INA

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: Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pyrimidine nucleobase catabolic process (GO:0006208)6.74429860
2neuron cell-cell adhesion (GO:0007158)5.60046203
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.58612189
4vocalization behavior (GO:0071625)5.54206195
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.39042955
6nucleobase catabolic process (GO:0046113)5.38984014
7layer formation in cerebral cortex (GO:0021819)5.36569229
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.21936354
9neuron recognition (GO:0008038)5.03536099
10synaptic vesicle maturation (GO:0016188)5.02368194
11cell migration in hindbrain (GO:0021535)5.00359184
12synaptic vesicle exocytosis (GO:0016079)4.94622919
13protein localization to synapse (GO:0035418)4.86444450
14locomotory exploration behavior (GO:0035641)4.77840619
15dendritic spine morphogenesis (GO:0060997)4.71729589
16axonal fasciculation (GO:0007413)4.70672149
17positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.67486863
18regulation of glutamate receptor signaling pathway (GO:1900449)4.64697035
19negative regulation of microtubule polymerization (GO:0031115)4.64255875
20regulation of synaptic vesicle exocytosis (GO:2000300)4.55299092
21glutamate secretion (GO:0014047)4.41660097
22exploration behavior (GO:0035640)4.31610366
23response to pheromone (GO:0019236)4.31111090
24central nervous system projection neuron axonogenesis (GO:0021952)4.30269480
25ionotropic glutamate receptor signaling pathway (GO:0035235)4.30120396
26dendrite morphogenesis (GO:0048813)4.24406021
27neurotransmitter secretion (GO:0007269)4.21446115
28regulation of synapse structural plasticity (GO:0051823)4.20752273
29regulation of synaptic vesicle transport (GO:1902803)4.10194457
30synaptic vesicle docking involved in exocytosis (GO:0016081)3.99479964
31cerebellar Purkinje cell differentiation (GO:0021702)3.99061638
32regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.87395021
33regulation of neuronal synaptic plasticity (GO:0048168)3.81790451
34postsynaptic membrane organization (GO:0001941)3.80391933
35auditory behavior (GO:0031223)3.79177215
36glutamate receptor signaling pathway (GO:0007215)3.78336641
37synaptic transmission, glutamatergic (GO:0035249)3.75678225
38transmission of nerve impulse (GO:0019226)3.74754565
39positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.72581136
40negative regulation of synaptic transmission, GABAergic (GO:0032229)3.72359150
41adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.69442094
42regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.68437233
43negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.66096326
44positive regulation of synapse maturation (GO:0090129)3.65886851
45regulation of long-term neuronal synaptic plasticity (GO:0048169)3.64444334
46cerebellar Purkinje cell layer development (GO:0021680)3.58809812
47neuron-neuron synaptic transmission (GO:0007270)3.52008480
48positive regulation of synapse assembly (GO:0051965)3.46393257
49proline transport (GO:0015824)3.43856918
50gamma-aminobutyric acid transport (GO:0015812)3.41109064
51regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.39111763
52neuronal action potential propagation (GO:0019227)3.37858085
53neurotransmitter-gated ion channel clustering (GO:0072578)3.37842202
54neurotransmitter transport (GO:0006836)3.34387711
55glycosphingolipid biosynthetic process (GO:0006688)3.34105331
56regulation of respiratory system process (GO:0044065)3.33949644
57substrate-independent telencephalic tangential interneuron migration (GO:0021843)3.33273420
58substrate-independent telencephalic tangential migration (GO:0021826)3.33273420
59axon extension (GO:0048675)3.33157369
60synaptic vesicle endocytosis (GO:0048488)3.32572022
61central nervous system neuron axonogenesis (GO:0021955)3.31083607
62synapse assembly (GO:0007416)3.30771414
63response to auditory stimulus (GO:0010996)3.23862190
64positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.22690516
65membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.21341434
66dendrite development (GO:0016358)3.19535276
67retinal ganglion cell axon guidance (GO:0031290)3.19329308
68hippocampus development (GO:0021766)3.18094117
69positive regulation of membrane potential (GO:0045838)3.17430068
70cerebellum development (GO:0021549)3.16692036
71long-term memory (GO:0007616)3.15958162
72regulation of dendritic spine morphogenesis (GO:0061001)3.14513541
73mitochondrion transport along microtubule (GO:0047497)3.13440331
74establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.13440331
75regulation of postsynaptic membrane potential (GO:0060078)3.13045663
76activation of protein kinase A activity (GO:0034199)3.12939219
77regulation of excitatory postsynaptic membrane potential (GO:0060079)3.12781922
78prepulse inhibition (GO:0060134)3.12297231
79regulation of respiratory gaseous exchange (GO:0043576)3.12272049
80neuronal ion channel clustering (GO:0045161)3.12263432
81establishment of mitochondrion localization (GO:0051654)3.11212167
82regulation of neurotransmitter levels (GO:0001505)3.10601585
83regulation of synapse assembly (GO:0051963)3.08256842
84social behavior (GO:0035176)3.07409149
85intraspecies interaction between organisms (GO:0051703)3.07409149
86adult walking behavior (GO:0007628)3.07264956
87neuromuscular process controlling balance (GO:0050885)3.06374370
88synapse organization (GO:0050808)3.05346065
89positive regulation of dendritic spine development (GO:0060999)3.05219201
90cell communication by electrical coupling (GO:0010644)3.03304420
91cell differentiation in hindbrain (GO:0021533)3.03134539
92establishment of nucleus localization (GO:0040023)3.02197246
93mechanosensory behavior (GO:0007638)3.01598114
94dendritic spine organization (GO:0097061)3.00906768
95neuromuscular synaptic transmission (GO:0007274)3.00659831
96regulation of vesicle fusion (GO:0031338)3.00262961
97regulation of synapse organization (GO:0050807)3.00147599
98presynaptic membrane assembly (GO:0097105)3.00062235
99membrane hyperpolarization (GO:0060081)2.99866218
100positive regulation of dendritic spine morphogenesis (GO:0061003)2.99652099
101calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.98371533
102regulation of neurotransmitter secretion (GO:0046928)2.98017495
103neuron projection extension (GO:1990138)2.97433167
104regulation of cAMP-dependent protein kinase activity (GO:2000479)2.97177757
105innervation (GO:0060384)2.96738630
106mating behavior (GO:0007617)2.96610399
107regulation of synaptic transmission, glutamatergic (GO:0051966)2.96454831
108positive regulation of synaptic transmission, GABAergic (GO:0032230)2.95936640
109presynaptic membrane organization (GO:0097090)2.94350352
110organelle transport along microtubule (GO:0072384)2.92402518
111behavioral response to nicotine (GO:0035095)2.92229781
112* neurofilament cytoskeleton organization (GO:0060052)2.90969273
113startle response (GO:0001964)2.89888997
114synaptic transmission, cholinergic (GO:0007271)2.83612071
115membrane depolarization during action potential (GO:0086010)2.77871112
116short-term memory (GO:0007614)2.75995994
117axon cargo transport (GO:0008088)2.74982427
118sequestering of actin monomers (GO:0042989)2.72326795
119positive regulation of mitochondrial fission (GO:0090141)2.72191375
120response to dietary excess (GO:0002021)2.71689972
121membrane depolarization (GO:0051899)2.71426444
122ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162.70872896
123cytoskeleton-dependent intracellular transport (GO:0030705)2.69065290

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human7.91753925
2NR4A2_19515692_ChIP-ChIP_MN9D_Mouse3.32582881
3GBX2_23144817_ChIP-Seq_PC3_Human3.21535352
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.07958710
5SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.98891834
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.85869169
7EZH2_27304074_Chip-Seq_ESCs_Mouse2.85087184
8SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.76094215
9CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.75825888
10* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.67630659
11* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.67630659
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.64481946
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.48142289
14* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.41558035
15* EZH2_27294783_Chip-Seq_ESCs_Mouse2.40996508
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.37187564
17* REST_18959480_ChIP-ChIP_MESCs_Mouse2.36993078
18* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.36654565
19* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.36427703
20* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.26741647
21EED_16625203_ChIP-ChIP_MESCs_Mouse2.25010623
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.24605497
23* RARB_27405468_Chip-Seq_BRAIN_Mouse2.13913478
24GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.10059629
25DROSHA_22980978_ChIP-Seq_HELA_Human2.08523004
26* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.08120305
27IKZF1_21737484_ChIP-ChIP_HCT116_Human1.95578714
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.92116246
29TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.91759514
30TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.91455503
31IGF1R_20145208_ChIP-Seq_DFB_Human1.87695534
32HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.87189875
33CTBP2_25329375_ChIP-Seq_LNCAP_Human1.86746574
34MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.78951779
35CBX2_27304074_Chip-Seq_ESCs_Mouse1.77039278
36ZNF274_21170338_ChIP-Seq_K562_Hela1.74207299
37TAF15_26573619_Chip-Seq_HEK293_Human1.71280122
38BMI1_23680149_ChIP-Seq_NPCS_Mouse1.71121454
39* RNF2_27304074_Chip-Seq_NSC_Mouse1.63487543
40AR_21572438_ChIP-Seq_LNCaP_Human1.60998339
41CTBP1_25329375_ChIP-Seq_LNCAP_Human1.56905651
42* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.56076324
43* RING1B_27294783_Chip-Seq_ESCs_Mouse1.54685160
44ZFP281_18757296_ChIP-ChIP_E14_Mouse1.54433222
45ERG_21242973_ChIP-ChIP_JURKAT_Human1.51522688
46PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.46287888
47* RING1B_27294783_Chip-Seq_NPCs_Mouse1.40241858
48* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.39931701
49ZFP57_27257070_Chip-Seq_ESCs_Mouse1.39485795
50* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.38712317
51SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.36292214
52FUS_26573619_Chip-Seq_HEK293_Human1.35855422
53GATA1_26923725_Chip-Seq_HPCs_Mouse1.32504682
54SMAD4_21799915_ChIP-Seq_A2780_Human1.27909552
55RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.24474507
56SOX2_21211035_ChIP-Seq_LN229_Gbm1.23435876
57WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.21274936
58* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.17474555
59* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.17177766
60SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.16925037
61TOP2B_26459242_ChIP-Seq_MCF-7_Human1.16034704
62P300_19829295_ChIP-Seq_ESCs_Human1.15677496
63KDM2B_26808549_Chip-Seq_K562_Human1.15090527
64* FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.13208587
65SMAD3_21741376_ChIP-Seq_EPCs_Human1.12672591
66* AR_19668381_ChIP-Seq_PC3_Human1.11498046
67VDR_22108803_ChIP-Seq_LS180_Human1.11477839
68NR3C1_23031785_ChIP-Seq_PC12_Mouse1.09837260
69AR_25329375_ChIP-Seq_VCAP_Human1.09010506
70* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.08092189
71P53_22127205_ChIP-Seq_FIBROBLAST_Human1.07379407
72OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.06985343
73CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06501080
74TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05837314
75POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.05837314
76CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.04198122
77KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.02851198
78YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02791970
79MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.02610917
80EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.01871703
81TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.99319708
82ZFP281_27345836_Chip-Seq_ESCs_Mouse0.99161270
83SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.99010370
84ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.98092516
85CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.96306529
86WT1_25993318_ChIP-Seq_PODOCYTE_Human0.96218765
87CBP_20019798_ChIP-Seq_JUKART_Human0.96081914
88IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.96081914
89STAT3_23295773_ChIP-Seq_U87_Human0.95625429
90BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.95445715
91* TP53_20018659_ChIP-ChIP_R1E_Mouse0.95069995
92SMAD3_21741376_ChIP-Seq_ESCs_Human0.93831807
93UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.93494674
94* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.92946722
95MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.92032895
96RBPJ_22232070_ChIP-Seq_NCS_Mouse0.90613051
97RUNX2_22187159_ChIP-Seq_PCA_Human0.90272523
98TAL1_26923725_Chip-Seq_HPCs_Mouse0.90220763
99REST_19997604_ChIP-ChIP_NEURONS_Mouse0.89805433
100* SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.88977821
101ARNT_22903824_ChIP-Seq_MCF-7_Human0.88959068
102CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.88580893
103MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.88285233
104LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88133909
105POU3F2_20337985_ChIP-ChIP_501MEL_Human0.88122588
106TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88117586
107EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.86916017
108* SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.86813046
109AHR_22903824_ChIP-Seq_MCF-7_Human0.86557668
110CTCF_27219007_Chip-Seq_Bcells_Human0.86475191
111SMAD4_21741376_ChIP-Seq_HESCs_Human0.86082853
112NR3C1_21868756_ChIP-Seq_MCF10A_Human0.86028913
113PIAS1_25552417_ChIP-Seq_VCAP_Human0.85060067
114TCF4_23295773_ChIP-Seq_U87_Human0.84724938
115* KLF5_20875108_ChIP-Seq_MESCs_Mouse0.84202484
116AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.83826723
117JUN_21703547_ChIP-Seq_K562_Human0.83673188
118POU5F1_16153702_ChIP-ChIP_HESCs_Human0.83601043
119EWS_26573619_Chip-Seq_HEK293_Human0.83085775
120ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.81701979
121* TET1_21490601_ChIP-Seq_MESCs_Mouse0.81403166
122ELK4_26923725_Chip-Seq_MESODERM_Mouse0.79382969

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.37356055
2MP0003880_abnormal_central_pattern4.93752130
3MP0003635_abnormal_synaptic_transmissio3.70128011
4MP0005423_abnormal_somatic_nervous3.59307611
5MP0004270_analgesia3.57349604
6MP0002063_abnormal_learning/memory/cond3.14115927
7MP0006276_abnormal_autonomic_nervous3.10768695
8MP0000778_abnormal_nervous_system2.87682952
9MP0009745_abnormal_behavioral_response2.81410836
10MP0002734_abnormal_mechanical_nocicepti2.65136137
11MP0002064_seizures2.56439401
12MP0002572_abnormal_emotion/affect_behav2.53710527
13MP0009046_muscle_twitch2.48776579
14MP0001968_abnormal_touch/_nociception2.42861765
15MP0002184_abnormal_innervation2.38329293
16MP0001440_abnormal_grooming_behavior2.32747972
17MP0001486_abnormal_startle_reflex2.31713445
18MP0003122_maternal_imprinting2.16939826
19MP0002733_abnormal_thermal_nociception2.15596489
20MP0002272_abnormal_nervous_system2.10327577
21MP0000569_abnormal_digit_pigmentation2.07538362
22MP0002557_abnormal_social/conspecific_i2.00014178
23MP0001529_abnormal_vocalization1.99509943
24MP0005645_abnormal_hypothalamus_physiol1.94869101
25MP0002735_abnormal_chemical_nociception1.94644140
26MP0000955_abnormal_spinal_cord1.92956137
27* MP0004811_abnormal_neuron_physiology1.91057874
28MP0001970_abnormal_pain_threshold1.90619128
29MP0002067_abnormal_sensory_capabilities1.84240682
30MP0001501_abnormal_sleep_pattern1.81195980
31MP0001984_abnormal_olfaction1.77126953
32MP0005386_behavior/neurological_phenoty1.73563181
33MP0004924_abnormal_behavior1.73563181
34MP0002638_abnormal_pupillary_reflex1.72729137
35MP0004858_abnormal_nervous_system1.70117038
36MP0002736_abnormal_nociception_after1.66875311
37MP0002882_abnormal_neuron_morphology1.63377661
38MP0003329_amyloid_beta_deposits1.57664903
39MP0002909_abnormal_adrenal_gland1.54903856
40MP0003123_paternal_imprinting1.53178188
41MP0003787_abnormal_imprinting1.49664292
42MP0008569_lethality_at_weaning1.43225947
43MP0002152_abnormal_brain_morphology1.42727488
44MP0002066_abnormal_motor_capabilities/c1.39945333
45MP0004142_abnormal_muscle_tone1.38143274
46MP0010386_abnormal_urinary_bladder1.35928987
47MP0008877_abnormal_DNA_methylation1.34530168
48MP0005394_taste/olfaction_phenotype1.33523432
49MP0005499_abnormal_olfactory_system1.33523432
50MP0002822_catalepsy1.31518952
51MP0001502_abnormal_circadian_rhythm1.30673437
52MP0004885_abnormal_endolymph1.28017180
53MP0001905_abnormal_dopamine_level1.26256840
54MP0005646_abnormal_pituitary_gland1.25532137
55MP0009780_abnormal_chondrocyte_physiolo1.21500937
56MP0001986_abnormal_taste_sensitivity1.21132911
57MP0003861_abnormal_nervous_system1.19503018
58MP0000631_abnormal_neuroendocrine_gland1.19376141
59MP0003121_genomic_imprinting1.16756970
60MP0004742_abnormal_vestibular_system1.13622026
61MP0000751_myopathy1.06465057
62MP0001188_hyperpigmentation1.05517886
63MP0002752_abnormal_somatic_nervous1.05012800
64MP0002102_abnormal_ear_morphology1.01526387
65MP0008789_abnormal_olfactory_epithelium0.99959789
66MP0003879_abnormal_hair_cell0.99096101
67MP0008961_abnormal_basal_metabolism0.98295550
68MP0002069_abnormal_eating/drinking_beha0.97591930
69MP0000537_abnormal_urethra_morphology0.96717913
70MP0002751_abnormal_autonomic_nervous0.92324789
71MP0005187_abnormal_penis_morphology0.89335124
72MP0002653_abnormal_ependyma_morphology0.88519802
73MP0003137_abnormal_impulse_conducting0.88508311
74MP0008995_early_reproductive_senescence0.84305567
75MP0005253_abnormal_eye_physiology0.83063099
76MP0002229_neurodegeneration0.80900242
77MP0003938_abnormal_ear_development0.80756912
78MP0000049_abnormal_middle_ear0.80521945
79MP0004145_abnormal_muscle_electrophysio0.79917533
80MP0003119_abnormal_digestive_system0.79468198
81MP0003890_abnormal_embryonic-extraembry0.78295100
82MP0003631_nervous_system_phenotype0.76369817
83MP0004085_abnormal_heartbeat0.75454586
84MP0003633_abnormal_nervous_system0.75100488
85MP0001963_abnormal_hearing_physiology0.74840848
86MP0003283_abnormal_digestive_organ0.74464621
87MP0006292_abnormal_olfactory_placode0.74051122
88MP0006072_abnormal_retinal_apoptosis0.73844792
89MP0004133_heterotaxia0.73526966
90MP0005551_abnormal_eye_electrophysiolog0.73217887
91MP0003634_abnormal_glial_cell0.72120411
92MP0001299_abnormal_eye_distance/0.71750006
93MP0004233_abnormal_muscle_weight0.71508089
94MP0000534_abnormal_ureter_morphology0.70163564
95MP0001943_abnormal_respiration0.69996017
96MP0002081_perinatal_lethality0.69950494
97MP0001348_abnormal_lacrimal_gland0.69806106
98MP0001177_atelectasis0.69155249
99MP0003011_delayed_dark_adaptation0.68652469
100MP0002082_postnatal_lethality0.68018393
101MP0010770_preweaning_lethality0.68018393
102MP0003632_abnormal_nervous_system0.67903394
103MP0010769_abnormal_survival0.66693739
104MP0000538_abnormal_urinary_bladder0.66506690
105MP0005195_abnormal_posterior_eye0.64446898
106MP0001485_abnormal_pinna_reflex0.63912916
107MP0010768_mortality/aging0.63862529
108MP0000026_abnormal_inner_ear0.63400234
109MP0005084_abnormal_gallbladder_morpholo0.62744357
110MP0002928_abnormal_bile_duct0.61599669
111MP0008872_abnormal_physiological_respon0.60635824
112MP0002837_dystrophic_cardiac_calcinosis0.59431603

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)5.90445478
2Focal motor seizures (HP:0011153)5.55025945
3Focal seizures (HP:0007359)4.83810354
4Supranuclear gaze palsy (HP:0000605)4.20480866
5Visual hallucinations (HP:0002367)4.08550821
6Epileptic encephalopathy (HP:0200134)3.79700483
7Progressive cerebellar ataxia (HP:0002073)3.78558433
8Polyphagia (HP:0002591)3.76345408
9Limb dystonia (HP:0002451)3.72141813
10Febrile seizures (HP:0002373)3.67143175
11Mutism (HP:0002300)3.62507210
12Ankle clonus (HP:0011448)3.61511112
13Amyotrophic lateral sclerosis (HP:0007354)3.46170826
14Broad-based gait (HP:0002136)3.41586647
15Atonic seizures (HP:0010819)3.32233693
16Failure to thrive in infancy (HP:0001531)3.23018954
17Drooling (HP:0002307)3.18841967
18Excessive salivation (HP:0003781)3.18841967
19Amblyopia (HP:0000646)3.17226007
20Abnormal eating behavior (HP:0100738)3.15586630
21Abnormality of the corticospinal tract (HP:0002492)3.09025523
22Absence seizures (HP:0002121)3.00234596
23Generalized tonic-clonic seizures (HP:0002069)2.98928970
24Urinary urgency (HP:0000012)2.91157588
25Impaired vibration sensation in the lower limbs (HP:0002166)2.88342243
26Hemiparesis (HP:0001269)2.81462869
27Spastic tetraplegia (HP:0002510)2.79375979
28Abnormality of the lower motor neuron (HP:0002366)2.78375620
29Aplasia/Hypoplasia of the brainstem (HP:0007362)2.77769434
30Hypoplasia of the brainstem (HP:0002365)2.77769434
31Action tremor (HP:0002345)2.76723337
32Dialeptic seizures (HP:0011146)2.72900244
33Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.69275030
34Degeneration of the lateral corticospinal tracts (HP:0002314)2.69275030
35Spastic gait (HP:0002064)2.68228109
36Urinary bladder sphincter dysfunction (HP:0002839)2.66586923
37Poor eye contact (HP:0000817)2.66331244
38Retinal dysplasia (HP:0007973)2.63270681
39Genetic anticipation (HP:0003743)2.58778016
40Impaired social interactions (HP:0000735)2.56931655
41Abnormal social behavior (HP:0012433)2.56931655
42Papilledema (HP:0001085)2.55986601
43Depression (HP:0000716)2.55656981
44Lissencephaly (HP:0001339)2.55289377
45Agitation (HP:0000713)2.54827562
46Progressive inability to walk (HP:0002505)2.54784121
47Medial flaring of the eyebrow (HP:0010747)2.50154969
48Congenital primary aphakia (HP:0007707)2.47519447
49Truncal ataxia (HP:0002078)2.45827857
50Akinesia (HP:0002304)2.45559268
51Epileptiform EEG discharges (HP:0011182)2.43863105
52EEG with generalized epileptiform discharges (HP:0011198)2.43474830
53Termporal pattern (HP:0011008)2.41998052
54Insidious onset (HP:0003587)2.41998052
55Specific learning disability (HP:0001328)2.41342759
56Torticollis (HP:0000473)2.40982602
57Abnormality of the labia minora (HP:0012880)2.40751736
58Sleep apnea (HP:0010535)2.40546045
59Nephrogenic diabetes insipidus (HP:0009806)2.38985428
60Hypsarrhythmia (HP:0002521)2.38743458
61Morphological abnormality of the pyramidal tract (HP:0002062)2.32235865
62Insomnia (HP:0100785)2.32125107
63Hyperventilation (HP:0002883)2.32084126
64Dysdiadochokinesis (HP:0002075)2.27679059
65Cerebral inclusion bodies (HP:0100314)2.26179098
66Neurofibrillary tangles (HP:0002185)2.26102454
67Fetal akinesia sequence (HP:0001989)2.25493656
68Esotropia (HP:0000565)2.25389180
69Shoulder girdle muscle weakness (HP:0003547)2.23428091
70Focal dystonia (HP:0004373)2.22825566
71Pheochromocytoma (HP:0002666)2.22233662
72Inappropriate behavior (HP:0000719)2.22050660
73Gait imbalance (HP:0002141)2.21638265
74Hypoventilation (HP:0002791)2.21225065
75Anxiety (HP:0000739)2.19148703
76Vaginal atresia (HP:0000148)2.18866048
77Genital tract atresia (HP:0001827)2.17327949
78Pachygyria (HP:0001302)2.14635421
79Lower limb muscle weakness (HP:0007340)2.12501810
80Hepatoblastoma (HP:0002884)2.12283602
81Exotropia (HP:0000577)2.11843751
82Gaze-evoked nystagmus (HP:0000640)2.11811405
83Dysmetria (HP:0001310)2.11228205
84Peripheral hypomyelination (HP:0007182)2.08797127
85Postural instability (HP:0002172)2.08573133
86Apathy (HP:0000741)2.08160712
87Diplopia (HP:0000651)2.06629731
88Abnormality of binocular vision (HP:0011514)2.06629731
89Craniofacial dystonia (HP:0012179)2.06100097
90Protruding tongue (HP:0010808)2.04831769
91Atrophy/Degeneration involving motor neurons (HP:0007373)2.04592230
92Stereotypic behavior (HP:0000733)2.03442569
93Polymicrogyria (HP:0002126)2.02993514
94Poor suck (HP:0002033)2.02775982
95Muscular hypotonia of the trunk (HP:0008936)2.01800304
96Pointed chin (HP:0000307)2.00836477
97Status epilepticus (HP:0002133)1.99450249
98Abnormal hair whorl (HP:0010721)1.99033847
99Abnormality of salivation (HP:0100755)1.97776010
100Impaired smooth pursuit (HP:0007772)1.95858645
101Neoplasm of the heart (HP:0100544)1.94750504
102Bradykinesia (HP:0002067)1.93992752
103Paraplegia (HP:0010550)1.93833489
104Sporadic (HP:0003745)1.92576033
105Narrow nasal bridge (HP:0000446)1.92368792
106Megalencephaly (HP:0001355)1.92294473
107Inability to walk (HP:0002540)1.92011019
108Hypoplasia of the corpus callosum (HP:0002079)1.91699246
109Hyperacusis (HP:0010780)1.89626625
110Cortical dysplasia (HP:0002539)1.89493260
111Intellectual disability, severe (HP:0010864)1.88827030
112Absent speech (HP:0001344)1.87441176
113Elfin facies (HP:0004428)1.87281627
114Restlessness (HP:0000711)1.86744353
115Generalized hypotonia (HP:0001290)1.85746433
116Sacral dimple (HP:0000960)1.84915557
117Neuroendocrine neoplasm (HP:0100634)1.84592117
118Ulnar claw (HP:0001178)1.83010177
119Intention tremor (HP:0002080)1.81399911
120Abnormality of midbrain morphology (HP:0002418)1.77177076
121Molar tooth sign on MRI (HP:0002419)1.77177076
122Cerebral hypomyelination (HP:0006808)1.76352561
123Narrow forehead (HP:0000341)1.76091989
124Type II lissencephaly (HP:0007260)1.73259592
125Clonus (HP:0002169)1.73038743
126Poor coordination (HP:0002370)1.72372032
127Nephronophthisis (HP:0000090)1.69905725
128Incomplete penetrance (HP:0003829)1.69836402
129Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.65358980
130Shawl scrotum (HP:0000049)1.63652866
131Spastic paraplegia (HP:0001258)1.63501220
132Split foot (HP:0001839)1.63455110
133Decreased muscle mass (HP:0003199)1.61894640
134Impaired vibratory sensation (HP:0002495)1.60754155

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK16.40817569
2MAP3K93.66420119
3NTRK33.24746255
4MAP3K43.02029787
5MINK12.94098450
6NTRK22.75496048
7MAP2K72.45771524
8MAPK132.36536813
9DYRK22.30694441
10KSR12.25293070
11EPHA42.23355517
12PAK62.13889569
13SIK22.09496775
14UHMK12.01587583
15PNCK1.86356109
16MAP3K121.84519079
17TRIM281.76017341
18DAPK21.73922374
19SIK31.73024402
20CASK1.72293083
21MAP2K41.69452404
22MAP4K21.68368225
23PHKG11.63680972
24PHKG21.63680972
25PINK11.57619120
26TNIK1.51025504
27CDK51.49015760
28ERBB31.46077662
29BCR1.44509112
30EPHA31.41556573
31LATS21.31658842
32CDK191.29083881
33WNK31.22581468
34CSNK1G21.21646573
35DYRK31.18478245
36TYRO31.15948791
37CDK181.14846420
38KSR21.14777530
39LIMK11.12986678
40NTRK11.10625607
41PRKCG1.08584887
42CDK151.06416728
43CDK141.05847671
44GRK51.04566670
45PLK21.03018739
46CAMKK11.02835712
47DYRK1B1.02382466
48DYRK1A1.01051680
49EPHB20.99744084
50ICK0.99180642
51DAPK10.98619094
52PAK30.94680128
53CDK11A0.94432431
54CSNK1G30.93556823
55MARK20.85505917
56PRKD30.78045396
57CAMK2A0.73958754
58PRKCZ0.72715994
59STK110.71980336
60CSNK1A1L0.70530998
61SGK4940.70264795
62SGK2230.70264795
63WNK40.69717106
64CAMK1G0.66161190
65RET0.64228559
66TESK10.63671478
67CAMK2B0.61120512
68IRAK20.60184148
69ADRBK20.59452057
70TAOK10.59144256
71STK380.58922160
72FES0.58522473
73RPS6KA20.57798297
74STK160.56396551
75BMPR1B0.56182433
76MAP3K60.54776117
77PKN10.54311290
78ERBB20.52660210
79CSNK1G10.49897120
80PRPF4B0.48524286
81PRKACA0.48054000
82ALK0.47992611
83MAPK90.47809645
84RPS6KA40.46535850
85CAMK10.46468977
86OXSR10.46036405
87FYN0.44808616
88SGK10.43947105
89NME10.43710560
90MAP3K20.43314126
91CSNK1E0.42718260
92CSNK1D0.42107362
93CDC42BPA0.41400267
94RIPK40.40618917
95RPS6KA30.39337372
96FGFR20.38668511
97PRKCE0.37838548
98INSRR0.37821278
99CSNK1A10.37768478
100CAMK40.37395389
101SGK30.37352232
102GRK10.36535474
103MAPK100.36190651
104CAMK2G0.35201564
105PRKG10.34882713
106CAMKK20.34739786
107SGK20.34481927
108PRKAA10.33158489
109NEK10.32844376
110PRKACB0.32234272
111SRPK10.31966370
112MAPK80.31959119
113ADRBK10.31023965
114ROCK20.30815059
115FRK0.29603630
116SCYL20.29230483
117PRKCH0.29016999
118GSK3B0.28570176
119PRKCB0.28153856
120ROCK10.27723392
121MAP2K60.26543226
122PRKACG0.25665454

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.01828993
2Synaptic vesicle cycle_Homo sapiens_hsa047213.43719873
3GABAergic synapse_Homo sapiens_hsa047272.62340510
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.53969849
5Circadian entrainment_Homo sapiens_hsa047132.47496149
6Glutamatergic synapse_Homo sapiens_hsa047242.46139254
7Dopaminergic synapse_Homo sapiens_hsa047282.34388916
8Long-term potentiation_Homo sapiens_hsa047202.33550127
9Olfactory transduction_Homo sapiens_hsa047402.33298399
10Morphine addiction_Homo sapiens_hsa050322.28045437
11Amphetamine addiction_Homo sapiens_hsa050312.20476985
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.18151649
13Axon guidance_Homo sapiens_hsa043602.08123634
14Cholinergic synapse_Homo sapiens_hsa047252.05162605
15Cocaine addiction_Homo sapiens_hsa050301.85244954
16Insulin secretion_Homo sapiens_hsa049111.83325611
17Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.81197837
18Serotonergic synapse_Homo sapiens_hsa047261.77856613
19Taste transduction_Homo sapiens_hsa047421.71362326
20Gap junction_Homo sapiens_hsa045401.66166637
21Long-term depression_Homo sapiens_hsa047301.65968608
22Salivary secretion_Homo sapiens_hsa049701.65360778
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.62578903
24Aldosterone synthesis and secretion_Homo sapiens_hsa049251.60428696
25Gastric acid secretion_Homo sapiens_hsa049711.52110521
26Oxytocin signaling pathway_Homo sapiens_hsa049211.46223560
27GnRH signaling pathway_Homo sapiens_hsa049121.39361222
28Renin secretion_Homo sapiens_hsa049241.38332761
29Collecting duct acid secretion_Homo sapiens_hsa049661.27606868
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.26651642
31Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.24911384
32ErbB signaling pathway_Homo sapiens_hsa040121.23937316
33Type II diabetes mellitus_Homo sapiens_hsa049301.23266063
34Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.21374373
35Calcium signaling pathway_Homo sapiens_hsa040201.21262679
36Estrogen signaling pathway_Homo sapiens_hsa049151.20039422
37Steroid biosynthesis_Homo sapiens_hsa001001.18078179
38Oocyte meiosis_Homo sapiens_hsa041141.13573860
39Butanoate metabolism_Homo sapiens_hsa006501.12356817
40Cardiac muscle contraction_Homo sapiens_hsa042601.11844332
41Melanogenesis_Homo sapiens_hsa049161.09201059
42Glioma_Homo sapiens_hsa052141.08580375
43Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.08433844
44Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.07562316
45Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.07103947
46cAMP signaling pathway_Homo sapiens_hsa040241.02263236
47Phototransduction_Homo sapiens_hsa047441.00435873
48Endometrial cancer_Homo sapiens_hsa052130.98996532
49Vibrio cholerae infection_Homo sapiens_hsa051100.95927984
50Colorectal cancer_Homo sapiens_hsa052100.95771986
51Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.87854237
52Alcoholism_Homo sapiens_hsa050340.85980520
53Neurotrophin signaling pathway_Homo sapiens_hsa047220.85891004
54Phosphatidylinositol signaling system_Homo sapiens_hsa040700.82374025
55Wnt signaling pathway_Homo sapiens_hsa043100.80300548
56Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.79618657
57Regulation of autophagy_Homo sapiens_hsa041400.78825631
58Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.78825311
59Renal cell carcinoma_Homo sapiens_hsa052110.77474241
60cGMP-PKG signaling pathway_Homo sapiens_hsa040220.77350368
61MAPK signaling pathway_Homo sapiens_hsa040100.77272570
62Choline metabolism in cancer_Homo sapiens_hsa052310.77135539
63Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.76126912
64Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.75945656
65Phospholipase D signaling pathway_Homo sapiens_hsa040720.75824641
66Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.74757335
67Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.73956279
68Protein export_Homo sapiens_hsa030600.70612429
69VEGF signaling pathway_Homo sapiens_hsa043700.70420556
70mTOR signaling pathway_Homo sapiens_hsa041500.68068643
71Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.67350150
72Dorso-ventral axis formation_Homo sapiens_hsa043200.65867530
73Ether lipid metabolism_Homo sapiens_hsa005650.64917204
74Ras signaling pathway_Homo sapiens_hsa040140.63854426
75Thyroid hormone signaling pathway_Homo sapiens_hsa049190.62429041
76Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.62187649
77Alzheimers disease_Homo sapiens_hsa050100.61303512
78Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.58933985
79Dilated cardiomyopathy_Homo sapiens_hsa054140.58700692
80Hedgehog signaling pathway_Homo sapiens_hsa043400.58277005
81Sphingolipid signaling pathway_Homo sapiens_hsa040710.57827782
82Insulin signaling pathway_Homo sapiens_hsa049100.57800323
83Vascular smooth muscle contraction_Homo sapiens_hsa042700.56498633
84Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.56493715
85Thyroid hormone synthesis_Homo sapiens_hsa049180.53908612
86Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.53859783
87Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.53694311
88Parkinsons disease_Homo sapiens_hsa050120.53334918
89Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.53203755
90Circadian rhythm_Homo sapiens_hsa047100.52691840
91Endocytosis_Homo sapiens_hsa041440.52503564
92Rap1 signaling pathway_Homo sapiens_hsa040150.51981191
93Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.51832204
94Glucagon signaling pathway_Homo sapiens_hsa049220.51497183
95Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.50741560
96Hippo signaling pathway_Homo sapiens_hsa043900.50636167
97Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.49893366
98Longevity regulating pathway - mammal_Homo sapiens_hsa042110.48709847
99Pancreatic secretion_Homo sapiens_hsa049720.47045740
100Carbohydrate digestion and absorption_Homo sapiens_hsa049730.45837302
101Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.45541241
102Non-small cell lung cancer_Homo sapiens_hsa052230.45113903
103Prion diseases_Homo sapiens_hsa050200.44621352
104Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.44043866
105Basal cell carcinoma_Homo sapiens_hsa052170.43576240
106Oxidative phosphorylation_Homo sapiens_hsa001900.43132436
107Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.42263112
108AMPK signaling pathway_Homo sapiens_hsa041520.41075653
109Phagosome_Homo sapiens_hsa041450.40658101
110Huntingtons disease_Homo sapiens_hsa050160.40227129
111Ovarian steroidogenesis_Homo sapiens_hsa049130.38178294
112Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.36549042
113Type I diabetes mellitus_Homo sapiens_hsa049400.36178433
114Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.36047383
115Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.35502791
116Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.35470513
117Fatty acid biosynthesis_Homo sapiens_hsa000610.35295555
118alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.35152487
119Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.33781314
120Salmonella infection_Homo sapiens_hsa051320.32652480
121Maturity onset diabetes of the young_Homo sapiens_hsa049500.27053889
122Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.26168729
123Linoleic acid metabolism_Homo sapiens_hsa005910.23146043

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