JPH4

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 member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.25561622
2synaptic vesicle maturation (GO:0016188)6.23877278
3locomotory exploration behavior (GO:0035641)6.21524622
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.97861948
5vocalization behavior (GO:0071625)5.74996466
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.66946581
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.58264797
8synaptic vesicle exocytosis (GO:0016079)5.28746255
9regulation of glutamate receptor signaling pathway (GO:1900449)5.17116307
10glutamate secretion (GO:0014047)5.04466370
11protein localization to synapse (GO:0035418)4.95999569
12ionotropic glutamate receptor signaling pathway (GO:0035235)4.95309639
13synaptic vesicle docking involved in exocytosis (GO:0016081)4.91799153
14regulation of synaptic vesicle exocytosis (GO:2000300)4.88689637
15exploration behavior (GO:0035640)4.87009376
16regulation of long-term neuronal synaptic plasticity (GO:0048169)4.80188129
17regulation of neuronal synaptic plasticity (GO:0048168)4.80006954
18regulation of synapse structural plasticity (GO:0051823)4.75136763
19layer formation in cerebral cortex (GO:0021819)4.66915202
20dendritic spine morphogenesis (GO:0060997)4.60369400
21L-amino acid import (GO:0043092)4.52086562
22neuron cell-cell adhesion (GO:0007158)4.47722602
23cerebellar granule cell differentiation (GO:0021707)4.45506456
24regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.42748051
25neuronal action potential propagation (GO:0019227)4.42123583
26neurotransmitter secretion (GO:0007269)4.41080754
27synaptic transmission, glutamatergic (GO:0035249)4.38767218
28regulation of synaptic vesicle transport (GO:1902803)4.38017184
29glutamate receptor signaling pathway (GO:0007215)4.33398536
30neurotransmitter-gated ion channel clustering (GO:0072578)4.26172602
31long-term memory (GO:0007616)4.12700115
32regulation of dendritic spine morphogenesis (GO:0061001)4.05937302
33neuron-neuron synaptic transmission (GO:0007270)4.05265507
34regulation of excitatory postsynaptic membrane potential (GO:0060079)4.04753110
35positive regulation of membrane potential (GO:0045838)4.00634753
36regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.00063519
37amino acid import (GO:0043090)3.98527795
38regulation of synapse maturation (GO:0090128)3.97877456
39gamma-aminobutyric acid transport (GO:0015812)3.97140104
40membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.92342430
41central nervous system myelination (GO:0022010)3.90320556
42axon ensheathment in central nervous system (GO:0032291)3.90320556
43potassium ion homeostasis (GO:0055075)3.83264376
44presynaptic membrane assembly (GO:0097105)3.80895612
45regulation of postsynaptic membrane potential (GO:0060078)3.79574823
46proline transport (GO:0015824)3.78103706
47cellular potassium ion homeostasis (GO:0030007)3.76290042
48positive regulation of synapse maturation (GO:0090129)3.73853650
49presynaptic membrane organization (GO:0097090)3.72778017
50auditory behavior (GO:0031223)3.69507499
51potassium ion import (GO:0010107)3.68701597
52* regulation of synaptic plasticity (GO:0048167)3.67330500
53positive regulation of synaptic transmission, GABAergic (GO:0032230)3.66662255
54neuron recognition (GO:0008038)3.63779285
55transmission of nerve impulse (GO:0019226)3.63533854
56establishment of mitochondrion localization (GO:0051654)3.63160923
57positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.59618813
58* neuromuscular process controlling balance (GO:0050885)3.59496035
59regulation of voltage-gated calcium channel activity (GO:1901385)3.55743977
60prepulse inhibition (GO:0060134)3.55324716
61neurotransmitter transport (GO:0006836)3.53659327
62sodium ion export (GO:0071436)3.53633295
63activation of protein kinase A activity (GO:0034199)3.53150041
64regulation of synaptic transmission, glutamatergic (GO:0051966)3.44401576
65regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.44156066
66positive regulation of dendritic spine development (GO:0060999)3.42158142
67regulation of neurotransmitter secretion (GO:0046928)3.40996066
68dendrite morphogenesis (GO:0048813)3.40704059
69dendritic spine organization (GO:0097061)3.40042110
70synaptic vesicle endocytosis (GO:0048488)3.37860521
71axonal fasciculation (GO:0007413)3.37625260
72response to auditory stimulus (GO:0010996)3.37367448
73neuromuscular synaptic transmission (GO:0007274)3.37366847
74regulation of dendritic spine development (GO:0060998)3.37110353
75G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.36206610
76positive regulation of dendritic spine morphogenesis (GO:0061003)3.35991017
77neuronal ion channel clustering (GO:0045161)3.35485470
78positive regulation of neurotransmitter secretion (GO:0001956)3.35032381
79cellular sodium ion homeostasis (GO:0006883)3.34398340
80regulation of vesicle fusion (GO:0031338)3.33446669
81regulation of neurotransmitter levels (GO:0001505)3.31761303
82postsynaptic membrane organization (GO:0001941)3.31254608
83long-term synaptic potentiation (GO:0060291)3.29681824
84positive regulation of neurotransmitter transport (GO:0051590)3.29187987
85cerebellar Purkinje cell differentiation (GO:0021702)3.28745883
86glycine transport (GO:0015816)3.27341211
87membrane depolarization (GO:0051899)3.25785273
88negative regulation of dendrite morphogenesis (GO:0050774)3.23903160
89behavioral defense response (GO:0002209)3.21493604
90behavioral fear response (GO:0001662)3.21493604
91synaptic transmission (GO:0007268)3.19706367
92regulation of neurotransmitter transport (GO:0051588)3.18215706
93cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.17998690
94establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.16547762
95mitochondrion transport along microtubule (GO:0047497)3.16547762
96negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.15847101
97G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.14584405
98cell communication by electrical coupling (GO:0010644)3.13521783
99positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.13190213
100membrane hyperpolarization (GO:0060081)3.13047659
101membrane depolarization during action potential (GO:0086010)3.12617675
102* learning (GO:0007612)3.12366106
103gamma-aminobutyric acid signaling pathway (GO:0007214)3.11564297
104acidic amino acid transport (GO:0015800)3.10653660
105positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.09908234
106neuromuscular process controlling posture (GO:0050884)3.07710198
107adult walking behavior (GO:0007628)3.06479283
108neurotransmitter uptake (GO:0001504)3.05348363
109mechanosensory behavior (GO:0007638)3.05334135
110cell migration in hindbrain (GO:0021535)3.05214462
111negative regulation of synaptic transmission, GABAergic (GO:0032229)3.04622560
112cell differentiation in hindbrain (GO:0021533)3.04186495
113regulation of ARF protein signal transduction (GO:0032012)3.02448701
114regulation of female receptivity (GO:0045924)3.02314693
115social behavior (GO:0035176)3.00965397
116intraspecies interaction between organisms (GO:0051703)3.00965397
117positive regulation of synaptic transmission (GO:0050806)3.00963294
118fear response (GO:0042596)3.00586245
119innervation (GO:0060384)3.00493824
120* regulation of synaptic transmission (GO:0050804)3.00491748
121establishment of synaptic vesicle localization (GO:0097480)3.00367856
122synapse assembly (GO:0007416)2.99211379
123regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.99142848
124vesicle transport along microtubule (GO:0047496)2.98645081
125chemosensory behavior (GO:0007635)2.94643245

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.16570596
2GBX2_23144817_ChIP-Seq_PC3_Human3.22168936
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.19906536
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.17690254
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.09241328
6* RARB_27405468_Chip-Seq_BRAIN_Mouse2.91607974
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.85696653
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.85696653
9* REST_21632747_ChIP-Seq_MESCs_Mouse2.85354324
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.78470345
11DROSHA_22980978_ChIP-Seq_HELA_Human2.67809863
12* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.64076475
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.61423524
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.61344190
15EZH2_27304074_Chip-Seq_ESCs_Mouse2.60140983
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.53783993
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.52850913
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.41782631
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.40097723
20* REST_18959480_ChIP-ChIP_MESCs_Mouse2.33058560
21* RNF2_27304074_Chip-Seq_ESCs_Mouse2.28333987
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.26604804
23IKZF1_21737484_ChIP-ChIP_HCT116_Human2.25994445
24EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.17696081
25* MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.15874578
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.08573756
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.03847320
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.92546299
29AR_21572438_ChIP-Seq_LNCaP_Human1.89994259
30THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.84811908
31TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.79704923
32ERG_21242973_ChIP-ChIP_JURKAT_Human1.73287938
33GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.70019039
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.55933471
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.54142214
36SMAD4_21799915_ChIP-Seq_A2780_Human1.47271500
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.43678410
38RING1B_27294783_Chip-Seq_ESCs_Mouse1.41274419
39RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.40640641
40DNAJC2_21179169_ChIP-ChIP_NT2_Human1.39801179
41TAF15_26573619_Chip-Seq_HEK293_Human1.36000870
42PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.31396709
43PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.28227572
44KDM2B_26808549_Chip-Seq_K562_Human1.26673973
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.25902801
46SOX2_21211035_ChIP-Seq_LN229_Gbm1.24035816
47NR3C1_23031785_ChIP-Seq_PC12_Mouse1.24031000
48WT1_25993318_ChIP-Seq_PODOCYTE_Human1.22544792
49AR_19668381_ChIP-Seq_PC3_Human1.20657489
50RING1B_27294783_Chip-Seq_NPCs_Mouse1.20624046
51* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.20555982
52SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.20408347
53GATA1_26923725_Chip-Seq_HPCs_Mouse1.19687181
54RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.19618616
55* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.18612017
56* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.18460086
57SMAD3_21741376_ChIP-Seq_EPCs_Human1.16505939
58* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.15005202
59ZFP57_27257070_Chip-Seq_ESCs_Mouse1.13992835
60P300_19829295_ChIP-Seq_ESCs_Human1.13041439
61TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.12934191
62P53_22127205_ChIP-Seq_FIBROBLAST_Human1.11670575
63AR_25329375_ChIP-Seq_VCAP_Human1.10976611
64STAT3_23295773_ChIP-Seq_U87_Human1.10823733
65CBX2_27304074_Chip-Seq_ESCs_Mouse1.10512165
66GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09635480
67* ZNF274_21170338_ChIP-Seq_K562_Hela1.06866552
68GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.05284397
69TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04837751
70OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.03431211
71CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.03170752
72TOP2B_26459242_ChIP-Seq_MCF-7_Human1.02531373
73SMAD_19615063_ChIP-ChIP_OVARY_Human1.01447892
74BMI1_23680149_ChIP-Seq_NPCS_Mouse1.01441507
75ZNF217_24962896_ChIP-Seq_MCF-7_Human1.00996423
76ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.99977920
77TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99949134
78SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.99806844
79VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.99557758
80YAP1_20516196_ChIP-Seq_MESCs_Mouse0.99051341
81TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.98427443
82RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.98155601
83RNF2_27304074_Chip-Seq_NSC_Mouse0.97760513
84TCF4_23295773_ChIP-Seq_U87_Human0.97170990
85MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.96511749
86ARNT_22903824_ChIP-Seq_MCF-7_Human0.95718082
87SMAD3_21741376_ChIP-Seq_ESCs_Human0.94651169
88CTCF_27219007_Chip-Seq_Bcells_Human0.94126004
89CDX2_19796622_ChIP-Seq_MESCs_Mouse0.94049585
90SMAD4_21741376_ChIP-Seq_HESCs_Human0.93276417
91* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.92844277
92AHR_22903824_ChIP-Seq_MCF-7_Human0.92427625
93SMAD3_21741376_ChIP-Seq_HESCs_Human0.91658223
94PIAS1_25552417_ChIP-Seq_VCAP_Human0.91530453
95SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.90524236
96* TET1_21490601_ChIP-Seq_MESCs_Mouse0.90449649
97SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.90299641
98IGF1R_20145208_ChIP-Seq_DFB_Human0.89900977
99EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.89496313
100PRDM14_20953172_ChIP-Seq_ESCs_Human0.88946934
101TP53_20018659_ChIP-ChIP_R1E_Mouse0.88561140
102NR3C1_21868756_ChIP-Seq_MCF10A_Human0.87120759
103DPY_21335234_ChIP-Seq_ESCs_Mouse0.86762108
104RUNX2_22187159_ChIP-Seq_PCA_Human0.86291919
105OCT4_19829295_ChIP-Seq_ESCs_Human0.85523935
106TP53_16413492_ChIP-PET_HCT116_Human0.84696439
107LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84330203
108AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.84038084
109ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.83774867
110POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.83063497
111TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83063497
112RXR_22108803_ChIP-Seq_LS180_Human0.82986235
113TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.81168879
114PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.80458927
115* FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.78889297
116CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.77620430
117CTNNB1_20460455_ChIP-Seq_HCT116_Human0.75136259
118KLF4_19829295_ChIP-Seq_ESCs_Human0.74708804
119SOX9_26525672_Chip-Seq_HEART_Mouse0.74280899
120PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.72122689

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.24001904
2MP0003880_abnormal_central_pattern4.65490042
3MP0003635_abnormal_synaptic_transmissio4.34511855
4MP0004270_analgesia3.98376003
5MP0002822_catalepsy3.61230759
6MP0009745_abnormal_behavioral_response3.54507872
7MP0002063_abnormal_learning/memory/cond3.50107532
8MP0002064_seizures3.18410403
9MP0005423_abnormal_somatic_nervous3.00320223
10MP0001968_abnormal_touch/_nociception2.98412879
11MP0009046_muscle_twitch2.94230878
12MP0002572_abnormal_emotion/affect_behav2.84333690
13MP0002734_abnormal_mechanical_nocicepti2.70662138
14MP0002272_abnormal_nervous_system2.61898867
15MP0001486_abnormal_startle_reflex2.60098192
16MP0002735_abnormal_chemical_nociception2.34983780
17MP0002736_abnormal_nociception_after2.23612585
18MP0001501_abnormal_sleep_pattern2.20132568
19MP0001440_abnormal_grooming_behavior2.15167820
20MP0002733_abnormal_thermal_nociception2.11508020
21MP0001970_abnormal_pain_threshold2.05160138
22MP0008569_lethality_at_weaning1.98619537
23MP0009780_abnormal_chondrocyte_physiolo1.95712911
24MP0000778_abnormal_nervous_system1.89739872
25MP0003329_amyloid_beta_deposits1.89154591
26MP0004811_abnormal_neuron_physiology1.88542940
27MP0004858_abnormal_nervous_system1.87529729
28MP0002067_abnormal_sensory_capabilities1.85281952
29MP0002184_abnormal_innervation1.83265205
30MP0002909_abnormal_adrenal_gland1.79327149
31MP0002557_abnormal_social/conspecific_i1.77789005
32MP0004924_abnormal_behavior1.73739980
33MP0005386_behavior/neurological_phenoty1.73739980
34MP0000955_abnormal_spinal_cord1.63878660
35MP0004885_abnormal_endolymph1.54740969
36MP0003879_abnormal_hair_cell1.54313914
37MP0005646_abnormal_pituitary_gland1.48954008
38MP0002066_abnormal_motor_capabilities/c1.45504362
39MP0002882_abnormal_neuron_morphology1.44770166
40MP0001529_abnormal_vocalization1.40269598
41MP0003123_paternal_imprinting1.39961778
42MP0006276_abnormal_autonomic_nervous1.39478329
43MP0003633_abnormal_nervous_system1.36842702
44MP0001984_abnormal_olfaction1.35248185
45MP0005645_abnormal_hypothalamus_physiol1.28237258
46MP0001905_abnormal_dopamine_level1.21770508
47MP0003787_abnormal_imprinting1.20778534
48MP0003631_nervous_system_phenotype1.17387600
49MP0001502_abnormal_circadian_rhythm1.17231797
50MP0002152_abnormal_brain_morphology1.14217824
51MP0004142_abnormal_muscle_tone1.11826035
52MP0008877_abnormal_DNA_methylation1.08393583
53MP0001188_hyperpigmentation1.06833560
54MP0008872_abnormal_physiological_respon1.05828272
55MP0000569_abnormal_digit_pigmentation1.03321356
56MP0003075_altered_response_to1.01908364
57MP0003121_genomic_imprinting1.01688136
58MP0003283_abnormal_digestive_organ1.00254611
59MP0002069_abnormal_eating/drinking_beha0.97326028
60MP0002653_abnormal_ependyma_morphology0.95254225
61MP0001177_atelectasis0.95015378
62MP0000920_abnormal_myelination0.94859182
63MP0008874_decreased_physiological_sensi0.94479050
64MP0002229_neurodegeneration0.93336507
65MP0003690_abnormal_glial_cell0.90290858
66MP0000751_myopathy0.88782044
67MP0003632_abnormal_nervous_system0.86607214
68MP0004742_abnormal_vestibular_system0.86503788
69MP0008961_abnormal_basal_metabolism0.85887043
70MP0003122_maternal_imprinting0.85626648
71MP0003634_abnormal_glial_cell0.85482741
72MP0004145_abnormal_muscle_electrophysio0.85320105
73MP0005409_darkened_coat_color0.85317581
74MP0005535_abnormal_body_temperature0.82959926
75MP0000604_amyloidosis0.82942285
76MP0004085_abnormal_heartbeat0.82750832
77MP0000566_synostosis0.80118510
78MP0006292_abnormal_olfactory_placode0.79189702
79MP0005394_taste/olfaction_phenotype0.77409228
80MP0005499_abnormal_olfactory_system0.77409228
81MP0005167_abnormal_blood-brain_barrier0.75187269
82MP0001346_abnormal_lacrimal_gland0.75154986
83MP0000013_abnormal_adipose_tissue0.73480130
84MP0001963_abnormal_hearing_physiology0.73456779
85MP0000631_abnormal_neuroendocrine_gland0.73236959
86MP0001986_abnormal_taste_sensitivity0.72021970
87MP0002752_abnormal_somatic_nervous0.71915613
88MP0005551_abnormal_eye_electrophysiolog0.71640554
89MP0002090_abnormal_vision0.69690774
90MP0003137_abnormal_impulse_conducting0.69237743
91MP0010386_abnormal_urinary_bladder0.68031752
92MP0004130_abnormal_muscle_cell0.67312792
93MP0000026_abnormal_inner_ear0.66165863
94MP0003938_abnormal_ear_development0.65579940
95MP0004147_increased_porphyrin_level0.62083923
96MP0000579_abnormal_nail_morphology0.61696565
97MP0004510_myositis0.61334439
98MP0001485_abnormal_pinna_reflex0.60703857
99MP0003861_abnormal_nervous_system0.60426095
100MP0001664_abnormal_digestion0.58451555
101MP0001348_abnormal_lacrimal_gland0.57987805
102MP0004133_heterotaxia0.57110441
103MP0004484_altered_response_of0.56550807
104MP0002638_abnormal_pupillary_reflex0.54835551
105MP0010234_abnormal_vibrissa_follicle0.54427961
106MP0010769_abnormal_survival0.53783858
107MP0001299_abnormal_eye_distance/0.53047531
108MP0004043_abnormal_pH_regulation0.52835093
109MP0001943_abnormal_respiration0.52363955
110MP0003183_abnormal_peptide_metabolism0.51119919
111MP0002082_postnatal_lethality0.50456768
112MP0010770_preweaning_lethality0.50456768
113MP0010768_mortality/aging0.50454503
114MP0003956_abnormal_body_size0.50318594
115MP0004215_abnormal_myocardial_fiber0.50239094
116MP0005187_abnormal_penis_morphology0.50152342

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)8.15678469
2Focal motor seizures (HP:0011153)7.39244353
3Focal seizures (HP:0007359)5.76722740
4Visual hallucinations (HP:0002367)5.34266286
5Epileptic encephalopathy (HP:0200134)4.47690651
6Action tremor (HP:0002345)4.39503549
7Progressive cerebellar ataxia (HP:0002073)4.34926811
8Atonic seizures (HP:0010819)4.00648194
9Febrile seizures (HP:0002373)3.97336800
10Supranuclear gaze palsy (HP:0000605)3.85037200
11Absence seizures (HP:0002121)3.80265520
12Ankle clonus (HP:0011448)3.76183736
13Broad-based gait (HP:0002136)3.72677200
14Generalized tonic-clonic seizures (HP:0002069)3.67056015
15Poor eye contact (HP:0000817)3.59489135
16Dialeptic seizures (HP:0011146)3.53978896
17Mutism (HP:0002300)3.47339160
18Impaired vibration sensation in the lower limbs (HP:0002166)3.45108642
19Depression (HP:0000716)3.41614377
20Gaze-evoked nystagmus (HP:0000640)3.39547309
21Dysdiadochokinesis (HP:0002075)3.31683992
22Dysmetria (HP:0001310)3.26628030
23Anxiety (HP:0000739)3.24281219
24Papilledema (HP:0001085)3.23653188
25Abnormal social behavior (HP:0012433)3.19070328
26Impaired social interactions (HP:0000735)3.19070328
27Urinary bladder sphincter dysfunction (HP:0002839)3.18560588
28Torticollis (HP:0000473)3.11235439
29Postural instability (HP:0002172)3.10989645
30Abnormal eating behavior (HP:0100738)3.03702692
31Abnormality of the lower motor neuron (HP:0002366)3.02540269
32Truncal ataxia (HP:0002078)2.99383693
33Amblyopia (HP:0000646)2.95516785
34Focal dystonia (HP:0004373)2.90989997
35Neurofibrillary tangles (HP:0002185)2.88608586
36Cerebral hypomyelination (HP:0006808)2.85758850
37Urinary urgency (HP:0000012)2.82818053
38Megalencephaly (HP:0001355)2.80747393
39Cerebral inclusion bodies (HP:0100314)2.78469738
40Spastic gait (HP:0002064)2.75786039
41Intention tremor (HP:0002080)2.75235011
42Genetic anticipation (HP:0003743)2.74832301
43Annular pancreas (HP:0001734)2.74281478
44Impaired smooth pursuit (HP:0007772)2.69945690
45Hyperventilation (HP:0002883)2.69440993
46Stereotypic behavior (HP:0000733)2.68448119
47Hemiparesis (HP:0001269)2.68080725
48Tetraplegia (HP:0002445)2.65495964
49Drooling (HP:0002307)2.64265013
50Excessive salivation (HP:0003781)2.64265013
51Scanning speech (HP:0002168)2.62514784
52Craniofacial dystonia (HP:0012179)2.60557575
53Abnormality of binocular vision (HP:0011514)2.60083246
54Diplopia (HP:0000651)2.60083246
55Progressive inability to walk (HP:0002505)2.59661160
56Bradykinesia (HP:0002067)2.55659371
57Limb dystonia (HP:0002451)2.54990114
58Abnormality of the corticospinal tract (HP:0002492)2.47535492
59Obstructive sleep apnea (HP:0002870)2.45359759
60Hemiplegia (HP:0002301)2.41965089
61Amyotrophic lateral sclerosis (HP:0007354)2.36771727
62Abnormality of ocular smooth pursuit (HP:0000617)2.36504827
63Insidious onset (HP:0003587)2.36049775
64Termporal pattern (HP:0011008)2.36049775
65Pointed chin (HP:0000307)2.35670693
66Ventricular fibrillation (HP:0001663)2.33490906
67Spastic tetraparesis (HP:0001285)2.31087790
68Impaired vibratory sensation (HP:0002495)2.28313660
69Epileptiform EEG discharges (HP:0011182)2.24786533
70Dysmetric saccades (HP:0000641)2.23982475
71Lower limb muscle weakness (HP:0007340)2.23712088
72Insomnia (HP:0100785)2.22650131
73EEG with generalized epileptiform discharges (HP:0011198)2.18744871
74Fetal akinesia sequence (HP:0001989)2.17934303
75Morphological abnormality of the pyramidal tract (HP:0002062)2.17653065
76Absent speech (HP:0001344)2.15807074
77Aplasia involving bones of the upper limbs (HP:0009823)2.12494041
78Aplasia of the phalanges of the hand (HP:0009802)2.12494041
79Aplasia involving bones of the extremities (HP:0009825)2.12494041
80Hypsarrhythmia (HP:0002521)2.11547464
81Status epilepticus (HP:0002133)2.07659960
82Clonus (HP:0002169)2.06832608
83Lower limb asymmetry (HP:0100559)2.06799764
84Split foot (HP:0001839)2.05207157
85Polyphagia (HP:0002591)2.03171815
86Diminished motivation (HP:0000745)2.02591208
87Lower limb amyotrophy (HP:0007210)2.00708549
88Inability to walk (HP:0002540)2.00301032
89Incomplete penetrance (HP:0003829)2.00147862
90Neuronal loss in central nervous system (HP:0002529)1.99117084
91Generalized myoclonic seizures (HP:0002123)1.98587434
92Spastic tetraplegia (HP:0002510)1.98228814
93Agitation (HP:0000713)1.97602537
94Apathy (HP:0000741)1.96518322
95Bundle branch block (HP:0011710)1.95124742
96Gait ataxia (HP:0002066)1.93984223
97Gait imbalance (HP:0002141)1.93473515
98Resting tremor (HP:0002322)1.92637012
99Choreoathetosis (HP:0001266)1.92362033
100Inappropriate behavior (HP:0000719)1.91026914
101Ankyloglossia (HP:0010296)1.90229239
102Abnormal EKG (HP:0003115)1.89836085
103Delusions (HP:0000746)1.89113105
104Rigidity (HP:0002063)1.87541862
105Turricephaly (HP:0000262)1.87172432
106Bronchomalacia (HP:0002780)1.86896391
107Pheochromocytoma (HP:0002666)1.86789693
108Degeneration of the lateral corticospinal tracts (HP:0002314)1.85525314
109Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.85525314
110CNS hypomyelination (HP:0003429)1.85407543
111Rapidly progressive (HP:0003678)1.83349529
112Sleep apnea (HP:0010535)1.81275333
113Abnormality of saccadic eye movements (HP:0000570)1.80913409
114Psychosis (HP:0000709)1.80099207
115Peripheral hypomyelination (HP:0007182)1.78824355
116Specific learning disability (HP:0001328)1.78809629
117Hypoplasia of the corpus callosum (HP:0002079)1.77758159
118Akinesia (HP:0002304)1.77349073
119Abnormality of salivation (HP:0100755)1.76302329
120Spinal canal stenosis (HP:0003416)1.72461268

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.78999878
2NTRK34.38835921
3MAP3K94.03550743
4MARK13.59860055
5MINK12.73853907
6DAPK22.68208987
7MAP3K42.56300033
8KSR22.43783247
9PAK62.39765177
10PRKD32.32114971
11NTRK22.12447550
12CAMKK12.08001241
13MAP2K72.02519052
14NTRK11.96607974
15RIPK41.79142998
16KSR11.73106212
17CDK51.65794009
18PRPF4B1.64336672
19SIK21.58571647
20MAP2K41.56532455
21DAPK11.55550130
22MAP3K121.41940627
23TNIK1.40457121
24GRK51.36417885
25ARAF1.35711655
26MAPK131.35326412
27MAP3K21.35222195
28STK381.27984612
29TYRO31.26046199
30FES1.25917302
31PNCK1.24634332
32PLK21.20983619
33TAOK11.20363942
34PRKCG1.19998107
35MAP3K131.18131834
36UHMK11.17782468
37CAMKK21.15226007
38PHKG21.13907932
39PHKG11.13907932
40CDK191.10522739
41CASK1.09271955
42LATS21.02036156
43CDK180.98573024
44CDK150.98088328
45STK110.97982844
46DYRK20.97494897
47CAMK10.96008381
48CDK140.93866055
49CAMK2A0.93508219
50CDK11A0.86357206
51PTK2B0.86283277
52SGK2230.86021414
53SGK4940.86021414
54CAMK2B0.85718244
55RAF10.85564334
56PRKCH0.84312340
57RET0.83971025
58MARK20.83086659
59ALK0.82215067
60PINK10.74387818
61PAK30.72449933
62CSNK1G20.70182823
63DYRK1A0.68968794
64SGK10.66973659
65PDK10.66630118
66OXSR10.65987065
67PDPK10.64580167
68LMTK20.64329710
69BMPR20.60773478
70RIPK10.60413524
71SGK20.60023041
72PRKCZ0.59185029
73SGK30.57437808
74MAP3K10.55989436
75FYN0.50943437
76RPS6KA30.49721311
77BRAF0.48848061
78BRSK10.48692453
79CAMK40.48142311
80LIMK10.45919757
81NEK60.45867650
82DAPK30.45053120
83TNK20.43860452
84FGR0.43601387
85CDC42BPA0.43043156
86MAPK100.42938039
87CAMK2G0.42893713
88PRKCE0.41988183
89CAMK2D0.41839224
90ROCK20.40373280
91MAP2K10.39870985
92CAMK1G0.38792310
93MAP3K70.38675629
94PKN10.38471648
95WNK10.37951144
96CSNK1A10.36851710
97CSNK1E0.36057218
98PRKCA0.35720168
99DMPK0.34276189
100ERBB20.34254106
101NEK10.33015571
102CSNK1D0.32424711
103PRKACA0.32414738
104RPS6KA20.32011459
105NME10.31807504
106MAP3K110.31412626
107FGFR20.31378907
108PRKCB0.31085153
109PRKG10.30709695
110PRKD20.29771800
111MAPK80.29653583
112MAPK120.29470708
113SCYL20.27110915
114GSK3B0.26978620
115WNK30.26652850
116RPS6KB10.24832126
117PRKDC0.23847296
118CAMK1D0.23521147

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.50018994
2Synaptic vesicle cycle_Homo sapiens_hsa047213.09217921
3Olfactory transduction_Homo sapiens_hsa047402.96569714
4Long-term potentiation_Homo sapiens_hsa047202.79095344
5Circadian entrainment_Homo sapiens_hsa047132.76012414
6Glutamatergic synapse_Homo sapiens_hsa047242.71365748
7GABAergic synapse_Homo sapiens_hsa047272.64704741
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.58036157
9Amphetamine addiction_Homo sapiens_hsa050312.53410995
10Morphine addiction_Homo sapiens_hsa050322.50841433
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.24891936
12Dopaminergic synapse_Homo sapiens_hsa047282.21328159
13Salivary secretion_Homo sapiens_hsa049702.20797553
14Cholinergic synapse_Homo sapiens_hsa047252.01849790
15Insulin secretion_Homo sapiens_hsa049111.97612058
16Gastric acid secretion_Homo sapiens_hsa049711.95595931
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.91861318
18Cocaine addiction_Homo sapiens_hsa050301.78051952
19Long-term depression_Homo sapiens_hsa047301.73650693
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.72767337
21Oxytocin signaling pathway_Homo sapiens_hsa049211.71268684
22Renin secretion_Homo sapiens_hsa049241.68553372
23Taste transduction_Homo sapiens_hsa047421.67128532
24Calcium signaling pathway_Homo sapiens_hsa040201.59689812
25Serotonergic synapse_Homo sapiens_hsa047261.59397283
26GnRH signaling pathway_Homo sapiens_hsa049121.51619212
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.46202232
28Gap junction_Homo sapiens_hsa045401.43947218
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.41793015
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.35088684
31cAMP signaling pathway_Homo sapiens_hsa040241.29062486
32Nitrogen metabolism_Homo sapiens_hsa009101.29005296
33Axon guidance_Homo sapiens_hsa043601.25032051
34Type II diabetes mellitus_Homo sapiens_hsa049301.24341387
35Glioma_Homo sapiens_hsa052141.24299715
36Vitamin B6 metabolism_Homo sapiens_hsa007501.22683580
37Estrogen signaling pathway_Homo sapiens_hsa049151.19196164
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.14819659
39ErbB signaling pathway_Homo sapiens_hsa040121.09319396
40Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.09088525
41Melanogenesis_Homo sapiens_hsa049161.07514570
42Collecting duct acid secretion_Homo sapiens_hsa049661.07071176
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.04724251
44Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.99234731
45Vascular smooth muscle contraction_Homo sapiens_hsa042700.93867857
46Phospholipase D signaling pathway_Homo sapiens_hsa040720.93706664
47Cardiac muscle contraction_Homo sapiens_hsa042600.93461264
48Oocyte meiosis_Homo sapiens_hsa041140.93340242
49Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.93186837
50Pancreatic secretion_Homo sapiens_hsa049720.87231941
51Dorso-ventral axis formation_Homo sapiens_hsa043200.84348969
52Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.82565800
53Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.79033284
54Thyroid hormone synthesis_Homo sapiens_hsa049180.78582208
55Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.78074837
56Choline metabolism in cancer_Homo sapiens_hsa052310.76951948
57VEGF signaling pathway_Homo sapiens_hsa043700.76697778
58Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.74851284
59Neurotrophin signaling pathway_Homo sapiens_hsa047220.71434622
60MAPK signaling pathway_Homo sapiens_hsa040100.71400180
61Carbohydrate digestion and absorption_Homo sapiens_hsa049730.70191285
62Phototransduction_Homo sapiens_hsa047440.70028929
63Dilated cardiomyopathy_Homo sapiens_hsa054140.67967019
64Vibrio cholerae infection_Homo sapiens_hsa051100.66991265
65Rap1 signaling pathway_Homo sapiens_hsa040150.61824470
66Ras signaling pathway_Homo sapiens_hsa040140.60067302
67Sphingolipid signaling pathway_Homo sapiens_hsa040710.59974818
68Alcoholism_Homo sapiens_hsa050340.57010995
69Endocytosis_Homo sapiens_hsa041440.56589200
70Thyroid hormone signaling pathway_Homo sapiens_hsa049190.56268631
71mTOR signaling pathway_Homo sapiens_hsa041500.54617122
72Non-small cell lung cancer_Homo sapiens_hsa052230.53902221
73Endometrial cancer_Homo sapiens_hsa052130.53808715
74Bile secretion_Homo sapiens_hsa049760.53523865
75Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.53258730
76Glucagon signaling pathway_Homo sapiens_hsa049220.53014658
77Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.50568507
78Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.47795335
79Renal cell carcinoma_Homo sapiens_hsa052110.47388257
80Prion diseases_Homo sapiens_hsa050200.46904758
81Inositol phosphate metabolism_Homo sapiens_hsa005620.44720971
82Type I diabetes mellitus_Homo sapiens_hsa049400.44682986
83Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.43541902
84Longevity regulating pathway - mammal_Homo sapiens_hsa042110.43113123
85Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.42614281
86Wnt signaling pathway_Homo sapiens_hsa043100.42189707
87Chemokine signaling pathway_Homo sapiens_hsa040620.41259959
88Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.41122788
89Hippo signaling pathway_Homo sapiens_hsa043900.40385077
90Insulin signaling pathway_Homo sapiens_hsa049100.40004274
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.39637012
92Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.38330995
93African trypanosomiasis_Homo sapiens_hsa051430.37079034
94Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.36305371
95Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.34328865
96Ovarian steroidogenesis_Homo sapiens_hsa049130.32896892
97Circadian rhythm_Homo sapiens_hsa047100.31527911
98Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.31336725
99Tight junction_Homo sapiens_hsa045300.29990102
100Arginine and proline metabolism_Homo sapiens_hsa003300.29927808
101Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.28412884
102Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.27818078
103Colorectal cancer_Homo sapiens_hsa052100.27109261
104Alzheimers disease_Homo sapiens_hsa050100.25764521
105SNARE interactions in vesicular transport_Homo sapiens_hsa041300.25574760
106Platelet activation_Homo sapiens_hsa046110.24270326
107AMPK signaling pathway_Homo sapiens_hsa041520.23013049
108Histidine metabolism_Homo sapiens_hsa003400.22425616
109Arginine biosynthesis_Homo sapiens_hsa002200.17228735
110Fatty acid biosynthesis_Homo sapiens_hsa000610.15905994
111Mineral absorption_Homo sapiens_hsa049780.15142266

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