FRRS1L

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 component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.88897576
2positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.79204328
3locomotory exploration behavior (GO:0035641)5.77751923
4vocalization behavior (GO:0071625)5.68150260
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.52193471
6ionotropic glutamate receptor signaling pathway (GO:0035235)5.42005795
7synaptic vesicle exocytosis (GO:0016079)5.41693699
8neuronal action potential propagation (GO:0019227)5.30059444
9synaptic vesicle maturation (GO:0016188)5.25907475
10glutamate secretion (GO:0014047)5.21547767
11positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.20674489
12regulation of glutamate receptor signaling pathway (GO:1900449)5.02561471
13glutamate receptor signaling pathway (GO:0007215)5.00210091
14regulation of synaptic vesicle exocytosis (GO:2000300)4.91918292
15synaptic vesicle docking involved in exocytosis (GO:0016081)4.90934492
16protein localization to synapse (GO:0035418)4.88291433
17synaptic transmission, glutamatergic (GO:0035249)4.76495485
18neuron cell-cell adhesion (GO:0007158)4.76466230
19exploration behavior (GO:0035640)4.54156450
20neuron-neuron synaptic transmission (GO:0007270)4.52521857
21regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.51151096
22regulation of long-term neuronal synaptic plasticity (GO:0048169)4.47797130
23regulation of synaptic vesicle transport (GO:1902803)4.42172565
24neurotransmitter secretion (GO:0007269)4.35955323
25regulation of neuronal synaptic plasticity (GO:0048168)4.34844871
26neurotransmitter-gated ion channel clustering (GO:0072578)4.24933622
27gamma-aminobutyric acid signaling pathway (GO:0007214)4.24912458
28long-term memory (GO:0007616)4.23174090
29regulation of excitatory postsynaptic membrane potential (GO:0060079)4.21548546
30G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.06441123
31gamma-aminobutyric acid transport (GO:0015812)4.02882757
32positive regulation of synapse maturation (GO:0090129)4.02233432
33regulation of postsynaptic membrane potential (GO:0060078)4.00652139
34cellular potassium ion homeostasis (GO:0030007)3.96107443
35membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.95128360
36positive regulation of membrane potential (GO:0045838)3.91312915
37cerebellar granule cell differentiation (GO:0021707)3.90525973
38regulation of synapse structural plasticity (GO:0051823)3.86267450
39negative regulation of synaptic transmission, GABAergic (GO:0032229)3.84735929
40long-term synaptic potentiation (GO:0060291)3.84366953
41presynaptic membrane assembly (GO:0097105)3.81056514
42dendritic spine morphogenesis (GO:0060997)3.79848401
43regulation of synaptic plasticity (GO:0048167)3.79135367
44neuron recognition (GO:0008038)3.66563793
45transmission of nerve impulse (GO:0019226)3.66075792
46presynaptic membrane organization (GO:0097090)3.64487435
47cerebellar Purkinje cell differentiation (GO:0021702)3.64302942
48layer formation in cerebral cortex (GO:0021819)3.63915009
49regulation of dendritic spine morphogenesis (GO:0061001)3.63636716
50regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.60433869
51neurotransmitter transport (GO:0006836)3.60307043
52regulation of synaptic transmission, glutamatergic (GO:0051966)3.59445032
53serotonin metabolic process (GO:0042428)3.59157915
54postsynaptic membrane organization (GO:0001941)3.56127142
55synaptic vesicle endocytosis (GO:0048488)3.52369345
56regulation of neurotransmitter secretion (GO:0046928)3.51562983
57behavioral response to nicotine (GO:0035095)3.51065248
58central nervous system myelination (GO:0022010)3.49570441
59axon ensheathment in central nervous system (GO:0032291)3.49570441
60response to histamine (GO:0034776)3.49011328
61positive regulation of neurotransmitter secretion (GO:0001956)3.43518654
62positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.40077179
63membrane depolarization (GO:0051899)3.39736811
64axonal fasciculation (GO:0007413)3.39227598
65neuromuscular process controlling balance (GO:0050885)3.35224250
66positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.34563324
67behavioral defense response (GO:0002209)3.34239290
68behavioral fear response (GO:0001662)3.34239290
69primary amino compound metabolic process (GO:1901160)3.34220073
70regulation of neurotransmitter levels (GO:0001505)3.32389023
71sodium ion export (GO:0071436)3.32210208
72regulation of vesicle fusion (GO:0031338)3.31030399
73neuromuscular synaptic transmission (GO:0007274)3.28801976
74long term synaptic depression (GO:0060292)3.27406460
75proline transport (GO:0015824)3.27329634
76fear response (GO:0042596)3.25688192
77potassium ion import (GO:0010107)3.25563951
78regulation of neurotransmitter transport (GO:0051588)3.22928206
79pyrimidine nucleobase catabolic process (GO:0006208)3.21231321
80regulation of dendritic spine development (GO:0060998)3.21092622
81membrane depolarization during action potential (GO:0086010)3.20711029
82learning (GO:0007612)3.20415656
83auditory behavior (GO:0031223)3.20327446
84mechanosensory behavior (GO:0007638)3.20110878
85regulation of synapse maturation (GO:0090128)3.18721337
86membrane hyperpolarization (GO:0060081)3.18303009
87positive regulation of neurotransmitter transport (GO:0051590)3.17148661
88innervation (GO:0060384)3.16736878
89regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.15484146
90neuromuscular process controlling posture (GO:0050884)3.14945617
91activation of protein kinase A activity (GO:0034199)3.14626726
92L-amino acid import (GO:0043092)3.12855082
93startle response (GO:0001964)3.12456540
94regulation of synaptic transmission (GO:0050804)3.11905332
95G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.10859231
96regulation of voltage-gated calcium channel activity (GO:1901385)3.10237044
97regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.09782827
98synaptic transmission (GO:0007268)3.09672170
99positive regulation of synaptic transmission (GO:0050806)3.08632673
100positive regulation of dendritic spine development (GO:0060999)3.07954255
101neuronal action potential (GO:0019228)3.07915399
102negative regulation of cytosolic calcium ion concentration (GO:0051481)3.07842629
103behavioral response to cocaine (GO:0048148)3.07085625
104cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.06190473
105synapse assembly (GO:0007416)3.04682564
106negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.03933306
107dendritic spine organization (GO:0097061)3.02843713
108potassium ion transmembrane transport (GO:0071805)3.00561234
109cellular potassium ion transport (GO:0071804)3.00561234
110neuromuscular process (GO:0050905)3.00114673
111nucleobase catabolic process (GO:0046113)2.99376334
112neurotransmitter uptake (GO:0001504)2.99328639
113response to auditory stimulus (GO:0010996)2.99154491
114positive regulation of synaptic transmission, GABAergic (GO:0032230)2.98010630
115adult walking behavior (GO:0007628)2.97781194
116C4-dicarboxylate transport (GO:0015740)2.94645607
117detection of calcium ion (GO:0005513)2.91685343
118neuronal ion channel clustering (GO:0045161)2.91526440
119potassium ion homeostasis (GO:0055075)2.90793175
120regulation of calcium ion-dependent exocytosis (GO:0017158)2.86839691
121cochlea development (GO:0090102)2.85644911
122potassium ion transport (GO:0006813)2.79145503
123regulation of neurotransmitter uptake (GO:0051580)2.76032463

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.29047609
2GBX2_23144817_ChIP-Seq_PC3_Human3.89538376
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.20119480
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.15950418
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.14928852
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.75398878
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.75398878
8SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.70164486
9REST_21632747_ChIP-Seq_MESCs_Mouse2.69021293
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.60957949
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.57716006
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.52440145
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.52009132
14RARB_27405468_Chip-Seq_BRAIN_Mouse2.48765698
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.45589094
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.44663686
17DROSHA_22980978_ChIP-Seq_HELA_Human2.42521341
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.37045470
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.17858782
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.17719899
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.17711060
22IKZF1_21737484_ChIP-ChIP_HCT116_Human2.14988204
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.13209248
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.98002537
25TAF15_26573619_Chip-Seq_HEK293_Human1.95616899
26CTBP2_25329375_ChIP-Seq_LNCAP_Human1.91945202
27AR_21572438_ChIP-Seq_LNCaP_Human1.86026043
28CTBP1_25329375_ChIP-Seq_LNCAP_Human1.84358985
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.82440520
30MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.80241722
31SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.79215398
32CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.77198237
33SMAD4_21799915_ChIP-Seq_A2780_Human1.76990407
34NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.71995143
35ZFP57_27257070_Chip-Seq_ESCs_Mouse1.68124135
36P300_19829295_ChIP-Seq_ESCs_Human1.54337594
37FLI1_27457419_Chip-Seq_LIVER_Mouse1.51642748
38EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.51639077
39PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.50399460
40ERG_21242973_ChIP-ChIP_JURKAT_Human1.42886469
41SMAD3_21741376_ChIP-Seq_EPCs_Human1.40694410
42SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.39259092
43PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.38408271
44ZNF274_21170338_ChIP-Seq_K562_Hela1.37589086
45TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.37359217
46AR_25329375_ChIP-Seq_VCAP_Human1.32828339
47SMAD_19615063_ChIP-ChIP_OVARY_Human1.32705825
48GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.32639371
49MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.31755606
50SOX2_21211035_ChIP-Seq_LN229_Gbm1.31499275
51CBX2_27304074_Chip-Seq_ESCs_Mouse1.31130979
52RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.31045446
53OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29308116
54NR3C1_23031785_ChIP-Seq_PC12_Mouse1.29101162
55RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.28766258
56STAT3_23295773_ChIP-Seq_U87_Human1.28509700
57PIAS1_25552417_ChIP-Seq_VCAP_Human1.27202326
58POU3F2_20337985_ChIP-ChIP_501MEL_Human1.25759141
59BMI1_23680149_ChIP-Seq_NPCS_Mouse1.25395682
60TOP2B_26459242_ChIP-Seq_MCF-7_Human1.25305402
61SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24078023
62PCGF2_27294783_Chip-Seq_ESCs_Mouse1.22539481
63RING1B_27294783_Chip-Seq_ESCs_Mouse1.22320839
64AR_19668381_ChIP-Seq_PC3_Human1.19419396
65FUS_26573619_Chip-Seq_HEK293_Human1.18321425
66TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.17759672
67TP53_16413492_ChIP-PET_HCT116_Human1.17371387
68RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.16118707
69TCF4_23295773_ChIP-Seq_U87_Human1.15510977
70ARNT_22903824_ChIP-Seq_MCF-7_Human1.11745684
71ZNF217_24962896_ChIP-Seq_MCF-7_Human1.09957641
72CDX2_19796622_ChIP-Seq_MESCs_Mouse1.09502655
73RNF2_27304074_Chip-Seq_NSC_Mouse1.09495685
74MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.08938907
75IGF1R_20145208_ChIP-Seq_DFB_Human1.08612626
76P53_22127205_ChIP-Seq_FIBROBLAST_Human1.07852734
77CBP_20019798_ChIP-Seq_JUKART_Human1.07778426
78IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.07778426
79WT1_25993318_ChIP-Seq_PODOCYTE_Human1.06790361
80AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.06090352
81PRDM14_20953172_ChIP-Seq_ESCs_Human1.05934222
82RING1B_27294783_Chip-Seq_NPCs_Mouse1.04428638
83UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.04372225
84MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03709650
85FLI1_21867929_ChIP-Seq_TH2_Mouse1.03544565
86VDR_22108803_ChIP-Seq_LS180_Human1.03268244
87RUNX2_22187159_ChIP-Seq_PCA_Human1.02881297
88YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02405107
89AHR_22903824_ChIP-Seq_MCF-7_Human1.02383030
90SMAD4_21741376_ChIP-Seq_EPCs_Human1.02285061
91PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.02136168
92SUZ12_27294783_Chip-Seq_NPCs_Mouse1.01597859
93TCF4_22108803_ChIP-Seq_LS180_Human1.00902481
94P53_22387025_ChIP-Seq_ESCs_Mouse1.00877986
95NR3C1_21868756_ChIP-Seq_MCF10A_Human1.00805093
96DNAJC2_21179169_ChIP-ChIP_NT2_Human1.00499016
97FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.99255525
98EWS_26573619_Chip-Seq_HEK293_Human0.98048665
99EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.97989124
100KLF5_20875108_ChIP-Seq_MESCs_Mouse0.97617296
101TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.97602873
102CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97526748
103NANOG_18555785_Chip-Seq_ESCs_Mouse0.96825517
104TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96156125
105POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.96156125
106SOX2_19829295_ChIP-Seq_ESCs_Human0.95711080
107NANOG_19829295_ChIP-Seq_ESCs_Human0.95711080
108ER_23166858_ChIP-Seq_MCF-7_Human0.95037720
109PCGF2_27294783_Chip-Seq_NPCs_Mouse0.94943784
110LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94873244
111TP53_18474530_ChIP-ChIP_U2OS_Human0.93611294
112SMAD3_21741376_ChIP-Seq_HESCs_Human0.93314583
113CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.92910299
114BCAT_22108803_ChIP-Seq_LS180_Human0.92815847
115SMAD3_21741376_ChIP-Seq_ESCs_Human0.91386869
116JUN_21703547_ChIP-Seq_K562_Human0.90703340
117RXR_22108803_ChIP-Seq_LS180_Human0.90390699
118TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88180595
119ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.88131352
120SMAD4_21741376_ChIP-Seq_HESCs_Human0.87544732
121TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.86804709

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.68860531
2MP0003880_abnormal_central_pattern5.37243709
3MP0003635_abnormal_synaptic_transmissio4.32181796
4MP0004270_analgesia3.73241397
5MP0009745_abnormal_behavioral_response3.64578760
6MP0009046_muscle_twitch3.47326815
7MP0002063_abnormal_learning/memory/cond3.44283785
8MP0002064_seizures3.35717509
9MP0001968_abnormal_touch/_nociception3.18110243
10MP0002572_abnormal_emotion/affect_behav2.97050256
11MP0002272_abnormal_nervous_system2.85715128
12MP0001486_abnormal_startle_reflex2.64503453
13MP0002734_abnormal_mechanical_nocicepti2.58757118
14MP0005423_abnormal_somatic_nervous2.56583880
15MP0002736_abnormal_nociception_after2.52997913
16MP0001501_abnormal_sleep_pattern2.52610990
17MP0002822_catalepsy2.40054532
18MP0001440_abnormal_grooming_behavior2.34799426
19MP0002735_abnormal_chemical_nociception2.33547493
20MP0002067_abnormal_sensory_capabilities2.16785547
21MP0008569_lethality_at_weaning2.12912342
22MP0001970_abnormal_pain_threshold1.90433636
23MP0002733_abnormal_thermal_nociception1.89584479
24MP0002184_abnormal_innervation1.82745747
25MP0003329_amyloid_beta_deposits1.80699635
26MP0009780_abnormal_chondrocyte_physiolo1.80227560
27MP0004924_abnormal_behavior1.75816632
28MP0005386_behavior/neurological_phenoty1.75816632
29MP0002557_abnormal_social/conspecific_i1.75400078
30MP0000778_abnormal_nervous_system1.71563390
31MP0003879_abnormal_hair_cell1.67875129
32MP0008877_abnormal_DNA_methylation1.59068579
33MP0004811_abnormal_neuron_physiology1.58770867
34MP0005646_abnormal_pituitary_gland1.56850831
35MP0006276_abnormal_autonomic_nervous1.46882202
36MP0001984_abnormal_olfaction1.46782686
37MP0000955_abnormal_spinal_cord1.46690305
38MP0002066_abnormal_motor_capabilities/c1.45913115
39MP0003787_abnormal_imprinting1.45866782
40MP0002909_abnormal_adrenal_gland1.45766842
41MP0004858_abnormal_nervous_system1.44429340
42MP0003136_yellow_coat_color1.41417614
43MP0004147_increased_porphyrin_level1.40533075
44MP0003633_abnormal_nervous_system1.39802012
45MP0004885_abnormal_endolymph1.39517460
46MP0002882_abnormal_neuron_morphology1.37734305
47MP0004145_abnormal_muscle_electrophysio1.37237693
48MP0004142_abnormal_muscle_tone1.35173855
49MP0001188_hyperpigmentation1.33128391
50MP0001529_abnormal_vocalization1.32300387
51MP0001502_abnormal_circadian_rhythm1.25893761
52MP0001905_abnormal_dopamine_level1.25493245
53MP0002653_abnormal_ependyma_morphology1.21827277
54MP0003631_nervous_system_phenotype1.21357304
55MP0005645_abnormal_hypothalamus_physiol1.17641558
56MP0004742_abnormal_vestibular_system1.13681175
57MP0001986_abnormal_taste_sensitivity1.13184925
58MP0006072_abnormal_retinal_apoptosis1.12049330
59MP0008872_abnormal_physiological_respon1.08235169
60MP0002152_abnormal_brain_morphology1.08060426
61MP0003121_genomic_imprinting1.04606509
62MP0002229_neurodegeneration0.99067936
63MP0005253_abnormal_eye_physiology0.98525049
64MP0005551_abnormal_eye_electrophysiolog0.97720127
65MP0000920_abnormal_myelination0.95224838
66MP0003283_abnormal_digestive_organ0.95020693
67MP0002102_abnormal_ear_morphology0.94292945
68MP0008874_decreased_physiological_sensi0.93626255
69MP0010386_abnormal_urinary_bladder0.92740928
70MP0001963_abnormal_hearing_physiology0.92265705
71MP0003122_maternal_imprinting0.91576630
72MP0003632_abnormal_nervous_system0.91276956
73MP0002069_abnormal_eating/drinking_beha0.90965285
74MP0003690_abnormal_glial_cell0.89966038
75MP0000751_myopathy0.89413459
76MP0003195_calcinosis0.88778547
77MP0003890_abnormal_embryonic-extraembry0.86977506
78MP0001177_atelectasis0.85280339
79MP0004484_altered_response_of0.83071698
80MP0004085_abnormal_heartbeat0.81690546
81MP0005409_darkened_coat_color0.81527855
82MP0005535_abnormal_body_temperature0.80761726
83MP0004215_abnormal_myocardial_fiber0.80036347
84MP0001485_abnormal_pinna_reflex0.79587502
85MP0004133_heterotaxia0.77954006
86MP0002837_dystrophic_cardiac_calcinosis0.77580425
87MP0006292_abnormal_olfactory_placode0.77415296
88MP0000604_amyloidosis0.76680516
89MP0003123_paternal_imprinting0.76068566
90MP0003075_altered_response_to0.75260210
91MP0003634_abnormal_glial_cell0.75046785
92MP0000013_abnormal_adipose_tissue0.73101283
93MP0005174_abnormal_tail_pigmentation0.72566558
94MP0002752_abnormal_somatic_nervous0.72386926
95MP0003045_fibrosis0.72065207
96MP0002234_abnormal_pharynx_morphology0.71214549
97MP0000569_abnormal_digit_pigmentation0.70431267
98MP0004510_myositis0.70369418
99MP0002876_abnormal_thyroid_physiology0.68647934
100MP0000631_abnormal_neuroendocrine_gland0.68106593
101MP0005394_taste/olfaction_phenotype0.67238789
102MP0005499_abnormal_olfactory_system0.67238789
103MP0003646_muscle_fatigue0.66481602
104MP0005171_absent_coat_pigmentation0.64863359
105MP0001664_abnormal_digestion0.63176785
106MP0004043_abnormal_pH_regulation0.63034529
107MP0002928_abnormal_bile_duct0.61633363
108MP0002090_abnormal_vision0.60450387
109MP0003137_abnormal_impulse_conducting0.60086077
110MP0002160_abnormal_reproductive_system0.59105224
111MP0000427_abnormal_hair_cycle0.57365784
112MP0005187_abnormal_penis_morphology0.57136247
113MP0002751_abnormal_autonomic_nervous0.56900598
114MP0001943_abnormal_respiration0.54867006
115MP0000026_abnormal_inner_ear0.53458848
116MP0010769_abnormal_survival0.53159561
117MP0002638_abnormal_pupillary_reflex0.51796327
118MP0002082_postnatal_lethality0.51144010
119MP0010770_preweaning_lethality0.51144010
120MP0005167_abnormal_blood-brain_barrier0.51016740
121MP0004233_abnormal_muscle_weight0.50551437
122MP0010768_mortality/aging0.50177854
123MP0005623_abnormal_meninges_morphology0.49781032
124MP0003956_abnormal_body_size0.49190675

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.97158378
2Myokymia (HP:0002411)6.63682425
3Focal seizures (HP:0007359)6.24994436
4Epileptic encephalopathy (HP:0200134)5.60911463
5Atonic seizures (HP:0010819)5.40120322
6Visual hallucinations (HP:0002367)5.28929252
7Febrile seizures (HP:0002373)5.01960047
8Progressive cerebellar ataxia (HP:0002073)4.88833999
9Absence seizures (HP:0002121)4.72447290
10Hyperventilation (HP:0002883)4.37202911
11Dialeptic seizures (HP:0011146)4.35871175
12Broad-based gait (HP:0002136)4.31723354
13Action tremor (HP:0002345)4.30649207
14Gaze-evoked nystagmus (HP:0000640)4.21393196
15Generalized tonic-clonic seizures (HP:0002069)4.12025752
16Poor eye contact (HP:0000817)3.67798435
17Limb dystonia (HP:0002451)3.67344676
18Dysdiadochokinesis (HP:0002075)3.65946050
19Dysmetria (HP:0001310)3.51853387
20Truncal ataxia (HP:0002078)3.38296549
21Scanning speech (HP:0002168)3.33659476
22Supranuclear gaze palsy (HP:0000605)3.26548576
23Impaired vibration sensation in the lower limbs (HP:0002166)3.26341596
24Impaired social interactions (HP:0000735)3.25829873
25Abnormal social behavior (HP:0012433)3.25829873
26Impaired smooth pursuit (HP:0007772)3.20690561
27Amblyopia (HP:0000646)3.18895025
28Anxiety (HP:0000739)3.04310803
29Depression (HP:0000716)3.02622250
30Drooling (HP:0002307)2.94012378
31Excessive salivation (HP:0003781)2.94012378
32Hemiparesis (HP:0001269)2.92242623
33Dysmetric saccades (HP:0000641)2.85682263
34Urinary bladder sphincter dysfunction (HP:0002839)2.83491011
35Abnormal eating behavior (HP:0100738)2.80809173
36Genetic anticipation (HP:0003743)2.79316267
37Abnormality of binocular vision (HP:0011514)2.79172728
38Diplopia (HP:0000651)2.79172728
39Absent speech (HP:0001344)2.78857628
40Abnormality of ocular smooth pursuit (HP:0000617)2.76553795
41Ankle clonus (HP:0011448)2.76117886
42Postural instability (HP:0002172)2.74561188
43Pancreatic cysts (HP:0001737)2.72358729
44Intention tremor (HP:0002080)2.69635944
45Epileptiform EEG discharges (HP:0011182)2.67417411
46Abnormality of the lower motor neuron (HP:0002366)2.66093973
47Stereotypic behavior (HP:0000733)2.62128391
48Cerebral inclusion bodies (HP:0100314)2.58630149
49Status epilepticus (HP:0002133)2.57863524
50Neurofibrillary tangles (HP:0002185)2.57487711
51Hemiplegia (HP:0002301)2.56788472
52Progressive inability to walk (HP:0002505)2.52564076
53Spastic gait (HP:0002064)2.45436597
54Nephronophthisis (HP:0000090)2.44749342
55Mutism (HP:0002300)2.44040956
56Fetal akinesia sequence (HP:0001989)2.43786862
57Type II lissencephaly (HP:0007260)2.42740136
58EEG with generalized epileptiform discharges (HP:0011198)2.42688419
59Urinary urgency (HP:0000012)2.40562350
60Gait imbalance (HP:0002141)2.38578096
61Pancreatic fibrosis (HP:0100732)2.38347735
62Congenital stationary night blindness (HP:0007642)2.38025438
63Inability to walk (HP:0002540)2.33821835
64Bradykinesia (HP:0002067)2.31120597
65Impaired vibratory sensation (HP:0002495)2.28813852
66Abnormality of the corticospinal tract (HP:0002492)2.28298627
67True hermaphroditism (HP:0010459)2.26774377
68Papilledema (HP:0001085)2.24261796
69Protruding tongue (HP:0010808)2.23850607
70Hypsarrhythmia (HP:0002521)2.23434544
71Generalized myoclonic seizures (HP:0002123)2.23186838
72Medial flaring of the eyebrow (HP:0010747)2.21321418
73Blue irides (HP:0000635)2.21293828
74Abnormality of midbrain morphology (HP:0002418)2.21209084
75Molar tooth sign on MRI (HP:0002419)2.21209084
76Termporal pattern (HP:0011008)2.18400532
77Insidious onset (HP:0003587)2.18400532
78Gait ataxia (HP:0002066)2.16722557
79Morphological abnormality of the pyramidal tract (HP:0002062)2.16533589
80Torticollis (HP:0000473)2.13997883
81Focal dystonia (HP:0004373)2.12596569
82Annular pancreas (HP:0001734)2.09857738
83Abnormality of the renal medulla (HP:0100957)2.08242097
84Akinesia (HP:0002304)2.05084827
85Incomplete penetrance (HP:0003829)2.03883466
86Ventricular fibrillation (HP:0001663)2.02872806
87Abnormality of salivation (HP:0100755)2.02317799
88Prolonged QT interval (HP:0001657)2.00083087
89Polydipsia (HP:0001959)1.99499595
90Abnormal drinking behavior (HP:0030082)1.99499595
91Abnormality of saccadic eye movements (HP:0000570)1.97944578
92Megalencephaly (HP:0001355)1.95320502
93Psychosis (HP:0000709)1.95021795
94Lower limb muscle weakness (HP:0007340)1.94209451
95Lissencephaly (HP:0001339)1.93720875
96Spastic tetraplegia (HP:0002510)1.91023066
97Cystic liver disease (HP:0006706)1.90617987
98Pheochromocytoma (HP:0002666)1.89468180
99Cerebral hypomyelination (HP:0006808)1.87685531
100Sleep apnea (HP:0010535)1.86659382
101Delusions (HP:0000746)1.85169920
102Lower limb asymmetry (HP:0100559)1.85140139
103Abnormality of the renal cortex (HP:0011035)1.83217964
104Ulnar claw (HP:0001178)1.80687777
105Polyphagia (HP:0002591)1.79871658
106Spastic tetraparesis (HP:0001285)1.79285205
107Neuronal loss in central nervous system (HP:0002529)1.78865892
108Inappropriate behavior (HP:0000719)1.78245101
109Amyotrophic lateral sclerosis (HP:0007354)1.78101900
110Neuroendocrine neoplasm (HP:0100634)1.77714538
111Congenital primary aphakia (HP:0007707)1.77322014
112Craniofacial dystonia (HP:0012179)1.76185043
113Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.75650597
114Degeneration of the lateral corticospinal tracts (HP:0002314)1.75650597
115Thickened helices (HP:0000391)1.75469081
116CNS hypomyelination (HP:0003429)1.75278037
117Limb ataxia (HP:0002070)1.74341496
118Optic nerve hypoplasia (HP:0000609)1.73064553
119Agitation (HP:0000713)1.72924866
120Generalized hypopigmentation of hair (HP:0011358)1.72913245
121Increased circulating renin level (HP:0000848)1.72746628
122Obstructive sleep apnea (HP:0002870)1.72645264
123Syncope (HP:0001279)1.72415331
124Hypomagnesemia (HP:0002917)1.72219093
125Pachygyria (HP:0001302)1.72175715
126Abnormal EKG (HP:0003115)1.72087027
127Horizontal nystagmus (HP:0000666)1.71758985
128Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.71102024
129Hypothermia (HP:0002045)1.71039168
130Retinal dysplasia (HP:0007973)1.71027701
131Cerebellar dysplasia (HP:0007033)1.70446603
132Widely spaced teeth (HP:0000687)1.70385956
133Pointed chin (HP:0000307)1.70123754
134Clumsiness (HP:0002312)1.70104462
135Postural tremor (HP:0002174)1.68413092
136Specific learning disability (HP:0001328)1.64966374

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.83121784
2NTRK34.78473485
3FRK3.22131172
4MAP3K93.14362173
5MAP3K42.99692464
6RIPK42.89788302
7CASK2.85780773
8DAPK22.67896193
9MAP2K72.67232899
10MINK12.42845778
11MARK12.17864713
12MAP3K122.14966706
13PAK62.03295968
14MAP2K41.98692667
15CDK191.94010830
16NTRK21.86195997
17DAPK11.85090436
18PNCK1.82530870
19CAMKK11.78649364
20KSR21.77436049
21BMPR1B1.67575826
22PLK21.66553238
23TNIK1.66469853
24CAMKK21.60453477
25STK38L1.60279463
26NTRK11.59716240
27ADRBK21.58027355
28PRPF4B1.55156988
29WNK31.52222935
30KSR11.49792255
31CDK51.48153621
32PRKD31.45470139
33GRK51.37231722
34BMPR21.35348732
35PRKCG1.32687331
36STK381.28748100
37SIK21.25150414
38WNK41.24793652
39OXSR11.23853716
40LATS11.23544434
41FES1.21843707
42ACVR1B1.21807941
43MAPK131.21177202
44ARAF1.18627574
45CAMK2A1.15872004
46MAP3K131.13604826
47CAMK2B1.12777555
48PTK2B1.01970392
49CAMK10.99644314
50SGK2230.96716668
51SGK4940.96716668
52FGFR20.96274460
53GRK10.95714850
54TYRO30.95452187
55MAP3K20.93793144
56DYRK20.93664337
57UHMK10.92919684
58MAP4K20.88640040
59ZAK0.88114558
60SGK20.87586780
61CDK180.87475401
62CCNB10.87289175
63CDK150.85048262
64STK110.84623366
65RAF10.83525261
66TAOK30.81866299
67CDK140.80742494
68INSRR0.79953107
69SGK10.77834811
70PINK10.74620255
71CDK11A0.73683515
72TLK10.70690576
73AKT30.70310090
74DYRK1A0.69109061
75NME10.68287700
76PDK10.68166026
77PKN10.68157317
78PRKCH0.65721045
79SGK30.65356494
80MKNK20.65123337
81WNK10.65041570
82TNK20.64520928
83CAMK2D0.63538525
84ADRBK10.63126467
85RET0.61866835
86PDPK10.61136281
87FGR0.61018068
88TAOK10.60702454
89TRIM280.59800530
90CAMK2G0.59304562
91NEK60.59167020
92CSNK1A1L0.58231682
93PAK30.55639274
94PRKCE0.54844308
95PHKG20.54617665
96PHKG10.54617665
97CSNK1G30.53315575
98MARK20.52197147
99PIK3CA0.51544240
100CSNK1G20.51368348
101MAP2K60.50833936
102CAMK40.48385644
103PRKACA0.48000221
104CAMK1G0.47592953
105CSNK1D0.47194790
106MAP3K10.47180406
107RPS6KA30.46893291
108CSNK1G10.45697805
109MUSK0.44789414
110LATS20.43977334
111FYN0.43543012
112ROCK20.42898496
113MAPKAPK50.42748395
114MAPK100.41781471
115SIK30.41385798
116PRKG10.41176433
117FER0.40844095
118ALK0.40615159
119PRKCZ0.40040503
120PRKCA0.39318721
121MAP3K70.39311617
122DAPK30.38906788
123MAP3K60.37540167
124MAPK120.37464537
125BCR0.37097584
126DMPK0.37003175
127CSNK1A10.36729471
128STK390.36599564
129MAP2K10.34971769
130GRK70.34900588
131ERBB20.33498733
132NLK0.32365870

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.26175492
2Synaptic vesicle cycle_Homo sapiens_hsa047213.09902748
3Long-term potentiation_Homo sapiens_hsa047203.05115580
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.94614177
5Glutamatergic synapse_Homo sapiens_hsa047242.85935900
6Circadian entrainment_Homo sapiens_hsa047132.84852326
7GABAergic synapse_Homo sapiens_hsa047272.72707279
8Amphetamine addiction_Homo sapiens_hsa050312.68383217
9Morphine addiction_Homo sapiens_hsa050322.61677709
10Olfactory transduction_Homo sapiens_hsa047402.57543537
11Salivary secretion_Homo sapiens_hsa049702.39759796
12Dopaminergic synapse_Homo sapiens_hsa047282.16834109
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.10154848
14Taste transduction_Homo sapiens_hsa047422.03420494
15Long-term depression_Homo sapiens_hsa047301.99881702
16Insulin secretion_Homo sapiens_hsa049111.97948764
17Gastric acid secretion_Homo sapiens_hsa049711.97366180
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.87682105
19Cholinergic synapse_Homo sapiens_hsa047251.84589800
20Renin secretion_Homo sapiens_hsa049241.80637253
21Calcium signaling pathway_Homo sapiens_hsa040201.75723769
22Serotonergic synapse_Homo sapiens_hsa047261.74456084
23Oxytocin signaling pathway_Homo sapiens_hsa049211.72403867
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.60662668
25Collecting duct acid secretion_Homo sapiens_hsa049661.53876362
26Cocaine addiction_Homo sapiens_hsa050301.48246334
27GnRH signaling pathway_Homo sapiens_hsa049121.44532918
28Butanoate metabolism_Homo sapiens_hsa006501.41699620
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.37329194
30cAMP signaling pathway_Homo sapiens_hsa040241.33288315
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.32034789
32Gap junction_Homo sapiens_hsa045401.30275423
33Phosphatidylinositol signaling system_Homo sapiens_hsa040701.27392628
34Maturity onset diabetes of the young_Homo sapiens_hsa049501.18436277
35Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.17788740
36Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.13575814
37Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.12474496
38Estrogen signaling pathway_Homo sapiens_hsa049151.12008701
39Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.10044934
40Type II diabetes mellitus_Homo sapiens_hsa049301.08688275
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.08281983
42Axon guidance_Homo sapiens_hsa043601.04113265
43Glioma_Homo sapiens_hsa052141.03943416
44Cardiac muscle contraction_Homo sapiens_hsa042601.02703128
45Pancreatic secretion_Homo sapiens_hsa049721.02552096
46Melanogenesis_Homo sapiens_hsa049161.00554680
47Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.00471344
48Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.00205727
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.98237043
50ErbB signaling pathway_Homo sapiens_hsa040120.96431867
51Vitamin B6 metabolism_Homo sapiens_hsa007500.96205835
52Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.92734882
53Vibrio cholerae infection_Homo sapiens_hsa051100.87929183
54Phototransduction_Homo sapiens_hsa047440.86711745
55Oocyte meiosis_Homo sapiens_hsa041140.83967391
56Thyroid hormone synthesis_Homo sapiens_hsa049180.81097738
57Phospholipase D signaling pathway_Homo sapiens_hsa040720.80659517
58Linoleic acid metabolism_Homo sapiens_hsa005910.80018262
59Dorso-ventral axis formation_Homo sapiens_hsa043200.79222636
60Ether lipid metabolism_Homo sapiens_hsa005650.78559052
61Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.73971278
62Choline metabolism in cancer_Homo sapiens_hsa052310.73687361
63alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.72543533
64MAPK signaling pathway_Homo sapiens_hsa040100.69598947
65Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.69253883
66Dilated cardiomyopathy_Homo sapiens_hsa054140.67869765
67Nitrogen metabolism_Homo sapiens_hsa009100.65764691
68Parkinsons disease_Homo sapiens_hsa050120.64011747
69Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.63186583
70Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.62250636
71VEGF signaling pathway_Homo sapiens_hsa043700.59847866
72African trypanosomiasis_Homo sapiens_hsa051430.59418451
73Alzheimers disease_Homo sapiens_hsa050100.59112762
74Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.58449289
75Inositol phosphate metabolism_Homo sapiens_hsa005620.58241677
76ABC transporters_Homo sapiens_hsa020100.57249074
77Carbohydrate digestion and absorption_Homo sapiens_hsa049730.55184053
78Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.54570368
79Ras signaling pathway_Homo sapiens_hsa040140.54458827
80Glucagon signaling pathway_Homo sapiens_hsa049220.53497562
81Tryptophan metabolism_Homo sapiens_hsa003800.51348579
82Rap1 signaling pathway_Homo sapiens_hsa040150.50944406
83Circadian rhythm_Homo sapiens_hsa047100.50863273
84Sphingolipid signaling pathway_Homo sapiens_hsa040710.49556522
85Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.49488968
86Mineral absorption_Homo sapiens_hsa049780.48443697
87Neurotrophin signaling pathway_Homo sapiens_hsa047220.47551270
88Regulation of autophagy_Homo sapiens_hsa041400.47528103
89beta-Alanine metabolism_Homo sapiens_hsa004100.45964750
90Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.44408516
91Histidine metabolism_Homo sapiens_hsa003400.42329876
92Type I diabetes mellitus_Homo sapiens_hsa049400.41853227
93Wnt signaling pathway_Homo sapiens_hsa043100.41362837
94Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.41301200
95Alcoholism_Homo sapiens_hsa050340.41167712
96Bile secretion_Homo sapiens_hsa049760.41052959
97Thyroid hormone signaling pathway_Homo sapiens_hsa049190.39669709
98Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.37218618
99mTOR signaling pathway_Homo sapiens_hsa041500.36078417
100Fatty acid biosynthesis_Homo sapiens_hsa000610.35909910
101Endocytosis_Homo sapiens_hsa041440.33691158
102Oxidative phosphorylation_Homo sapiens_hsa001900.31882541
103Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.31209122
104Longevity regulating pathway - mammal_Homo sapiens_hsa042110.31063201
105Ovarian steroidogenesis_Homo sapiens_hsa049130.31008823
106Non-small cell lung cancer_Homo sapiens_hsa052230.30967229
107Renal cell carcinoma_Homo sapiens_hsa052110.30006118
108SNARE interactions in vesicular transport_Homo sapiens_hsa041300.29859077
109Prion diseases_Homo sapiens_hsa050200.29381208
110Chemokine signaling pathway_Homo sapiens_hsa040620.29009349
111Propanoate metabolism_Homo sapiens_hsa006400.27955890
112Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.27779962
113Huntingtons disease_Homo sapiens_hsa050160.27655893
114Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.27180515
115Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.25605407
116Protein export_Homo sapiens_hsa030600.24726133
117Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.24148410
118Peroxisome_Homo sapiens_hsa041460.23996690
119Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.23634378
120Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.23539442
121Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.23083321
122Glycerophospholipid metabolism_Homo sapiens_hsa005640.22979485
123Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.22958799
124Sphingolipid metabolism_Homo sapiens_hsa006000.21587657

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