RASGRF1

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 a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.38295768
2synaptic vesicle maturation (GO:0016188)5.79362886
3locomotory exploration behavior (GO:0035641)5.65887598
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.63798817
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.47395866
6vocalization behavior (GO:0071625)5.43921575
7synaptic vesicle exocytosis (GO:0016079)5.33442235
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.21067037
9glutamate secretion (GO:0014047)5.18501230
10ionotropic glutamate receptor signaling pathway (GO:0035235)5.09372791
11regulation of synaptic vesicle exocytosis (GO:2000300)5.03776891
12synaptic vesicle docking involved in exocytosis (GO:0016081)4.95546349
13cerebellar granule cell differentiation (GO:0021707)4.85108441
14* regulation of glutamate receptor signaling pathway (GO:1900449)4.81009634
15neuronal action potential propagation (GO:0019227)4.80859049
16neurotransmitter secretion (GO:0007269)4.59310727
17regulation of synaptic vesicle transport (GO:1902803)4.57706437
18glutamate receptor signaling pathway (GO:0007215)4.51774086
19protein localization to synapse (GO:0035418)4.51164072
20exploration behavior (GO:0035640)4.46925051
21synaptic transmission, glutamatergic (GO:0035249)4.45105756
22regulation of long-term neuronal synaptic plasticity (GO:0048169)4.42562526
23* regulation of neuronal synaptic plasticity (GO:0048168)4.41570092
24neuron cell-cell adhesion (GO:0007158)4.29580700
25neuron-neuron synaptic transmission (GO:0007270)4.19738967
26neurotransmitter-gated ion channel clustering (GO:0072578)4.18688393
27neuromuscular process controlling posture (GO:0050884)4.18320725
28* regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.18209519
29potassium ion homeostasis (GO:0055075)4.17591824
30membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.12466051
31amino acid import (GO:0043090)4.12040347
32gamma-aminobutyric acid transport (GO:0015812)4.11043030
33potassium ion import (GO:0010107)4.00724481
34negative regulation of dendrite morphogenesis (GO:0050774)4.00326041
35regulation of excitatory postsynaptic membrane potential (GO:0060079)3.90710648
36cellular potassium ion homeostasis (GO:0030007)3.90250686
37positive regulation of membrane potential (GO:0045838)3.88063749
38* long-term memory (GO:0007616)3.80245485
39neurotransmitter transport (GO:0006836)3.79623665
40axon ensheathment in central nervous system (GO:0032291)3.78977640
41central nervous system myelination (GO:0022010)3.78977640
42cerebellar Purkinje cell differentiation (GO:0021702)3.77605190
43regulation of ARF protein signal transduction (GO:0032012)3.76951972
44proline transport (GO:0015824)3.76122735
45regulation of synapse structural plasticity (GO:0051823)3.75688474
46regulation of postsynaptic membrane potential (GO:0060078)3.73803966
47regulation of voltage-gated calcium channel activity (GO:1901385)3.72661169
48gamma-aminobutyric acid signaling pathway (GO:0007214)3.70753808
49positive regulation of dendritic spine development (GO:0060999)3.69770383
50* regulation of synaptic plasticity (GO:0048167)3.65960433
51long-term synaptic potentiation (GO:0060291)3.65490876
52dendritic spine morphogenesis (GO:0060997)3.64237547
53regulation of synapse maturation (GO:0090128)3.60830561
54cellular sodium ion homeostasis (GO:0006883)3.57547611
55regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.57381766
56activation of protein kinase A activity (GO:0034199)3.55966242
57negative regulation of synaptic transmission, GABAergic (GO:0032229)3.54814263
58cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.54418151
59transmission of nerve impulse (GO:0019226)3.53992000
60regulation of neurotransmitter levels (GO:0001505)3.50137021
61regulation of synaptic transmission, glutamatergic (GO:0051966)3.49071981
62sodium ion export (GO:0071436)3.48044029
63synaptic vesicle endocytosis (GO:0048488)3.46625502
64positive regulation of synapse maturation (GO:0090129)3.45703802
65startle response (GO:0001964)3.44606541
66positive regulation of synaptic transmission, GABAergic (GO:0032230)3.42947659
67G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.41758827
68postsynaptic membrane organization (GO:0001941)3.41184632
69regulation of dendritic spine development (GO:0060998)3.40611448
70membrane depolarization during action potential (GO:0086010)3.37799192
71positive regulation of dendritic spine morphogenesis (GO:0061003)3.37047433
72regulation of neurotransmitter secretion (GO:0046928)3.36891130
73regulation of vesicle fusion (GO:0031338)3.36223304
74behavioral fear response (GO:0001662)3.35283568
75behavioral defense response (GO:0002209)3.35283568
76response to histamine (GO:0034776)3.34478080
77neuron recognition (GO:0008038)3.34424237
78positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.33770176
79presynaptic membrane assembly (GO:0097105)3.32792337
80regulation of calcium ion-dependent exocytosis (GO:0017158)3.29638308
81cell communication by electrical coupling (GO:0010644)3.27733258
82glycine transport (GO:0015816)3.27245019
83neuromuscular process controlling balance (GO:0050885)3.27048636
84membrane depolarization (GO:0051899)3.25641872
85vesicle docking involved in exocytosis (GO:0006904)3.24805941
86regulation of exocytosis (GO:0017157)3.24524155
87layer formation in cerebral cortex (GO:0021819)3.24216759
88signal release (GO:0023061)3.22928537
89neurotransmitter uptake (GO:0001504)3.21851577
90regulation of dendritic spine morphogenesis (GO:0061001)3.21223768
91chemosensory behavior (GO:0007635)3.21098869
92acidic amino acid transport (GO:0015800)3.19159601
93neuronal ion channel clustering (GO:0045161)3.17446793
94negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.16390463
95fear response (GO:0042596)3.16233765
96positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.14491485
97vesicle transport along microtubule (GO:0047496)3.14423100
98establishment of synaptic vesicle localization (GO:0097480)3.14345797
99synaptic vesicle transport (GO:0048489)3.14345797
100cerebellar Purkinje cell layer development (GO:0021680)3.13749783
101presynaptic membrane organization (GO:0097090)3.13590633
102regulation of neurotransmitter transport (GO:0051588)3.13436222
103membrane hyperpolarization (GO:0060081)3.12535958
104cytoskeletal anchoring at plasma membrane (GO:0007016)3.12501450
105L-amino acid import (GO:0043092)3.12120647
106learning (GO:0007612)3.11534410
107regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.10301746
108positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.09405020
109* regulation of synaptic transmission (GO:0050804)3.08582711
110positive regulation of synaptic transmission (GO:0050806)3.08142983
111* synaptic transmission (GO:0007268)3.06370174
112axonal fasciculation (GO:0007413)3.05989401
113neuromuscular synaptic transmission (GO:0007274)3.05542390
114innervation (GO:0060384)3.04008598
115neuromuscular process (GO:0050905)3.03466783
116positive regulation of neurotransmitter transport (GO:0051590)3.03461158
117auditory behavior (GO:0031223)3.03033906
118regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.02995575
119serotonin metabolic process (GO:0042428)3.02827070
120cell differentiation in hindbrain (GO:0021533)3.02658153
121response to auditory stimulus (GO:0010996)3.01285972
122vesicle docking (GO:0048278)3.00606343
123positive regulation of neurotransmitter secretion (GO:0001956)2.98803903
124dendritic spine organization (GO:0097061)2.98772949
125detection of calcium ion (GO:0005513)2.95335935
126intraspecies interaction between organisms (GO:0051703)2.95074307
127social behavior (GO:0035176)2.95074307

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.31486093
2GBX2_23144817_ChIP-Seq_PC3_Human3.85310072
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.10023739
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.01815108
5* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.95255038
6REST_21632747_ChIP-Seq_MESCs_Mouse2.83396289
7RARB_27405468_Chip-Seq_BRAIN_Mouse2.61493091
8* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.60771421
9* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.60588491
10* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.60588491
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.57908933
12DROSHA_22980978_ChIP-Seq_HELA_Human2.57114737
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.51901873
14* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.48503753
15* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.47967927
16* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.40022356
17* EZH2_27304074_Chip-Seq_ESCs_Mouse2.36432362
18REST_18959480_ChIP-ChIP_MESCs_Mouse2.30936267
19* EED_16625203_ChIP-ChIP_MESCs_Mouse2.26952493
20IKZF1_21737484_ChIP-ChIP_HCT116_Human2.24906508
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.20718659
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.19488512
23CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.10228582
24* RNF2_27304074_Chip-Seq_ESCs_Mouse2.10070912
25ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.97487561
26MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.93450786
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.88738758
28THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.85804206
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.83346401
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.81152029
31SMAD4_21799915_ChIP-Seq_A2780_Human1.77785136
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.73969435
33EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.68392079
34CTBP1_25329375_ChIP-Seq_LNCAP_Human1.67939001
35AR_21572438_ChIP-Seq_LNCaP_Human1.60185449
36TAF15_26573619_Chip-Seq_HEK293_Human1.57485402
37* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.48265814
38P300_19829295_ChIP-Seq_ESCs_Human1.42950465
39ZNF274_21170338_ChIP-Seq_K562_Hela1.42227812
40ERG_21242973_ChIP-ChIP_JURKAT_Human1.40564648
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.40523366
42TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.39912097
43STAT3_23295773_ChIP-Seq_U87_Human1.32847933
44SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.32732217
45* SOX2_21211035_ChIP-Seq_LN229_Gbm1.32546347
46SMAD3_21741376_ChIP-Seq_EPCs_Human1.32234411
47RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.30074173
48TET1_21490601_ChIP-Seq_MESCs_Mouse1.28351763
49GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.27755071
50* AR_25329375_ChIP-Seq_VCAP_Human1.27550870
51* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.27440556
52* AR_19668381_ChIP-Seq_PC3_Human1.22854184
53SMAD_19615063_ChIP-ChIP_OVARY_Human1.21057192
54* RING1B_27294783_Chip-Seq_ESCs_Mouse1.20635850
55TOP2B_26459242_ChIP-Seq_MCF-7_Human1.19876157
56IGF1R_20145208_ChIP-Seq_DFB_Human1.19431115
57KDM2B_26808549_Chip-Seq_K562_Human1.19222408
58* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.19153721
59PIAS1_25552417_ChIP-Seq_VCAP_Human1.18874628
60ZFP281_18757296_ChIP-ChIP_E14_Mouse1.18654360
61* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.16759114
62* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.16469448
63OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.16038780
64TCF4_23295773_ChIP-Seq_U87_Human1.15593170
65PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.14802212
66* CBX2_27304074_Chip-Seq_ESCs_Mouse1.13663791
67WT1_25993318_ChIP-Seq_PODOCYTE_Human1.11509142
68* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.10843307
69* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.09751859
70ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08089424
71SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.07259683
72ARNT_22903824_ChIP-Seq_MCF-7_Human1.06651258
73POU3F2_20337985_ChIP-ChIP_501MEL_Human1.03689641
74MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03182523
75P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03105315
76* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02521452
77AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.02384724
78* RNF2_27304074_Chip-Seq_NSC_Mouse1.01938449
79CTNNB1_20460455_ChIP-Seq_HCT116_Human1.01713616
80AHR_22903824_ChIP-Seq_MCF-7_Human1.01263190
81TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.01087887
82RUNX2_22187159_ChIP-Seq_PCA_Human1.00269008
83VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.99936418
84CDX2_19796622_ChIP-Seq_MESCs_Mouse0.98720314
85RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.98639900
86* NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97387133
87* RING1B_27294783_Chip-Seq_NPCs_Mouse0.95143773
88SMAD3_21741376_ChIP-Seq_ESCs_Human0.94129936
89CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.94114653
90PRDM14_20953172_ChIP-Seq_ESCs_Human0.93083644
91TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.93009442
92CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92818743
93ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.92301633
94NANOG_18555785_Chip-Seq_ESCs_Mouse0.92075871
95* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.90916692
96SMAD3_21741376_ChIP-Seq_HESCs_Human0.89889493
97FUS_26573619_Chip-Seq_HEK293_Human0.89482445
98RXR_22108803_ChIP-Seq_LS180_Human0.89395459
99BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.89333213
100* SMAD4_21741376_ChIP-Seq_HESCs_Human0.88970164
101ZFP281_27345836_Chip-Seq_ESCs_Mouse0.88880247
102TP53_16413492_ChIP-PET_HCT116_Human0.88648936
103GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88383567
104UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.88138602
105* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.87487294
106* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.86019740
107TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85882031
108SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.85682555
109LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85493929
110JUN_21703547_ChIP-Seq_K562_Human0.85027831
111TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84733668
112DPY_21335234_ChIP-Seq_ESCs_Mouse0.84212760
113CTCF_27219007_Chip-Seq_Bcells_Human0.83268423
114SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.81422656
115OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.80616824
116SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79468231
117ESR2_21235772_ChIP-Seq_MCF-7_Human0.78992085
118OCT4_19829295_ChIP-Seq_ESCs_Human0.78543401
119KDM2B_26808549_Chip-Seq_REH_Human0.78113175
120* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.77215903

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0004859_abnormal_synaptic_plasticity6.44322658
2MP0003880_abnormal_central_pattern5.09602366
3* MP0003635_abnormal_synaptic_transmissio4.28621999
4MP0009745_abnormal_behavioral_response3.65236106
5MP0004270_analgesia3.56151526
6MP0002064_seizures3.40630967
7* MP0002063_abnormal_learning/memory/cond3.35114991
8MP0009046_muscle_twitch3.32104545
9MP0002572_abnormal_emotion/affect_behav2.99211614
10MP0001968_abnormal_touch/_nociception2.91846354
11MP0002822_catalepsy2.86692854
12MP0002272_abnormal_nervous_system2.81618177
13MP0001501_abnormal_sleep_pattern2.75856041
14MP0005423_abnormal_somatic_nervous2.72727901
15MP0001486_abnormal_startle_reflex2.59842367
16MP0002734_abnormal_mechanical_nocicepti2.49357645
17MP0009780_abnormal_chondrocyte_physiolo2.23056236
18MP0002736_abnormal_nociception_after2.20414386
19MP0002735_abnormal_chemical_nociception2.18138762
20MP0001440_abnormal_grooming_behavior2.12983015
21MP0002067_abnormal_sensory_capabilities2.02116665
22MP0002909_abnormal_adrenal_gland2.01317316
23MP0008569_lethality_at_weaning1.93342635
24MP0002733_abnormal_thermal_nociception1.92374521
25MP0001970_abnormal_pain_threshold1.89925250
26MP0005645_abnormal_hypothalamus_physiol1.77007445
27MP0002557_abnormal_social/conspecific_i1.77002471
28MP0006276_abnormal_autonomic_nervous1.76707960
29MP0003879_abnormal_hair_cell1.69987071
30MP0004924_abnormal_behavior1.65729873
31MP0005386_behavior/neurological_phenoty1.65729873
32MP0002184_abnormal_innervation1.65468720
33MP0004811_abnormal_neuron_physiology1.64444174
34MP0003329_amyloid_beta_deposits1.60133748
35* MP0005646_abnormal_pituitary_gland1.50988008
36MP0004142_abnormal_muscle_tone1.49908539
37MP0001984_abnormal_olfaction1.47336035
38MP0002066_abnormal_motor_capabilities/c1.43772565
39MP0000778_abnormal_nervous_system1.43103847
40MP0000955_abnormal_spinal_cord1.42894447
41MP0004858_abnormal_nervous_system1.42323930
42MP0001502_abnormal_circadian_rhythm1.41372724
43MP0004885_abnormal_endolymph1.40163968
44MP0003633_abnormal_nervous_system1.38978467
45MP0002882_abnormal_neuron_morphology1.36597845
46MP0001905_abnormal_dopamine_level1.33461840
47MP0001188_hyperpigmentation1.25607864
48MP0003283_abnormal_digestive_organ1.23326150
49MP0001529_abnormal_vocalization1.20895576
50MP0004147_increased_porphyrin_level1.19845978
51MP0003631_nervous_system_phenotype1.14481941
52MP0000013_abnormal_adipose_tissue1.11130999
53MP0010386_abnormal_urinary_bladder1.09345505
54* MP0003122_maternal_imprinting1.03416019
55MP0004043_abnormal_pH_regulation1.01664494
56MP0002229_neurodegeneration1.01584482
57MP0002152_abnormal_brain_morphology1.00594242
58MP0002069_abnormal_eating/drinking_beha0.99832980
59MP0004145_abnormal_muscle_electrophysio0.99030265
60MP0005535_abnormal_body_temperature0.98289494
61MP0000751_myopathy0.98164856
62MP0003690_abnormal_glial_cell0.96790578
63MP0008872_abnormal_physiological_respon0.93774380
64MP0002876_abnormal_thyroid_physiology0.92985758
65MP0005551_abnormal_eye_electrophysiolog0.92457966
66MP0001986_abnormal_taste_sensitivity0.91697501
67MP0001348_abnormal_lacrimal_gland0.89726398
68MP0008961_abnormal_basal_metabolism0.88839643
69MP0004085_abnormal_heartbeat0.88828613
70MP0001177_atelectasis0.88536571
71MP0008874_decreased_physiological_sensi0.88378247
72* MP0003787_abnormal_imprinting0.84323930
73MP0001963_abnormal_hearing_physiology0.84202486
74MP0002837_dystrophic_cardiac_calcinosis0.83500219
75MP0003632_abnormal_nervous_system0.78633922
76MP0004742_abnormal_vestibular_system0.78441435
77MP0000569_abnormal_digit_pigmentation0.78255269
78MP0003634_abnormal_glial_cell0.77872895
79MP0000631_abnormal_neuroendocrine_gland0.77041893
80MP0003045_fibrosis0.74942268
81MP0010234_abnormal_vibrissa_follicle0.74055561
82MP0001485_abnormal_pinna_reflex0.73777821
83MP0003172_abnormal_lysosome_physiology0.73746834
84MP0002638_abnormal_pupillary_reflex0.73659515
85MP0005499_abnormal_olfactory_system0.72477616
86MP0005394_taste/olfaction_phenotype0.72477616
87MP0000920_abnormal_myelination0.71979352
88MP0003183_abnormal_peptide_metabolism0.71525114
89MP0004215_abnormal_myocardial_fiber0.69455802
90MP0000639_abnormal_adrenal_gland0.66232875
91MP0005167_abnormal_blood-brain_barrier0.65965420
92MP0002752_abnormal_somatic_nervous0.65259378
93MP0001664_abnormal_digestion0.64702433
94MP0001765_abnormal_ion_homeostasis0.63255810
95MP0000604_amyloidosis0.63136169
96MP0001346_abnormal_lacrimal_gland0.62760493
97MP0005409_darkened_coat_color0.61487231
98MP0004233_abnormal_muscle_weight0.59840057
99MP0004484_altered_response_of0.59392840
100MP0005171_absent_coat_pigmentation0.59311776
101* MP0003075_altered_response_to0.59145314
102MP0006072_abnormal_retinal_apoptosis0.59035305
103MP0003137_abnormal_impulse_conducting0.57956681
104MP0001943_abnormal_respiration0.54889698
105MP0002090_abnormal_vision0.54533840
106MP0004510_myositis0.54506169
107MP0010769_abnormal_survival0.54403537
108MP0001299_abnormal_eye_distance/0.53911854
109* MP0003956_abnormal_body_size0.53142293
110MP0005623_abnormal_meninges_morphology0.51949758
111MP0010768_mortality/aging0.51713689
112MP0002082_postnatal_lethality0.51571659
113MP0010770_preweaning_lethality0.51571659
114MP0005448_abnormal_energy_balance0.47167723
115MP0005379_endocrine/exocrine_gland_phen0.44916166
116MP0002693_abnormal_pancreas_physiology0.44418728

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.80059182
2Myokymia (HP:0002411)6.60948075
3Focal seizures (HP:0007359)6.15045175
4Visual hallucinations (HP:0002367)5.43840698
5Atonic seizures (HP:0010819)5.18661571
6Epileptic encephalopathy (HP:0200134)5.13005217
7Febrile seizures (HP:0002373)4.99143561
8Absence seizures (HP:0002121)4.60120538
9Progressive cerebellar ataxia (HP:0002073)4.51970833
10Dialeptic seizures (HP:0011146)4.29285548
11Generalized tonic-clonic seizures (HP:0002069)4.25796934
12Action tremor (HP:0002345)3.97830881
13Gaze-evoked nystagmus (HP:0000640)3.54171563
14Broad-based gait (HP:0002136)3.50882826
15Cerebral hypomyelination (HP:0006808)3.46527467
16Supranuclear gaze palsy (HP:0000605)3.45831858
17Hyperventilation (HP:0002883)3.43254648
18Depression (HP:0000716)3.38839686
19Impaired vibration sensation in the lower limbs (HP:0002166)3.38779562
20Tetraplegia (HP:0002445)3.26935171
21Postural instability (HP:0002172)3.25573666
22Poor eye contact (HP:0000817)3.22621789
23Anxiety (HP:0000739)3.22435505
24Dysdiadochokinesis (HP:0002075)3.21572568
25Dysmetria (HP:0001310)3.21080572
26Truncal ataxia (HP:0002078)3.19038797
27Obstructive sleep apnea (HP:0002870)3.14487634
28Ankle clonus (HP:0011448)3.13006842
29Abnormal eating behavior (HP:0100738)3.10888024
30Akinesia (HP:0002304)3.05388155
31Abnormal social behavior (HP:0012433)2.97138326
32Impaired social interactions (HP:0000735)2.97138326
33Urinary bladder sphincter dysfunction (HP:0002839)2.92287457
34Impaired smooth pursuit (HP:0007772)2.90088428
35Amblyopia (HP:0000646)2.86837342
36Genetic anticipation (HP:0003743)2.79618920
37Epileptiform EEG discharges (HP:0011182)2.75714616
38Abnormality of the lower motor neuron (HP:0002366)2.75226971
39Hemiplegia (HP:0002301)2.71163490
40Drooling (HP:0002307)2.68488680
41Excessive salivation (HP:0003781)2.68488680
42Papilledema (HP:0001085)2.64507694
43Apathy (HP:0000741)2.59922769
44Scanning speech (HP:0002168)2.58931128
45Hemiparesis (HP:0001269)2.58309351
46Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.57856628
47Bradykinesia (HP:0002067)2.57304393
48EEG with generalized epileptiform discharges (HP:0011198)2.53668155
49Progressive inability to walk (HP:0002505)2.52870304
50Mutism (HP:0002300)2.51938931
51Diplopia (HP:0000651)2.50410323
52Abnormality of binocular vision (HP:0011514)2.50410323
53Abnormality of ocular smooth pursuit (HP:0000617)2.49390803
54Ventricular fibrillation (HP:0001663)2.49031487
55Status epilepticus (HP:0002133)2.44522560
56Hypsarrhythmia (HP:0002521)2.41393448
57Intention tremor (HP:0002080)2.40959823
58Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.38832922
59Degeneration of the lateral corticospinal tracts (HP:0002314)2.38832922
60Spastic gait (HP:0002064)2.37250732
61Torticollis (HP:0000473)2.37239976
62Dysmetric saccades (HP:0000641)2.35767448
63Sleep apnea (HP:0010535)2.35384575
64Diminished motivation (HP:0000745)2.33200116
65Agitation (HP:0000713)2.32452898
66Impaired vibratory sensation (HP:0002495)2.31258577
67Absent speech (HP:0001344)2.30816660
68Increased circulating renin level (HP:0000848)2.28768285
69Choreoathetosis (HP:0001266)2.26609551
70Focal dystonia (HP:0004373)2.26302727
71Urinary urgency (HP:0000012)2.25992903
72Spastic tetraparesis (HP:0001285)2.25274541
73Stereotypic behavior (HP:0000733)2.23673194
74Decreased circulating renin level (HP:0003351)2.22780766
75CNS hypomyelination (HP:0003429)2.22567921
76Pheochromocytoma (HP:0002666)2.21911373
77Peripheral hypomyelination (HP:0007182)2.13156803
78Generalized myoclonic seizures (HP:0002123)2.12313512
79Blue irides (HP:0000635)2.10336226
80Polyphagia (HP:0002591)2.07212727
81Morphological abnormality of the pyramidal tract (HP:0002062)2.06470334
82Psychosis (HP:0000709)2.05050931
83Fetal akinesia sequence (HP:0001989)2.02387309
84Protruding tongue (HP:0010808)2.01136228
85Neurofibrillary tangles (HP:0002185)2.00458226
86Abnormal EKG (HP:0003115)1.99789221
87Lower limb muscle weakness (HP:0007340)1.99745826
88Gait ataxia (HP:0002066)1.97780091
89Lower limb asymmetry (HP:0100559)1.97205921
90Incomplete penetrance (HP:0003829)1.95861941
91Rapidly progressive (HP:0003678)1.95665428
92Cerebral inclusion bodies (HP:0100314)1.93797077
93Abnormality of saccadic eye movements (HP:0000570)1.93095760
94Inability to walk (HP:0002540)1.92328194
95Craniofacial dystonia (HP:0012179)1.92269486
96Hypoglycemic seizures (HP:0002173)1.91795013
97Hyperinsulinemic hypoglycemia (HP:0000825)1.91468527
98Neuronal loss in central nervous system (HP:0002529)1.88696387
99Failure to thrive in infancy (HP:0001531)1.88083057
100Diminished movement (HP:0002374)1.86675456
101Neuroendocrine neoplasm (HP:0100634)1.85655025
102Megalencephaly (HP:0001355)1.85349337
103Annular pancreas (HP:0001734)1.83683331
104Abnormality of salivation (HP:0100755)1.83333053
105Resting tremor (HP:0002322)1.82724473
106Memory impairment (HP:0002354)1.82344427
107Rigidity (HP:0002063)1.80789228
108Bundle branch block (HP:0011710)1.79272331
109Pointed chin (HP:0000307)1.73954189
110Clonus (HP:0002169)1.73573318
111Specific learning disability (HP:0001328)1.73555951
112Ocular albinism (HP:0001107)1.73450898
113Unsteady gait (HP:0002317)1.73394548
114Postural tremor (HP:0002174)1.72586119
115Abnormality of the corticospinal tract (HP:0002492)1.71509316
116Gait imbalance (HP:0002141)1.70052505
117Insomnia (HP:0100785)1.70048670
118Delusions (HP:0000746)1.68498551
119Spinal canal stenosis (HP:0003416)1.66241151
120Limb dystonia (HP:0002451)1.65311910
121Hypoventilation (HP:0002791)1.64225480
122Limb ataxia (HP:0002070)1.64187668

Predicted kinase interactions (KEA)

RankGene SetZ-score
1* NTRK34.53610523
2EPHA44.50319003
3MAP3K93.58819657
4MAP3K43.11963219
5MAP2K72.68436585
6MINK12.42852552
7CASK2.40844184
8MAP3K122.30051604
9DAPK22.24344251
10PRKD32.19573061
11PAK62.09747068
12NTRK22.05827850
13MAP2K41.95070057
14RIPK41.93258297
15TNIK1.91094721
16KSR21.88705877
17MARK11.86650374
18PRPF4B1.77993523
19CAMKK11.74354158
20DAPK11.64022605
21NTRK11.59966258
22STK381.59267785
23ARAF1.56077944
24MAP3K131.54242436
25CDK191.52404526
26FES1.49473319
27* CDK51.45051707
28KSR11.43987095
29PLK21.42095572
30GRK51.38817501
31PRKCG1.36549182
32RIPK11.34407815
33MAPK131.23002188
34MAP3K21.19648659
35UHMK11.17269425
36CAMK2A1.15763174
37CAMKK21.14208178
38FGFR21.13377674
39SGK2231.10711632
40SGK4941.10711632
41CAMK11.09846433
42PNCK1.07605204
43PRKCH1.06965599
44CAMK2B1.06708597
45SGK21.06202078
46SIK20.97654315
47PINK10.97317718
48AKT30.96174071
49FRK0.95601342
50TNK20.91507870
51SGK30.89526801
52BMPR20.88091246
53OXSR10.85924741
54PTK2B0.85308737
55MAPK120.84679893
56MAP3K10.83300031
57STK110.80749271
58SGK10.79738357
59CDK180.79620982
60CDC42BPA0.79337260
61TYRO30.77295609
62CDK150.76923692
63TAOK10.76087659
64INSRR0.76059233
65PAK30.76032345
66NEK60.74185158
67RAF10.72303697
68CDK140.71704542
69PDK10.69520880
70FER0.67578341
71LIMK10.67534275
72CDK11A0.66204282
73DAPK30.65476085
74NME10.64908986
75PKN10.64591990
76PDPK10.64307208
77CAMK2D0.63413943
78ALK0.63021000
79CAMK2G0.61678463
80MARK20.61513130
81PRKCE0.60501608
82BRAF0.60219426
83LMTK20.59470355
84DYRK1A0.59382205
85RET0.58017779
86WNK10.56280309
87RPS6KA30.55634212
88MAP2K60.55527363
89PHKG10.53374661
90PHKG20.53374661
91SIK30.52781093
92MAP3K70.52281798
93ROCK20.51437869
94TESK10.50834694
95CSNK1G20.47428690
96MAPK100.47354325
97WNK30.47289438
98CAMK1G0.45611825
99CAMK40.43696092
100LATS20.42478583
101FYN0.41006251
102IRAK20.40464165
103MUSK0.39312272
104PRKD20.39056321
105PRKCA0.38289222
106CCNB10.38257548
107PRKCZ0.37571003
108BRSK10.36710841
109PRKCB0.36693882
110MAP2K10.34881956
111PRKG10.33914747
112ROCK10.32557524
113CSNK1A10.31882605
114* PRKACA0.31485741
115MAP3K110.31406568
116CSNK1D0.29860893
117PRKG20.27651205

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.03091513
2Synaptic vesicle cycle_Homo sapiens_hsa047213.39715302
3GABAergic synapse_Homo sapiens_hsa047272.88356017
4Circadian entrainment_Homo sapiens_hsa047132.83625029
5Long-term potentiation_Homo sapiens_hsa047202.76880077
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.76826693
7Olfactory transduction_Homo sapiens_hsa047402.70725582
8Amphetamine addiction_Homo sapiens_hsa050312.64080065
9Glutamatergic synapse_Homo sapiens_hsa047242.62946825
10Morphine addiction_Homo sapiens_hsa050322.58363793
11Insulin secretion_Homo sapiens_hsa049112.34779306
12Salivary secretion_Homo sapiens_hsa049702.21276378
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.19003439
14Dopaminergic synapse_Homo sapiens_hsa047282.14107360
15Taste transduction_Homo sapiens_hsa047421.97151660
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.92019662
17Gastric acid secretion_Homo sapiens_hsa049711.88154630
18Cholinergic synapse_Homo sapiens_hsa047251.84113164
19Cocaine addiction_Homo sapiens_hsa050301.78582767
20Collecting duct acid secretion_Homo sapiens_hsa049661.76194470
21Serotonergic synapse_Homo sapiens_hsa047261.75365749
22Long-term depression_Homo sapiens_hsa047301.68979388
23Vitamin B6 metabolism_Homo sapiens_hsa007501.67912582
24Calcium signaling pathway_Homo sapiens_hsa040201.66822426
25Renin secretion_Homo sapiens_hsa049241.63699203
26Oxytocin signaling pathway_Homo sapiens_hsa049211.59417227
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.56528619
28Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.49457508
29GnRH signaling pathway_Homo sapiens_hsa049121.41461207
30Type II diabetes mellitus_Homo sapiens_hsa049301.40316346
31Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.39686597
32cAMP signaling pathway_Homo sapiens_hsa040241.32824114
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.24459528
34Vibrio cholerae infection_Homo sapiens_hsa051101.22821876
35Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.20383835
36Phosphatidylinositol signaling system_Homo sapiens_hsa040701.20254687
37Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.19452304
38Gap junction_Homo sapiens_hsa045401.18118096
39Estrogen signaling pathway_Homo sapiens_hsa049151.08983111
40cGMP-PKG signaling pathway_Homo sapiens_hsa040221.01840448
41Glioma_Homo sapiens_hsa052140.97700152
42Pancreatic secretion_Homo sapiens_hsa049720.97489485
43Vascular smooth muscle contraction_Homo sapiens_hsa042700.95392944
44Melanogenesis_Homo sapiens_hsa049160.95119091
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.91823936
46ErbB signaling pathway_Homo sapiens_hsa040120.91382128
47Type I diabetes mellitus_Homo sapiens_hsa049400.89855261
48Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.89036463
49Cardiac muscle contraction_Homo sapiens_hsa042600.87953502
50Thyroid hormone synthesis_Homo sapiens_hsa049180.85634687
51Nitrogen metabolism_Homo sapiens_hsa009100.85451098
52Axon guidance_Homo sapiens_hsa043600.82417570
53Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.80226759
54Phospholipase D signaling pathway_Homo sapiens_hsa040720.78932057
55Dorso-ventral axis formation_Homo sapiens_hsa043200.77676480
56Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.76357750
57Phototransduction_Homo sapiens_hsa047440.74305795
58Oocyte meiosis_Homo sapiens_hsa041140.73306911
59Carbohydrate digestion and absorption_Homo sapiens_hsa049730.72185444
60Dilated cardiomyopathy_Homo sapiens_hsa054140.69735524
61Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.67223790
62Choline metabolism in cancer_Homo sapiens_hsa052310.65483105
63Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.65391400
64* MAPK signaling pathway_Homo sapiens_hsa040100.63491967
65Glucagon signaling pathway_Homo sapiens_hsa049220.61757293
66Circadian rhythm_Homo sapiens_hsa047100.59218702
67Inositol phosphate metabolism_Homo sapiens_hsa005620.54065608
68Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.51006296
69Maturity onset diabetes of the young_Homo sapiens_hsa049500.49990363
70Neurotrophin signaling pathway_Homo sapiens_hsa047220.49170290
71* Ras signaling pathway_Homo sapiens_hsa040140.48244854
72SNARE interactions in vesicular transport_Homo sapiens_hsa041300.47921570
73Bile secretion_Homo sapiens_hsa049760.47653632
74Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.47527932
75Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.45698186
76Prion diseases_Homo sapiens_hsa050200.45210309
77Rap1 signaling pathway_Homo sapiens_hsa040150.45037435
78Alcoholism_Homo sapiens_hsa050340.44591854
79Thyroid hormone signaling pathway_Homo sapiens_hsa049190.43244576
80Ovarian steroidogenesis_Homo sapiens_hsa049130.42701981
81Regulation of autophagy_Homo sapiens_hsa041400.40494928
82Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.40070701
83VEGF signaling pathway_Homo sapiens_hsa043700.38854401
84Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.37477617
85Endocytosis_Homo sapiens_hsa041440.37059316
86mTOR signaling pathway_Homo sapiens_hsa041500.36848637
87Butanoate metabolism_Homo sapiens_hsa006500.36053821
88Arginine biosynthesis_Homo sapiens_hsa002200.35355421
89Sphingolipid signaling pathway_Homo sapiens_hsa040710.34800166
90Arginine and proline metabolism_Homo sapiens_hsa003300.34446098
91Longevity regulating pathway - mammal_Homo sapiens_hsa042110.33854293
92African trypanosomiasis_Homo sapiens_hsa051430.33217028
93Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.33145027
94Insulin signaling pathway_Homo sapiens_hsa049100.31802064
95Rheumatoid arthritis_Homo sapiens_hsa053230.31761740
96Wnt signaling pathway_Homo sapiens_hsa043100.31560359
97Alzheimers disease_Homo sapiens_hsa050100.31367909
98Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.30504055
99Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.28800947
100Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.28138016
101beta-Alanine metabolism_Homo sapiens_hsa004100.28065334
102Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.28006855
103ABC transporters_Homo sapiens_hsa020100.28003303
104Glycerophospholipid metabolism_Homo sapiens_hsa005640.27543572
105Chemokine signaling pathway_Homo sapiens_hsa040620.26612729
106Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.26541543
107Fatty acid biosynthesis_Homo sapiens_hsa000610.26464311
108Histidine metabolism_Homo sapiens_hsa003400.24901818
109Non-small cell lung cancer_Homo sapiens_hsa052230.24787775
110AMPK signaling pathway_Homo sapiens_hsa041520.21075106
111Mineral absorption_Homo sapiens_hsa049780.19646954
112Tight junction_Homo sapiens_hsa045300.17000442
113Ether lipid metabolism_Homo sapiens_hsa005650.13581245

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