RAP1GAP

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 type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and hence returns RAP1 to the inactive state whereas other proteins, guanine nucleotide exchange factors (GEFs), act as RAP1 activators by facilitating the conversion of RAP1 from the GDP- to the GTP-bound form. In general, ras subfamily proteins, such as RAP1, play key roles in receptor-linked signaling pathways that control cell growth and differentiation. RAP1 plays a role in diverse processes such as cell proliferation, adhesion, differentiation, and embryogenesis. Alternative splicing results in multiple transcript variants encoding distinct proteins. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)5.99366348
2locomotory exploration behavior (GO:0035641)5.86277899
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.85883401
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.46519746
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.39447720
6vocalization behavior (GO:0071625)5.05162981
7regulation of synapse structural plasticity (GO:0051823)4.94274736
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.75496547
9regulation of synaptic vesicle exocytosis (GO:2000300)4.67928790
10synaptic vesicle exocytosis (GO:0016079)4.66951118
11regulation of glutamate receptor signaling pathway (GO:1900449)4.53756289
12regulation of long-term neuronal synaptic plasticity (GO:0048169)4.52817010
13synaptic vesicle docking involved in exocytosis (GO:0016081)4.51301099
14cerebellar granule cell differentiation (GO:0021707)4.50732665
15L-amino acid import (GO:0043092)4.47427395
16regulation of neuronal synaptic plasticity (GO:0048168)4.45616056
17prepulse inhibition (GO:0060134)4.40220414
18glutamate secretion (GO:0014047)4.39716764
19neurotransmitter secretion (GO:0007269)4.38258194
20ionotropic glutamate receptor signaling pathway (GO:0035235)4.27743672
21neuronal action potential propagation (GO:0019227)4.27434997
22membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.17852370
23amino acid import (GO:0043090)4.17673151
24exploration behavior (GO:0035640)4.15781219
25regulation of synaptic vesicle transport (GO:1902803)4.14932511
26layer formation in cerebral cortex (GO:0021819)4.08536031
27gamma-aminobutyric acid transport (GO:0015812)4.06978890
28central nervous system myelination (GO:0022010)4.01972034
29axon ensheathment in central nervous system (GO:0032291)4.01972034
30dendritic spine morphogenesis (GO:0060997)3.97866701
31neuromuscular process controlling balance (GO:0050885)3.97438344
32auditory behavior (GO:0031223)3.95800231
33cytoskeletal anchoring at plasma membrane (GO:0007016)3.95618228
34protein localization to synapse (GO:0035418)3.93168447
35cellular sodium ion homeostasis (GO:0006883)3.92943610
36synaptic transmission, glutamatergic (GO:0035249)3.90819792
37positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.90395835
38glycine transport (GO:0015816)3.89290836
39cellular potassium ion homeostasis (GO:0030007)3.87887902
40neurotransmitter-gated ion channel clustering (GO:0072578)3.87366450
41negative regulation of dendrite morphogenesis (GO:0050774)3.84200822
42sodium ion export (GO:0071436)3.83321706
43positive regulation of synaptic transmission, GABAergic (GO:0032230)3.81084296
44long-term memory (GO:0007616)3.79103550
45neuron-neuron synaptic transmission (GO:0007270)3.78488927
46synaptic vesicle endocytosis (GO:0048488)3.76560766
47positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.67225105
48regulation of dendritic spine morphogenesis (GO:0061001)3.66278254
49activation of protein kinase A activity (GO:0034199)3.66215666
50positive regulation of membrane potential (GO:0045838)3.65732683
51glutamate receptor signaling pathway (GO:0007215)3.63845428
52neuronal ion channel clustering (GO:0045161)3.62414136
53transmission of nerve impulse (GO:0019226)3.62224259
54regulation of excitatory postsynaptic membrane potential (GO:0060079)3.61338151
55response to auditory stimulus (GO:0010996)3.60047794
56positive regulation of dendritic spine development (GO:0060999)3.55657291
57regulation of synapse maturation (GO:0090128)3.54321660
58synaptic transmission, dopaminergic (GO:0001963)3.51665749
59neuromuscular process controlling posture (GO:0050884)3.51069110
60neuron cell-cell adhesion (GO:0007158)3.50823391
61striatum development (GO:0021756)3.49448900
62neurotransmitter transport (GO:0006836)3.47895426
63positive regulation of neurotransmitter transport (GO:0051590)3.46508425
64negative regulation of cytosolic calcium ion concentration (GO:0051481)3.46185375
65regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.45465350
66proline transport (GO:0015824)3.42290818
67regulation of synaptic plasticity (GO:0048167)3.40878746
68regulation of postsynaptic membrane potential (GO:0060078)3.39971136
69regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.38252627
70adenosine receptor signaling pathway (GO:0001973)3.37825988
71positive regulation of dendritic spine morphogenesis (GO:0061003)3.37497999
72regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.37331662
73adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.36013981
74negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.34033662
75regulation of neurotransmitter levels (GO:0001505)3.33144238
76regulation of synaptic transmission, glutamatergic (GO:0051966)3.32235035
77cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.31398597
78dopamine receptor signaling pathway (GO:0007212)3.27278306
79membrane hyperpolarization (GO:0060081)3.24997914
80behavioral response to cocaine (GO:0048148)3.23538913
81negative regulation of synaptic transmission, GABAergic (GO:0032229)3.23392219
82positive regulation of neurotransmitter secretion (GO:0001956)3.21111073
83mating behavior (GO:0007617)3.18449814
84cell communication by electrical coupling (GO:0010644)3.14840326
85regulation of female receptivity (GO:0045924)3.14257530
86long-term synaptic potentiation (GO:0060291)3.11617478
87regulation of neurotransmitter secretion (GO:0046928)3.09658701
88membrane depolarization during action potential (GO:0086010)3.08978419
89G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.08834941
90cerebellar Purkinje cell differentiation (GO:0021702)3.05310513
91neuromuscular process (GO:0050905)3.05090847
92regulation of neurotransmitter transport (GO:0051588)3.04797700
93response to amphetamine (GO:0001975)3.03453200
94regulation of vesicle fusion (GO:0031338)3.03451072
95vesicle transport along microtubule (GO:0047496)3.01995967
96dendrite morphogenesis (GO:0048813)3.00637209
97membrane depolarization (GO:0051899)2.99790531
98regulation of ARF protein signal transduction (GO:0032012)2.99010801
99regulation of voltage-gated calcium channel activity (GO:1901385)2.98188841
100dendritic spine organization (GO:0097061)2.97682185
101mechanosensory behavior (GO:0007638)2.96527010
102visual learning (GO:0008542)2.96131306
103myelin maintenance (GO:0043217)2.95792707
104positive regulation of synapse maturation (GO:0090129)2.95226901
105potassium ion import (GO:0010107)2.94782923
106postsynaptic membrane organization (GO:0001941)2.92709756
107cell communication involved in cardiac conduction (GO:0086065)2.92679822
108adult walking behavior (GO:0007628)2.91256885
109chemosensory behavior (GO:0007635)2.90634171
110positive regulation of synaptic transmission (GO:0050806)2.90300492
111potassium ion homeostasis (GO:0055075)2.90033401
112regulation of dendritic spine development (GO:0060998)2.89648536
113acidic amino acid transport (GO:0015800)2.89540833
114dicarboxylic acid transport (GO:0006835)2.89335704
115regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.89023565
116learning (GO:0007612)2.88942531
117neurotransmitter uptake (GO:0001504)2.88097513
118regulation of glutamate secretion (GO:0014048)2.86531789
119regulation of synaptic transmission, GABAergic (GO:0032228)2.85775543
120neuron recognition (GO:0008038)2.85404096
121vesicle docking involved in exocytosis (GO:0006904)2.84988213
122cerebellar Purkinje cell layer development (GO:0021680)2.84891366
123membrane repolarization (GO:0086009)2.84543197
124regulation of synaptic transmission (GO:0050804)2.81322677
125signal release (GO:0023061)2.81205676
126gamma-aminobutyric acid signaling pathway (GO:0007214)2.81018063
127establishment of synaptic vesicle localization (GO:0097480)2.79667871
128synaptic vesicle transport (GO:0048489)2.79667871
129regulation of exocytosis (GO:0017157)2.78512457
130detection of calcium ion (GO:0005513)2.76376210
131peptidyl-tyrosine autophosphorylation (GO:0038083)2.75732780
132positive regulation of dendrite development (GO:1900006)2.72861139
133cell differentiation in hindbrain (GO:0021533)2.71241094

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.07895006
2* RARB_27405468_Chip-Seq_BRAIN_Mouse3.22810941
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.04062883
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.99081184
5DROSHA_22980978_ChIP-Seq_HELA_Human2.90038889
6JARID2_20064375_ChIP-Seq_MESCs_Mouse2.85558679
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.73951670
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.73951670
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.69069390
10* REST_21632747_ChIP-Seq_MESCs_Mouse2.64025586
11GBX2_23144817_ChIP-Seq_PC3_Human2.60681223
12MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.60211003
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.60122055
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.59996725
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.47272248
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.46584611
17* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.42687366
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.36939546
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.31988089
20IKZF1_21737484_ChIP-ChIP_HCT116_Human2.29873144
21EZH2_27304074_Chip-Seq_ESCs_Mouse2.29597001
22SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.28137249
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.24982821
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.14455988
25ERG_21242973_ChIP-ChIP_JURKAT_Human2.07844741
26EED_16625203_ChIP-ChIP_MESCs_Mouse1.99899686
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.92172406
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.80792739
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.74128218
30SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.61424793
31DNAJC2_21179169_ChIP-ChIP_NT2_Human1.60817677
32* KDM2B_26808549_Chip-Seq_K562_Human1.50514637
33* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.45986697
34* AR_21572438_ChIP-Seq_LNCaP_Human1.43186930
35CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.41737983
36* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.39354745
37* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.37532394
38ZFP281_18757296_ChIP-ChIP_E14_Mouse1.36898940
39* CREB1_26743006_Chip-Seq_LNCaP_Human1.36706383
40WT1_25993318_ChIP-Seq_PODOCYTE_Human1.36500483
41GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.36150829
42RING1B_27294783_Chip-Seq_ESCs_Mouse1.35801347
43WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.31878187
44SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.28643755
45GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.25095524
46* GATA1_19941826_ChIP-Seq_K562_Human1.24920186
47SMAD4_21799915_ChIP-Seq_A2780_Human1.23376502
48RACK7_27058665_Chip-Seq_MCF-7_Human1.22596049
49SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.21540023
50CTBP2_25329375_ChIP-Seq_LNCAP_Human1.20688214
51* AR_19668381_ChIP-Seq_PC3_Human1.20377712
52SOX2_21211035_ChIP-Seq_LN229_Gbm1.18582687
53ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.16804263
54ESR1_21235772_ChIP-Seq_MCF-7_Human1.16775794
55SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.16564053
56* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.14423998
57RING1B_27294783_Chip-Seq_NPCs_Mouse1.13487128
58ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.12981904
59PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.12621661
60ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.11872954
61* P68_20966046_ChIP-Seq_HELA_Human1.11872924
62ZNF217_24962896_ChIP-Seq_MCF-7_Human1.11096027
63P53_22127205_ChIP-Seq_FIBROBLAST_Human1.11059453
64ZNF274_21170338_ChIP-Seq_K562_Hela1.10835327
65KDM2B_26808549_Chip-Seq_DND41_Human1.09460552
66OCT4_19829295_ChIP-Seq_ESCs_Human1.09302417
67* CTCF_27219007_Chip-Seq_Bcells_Human1.09096502
68SRY_22984422_ChIP-ChIP_TESTIS_Rat1.08691951
69NR3C1_23031785_ChIP-Seq_PC12_Mouse1.07906904
70* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.07814359
71ZFP281_27345836_Chip-Seq_ESCs_Mouse1.06438882
72GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.05925561
73STAT3_23295773_ChIP-Seq_U87_Human1.04485163
74* TET1_21490601_ChIP-Seq_MESCs_Mouse1.03040686
75CTBP1_25329375_ChIP-Seq_LNCAP_Human1.01729000
76TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.01529402
77PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.00913564
78AHR_22903824_ChIP-Seq_MCF-7_Human1.00444879
79PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.99703254
80TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.99132316
81SMAD3_21741376_ChIP-Seq_EPCs_Human0.99089212
82VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.99004350
83SMAD3_21741376_ChIP-Seq_HESCs_Human0.97614920
84UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.97140574
85PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.96681271
86SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.96408632
87TAF15_26573619_Chip-Seq_HEK293_Human0.95879212
88KDM2B_26808549_Chip-Seq_SUP-B15_Human0.95630801
89SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.94567611
90DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.94303693
91PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.94028142
92KLF4_19829295_ChIP-Seq_ESCs_Human0.93880621
93TET1_21451524_ChIP-Seq_MESCs_Mouse0.93820956
94NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.93552905
95TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.92875129
96TRIM28_21343339_ChIP-Seq_HEK293_Human0.92600578
97ESR2_21235772_ChIP-Seq_MCF-7_Human0.92514741
98ARNT_22903824_ChIP-Seq_MCF-7_Human0.92450495
99YAP1_20516196_ChIP-Seq_MESCs_Mouse0.92322856
100* GATA1_19941827_ChIP-Seq_MEL_Mouse0.92284680
101SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.91378852
102CTCF_27219007_Chip-Seq_ERYTHROID_Human0.90779194
103* SMAD4_21741376_ChIP-Seq_HESCs_Human0.90227869
104NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.90193044
105SMAD3_21741376_ChIP-Seq_ESCs_Human0.90123200
106RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.90036738
107CDX2_19796622_ChIP-Seq_MESCs_Mouse0.89900768
108FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.89522807
109ESR1_20079471_ChIP-ChIP_T-47D_Human0.88724102
110AR_25329375_ChIP-Seq_VCAP_Human0.88381143
111* FOXA2_19822575_ChIP-Seq_HepG2_Human0.88152524
112MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.87816591
113RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.87652263
114TCF7_22412390_ChIP-Seq_EML_Mouse0.87601418
115LXR_22292898_ChIP-Seq_THP-1_Human0.87441647
116* ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.85810143
117TCF4_23295773_ChIP-Seq_U87_Human0.85534740
118EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.85338767
119SMC4_20622854_ChIP-Seq_HELA_Human0.85318764
120* SA1_27219007_Chip-Seq_ERYTHROID_Human0.85221220
121* KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.84932714
122THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.84114167
123RXR_22108803_ChIP-Seq_LS180_Human0.84061884
124SMAD4_21741376_ChIP-Seq_ESCs_Human0.83827910
125OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.83582111
126MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.83496725
127SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.83036020
128MYC_19915707_ChIP-ChIP_AK7_Human0.82510284
129BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.82223027
130TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.81706566
131* KDM2B_26808549_Chip-Seq_JURKAT_Human0.81701450
132* DPY_21335234_ChIP-Seq_ESCs_Mouse0.81345520
133CDX2_20551321_ChIP-Seq_CACO-2_Human0.80724120
134NR3C1_21868756_ChIP-Seq_MCF10A_Human0.80152536
135OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.79772472
136TOP2B_26459242_ChIP-Seq_MCF-7_Human0.78988563
137SMAD4_21741376_ChIP-Seq_EPCs_Human0.78846195
138CTNNB1_20460455_ChIP-Seq_HCT116_Human0.77197502

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.50946561
2MP0002822_catalepsy5.38783283
3MP0003880_abnormal_central_pattern4.17927089
4MP0003635_abnormal_synaptic_transmissio4.10961785
5MP0004270_analgesia3.49347543
6MP0009745_abnormal_behavioral_response3.48527964
7MP0002063_abnormal_learning/memory/cond3.23518950
8MP0002064_seizures3.09726547
9MP0009046_muscle_twitch3.02434683
10MP0005423_abnormal_somatic_nervous2.82495084
11MP0002572_abnormal_emotion/affect_behav2.63138206
12MP0002272_abnormal_nervous_system2.58306388
13MP0001486_abnormal_startle_reflex2.57642793
14MP0001968_abnormal_touch/_nociception2.53538131
15MP0002909_abnormal_adrenal_gland2.44907438
16MP0002734_abnormal_mechanical_nocicepti2.39349797
17MP0004147_increased_porphyrin_level2.37997425
18MP0001501_abnormal_sleep_pattern2.18493831
19MP0008569_lethality_at_weaning2.00727357
20MP0009780_abnormal_chondrocyte_physiolo1.96239890
21MP0002733_abnormal_thermal_nociception1.89803478
22MP0001970_abnormal_pain_threshold1.85423805
23MP0003329_amyloid_beta_deposits1.85010383
24MP0001440_abnormal_grooming_behavior1.82687863
25MP0004885_abnormal_endolymph1.81384228
26MP0005646_abnormal_pituitary_gland1.78687581
27MP0004924_abnormal_behavior1.75820151
28MP0005386_behavior/neurological_phenoty1.75820151
29MP0003123_paternal_imprinting1.75030637
30MP0002736_abnormal_nociception_after1.72667159
31MP0004811_abnormal_neuron_physiology1.72596571
32MP0002067_abnormal_sensory_capabilities1.71692661
33MP0004858_abnormal_nervous_system1.69324838
34MP0002557_abnormal_social/conspecific_i1.67347791
35MP0002735_abnormal_chemical_nociception1.60953358
36MP0003283_abnormal_digestive_organ1.58197699
37MP0003879_abnormal_hair_cell1.55048656
38MP0001529_abnormal_vocalization1.54524200
39MP0000955_abnormal_spinal_cord1.51581020
40MP0002184_abnormal_innervation1.50576025
41MP0001984_abnormal_olfaction1.39854725
42MP0002066_abnormal_motor_capabilities/c1.39672069
43MP0003633_abnormal_nervous_system1.39393910
44MP0000778_abnormal_nervous_system1.36944995
45MP0002882_abnormal_neuron_morphology1.30176981
46MP0010234_abnormal_vibrissa_follicle1.30004942
47MP0008961_abnormal_basal_metabolism1.29866920
48MP0005645_abnormal_hypothalamus_physiol1.26675340
49MP0003075_altered_response_to1.21787205
50MP0000681_abnormal_thyroid_gland1.20471817
51MP0000013_abnormal_adipose_tissue1.18431425
52MP0008872_abnormal_physiological_respon1.18367667
53MP0003690_abnormal_glial_cell1.17508206
54MP0001502_abnormal_circadian_rhythm1.17203809
55MP0000920_abnormal_myelination1.15992226
56MP0001177_atelectasis1.14673424
57MP0004142_abnormal_muscle_tone1.13165734
58MP0003631_nervous_system_phenotype1.12580579
59MP0003787_abnormal_imprinting1.11976177
60MP0005167_abnormal_blood-brain_barrier1.10812041
61MP0004043_abnormal_pH_regulation1.09915043
62MP0000566_synostosis1.07529927
63MP0008874_decreased_physiological_sensi1.02829450
64MP0001905_abnormal_dopamine_level1.01757487
65MP0002069_abnormal_eating/drinking_beha1.01535740
66MP0002876_abnormal_thyroid_physiology0.99910633
67MP0002229_neurodegeneration0.99419186
68MP0002152_abnormal_brain_morphology0.99244301
69MP0001756_abnormal_urination0.96230224
70MP0003122_maternal_imprinting0.95358448
71MP0005377_hearing/vestibular/ear_phenot0.95234232
72MP0003878_abnormal_ear_physiology0.95234232
73MP0003634_abnormal_glial_cell0.95030213
74MP0005535_abnormal_body_temperature0.93097807
75MP0000751_myopathy0.92566475
76MP0004085_abnormal_heartbeat0.90619580
77MP0001664_abnormal_digestion0.88472561
78MP0006276_abnormal_autonomic_nervous0.86769745
79MP0004145_abnormal_muscle_electrophysio0.83502163
80MP0005409_darkened_coat_color0.82159876
81MP0003632_abnormal_nervous_system0.80821595
82MP0001485_abnormal_pinna_reflex0.79194520
83MP0001188_hyperpigmentation0.78571249
84MP0002090_abnormal_vision0.78202440
85MP0005636_abnormal_mineral_homeostasis0.76671785
86MP0000604_amyloidosis0.76620038
87MP0000569_abnormal_digit_pigmentation0.76100672
88MP0003656_abnormal_erythrocyte_physiolo0.75368349
89MP0004742_abnormal_vestibular_system0.74450391
90MP0005499_abnormal_olfactory_system0.73727813
91MP0005394_taste/olfaction_phenotype0.73727813
92MP0003137_abnormal_impulse_conducting0.73011687
93MP0001346_abnormal_lacrimal_gland0.71612510
94MP0003172_abnormal_lysosome_physiology0.71032164
95MP0003183_abnormal_peptide_metabolism0.70927390
96MP0005551_abnormal_eye_electrophysiolog0.70728774
97MP0000631_abnormal_neuroendocrine_gland0.68818469
98MP0004233_abnormal_muscle_weight0.66869454
99MP0005623_abnormal_meninges_morphology0.64525087
100MP0005365_abnormal_bile_salt0.63751888
101MP0001299_abnormal_eye_distance/0.62433357
102MP0005083_abnormal_biliary_tract0.62253891
103MP0004019_abnormal_vitamin_homeostasis0.61089256
104MP0000003_abnormal_adipose_tissue0.60602580
105MP0001348_abnormal_lacrimal_gland0.60136740
106MP0000639_abnormal_adrenal_gland0.58978165
107MP0003045_fibrosis0.58922260
108MP0002752_abnormal_somatic_nervous0.58419623
109MP0001963_abnormal_hearing_physiology0.57566389
110MP0001765_abnormal_ion_homeostasis0.56646207
111MP0001666_abnormal_nutrient_absorption0.56237382
112MP0001943_abnormal_respiration0.55237904
113MP0000747_muscle_weakness0.54630996
114MP0001731_abnormal_postnatal_growth0.53843211
115MP0010769_abnormal_survival0.53825252
116MP0002249_abnormal_larynx_morphology0.52478119
117MP0010386_abnormal_urinary_bladder0.52100336
118MP0002089_abnormal_postnatal_growth/wei0.51197092
119MP0003953_abnormal_hormone_level0.51120836
120MP0010768_mortality/aging0.50652895
121MP0010329_abnormal_lipoprotein_level0.50622638
122MP0003956_abnormal_body_size0.50471764

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.83840755
2Focal motor seizures (HP:0011153)6.72079045
3Focal seizures (HP:0007359)5.31415824
4Visual hallucinations (HP:0002367)4.90315512
5Action tremor (HP:0002345)4.44101563
6Ankle clonus (HP:0011448)3.97055262
7Supranuclear gaze palsy (HP:0000605)3.82809820
8Epileptic encephalopathy (HP:0200134)3.69969227
9Progressive cerebellar ataxia (HP:0002073)3.59973017
10Depression (HP:0000716)3.57210681
11Poor eye contact (HP:0000817)3.48954421
12Torticollis (HP:0000473)3.47799940
13Anxiety (HP:0000739)3.44845836
14Generalized tonic-clonic seizures (HP:0002069)3.42070839
15Atonic seizures (HP:0010819)3.40152159
16Absence seizures (HP:0002121)3.34728015
17Febrile seizures (HP:0002373)3.31478299
18Impaired vibration sensation in the lower limbs (HP:0002166)3.30285866
19Postural instability (HP:0002172)3.29978221
20Dysdiadochokinesis (HP:0002075)3.27831095
21Impaired social interactions (HP:0000735)3.25845178
22Abnormal social behavior (HP:0012433)3.25845178
23Annular pancreas (HP:0001734)3.21513359
24Dysmetria (HP:0001310)3.11830551
25Ventricular fibrillation (HP:0001663)3.11458942
26Broad-based gait (HP:0002136)3.08546495
27Gaze-evoked nystagmus (HP:0000640)3.07612782
28Resting tremor (HP:0002322)3.05879530
29Urinary bladder sphincter dysfunction (HP:0002839)3.05797332
30Focal dystonia (HP:0004373)3.05383631
31Dialeptic seizures (HP:0011146)3.03553723
32Metabolic alkalosis (HP:0200114)3.01918785
33Intention tremor (HP:0002080)2.93230885
34Craniofacial dystonia (HP:0012179)2.89646176
35Papilledema (HP:0001085)2.88013510
36Urinary urgency (HP:0000012)2.86284758
37Scanning speech (HP:0002168)2.86197634
38Abnormal eating behavior (HP:0100738)2.84507226
39Cerebral hypomyelination (HP:0006808)2.78033419
40Spastic gait (HP:0002064)2.76578480
41Abnormality of the lower motor neuron (HP:0002366)2.75123742
42Truncal ataxia (HP:0002078)2.73935661
43Neurofibrillary tangles (HP:0002185)2.73376206
44Akinesia (HP:0002304)2.73002625
45Megalencephaly (HP:0001355)2.70617536
46Ankyloglossia (HP:0010296)2.66875459
47Mutism (HP:0002300)2.65872650
48Hemiplegia (HP:0002301)2.64940245
49Hyperthyroidism (HP:0000836)2.64796199
50Hyperaldosteronism (HP:0000859)2.63745126
51Peripheral hypomyelination (HP:0007182)2.61092610
52Hyperactive renin-angiotensin system (HP:0000841)2.58392103
53Hypokalemic alkalosis (HP:0001949)2.57366876
54Pointed chin (HP:0000307)2.54258817
55Impaired smooth pursuit (HP:0007772)2.53106120
56Stereotypic behavior (HP:0000733)2.51261462
57Cerebral inclusion bodies (HP:0100314)2.49874315
58Dysmetric saccades (HP:0000641)2.49682872
59Bradykinesia (HP:0002067)2.49511005
60Renal salt wasting (HP:0000127)2.46146968
61Prolonged QT interval (HP:0001657)2.45706024
62Sleep apnea (HP:0010535)2.44104687
63Genetic anticipation (HP:0003743)2.42538650
64Insomnia (HP:0100785)2.42265620
65Delusions (HP:0000746)2.39936035
66Bronchomalacia (HP:0002780)2.39816303
67Clonus (HP:0002169)2.37602969
68Abnormal gallbladder physiology (HP:0012438)2.35478361
69Cholecystitis (HP:0001082)2.35478361
70Hemiparesis (HP:0001269)2.32361529
71Bundle branch block (HP:0011710)2.31643034
72Abnormal EKG (HP:0003115)2.31535724
73Increased circulating renin level (HP:0000848)2.29577362
74Termporal pattern (HP:0011008)2.28243637
75Insidious onset (HP:0003587)2.28243637
76Status epilepticus (HP:0002133)2.27800249
77Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.25859498
78Lower limb muscle weakness (HP:0007340)2.23637410
79Abnormality of renin-angiotensin system (HP:0000847)2.22336635
80Amblyopia (HP:0000646)2.20981372
81Lower limb amyotrophy (HP:0007210)2.20233480
82Abnormality of ocular smooth pursuit (HP:0000617)2.19499373
83Progressive inability to walk (HP:0002505)2.19230094
84Limb dystonia (HP:0002451)2.16761938
85Impaired vibratory sensation (HP:0002495)2.14237729
86Choreoathetosis (HP:0001266)2.12890107
87Hyperparathyroidism (HP:0000843)2.12530966
88Abnormality of magnesium homeostasis (HP:0004921)2.12289823
89Adrenal overactivity (HP:0002717)2.10765901
90Abnormality of chloride homeostasis (HP:0011422)2.09793307
91Goiter (HP:0000853)2.09237197
92Hypomagnesemia (HP:0002917)2.08122011
93Neuronal loss in central nervous system (HP:0002529)2.07766043
94Reticulocytosis (HP:0001923)2.02010861
95Abnormality of binocular vision (HP:0011514)2.00971954
96Diplopia (HP:0000651)2.00971954
97EEG with generalized epileptiform discharges (HP:0011198)2.00800399
98Apathy (HP:0000741)2.00143024
99Epileptiform EEG discharges (HP:0011182)1.99904920
100Pheochromocytoma (HP:0002666)1.98392061
101Hypsarrhythmia (HP:0002521)1.98198227
102Abnormality of saccadic eye movements (HP:0000570)1.97887993
103Distal upper limb amyotrophy (HP:0007149)1.95737703
104Upper limb amyotrophy (HP:0009129)1.95737703
105Abnormality of the corticospinal tract (HP:0002492)1.95203341
106Rigidity (HP:0002063)1.94311834
107Hyperventilation (HP:0002883)1.92717016
108Onion bulb formation (HP:0003383)1.92617559
109Growth hormone excess (HP:0000845)1.91536753
110Tetraplegia (HP:0002445)1.90566492
111Aplasia involving bones of the extremities (HP:0009825)1.89548423
112Aplasia involving bones of the upper limbs (HP:0009823)1.89548423
113Aplasia of the phalanges of the hand (HP:0009802)1.89548423
114Incomplete penetrance (HP:0003829)1.89436737
115Excessive salivation (HP:0003781)1.89416874
116Drooling (HP:0002307)1.89416874
117Spastic tetraparesis (HP:0001285)1.89155229
118Postural tremor (HP:0002174)1.86746734
119Lower limb asymmetry (HP:0100559)1.86724436
120Abnormality of oral frenula (HP:0000190)1.86519517
121Gait ataxia (HP:0002066)1.83138041
122Hypercortisolism (HP:0001578)1.82771757
123Hand muscle atrophy (HP:0009130)1.82689870
124Rapidly progressive (HP:0003678)1.81884024
125Obstructive sleep apnea (HP:0002870)1.81308794
126Agitation (HP:0000713)1.79680483
127Diminished motivation (HP:0000745)1.79090161
128Fetal akinesia sequence (HP:0001989)1.78930326

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.51907079
2NTRK34.22426079
3MAP3K93.96111393
4DAPK22.68898289
5PRKD32.68513542
6KSR22.59562791
7MINK12.34363453
8MAP3K42.27143679
9PAK62.26430962
10CAMKK12.25822588
11MARK12.22479040
12NTRK12.15903605
13NTRK21.99107359
14RIPK41.79738483
15TYRO31.63431596
16MAP3K21.61844360
17CDK51.60644342
18TAOK11.54919071
19STK381.54782002
20MAP2K71.52747235
21TNIK1.46501297
22MAP3K131.45295153
23FES1.44668492
24KSR11.43765724
25ARAF1.41994945
26MAP2K41.37647786
27CAMKK21.28115746
28DAPK11.21541912
29UHMK11.20629199
30LMTK21.19396550
31SIK21.15627608
32PRKCH1.12736447
33PINK11.11153890
34RIPK11.09229115
35SGK4941.07294058
36SGK2231.07294058
37PRPF4B1.04748108
38CASK1.04088919
39CAMK1D1.02678029
40ALK1.01029613
41RET0.99975927
42PHKG10.99721657
43PHKG20.99721657
44GRK50.97797469
45PRKCG0.96947602
46STK110.95394371
47TRIB30.92487164
48CDK190.91951582
49WNK10.91487568
50MAP3K120.90852690
51CDK150.86850312
52OXSR10.86568367
53MAP3K110.85958583
54MAP3K10.85155745
55SGK30.84804931
56CDK180.84725035
57CAMK10.84449930
58MARK20.83645090
59TESK10.83315657
60PDPK10.82547281
61CDK140.81755622
62MAPK130.80392772
63RAF10.80096412
64SGK20.76612964
65CAMK2A0.76185528
66CDK11A0.75474528
67PDK10.75450943
68WNK40.73937932
69BRAF0.73583202
70SIK10.73431675
71SGK10.72897883
72NEK10.72601005
73PRKG20.71721932
74SCYL20.71298927
75CAMK2B0.71285058
76MAPK120.71100397
77PAK30.69649602
78NEK60.69344504
79CDC42BPA0.67674927
80TNK20.62013756
81MAP2K10.59846482
82PNCK0.59556179
83PLK20.57283947
84WNK30.55999675
85PRKCZ0.55402293
86DYRK1A0.55397690
87LATS20.55035979
88EEF2K0.54142956
89* RPS6KA30.53421171
90MAP2K60.52885228
91FYN0.52584895
92DAPK30.52421764
93STK390.52105420
94MAP3K70.50923155
95CSNK1G20.50477811
96PTK2B0.49850905
97PDGFRA0.49174335
98MAPK100.48380289
99ERBB20.48379508
100CAMK2G0.48107872
101IRAK20.48089145
102ICK0.47833617
103PRKD20.46606067
104BMPR20.45337124
105CAMK2D0.43720053
106EPHA20.43680236
107CAMK40.43363556
108FER0.41898455
109BRSK10.41626702
110DDR20.41305964
111CAMK1G0.39696989
112BMX0.38985322
113DMPK0.38764488
114FGFR20.38654503
115FGFR40.38646864
116AKT30.38435421
117ERN10.38294291
118RPS6KA20.37934353
119MST1R0.37911423

Predicted pathways (KEGG)

RankGene SetZ-score
1Olfactory transduction_Homo sapiens_hsa047402.99433189
2Nicotine addiction_Homo sapiens_hsa050332.96591795
3Synaptic vesicle cycle_Homo sapiens_hsa047212.96166451
4GABAergic synapse_Homo sapiens_hsa047272.67084718
5Circadian entrainment_Homo sapiens_hsa047132.58048156
6Morphine addiction_Homo sapiens_hsa050322.47702957
7Glutamatergic synapse_Homo sapiens_hsa047242.44348885
8Long-term potentiation_Homo sapiens_hsa047202.42645995
9Amphetamine addiction_Homo sapiens_hsa050312.41618344
10Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.30257228
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.30191884
12Dopaminergic synapse_Homo sapiens_hsa047282.13189892
13Cocaine addiction_Homo sapiens_hsa050302.11254576
14Salivary secretion_Homo sapiens_hsa049702.08214574
15Insulin secretion_Homo sapiens_hsa049112.02768637
16Gastric acid secretion_Homo sapiens_hsa049711.98258227
17Cholinergic synapse_Homo sapiens_hsa047251.96749135
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.91821336
19Vitamin B6 metabolism_Homo sapiens_hsa007501.91477921
20Nitrogen metabolism_Homo sapiens_hsa009101.87360464
21Renin secretion_Homo sapiens_hsa049241.68513887
22Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.67433761
23Pancreatic secretion_Homo sapiens_hsa049721.63412007
24Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.55629622
25Oxytocin signaling pathway_Homo sapiens_hsa049211.53917891
26Taste transduction_Homo sapiens_hsa047421.53146690
27Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.53052110
28Calcium signaling pathway_Homo sapiens_hsa040201.50462009
29Long-term depression_Homo sapiens_hsa047301.49938019
30Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.46171719
31Serotonergic synapse_Homo sapiens_hsa047261.40129986
32GnRH signaling pathway_Homo sapiens_hsa049121.39856431
33Gap junction_Homo sapiens_hsa045401.37454811
34cAMP signaling pathway_Homo sapiens_hsa040241.29484475
35Type II diabetes mellitus_Homo sapiens_hsa049301.21156633
36Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.18295173
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.11067184
38Estrogen signaling pathway_Homo sapiens_hsa049151.10974827
39Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.10206718
40Glioma_Homo sapiens_hsa052141.04797433
41Histidine metabolism_Homo sapiens_hsa003401.00647963
42cGMP-PKG signaling pathway_Homo sapiens_hsa040220.96060726
43Collecting duct acid secretion_Homo sapiens_hsa049660.96032200
44Thyroid hormone synthesis_Homo sapiens_hsa049180.95219505
45Phospholipase D signaling pathway_Homo sapiens_hsa040720.93032132
46Melanogenesis_Homo sapiens_hsa049160.92523584
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.92133788
48ErbB signaling pathway_Homo sapiens_hsa040120.90362014
49Fatty acid biosynthesis_Homo sapiens_hsa000610.89330326
50Axon guidance_Homo sapiens_hsa043600.87549467
51Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.86397129
52Arginine and proline metabolism_Homo sapiens_hsa003300.86056444
53Dorso-ventral axis formation_Homo sapiens_hsa043200.85799108
54Carbohydrate digestion and absorption_Homo sapiens_hsa049730.82586278
55Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.79441833
56Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.78320530
57Bile secretion_Homo sapiens_hsa049760.78159425
58Cardiac muscle contraction_Homo sapiens_hsa042600.77744638
59Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.76651267
60Mineral absorption_Homo sapiens_hsa049780.75524227
61Dilated cardiomyopathy_Homo sapiens_hsa054140.75012450
62Vibrio cholerae infection_Homo sapiens_hsa051100.73860554
63Cyanoamino acid metabolism_Homo sapiens_hsa004600.71531834
64Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.70340313
65Oocyte meiosis_Homo sapiens_hsa041140.69673488
66Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.69235562
67Choline metabolism in cancer_Homo sapiens_hsa052310.67661154
68Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.65978376
69Phototransduction_Homo sapiens_hsa047440.65603100
70VEGF signaling pathway_Homo sapiens_hsa043700.63081886
71Neurotrophin signaling pathway_Homo sapiens_hsa047220.62215039
72MAPK signaling pathway_Homo sapiens_hsa040100.61505608
73Thyroid hormone signaling pathway_Homo sapiens_hsa049190.61068798
74Non-small cell lung cancer_Homo sapiens_hsa052230.58780324
75Alcoholism_Homo sapiens_hsa050340.58627913
762-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.56465113
77AMPK signaling pathway_Homo sapiens_hsa041520.56298687
78mTOR signaling pathway_Homo sapiens_hsa041500.55816548
79Type I diabetes mellitus_Homo sapiens_hsa049400.55603061
80Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.55486402
81Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.55023630
82Endocytosis_Homo sapiens_hsa041440.54945846
83* Rap1 signaling pathway_Homo sapiens_hsa040150.52932457
84Glucagon signaling pathway_Homo sapiens_hsa049220.51736800
85Fructose and mannose metabolism_Homo sapiens_hsa000510.50892905
86Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.50471799
87Phenylalanine metabolism_Homo sapiens_hsa003600.50194365
88Sphingolipid signaling pathway_Homo sapiens_hsa040710.49663571
89Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.49021778
90Endometrial cancer_Homo sapiens_hsa052130.48507168
91Inositol phosphate metabolism_Homo sapiens_hsa005620.48454688
92Ras signaling pathway_Homo sapiens_hsa040140.48166405
93Longevity regulating pathway - mammal_Homo sapiens_hsa042110.47914578
94beta-Alanine metabolism_Homo sapiens_hsa004100.44831572
95Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.44554510
96Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.43948749
97Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.43904098
98Protein digestion and absorption_Homo sapiens_hsa049740.43141193
99Prion diseases_Homo sapiens_hsa050200.42666991
100ABC transporters_Homo sapiens_hsa020100.41891806
101Ovarian steroidogenesis_Homo sapiens_hsa049130.40423894
102Butanoate metabolism_Homo sapiens_hsa006500.40351643
103Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.40047886
104Insulin signaling pathway_Homo sapiens_hsa049100.39723740
105Renal cell carcinoma_Homo sapiens_hsa052110.39188932
106Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.38958164
107Circadian rhythm_Homo sapiens_hsa047100.38433707
108Chemokine signaling pathway_Homo sapiens_hsa040620.37940355
109Arginine biosynthesis_Homo sapiens_hsa002200.36159569
110Glycerophospholipid metabolism_Homo sapiens_hsa005640.35525951
111Glycerolipid metabolism_Homo sapiens_hsa005610.34437365
112Tight junction_Homo sapiens_hsa045300.32555152
113SNARE interactions in vesicular transport_Homo sapiens_hsa041300.31311117
114HIF-1 signaling pathway_Homo sapiens_hsa040660.29890233
115Maturity onset diabetes of the young_Homo sapiens_hsa049500.29386791
116Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.26492037
117Platelet activation_Homo sapiens_hsa046110.25893937
118Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.25527276

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