UNC80

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: The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.10013966
2positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.55401046
3locomotory exploration behavior (GO:0035641)5.52443134
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.44225143
5synaptic vesicle maturation (GO:0016188)5.42402526
6synaptic vesicle exocytosis (GO:0016079)5.29318587
7vocalization behavior (GO:0071625)5.13013546
8neuronal action potential propagation (GO:0019227)5.06396916
9regulation of synaptic vesicle exocytosis (GO:2000300)4.93125307
10glutamate secretion (GO:0014047)4.92579235
11ionotropic glutamate receptor signaling pathway (GO:0035235)4.90782704
12regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.77911808
13synaptic vesicle docking involved in exocytosis (GO:0016081)4.76347126
14regulation of glutamate receptor signaling pathway (GO:1900449)4.51102867
15neurotransmitter secretion (GO:0007269)4.48755411
16glutamate receptor signaling pathway (GO:0007215)4.47955390
17synaptic transmission, glutamatergic (GO:0035249)4.45839479
18regulation of synaptic vesicle transport (GO:1902803)4.44362349
19protein localization to synapse (GO:0035418)4.39278338
20neuron cell-cell adhesion (GO:0007158)4.29285139
21cellular potassium ion homeostasis (GO:0030007)4.25694413
22neuron-neuron synaptic transmission (GO:0007270)4.24687225
23exploration behavior (GO:0035640)4.13213101
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.12593906
25regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.12347647
26gamma-aminobutyric acid transport (GO:0015812)4.11643851
27regulation of neuronal synaptic plasticity (GO:0048168)4.09669363
28membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.07587485
29cerebellar Purkinje cell differentiation (GO:0021702)4.01903657
30long-term memory (GO:0007616)3.98744831
31regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.94870495
32neurotransmitter-gated ion channel clustering (GO:0072578)3.89013811
33neuromuscular process controlling posture (GO:0050884)3.84057732
34gamma-aminobutyric acid signaling pathway (GO:0007214)3.81891234
35regulation of excitatory postsynaptic membrane potential (GO:0060079)3.80492558
36positive regulation of membrane potential (GO:0045838)3.76996573
37neurotransmitter transport (GO:0006836)3.75351926
38negative regulation of cytosolic calcium ion concentration (GO:0051481)3.74999875
39G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.74057488
40sodium ion export (GO:0071436)3.72538577
41serotonin metabolic process (GO:0042428)3.70299881
42regulation of postsynaptic membrane potential (GO:0060078)3.69583899
43cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.64175778
44transmission of nerve impulse (GO:0019226)3.60803054
45positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.53416615
46membrane depolarization during action potential (GO:0086010)3.50688796
47positive regulation of synapse maturation (GO:0090129)3.50558033
48regulation of synapse structural plasticity (GO:0051823)3.47987413
49activation of protein kinase A activity (GO:0034199)3.47677894
50long-term synaptic potentiation (GO:0060291)3.47471524
51synaptic vesicle endocytosis (GO:0048488)3.47033058
52regulation of vesicle fusion (GO:0031338)3.46056597
53layer formation in cerebral cortex (GO:0021819)3.44225618
54cerebellar granule cell differentiation (GO:0021707)3.43815825
55proline transport (GO:0015824)3.43187900
56dendritic spine morphogenesis (GO:0060997)3.41642934
57regulation of synaptic plasticity (GO:0048167)3.40876535
58central nervous system myelination (GO:0022010)3.39814971
59axon ensheathment in central nervous system (GO:0032291)3.39814971
60regulation of neurotransmitter levels (GO:0001505)3.39133533
61regulation of neurotransmitter secretion (GO:0046928)3.38232902
62regulation of synaptic transmission, glutamatergic (GO:0051966)3.35190980
63primary amino compound metabolic process (GO:1901160)3.34141646
64membrane hyperpolarization (GO:0060081)3.30662463
65response to histamine (GO:0034776)3.29788491
66cell communication by electrical coupling (GO:0010644)3.28084314
67membrane depolarization (GO:0051899)3.27489183
68negative regulation of synaptic transmission, GABAergic (GO:0032229)3.27016071
69neuromuscular process controlling balance (GO:0050885)3.25640731
70neuron recognition (GO:0008038)3.24990500
71positive regulation of synaptic transmission, GABAergic (GO:0032230)3.24648664
72regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.21803205
73presynaptic membrane assembly (GO:0097105)3.20001050
74innervation (GO:0060384)3.19142731
75positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.18443349
76chemosensory behavior (GO:0007635)3.17227081
77righting reflex (GO:0060013)3.16563321
78regulation of neurotransmitter transport (GO:0051588)3.14256737
79neuronal action potential (GO:0019228)3.11757157
80postsynaptic membrane organization (GO:0001941)3.11401370
81detection of calcium ion (GO:0005513)3.11245286
82prepulse inhibition (GO:0060134)3.08553718
83glycine transport (GO:0015816)3.04281875
84regulation of dendritic spine morphogenesis (GO:0061001)3.03315822
85positive regulation of neurotransmitter transport (GO:0051590)3.02668889
86auditory behavior (GO:0031223)3.02221186
87synaptic transmission (GO:0007268)3.02064506
88response to auditory stimulus (GO:0010996)3.01625837
89presynaptic membrane organization (GO:0097090)3.01539073
90positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.01529085
91axonal fasciculation (GO:0007413)3.01095671
92vesicle transport along microtubule (GO:0047496)3.00744076
93positive regulation of neurotransmitter secretion (GO:0001956)3.00431800
94regulation of calcium ion-dependent exocytosis (GO:0017158)2.99398188
95adult walking behavior (GO:0007628)2.98094850
96long term synaptic depression (GO:0060292)2.97951615
97potassium ion import (GO:0010107)2.97802423
98behavioral response to nicotine (GO:0035095)2.97695681
99negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.97363405
100cell differentiation in hindbrain (GO:0021533)2.95567115
101response to pheromone (GO:0019236)2.95512655
102behavioral defense response (GO:0002209)2.95050121
103behavioral fear response (GO:0001662)2.95050121
104learning (GO:0007612)2.94704853
105insulin secretion (GO:0030073)2.94682490
106startle response (GO:0001964)2.94664665
107synapse assembly (GO:0007416)2.94602530
108positive regulation of synaptic transmission (GO:0050806)2.94252249
109fear response (GO:0042596)2.93341553
110reflex (GO:0060004)2.90539038
111neuromuscular synaptic transmission (GO:0007274)2.85450980
112cellular potassium ion transport (GO:0071804)2.83793739
113potassium ion transmembrane transport (GO:0071805)2.83793739
114regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.81359935
115neuronal ion channel clustering (GO:0045161)2.81155484
116detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.76078914
117L-amino acid import (GO:0043092)2.75254302
118urinary tract smooth muscle contraction (GO:0014848)2.72090144
119establishment of protein localization to Golgi (GO:0072600)2.71126025
120negative regulation of neurotransmitter transport (GO:0051589)2.67724276
121positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.67626409
122potassium ion transport (GO:0006813)2.65633589
123glycosphingolipid biosynthetic process (GO:0006688)2.63976910
124central nervous system neuron axonogenesis (GO:0021955)2.63259707
125retinal cone cell development (GO:0046549)2.62952629
126cellular ketone body metabolic process (GO:0046950)2.62259896
127regulation of voltage-gated calcium channel activity (GO:1901385)2.61930235
128mechanosensory behavior (GO:0007638)2.61724310
129C4-dicarboxylate transport (GO:0015740)2.61342629
130indole-containing compound metabolic process (GO:0042430)2.59920007
131calcium ion-dependent exocytosis (GO:0017156)2.59093995
132regulation of neurotransmitter uptake (GO:0051580)2.57493400
133action potential (GO:0001508)2.56667905
134central nervous system projection neuron axonogenesis (GO:0021952)2.56255828
135regulation of respiratory system process (GO:0044065)2.52673961
136regulation of synapse maturation (GO:0090128)2.50491283

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.90649032
2GBX2_23144817_ChIP-Seq_PC3_Human3.84510577
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.02175266
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.98920442
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.86795658
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.80093606
7DROSHA_22980978_ChIP-Seq_HELA_Human2.63491699
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.53840523
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.53840523
10RARB_27405468_Chip-Seq_BRAIN_Mouse2.51236124
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.48417821
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.47345375
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.44687664
14* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.43989225
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.35852634
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.35470273
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.28501175
18REST_18959480_ChIP-ChIP_MESCs_Mouse2.24855045
19ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.17001998
20EED_16625203_ChIP-ChIP_MESCs_Mouse2.15865305
21* EZH2_27294783_Chip-Seq_ESCs_Mouse2.08757948
22* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.06719700
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.05670556
24IKZF1_21737484_ChIP-ChIP_HCT116_Human2.02848448
25CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.02848258
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.96179961
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.93899900
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.86792107
29SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.84655758
30* SMAD4_21799915_ChIP-Seq_A2780_Human1.80939362
31VDR_22108803_ChIP-Seq_LS180_Human1.79830271
32NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.77356827
33FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.76037499
34MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.74223575
35EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.72499096
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.68926616
37TAF15_26573619_Chip-Seq_HEK293_Human1.68117206
38AR_21572438_ChIP-Seq_LNCaP_Human1.61769883
39ZNF274_21170338_ChIP-Seq_K562_Hela1.52113020
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.51815153
41* FLI1_27457419_Chip-Seq_LIVER_Mouse1.51036581
42ZFP57_27257070_Chip-Seq_ESCs_Mouse1.50724461
43POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.47163956
44BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.44062157
45STAT3_23295773_ChIP-Seq_U87_Human1.43551589
46ER_23166858_ChIP-Seq_MCF-7_Human1.42901333
47P300_19829295_ChIP-Seq_ESCs_Human1.42072135
48ERG_21242973_ChIP-ChIP_JURKAT_Human1.39142664
49GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.38841665
50SOX2_21211035_ChIP-Seq_LN229_Gbm1.37549925
51NR3C1_23031785_ChIP-Seq_PC12_Mouse1.36705478
52PIAS1_25552417_ChIP-Seq_VCAP_Human1.32867762
53SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31120569
54SMAD3_21741376_ChIP-Seq_EPCs_Human1.30873535
55AR_19668381_ChIP-Seq_PC3_Human1.30169086
56IGF1R_20145208_ChIP-Seq_DFB_Human1.30026283
57IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.29682904
58CBP_20019798_ChIP-Seq_JUKART_Human1.29682904
59TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.27760062
60* AR_25329375_ChIP-Seq_VCAP_Human1.27752770
61PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.25901583
62RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.25577681
63TCF4_23295773_ChIP-Seq_U87_Human1.23128190
64* PCGF2_27294783_Chip-Seq_ESCs_Mouse1.22877149
65SMAD_19615063_ChIP-ChIP_OVARY_Human1.22473117
66TOP2B_26459242_ChIP-Seq_MCF-7_Human1.21242545
67OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19703479
68POU3F2_20337985_ChIP-ChIP_501MEL_Human1.19608032
69ZNF217_24962896_ChIP-Seq_MCF-7_Human1.15203258
70* RING1B_27294783_Chip-Seq_ESCs_Mouse1.14822258
71PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.14406238
72EWS_26573619_Chip-Seq_HEK293_Human1.14370570
73TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14325834
74* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.14280844
75WT1_25993318_ChIP-Seq_PODOCYTE_Human1.13070118
76FLI1_21867929_ChIP-Seq_TH2_Mouse1.12935436
77* TCF4_22108803_ChIP-Seq_LS180_Human1.12487507
78CBX2_27304074_Chip-Seq_ESCs_Mouse1.11810191
79TP53_16413492_ChIP-PET_HCT116_Human1.11390681
80RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.10764775
81* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.10581798
82YAP1_20516196_ChIP-Seq_MESCs_Mouse1.09878211
83SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09748893
84SMAD4_21741376_ChIP-Seq_EPCs_Human1.09562668
85KDM2B_26808549_Chip-Seq_REH_Human1.09324825
86ARNT_22903824_ChIP-Seq_MCF-7_Human1.09281069
87* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.08536132
88CDX2_19796622_ChIP-Seq_MESCs_Mouse1.08494881
89* SUZ12_27294783_Chip-Seq_NPCs_Mouse1.07648807
90KLF5_20875108_ChIP-Seq_MESCs_Mouse1.06894535
91* P53_22387025_ChIP-Seq_ESCs_Mouse1.06358077
92P53_22127205_ChIP-Seq_FIBROBLAST_Human1.06306941
93BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.05724369
94AHR_22903824_ChIP-Seq_MCF-7_Human1.04974063
95RUNX2_22187159_ChIP-Seq_PCA_Human1.04337426
96EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.04079299
97* E2F1_18555785_Chip-Seq_ESCs_Mouse1.02987961
98LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02613202
99DNAJC2_21179169_ChIP-ChIP_NT2_Human1.02040376
100TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.01885389
101* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01790510
102RNF2_27304074_Chip-Seq_NSC_Mouse1.00190223
103SMAD3_21741376_ChIP-Seq_ESCs_Human0.98384912
104RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.97698262
105NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97470566
106RING1B_27294783_Chip-Seq_NPCs_Mouse0.96990599
107* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.95650910
108TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.95454265
109* NANOG_18555785_Chip-Seq_ESCs_Mouse0.94583525
110SMAD3_21741376_ChIP-Seq_HESCs_Human0.93360662
111FUS_26573619_Chip-Seq_HEK293_Human0.93179515
112SMAD4_21741376_ChIP-Seq_HESCs_Human0.92635697
113BCAT_22108803_ChIP-Seq_LS180_Human0.92160171
114PRDM14_20953172_ChIP-Seq_ESCs_Human0.90202523
115KDM2B_26808549_Chip-Seq_K562_Human0.89867229
116UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.88872320
117EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.88546499
118TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87025558
119GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86375488
120RXR_22108803_ChIP-Seq_LS180_Human0.86168863
121MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.86041406
122CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85844031
123TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85251102

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.01593012
2MP0003880_abnormal_central_pattern4.69647931
3MP0003635_abnormal_synaptic_transmissio4.09504722
4MP0004270_analgesia3.57401051
5MP0009046_muscle_twitch3.52295653
6MP0009745_abnormal_behavioral_response3.39656834
7MP0002064_seizures3.22415554
8MP0002063_abnormal_learning/memory/cond3.15966685
9MP0001968_abnormal_touch/_nociception2.91574812
10MP0002272_abnormal_nervous_system2.80400513
11MP0002572_abnormal_emotion/affect_behav2.80207329
12MP0005423_abnormal_somatic_nervous2.68154179
13MP0002734_abnormal_mechanical_nocicepti2.60551138
14MP0001486_abnormal_startle_reflex2.53078149
15MP0001501_abnormal_sleep_pattern2.47087338
16MP0002822_catalepsy2.40358467
17MP0002736_abnormal_nociception_after2.20006395
18MP0002909_abnormal_adrenal_gland2.17411928
19MP0002735_abnormal_chemical_nociception2.14343658
20MP0002067_abnormal_sensory_capabilities2.12536903
21MP0008569_lethality_at_weaning2.12235392
22MP0001440_abnormal_grooming_behavior2.10836563
23MP0009780_abnormal_chondrocyte_physiolo2.07127398
24MP0003195_calcinosis2.00768551
25MP0008877_abnormal_DNA_methylation1.98099360
26MP0002733_abnormal_thermal_nociception1.96897324
27MP0001970_abnormal_pain_threshold1.91517230
28MP0005646_abnormal_pituitary_gland1.88074350
29MP0002184_abnormal_innervation1.78680884
30MP0004924_abnormal_behavior1.71925792
31MP0005386_behavior/neurological_phenoty1.71925792
32MP0002557_abnormal_social/conspecific_i1.71172057
33MP0003879_abnormal_hair_cell1.68135216
34MP0004811_abnormal_neuron_physiology1.57230762
35MP0005645_abnormal_hypothalamus_physiol1.57192468
36MP0003787_abnormal_imprinting1.57051733
37MP0006276_abnormal_autonomic_nervous1.53232809
38MP0003283_abnormal_digestive_organ1.52252525
39MP0003329_amyloid_beta_deposits1.52083176
40MP0004145_abnormal_muscle_electrophysio1.51711063
41MP0000955_abnormal_spinal_cord1.51050330
42MP0001984_abnormal_olfaction1.50744262
43MP0005551_abnormal_eye_electrophysiolog1.44979369
44MP0004858_abnormal_nervous_system1.44661610
45MP0003122_maternal_imprinting1.42791061
46MP0001502_abnormal_circadian_rhythm1.42769859
47MP0004142_abnormal_muscle_tone1.41996549
48MP0000778_abnormal_nervous_system1.41789893
49MP0002066_abnormal_motor_capabilities/c1.41074012
50MP0003633_abnormal_nervous_system1.40286126
51MP0002882_abnormal_neuron_morphology1.38116631
52MP0004885_abnormal_endolymph1.36443020
53MP0010386_abnormal_urinary_bladder1.34843600
54MP0004147_increased_porphyrin_level1.26255817
55MP0000013_abnormal_adipose_tissue1.25812135
56MP0004043_abnormal_pH_regulation1.25761618
57MP0001188_hyperpigmentation1.22806642
58MP0002229_neurodegeneration1.18356423
59MP0003631_nervous_system_phenotype1.14197257
60MP0001986_abnormal_taste_sensitivity1.10669903
61MP0001529_abnormal_vocalization1.10551890
62MP0008057_abnormal_DNA_replication1.09511892
63MP0006072_abnormal_retinal_apoptosis1.09506393
64MP0002837_dystrophic_cardiac_calcinosis1.00487341
65MP0000427_abnormal_hair_cycle1.00382661
66MP0001905_abnormal_dopamine_level1.00300341
67MP0002152_abnormal_brain_morphology1.00041727
68MP0008872_abnormal_physiological_respon0.99479698
69MP0003121_genomic_imprinting0.96202926
70MP0002638_abnormal_pupillary_reflex0.95651094
71MP0000569_abnormal_digit_pigmentation0.94436026
72MP0005167_abnormal_blood-brain_barrier0.94049671
73MP0004742_abnormal_vestibular_system0.93315914
74MP0002069_abnormal_eating/drinking_beha0.93195345
75MP0008961_abnormal_basal_metabolism0.91462728
76MP0005535_abnormal_body_temperature0.91285588
77MP0002102_abnormal_ear_morphology0.88431896
78MP0005174_abnormal_tail_pigmentation0.87732742
79MP0004085_abnormal_heartbeat0.86245072
80MP0003690_abnormal_glial_cell0.84009546
81MP0003632_abnormal_nervous_system0.83947380
82MP0005253_abnormal_eye_physiology0.82014790
83MP0000631_abnormal_neuroendocrine_gland0.81536534
84MP0008874_decreased_physiological_sensi0.80470616
85MP0003634_abnormal_glial_cell0.80119084
86MP0001963_abnormal_hearing_physiology0.79743086
87MP0003183_abnormal_peptide_metabolism0.79540677
88MP0002928_abnormal_bile_duct0.78572084
89MP0001177_atelectasis0.78556995
90MP0004215_abnormal_myocardial_fiber0.77337078
91MP0003123_paternal_imprinting0.75960484
92MP0002090_abnormal_vision0.75902964
93MP0003646_muscle_fatigue0.75400543
94MP0001485_abnormal_pinna_reflex0.75206563
95MP0002752_abnormal_somatic_nervous0.75160095
96MP0002078_abnormal_glucose_homeostasis0.74608222
97MP0000751_myopathy0.73107336
98MP0002876_abnormal_thyroid_physiology0.71342208
99MP0000639_abnormal_adrenal_gland0.71103451
100MP0000920_abnormal_myelination0.71031527
101MP0003045_fibrosis0.70755404
102MP0003172_abnormal_lysosome_physiology0.68853941
103MP0005394_taste/olfaction_phenotype0.68618696
104MP0005499_abnormal_olfactory_system0.68618696
105MP0001299_abnormal_eye_distance/0.67560978
106MP0005448_abnormal_energy_balance0.66167801
107MP0000383_abnormal_hair_follicle0.65880232
108MP0004133_heterotaxia0.64408123
109MP0003137_abnormal_impulse_conducting0.63188199
110MP0002693_abnormal_pancreas_physiology0.63141129
111MP0005220_abnormal_exocrine_pancreas0.62932693
112MP0003075_altered_response_to0.61986460
113MP0005409_darkened_coat_color0.61010025
114MP0004233_abnormal_muscle_weight0.60658323
115MP0001765_abnormal_ion_homeostasis0.58678326
116MP0005379_endocrine/exocrine_gland_phen0.57821040
117MP0001944_abnormal_pancreas_morphology0.55848374
118MP0001664_abnormal_digestion0.55801610
119MP0000604_amyloidosis0.54885085

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.07608548
2Myokymia (HP:0002411)5.93591094
3Focal seizures (HP:0007359)5.86582502
4Visual hallucinations (HP:0002367)5.43322685
5Atonic seizures (HP:0010819)5.03242653
6Febrile seizures (HP:0002373)4.99044681
7Epileptic encephalopathy (HP:0200134)4.93870117
8Progressive cerebellar ataxia (HP:0002073)4.79205452
9Absence seizures (HP:0002121)4.56200591
10Action tremor (HP:0002345)4.39498322
11Dialeptic seizures (HP:0011146)4.14905842
12Generalized tonic-clonic seizures (HP:0002069)4.06481477
13Gaze-evoked nystagmus (HP:0000640)3.91612735
14Broad-based gait (HP:0002136)3.66642624
15Dysdiadochokinesis (HP:0002075)3.54093177
16Truncal ataxia (HP:0002078)3.43843657
17Supranuclear gaze palsy (HP:0000605)3.27815906
18Impaired smooth pursuit (HP:0007772)3.26528535
19Depression (HP:0000716)3.21848175
20Dysmetria (HP:0001310)3.21626786
21Poor eye contact (HP:0000817)3.20898158
22Hyperventilation (HP:0002883)3.18650961
23Impaired vibration sensation in the lower limbs (HP:0002166)2.99591856
24Scanning speech (HP:0002168)2.99326290
25Genetic anticipation (HP:0003743)2.99256981
26Anxiety (HP:0000739)2.98720724
27Impaired social interactions (HP:0000735)2.96019870
28Abnormal social behavior (HP:0012433)2.96019870
29Postural instability (HP:0002172)2.93218334
30Hemiparesis (HP:0001269)2.90684604
31Abnormality of ocular smooth pursuit (HP:0000617)2.86582167
32Ankle clonus (HP:0011448)2.84595294
33Hemiplegia (HP:0002301)2.83926723
34Papilledema (HP:0001085)2.79052397
35Medial flaring of the eyebrow (HP:0010747)2.78099944
36Urinary bladder sphincter dysfunction (HP:0002839)2.77504132
37Epileptiform EEG discharges (HP:0011182)2.77420615
38Abnormal eating behavior (HP:0100738)2.74816883
39Dysmetric saccades (HP:0000641)2.73963165
40Pancreatic cysts (HP:0001737)2.72856842
41Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.68010454
42True hermaphroditism (HP:0010459)2.66157820
43Amblyopia (HP:0000646)2.65800526
44Pancreatic fibrosis (HP:0100732)2.65257967
45Excessive salivation (HP:0003781)2.65022410
46Drooling (HP:0002307)2.65022410
47Intention tremor (HP:0002080)2.63608984
48EEG with generalized epileptiform discharges (HP:0011198)2.63483530
49Diplopia (HP:0000651)2.61612007
50Abnormality of binocular vision (HP:0011514)2.61612007
51Large for gestational age (HP:0001520)2.50718287
52Agitation (HP:0000713)2.50580584
53Abnormality of the lower motor neuron (HP:0002366)2.49516922
54Status epilepticus (HP:0002133)2.46885531
55Hypsarrhythmia (HP:0002521)2.43476159
56Bradykinesia (HP:0002067)2.40395212
57Spastic gait (HP:0002064)2.40275475
58Pheochromocytoma (HP:0002666)2.39684471
59Ventricular fibrillation (HP:0001663)2.38113965
60Clumsiness (HP:0002312)2.36730588
61Polydipsia (HP:0001959)2.36681436
62Abnormal drinking behavior (HP:0030082)2.36681436
63Nephronophthisis (HP:0000090)2.36500989
64Absent speech (HP:0001344)2.36267431
65Attenuation of retinal blood vessels (HP:0007843)2.35304043
66Stereotypic behavior (HP:0000733)2.26731743
67Congenital primary aphakia (HP:0007707)2.26081706
68Abnormality of the renal cortex (HP:0011035)2.24515356
69Chronic hepatic failure (HP:0100626)2.24172465
70Ketoacidosis (HP:0001993)2.21129755
71Molar tooth sign on MRI (HP:0002419)2.20167045
72Abnormality of midbrain morphology (HP:0002418)2.20167045
73Progressive inability to walk (HP:0002505)2.19842329
74Hypothermia (HP:0002045)2.19191644
75Congenital stationary night blindness (HP:0007642)2.17701626
76Mutism (HP:0002300)2.16223633
77Polyphagia (HP:0002591)2.15968815
78Abnormality of the renal medulla (HP:0100957)2.14649855
79Protruding tongue (HP:0010808)2.12841271
80Urinary urgency (HP:0000012)2.12252146
81Degeneration of the lateral corticospinal tracts (HP:0002314)2.11642060
82Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.11642060
83Cystic liver disease (HP:0006706)2.10539374
84Widely spaced teeth (HP:0000687)2.09162126
85Impaired vibratory sensation (HP:0002495)2.08814526
86Bony spicule pigmentary retinopathy (HP:0007737)2.07809204
87Blue irides (HP:0000635)2.07336815
88Nephrogenic diabetes insipidus (HP:0009806)2.06311129
89Postural tremor (HP:0002174)2.05862080
90Torticollis (HP:0000473)2.05689173
91Gait ataxia (HP:0002066)2.04845332
92Neuroendocrine neoplasm (HP:0100634)2.00592774
93Central scotoma (HP:0000603)1.99761984
94Psychosis (HP:0000709)1.99507328
95Abnormality of saccadic eye movements (HP:0000570)1.97597125
96Genital tract atresia (HP:0001827)1.97450439
97Neurofibrillary tangles (HP:0002185)1.97101402
98Focal dystonia (HP:0004373)1.94709858
99Cerebral inclusion bodies (HP:0100314)1.94297847
100Generalized myoclonic seizures (HP:0002123)1.93784993
101Abnormal EKG (HP:0003115)1.93761789
102Fetal akinesia sequence (HP:0001989)1.92048631
103Prolonged QT interval (HP:0001657)1.92042252
104Neuronal loss in central nervous system (HP:0002529)1.91672580
105Abnormality of the corticospinal tract (HP:0002492)1.91071065
106Vaginal atresia (HP:0000148)1.89066602
107Congenital sensorineural hearing impairment (HP:0008527)1.87415206
108Fair hair (HP:0002286)1.86641406
109Clonus (HP:0002169)1.84981688
110Lower limb muscle weakness (HP:0007340)1.83385596
111Annular pancreas (HP:0001734)1.83302574
112Tetraplegia (HP:0002445)1.82667074
113Poor coordination (HP:0002370)1.82620130
114Gait imbalance (HP:0002141)1.82438628
115Bundle branch block (HP:0011710)1.81441240
116Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.81134633
117Limb ataxia (HP:0002070)1.80021077
118Incomplete penetrance (HP:0003829)1.78820524
119Hypomagnesemia (HP:0002917)1.78513032
120Abnormality of macular pigmentation (HP:0008002)1.78325585
121Limb dystonia (HP:0002451)1.77886348
122Type II lissencephaly (HP:0007260)1.77824304
123Resting tremor (HP:0002322)1.76019098
124Insidious onset (HP:0003587)1.75577380
125Termporal pattern (HP:0011008)1.75577380
126Generalized hypopigmentation of hair (HP:0011358)1.75500792
127Failure to thrive in infancy (HP:0001531)1.75269282
128Megalencephaly (HP:0001355)1.74997907
129Abnormality of salivation (HP:0100755)1.74049983
130Inability to walk (HP:0002540)1.73611283
131Abnormality of calcium-phosphate metabolism (HP:0100530)1.73242875
132Neoplasm of the heart (HP:0100544)1.72370602
133Intestinal atresia (HP:0011100)1.72082971
134Tubulointerstitial nephritis (HP:0001970)1.72014077
135Decreased circulating renin level (HP:0003351)1.71791884
136Increased circulating renin level (HP:0000848)1.71068212
137Rigidity (HP:0002063)1.71011321
138Aplasia/Hypoplasia of the tibia (HP:0005772)1.70651836
139Short foot (HP:0001773)1.70602972
140Specific learning disability (HP:0001328)1.70547649
141Tubular atrophy (HP:0000092)1.70301540
142Paraplegia (HP:0010550)1.69818600
143Abolished electroretinogram (ERG) (HP:0000550)1.69219134
144Syncope (HP:0001279)1.69183350

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK35.23714329
2EPHA43.83113812
3MAP3K93.40687551
4MAP3K43.12809838
5MAP2K72.58006926
6MINK12.38064993
7DAPK22.20901988
8PRKD32.14515892
9RIPK42.13387937
10TNIK2.08850431
11PAK62.05266136
12NTRK22.04955513
13CASK2.03092075
14MAP2K42.02825434
15MAP3K121.96043073
16MARK11.94974829
17CAMKK21.94519015
18CAMKK11.92225173
19NTRK11.85576714
20ACVR1B1.84148543
21KSR21.73846685
22STK381.64472796
23ADRBK21.62303853
24BMPR1B1.60999216
25PRPF4B1.58616376
26PNCK1.50180145
27FGFR21.47939401
28DAPK11.46126696
29CDK51.45689656
30GRK51.37228435
31CDK191.36800651
32MAP3K21.33724708
33MAPK131.27799861
34KSR11.25802048
35PRKCG1.24313918
36INSRR1.23031476
37PLK21.20737238
38UHMK11.19012269
39FES1.17470184
40SGK21.15016570
41WNK11.14052687
42SGK2231.13797071
43SGK4941.13797071
44MAP4K21.10092714
45CAMK2A1.06496826
46PRKCH1.05785146
47SIK21.05335519
48MAP3K131.04751666
49STK391.03587798
50GRK11.02506015
51ARAF0.98682392
52CAMK2B0.97909246
53CDC42BPA0.97261249
54CAMK10.96576991
55TAOK30.95475936
56STK38L0.94200517
57BMPR20.93864980
58SGK30.93378233
59PINK10.93120259
60AKT30.92853087
61TYRO30.92383162
62STK110.90597490
63SGK10.84228144
64OXSR10.79853082
65CAMK1D0.78795433
66RET0.78118886
67MAP3K10.77331267
68CAMK1G0.73532032
69NEK60.73065980
70CAMK2D0.72783947
71CDK180.72164526
72WNK30.72047647
73TNK20.71593391
74CDK150.70803930
75TAOK10.70625884
76PAK30.70466095
77MAP2K60.70430244
78MKNK20.70119663
79CDK140.65158792
80PRKAA10.64520726
81MARK20.63772181
82DYRK1A0.63331875
83CSNK1G10.62895094
84PDK10.61777061
85ALK0.61174890
86SCYL20.60094992
87CDK11A0.59863548
88PHKG20.59027252
89PHKG10.59027252
90RPS6KA30.58825962
91PDPK10.58673649
92PTK2B0.57664078
93PKN10.57082638
94CAMK2G0.56801824
95ADRBK10.56432762
96RIPK10.55990332
97CDK30.55550276
98CAMK40.55257685
99PRKCE0.54341251
100PRKAA20.53427720
101HIPK20.52383478
102CSNK1A1L0.52161587
103MAPK100.51997397
104RAF10.50240866
105FER0.48350817
106CSNK1G20.47212319
107CSNK1G30.46680179
108CSNK1D0.46208852
109LMTK20.42943159
110PRKD20.40480669
111MAP3K70.40110115
112PRKCB0.39241022
113FYN0.38649640
114PRKCZ0.38177942
115ERBB20.37247849
116WNK40.36072945
117PRKCA0.36008191
118PRKACA0.35799130
119PRKG10.35416470
120BRAF0.34314999
121PIK3CA0.34214816
122PRKACB0.33806946
123CSNK1A10.33761538
124NUAK10.31941029
125FRK0.30270472
126GSK3B0.29645876
127TRPM70.29346839

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.99738583
2Synaptic vesicle cycle_Homo sapiens_hsa047213.21435780
3GABAergic synapse_Homo sapiens_hsa047272.81935338
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.79885646
5Long-term potentiation_Homo sapiens_hsa047202.75690317
6Circadian entrainment_Homo sapiens_hsa047132.75158914
7Glutamatergic synapse_Homo sapiens_hsa047242.68357254
8Amphetamine addiction_Homo sapiens_hsa050312.58441689
9Morphine addiction_Homo sapiens_hsa050322.55682141
10Insulin secretion_Homo sapiens_hsa049112.48448782
11Olfactory transduction_Homo sapiens_hsa047402.45928039
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.23620305
13Salivary secretion_Homo sapiens_hsa049702.20387439
14Dopaminergic synapse_Homo sapiens_hsa047282.14876692
15Taste transduction_Homo sapiens_hsa047422.08013975
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.90276313
17Butanoate metabolism_Homo sapiens_hsa006501.89913092
18Cholinergic synapse_Homo sapiens_hsa047251.85698651
19Gastric acid secretion_Homo sapiens_hsa049711.83756839
20Long-term depression_Homo sapiens_hsa047301.80300007
21Cocaine addiction_Homo sapiens_hsa050301.74964737
22Serotonergic synapse_Homo sapiens_hsa047261.71745915
23Renin secretion_Homo sapiens_hsa049241.70490002
24Calcium signaling pathway_Homo sapiens_hsa040201.61980947
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.59070834
26Oxytocin signaling pathway_Homo sapiens_hsa049211.56744867
27Type II diabetes mellitus_Homo sapiens_hsa049301.56560635
28ABC transporters_Homo sapiens_hsa020101.42825020
29Collecting duct acid secretion_Homo sapiens_hsa049661.39797485
30GnRH signaling pathway_Homo sapiens_hsa049121.38889440
31Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.36633957
32Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.36397019
33Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.35833148
34cAMP signaling pathway_Homo sapiens_hsa040241.33005890
35Phosphatidylinositol signaling system_Homo sapiens_hsa040701.30143564
36Phototransduction_Homo sapiens_hsa047441.28217942
37Gap junction_Homo sapiens_hsa045401.23273721
38Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.22497540
39Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.16748840
40Pancreatic secretion_Homo sapiens_hsa049721.14789443
41Estrogen signaling pathway_Homo sapiens_hsa049151.14520750
42Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.11435361
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.09661189
44Ether lipid metabolism_Homo sapiens_hsa005651.05086020
45Tryptophan metabolism_Homo sapiens_hsa003801.03865677
46Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.03189349
47Vibrio cholerae infection_Homo sapiens_hsa051101.01626194
48Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.97885965
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.97752362
50Thyroid hormone synthesis_Homo sapiens_hsa049180.97059897
51Cardiac muscle contraction_Homo sapiens_hsa042600.91763784
52Melanogenesis_Homo sapiens_hsa049160.90915313
53Glioma_Homo sapiens_hsa052140.89911942
54Carbohydrate digestion and absorption_Homo sapiens_hsa049730.86879983
55ErbB signaling pathway_Homo sapiens_hsa040120.86771450
56Linoleic acid metabolism_Homo sapiens_hsa005910.85106246
57Nitrogen metabolism_Homo sapiens_hsa009100.83312695
58beta-Alanine metabolism_Homo sapiens_hsa004100.82885672
59Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.82207775
60Circadian rhythm_Homo sapiens_hsa047100.81462977
61Type I diabetes mellitus_Homo sapiens_hsa049400.81363473
62Dorso-ventral axis formation_Homo sapiens_hsa043200.81210580
63alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.80965961
64Primary bile acid biosynthesis_Homo sapiens_hsa001200.80561564
65Phospholipase D signaling pathway_Homo sapiens_hsa040720.77653444
66Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.76999450
67Axon guidance_Homo sapiens_hsa043600.75027190
68Oocyte meiosis_Homo sapiens_hsa041140.74085372
69Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.73732970
70Dilated cardiomyopathy_Homo sapiens_hsa054140.73108119
71Inositol phosphate metabolism_Homo sapiens_hsa005620.68214832
72Regulation of autophagy_Homo sapiens_hsa041400.66979067
73MAPK signaling pathway_Homo sapiens_hsa040100.66905585
74Glucagon signaling pathway_Homo sapiens_hsa049220.66598686
75Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.66483149
76Choline metabolism in cancer_Homo sapiens_hsa052310.65893259
77Vitamin B6 metabolism_Homo sapiens_hsa007500.65222336
78Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.65145036
79Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.64955150
80Histidine metabolism_Homo sapiens_hsa003400.63718075
81Sphingolipid metabolism_Homo sapiens_hsa006000.62824719
82Fatty acid biosynthesis_Homo sapiens_hsa000610.62307364
83Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.57196393
84Maturity onset diabetes of the young_Homo sapiens_hsa049500.56196981
85Thyroid hormone signaling pathway_Homo sapiens_hsa049190.53328740
86mTOR signaling pathway_Homo sapiens_hsa041500.53164994
87Bile secretion_Homo sapiens_hsa049760.52656400
88Glycerolipid metabolism_Homo sapiens_hsa005610.49171992
89Neurotrophin signaling pathway_Homo sapiens_hsa047220.48743733
90Propanoate metabolism_Homo sapiens_hsa006400.48665283
91Lysine degradation_Homo sapiens_hsa003100.48039410
92Alcoholism_Homo sapiens_hsa050340.46414099
93Longevity regulating pathway - mammal_Homo sapiens_hsa042110.45812160
94Ras signaling pathway_Homo sapiens_hsa040140.45687169
95Steroid hormone biosynthesis_Homo sapiens_hsa001400.44357831
96VEGF signaling pathway_Homo sapiens_hsa043700.44196871
97Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.44174405
98Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.40401900
99Peroxisome_Homo sapiens_hsa041460.40213165
100Ovarian steroidogenesis_Homo sapiens_hsa049130.39845403
101Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.39589346
102Rap1 signaling pathway_Homo sapiens_hsa040150.39442887
103Selenocompound metabolism_Homo sapiens_hsa004500.38376094
104Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.38305071
105Sphingolipid signaling pathway_Homo sapiens_hsa040710.37811238
106Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.37476524
107Prion diseases_Homo sapiens_hsa050200.37469570
108Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.36708059
109Insulin signaling pathway_Homo sapiens_hsa049100.34300825
110Wnt signaling pathway_Homo sapiens_hsa043100.33899727
111SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33136391
112Endocytosis_Homo sapiens_hsa041440.32835065
113Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.32610643
114Glycerophospholipid metabolism_Homo sapiens_hsa005640.32035796
115Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.31052070
116African trypanosomiasis_Homo sapiens_hsa051430.29441397
117Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.28975615
118Alzheimers disease_Homo sapiens_hsa050100.28700134
119Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.25661121
120Retinol metabolism_Homo sapiens_hsa008300.25500395
121Chemokine signaling pathway_Homo sapiens_hsa040620.25499140
122Mineral absorption_Homo sapiens_hsa049780.24172231
123Non-small cell lung cancer_Homo sapiens_hsa052230.23863774
124Endometrial cancer_Homo sapiens_hsa052130.23269210
125Renal cell carcinoma_Homo sapiens_hsa052110.22332763

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