MCF2L

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 guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.54606537
2synaptic vesicle maturation (GO:0016188)5.34622642
3positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.19396287
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.06140725
5locomotory exploration behavior (GO:0035641)5.03009726
6vocalization behavior (GO:0071625)4.95284360
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.67743308
8synaptic vesicle docking involved in exocytosis (GO:0016081)4.63366567
9synaptic vesicle exocytosis (GO:0016079)4.59884250
10regulation of synaptic vesicle exocytosis (GO:2000300)4.53667171
11cerebellar granule cell differentiation (GO:0021707)4.37495337
12regulation of glutamate receptor signaling pathway (GO:1900449)4.33305293
13layer formation in cerebral cortex (GO:0021819)4.29189285
14glutamate secretion (GO:0014047)4.28333561
15protein localization to synapse (GO:0035418)4.28199508
16regulation of synapse structural plasticity (GO:0051823)4.14959660
17regulation of synaptic vesicle transport (GO:1902803)4.04347777
18axon ensheathment in central nervous system (GO:0032291)4.03517512
19central nervous system myelination (GO:0022010)4.03517512
20membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.02659655
21ionotropic glutamate receptor signaling pathway (GO:0035235)3.99881783
22neuron cell-cell adhesion (GO:0007158)3.99084497
23L-amino acid import (GO:0043092)3.95169096
24dendritic spine morphogenesis (GO:0060997)3.94565528
25neurotransmitter secretion (GO:0007269)3.86579588
26exploration behavior (GO:0035640)3.86535544
27regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.82916276
28synaptic transmission, glutamatergic (GO:0035249)3.81319016
29neurotransmitter-gated ion channel clustering (GO:0072578)3.78643602
30regulation of neuronal synaptic plasticity (GO:0048168)3.77895807
31regulation of long-term neuronal synaptic plasticity (GO:0048169)3.71430637
32regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.68500907
33glutamate receptor signaling pathway (GO:0007215)3.63878990
34regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.63070919
35cellular potassium ion homeostasis (GO:0030007)3.62383665
36activation of protein kinase A activity (GO:0034199)3.61777224
37cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.59887842
38positive regulation of synapse maturation (GO:0090129)3.59780491
39neuronal action potential propagation (GO:0019227)3.58114484
40neuron-neuron synaptic transmission (GO:0007270)3.52403640
41amino acid import (GO:0043090)3.49657090
42cell communication by electrical coupling (GO:0010644)3.48645088
43response to pheromone (GO:0019236)3.48434853
44neuron recognition (GO:0008038)3.45258717
45long-term memory (GO:0007616)3.44144801
46proline transport (GO:0015824)3.44081381
47cellular sodium ion homeostasis (GO:0006883)3.41657404
48dendrite morphogenesis (GO:0048813)3.41535149
49positive regulation of membrane potential (GO:0045838)3.39668830
50axonal fasciculation (GO:0007413)3.37970893
51potassium ion import (GO:0010107)3.35582797
52cerebellar Purkinje cell differentiation (GO:0021702)3.34382142
53regulation of excitatory postsynaptic membrane potential (GO:0060079)3.32758283
54auditory behavior (GO:0031223)3.31045066
55gamma-aminobutyric acid transport (GO:0015812)3.29944361
56positive regulation of synaptic transmission, GABAergic (GO:0032230)3.29235041
57membrane depolarization during action potential (GO:0086010)3.28749883
58cytoskeletal anchoring at plasma membrane (GO:0007016)3.28662402
59sodium ion export (GO:0071436)3.27908754
60regulation of dendritic spine morphogenesis (GO:0061001)3.23926034
61regulation of postsynaptic membrane potential (GO:0060078)3.23732842
62postsynaptic membrane organization (GO:0001941)3.14331389
63response to auditory stimulus (GO:0010996)3.14260477
64synaptic vesicle endocytosis (GO:0048488)3.13860031
65regulation of neurotransmitter secretion (GO:0046928)3.10295269
66negative regulation of synaptic transmission, GABAergic (GO:0032229)3.10204312
67positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.10191131
68neuromuscular process controlling balance (GO:0050885)3.09494853
69regulation of voltage-gated calcium channel activity (GO:1901385)3.08235785
70prepulse inhibition (GO:0060134)3.08001956
71presynaptic membrane organization (GO:0097090)3.07059193
72neurotransmitter transport (GO:0006836)3.06970595
73G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.06155842
74positive regulation of dendritic spine morphogenesis (GO:0061003)3.05685377
75negative regulation of cytosolic calcium ion concentration (GO:0051481)3.05685127
76cell migration in hindbrain (GO:0021535)3.04788477
77innervation (GO:0060384)3.03961804
78regulation of vesicle fusion (GO:0031338)3.03082930
79regulation of synaptic transmission, glutamatergic (GO:0051966)3.02031486
80positive regulation of neurotransmitter secretion (GO:0001956)3.01486543
81membrane hyperpolarization (GO:0060081)3.00422401
82transmission of nerve impulse (GO:0019226)2.99758087
83regulation of synaptic plasticity (GO:0048167)2.98747703
84synapse assembly (GO:0007416)2.98235257
85detection of calcium ion (GO:0005513)2.98052504
86positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.95429479
87positive regulation of neurotransmitter transport (GO:0051590)2.95402476
88cell differentiation in hindbrain (GO:0021533)2.95194321
89membrane depolarization (GO:0051899)2.93771472
90neuromuscular process controlling posture (GO:0050884)2.93493129
91regulation of dendritic spine development (GO:0060998)2.91592600
92positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.90235696
93chemosensory behavior (GO:0007635)2.89962121
94cell communication involved in cardiac conduction (GO:0086065)2.88048500
95regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.87705240
96dendritic spine organization (GO:0097061)2.87579326
97glycine transport (GO:0015816)2.86447159
98neuronal ion channel clustering (GO:0045161)2.86111697
99neuromuscular synaptic transmission (GO:0007274)2.85673292
100regulation of neurotransmitter transport (GO:0051588)2.85379067
101regulation of ARF protein signal transduction (GO:0032012)2.84610112
102regulation of synapse maturation (GO:0090128)2.83470160
103vesicle transport along microtubule (GO:0047496)2.82550239
104long-term synaptic potentiation (GO:0060291)2.82403359
105positive regulation of dendritic spine development (GO:0060999)2.82277535
106G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.81988364
107negative regulation of dendrite morphogenesis (GO:0050774)2.81674206
108central nervous system projection neuron axonogenesis (GO:0021952)2.81146179
109positive regulation of dendrite development (GO:1900006)2.79471341
110potassium ion homeostasis (GO:0055075)2.77462902
111gamma-aminobutyric acid signaling pathway (GO:0007214)2.77100714
112presynaptic membrane assembly (GO:0097105)2.77064568
113regulation of neurotransmitter levels (GO:0001505)2.76726657
114positive regulation of potassium ion transmembrane transport (GO:1901381)2.75942957
115cerebellar Purkinje cell layer development (GO:0021680)2.74649989
116mechanosensory behavior (GO:0007638)2.72641977
117neurotransmitter uptake (GO:0001504)2.72567722
118synapse organization (GO:0050808)2.72159141
119negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.71274156
120regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.70270779
121organelle transport along microtubule (GO:0072384)2.70121928
122neuromuscular process (GO:0050905)2.66439349
123regulation of synaptic transmission (GO:0050804)2.63493001

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.48543662
2GBX2_23144817_ChIP-Seq_PC3_Human3.31213192
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.93379025
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.86443862
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.80533575
6* DROSHA_22980978_ChIP-Seq_HELA_Human2.69145753
7REST_21632747_ChIP-Seq_MESCs_Mouse2.62952815
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.56493687
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.56493687
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.52990656
11EZH2_27304074_Chip-Seq_ESCs_Mouse2.48173384
12SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.45639825
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.42230373
14RARB_27405468_Chip-Seq_BRAIN_Mouse2.41863067
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.40614017
16SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.39365763
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.37374754
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.27880374
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.22647538
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.22067032
21EED_16625203_ChIP-ChIP_MESCs_Mouse2.15959050
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.15162762
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.09737336
24EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.97532324
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.95339266
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.87760924
27IKZF1_21737484_ChIP-ChIP_HCT116_Human1.86093683
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.83601024
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.82862753
30MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.69116493
31SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.57866218
32AR_21572438_ChIP-Seq_LNCaP_Human1.57425453
33SMAD4_21799915_ChIP-Seq_A2780_Human1.53350822
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.52790711
35ESR2_21235772_ChIP-Seq_MCF-7_Human1.48563422
36PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.48398867
37ERG_21242973_ChIP-ChIP_JURKAT_Human1.39899666
38ZNF274_21170338_ChIP-Seq_K562_Hela1.38331405
39CTBP1_25329375_ChIP-Seq_LNCAP_Human1.37303444
40RING1B_27294783_Chip-Seq_ESCs_Mouse1.35418689
41CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.34217045
42SOX2_21211035_ChIP-Seq_LN229_Gbm1.30485770
43PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.25646693
44WT1_25993318_ChIP-Seq_PODOCYTE_Human1.25628157
45ZNF217_24962896_ChIP-Seq_MCF-7_Human1.25436340
46* AR_19668381_ChIP-Seq_PC3_Human1.25358067
47RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.25179665
48ZFP281_27345836_Chip-Seq_ESCs_Mouse1.25107723
49* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.24771749
50SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.24760465
51* KDM2B_26808549_Chip-Seq_K562_Human1.24145861
52STAT3_23295773_ChIP-Seq_U87_Human1.24101933
53KDM2B_26808549_Chip-Seq_SUP-B15_Human1.22081236
54CBX2_27304074_Chip-Seq_ESCs_Mouse1.21203773
55RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.20687614
56CDX2_19796622_ChIP-Seq_MESCs_Mouse1.18641502
57RING1B_27294783_Chip-Seq_NPCs_Mouse1.17283018
58* SMAD3_21741376_ChIP-Seq_EPCs_Human1.17189374
59* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.16908427
60AR_25329375_ChIP-Seq_VCAP_Human1.15899615
61TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.15493455
62AHR_22903824_ChIP-Seq_MCF-7_Human1.15277112
63P300_19829295_ChIP-Seq_ESCs_Human1.14828346
64PIAS1_25552417_ChIP-Seq_VCAP_Human1.14301325
65DNAJC2_21179169_ChIP-ChIP_NT2_Human1.13541795
66* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.13301982
67ZFP57_27257070_Chip-Seq_ESCs_Mouse1.13219679
68BMI1_23680149_ChIP-Seq_NPCS_Mouse1.13142726
69TET1_21490601_ChIP-Seq_MESCs_Mouse1.13095998
70LXR_22292898_ChIP-Seq_THP-1_Human1.12320014
71YAP1_20516196_ChIP-Seq_MESCs_Mouse1.12233857
72ARNT_22903824_ChIP-Seq_MCF-7_Human1.12102631
73TOP2B_26459242_ChIP-Seq_MCF-7_Human1.11942937
74TAF15_26573619_Chip-Seq_HEK293_Human1.11090363
75GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07978601
76CTNNB1_20460455_ChIP-Seq_HCT116_Human1.07879471
77TCF4_23295773_ChIP-Seq_U87_Human1.07048916
78SMAD4_21741376_ChIP-Seq_HESCs_Human1.05312234
79WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.03824464
80* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.03726510
81SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.03697068
82IGF1R_20145208_ChIP-Seq_DFB_Human1.03498706
83* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.03052033
84OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.02761142
85* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.00408358
86* P53_22127205_ChIP-Seq_FIBROBLAST_Human1.00368691
87* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.00349663
88RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.00080427
89AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.99791089
90SMAD_19615063_ChIP-ChIP_OVARY_Human0.99347224
91NR3C1_21868756_ChIP-Seq_MCF10A_Human0.99063923
92SMAD3_21741376_ChIP-Seq_HESCs_Human0.98923781
93* SMC4_20622854_ChIP-Seq_HELA_Human0.98140342
94* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97721023
95RNF2_27304074_Chip-Seq_NSC_Mouse0.97516899
96* ZFP281_18757296_ChIP-ChIP_E14_Mouse0.97012442
97SMAD3_21741376_ChIP-Seq_ESCs_Human0.96409866
98TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.95024570
99* OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.94702868
100TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.93497025
101ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.93382569
102GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93350702
103* RUNX2_22187159_ChIP-Seq_PCA_Human0.93186813
104* OCT4_19829295_ChIP-Seq_ESCs_Human0.93179704
105SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.93146409
106VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.90742896
107* EP300_21415370_ChIP-Seq_HL-1_Mouse0.90356284
108TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89269619
109CTCF_27219007_Chip-Seq_Bcells_Human0.89096697
110* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.89025971
111POU3F2_20337985_ChIP-ChIP_501MEL_Human0.88969225
112* SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.88306357
113DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.86566430
114PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.86348967
115POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.86025940
116TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86025940
117NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.85272498
118GATA1_26923725_Chip-Seq_HPCs_Mouse0.83393018
119TP53_23651856_ChIP-Seq_MEFs_Mouse0.81397616
120TP53_20018659_ChIP-ChIP_R1E_Mouse0.81338391
121* KLF4_19829295_ChIP-Seq_ESCs_Human0.80354712
122* CREB1_26743006_Chip-Seq_LNCaP_Human0.79218652
123FOXA2_19822575_ChIP-Seq_HepG2_Human0.78979798
124ESR1_21235772_ChIP-Seq_MCF-7_Human0.77562553
125SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.76661973

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.78409856
2MP0003880_abnormal_central_pattern3.84430015
3MP0003635_abnormal_synaptic_transmissio3.79091553
4MP0004270_analgesia3.56124296
5MP0002063_abnormal_learning/memory/cond3.05141614
6MP0009745_abnormal_behavioral_response2.92872018
7MP0005423_abnormal_somatic_nervous2.90082738
8MP0009046_muscle_twitch2.75143409
9MP0002822_catalepsy2.73529661
10MP0002064_seizures2.67345450
11MP0002734_abnormal_mechanical_nocicepti2.60537169
12MP0001968_abnormal_touch/_nociception2.53156942
13MP0002572_abnormal_emotion/affect_behav2.49934250
14MP0009780_abnormal_chondrocyte_physiolo2.39961104
15MP0002909_abnormal_adrenal_gland2.36179735
16MP0002272_abnormal_nervous_system2.30593498
17MP0001486_abnormal_startle_reflex2.30500513
18MP0002735_abnormal_chemical_nociception2.09152992
19MP0001984_abnormal_olfaction1.97859293
20MP0002184_abnormal_innervation1.94691113
21MP0002733_abnormal_thermal_nociception1.94489550
22MP0001501_abnormal_sleep_pattern1.92927183
23MP0003690_abnormal_glial_cell1.91994889
24MP0000778_abnormal_nervous_system1.86213285
25MP0002067_abnormal_sensory_capabilities1.84565043
26MP0001970_abnormal_pain_threshold1.82299580
27MP0008569_lethality_at_weaning1.81837934
28MP0003283_abnormal_digestive_organ1.78528068
29MP0002736_abnormal_nociception_after1.77740718
30MP0004811_abnormal_neuron_physiology1.75544246
31MP0004858_abnormal_nervous_system1.75381121
32MP0002557_abnormal_social/conspecific_i1.73813776
33MP0001440_abnormal_grooming_behavior1.73558001
34MP0003879_abnormal_hair_cell1.70615365
35MP0005645_abnormal_hypothalamus_physiol1.65062888
36MP0005646_abnormal_pituitary_gland1.64101498
37MP0005386_behavior/neurological_phenoty1.60098200
38MP0004924_abnormal_behavior1.60098200
39MP0005409_darkened_coat_color1.58862198
40MP0000955_abnormal_spinal_cord1.57060592
41MP0003123_paternal_imprinting1.54752946
42MP0001502_abnormal_circadian_rhythm1.46737672
43MP0000013_abnormal_adipose_tissue1.45079557
44MP0002882_abnormal_neuron_morphology1.45015133
45MP0002837_dystrophic_cardiac_calcinosis1.42086268
46MP0005551_abnormal_eye_electrophysiolog1.40869011
47MP0000920_abnormal_myelination1.40136983
48MP0010386_abnormal_urinary_bladder1.39044473
49MP0004885_abnormal_endolymph1.38830113
50MP0006276_abnormal_autonomic_nervous1.38519076
51MP0003787_abnormal_imprinting1.36640686
52MP0003329_amyloid_beta_deposits1.36474421
53MP0002066_abnormal_motor_capabilities/c1.29203377
54MP0004145_abnormal_muscle_electrophysio1.27769893
55MP0003633_abnormal_nervous_system1.27327993
56MP0000751_myopathy1.26697141
57MP0001188_hyperpigmentation1.24484592
58MP0006072_abnormal_retinal_apoptosis1.22473715
59MP0004215_abnormal_myocardial_fiber1.20754015
60MP0008961_abnormal_basal_metabolism1.20698376
61MP0004085_abnormal_heartbeat1.14769671
62MP0003136_yellow_coat_color1.13930739
63MP0000569_abnormal_digit_pigmentation1.11289594
64MP0002152_abnormal_brain_morphology1.07683260
65MP0002638_abnormal_pupillary_reflex1.07398904
66MP0005394_taste/olfaction_phenotype1.06554293
67MP0005499_abnormal_olfactory_system1.06554293
68MP0005670_abnormal_white_adipose1.04579213
69MP0002229_neurodegeneration1.04084397
70MP0004043_abnormal_pH_regulation0.99761976
71MP0005171_absent_coat_pigmentation0.98706790
72MP0003631_nervous_system_phenotype0.98301143
73MP0000631_abnormal_neuroendocrine_gland0.96920100
74MP0003122_maternal_imprinting0.96221430
75MP0005167_abnormal_blood-brain_barrier0.96078713
76MP0010234_abnormal_vibrissa_follicle0.95373838
77MP0002234_abnormal_pharynx_morphology0.94294185
78MP0000566_synostosis0.92014048
79MP0002069_abnormal_eating/drinking_beha0.91633514
80MP0003137_abnormal_impulse_conducting0.91483895
81MP0001986_abnormal_taste_sensitivity0.91414839
82MP0005187_abnormal_penis_morphology0.90577751
83MP0004742_abnormal_vestibular_system0.87897238
84MP0005253_abnormal_eye_physiology0.87708010
85MP0002090_abnormal_vision0.85829417
86MP0002752_abnormal_somatic_nervous0.85735163
87MP0004142_abnormal_muscle_tone0.83189870
88MP0005535_abnormal_body_temperature0.82770906
89MP0001529_abnormal_vocalization0.82568330
90MP0004147_increased_porphyrin_level0.80451081
91MP0003634_abnormal_glial_cell0.79278799
92MP0001348_abnormal_lacrimal_gland0.78778704
93MP0001177_atelectasis0.77645649
94MP0002089_abnormal_postnatal_growth/wei0.75885180
95MP0003183_abnormal_peptide_metabolism0.74454061
96MP0004233_abnormal_muscle_weight0.74265576
97MP0000604_amyloidosis0.73812582
98MP0004484_altered_response_of0.73010021
99MP0005377_hearing/vestibular/ear_phenot0.72374149
100MP0003878_abnormal_ear_physiology0.72374149
101MP0001485_abnormal_pinna_reflex0.72050673
102MP0004036_abnormal_muscle_relaxation0.71468180
103MP0001963_abnormal_hearing_physiology0.71433936
104MP0008872_abnormal_physiological_respon0.68419542
105MP0001299_abnormal_eye_distance/0.67363421
106MP0000003_abnormal_adipose_tissue0.66211101
107MP0004130_abnormal_muscle_cell0.65611444
108MP0001905_abnormal_dopamine_level0.65341560
109MP0004510_myositis0.65330431
110MP0003121_genomic_imprinting0.65251029
111MP0008874_decreased_physiological_sensi0.65134386
112MP0000026_abnormal_inner_ear0.63823681
113MP0005620_abnormal_muscle_contractility0.63449695
114MP0003045_fibrosis0.63243725
115MP0002693_abnormal_pancreas_physiology0.62547619
116MP0002249_abnormal_larynx_morphology0.61941094
117MP0003632_abnormal_nervous_system0.60797543
118MP0001664_abnormal_digestion0.60750859
119MP0003172_abnormal_lysosome_physiology0.60077951
120MP0003861_abnormal_nervous_system0.58665092
121MP0004084_abnormal_cardiac_muscle0.58575245
122MP0005448_abnormal_energy_balance0.57759173
123MP0001346_abnormal_lacrimal_gland0.56093334
124MP0000579_abnormal_nail_morphology0.55566257
125MP0010769_abnormal_survival0.55115050
126MP0001765_abnormal_ion_homeostasis0.54963641

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.73345473
2Myokymia (HP:0002411)5.50765875
3Focal seizures (HP:0007359)4.80316458
4Visual hallucinations (HP:0002367)4.73237197
5Epileptic encephalopathy (HP:0200134)4.05808613
6Progressive cerebellar ataxia (HP:0002073)4.02762602
7Febrile seizures (HP:0002373)3.82096608
8Action tremor (HP:0002345)3.65102370
9Atonic seizures (HP:0010819)3.60431492
10Absence seizures (HP:0002121)3.42461065
11Supranuclear gaze palsy (HP:0000605)3.38212667
12Broad-based gait (HP:0002136)3.21403062
13Generalized tonic-clonic seizures (HP:0002069)3.17992863
14Ankle clonus (HP:0011448)3.08795462
15Dialeptic seizures (HP:0011146)3.05573055
16Depression (HP:0000716)3.03516710
17Poor eye contact (HP:0000817)2.99557909
18Akinesia (HP:0002304)2.95909043
19Gaze-evoked nystagmus (HP:0000640)2.88175446
20Genetic anticipation (HP:0003743)2.88094086
21Hemiparesis (HP:0001269)2.86161228
22Dysdiadochokinesis (HP:0002075)2.86040004
23Truncal ataxia (HP:0002078)2.84304962
24Ventricular fibrillation (HP:0001663)2.78090053
25Prolonged QT interval (HP:0001657)2.76167448
26Sleep apnea (HP:0010535)2.72935036
27Agitation (HP:0000713)2.72433298
28Papilledema (HP:0001085)2.72112942
29Anxiety (HP:0000739)2.72097623
30Mutism (HP:0002300)2.71938240
31Abnormal social behavior (HP:0012433)2.69934684
32Impaired social interactions (HP:0000735)2.69934684
33Central scotoma (HP:0000603)2.67351758
34Impaired vibration sensation in the lower limbs (HP:0002166)2.66075034
35Status epilepticus (HP:0002133)2.65732275
36Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.62983433
37Amblyopia (HP:0000646)2.61721481
38Urinary bladder sphincter dysfunction (HP:0002839)2.59512079
39Impaired smooth pursuit (HP:0007772)2.57377730
40Epileptiform EEG discharges (HP:0011182)2.56927492
41Drooling (HP:0002307)2.54451263
42Excessive salivation (HP:0003781)2.54451263
43Postural instability (HP:0002172)2.53765274
44Abnormality of the lower motor neuron (HP:0002366)2.53069162
45EEG with generalized epileptiform discharges (HP:0011198)2.52612609
46Abnormal EKG (HP:0003115)2.51902116
47Cerebral hypomyelination (HP:0006808)2.50505431
48Limb dystonia (HP:0002451)2.45940867
49Abnormal eating behavior (HP:0100738)2.45610848
50Dysmetria (HP:0001310)2.44195127
51Bundle branch block (HP:0011710)2.43483582
52Neuronal loss in central nervous system (HP:0002529)2.42050426
53Torticollis (HP:0000473)2.41783821
54Hypsarrhythmia (HP:0002521)2.37164139
55Hemiplegia (HP:0002301)2.35112685
56Abnormality of binocular vision (HP:0011514)2.30540054
57Diplopia (HP:0000651)2.30540054
58Dysmetric saccades (HP:0000641)2.28530563
59Cerebral aneurysm (HP:0004944)2.28099571
60Hyperventilation (HP:0002883)2.27245743
61Syncope (HP:0001279)2.23398541
62Pheochromocytoma (HP:0002666)2.21994331
63Clonus (HP:0002169)2.20012730
64Stereotypic behavior (HP:0000733)2.19976204
65Peripheral hypomyelination (HP:0007182)2.19917242
66Urinary urgency (HP:0000012)2.18687514
67Abnormality of ocular smooth pursuit (HP:0000617)2.18259501
68Scanning speech (HP:0002168)2.16793979
69Megalencephaly (HP:0001355)2.16726702
70Tetraplegia (HP:0002445)2.15174287
71Intention tremor (HP:0002080)2.14424935
72Bronchomalacia (HP:0002780)2.14423885
73Heart block (HP:0012722)2.14072771
74Rapidly progressive (HP:0003678)2.13407754
75Insomnia (HP:0100785)2.13260649
76Focal dystonia (HP:0004373)2.13192832
77Blue irides (HP:0000635)2.12641808
78Ocular albinism (HP:0001107)2.08124163
79Spastic gait (HP:0002064)2.07296414
80Rigidity (HP:0002063)2.06810466
81Termporal pattern (HP:0011008)2.06541548
82Insidious onset (HP:0003587)2.06541548
83Sudden death (HP:0001699)2.06051040
84Iris hypopigmentation (HP:0007730)2.04554708
85Bradykinesia (HP:0002067)2.02551131
86Lower limb muscle weakness (HP:0007340)1.99918767
87Primary atrial arrhythmia (HP:0001692)1.99457803
88Neoplasm of the heart (HP:0100544)1.98172918
89Atrial fibrillation (HP:0005110)1.97149921
90Pointed chin (HP:0000307)1.97137506
91Spinal canal stenosis (HP:0003416)1.95775654
92Abnormal atrioventricular conduction (HP:0005150)1.95071786
93Neurofibrillary tangles (HP:0002185)1.92577280
94Morphological abnormality of the pyramidal tract (HP:0002062)1.90475878
95Abnormality of the corticospinal tract (HP:0002492)1.90207534
96Progressive inability to walk (HP:0002505)1.90010330
97Lower limb asymmetry (HP:0100559)1.89858948
98Cerebral inclusion bodies (HP:0100314)1.89594055
99Amyotrophic lateral sclerosis (HP:0007354)1.89308322
100Abnormality of macular pigmentation (HP:0008002)1.88682245
101Absent speech (HP:0001344)1.88412345
102Craniofacial dystonia (HP:0012179)1.87673464
103Fetal akinesia sequence (HP:0001989)1.87355251
104Spastic tetraparesis (HP:0001285)1.86450051
105Decreased circulating renin level (HP:0003351)1.85941767
106Bradycardia (HP:0001662)1.85201521
107Obstructive sleep apnea (HP:0002870)1.84795846
108Lower limb amyotrophy (HP:0007210)1.82649899
109Annular pancreas (HP:0001734)1.82195252
110Supraventricular tachycardia (HP:0004755)1.81876538
111Polyphagia (HP:0002591)1.78967882
112Neuroendocrine neoplasm (HP:0100634)1.78269033
113Supraventricular arrhythmia (HP:0005115)1.78058758
114Incomplete penetrance (HP:0003829)1.76897215
115Inappropriate behavior (HP:0000719)1.76783346
116Gait imbalance (HP:0002141)1.76729334
117Aplasia involving bones of the extremities (HP:0009825)1.73687095
118Aplasia involving bones of the upper limbs (HP:0009823)1.73687095
119Aplasia of the phalanges of the hand (HP:0009802)1.73687095
120Scotoma (HP:0000575)1.73330727
121Specific learning disability (HP:0001328)1.71284390
122Impaired vibratory sensation (HP:0002495)1.70923592
123Gait ataxia (HP:0002066)1.70862216
124Resting tremor (HP:0002322)1.70034648
125Thickened helices (HP:0000391)1.67340444

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.73650300
2MARK14.25931002
3EPHA43.60316326
4MAP3K93.31990246
5MAP3K42.61767034
6DAPK22.53427567
7MINK12.44795003
8TNIK2.44437088
9PRKD32.21076217
10NTRK22.18712122
11MAP2K72.12920344
12PAK61.99466315
13CAMKK11.87919338
14PHKG11.71062102
15PHKG21.71062102
16MAPK131.65124666
17PRPF4B1.62220794
18KSR21.55317930
19NTRK11.54010172
20CASK1.53543501
21CDK51.50233542
22INSRR1.42710482
23KSR11.42034556
24SIK21.39114115
25CAMKK21.37309283
26MAP2K41.37186948
27STK381.36512094
28MAP3K21.30769251
29DAPK11.28137089
30RIPK11.27156961
31UHMK11.23872258
32TRIB31.15247267
33MAPK121.08662038
34MARK21.08201352
35ICK1.07988059
36RIPK41.05925624
37SGK2231.05758837
38SGK4941.05758837
39PRKCG1.04974557
40PINK11.04266457
41LMTK21.04107362
42GRK51.01748201
43PRKCH1.01240110
44TAOK10.98450345
45NEK60.98032405
46SGK20.95052583
47CDC42BPA0.93924959
48TYRO30.93833862
49PAK30.92028220
50PLK20.91507212
51STK110.89897226
52ERBB30.88438443
53FES0.87776567
54TNK20.87583748
55PKN10.87159889
56DYRK1A0.86569375
57CAMK2A0.85551901
58ERBB20.84371577
59CAMK10.83494360
60RET0.80334038
61SGK30.79787797
62MAP3K120.79734482
63CAMK2G0.78751706
64SGK10.76061280
65WNK30.75036564
66CAMK1G0.70040985
67FER0.69695890
68WNK10.69569476
69CAMK2B0.68587558
70MAP2K60.66431542
71CSNK1G20.65799866
72RPS6KA20.64977573
73OXSR10.64139584
74CAMK40.62323031
75CDK180.62241458
76CDK140.62175411
77PRKCE0.61621653
78MAP3K10.61484879
79TIE10.61154521
80CDK150.61010110
81ALK0.60404880
82EEF2K0.59806866
83CAMK2D0.59042564
84PNCK0.56694612
85MAP3K130.56503353
86LATS20.56298352
87HIPK20.55862302
88PRKCZ0.55647956
89SCYL20.55501142
90CAMK1D0.55230476
91RPS6KA30.53522501
92CDK11A0.49668659
93PDGFRA0.48479560
94PRKAA10.48386550
95PDPK10.46348582
96PTK2B0.45847810
97AKT30.45805466
98FYN0.43537953
99ROCK20.42722111
100MAPK80.42218123
101WNK40.41282723
102ARAF0.40863227
103PDK10.40689453
104PRKG10.39836897
105MAPK100.39413569
106CDK190.38710982
107PRKD20.38055103
108FRK0.37905887
109PRKD10.36945159
110DMPK0.36492411
111MAP3K70.36333898
112NEK10.36068261
113BMPR20.34836225
114PRKCB0.34223047
115FGFR20.33769797
116STK390.33399227
117GSK3B0.33333594
118ROCK10.33204697
119MAP2K10.32916916
120PRKACA0.32655388
121MAPK150.31626225
122MAP3K60.30719088
123PRKCA0.30574034
124SRC0.30565961

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.09362192
2Synaptic vesicle cycle_Homo sapiens_hsa047212.87145468
3Olfactory transduction_Homo sapiens_hsa047402.73551118
4Circadian entrainment_Homo sapiens_hsa047132.64287254
5GABAergic synapse_Homo sapiens_hsa047272.52750141
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.42851177
7Morphine addiction_Homo sapiens_hsa050322.39257565
8Glutamatergic synapse_Homo sapiens_hsa047242.39240280
9Long-term potentiation_Homo sapiens_hsa047202.34714102
10Insulin secretion_Homo sapiens_hsa049112.34231655
11Amphetamine addiction_Homo sapiens_hsa050312.19077709
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.09231908
13Dopaminergic synapse_Homo sapiens_hsa047282.06288600
14Cholinergic synapse_Homo sapiens_hsa047251.94120715
15Salivary secretion_Homo sapiens_hsa049701.93909457
16Taste transduction_Homo sapiens_hsa047421.89583889
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.84091124
18Gastric acid secretion_Homo sapiens_hsa049711.74101112
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.71922515
20Renin secretion_Homo sapiens_hsa049241.69668285
21Cocaine addiction_Homo sapiens_hsa050301.68462065
22Type II diabetes mellitus_Homo sapiens_hsa049301.65919266
23Oxytocin signaling pathway_Homo sapiens_hsa049211.57198983
24Serotonergic synapse_Homo sapiens_hsa047261.50173000
25Long-term depression_Homo sapiens_hsa047301.48213786
26Calcium signaling pathway_Homo sapiens_hsa040201.47269481
27Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.46296004
28Phototransduction_Homo sapiens_hsa047441.40000384
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.37139158
30Gap junction_Homo sapiens_hsa045401.35420762
31GnRH signaling pathway_Homo sapiens_hsa049121.33643707
32cAMP signaling pathway_Homo sapiens_hsa040241.29028235
33Estrogen signaling pathway_Homo sapiens_hsa049151.22563676
34Axon guidance_Homo sapiens_hsa043601.17812439
35Phosphatidylinositol signaling system_Homo sapiens_hsa040701.17054703
36cGMP-PKG signaling pathway_Homo sapiens_hsa040221.16653516
37Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.15693602
38Dilated cardiomyopathy_Homo sapiens_hsa054141.07643681
39Pancreatic secretion_Homo sapiens_hsa049721.06907235
40Glioma_Homo sapiens_hsa052141.04909306
41Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.99424273
42Collecting duct acid secretion_Homo sapiens_hsa049660.99377009
43Melanogenesis_Homo sapiens_hsa049160.99241589
44Vitamin B6 metabolism_Homo sapiens_hsa007500.97822805
45Cardiac muscle contraction_Homo sapiens_hsa042600.97612863
46ErbB signaling pathway_Homo sapiens_hsa040120.95589474
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.95496454
48Carbohydrate digestion and absorption_Homo sapiens_hsa049730.93181487
49Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.92364370
50Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.90537241
51Circadian rhythm_Homo sapiens_hsa047100.89820082
52Histidine metabolism_Homo sapiens_hsa003400.89435221
53Thyroid hormone synthesis_Homo sapiens_hsa049180.88438033
54Dorso-ventral axis formation_Homo sapiens_hsa043200.87552797
55Vibrio cholerae infection_Homo sapiens_hsa051100.86528073
56Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.86333687
57Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.85883538
58Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.85858445
59Phospholipase D signaling pathway_Homo sapiens_hsa040720.84834566
60Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.80509198
61Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.78911697
62Endometrial cancer_Homo sapiens_hsa052130.74168556
63Glucagon signaling pathway_Homo sapiens_hsa049220.71571343
64Neurotrophin signaling pathway_Homo sapiens_hsa047220.69647013
65Thyroid hormone signaling pathway_Homo sapiens_hsa049190.69284653
66MAPK signaling pathway_Homo sapiens_hsa040100.68250491
67Choline metabolism in cancer_Homo sapiens_hsa052310.67537868
68Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.67014087
69VEGF signaling pathway_Homo sapiens_hsa043700.66840053
70Maturity onset diabetes of the young_Homo sapiens_hsa049500.66819715
71Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.66247790
72Longevity regulating pathway - mammal_Homo sapiens_hsa042110.65530964
73mTOR signaling pathway_Homo sapiens_hsa041500.65394348
74Oocyte meiosis_Homo sapiens_hsa041140.64886335
75Arginine biosynthesis_Homo sapiens_hsa002200.62640651
76Type I diabetes mellitus_Homo sapiens_hsa049400.60851308
77Ras signaling pathway_Homo sapiens_hsa040140.60533109
78Insulin signaling pathway_Homo sapiens_hsa049100.60024954
79Alcoholism_Homo sapiens_hsa050340.59959557
80ABC transporters_Homo sapiens_hsa020100.59613734
81Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.58752358
82Rap1 signaling pathway_Homo sapiens_hsa040150.58199751
83Inositol phosphate metabolism_Homo sapiens_hsa005620.57048123
84Fatty acid biosynthesis_Homo sapiens_hsa000610.55674572
85Arginine and proline metabolism_Homo sapiens_hsa003300.54123109
86Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.52612288
87Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.51616251
88Mineral absorption_Homo sapiens_hsa049780.51096625
89Renal cell carcinoma_Homo sapiens_hsa052110.50894633
90Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.50044990
91Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.47593139
92Endocytosis_Homo sapiens_hsa041440.46642811
93Sphingolipid signaling pathway_Homo sapiens_hsa040710.45576380
94Wnt signaling pathway_Homo sapiens_hsa043100.44602565
95Bile secretion_Homo sapiens_hsa049760.44043343
96Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.43183732
97Glycerophospholipid metabolism_Homo sapiens_hsa005640.43095774
98Ovarian steroidogenesis_Homo sapiens_hsa049130.41753257
99Cyanoamino acid metabolism_Homo sapiens_hsa004600.41004429
100Prolactin signaling pathway_Homo sapiens_hsa049170.40557563
101beta-Alanine metabolism_Homo sapiens_hsa004100.39544329
102Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.38460599
103Non-small cell lung cancer_Homo sapiens_hsa052230.38336109
104PPAR signaling pathway_Homo sapiens_hsa033200.37008513
105Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.36978053
106Chemokine signaling pathway_Homo sapiens_hsa040620.36513379
107SNARE interactions in vesicular transport_Homo sapiens_hsa041300.35161670
108Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.34862726
109Ether lipid metabolism_Homo sapiens_hsa005650.34644693
110Prion diseases_Homo sapiens_hsa050200.33919417
111Colorectal cancer_Homo sapiens_hsa052100.33662959
112Notch signaling pathway_Homo sapiens_hsa043300.32655943
113Tight junction_Homo sapiens_hsa045300.32553532
114Platelet activation_Homo sapiens_hsa046110.31532874
115Insulin resistance_Homo sapiens_hsa049310.31090988
116AMPK signaling pathway_Homo sapiens_hsa041520.31015674
117Protein digestion and absorption_Homo sapiens_hsa049740.30936650
118Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.27021182
119Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.26873443

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