AGAP1

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





Description: This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuron cell-cell adhesion (GO:0007158)4.54601179
2regulation of short-term neuronal synaptic plasticity (GO:0048172)4.51943308
3synaptic vesicle maturation (GO:0016188)4.43091778
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.37995642
5axon ensheathment in central nervous system (GO:0032291)4.25032242
6central nervous system myelination (GO:0022010)4.25032242
7locomotory exploration behavior (GO:0035641)4.18628616
8positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.16301708
9vocalization behavior (GO:0071625)4.09645668
10layer formation in cerebral cortex (GO:0021819)4.01068387
11dendritic spine morphogenesis (GO:0060997)3.96779528
12sodium ion export (GO:0071436)3.90743361
13regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.76293344
14synaptic vesicle exocytosis (GO:0016079)3.74693278
15neuron recognition (GO:0008038)3.73614449
16protein localization to synapse (GO:0035418)3.72799801
17regulation of synaptic vesicle exocytosis (GO:2000300)3.68596214
18dendrite morphogenesis (GO:0048813)3.60056952
19transmission of nerve impulse (GO:0019226)3.52645031
20axonal fasciculation (GO:0007413)3.49550690
21ionotropic glutamate receptor signaling pathway (GO:0035235)3.42705064
22regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.42304254
23positive regulation of dendritic spine morphogenesis (GO:0061003)3.41796237
24presynaptic membrane assembly (GO:0097105)3.41423915
25regulation of glutamate receptor signaling pathway (GO:1900449)3.37304805
26glutamate secretion (GO:0014047)3.36364967
27regulation of synapse maturation (GO:0090128)3.27033191
28exploration behavior (GO:0035640)3.25030318
29cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.24158029
30presynaptic membrane organization (GO:0097090)3.23934683
31glutamate receptor signaling pathway (GO:0007215)3.21461573
32cerebellar granule cell differentiation (GO:0021707)3.20673766
33regulation of synapse structural plasticity (GO:0051823)3.19636207
34regulation of neuronal synaptic plasticity (GO:0048168)3.16568856
35synaptic transmission, glutamatergic (GO:0035249)3.15155514
36neuronal ion channel clustering (GO:0045161)3.14045010
37amino acid import (GO:0043090)3.13792989
38regulation of long-term neuronal synaptic plasticity (GO:0048169)3.12186598
39cell migration in hindbrain (GO:0021535)3.11675961
40gamma-aminobutyric acid transport (GO:0015812)3.11588922
41neuronal action potential propagation (GO:0019227)3.11207098
42regulation of synaptic vesicle transport (GO:1902803)3.10032871
43cell communication by electrical coupling (GO:0010644)3.09964795
44neuron-neuron synaptic transmission (GO:0007270)3.03100115
45neurotransmitter secretion (GO:0007269)3.02811407
46postsynaptic membrane organization (GO:0001941)3.02401417
47establishment of mitochondrion localization (GO:0051654)3.01865005
48long-term memory (GO:0007616)3.01332474
49synaptic vesicle docking involved in exocytosis (GO:0016081)2.99436913
50cellular sodium ion homeostasis (GO:0006883)2.99150220
51adult walking behavior (GO:0007628)2.98864715
52membrane hyperpolarization (GO:0060081)2.98331199
53cerebral cortex radially oriented cell migration (GO:0021799)2.95125188
54myelination (GO:0042552)2.94637505
55negative regulation of neurotransmitter transport (GO:0051589)2.93090145
56regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.92250540
57axon ensheathment (GO:0008366)2.90988022
58ensheathment of neurons (GO:0007272)2.90988022
59cellular potassium ion homeostasis (GO:0030007)2.89237871
60glycine transport (GO:0015816)2.88320851
61positive regulation of membrane potential (GO:0045838)2.87272390
62membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.86961774
63cytoskeletal anchoring at plasma membrane (GO:0007016)2.86338711
64regulation of dendritic spine morphogenesis (GO:0061001)2.86065838
65negative regulation of neurotransmitter secretion (GO:0046929)2.85707816
66auditory behavior (GO:0031223)2.85082333
67cerebellar Purkinje cell differentiation (GO:0021702)2.83696965
68central nervous system projection neuron axonogenesis (GO:0021952)2.83269104
69apical protein localization (GO:0045176)2.81538814
70photoreceptor cell differentiation (GO:0046530)2.81126586
71eye photoreceptor cell differentiation (GO:0001754)2.81126586
72synapse assembly (GO:0007416)2.80427183
73neurotransmitter-gated ion channel clustering (GO:0072578)2.80153541
74L-amino acid import (GO:0043092)2.79689090
75mating behavior (GO:0007617)2.79449208
76G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.77663760
77potassium ion import (GO:0010107)2.74696737
78negative regulation of dendrite morphogenesis (GO:0050774)2.74505892
79regulation of excitatory postsynaptic membrane potential (GO:0060079)2.73899844
80positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.73863801
81positive regulation of synaptic transmission, GABAergic (GO:0032230)2.73595087
82dendritic spine organization (GO:0097061)2.73285360
83regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.72351664
84synaptic vesicle endocytosis (GO:0048488)2.71554627
85synapse organization (GO:0050808)2.71485133
86cell communication involved in cardiac conduction (GO:0086065)2.71073804
87neuromuscular synaptic transmission (GO:0007274)2.71063730
88neuromuscular process controlling balance (GO:0050885)2.70887032
89regulation of postsynaptic membrane potential (GO:0060078)2.70490920
90response to auditory stimulus (GO:0010996)2.70459297
91neurotransmitter transport (GO:0006836)2.70321901
92gamma-aminobutyric acid signaling pathway (GO:0007214)2.68894726
93innervation (GO:0060384)2.68741426
94regulation of neurotransmitter levels (GO:0001505)2.67880121
95nerve growth factor signaling pathway (GO:0038180)2.65070480
96positive regulation of synapse assembly (GO:0051965)2.64896705
97long-chain fatty acid biosynthetic process (GO:0042759)2.63639283
98neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.62969951
99regulation of synaptic plasticity (GO:0048167)2.62383917
100pyrimidine nucleobase catabolic process (GO:0006208)2.61780927
101positive regulation of dendrite development (GO:1900006)2.61765169
102organelle transport along microtubule (GO:0072384)2.60416232
103regulation of neurotransmitter secretion (GO:0046928)2.59723310
104regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.59273786
105positive regulation of synapse maturation (GO:0090129)2.59177953
106potassium ion homeostasis (GO:0055075)2.59146626
107cerebellar Purkinje cell layer development (GO:0021680)2.58795577
108prepulse inhibition (GO:0060134)2.58696292
109negative regulation of axonogenesis (GO:0050771)2.57215449
110positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.56649656
111regulation of dendrite morphogenesis (GO:0048814)2.56564432
112regulation of vesicle fusion (GO:0031338)2.55395246
113membrane depolarization during action potential (GO:0086010)2.54817879
114peptidyl-tyrosine autophosphorylation (GO:0038083)2.53974290
115positive regulation of dendritic spine development (GO:0060999)2.53883116
116dendrite development (GO:0016358)2.53723049
117membrane assembly (GO:0071709)2.53094277
118negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.52300804
119positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.51759130
120regulation of synaptic transmission, GABAergic (GO:0032228)2.51272726
121regulation of voltage-gated calcium channel activity (GO:1901385)2.50889306
122mitochondrion transport along microtubule (GO:0047497)2.49452321
123establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.49452321
124neuromuscular process (GO:0050905)2.48236011
125adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.46817085
126cell differentiation in hindbrain (GO:0021533)2.45865141
127axon extension (GO:0048675)2.44128554
128regulation of dendritic spine development (GO:0060998)2.44071576

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.63711176
2GBX2_23144817_ChIP-Seq_PC3_Human3.37827809
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.78384778
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.78144787
5SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.75889549
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.55250402
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.55250402
8EZH2_27304074_Chip-Seq_ESCs_Mouse2.53639697
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.40409108
10* DROSHA_22980978_ChIP-Seq_HELA_Human2.34140276
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.31234942
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.28248720
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.26664132
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.26070540
15EED_16625203_ChIP-ChIP_MESCs_Mouse2.25399310
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.24935471
17EZH2_27294783_Chip-Seq_ESCs_Mouse2.24210285
18RNF2_27304074_Chip-Seq_ESCs_Mouse2.16300146
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.14269912
20GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.09327704
21REST_21632747_ChIP-Seq_MESCs_Mouse2.08659315
22ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.89382062
23RARB_27405468_Chip-Seq_BRAIN_Mouse1.88298838
24RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.86482511
25AR_21572438_ChIP-Seq_LNCaP_Human1.81535343
26RBPJ_22232070_ChIP-Seq_NCS_Mouse1.68842724
27PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.66136483
28ZFP281_18757296_ChIP-ChIP_E14_Mouse1.64400938
29CTBP2_25329375_ChIP-Seq_LNCAP_Human1.63675166
30CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.62956446
31EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.62610668
32REST_18959480_ChIP-ChIP_MESCs_Mouse1.60883457
33NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.57632072
34RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.56050426
35PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.54920689
36* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.54824442
37CBX2_27304074_Chip-Seq_ESCs_Mouse1.53639908
38TAF15_26573619_Chip-Seq_HEK293_Human1.52563097
39SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.51811683
40SMAD4_21799915_ChIP-Seq_A2780_Human1.49708319
41* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.44985945
42CTBP1_25329375_ChIP-Seq_LNCAP_Human1.44803326
43THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.43689544
44CDX2_19796622_ChIP-Seq_MESCs_Mouse1.42291833
45SMAD3_21741376_ChIP-Seq_EPCs_Human1.41528690
46CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.40023078
47OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.38692896
48PIAS1_25552417_ChIP-Seq_VCAP_Human1.37263165
49* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.37166876
50SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36924392
51RING1B_27294783_Chip-Seq_ESCs_Mouse1.34563589
52VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.34192330
53ZFP57_27257070_Chip-Seq_ESCs_Mouse1.34002996
54RING1B_27294783_Chip-Seq_NPCs_Mouse1.33051794
55BMI1_23680149_ChIP-Seq_NPCS_Mouse1.32010879
56* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.30990849
57IKZF1_21737484_ChIP-ChIP_HCT116_Human1.29618580
58ESR2_21235772_ChIP-Seq_MCF-7_Human1.29440592
59* STAT3_23295773_ChIP-Seq_U87_Human1.28817051
60GATA1_26923725_Chip-Seq_HPCs_Mouse1.28681716
61AHR_22903824_ChIP-Seq_MCF-7_Human1.25875769
62MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.25349011
63* P300_19829295_ChIP-Seq_ESCs_Human1.23668574
64SOX2_21211035_ChIP-Seq_LN229_Gbm1.23120217
65TRIM28_21343339_ChIP-Seq_HEK293_Human1.23118822
66ZNF274_21170338_ChIP-Seq_K562_Hela1.22380081
67ARNT_22903824_ChIP-Seq_MCF-7_Human1.21906726
68AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.21413611
69* CTNNB1_20460455_ChIP-Seq_HCT116_Human1.20359190
70AR_19668381_ChIP-Seq_PC3_Human1.18778360
71RNF2_27304074_Chip-Seq_NSC_Mouse1.18674429
72TOP2B_26459242_ChIP-Seq_MCF-7_Human1.18485357
73TP53_20018659_ChIP-ChIP_R1E_Mouse1.16882731
74ERG_21242973_ChIP-ChIP_JURKAT_Human1.16456697
75GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15148653
76ISL1_27105846_Chip-Seq_CPCs_Mouse1.14827785
77EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.14760718
78* P53_22127205_ChIP-Seq_FIBROBLAST_Human1.14057080
79POU3F2_20337985_ChIP-ChIP_501MEL_Human1.13750177
80* TCF4_23295773_ChIP-Seq_U87_Human1.12973517
81EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.12645651
82ER_23166858_ChIP-Seq_MCF-7_Human1.12279879
83NR3C1_23031785_ChIP-Seq_PC12_Mouse1.12262925
84CTCF_27219007_Chip-Seq_Bcells_Human1.11780819
85DNAJC2_21179169_ChIP-ChIP_NT2_Human1.11644220
86YAP1_20516196_ChIP-Seq_MESCs_Mouse1.11314570
87IGF1R_20145208_ChIP-Seq_DFB_Human1.10277029
88WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.10182571
89* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.09616142
90ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.09016938
91TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.08943575
92ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.07978459
93NR3C1_21868756_ChIP-Seq_MCF10A_Human1.06729895
94TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06458463
95STAT6_21828071_ChIP-Seq_BEAS2B_Human1.05241140
96KDM2B_26808549_Chip-Seq_K562_Human1.04843695
97TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.04251756
98EP300_21415370_ChIP-Seq_HL-1_Mouse1.04135956
99* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.03978161
100AR_25329375_ChIP-Seq_VCAP_Human1.02193771
101OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.99488552
102* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.99313511
103* TET1_21490601_ChIP-Seq_MESCs_Mouse0.98984969
104SMAD_19615063_ChIP-ChIP_OVARY_Human0.98555311
105SMAD4_21741376_ChIP-Seq_HESCs_Human0.97928737
106RUNX2_22187159_ChIP-Seq_PCA_Human0.97793618
107RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.96968825
108TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95923782
109POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.95923782
110* SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.95473114
111SMAD3_21741376_ChIP-Seq_HESCs_Human0.95257128
112FUS_26573619_Chip-Seq_HEK293_Human0.94494547
113SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.93740708
114MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.93723905
115* SMAD3_21741376_ChIP-Seq_ESCs_Human0.92127458
116TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.91269940
117CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90739244
118* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.90579694
119LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90406836
120TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.89215148
121CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.88148472
122* SOX9_26525672_Chip-Seq_HEART_Mouse0.86997963
123NFIB_24661679_ChIP-Seq_LUNG_Mouse0.82049280

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.37811535
2MP0003880_abnormal_central_pattern3.93479290
3MP0004270_analgesia3.63821696
4MP0003635_abnormal_synaptic_transmissio3.17641777
5MP0005423_abnormal_somatic_nervous2.85420070
6MP0001486_abnormal_startle_reflex2.57508068
7MP0009745_abnormal_behavioral_response2.51546255
8MP0002063_abnormal_learning/memory/cond2.50281579
9MP0000778_abnormal_nervous_system2.48545450
10MP0002064_seizures2.47571965
11MP0009046_muscle_twitch2.47071741
12MP0002734_abnormal_mechanical_nocicepti2.38099889
13MP0002272_abnormal_nervous_system2.30654395
14MP0002572_abnormal_emotion/affect_behav2.18581812
15MP0004885_abnormal_endolymph2.13746429
16MP0000566_synostosis2.00880150
17MP0000920_abnormal_myelination1.95725653
18MP0001968_abnormal_touch/_nociception1.91096026
19MP0009780_abnormal_chondrocyte_physiolo1.89894633
20MP0005551_abnormal_eye_electrophysiolog1.88618527
21MP0002067_abnormal_sensory_capabilities1.76193154
22MP0004742_abnormal_vestibular_system1.73941569
23MP0002184_abnormal_innervation1.72453783
24MP0000955_abnormal_spinal_cord1.72041908
25MP0005645_abnormal_hypothalamus_physiol1.69601436
26MP0002822_catalepsy1.66980152
27MP0001440_abnormal_grooming_behavior1.66873201
28MP0003123_paternal_imprinting1.66677839
29MP0002733_abnormal_thermal_nociception1.66345740
30MP0003787_abnormal_imprinting1.64520420
31MP0002882_abnormal_neuron_morphology1.64010389
32MP0008569_lethality_at_weaning1.62772292
33MP0004924_abnormal_behavior1.60609585
34MP0005386_behavior/neurological_phenoty1.60609585
35MP0001970_abnormal_pain_threshold1.60335637
36MP0006072_abnormal_retinal_apoptosis1.59774987
37MP0002557_abnormal_social/conspecific_i1.56776587
38MP0002735_abnormal_chemical_nociception1.53569492
39MP0001529_abnormal_vocalization1.51712738
40MP0003634_abnormal_glial_cell1.47722401
41MP0004811_abnormal_neuron_physiology1.47585214
42MP0001984_abnormal_olfaction1.47389888
43MP0003329_amyloid_beta_deposits1.47297829
44MP0002229_neurodegeneration1.38096015
45MP0006276_abnormal_autonomic_nervous1.36766751
46MP0000569_abnormal_digit_pigmentation1.34867949
47MP0004858_abnormal_nervous_system1.34782713
48MP0001299_abnormal_eye_distance/1.34088372
49MP0002066_abnormal_motor_capabilities/c1.33925241
50MP0001502_abnormal_circadian_rhythm1.32132564
51MP0002909_abnormal_adrenal_gland1.31581180
52MP0001501_abnormal_sleep_pattern1.31487456
53MP0005409_darkened_coat_color1.29626694
54MP0002152_abnormal_brain_morphology1.27332302
55MP0001485_abnormal_pinna_reflex1.27222032
56MP0005646_abnormal_pituitary_gland1.24893906
57MP0002736_abnormal_nociception_after1.24264162
58MP0005253_abnormal_eye_physiology1.21590279
59MP0002249_abnormal_larynx_morphology1.21048405
60MP0000537_abnormal_urethra_morphology1.21043513
61MP0002752_abnormal_somatic_nervous1.20325302
62MP0003690_abnormal_glial_cell1.19904750
63MP0001905_abnormal_dopamine_level1.18905390
64MP0004142_abnormal_muscle_tone1.17807434
65MP0003632_abnormal_nervous_system1.17706892
66MP0001188_hyperpigmentation1.17603374
67MP0003122_maternal_imprinting1.16246540
68MP0000631_abnormal_neuroendocrine_gland1.14560921
69MP0003633_abnormal_nervous_system1.11332664
70MP0003631_nervous_system_phenotype1.09692557
71MP0000579_abnormal_nail_morphology1.09665867
72MP0005171_absent_coat_pigmentation1.09266321
73MP0001177_atelectasis1.08777989
74MP0005623_abnormal_meninges_morphology1.08455470
75MP0003121_genomic_imprinting1.05770950
76MP0000751_myopathy1.02998756
77MP0004145_abnormal_muscle_electrophysio1.02971822
78MP0003942_abnormal_urinary_system0.99698344
79MP0005195_abnormal_posterior_eye0.99440533
80MP0003283_abnormal_digestive_organ0.99326232
81MP0001963_abnormal_hearing_physiology0.99313112
82MP0002090_abnormal_vision0.97797878
83MP0005394_taste/olfaction_phenotype0.97134839
84MP0005499_abnormal_olfactory_system0.97134839
85MP0003119_abnormal_digestive_system0.94839458
86MP0003861_abnormal_nervous_system0.93496061
87MP0001346_abnormal_lacrimal_gland0.91136321
88MP0005187_abnormal_penis_morphology0.90586530
89MP0003938_abnormal_ear_development0.89332715
90MP0010386_abnormal_urinary_bladder0.89212423
91MP0004043_abnormal_pH_regulation0.88239501
92MP0002089_abnormal_postnatal_growth/wei0.87667569
93MP0003137_abnormal_impulse_conducting0.86080946
94MP0003890_abnormal_embryonic-extraembry0.85134267
95MP0003879_abnormal_hair_cell0.84268099
96MP0004085_abnormal_heartbeat0.83437112
97MP0000462_abnormal_digestive_system0.82342552
98MP0002081_perinatal_lethality0.80245459
99MP0000026_abnormal_inner_ear0.78037275
100MP0002069_abnormal_eating/drinking_beha0.77425080
101MP0000013_abnormal_adipose_tissue0.77098089
102MP0003136_yellow_coat_color0.75765755
103MP0003937_abnormal_limbs/digits/tail_de0.71804154
104MP0002082_postnatal_lethality0.71754828
105MP0010770_preweaning_lethality0.71754828
106MP0010030_abnormal_orbit_morphology0.71506797
107MP0002116_abnormal_craniofacial_bone0.70961666
108MP0010769_abnormal_survival0.70790080
109MP0003705_abnormal_hypodermis_morpholog0.70698585
110MP0002697_abnormal_eye_size0.70671250
111MP0005248_abnormal_Harderian_gland0.70589728
112MP0000534_abnormal_ureter_morphology0.70388692
113MP0004133_heterotaxia0.70156110
114MP0002234_abnormal_pharynx_morphology0.69988644
115MP0000049_abnormal_middle_ear0.69766454
116MP0001348_abnormal_lacrimal_gland0.69539611
117MP0001943_abnormal_respiration0.69323141
118MP0002751_abnormal_autonomic_nervous0.69302544
119MP0008789_abnormal_olfactory_epithelium0.68319401
120MP0000003_abnormal_adipose_tissue0.66301075
121MP0004134_abnormal_chest_morphology0.65784663
122MP0003385_abnormal_body_wall0.64993685
123MP0002638_abnormal_pupillary_reflex0.64689704

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)4.29239254
2Focal motor seizures (HP:0011153)4.12966949
3Focal seizures (HP:0007359)3.68243276
4Supranuclear gaze palsy (HP:0000605)3.63307345
5Abnormality of the corticospinal tract (HP:0002492)3.63017672
6Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.45844792
7Degeneration of the lateral corticospinal tracts (HP:0002314)3.45844792
8Neurofibrillary tangles (HP:0002185)3.40561148
9Epileptic encephalopathy (HP:0200134)3.31907594
10Action tremor (HP:0002345)3.18665870
11Ankle clonus (HP:0011448)3.18532241
12Visual hallucinations (HP:0002367)3.14953197
13Progressive cerebellar ataxia (HP:0002073)3.01848364
14Obstructive sleep apnea (HP:0002870)2.83468509
15Termporal pattern (HP:0011008)2.80406579
16Insidious onset (HP:0003587)2.80406579
17Spastic gait (HP:0002064)2.80245988
18Cerebral inclusion bodies (HP:0100314)2.79488519
19Atonic seizures (HP:0010819)2.75998012
20Excessive salivation (HP:0003781)2.73771799
21Drooling (HP:0002307)2.73771799
22Broad-based gait (HP:0002136)2.73332408
23Dysmetria (HP:0001310)2.70876071
24Febrile seizures (HP:0002373)2.69115422
25Megalencephaly (HP:0001355)2.66978669
26Congenital stationary night blindness (HP:0007642)2.53785144
27Urinary bladder sphincter dysfunction (HP:0002839)2.50806584
28Akinesia (HP:0002304)2.50637561
29Bronchomalacia (HP:0002780)2.49647381
30Central scotoma (HP:0000603)2.49492975
31Intention tremor (HP:0002080)2.48657496
32Abnormality of binocular vision (HP:0011514)2.48232660
33Diplopia (HP:0000651)2.48232660
34Absence seizures (HP:0002121)2.48198517
35Dysdiadochokinesis (HP:0002075)2.46818619
36Mutism (HP:0002300)2.45050674
37Limb dystonia (HP:0002451)2.41488617
38Genetic anticipation (HP:0003743)2.40006930
39Insomnia (HP:0100785)2.38910514
40Dialeptic seizures (HP:0011146)2.33959636
41Generalized tonic-clonic seizures (HP:0002069)2.32896957
42Turricephaly (HP:0000262)2.30362677
43Gaze-evoked nystagmus (HP:0000640)2.30022768
44Abnormality of the lower motor neuron (HP:0002366)2.26791853
45Alacrima (HP:0000522)2.26247999
46Aplasia involving bones of the upper limbs (HP:0009823)2.26176647
47Aplasia of the phalanges of the hand (HP:0009802)2.26176647
48Aplasia involving bones of the extremities (HP:0009825)2.26176647
49Abnormality of macular pigmentation (HP:0008002)2.25056342
50Hyperacusis (HP:0010780)2.25013298
51Pheochromocytoma (HP:0002666)2.24609013
52Scanning speech (HP:0002168)2.23853843
53Lower limb muscle weakness (HP:0007340)2.23705907
54Agitation (HP:0000713)2.19091148
55Onion bulb formation (HP:0003383)2.18877713
56Sleep apnea (HP:0010535)2.18527228
57Peripheral hypomyelination (HP:0007182)2.16887569
58Urinary urgency (HP:0000012)2.12909803
59Truncal ataxia (HP:0002078)2.12723936
60Aqueductal stenosis (HP:0002410)2.10724519
61Depression (HP:0000716)2.10685327
62Shallow orbits (HP:0000586)2.10496446
63Prolonged QT interval (HP:0001657)2.08644449
64EEG with generalized epileptiform discharges (HP:0011198)2.06528695
65Impaired vibration sensation in the lower limbs (HP:0002166)2.05598645
66Anxiety (HP:0000739)2.04784708
67Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.04161912
68Absent speech (HP:0001344)2.03235665
69Epileptiform EEG discharges (HP:0011182)2.01674482
70Abnormal eating behavior (HP:0100738)2.01489092
71Poor eye contact (HP:0000817)2.01009282
72Increased circulating renin level (HP:0000848)2.00867190
73Cutaneous finger syndactyly (HP:0010554)2.00272699
74Postural instability (HP:0002172)1.97167874
75Abnormality of salivation (HP:0100755)1.95767565
76Thickened helices (HP:0000391)1.94798720
77Hyperventilation (HP:0002883)1.94451479
78Renovascular hypertension (HP:0100817)1.94217411
79Retinal dysplasia (HP:0007973)1.93692040
80Hypsarrhythmia (HP:0002521)1.93161608
81Hemiparesis (HP:0001269)1.93059437
82Overriding aorta (HP:0002623)1.92680563
83Fetal akinesia sequence (HP:0001989)1.92568655
84Hepatoblastoma (HP:0002884)1.91740547
85Impaired social interactions (HP:0000735)1.87302788
86Abnormal social behavior (HP:0012433)1.87302788
87Cutaneous syndactyly (HP:0012725)1.86544553
88Elfin facies (HP:0004428)1.85863424
89Decreased central vision (HP:0007663)1.83879510
90Decreased lacrimation (HP:0000633)1.82949084
91Dyschromatopsia (HP:0007641)1.82923544
92Macroorchidism (HP:0000053)1.81930527
93Amblyopia (HP:0000646)1.80766703
94Anteriorly placed anus (HP:0001545)1.80595376
95Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.79765728
96Sensory axonal neuropathy (HP:0003390)1.79188780
97Neoplasm of the heart (HP:0100544)1.77751882
98Postural tremor (HP:0002174)1.77230109
99Torticollis (HP:0000473)1.76660038
100Exotropia (HP:0000577)1.76569684
101Blue irides (HP:0000635)1.75440106
102Hammertoe (HP:0001765)1.75171301
103Morphological abnormality of the pyramidal tract (HP:0002062)1.74363715
104Scotoma (HP:0000575)1.74007194
105Hypoplasia of the brainstem (HP:0002365)1.73811844
106Aplasia/Hypoplasia of the brainstem (HP:0007362)1.73811844
107Amyotrophic lateral sclerosis (HP:0007354)1.72478894
108Widely spaced teeth (HP:0000687)1.72190737
109Stereotypic behavior (HP:0000733)1.70239658
110Protruding tongue (HP:0010808)1.69721780
111Inappropriate behavior (HP:0000719)1.68839890
112Polyphagia (HP:0002591)1.68516681
113Open mouth (HP:0000194)1.68052757
114Progressive inability to walk (HP:0002505)1.68037345
115Neuroendocrine neoplasm (HP:0100634)1.67689609
116Gait imbalance (HP:0002141)1.67302222
117Specific learning disability (HP:0001328)1.66309439
118Annular pancreas (HP:0001734)1.65621604
119Choroideremia (HP:0001139)1.64855990
120Lower limb amyotrophy (HP:0007210)1.62318437
121Status epilepticus (HP:0002133)1.61520405
122Renal duplication (HP:0000075)1.61035822
123Focal dystonia (HP:0004373)1.59699634
124Pointed chin (HP:0000307)1.58788544
125Dysmetric saccades (HP:0000641)1.58218768
126Hypoventilation (HP:0002791)1.57793146
127Vertebral arch anomaly (HP:0008438)1.57700866
128Coronal craniosynostosis (HP:0004440)1.56756585
129Impaired smooth pursuit (HP:0007772)1.56703548
130Clonus (HP:0002169)1.55817738
131Tracheomalacia (HP:0002779)1.52209513
132Abnormality of the aortic arch (HP:0012303)1.52192978
133Distal upper limb amyotrophy (HP:0007149)1.51273790
134Upper limb amyotrophy (HP:0009129)1.51273790
135Broad metatarsal (HP:0001783)1.47955562
136Incomplete penetrance (HP:0003829)1.47410338
137Obsessive-compulsive behavior (HP:0000722)1.46798031
138Increased nuchal translucency (HP:0010880)1.46545548
139Hand muscle atrophy (HP:0009130)1.46487472
140Precocious puberty (HP:0000826)1.45747675
141Craniofacial dystonia (HP:0012179)1.44942995
142Arnold-Chiari malformation (HP:0002308)1.44654514
143Hemiplegia (HP:0002301)1.44135775

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.40702070
2NTRK32.71367842
3STK392.61722576
4EPHA42.50429348
5MAP3K92.35465041
6TNIK2.30402688
7MAP3K42.25144757
8PAK62.16537726
9OXSR12.16117880
10NTRK12.11505677
11NTRK22.05212667
12CASK1.96320160
13PRPF4B1.86540225
14UHMK11.85657206
15MINK11.81613715
16MAPK131.76226846
17RIPK11.73618668
18MAP2K71.64408743
19PRKD31.62113486
20WNK11.60858150
21PKN11.58576418
22PNCK1.56988906
23BCR1.56903780
24PHKG11.50076179
25PHKG21.50076179
26CDK51.42038211
27SGK2231.38038384
28SGK4941.38038384
29TRIB31.37389731
30DAPK21.33308970
31WNK41.30773936
32CAMK1G1.27119533
33PAK31.21090927
34ICK1.15549044
35CSNK1G21.13937579
36KSR21.10107236
37MARK21.05410726
38NEK61.04936901
39CAMKK11.03184437
40TYRO31.02865696
41MAP3K21.02853427
42MAP2K41.01401343
43CDK191.01399045
44CAMK2B0.99317945
45FGFR20.97984795
46EPHB20.97971678
47PRKCH0.97490490
48EPHB10.96636807
49KSR10.95097288
50DYRK20.94700886
51CAMK2D0.93356460
52CSNK1A1L0.91896314
53CSNK1G30.91370438
54CAMK2A0.91344459
55SIK20.90591072
56DMPK0.89407369
57ROCK20.89338651
58STK110.87910909
59PLK20.86946363
60EEF2K0.85703065
61CDK140.84327140
62CDK150.80293478
63LATS10.80157941
64WNK30.79700468
65PTK20.79145041
66PINK10.78850727
67CDK180.78377186
68PRKCE0.77522427
69CDK120.75618791
70SGK20.74247641
71INSRR0.73890158
72LATS20.73316334
73GRK50.73016603
74PRKCG0.72616196
75IRAK20.71589480
76ARAF0.71495161
77SGK10.70197602
78DYRK1A0.69855255
79CDK11A0.68544303
80MAPKAPK50.68376368
81ROCK10.66509764
82CSNK1G10.66116766
83ERBB20.66001851
84LIMK10.65784099
85EPHA20.65238370
86PKN20.64424398
87STK380.63886901
88LMTK20.63793020
89ERBB30.63677900
90RET0.63174677
91FGR0.62940736
92MTOR0.62094791
93FES0.59828662
94SGK30.59751643
95HIPK20.59534415
96PRKCZ0.58928600
97ALK0.57670216
98MET0.57195638
99FYN0.56520910
100RPS6KA20.54919151
101MAPK100.54584321
102CDC42BPA0.54475096
103BRSK10.53994248
104CAMKK20.53799099
105MST1R0.53760591
106CSNK1E0.53458244
107CAMK1D0.51370544
108FER0.49339810
109CAMK2G0.49092435
110DDR20.48894325
111PRKG10.48665719
112CAMK10.48662879
113TAOK10.48355625
114PRKD10.47238316
115PDGFRA0.47201750
116CAMK40.46563510
117RPS6KA30.46319861
118SIK10.43883053
119GSK3B0.41865565
120DAPK10.41841397
121PRKAA10.41430256
122FGFR10.40286675
123PDGFRB0.39131321
124RPS6KB10.38997897
125BRAF0.36768390

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050332.74129239
2GABAergic synapse_Homo sapiens_hsa047272.55881980
3Synaptic vesicle cycle_Homo sapiens_hsa047212.53671457
4Circadian entrainment_Homo sapiens_hsa047132.35721067
5Glutamatergic synapse_Homo sapiens_hsa047242.34265297
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.29528692
7Morphine addiction_Homo sapiens_hsa050322.27112672
8Olfactory transduction_Homo sapiens_hsa047402.16385011
9Dopaminergic synapse_Homo sapiens_hsa047281.95291353
10Phototransduction_Homo sapiens_hsa047441.91624476
11Cholinergic synapse_Homo sapiens_hsa047251.91524638
12Axon guidance_Homo sapiens_hsa043601.86808237
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.83970206
14Long-term potentiation_Homo sapiens_hsa047201.83503118
15Serotonergic synapse_Homo sapiens_hsa047261.82517056
16Salivary secretion_Homo sapiens_hsa049701.78962956
17Insulin secretion_Homo sapiens_hsa049111.78404113
18Amphetamine addiction_Homo sapiens_hsa050311.74847454
19Long-term depression_Homo sapiens_hsa047301.72199010
20Cocaine addiction_Homo sapiens_hsa050301.71978038
21Taste transduction_Homo sapiens_hsa047421.56843995
22Gastric acid secretion_Homo sapiens_hsa049711.55712174
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.51980985
24Renin secretion_Homo sapiens_hsa049241.51232534
25Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.46414604
26Aldosterone synthesis and secretion_Homo sapiens_hsa049251.45856333
27Gap junction_Homo sapiens_hsa045401.38105588
28Oxytocin signaling pathway_Homo sapiens_hsa049211.36409769
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.33788411
30Type II diabetes mellitus_Homo sapiens_hsa049301.31283465
31Vitamin B6 metabolism_Homo sapiens_hsa007501.26162498
32ErbB signaling pathway_Homo sapiens_hsa040121.22914237
33cAMP signaling pathway_Homo sapiens_hsa040241.18561732
34Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.17969512
35GnRH signaling pathway_Homo sapiens_hsa049121.17844247
36Bile secretion_Homo sapiens_hsa049761.13639452
37Calcium signaling pathway_Homo sapiens_hsa040201.12222502
38Dorso-ventral axis formation_Homo sapiens_hsa043201.12116329
39Estrogen signaling pathway_Homo sapiens_hsa049151.10489934
40Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.09795394
41Melanogenesis_Homo sapiens_hsa049161.09102883
42Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.07221075
43Glioma_Homo sapiens_hsa052141.05551607
44Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.04848556
45Phospholipase D signaling pathway_Homo sapiens_hsa040721.04132286
46Dilated cardiomyopathy_Homo sapiens_hsa054141.03792327
47Renal cell carcinoma_Homo sapiens_hsa052111.02799797
48Collecting duct acid secretion_Homo sapiens_hsa049661.02523854
49Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.02380091
50Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.02147993
51Phosphatidylinositol signaling system_Homo sapiens_hsa040701.00528424
52cGMP-PKG signaling pathway_Homo sapiens_hsa040220.99229759
53Vibrio cholerae infection_Homo sapiens_hsa051100.95879508
54Vascular smooth muscle contraction_Homo sapiens_hsa042700.95072829
55Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.94870505
56Choline metabolism in cancer_Homo sapiens_hsa052310.90963357
57Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.90959432
58Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.88658463
59Cardiac muscle contraction_Homo sapiens_hsa042600.87033858
60Pancreatic secretion_Homo sapiens_hsa049720.86715950
61Adherens junction_Homo sapiens_hsa045200.86530885
62Ras signaling pathway_Homo sapiens_hsa040140.86170445
63MAPK signaling pathway_Homo sapiens_hsa040100.79103407
64Fatty acid biosynthesis_Homo sapiens_hsa000610.78930351
65Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.78165146
66Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.76971980
67Sphingolipid signaling pathway_Homo sapiens_hsa040710.75716604
68Ether lipid metabolism_Homo sapiens_hsa005650.74804840
69Tight junction_Homo sapiens_hsa045300.74679337
70Alcoholism_Homo sapiens_hsa050340.74505603
71Hedgehog signaling pathway_Homo sapiens_hsa043400.74498803
72AMPK signaling pathway_Homo sapiens_hsa041520.73970616
73Wnt signaling pathway_Homo sapiens_hsa043100.73763176
74Glucagon signaling pathway_Homo sapiens_hsa049220.73158102
75Endometrial cancer_Homo sapiens_hsa052130.72272876
76Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.71915972
77Prion diseases_Homo sapiens_hsa050200.69038867
78Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.68120951
79Thyroid hormone synthesis_Homo sapiens_hsa049180.67552028
80Histidine metabolism_Homo sapiens_hsa003400.66697026
81Carbohydrate digestion and absorption_Homo sapiens_hsa049730.66088666
82Arginine biosynthesis_Homo sapiens_hsa002200.64361711
83* Endocytosis_Homo sapiens_hsa041440.64221337
84Ovarian steroidogenesis_Homo sapiens_hsa049130.64160699
85Rap1 signaling pathway_Homo sapiens_hsa040150.63272208
86Insulin signaling pathway_Homo sapiens_hsa049100.62714255
87Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.61081742
88Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.60760608
89Arginine and proline metabolism_Homo sapiens_hsa003300.59463967
90Thyroid hormone signaling pathway_Homo sapiens_hsa049190.59332276
91ECM-receptor interaction_Homo sapiens_hsa045120.59264177
92Protein digestion and absorption_Homo sapiens_hsa049740.58818759
93Lysine degradation_Homo sapiens_hsa003100.56760055
94Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.56065646
95Neurotrophin signaling pathway_Homo sapiens_hsa047220.54259568
96Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.52244186
97Inositol phosphate metabolism_Homo sapiens_hsa005620.52169518
98Notch signaling pathway_Homo sapiens_hsa043300.52085713
99Central carbon metabolism in cancer_Homo sapiens_hsa052300.51900341
100Focal adhesion_Homo sapiens_hsa045100.51141078
101Hippo signaling pathway_Homo sapiens_hsa043900.50701303
102Oocyte meiosis_Homo sapiens_hsa041140.49931703
103Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.49848175
104Basal cell carcinoma_Homo sapiens_hsa052170.48484752
105Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.47610045
106VEGF signaling pathway_Homo sapiens_hsa043700.47200807
107Steroid biosynthesis_Homo sapiens_hsa001000.47176369
108Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.47034656
109Circadian rhythm_Homo sapiens_hsa047100.46957104
110Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.46763569
111Melanoma_Homo sapiens_hsa052180.45699560
112Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.45306461
113Regulation of actin cytoskeleton_Homo sapiens_hsa048100.44515810
114Colorectal cancer_Homo sapiens_hsa052100.44407705
115mTOR signaling pathway_Homo sapiens_hsa041500.42705396
116Chemokine signaling pathway_Homo sapiens_hsa040620.41996696
117Non-small cell lung cancer_Homo sapiens_hsa052230.41833389
118Sphingolipid metabolism_Homo sapiens_hsa006000.41743986
119Mineral absorption_Homo sapiens_hsa049780.39697549
120Longevity regulating pathway - mammal_Homo sapiens_hsa042110.39388203

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