ASIC1

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





Description: This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1locomotory exploration behavior (GO:0035641)6.04969591
2synaptic vesicle maturation (GO:0016188)5.92035898
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.90227180
4vocalization behavior (GO:0071625)5.52417807
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.48692380
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.46457309
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.34317421
8synaptic vesicle exocytosis (GO:0016079)5.01261314
9neuron cell-cell adhesion (GO:0007158)4.97389632
10regulation of synaptic vesicle exocytosis (GO:2000300)4.88675622
11regulation of glutamate receptor signaling pathway (GO:1900449)4.88001173
12layer formation in cerebral cortex (GO:0021819)4.71396570
13central nervous system myelination (GO:0022010)4.68042347
14axon ensheathment in central nervous system (GO:0032291)4.68042347
15exploration behavior (GO:0035640)4.61093455
16glutamate secretion (GO:0014047)4.60627341
17protein localization to synapse (GO:0035418)4.59401207
18neurotransmitter secretion (GO:0007269)4.58856430
19synaptic vesicle docking involved in exocytosis (GO:0016081)4.54244124
20regulation of synapse structural plasticity (GO:0051823)4.52196496
21pyrimidine nucleobase catabolic process (GO:0006208)4.50696355
22establishment of mitochondrion localization (GO:0051654)4.49050874
23gamma-aminobutyric acid transport (GO:0015812)4.39704329
24ionotropic glutamate receptor signaling pathway (GO:0035235)4.35832038
25regulation of synaptic vesicle transport (GO:1902803)4.27505859
26mitochondrion transport along microtubule (GO:0047497)4.24424834
27establishment of mitochondrion localization, microtubule-mediated (GO:0034643)4.24424834
28neuronal action potential propagation (GO:0019227)4.20739613
29regulation of neuronal synaptic plasticity (GO:0048168)4.18655349
30regulation of long-term neuronal synaptic plasticity (GO:0048169)4.16952595
31dendritic spine morphogenesis (GO:0060997)4.13488598
32neurotransmitter-gated ion channel clustering (GO:0072578)4.02439791
33substrate-independent telencephalic tangential migration (GO:0021826)3.98630653
34substrate-independent telencephalic tangential interneuron migration (GO:0021843)3.98630653
35synaptic transmission, glutamatergic (GO:0035249)3.94881209
36postsynaptic membrane organization (GO:0001941)3.88321670
37positive regulation of synaptic transmission, GABAergic (GO:0032230)3.86265572
38proline transport (GO:0015824)3.82845660
39regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.80564959
40glutamate receptor signaling pathway (GO:0007215)3.80459808
41regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.79127415
42membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.78647756
43prepulse inhibition (GO:0060134)3.77613876
44neuron-neuron synaptic transmission (GO:0007270)3.77060151
45activation of protein kinase A activity (GO:0034199)3.70528382
46auditory behavior (GO:0031223)3.70194108
47neuromuscular process controlling balance (GO:0050885)3.69524754
48positive regulation of synapse maturation (GO:0090129)3.68834851
49positive regulation of membrane potential (GO:0045838)3.67850311
50long-term memory (GO:0007616)3.66439988
51neuron recognition (GO:0008038)3.65885892
52neurotransmitter transport (GO:0006836)3.60096527
53dendrite morphogenesis (GO:0048813)3.56681886
54cerebellar Purkinje cell differentiation (GO:0021702)3.55412855
55regulation of excitatory postsynaptic membrane potential (GO:0060079)3.54895656
56transmission of nerve impulse (GO:0019226)3.51707012
57positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.50483974
58cell migration in hindbrain (GO:0021535)3.49831889
59nucleobase catabolic process (GO:0046113)3.49533128
60cellular potassium ion homeostasis (GO:0030007)3.49209536
61neuromuscular process controlling posture (GO:0050884)3.48664059
62axonal fasciculation (GO:0007413)3.48600598
63response to auditory stimulus (GO:0010996)3.44190244
64regulation of dendritic spine morphogenesis (GO:0061001)3.42617916
65sodium ion export (GO:0071436)3.41796004
66glycine transport (GO:0015816)3.39969910
67regulation of neurotransmitter levels (GO:0001505)3.38552634
68response to pheromone (GO:0019236)3.38235520
69regulation of postsynaptic membrane potential (GO:0060078)3.38215149
70regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.36657352
71positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.36586782
72neuronal ion channel clustering (GO:0045161)3.34521944
73regulation of synaptic transmission, glutamatergic (GO:0051966)3.31783410
74presynaptic membrane assembly (GO:0097105)3.31131615
75cerebellar Purkinje cell layer development (GO:0021680)3.29831109
76regulation of synaptic plasticity (GO:0048167)3.28417155
77potassium ion homeostasis (GO:0055075)3.26728172
78presynaptic membrane organization (GO:0097090)3.26701030
79axon extension (GO:0048675)3.26581938
80cell communication by electrical coupling (GO:0010644)3.24742370
81cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.21454280
82potassium ion import (GO:0010107)3.15175710
83synapse assembly (GO:0007416)3.15078319
84membrane hyperpolarization (GO:0060081)3.14256515
85neurofilament cytoskeleton organization (GO:0060052)3.12241745
86membrane depolarization during action potential (GO:0086010)3.10430619
87* regulation of neurotransmitter secretion (GO:0046928)3.09714554
88synaptic vesicle endocytosis (GO:0048488)3.09631542
89cerebellar granule cell differentiation (GO:0021707)3.09567544
90dopamine receptor signaling pathway (GO:0007212)3.06565639
91negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.05961062
92neuromuscular process (GO:0050905)3.05453859
93vesicle transport along microtubule (GO:0047496)3.04241934
94long-term synaptic potentiation (GO:0060291)3.04141963
95adult walking behavior (GO:0007628)3.03616748
96mechanosensory behavior (GO:0007638)3.02270491
97membrane depolarization (GO:0051899)3.01853849
98regulation of vesicle fusion (GO:0031338)3.00640233
99social behavior (GO:0035176)3.00617631
100intraspecies interaction between organisms (GO:0051703)3.00617631
101positive regulation of neurotransmitter transport (GO:0051590)3.00490101
102positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.99606054
103adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.97606962
104regulation of synaptic transmission, GABAergic (GO:0032228)2.95950887
105striatum development (GO:0021756)2.95582676
106positive regulation of synapse assembly (GO:0051965)2.95292741
107* regulation of neurotransmitter transport (GO:0051588)2.94246462
108negative regulation of synaptic transmission, GABAergic (GO:0032229)2.93293998
109positive regulation of neurotransmitter secretion (GO:0001956)2.92213624
110G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.91728508
111* learning (GO:0007612)2.91701467
112negative regulation of axonogenesis (GO:0050771)2.91596228
113G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.91466200
114regulation of respiratory system process (GO:0044065)2.90848684
115synapse organization (GO:0050808)2.90562624
116positive regulation of dendritic spine development (GO:0060999)2.90471944
117cell differentiation in hindbrain (GO:0021533)2.90326984
118positive regulation of dendritic spine morphogenesis (GO:0061003)2.88605743
119neuromuscular synaptic transmission (GO:0007274)2.87610858
120L-amino acid import (GO:0043092)2.86727780
121mating behavior (GO:0007617)2.84074660
122regulation of synapse maturation (GO:0090128)2.82387817
123neuron projection extension (GO:1990138)2.81591255
124negative regulation of axon extension (GO:0030517)2.80255269
125regulation of axonogenesis (GO:0050770)2.77899619
126cerebral cortex radially oriented cell migration (GO:0021799)2.77421956
127membrane repolarization (GO:0086009)2.76149872
128behavioral response to nicotine (GO:0035095)2.76027633
129forebrain neuron differentiation (GO:0021879)2.74458540
130amino acid import (GO:0043090)2.73375910
131central nervous system projection neuron axonogenesis (GO:0021952)2.73194938
132regulation of voltage-gated calcium channel activity (GO:1901385)2.66337561

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.95705815
2SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.10379792
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.06631197
4GBX2_23144817_ChIP-Seq_PC3_Human3.06084528
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.00365085
6REST_21632747_ChIP-Seq_MESCs_Mouse2.87505392
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.79604816
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.79604816
9RARB_27405468_Chip-Seq_BRAIN_Mouse2.77379348
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.73874407
11DROSHA_22980978_ChIP-Seq_HELA_Human2.61808645
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.61331290
13SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.57222679
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.56251959
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.52864985
16MTF2_20144788_ChIP-Seq_MESCs_Mouse2.52184784
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.47935112
18CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.43581410
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.42655236
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.39369431
21TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.37228114
22REST_18959480_ChIP-ChIP_MESCs_Mouse2.37197179
23MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.34776896
24EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.33828660
25NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.33440581
26EED_16625203_ChIP-ChIP_MESCs_Mouse2.27977358
27RNF2_27304074_Chip-Seq_ESCs_Mouse2.25096517
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.11763693
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.11674638
30IKZF1_21737484_ChIP-ChIP_HCT116_Human2.10344231
31ERG_21242973_ChIP-ChIP_JURKAT_Human1.76999817
32AR_21572438_ChIP-Seq_LNCaP_Human1.76536127
33THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.67249529
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.58526397
35ZNF274_21170338_ChIP-Seq_K562_Hela1.51617098
36GATA1_26923725_Chip-Seq_HPCs_Mouse1.51001034
37RING1B_27294783_Chip-Seq_ESCs_Mouse1.45948838
38RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.43582251
39ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.43120565
40ZFP281_18757296_ChIP-ChIP_E14_Mouse1.42919666
41EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.41617756
42SMAD4_21799915_ChIP-Seq_A2780_Human1.41068067
43SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.40857960
44KDM2B_26808549_Chip-Seq_K562_Human1.39799788
45DNAJC2_21179169_ChIP-ChIP_NT2_Human1.36839494
46PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.34430834
47PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.33129714
48CTBP1_25329375_ChIP-Seq_LNCAP_Human1.30515002
49TAF15_26573619_Chip-Seq_HEK293_Human1.29555595
50RING1B_27294783_Chip-Seq_NPCs_Mouse1.26136064
51SOX2_21211035_ChIP-Seq_LN229_Gbm1.26022402
52AR_19668381_ChIP-Seq_PC3_Human1.26013755
53RBPJ_22232070_ChIP-Seq_NCS_Mouse1.23543262
54EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.22621200
55CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.21053577
56SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.20982110
57CBX2_27304074_Chip-Seq_ESCs_Mouse1.20822748
58WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.20247532
59RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.20182102
60WT1_25993318_ChIP-Seq_PODOCYTE_Human1.19752193
61LXR_22292898_ChIP-Seq_THP-1_Human1.18180164
62NR3C1_23031785_ChIP-Seq_PC12_Mouse1.17408499
63TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.17231093
64BMI1_23680149_ChIP-Seq_NPCS_Mouse1.12683812
65SMAD3_21741376_ChIP-Seq_EPCs_Human1.11375215
66TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.09611821
67IGF1R_20145208_ChIP-Seq_DFB_Human1.09415511
68RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.09270557
69STAT3_23295773_ChIP-Seq_U87_Human1.08608917
70ZFP281_27345836_Chip-Seq_ESCs_Mouse1.08046612
71SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.07262761
72TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04042523
73RNF2_27304074_Chip-Seq_NSC_Mouse1.02971028
74YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02412346
75P53_22127205_ChIP-Seq_FIBROBLAST_Human1.02202677
76TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02193720
77AR_25329375_ChIP-Seq_VCAP_Human1.00712196
78ZFP57_27257070_Chip-Seq_ESCs_Mouse0.99802208
79ARNT_22903824_ChIP-Seq_MCF-7_Human0.99774714
80SMAD_19615063_ChIP-ChIP_OVARY_Human0.99498614
81TOP2B_26459242_ChIP-Seq_MCF-7_Human0.99426315
82AHR_22903824_ChIP-Seq_MCF-7_Human0.99294446
83P300_19829295_ChIP-Seq_ESCs_Human0.98752867
84OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.98254537
85SMAD3_21741376_ChIP-Seq_ESCs_Human0.97550891
86MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.96954578
87ZNF217_24962896_ChIP-Seq_MCF-7_Human0.96755907
88GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.96387784
89TCF4_23295773_ChIP-Seq_U87_Human0.95720324
90ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.94723087
91TET1_21490601_ChIP-Seq_MESCs_Mouse0.94490778
92DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.93133960
93SMC4_20622854_ChIP-Seq_HELA_Human0.93091271
94SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.92320482
95CTCF_27219007_Chip-Seq_Bcells_Human0.92004778
96OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.91686753
97SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.90847222
98SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.90749916
99VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.89985605
100KDM2B_26808549_Chip-Seq_JURKAT_Human0.89294321
101MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.89142497
102SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.88754114
103SMAD4_21741376_ChIP-Seq_HESCs_Human0.88264532
104RUNX1_26923725_Chip-Seq_HPCs_Mouse0.87883882
105PIAS1_25552417_ChIP-Seq_VCAP_Human0.87512189
106SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.87451794
107MNX1_26342078_ChIP-Seq_MIN6-4N_Mouse0.87396465
108TP53_20018659_ChIP-ChIP_R1E_Mouse0.86282206
109TRIM28_21343339_ChIP-Seq_HEK293_Human0.85953475
110RUNX2_22187159_ChIP-Seq_PCA_Human0.85792319
111HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.85650533
112NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.85312850
113CREB1_26743006_Chip-Seq_LNCaP_Human0.85193769
114TET1_21451524_ChIP-Seq_MESCs_Mouse0.84814118
115NR3C1_21868756_ChIP-Seq_MCF10A_Human0.84806619
116SOX3_22085726_ChIP-Seq_NPCs_Mouse0.84327685
117TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83831469
118UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.82987162
119CDX2_19796622_ChIP-Seq_MESCs_Mouse0.82229638
120KDM2B_26808549_Chip-Seq_DND41_Human0.82212025
121ISL1_27105846_Chip-Seq_CPCs_Mouse0.81624825
122OCT4_19829295_ChIP-Seq_ESCs_Human0.81208161
123TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79879650
124POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.79879650
125TP53_23651856_ChIP-Seq_MEFs_Mouse0.79858443
126SRY_22984422_ChIP-ChIP_TESTIS_Rat0.79771111
127CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79146323
128PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.78622928
129KLF4_19829295_ChIP-Seq_ESCs_Human0.78538599
130P68_20966046_ChIP-Seq_HELA_Human0.77929708
131KDM2B_26808549_Chip-Seq_SUP-B15_Human0.77863374
132SMAD3_21741376_ChIP-Seq_HESCs_Human0.77764386
133DPY_21335234_ChIP-Seq_ESCs_Mouse0.75343692
134KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.75182930

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.00951658
2MP0003880_abnormal_central_pattern4.10026353
3MP0003635_abnormal_synaptic_transmissio4.03581184
4MP0005423_abnormal_somatic_nervous3.60185388
5MP0004270_analgesia3.47708361
6MP0002822_catalepsy3.30321197
7MP0009745_abnormal_behavioral_response3.25882323
8MP0002063_abnormal_learning/memory/cond3.22333516
9MP0009046_muscle_twitch3.13142417
10MP0002064_seizures2.98730399
11MP0001968_abnormal_touch/_nociception2.70205206
12MP0002572_abnormal_emotion/affect_behav2.67293844
13MP0002734_abnormal_mechanical_nocicepti2.56412326
14MP0001486_abnormal_startle_reflex2.53022330
15MP0002272_abnormal_nervous_system2.45861358
16MP0002909_abnormal_adrenal_gland2.20421558
17MP0002733_abnormal_thermal_nociception2.14260464
18MP0003123_paternal_imprinting2.11551705
19MP0009780_abnormal_chondrocyte_physiolo2.10436450
20MP0001501_abnormal_sleep_pattern2.07615327
21MP0002184_abnormal_innervation2.02994251
22MP0002735_abnormal_chemical_nociception2.01673256
23MP0004858_abnormal_nervous_system2.00368349
24MP0000778_abnormal_nervous_system1.97536615
25MP0002736_abnormal_nociception_after1.96979982
26MP0001970_abnormal_pain_threshold1.96561306
27MP0001440_abnormal_grooming_behavior1.96061712
28MP0002067_abnormal_sensory_capabilities1.94831922
29MP0008569_lethality_at_weaning1.92941137
30MP0002557_abnormal_social/conspecific_i1.91652579
31MP0004811_abnormal_neuron_physiology1.90448821
32MP0000566_synostosis1.82336983
33MP0005646_abnormal_pituitary_gland1.80008794
34MP0000955_abnormal_spinal_cord1.74723614
35MP0001984_abnormal_olfaction1.73354095
36MP0004924_abnormal_behavior1.73048845
37MP0005386_behavior/neurological_phenoty1.73048845
38MP0005645_abnormal_hypothalamus_physiol1.71913196
39MP0006276_abnormal_autonomic_nervous1.64569920
40MP0003329_amyloid_beta_deposits1.64462999
41MP0003787_abnormal_imprinting1.64016152
42MP0004885_abnormal_endolymph1.56569854
43MP0003122_maternal_imprinting1.49543983
44MP0002882_abnormal_neuron_morphology1.48855856
45MP0002066_abnormal_motor_capabilities/c1.45171512
46MP0003879_abnormal_hair_cell1.39880640
47MP0003283_abnormal_digestive_organ1.35663778
48MP0001529_abnormal_vocalization1.34517913
49MP0009379_abnormal_foot_pigmentation1.30341585
50MP0001502_abnormal_circadian_rhythm1.29871644
51MP0004142_abnormal_muscle_tone1.28789263
52MP0000534_abnormal_ureter_morphology1.27425994
53MP0003633_abnormal_nervous_system1.24391767
54MP0002152_abnormal_brain_morphology1.22560923
55MP0005409_darkened_coat_color1.22258516
56MP0000569_abnormal_digit_pigmentation1.19449243
57MP0008961_abnormal_basal_metabolism1.18824422
58MP0002234_abnormal_pharynx_morphology1.15797589
59MP0006292_abnormal_olfactory_placode1.13885538
60MP0003942_abnormal_urinary_system1.11860071
61MP0000013_abnormal_adipose_tissue1.09389764
62MP0009053_abnormal_anal_canal1.07271587
63MP0003631_nervous_system_phenotype1.05095159
64MP0003938_abnormal_ear_development1.00644732
65MP0000631_abnormal_neuroendocrine_gland1.00415365
66MP0001188_hyperpigmentation1.00200346
67MP0004742_abnormal_vestibular_system1.00124593
68MP0002069_abnormal_eating/drinking_beha0.98533316
69MP0002249_abnormal_larynx_morphology0.98253818
70MP0000537_abnormal_urethra_morphology0.97653735
71MP0002229_neurodegeneration0.94816250
72MP0010030_abnormal_orbit_morphology0.94182309
73MP0000026_abnormal_inner_ear0.93308565
74MP0005499_abnormal_olfactory_system0.92288415
75MP0005394_taste/olfaction_phenotype0.92288415
76MP0003634_abnormal_glial_cell0.92148140
77MP0000751_myopathy0.91448769
78MP0008789_abnormal_olfactory_epithelium0.90779264
79MP0004130_abnormal_muscle_cell0.88988153
80MP0001177_atelectasis0.88627692
81MP0001905_abnormal_dopamine_level0.86789108
82MP0001299_abnormal_eye_distance/0.86431597
83MP0002638_abnormal_pupillary_reflex0.85584364
84MP0004145_abnormal_muscle_electrophysio0.84831598
85MP0004085_abnormal_heartbeat0.84117371
86MP0000579_abnormal_nail_morphology0.83102511
87MP0000049_abnormal_middle_ear0.82936159
88MP0010386_abnormal_urinary_bladder0.81656414
89MP0002752_abnormal_somatic_nervous0.80540514
90MP0004133_heterotaxia0.79615162
91MP0003137_abnormal_impulse_conducting0.78572961
92MP0008872_abnormal_physiological_respon0.78338419
93MP0003119_abnormal_digestive_system0.78036997
94MP0003632_abnormal_nervous_system0.77469173
95MP0002081_perinatal_lethality0.77358043
96MP0002233_abnormal_nose_morphology0.76642582
97MP0003690_abnormal_glial_cell0.75906438
98MP0003385_abnormal_body_wall0.75799663
99MP0002116_abnormal_craniofacial_bone0.75608670
100MP0001346_abnormal_lacrimal_gland0.75518367
101MP0001963_abnormal_hearing_physiology0.74897442
102MP0003172_abnormal_lysosome_physiology0.74586955
103MP0004043_abnormal_pH_regulation0.74493064
104MP0002653_abnormal_ependyma_morphology0.74329350
105MP0003861_abnormal_nervous_system0.73188566
106MP0004233_abnormal_muscle_weight0.72865249
107MP0005623_abnormal_meninges_morphology0.72088445
108MP0005535_abnormal_body_temperature0.71880416
109MP0008874_decreased_physiological_sensi0.70979383
110MP0003121_genomic_imprinting0.69820521
111MP0005167_abnormal_blood-brain_barrier0.69608025
112MP0009250_abnormal_appendicular_skeleto0.68622073
113MP0005187_abnormal_penis_morphology0.68171467
114MP0000920_abnormal_myelination0.67635757
115MP0001485_abnormal_pinna_reflex0.66506333
116MP0001348_abnormal_lacrimal_gland0.64822223
117MP0005551_abnormal_eye_electrophysiolog0.64184947
118MP0001943_abnormal_respiration0.62714437
119MP0003075_altered_response_to0.62158512
120MP0010769_abnormal_survival0.60744437
121MP0002082_postnatal_lethality0.58714258
122MP0010770_preweaning_lethality0.58714258
123MP0000604_amyloidosis0.58458293
124MP0006072_abnormal_retinal_apoptosis0.57783933
125MP0010768_mortality/aging0.56760234
126MP0002090_abnormal_vision0.55816597
127MP0002751_abnormal_autonomic_nervous0.53467125

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.42668701
2Myokymia (HP:0002411)6.30839465
3Focal seizures (HP:0007359)5.28377065
4Visual hallucinations (HP:0002367)4.95341885
5Epileptic encephalopathy (HP:0200134)4.21143537
6Action tremor (HP:0002345)4.11029135
7Progressive cerebellar ataxia (HP:0002073)3.86396660
8Febrile seizures (HP:0002373)3.80634410
9Atonic seizures (HP:0010819)3.80499177
10Supranuclear gaze palsy (HP:0000605)3.59818614
11Ankle clonus (HP:0011448)3.58875693
12Absence seizures (HP:0002121)3.48232205
13Poor eye contact (HP:0000817)3.42709008
14Generalized tonic-clonic seizures (HP:0002069)3.41575486
15Depression (HP:0000716)3.28167247
16Broad-based gait (HP:0002136)3.26718027
17Dialeptic seizures (HP:0011146)3.23451102
18Anomalous pulmonary venous return (HP:0010772)3.17382890
19Mutism (HP:0002300)3.16801496
20Impaired social interactions (HP:0000735)3.15201517
21Abnormal social behavior (HP:0012433)3.15201517
22Papilledema (HP:0001085)3.06436213
23Urinary bladder sphincter dysfunction (HP:0002839)2.99761066
24Abnormal eating behavior (HP:0100738)2.95857977
25Impaired vibration sensation in the lower limbs (HP:0002166)2.93890231
26Dysdiadochokinesis (HP:0002075)2.89798528
27Gaze-evoked nystagmus (HP:0000640)2.89272604
28Limb dystonia (HP:0002451)2.88954136
29Anxiety (HP:0000739)2.88196929
30Truncal ataxia (HP:0002078)2.88107302
31Genetic anticipation (HP:0003743)2.87942317
32Torticollis (HP:0000473)2.85921843
33Hemiparesis (HP:0001269)2.75906038
34Abnormality of the pulmonary veins (HP:0011718)2.75243152
35Agitation (HP:0000713)2.74848924
36Abnormality of the lower motor neuron (HP:0002366)2.74729009
37Megalencephaly (HP:0001355)2.70219759
38Hepatoblastoma (HP:0002884)2.65520767
39Amblyopia (HP:0000646)2.65238456
40Urinary urgency (HP:0000012)2.62965860
41Drooling (HP:0002307)2.62202949
42Excessive salivation (HP:0003781)2.62202949
43Postural instability (HP:0002172)2.57332726
44Focal dystonia (HP:0004373)2.54725811
45Spastic gait (HP:0002064)2.52843520
46Dysmetria (HP:0001310)2.52741716
47Hyperventilation (HP:0002883)2.51541555
48Hemiplegia (HP:0002301)2.47978867
49Pheochromocytoma (HP:0002666)2.47738929
50Impaired smooth pursuit (HP:0007772)2.46683215
51Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.45667349
52Turricephaly (HP:0000262)2.42148606
53Insomnia (HP:0100785)2.39861581
54Progressive inability to walk (HP:0002505)2.37962748
55Amyotrophic lateral sclerosis (HP:0007354)2.37860748
56Rib fusion (HP:0000902)2.37201326
57Craniofacial dystonia (HP:0012179)2.35908046
58Stereotypic behavior (HP:0000733)2.35565805
59Failure to thrive in infancy (HP:0001531)2.35533306
60Scanning speech (HP:0002168)2.34382215
61Annular pancreas (HP:0001734)2.30903561
62Intention tremor (HP:0002080)2.29714280
63Abnormality of the corticospinal tract (HP:0002492)2.28646834
64Pointed chin (HP:0000307)2.28634470
65Morphological abnormality of the inner ear (HP:0011390)2.27465598
66EEG with generalized epileptiform discharges (HP:0011198)2.26300615
67Termporal pattern (HP:0011008)2.25476057
68Insidious onset (HP:0003587)2.25476057
69Spastic tetraparesis (HP:0001285)2.25401634
70Epileptiform EEG discharges (HP:0011182)2.25261923
71Diplopia (HP:0000651)2.24275090
72Abnormality of binocular vision (HP:0011514)2.24275090
73Bradykinesia (HP:0002067)2.23946418
74Abnormality of the 4th metacarpal (HP:0010012)2.22339278
75Hypsarrhythmia (HP:0002521)2.21760154
76Obstructive sleep apnea (HP:0002870)2.20634802
77Polyphagia (HP:0002591)2.18548946
78Abnormality of ocular smooth pursuit (HP:0000617)2.18524620
79Truncus arteriosus (HP:0001660)2.16012880
80Ventricular fibrillation (HP:0001663)2.15098296
81Aplasia involving bones of the upper limbs (HP:0009823)2.14179162
82Aplasia of the phalanges of the hand (HP:0009802)2.14179162
83Aplasia involving bones of the extremities (HP:0009825)2.14179162
84Elfin facies (HP:0004428)2.13638373
85Dysmetric saccades (HP:0000641)2.13194401
86Congenital malformation of the right heart (HP:0011723)2.12639946
87Double outlet right ventricle (HP:0001719)2.12639946
88Abnormality of cochlea (HP:0000375)2.10982629
89Peripheral hypomyelination (HP:0007182)2.10929209
90Status epilepticus (HP:0002133)2.06671305
91Abnormality of the aortic arch (HP:0012303)2.05717560
92Overriding aorta (HP:0002623)2.04912574
93Neuroendocrine neoplasm (HP:0100634)2.03504392
94Neurofibrillary tangles (HP:0002185)2.03161363
95Lower limb muscle weakness (HP:0007340)2.01467281
96Fetal akinesia sequence (HP:0001989)2.00062269
97Spinal canal stenosis (HP:0003416)1.98829523
98Resting tremor (HP:0002322)1.98710315
99Clonus (HP:0002169)1.98183680
100Cerebral inclusion bodies (HP:0100314)1.97617944
101Hypoventilation (HP:0002791)1.97304483
102Neoplasm of the peripheral nervous system (HP:0100007)1.95733352
103Apathy (HP:0000741)1.95733263
104Absent speech (HP:0001344)1.95689296
105Neuronal loss in central nervous system (HP:0002529)1.94783455
106Macroorchidism (HP:0000053)1.92831238
107Sleep apnea (HP:0010535)1.92761976
108Hand muscle atrophy (HP:0009130)1.90065622
109Oligodactyly (hands) (HP:0001180)1.87882267
110Akinesia (HP:0002304)1.87289652
111Ankyloglossia (HP:0010296)1.84846172
112Impaired vibratory sensation (HP:0002495)1.84743076
113Lower limb amyotrophy (HP:0007210)1.84264898
114Postural tremor (HP:0002174)1.84200776
115Lower limb asymmetry (HP:0100559)1.83682182
116Neoplasm of the adrenal cortex (HP:0100641)1.82820096
117Hypercortisolism (HP:0001578)1.82710970
118Hyperacusis (HP:0010780)1.81771795
119Cutaneous finger syndactyly (HP:0010554)1.81314306
120Renal duplication (HP:0000075)1.81188825
121Abnormal EKG (HP:0003115)1.81049156
122Neoplasm of the heart (HP:0100544)1.80813221
123Hyperthyroidism (HP:0000836)1.80350725
124Aplasia/Hypoplasia of the brainstem (HP:0007362)1.79846428
125Hypoplasia of the brainstem (HP:0002365)1.79846428
126Aqueductal stenosis (HP:0002410)1.77782934
127Spastic tetraplegia (HP:0002510)1.76236326
128Abnormal pancreas size (HP:0012094)1.74300843
129Pachygyria (HP:0001302)1.73727901
130Short 4th metacarpal (HP:0010044)1.73199010
131Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.73199010
132Hypoplasia of the corpus callosum (HP:0002079)1.71307723
133Megalocornea (HP:0000485)1.67334800
134Preauricular pit (HP:0004467)1.66887128
135Periauricular skin pits (HP:0100277)1.66887128
136Abnormality of the intervertebral disk (HP:0005108)1.66216013
137Shawl scrotum (HP:0000049)1.66190302
138Cutaneous syndactyly (HP:0012725)1.65654764
139Renovascular hypertension (HP:0100817)1.64718816
140Morphological abnormality of the pyramidal tract (HP:0002062)1.63744446

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.23487191
2MARK14.18633703
3MAP3K93.77303657
4EPHA43.59742906
5MAP3K42.77711564
6MINK12.71325955
7NTRK22.40838258
8DAPK22.31694865
9PAK62.21739153
10MAP2K72.21541072
11CAMK1D2.10412196
12CAMKK12.07882939
13PRKD32.05987368
14KSR21.99954517
15NTRK11.93078789
16CASK1.92142909
17MAP2K41.73377603
18KSR11.59950792
19CDK51.53786523
20MAP3K121.52638705
21PHKG11.52500431
22PHKG21.52500431
23MAPK131.46847006
24PRPF4B1.45759049
25TYRO31.44706087
26CAMKK21.44468988
27SIK21.42843026
28UHMK11.32019469
29WNK41.27138403
30TNIK1.24538071
31MAP3K21.21987986
32STK381.20391646
33EEF2K1.20182424
34EPHB21.17469015
35TAOK11.16783666
36DAPK11.13994726
37LATS21.12084665
38PRKCG1.09702725
39FES1.07976001
40RET1.05363422
41ALK1.04615401
42GRK51.04221272
43PNCK1.04208925
44RIPK40.99739442
45PRKCH0.98950534
46TNK20.96702459
47STK110.95453577
48RIPK10.94783599
49SGK4940.94726990
50SGK2230.94726990
51CDK190.93295591
52PLK20.93028631
53ARAF0.92901424
54CDK180.85966527
55CDK150.85260502
56CAMK10.83354958
57MARK20.82433322
58CDK140.82085506
59STK390.81763971
60SGK20.81336813
61SGK30.77300982
62PAK30.77195527
63CSNK1G20.74675069
64CAMK2A0.74461606
65CDK11A0.73408227
66DYRK1A0.71495037
67LMTK20.70805433
68CDC42BPA0.70704179
69PDGFRA0.70458991
70SCYL20.69615043
71CAMK1G0.66708984
72WNK10.63951995
73INSRR0.63187220
74PRKCZ0.62464593
75SGK10.62213178
76LIMK10.60533007
77ICK0.58557618
78BRSK10.58399808
79PINK10.58170177
80MAP3K130.56746568
81CSNK1E0.56624917
82TRIB30.56436632
83MAP3K10.56279967
84PDPK10.56166082
85RPS6KA20.56056713
86CAMK2G0.54235709
87CAMK2B0.52998667
88ERBB30.52740323
89RPS6KA30.52022416
90CAMK40.51272097
91CSNK1G30.50261397
92FGFR20.49864377
93BMX0.49745250
94MAPK120.49051039
95CSNK1A1L0.48515058
96DYRK1B0.47919300
97WNK30.47749090
98ERBB20.47538514
99RAF10.47138472
100PDK10.47056340
101MAPK100.46782590
102PRKCE0.46020632
103FYN0.45417327
104NEK10.45319315
105BRAF0.44823571
106MTOR0.42908293
107CCNB10.41361206
108MAP3K110.41098928
109ROCK20.41088796
110SIK10.41077764
111PTK20.39975489
112PRKD20.39896603
113NEK60.39021020
114DYRK20.38451996
115GSK3B0.38026550
116MAP2K10.36633790
117DYRK30.35045910
118CAMK2D0.34769118
119PDGFRB0.34459569
120IRAK20.34026679
121PRKAA10.33363589
122PKN10.33252159
123PRKDC0.33121162
124MAPKAPK50.32798715
125BCR0.32746196
126MAPK150.32094588
127ROCK10.31776189
128CSNK1D0.31390945
129CSNK1G10.31297894
130MAPK80.31228331
131PRKCB0.30312466
132BMPR20.30279595

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.34995968
2Synaptic vesicle cycle_Homo sapiens_hsa047213.17725719
3Olfactory transduction_Homo sapiens_hsa047402.81641876
4GABAergic synapse_Homo sapiens_hsa047272.71724642
5Circadian entrainment_Homo sapiens_hsa047132.59784089
6Morphine addiction_Homo sapiens_hsa050322.47709756
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.45456591
8Glutamatergic synapse_Homo sapiens_hsa047242.44938213
9Long-term potentiation_Homo sapiens_hsa047202.42448041
10Amphetamine addiction_Homo sapiens_hsa050312.29680289
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.24529688
12Dopaminergic synapse_Homo sapiens_hsa047282.19022724
13Insulin secretion_Homo sapiens_hsa049112.09916572
14Cholinergic synapse_Homo sapiens_hsa047251.96298782
15Salivary secretion_Homo sapiens_hsa049701.93965910
16Cocaine addiction_Homo sapiens_hsa050301.92160985
17Taste transduction_Homo sapiens_hsa047421.85692360
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.79691691
19Gastric acid secretion_Homo sapiens_hsa049711.72717944
20Long-term depression_Homo sapiens_hsa047301.72011347
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.70336319
22Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.67511656
23Serotonergic synapse_Homo sapiens_hsa047261.56953563
24Renin secretion_Homo sapiens_hsa049241.55996834
25Oxytocin signaling pathway_Homo sapiens_hsa049211.53752598
26Gap junction_Homo sapiens_hsa045401.51055663
27Type II diabetes mellitus_Homo sapiens_hsa049301.45088867
28GnRH signaling pathway_Homo sapiens_hsa049121.44106939
29Notch signaling pathway_Homo sapiens_hsa043301.41541607
30Calcium signaling pathway_Homo sapiens_hsa040201.38714052
31Estrogen signaling pathway_Homo sapiens_hsa049151.28321904
32Axon guidance_Homo sapiens_hsa043601.28262186
33Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.27538265
34Glioma_Homo sapiens_hsa052141.23692232
35cAMP signaling pathway_Homo sapiens_hsa040241.23351455
36* Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.19134348
37Collecting duct acid secretion_Homo sapiens_hsa049661.12079633
38Basal cell carcinoma_Homo sapiens_hsa052171.11816942
39Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.11784721
40ErbB signaling pathway_Homo sapiens_hsa040121.10862757
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.08831345
42Hippo signaling pathway_Homo sapiens_hsa043901.04626471
43Melanogenesis_Homo sapiens_hsa049161.04389796
44Phosphatidylinositol signaling system_Homo sapiens_hsa040701.02896662
45cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98388141
46Nitrogen metabolism_Homo sapiens_hsa009100.97184811
47Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.89666999
48Phospholipase D signaling pathway_Homo sapiens_hsa040720.88445348
49Dorso-ventral axis formation_Homo sapiens_hsa043200.87423829
50Endometrial cancer_Homo sapiens_hsa052130.85104963
51Vibrio cholerae infection_Homo sapiens_hsa051100.84838255
52Vascular smooth muscle contraction_Homo sapiens_hsa042700.84666104
53Cardiac muscle contraction_Homo sapiens_hsa042600.83897786
54Carbohydrate digestion and absorption_Homo sapiens_hsa049730.82657094
55Oocyte meiosis_Homo sapiens_hsa041140.82069167
56Neurotrophin signaling pathway_Homo sapiens_hsa047220.80614289
57Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.80191303
58Pancreatic secretion_Homo sapiens_hsa049720.77550757
59Dilated cardiomyopathy_Homo sapiens_hsa054140.76188511
60Thyroid hormone synthesis_Homo sapiens_hsa049180.75888192
61MAPK signaling pathway_Homo sapiens_hsa040100.75223483
62AMPK signaling pathway_Homo sapiens_hsa041520.74653361
63Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.72465782
64Choline metabolism in cancer_Homo sapiens_hsa052310.72426939
65mTOR signaling pathway_Homo sapiens_hsa041500.72245668
66Alcoholism_Homo sapiens_hsa050340.70609733
67Vitamin B6 metabolism_Homo sapiens_hsa007500.69787620
68Alzheimers disease_Homo sapiens_hsa050100.69747452
69Type I diabetes mellitus_Homo sapiens_hsa049400.69127659
70Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.67650525
71Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.67125208
72Thyroid hormone signaling pathway_Homo sapiens_hsa049190.65804170
73Non-small cell lung cancer_Homo sapiens_hsa052230.64281640
74VEGF signaling pathway_Homo sapiens_hsa043700.61862427
75Phototransduction_Homo sapiens_hsa047440.60700623
76Ras signaling pathway_Homo sapiens_hsa040140.60021392
77Insulin signaling pathway_Homo sapiens_hsa049100.59482392
78Renal cell carcinoma_Homo sapiens_hsa052110.58923812
79Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.58690698
80Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.57790415
81Longevity regulating pathway - mammal_Homo sapiens_hsa042110.57761022
82Rap1 signaling pathway_Homo sapiens_hsa040150.57731876
83Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.57066994
84Glucagon signaling pathway_Homo sapiens_hsa049220.56620890
85Prion diseases_Homo sapiens_hsa050200.56344862
86Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.56049600
87Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.55567729
88Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.55445878
89Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.55099205
90Sphingolipid signaling pathway_Homo sapiens_hsa040710.54007837
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.53269121
92Endocytosis_Homo sapiens_hsa041440.50763918
93Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.49791869
94Bile secretion_Homo sapiens_hsa049760.49180441
95Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.48800881
96Wnt signaling pathway_Homo sapiens_hsa043100.45686874
97Colorectal cancer_Homo sapiens_hsa052100.45318003
98Sulfur relay system_Homo sapiens_hsa041220.43914925
99Tight junction_Homo sapiens_hsa045300.43422330
100Circadian rhythm_Homo sapiens_hsa047100.42944923
101Prolactin signaling pathway_Homo sapiens_hsa049170.42606329
102Chronic myeloid leukemia_Homo sapiens_hsa052200.41617514
103Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.41596567
104Central carbon metabolism in cancer_Homo sapiens_hsa052300.40983895
105Parkinsons disease_Homo sapiens_hsa050120.40783979
106Ovarian steroidogenesis_Homo sapiens_hsa049130.39880931
107Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.39325125
108Inositol phosphate metabolism_Homo sapiens_hsa005620.39046015
109Chemokine signaling pathway_Homo sapiens_hsa040620.35283055
110Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.29109507
111Hedgehog signaling pathway_Homo sapiens_hsa043400.28317121
112Melanoma_Homo sapiens_hsa052180.26969850

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