002638_abnormal_pupillary_reflex0.61311552
91MP0001664_abnormal_digestion0.60441936
92MP0005551_abnormal_eye_electrophysiolog0.60177268
93MP0002653_abnormal_ependyma_morphology0.60140654
94MP0000566_synostosis0.60091256
95MP0000026_abnormal_inner_ear0.60090383
96MP0003137_abnormal_impulse_conducting0.58557857
97MP0003172_abnormal_lysosome_physiology0.58502854
98MP0003938_abnormal_ear_development0.58445415
99MP0002751_abnormal_autonomic_nervous0.58383035
100MP0004510_myositis0.57402808
101MP0002090_abnormal_vision0.56263409
102MP0004130_abnormal_muscle_cell0.53860843
103MP0002249_abnormal_larynx_morphology0.53801111
104MP0004147_increased_porphyrin_level0.52198690
105MP0001299_abnormal_eye_distance/0.52047417
106MP0001943_abnormal_respiration0.51260049
107* MP0010769_abnormal_survival0.50094485
108* MP0003956_abnormal_body_size0.49728653
109MP0005166_decreased_susceptibility_to0.47831933
110MP0002873_normal_phenotype0.47762394
111MP0010770_preweaning_lethality0.47516426
112MP0002082_postnatal_lethality0.47516426
113MP0003861_abnormal_nervous_system0.47237865
114* MP0010768_mortality/aging0.46868937
115MP0004484_altered_response_of0.46844970

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)8.72395771
2Focal motor seizures (HP:0011153)7.76723800
3Focal seizures (HP:0007359)5.88582324
4Visual hallucinations (HP:0002367)5.59803647
5Febrile seizures (HP:0002373)4.72502669
6Atonic seizures (HP:0010819)4.64190054
7Progressive cerebellar ataxia (HP:0002073)4.53328284
8Epileptic encephalopathy (HP:0200134)4.44868453
9Absence seizures (HP:0002121)4.05249124
10Ankle clonus (HP:0011448)4.04770156
11Supranuclear gaze palsy (HP:0000605)4.00215253
12Generalized tonic-clonic seizures (HP:0002069)3.83487151
13Dialeptic seizures (HP:0011146)3.71113105
14Gaze-evoked nystagmus (HP:0000640)3.58499764
15Impaired vibration sensation in the lower limbs (HP:0002166)3.49292889
16Poor eye contact (HP:0000817)3.44477408
17* Action tremor (HP:0002345)3.43633401
18Cerebral hypomyelination (HP:0006808)3.42481356
19Tetraplegia (HP:0002445)3.42115597
20Dysdiadochokinesis (HP:0002075)3.32267794
21Urinary bladder sphincter dysfunction (HP:0002839)3.31634248
22* Depression (HP:0000716)3.28292860
23Broad-based gait (HP:0002136)3.25858501
24Truncal ataxia (HP:0002078)3.25716797
25Postural instability (HP:0002172)3.24068782
26Mutism (HP:0002300)3.23013378
27Dysmetria (HP:0001310)3.15932034
28Annular pancreas (HP:0001734)3.13826009
29Abnormal social behavior (HP:0012433)3.13820433
30Impaired social interactions (HP:0000735)3.13820433
31Papilledema (HP:0001085)3.13047810
32Abnormality of the lower motor neuron (HP:0002366)3.08034603
33Torticollis (HP:0000473)3.06549398
34Abnormal eating behavior (HP:0100738)3.05080716
35* Anxiety (HP:0000739)3.02821754
36Scanning speech (HP:0002168)3.00846266
37Ventricular fibrillation (HP:0001663)2.98181730
38Impaired smooth pursuit (HP:0007772)2.96836513
39Urinary urgency (HP:0000012)2.96050003
40Amblyopia (HP:0000646)2.93957562
41Spastic gait (HP:0002064)2.91575977
42Focal dystonia (HP:0004373)2.90501801
43Akinesia (HP:0002304)2.88982229
44Genetic anticipation (HP:0003743)2.77336421
45Hemiplegia (HP:0002301)2.75636117
46Sleep apnea (HP:0010535)2.74345111
47Intention tremor (HP:0002080)2.69350675
48Hemiparesis (HP:0001269)2.69327406
49Stereotypic behavior (HP:0000733)2.68313242
50Progressive inability to walk (HP:0002505)2.64235238
51Craniofacial dystonia (HP:0012179)2.63529171
52Abnormality of ocular smooth pursuit (HP:0000617)2.53585951
53Megalencephaly (HP:0001355)2.49258218
54Spastic tetraparesis (HP:0001285)2.45151057
55Pointed chin (HP:0000307)2.43959410
56Dysmetric saccades (HP:0000641)2.40699584
57Impaired vibratory sensation (HP:0002495)2.39502855
58Fetal akinesia sequence (HP:0001989)2.39485756
59* Bradykinesia (HP:0002067)2.35668158
60Limb dystonia (HP:0002451)2.33437802
61Insomnia (HP:0100785)2.33415702
62Pheochromocytoma (HP:0002666)2.30589430
63Bundle branch block (HP:0011710)2.28462203
64Diplopia (HP:0000651)2.25477631
65Abnormality of binocular vision (HP:0011514)2.25477631
66Choreoathetosis (HP:0001266)2.22895539
67Lower limb muscle weakness (HP:0007340)2.22381172
68Split foot (HP:0001839)2.18418778
69CNS hypomyelination (HP:0003429)2.17206208
70Insidious onset (HP:0003587)2.17024784
71Termporal pattern (HP:0011008)2.17024784
72Clonus (HP:0002169)2.16251258
73Epileptiform EEG discharges (HP:0011182)2.15743205
74Neurofibrillary tangles (HP:0002185)2.15648555
75Status epilepticus (HP:0002133)2.15387815
76Hyperventilation (HP:0002883)2.13573205
77Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.13218867
78Lower limb asymmetry (HP:0100559)2.12955541
79Morphological abnormality of the pyramidal tract (HP:0002062)2.12741115
80Abnormal EKG (HP:0003115)2.11901398
81EEG with generalized epileptiform discharges (HP:0011198)2.11072890
82Agitation (HP:0000713)2.10884151
83Abnormality of pain sensation (HP:0010832)2.09661136
84Impaired pain sensation (HP:0007328)2.09661136
85Drooling (HP:0002307)2.07646359
86Excessive salivation (HP:0003781)2.07646359
87Incomplete penetrance (HP:0003829)2.04439427
88Resting tremor (HP:0002322)2.03665875
89Hypsarrhythmia (HP:0002521)2.03334654
90Peripheral hypomyelination (HP:0007182)2.00160182
91Spinal canal stenosis (HP:0003416)1.99264636
92Cerebral inclusion bodies (HP:0100314)1.99095226
93Degeneration of the lateral corticospinal tracts (HP:0002314)1.98922359
94Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.98922359
95Neuroendocrine neoplasm (HP:0100634)1.97749268
96Abnormality of the corticospinal tract (HP:0002492)1.97563809
97Obstructive sleep apnea (HP:0002870)1.97516353
98Abnormality of saccadic eye movements (HP:0000570)1.97170154
99Failure to thrive in infancy (HP:0001531)1.96545675
100Rapidly progressive (HP:0003678)1.95801369
101Aplasia involving bones of the upper limbs (HP:0009823)1.93158788
102Aplasia of the phalanges of the hand (HP:0009802)1.93158788
103Aplasia involving bones of the extremities (HP:0009825)1.93158788
104Gait ataxia (HP:0002066)1.92051912
105Increased circulating renin level (HP:0000848)1.91536880
106Absent speech (HP:0001344)1.90161467
107* Delusions (HP:0000746)1.89047149
108* Rigidity (HP:0002063)1.88882004
109Inability to walk (HP:0002540)1.86741095
110Generalized myoclonic seizures (HP:0002123)1.86492984
111Turricephaly (HP:0000262)1.86353595
112Hypercortisolism (HP:0001578)1.85348707
113Neuronal loss in central nervous system (HP:0002529)1.84816186
114Neoplasm of the peripheral nervous system (HP:0100007)1.84654605
115Bronchomalacia (HP:0002780)1.84561160
116Anosmia (HP:0000458)1.84259241
117Lower limb amyotrophy (HP:0007210)1.82798567
118Polyphagia (HP:0002591)1.80289566
119Amyotrophic lateral sclerosis (HP:0007354)1.80152349
120Psychosis (HP:0000709)1.79930493
121Spastic tetraplegia (HP:0002510)1.66235261

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.68112505
2EPHA44.51220451
3MAP3K93.99323562
4MINK13.06550265
5NTRK12.65450109
6MARK12.59754636
7MAP3K42.59666794
8DAPK22.58119631
9KSR22.51789060
10PRKD32.43745058
11MAP2K72.32662358
12PAK62.28800409
13CAMKK12.28737378
14RIPK41.96866271
15NTRK21.92669764
16MAP3K121.87887492
17MAP2K41.73290898
18TNIK1.64471790
19ARAF1.62819265
20CDK51.61493389
21KSR11.53642847
22DAPK11.52317856
23STK381.44999242
24FES1.38339913
25CAMKK21.37981143
26MAPK131.37913518
27CDK191.36694641
28MAP3K21.36262302
29PRPF4B1.35157757
30MAP3K131.28465762
31GRK51.27735521
32UHMK11.26721366
33CASK1.23138161
34PRKCG1.20528757
35SIK21.19002588
36PINK11.18906174
37LMTK21.16791846
38TAOK11.10006993
39CAMK11.08551382
40TYRO31.06816467
41PHKG21.04740484
42PHKG11.04740484
43PLK20.96150624
44MUSK0.96150056
45SGK4940.95124263
46SGK2230.95124263
47RET0.94961580
48PRKCH0.93154342
49RAF10.93095998
50TNK20.90774819
51PKN10.89682474
52STK110.86360532
53CDK180.85604330
54LATS20.84461621
55CDK150.84435176
56SGK20.82929715
57CDK140.82475613
58CAMK2A0.81826245
59MAP3K10.79670659
60MAPK120.78025133
61ALK0.77221784
62PDK10.75735557
63CDK11A0.74668083
64SCYL20.74337526
65SGK30.74256049
66PTK2B0.72666256
67MARK20.72272133
68PDPK10.68795198
69PNCK0.64411249
70CAMK2B0.62976013
71MAP3K110.62073186
72BMPR20.61740304
73BRSK10.60796394
74PAK30.56942024
75SGK10.56817698
76MATK0.56557073
77RIPK10.56281626
78LIMK10.56007440
79CAMK40.53164591
80DYRK1A0.52686322
81CAMK1G0.51728109
82NEK10.51162979
83DYRK20.51112428
84CSNK1G20.50908692
85MAP2K10.50626640
86CAMK1D0.48998032
87WNK10.48885515
88FGFR20.48339534
89MAP3K70.48093967
90PRKCZ0.45786003
91* RPS6KA30.44735883
92NEK60.43124229
93MAPK100.42013412
94CAMK2G0.41818270
95FYN0.41468617
96RPS6KA20.41353590
97OXSR10.38927950
98FER0.37783382
99CDC42BPA0.37320400
100ROCK20.36257516
101DAPK30.35873813
102PRKCE0.35462495
103CSNK1E0.34046368
104CAMK2D0.33280425
105PRKG20.32419352
106PRKD20.29316993
107TAOK20.29257956
108BRAF0.28872030
109CSNK1D0.27791253
110TESK10.27102774
111GSK3B0.27101522
112PRKCB0.25838636
113MAP2K60.25787800
114PRKCA0.25523177
115MAPK80.24532218
116ROCK10.24432429
117DMPK0.23948708
118CCNB10.23606585
119RPS6KB10.23119786

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.34410930
2Nicotine addiction_Homo sapiens_hsa050333.29165807
3Olfactory transduction_Homo sapiens_hsa047403.12238256
4Circadian entrainment_Homo sapiens_hsa047132.72832656
5Long-term potentiation_Homo sapiens_hsa047202.71451489
6Glutamatergic synapse_Homo sapiens_hsa047242.56275167
7GABAergic synapse_Homo sapiens_hsa047272.54102663
8Amphetamine addiction_Homo sapiens_hsa050312.47776698
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.47619438
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.45570493
11Morphine addiction_Homo sapiens_hsa050322.39259434
12Dopaminergic synapse_Homo sapiens_hsa047282.22223983
13Salivary secretion_Homo sapiens_hsa049702.17492373
14Insulin secretion_Homo sapiens_hsa049112.12271501
15Cholinergic synapse_Homo sapiens_hsa047252.07339753
16Aldosterone synthesis and secretion_Homo sapiens_hsa049252.00332156
17Gastric acid secretion_Homo sapiens_hsa049711.96797048
18Vitamin B6 metabolism_Homo sapiens_hsa007501.95218043
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.76879864
20Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.69524775
21Cocaine addiction_Homo sapiens_hsa050301.68198738
22Oxytocin signaling pathway_Homo sapiens_hsa049211.67663592
23Taste transduction_Homo sapiens_hsa047421.66719567
24Long-term depression_Homo sapiens_hsa047301.62894977
25Calcium signaling pathway_Homo sapiens_hsa040201.61325922
26Renin secretion_Homo sapiens_hsa049241.59636237
27GnRH signaling pathway_Homo sapiens_hsa049121.57979386
28Serotonergic synapse_Homo sapiens_hsa047261.52900298
29Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.48334738
30Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.41818978
31Gap junction_Homo sapiens_hsa045401.41289517
32cAMP signaling pathway_Homo sapiens_hsa040241.28240322
33Glioma_Homo sapiens_hsa052141.25222141
34Type II diabetes mellitus_Homo sapiens_hsa049301.23375399
35Phosphatidylinositol signaling system_Homo sapiens_hsa040701.21557260
36Estrogen signaling pathway_Homo sapiens_hsa049151.17571426
37Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.14065989
38Nitrogen metabolism_Homo sapiens_hsa009101.12886319
39Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.09430838
40ErbB signaling pathway_Homo sapiens_hsa040121.08202684
41Collecting duct acid secretion_Homo sapiens_hsa049661.06115273
42Melanogenesis_Homo sapiens_hsa049161.05253966
43Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.04105198
44cGMP-PKG signaling pathway_Homo sapiens_hsa040220.99623372
45Oocyte meiosis_Homo sapiens_hsa041140.97625064
46Phospholipase D signaling pathway_Homo sapiens_hsa040720.95718815
47Axon guidance_Homo sapiens_hsa043600.95448368
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.93208652
49Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.91726037
50Neurotrophin signaling pathway_Homo sapiens_hsa047220.90622906
51Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.89327619
52Dorso-ventral axis formation_Homo sapiens_hsa043200.87028521
53Pancreatic secretion_Homo sapiens_hsa049720.86389988
54Cardiac muscle contraction_Homo sapiens_hsa042600.83683813
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.83403595
56Thyroid hormone synthesis_Homo sapiens_hsa049180.80315220
57Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.79138507
58Carbohydrate digestion and absorption_Homo sapiens_hsa049730.77557090
59VEGF signaling pathway_Homo sapiens_hsa043700.75740743
60Vibrio cholerae infection_Homo sapiens_hsa051100.73871713
61Choline metabolism in cancer_Homo sapiens_hsa052310.72859765
62MAPK signaling pathway_Homo sapiens_hsa040100.69647622
63Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.69223227
64Sphingolipid signaling pathway_Homo sapiens_hsa040710.63138579
65Endocytosis_Homo sapiens_hsa041440.62393473
66Phototransduction_Homo sapiens_hsa047440.61368720
67Rap1 signaling pathway_Homo sapiens_hsa040150.60551690
68Alcoholism_Homo sapiens_hsa050340.58835378
69Glucagon signaling pathway_Homo sapiens_hsa049220.58739803
70Thyroid hormone signaling pathway_Homo sapiens_hsa049190.58265187
71Dilated cardiomyopathy_Homo sapiens_hsa054140.57787680
72Ras signaling pathway_Homo sapiens_hsa040140.56933033
73Non-small cell lung cancer_Homo sapiens_hsa052230.56557840
74Endometrial cancer_Homo sapiens_hsa052130.54488531
75Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.54117691
76mTOR signaling pathway_Homo sapiens_hsa041500.53811823
77Inositol phosphate metabolism_Homo sapiens_hsa005620.53382943
78Type I diabetes mellitus_Homo sapiens_hsa049400.53043642
79Arginine and proline metabolism_Homo sapiens_hsa003300.51919727
80Arginine biosynthesis_Homo sapiens_hsa002200.50935667
81Insulin signaling pathway_Homo sapiens_hsa049100.48696511
82Bile secretion_Homo sapiens_hsa049760.47728462
83Prion diseases_Homo sapiens_hsa050200.45987653
84Hippo signaling pathway_Homo sapiens_hsa043900.44157874
85Chemokine signaling pathway_Homo sapiens_hsa040620.44149702
86SNARE interactions in vesicular transport_Homo sapiens_hsa041300.44065976
87Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.42844242
88Longevity regulating pathway - mammal_Homo sapiens_hsa042110.42579888
89Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.41803670
90Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.40685835
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.40620563
92Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.39911226
93Central carbon metabolism in cancer_Homo sapiens_hsa052300.37700331
94Circadian rhythm_Homo sapiens_hsa047100.37616446
95Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.37041177
96Wnt signaling pathway_Homo sapiens_hsa043100.36968395
97Prolactin signaling pathway_Homo sapiens_hsa049170.35154103
98Alzheimers disease_Homo sapiens_hsa050100.34258438
99Tight junction_Homo sapiens_hsa045300.33819766
100Fatty acid biosynthesis_Homo sapiens_hsa000610.33736290
101Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.33547706
102Platelet activation_Homo sapiens_hsa046110.33197932
103Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.32714918
104African trypanosomiasis_Homo sapiens_hsa051430.31718003
105Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.30843552
106Renal cell carcinoma_Homo sapiens_hsa052110.30705448
107Ovarian steroidogenesis_Homo sapiens_hsa049130.30538733
108Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.28774564
109AMPK signaling pathway_Homo sapiens_hsa041520.27239395
1102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.24834029
111Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.22736394
112Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.20981140
113beta-Alanine metabolism_Homo sapiens_hsa004100.18211416

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