RPH3A

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





Description: The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.56120024
2synaptic vesicle maturation (GO:0016188)6.53444603
3locomotory exploration behavior (GO:0035641)6.03348429
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.77648292
5synaptic vesicle exocytosis (GO:0016079)5.74689954
6glutamate secretion (GO:0014047)5.71514986
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.69732304
8vocalization behavior (GO:0071625)5.53993505
9regulation of synaptic vesicle exocytosis (GO:2000300)5.46292081
10synaptic vesicle docking involved in exocytosis (GO:0016081)5.40999393
11neuronal action potential propagation (GO:0019227)5.30780260
12regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.20143845
13neurotransmitter secretion (GO:0007269)4.94838451
14regulation of synaptic vesicle transport (GO:1902803)4.89664944
15regulation of glutamate receptor signaling pathway (GO:1900449)4.88765585
16ionotropic glutamate receptor signaling pathway (GO:0035235)4.68717064
17protein localization to synapse (GO:0035418)4.62706987
18amino acid import (GO:0043090)4.60610616
19regulation of neuronal synaptic plasticity (GO:0048168)4.57488125
20exploration behavior (GO:0035640)4.53359951
21gamma-aminobutyric acid transport (GO:0015812)4.46967209
22regulation of long-term neuronal synaptic plasticity (GO:0048169)4.46135029
23cellular potassium ion homeostasis (GO:0030007)4.43646058
24synaptic transmission, glutamatergic (GO:0035249)4.25421389
25neuron cell-cell adhesion (GO:0007158)4.25142629
26sodium ion export (GO:0071436)4.19324658
27layer formation in cerebral cortex (GO:0021819)4.14640563
28regulation of synapse structural plasticity (GO:0051823)4.14610279
29regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.10643688
30glutamate receptor signaling pathway (GO:0007215)4.10076175
31membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.09344597
32proline transport (GO:0015824)4.08450293
33positive regulation of dendritic spine development (GO:0060999)4.06078229
34neuron-neuron synaptic transmission (GO:0007270)4.03987344
35glycine transport (GO:0015816)4.03964056
36neurotransmitter transport (GO:0006836)4.00734547
37neuromuscular process controlling posture (GO:0050884)4.00136937
38cerebellar Purkinje cell differentiation (GO:0021702)3.98172972
39long-term memory (GO:0007616)3.95732700
40regulation of synapse maturation (GO:0090128)3.94874403
41neurotransmitter-gated ion channel clustering (GO:0072578)3.92992810
42axon ensheathment in central nervous system (GO:0032291)3.91721972
43central nervous system myelination (GO:0022010)3.91721972
44positive regulation of membrane potential (GO:0045838)3.86630359
45regulation of excitatory postsynaptic membrane potential (GO:0060079)3.80077320
46dendritic spine morphogenesis (GO:0060997)3.78263597
47negative regulation of dendrite morphogenesis (GO:0050774)3.77659789
48regulation of neurotransmitter levels (GO:0001505)3.70518580
49positive regulation of dendritic spine morphogenesis (GO:0061003)3.66755091
50regulation of neurotransmitter secretion (GO:0046928)3.65767270
51neuromuscular process controlling balance (GO:0050885)3.62937023
52activation of protein kinase A activity (GO:0034199)3.62145200
53cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.61852591
54regulation of postsynaptic membrane potential (GO:0060078)3.61632283
55regulation of synaptic plasticity (GO:0048167)3.61153003
56synaptic vesicle endocytosis (GO:0048488)3.60343371
57regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.57514930
58positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.57320336
59negative regulation of synaptic transmission, GABAergic (GO:0032229)3.56370799
60positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.55739980
61regulation of dendritic spine development (GO:0060998)3.54340701
62regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.53364396
63positive regulation of synapse maturation (GO:0090129)3.48015510
64L-amino acid import (GO:0043092)3.46348880
65transmission of nerve impulse (GO:0019226)3.43064260
66membrane depolarization during action potential (GO:0086010)3.42310084
67regulation of neurotransmitter transport (GO:0051588)3.40375185
68acidic amino acid transport (GO:0015800)3.39580452
69serotonin metabolic process (GO:0042428)3.39527093
70neurotransmitter uptake (GO:0001504)3.39515624
71gamma-aminobutyric acid signaling pathway (GO:0007214)3.38106620
72long-term synaptic potentiation (GO:0060291)3.37630252
73cell communication by electrical coupling (GO:0010644)3.37001102
74neuromuscular synaptic transmission (GO:0007274)3.34680747
75regulation of synaptic transmission, glutamatergic (GO:0051966)3.32746750
76regulation of vesicle fusion (GO:0031338)3.30777158
77membrane hyperpolarization (GO:0060081)3.29657441
78positive regulation of synaptic transmission, GABAergic (GO:0032230)3.29349771
79vesicle docking involved in exocytosis (GO:0006904)3.29306959
80regulation of dendritic spine morphogenesis (GO:0061001)3.27190886
81membrane depolarization (GO:0051899)3.25371739
82regulation of exocytosis (GO:0017157)3.24326493
83establishment of synaptic vesicle localization (GO:0097480)3.22470389
84synaptic vesicle transport (GO:0048489)3.22470389
85positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.20763706
86positive regulation of neurotransmitter transport (GO:0051590)3.20404970
87potassium ion import (GO:0010107)3.19650871
88G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.18505155
89dendritic spine organization (GO:0097061)3.16417157
90response to auditory stimulus (GO:0010996)3.16312767
91neuron recognition (GO:0008038)3.15895616
92prepulse inhibition (GO:0060134)3.15193813
93G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.14713218
94chemosensory behavior (GO:0007635)3.13178513
95neuromuscular process (GO:0050905)3.12977413
96auditory behavior (GO:0031223)3.12700606
97neuronal ion channel clustering (GO:0045161)3.10829431
98regulation of ARF protein signal transduction (GO:0032012)3.10811458
99cerebellar granule cell differentiation (GO:0021707)3.10349872
100cell differentiation in hindbrain (GO:0021533)3.10015413
101synaptic transmission (GO:0007268)3.09187987
102primary amino compound metabolic process (GO:1901160)3.08966958
103positive regulation of neurotransmitter secretion (GO:0001956)3.08792875
104vesicle transport along microtubule (GO:0047496)3.08593225
105regulation of synaptic transmission (GO:0050804)3.08115758
106adult walking behavior (GO:0007628)3.07841606
107negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.06699598
108acid secretion (GO:0046717)3.05232564
109regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.05159139
110positive regulation of synaptic transmission (GO:0050806)3.05039818
111detection of calcium ion (GO:0005513)3.04596317
112signal release (GO:0023061)3.04190103
113dendrite morphogenesis (GO:0048813)3.04183198
114regulation of voltage-gated calcium channel activity (GO:1901385)3.03951088
115positive regulation of potassium ion transmembrane transport (GO:1901381)3.00645882
116potassium ion homeostasis (GO:0055075)3.00440282
117postsynaptic membrane organization (GO:0001941)2.99818632
118learning (GO:0007612)2.97125404
119calcium ion-dependent exocytosis (GO:0017156)2.95339738
120intraspecies interaction between organisms (GO:0051703)2.94077208
121social behavior (GO:0035176)2.94077208
122cellular sodium ion homeostasis (GO:0006883)2.93395348
123regulation of clathrin-mediated endocytosis (GO:2000369)2.92372831
124innervation (GO:0060384)2.91122136

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.05555242
2GBX2_23144817_ChIP-Seq_PC3_Human3.21402901
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.13665325
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.08410551
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.05038951
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.81924137
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.81808426
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.81808426
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.68338546
10RARB_27405468_Chip-Seq_BRAIN_Mouse2.67006726
11DROSHA_22980978_ChIP-Seq_HELA_Human2.66551427
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.58742187
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.57709038
14* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.56426443
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.49191411
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.46100790
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.38901450
18* REST_18959480_ChIP-ChIP_MESCs_Mouse2.32983057
19IKZF1_21737484_ChIP-ChIP_HCT116_Human2.31057122
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.27575461
21* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.26722613
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.22215978
23THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.21246943
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.20113245
25EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.10054321
26MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.09887279
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.99210349
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.98424355
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.84305441
30AR_21572438_ChIP-Seq_LNCaP_Human1.77661930
31ERG_21242973_ChIP-ChIP_JURKAT_Human1.64829548
32GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.63266890
33SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.61911894
34* SMAD4_21799915_ChIP-Seq_A2780_Human1.57331202
35CTBP2_25329375_ChIP-Seq_LNCAP_Human1.55973184
36TAF15_26573619_Chip-Seq_HEK293_Human1.51057696
37* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.42001763
38CTBP1_25329375_ChIP-Seq_LNCAP_Human1.38245947
39SMAD_19615063_ChIP-ChIP_OVARY_Human1.37988962
40DNAJC2_21179169_ChIP-ChIP_NT2_Human1.31199484
41RING1B_27294783_Chip-Seq_ESCs_Mouse1.30079040
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.28728587
43* SOX2_21211035_ChIP-Seq_LN229_Gbm1.26141340
44NR3C1_23031785_ChIP-Seq_PC12_Mouse1.25992406
45ZNF274_21170338_ChIP-Seq_K562_Hela1.24016539
46SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.23853300
47PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.22931073
48* AR_19668381_ChIP-Seq_PC3_Human1.22443170
49KDM2B_26808549_Chip-Seq_K562_Human1.21377970
50ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.19084403
51* STAT3_23295773_ChIP-Seq_U87_Human1.18591481
52AR_25329375_ChIP-Seq_VCAP_Human1.17242968
53WT1_25993318_ChIP-Seq_PODOCYTE_Human1.17173754
54TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.15333218
55RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.15222729
56* P300_19829295_ChIP-Seq_ESCs_Human1.14817983
57ZFP57_27257070_Chip-Seq_ESCs_Mouse1.14604774
58EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.11603776
59GATA1_26923725_Chip-Seq_HPCs_Mouse1.10764318
60P53_22127205_ChIP-Seq_FIBROBLAST_Human1.10130642
61* SMAD3_21741376_ChIP-Seq_EPCs_Human1.09028140
62ZFP281_18757296_ChIP-ChIP_E14_Mouse1.05500221
63CDX2_19796622_ChIP-Seq_MESCs_Mouse1.05396676
64TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.05087122
65RING1B_27294783_Chip-Seq_NPCs_Mouse1.04702508
66TOP2B_26459242_ChIP-Seq_MCF-7_Human1.03959746
67RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.03742029
68BMI1_23680149_ChIP-Seq_NPCS_Mouse1.03169612
69TCF4_23295773_ChIP-Seq_U87_Human1.03151732
70TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.02909817
71CBX2_27304074_Chip-Seq_ESCs_Mouse1.02532801
72ZNF217_24962896_ChIP-Seq_MCF-7_Human1.02139073
73OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.01055298
74OCT4_19829295_ChIP-Seq_ESCs_Human1.00897627
75WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.00618282
76GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00321696
77MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00154441
78SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.99015977
79ARNT_22903824_ChIP-Seq_MCF-7_Human0.98485218
80CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.98402615
81SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.98330299
82* YAP1_20516196_ChIP-Seq_MESCs_Mouse0.98293261
83GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.98113389
84PIAS1_25552417_ChIP-Seq_VCAP_Human0.96543015
85AHR_22903824_ChIP-Seq_MCF-7_Human0.96242421
86RNF2_27304074_Chip-Seq_NSC_Mouse0.95748410
87SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95604708
88SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.95134710
89SMAD3_21741376_ChIP-Seq_ESCs_Human0.94534820
90PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.92434638
91IGF1R_20145208_ChIP-Seq_DFB_Human0.92298915
92CTNNB1_20460455_ChIP-Seq_HCT116_Human0.92153946
93POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.91755147
94TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91755147
95SMAD4_21741376_ChIP-Seq_HESCs_Human0.91548283
96OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.91217926
97PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.91155808
98AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.90676041
99DPY_21335234_ChIP-Seq_ESCs_Mouse0.89629974
100* TET1_21490601_ChIP-Seq_MESCs_Mouse0.89564790
101SMAD3_21741376_ChIP-Seq_HESCs_Human0.89399602
102TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.89077675
103KLF4_19829295_ChIP-Seq_ESCs_Human0.88674590
104RXR_22108803_ChIP-Seq_LS180_Human0.87108215
105* RUNX2_22187159_ChIP-Seq_PCA_Human0.86767090
106PRDM14_20953172_ChIP-Seq_ESCs_Human0.86619700
107NR3C1_21868756_ChIP-Seq_MCF10A_Human0.84900439
108CTCF_27219007_Chip-Seq_Bcells_Human0.84782490
109CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83556942
110TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82573884
111VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.82285050
112ZFP281_27345836_Chip-Seq_ESCs_Mouse0.81859804
113TP53_16413492_ChIP-PET_HCT116_Human0.80421113
114ESR2_21235772_ChIP-Seq_MCF-7_Human0.79366360
115* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.78769781
116LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.78315703
117SMC4_20622854_ChIP-Seq_HELA_Human0.77185378
118KDM2B_26808549_Chip-Seq_SUP-B15_Human0.76878070
119BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.76486611
120SMAD4_21741376_ChIP-Seq_ESCs_Human0.75167879
121LXR_22292898_ChIP-Seq_THP-1_Human0.73460976
122KDM2B_26808549_Chip-Seq_REH_Human0.72026943

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.79592108
2MP0003880_abnormal_central_pattern4.72658558
3MP0003635_abnormal_synaptic_transmissio4.28879310
4MP0004270_analgesia3.76657925
5MP0009046_muscle_twitch3.57948194
6MP0009745_abnormal_behavioral_response3.48155281
7MP0002064_seizures3.36082223
8MP0001968_abnormal_touch/_nociception3.28179084
9MP0002063_abnormal_learning/memory/cond3.27580536
10MP0005423_abnormal_somatic_nervous2.98174494
11MP0002734_abnormal_mechanical_nocicepti2.85231728
12MP0002272_abnormal_nervous_system2.82160591
13MP0002572_abnormal_emotion/affect_behav2.76175220
14MP0002822_catalepsy2.67373652
15MP0001486_abnormal_startle_reflex2.67135540
16MP0002736_abnormal_nociception_after2.57459744
17MP0002735_abnormal_chemical_nociception2.46903457
18MP0001501_abnormal_sleep_pattern2.37498873
19MP0008569_lethality_at_weaning2.26418365
20MP0002733_abnormal_thermal_nociception2.19411929
21MP0001970_abnormal_pain_threshold2.14869277
22MP0002067_abnormal_sensory_capabilities2.12490773
23MP0001440_abnormal_grooming_behavior2.09146478
24MP0004858_abnormal_nervous_system1.89215400
25MP0002184_abnormal_innervation1.83062739
26MP0004811_abnormal_neuron_physiology1.82917343
27MP0003329_amyloid_beta_deposits1.82684253
28MP0009780_abnormal_chondrocyte_physiolo1.73211038
29MP0002557_abnormal_social/conspecific_i1.70486054
30MP0002909_abnormal_adrenal_gland1.69513354
31MP0005386_behavior/neurological_phenoty1.69478300
32MP0004924_abnormal_behavior1.69478300
33MP0003879_abnormal_hair_cell1.65790881
34MP0000955_abnormal_spinal_cord1.62944574
35MP0005646_abnormal_pituitary_gland1.61032378
36MP0006276_abnormal_autonomic_nervous1.56378359
37MP0000778_abnormal_nervous_system1.54610705
38MP0004885_abnormal_endolymph1.52477995
39MP0003787_abnormal_imprinting1.51740413
40MP0002066_abnormal_motor_capabilities/c1.47685025
41MP0004142_abnormal_muscle_tone1.45903893
42MP0003633_abnormal_nervous_system1.45883411
43MP0001984_abnormal_olfaction1.44227605
44MP0002882_abnormal_neuron_morphology1.43412005
45MP0003123_paternal_imprinting1.34882096
46MP0001502_abnormal_circadian_rhythm1.25841753
47MP0003631_nervous_system_phenotype1.23878250
48MP0005645_abnormal_hypothalamus_physiol1.21895538
49MP0001905_abnormal_dopamine_level1.12131210
50MP0008872_abnormal_physiological_respon1.10070644
51MP0002229_neurodegeneration1.08316267
52MP0003122_maternal_imprinting1.08254762
53MP0008877_abnormal_DNA_methylation1.07697544
54MP0001986_abnormal_taste_sensitivity1.07557778
55MP0002152_abnormal_brain_morphology1.04969038
56MP0000569_abnormal_digit_pigmentation1.04869203
57MP0004145_abnormal_muscle_electrophysio1.04641575
58MP0004147_increased_porphyrin_level1.04478007
59MP0003690_abnormal_glial_cell1.03974628
60MP0001529_abnormal_vocalization1.00106109
61MP0000751_myopathy0.98573254
62MP0005551_abnormal_eye_electrophysiolog0.97487888
63MP0004742_abnormal_vestibular_system0.95012463
64MP0008874_decreased_physiological_sensi0.94745593
65MP0000920_abnormal_myelination0.94295510
66MP0003632_abnormal_nervous_system0.91955841
67MP0001177_atelectasis0.91016151
68MP0002069_abnormal_eating/drinking_beha0.90999938
69MP0008961_abnormal_basal_metabolism0.90366055
70MP0003075_altered_response_to0.88040705
71MP0001348_abnormal_lacrimal_gland0.86119689
72MP0003634_abnormal_glial_cell0.86045731
73MP0003283_abnormal_digestive_organ0.84739605
74MP0001963_abnormal_hearing_physiology0.83109861
75MP0005535_abnormal_body_temperature0.80743326
76MP0000013_abnormal_adipose_tissue0.80412589
77MP0000604_amyloidosis0.79277925
78MP0001188_hyperpigmentation0.78369584
79MP0004085_abnormal_heartbeat0.77871439
80MP0002752_abnormal_somatic_nervous0.75026110
81MP0005167_abnormal_blood-brain_barrier0.73733558
82MP0010386_abnormal_urinary_bladder0.73329436
83MP0005499_abnormal_olfactory_system0.69424059
84MP0005394_taste/olfaction_phenotype0.69424059
85MP0002090_abnormal_vision0.69341408
86MP0001485_abnormal_pinna_reflex0.68690922
87MP0004215_abnormal_myocardial_fiber0.66927315
88MP0001346_abnormal_lacrimal_gland0.65739887
89MP0002638_abnormal_pupillary_reflex0.65157897
90MP0004510_myositis0.65017779
91MP0001299_abnormal_eye_distance/0.62890843
92MP0004484_altered_response_of0.62713444
93MP0003172_abnormal_lysosome_physiology0.62497026
94MP0003137_abnormal_impulse_conducting0.60553373
95MP0003121_genomic_imprinting0.59795801
96MP0004130_abnormal_muscle_cell0.59717932
97MP0005623_abnormal_meninges_morphology0.58971298
98MP0004043_abnormal_pH_regulation0.58633255
99MP0003183_abnormal_peptide_metabolism0.56595031
100MP0001664_abnormal_digestion0.55316301
101MP0010769_abnormal_survival0.54866027
102MP0000631_abnormal_neuroendocrine_gland0.54686749
103MP0001943_abnormal_respiration0.52053089
104MP0002082_postnatal_lethality0.51625168
105MP0010770_preweaning_lethality0.51625168
106MP0010768_mortality/aging0.51286455
107MP0002837_dystrophic_cardiac_calcinosis0.51245893
108MP0003956_abnormal_body_size0.50304191
109MP0000026_abnormal_inner_ear0.48392921
110MP0004233_abnormal_muscle_weight0.47909423
111MP0005166_decreased_susceptibility_to0.47126365
112MP0003045_fibrosis0.46687773
113MP0001765_abnormal_ion_homeostasis0.43917311
114* MP0002873_normal_phenotype0.41152972

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.94633624
2Myokymia (HP:0002411)7.53510238
3Focal seizures (HP:0007359)5.96447485
4Visual hallucinations (HP:0002367)5.65225596
5Progressive cerebellar ataxia (HP:0002073)5.01253351
6Action tremor (HP:0002345)4.92597068
7Atonic seizures (HP:0010819)4.90742205
8Febrile seizures (HP:0002373)4.87214092
9Epileptic encephalopathy (HP:0200134)4.72822739
10Absence seizures (HP:0002121)4.19502056
11Generalized tonic-clonic seizures (HP:0002069)4.02172212
12Supranuclear gaze palsy (HP:0000605)3.85050137
13Dialeptic seizures (HP:0011146)3.80933840
14Gaze-evoked nystagmus (HP:0000640)3.77693086
15Ankle clonus (HP:0011448)3.66904247
16Cerebral hypomyelination (HP:0006808)3.56229162
17Dysdiadochokinesis (HP:0002075)3.51545353
18Depression (HP:0000716)3.41287695
19Impaired vibration sensation in the lower limbs (HP:0002166)3.40360206
20Poor eye contact (HP:0000817)3.39564791
21Broad-based gait (HP:0002136)3.34666076
22Dysmetria (HP:0001310)3.33768762
23Postural instability (HP:0002172)3.25350802
24Urinary bladder sphincter dysfunction (HP:0002839)3.23059804
25Abnormal eating behavior (HP:0100738)3.18935386
26Truncal ataxia (HP:0002078)3.18029208
27Abnormal social behavior (HP:0012433)3.12685445
28Impaired social interactions (HP:0000735)3.12685445
29Anxiety (HP:0000739)3.05742443
30Genetic anticipation (HP:0003743)3.03496487
31Mutism (HP:0002300)2.99924696
32Impaired smooth pursuit (HP:0007772)2.95458908
33Scanning speech (HP:0002168)2.95405989
34Papilledema (HP:0001085)2.94707027
35Ventricular fibrillation (HP:0001663)2.94148637
36Hemiplegia (HP:0002301)2.93443568
37Abnormality of the lower motor neuron (HP:0002366)2.90146622
38Intention tremor (HP:0002080)2.83988150
39Urinary urgency (HP:0000012)2.79403979
40Dysmetric saccades (HP:0000641)2.72118907
41Amblyopia (HP:0000646)2.71918478
42Torticollis (HP:0000473)2.69363338
43Spastic gait (HP:0002064)2.66932955
44Abnormality of ocular smooth pursuit (HP:0000617)2.66203998
45Progressive inability to walk (HP:0002505)2.63430004
46Akinesia (HP:0002304)2.62930099
47Apathy (HP:0000741)2.61128900
48Annular pancreas (HP:0001734)2.58424944
49Hyperventilation (HP:0002883)2.56796627
50Bradykinesia (HP:0002067)2.56498521
51Focal dystonia (HP:0004373)2.54695859
52Status epilepticus (HP:0002133)2.54420353
53Hemiparesis (HP:0001269)2.53997887
54Diplopia (HP:0000651)2.49195825
55Abnormality of binocular vision (HP:0011514)2.49195825
56Sleep apnea (HP:0010535)2.46613780
57Spastic tetraparesis (HP:0001285)2.40692106
58Pheochromocytoma (HP:0002666)2.39919962
59Impaired vibratory sensation (HP:0002495)2.37303114
60Diminished motivation (HP:0000745)2.35498951
61Termporal pattern (HP:0011008)2.35442681
62Insidious onset (HP:0003587)2.35442681
63Fetal akinesia sequence (HP:0001989)2.35097346
64Stereotypic behavior (HP:0000733)2.34947774
65Bundle branch block (HP:0011710)2.33030559
66Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.28956368
67Degeneration of the lateral corticospinal tracts (HP:0002314)2.28956368
68Craniofacial dystonia (HP:0012179)2.25231074
69CNS hypomyelination (HP:0003429)2.24990699
70Drooling (HP:0002307)2.22444046
71Excessive salivation (HP:0003781)2.22444046
72Megalencephaly (HP:0001355)2.20545274
73Abnormality of saccadic eye movements (HP:0000570)2.20419666
74Choreoathetosis (HP:0001266)2.17608537
75Pointed chin (HP:0000307)2.16705886
76Increased circulating renin level (HP:0000848)2.16373025
77Insomnia (HP:0100785)2.15305161
78Lower limb muscle weakness (HP:0007340)2.14046500
79Epileptiform EEG discharges (HP:0011182)2.12664261
80Absent speech (HP:0001344)2.12408615
81Peripheral hypomyelination (HP:0007182)2.12202321
82Morphological abnormality of the pyramidal tract (HP:0002062)2.10119522
83Gait ataxia (HP:0002066)2.08729891
84EEG with generalized epileptiform discharges (HP:0011198)2.07442123
85Limb dystonia (HP:0002451)2.07329205
86Abnormality of the corticospinal tract (HP:0002492)2.06039118
87Memory impairment (HP:0002354)2.05801161
88Neurofibrillary tangles (HP:0002185)2.04503279
89Generalized myoclonic seizures (HP:0002123)2.04244616
90Incomplete penetrance (HP:0003829)2.03585041
91Agitation (HP:0000713)2.02852365
92Neuroendocrine neoplasm (HP:0100634)2.02737869
93Clonus (HP:0002169)2.01166783
94Hypsarrhythmia (HP:0002521)1.99476968
95Inability to walk (HP:0002540)1.96324878
96Postural tremor (HP:0002174)1.95294836
97Neuronal loss in central nervous system (HP:0002529)1.94024914
98Failure to thrive in infancy (HP:0001531)1.92851158
99Resting tremor (HP:0002322)1.92035959
100Rigidity (HP:0002063)1.91445440
101Cerebral inclusion bodies (HP:0100314)1.91246765
102Tetraplegia (HP:0002445)1.90709896
103Amyotrophic lateral sclerosis (HP:0007354)1.88160074
104Polyphagia (HP:0002591)1.85744032
105Obstructive sleep apnea (HP:0002870)1.85254849
106Lower limb asymmetry (HP:0100559)1.84321428
107Spinal canal stenosis (HP:0003416)1.81600021
108Delusions (HP:0000746)1.80726772
109Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.80018176
110Abnormal EKG (HP:0003115)1.79867750
111Psychosis (HP:0000709)1.78582997
112Rapidly progressive (HP:0003678)1.76640485
113Unsteady gait (HP:0002317)1.76250415
114Split foot (HP:0001839)1.75233784
115Neoplasm of the peripheral nervous system (HP:0100007)1.72499575
116Blue irides (HP:0000635)1.72312190
117Iris hypopigmentation (HP:0007730)1.72171690
118Spastic tetraplegia (HP:0002510)1.70690349
119Ocular albinism (HP:0001107)1.70273751

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.43352872
2MAP3K94.04126469
3EPHA43.67256646
4MAP3K43.13666268
5MINK12.83870316
6MAP2K72.62713451
7DAPK22.59453488
8PAK62.58978147
9PRKD32.28350394
10MARK12.28245536
11KSR22.25615388
12CAMKK12.17921149
13MAP3K122.15173227
14MAP2K42.07933608
15NTRK22.00995696
16NTRK11.92277655
17STK381.82491637
18RIPK41.81463087
19CDK191.60959021
20GRK51.60188667
21CDK51.52888936
22CAMKK21.48127088
23DAPK11.42619775
24PLK21.37328427
25ARAF1.37059827
26KSR11.33865940
27CASK1.30346416
28TNIK1.28355833
29UHMK11.27000057
30PRPF4B1.26690711
31PINK11.23857133
32MAPK131.23023649
33PRKCG1.21690170
34TAOK11.21452143
35LATS21.21214840
36SIK21.19762427
37MAP3K21.18939376
38FES1.16143666
39MAP3K131.14788087
40TYRO31.13387309
41SGK4941.08341545
42SGK2231.08341545
43LMTK21.07682909
44PNCK1.06337140
45CAMK11.05025790
46PRKCH1.03192840
47WNK11.00911987
48STK110.97576838
49RET0.95973214
50SGK20.94049115
51CDK180.91877991
52CDK150.90974074
53ALK0.87682666
54CAMK2A0.86956474
55SGK30.86893047
56PHKG10.84888197
57PHKG20.84888197
58CDK140.84827594
59OXSR10.84472272
60TNK20.83271046
61CDK11A0.79816544
62MAPK120.79555300
63RAF10.74437014
64PKN10.73066945
65PDK10.72691957
66MAP3K10.69676125
67RIPK10.69496650
68CAMK2B0.67759875
69PTK2B0.67036690
70PDPK10.66006506
71PAK30.65713590
72SGK10.65708033
73MAP3K110.62965252
74CDC42BPA0.59868372
75BRSK10.59601231
76NEK10.58691744
77MARK20.58214280
78BMPR20.57643247
79CAMK1G0.57068534
80DYRK1A0.56734938
81CAMK2G0.56424718
82CAMK40.55189203
83RPS6KA30.51821960
84CSNK1G20.50822468
85NEK60.50177142
86MAPK100.49072015
87MAPKAPK50.46032624
88CAMK2D0.44062969
89PRKCZ0.44011000
90MAP3K70.41267429
91SCYL20.40708443
92PRKCE0.40066981
93FGFR20.39088110
94FER0.38550304
95MAP2K10.38336407
96FYN0.38076868
97ROCK20.38076424
98PRKCA0.37136852
99DAPK30.36562933
100CCNB10.36036576
101MUSK0.34547993
102MAP3K60.33502388
103MAP2K60.32518049
104BRAF0.32038620
105PRKCB0.31349431
106PRKG20.30395956
107LIMK10.30177824
108ERBB20.28032341
109PRKG10.27376872
110JAK20.27178823
111PRKACA0.26022421
112IRAK20.24783924
113MAPK80.24475159

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.63965131
2Nicotine addiction_Homo sapiens_hsa050333.59834144
3Olfactory transduction_Homo sapiens_hsa047402.79376748
4GABAergic synapse_Homo sapiens_hsa047272.68799504
5Circadian entrainment_Homo sapiens_hsa047132.61506220
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.58564261
7Long-term potentiation_Homo sapiens_hsa047202.57754399
8Glutamatergic synapse_Homo sapiens_hsa047242.57243772
9Morphine addiction_Homo sapiens_hsa050322.41708947
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.37578758
11Amphetamine addiction_Homo sapiens_hsa050312.31634536
12Salivary secretion_Homo sapiens_hsa049702.18983607
13Dopaminergic synapse_Homo sapiens_hsa047282.06314132
14Insulin secretion_Homo sapiens_hsa049112.05841333
15Gastric acid secretion_Homo sapiens_hsa049711.97426880
16Cholinergic synapse_Homo sapiens_hsa047251.89056484
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.83785459
18Taste transduction_Homo sapiens_hsa047421.76175293
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.70420813
20Long-term depression_Homo sapiens_hsa047301.68976248
21Oxytocin signaling pathway_Homo sapiens_hsa049211.60103769
22Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.58899477
23Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.55490537
24Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.52737232
25Calcium signaling pathway_Homo sapiens_hsa040201.51912554
26Nitrogen metabolism_Homo sapiens_hsa009101.50655388
27Renin secretion_Homo sapiens_hsa049241.49955143
28Serotonergic synapse_Homo sapiens_hsa047261.49005627
29Cocaine addiction_Homo sapiens_hsa050301.47516578
30GnRH signaling pathway_Homo sapiens_hsa049121.47040532
31Collecting duct acid secretion_Homo sapiens_hsa049661.44797940
32Vitamin B6 metabolism_Homo sapiens_hsa007501.43477474
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.36885915
34cAMP signaling pathway_Homo sapiens_hsa040241.27599882
35Type II diabetes mellitus_Homo sapiens_hsa049301.26109781
36Phosphatidylinositol signaling system_Homo sapiens_hsa040701.25825495
37Gap junction_Homo sapiens_hsa045401.25326849
38Glioma_Homo sapiens_hsa052141.13123683
39Estrogen signaling pathway_Homo sapiens_hsa049151.12776455
40ErbB signaling pathway_Homo sapiens_hsa040121.02463427
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.00514232
42cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98391406
43Cardiac muscle contraction_Homo sapiens_hsa042600.97236319
44Melanogenesis_Homo sapiens_hsa049160.95373458
45Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.92680347
46Dorso-ventral axis formation_Homo sapiens_hsa043200.90028666
47Pancreatic secretion_Homo sapiens_hsa049720.89072362
48Oocyte meiosis_Homo sapiens_hsa041140.88492614
49Phototransduction_Homo sapiens_hsa047440.88396703
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.87823761
51Phospholipase D signaling pathway_Homo sapiens_hsa040720.87517821
52Axon guidance_Homo sapiens_hsa043600.87477418
53Vibrio cholerae infection_Homo sapiens_hsa051100.85700771
54Thyroid hormone synthesis_Homo sapiens_hsa049180.82504830
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.82323899
56Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.81322909
57Carbohydrate digestion and absorption_Homo sapiens_hsa049730.78264783
58Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.74989748
59Choline metabolism in cancer_Homo sapiens_hsa052310.70921918
60MAPK signaling pathway_Homo sapiens_hsa040100.69855293
61Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.68925414
62Dilated cardiomyopathy_Homo sapiens_hsa054140.67440751
63Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.67390620
64Neurotrophin signaling pathway_Homo sapiens_hsa047220.67299200
65Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.63278565
66Inositol phosphate metabolism_Homo sapiens_hsa005620.61558612
67Bile secretion_Homo sapiens_hsa049760.59504447
68VEGF signaling pathway_Homo sapiens_hsa043700.58238010
69Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57669750
70Endocytosis_Homo sapiens_hsa041440.56631051
71Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.55143117
72Ras signaling pathway_Homo sapiens_hsa040140.54240822
73Type I diabetes mellitus_Homo sapiens_hsa049400.54126066
74mTOR signaling pathway_Homo sapiens_hsa041500.53622908
75Rap1 signaling pathway_Homo sapiens_hsa040150.53451581
76Sphingolipid signaling pathway_Homo sapiens_hsa040710.53253359
77Glucagon signaling pathway_Homo sapiens_hsa049220.53154779
78SNARE interactions in vesicular transport_Homo sapiens_hsa041300.48011905
79Circadian rhythm_Homo sapiens_hsa047100.47434321
80Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.45434565
81Endometrial cancer_Homo sapiens_hsa052130.42894131
82Non-small cell lung cancer_Homo sapiens_hsa052230.42696393
83Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.42108697
84Longevity regulating pathway - mammal_Homo sapiens_hsa042110.40380672
85Insulin signaling pathway_Homo sapiens_hsa049100.40241105
86Alcoholism_Homo sapiens_hsa050340.40155807
87Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.39723539
88Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.38902044
89Arginine and proline metabolism_Homo sapiens_hsa003300.37916513
90Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.37502813
91Ovarian steroidogenesis_Homo sapiens_hsa049130.37358426
92Histidine metabolism_Homo sapiens_hsa003400.37065924
93Chemokine signaling pathway_Homo sapiens_hsa040620.36122498
94Renal cell carcinoma_Homo sapiens_hsa052110.35737441
95Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.34843714
96Prion diseases_Homo sapiens_hsa050200.34353080
97Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.32409870
98Fatty acid biosynthesis_Homo sapiens_hsa000610.32395331
99Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.32266473
100Wnt signaling pathway_Homo sapiens_hsa043100.32244128
101Arginine biosynthesis_Homo sapiens_hsa002200.31628673
102Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.30596020
103Glycerophospholipid metabolism_Homo sapiens_hsa005640.30031855
104Mineral absorption_Homo sapiens_hsa049780.27960092
105African trypanosomiasis_Homo sapiens_hsa051430.26642895
106Prolactin signaling pathway_Homo sapiens_hsa049170.25882382
107Alzheimers disease_Homo sapiens_hsa050100.21496228
108beta-Alanine metabolism_Homo sapiens_hsa004100.20758339
109HIF-1 signaling pathway_Homo sapiens_hsa040660.19403002
110Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.18137499
111Regulation of autophagy_Homo sapiens_hsa041400.15716590
112Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.14272317

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