HCN1

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 membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.78902957
2synaptic vesicle exocytosis (GO:0016079)5.55511175
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.25399739
4vocalization behavior (GO:0071625)5.13184251
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.10294399
6synaptic vesicle maturation (GO:0016188)4.98591418
7protein localization to synapse (GO:0035418)4.93801914
8glutamate secretion (GO:0014047)4.87381875
9regulation of synaptic vesicle exocytosis (GO:2000300)4.76360671
10regulation of rhodopsin mediated signaling pathway (GO:0022400)4.63764358
11rhodopsin mediated signaling pathway (GO:0016056)4.62424298
12regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.62123133
13detection of light stimulus involved in visual perception (GO:0050908)4.57809309
14detection of light stimulus involved in sensory perception (GO:0050962)4.57809309
15regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.49545655
16synaptic vesicle docking involved in exocytosis (GO:0016081)4.46681870
17locomotory exploration behavior (GO:0035641)4.44948562
18gamma-aminobutyric acid signaling pathway (GO:0007214)4.42001747
19regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.41149561
20cellular potassium ion homeostasis (GO:0030007)4.36036140
21neuron cell-cell adhesion (GO:0007158)4.35523395
22neurotransmitter secretion (GO:0007269)4.29658246
23neuronal action potential propagation (GO:0019227)4.29647538
24ionotropic glutamate receptor signaling pathway (GO:0035235)4.24527133
25glutamate receptor signaling pathway (GO:0007215)4.23540779
26regulation of synaptic vesicle transport (GO:1902803)4.20961533
27regulation of glutamate receptor signaling pathway (GO:1900449)4.12228043
28G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.06140852
29neuron-neuron synaptic transmission (GO:0007270)4.04532909
30regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.01963597
31* retinal cone cell development (GO:0046549)4.01222016
32L-amino acid import (GO:0043092)4.01161316
33synaptic transmission, glutamatergic (GO:0035249)3.98761636
34innervation (GO:0060384)3.98345146
35retinal rod cell development (GO:0046548)3.96315629
36sodium ion export (GO:0071436)3.95034021
37serotonin metabolic process (GO:0042428)3.91459130
38exploration behavior (GO:0035640)3.87141693
39positive regulation of synapse maturation (GO:0090129)3.76868783
40response to histamine (GO:0034776)3.76735151
41cerebellar Purkinje cell differentiation (GO:0021702)3.76534326
42negative regulation of synaptic transmission, GABAergic (GO:0032229)3.76008265
43neurotransmitter transport (GO:0006836)3.74532332
44C4-dicarboxylate transport (GO:0015740)3.73762738
45synaptic vesicle endocytosis (GO:0048488)3.71643690
46cellular sodium ion homeostasis (GO:0006883)3.69802299
47potassium ion import (GO:0010107)3.67992579
48positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.67706944
49cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.65939297
50long-term synaptic potentiation (GO:0060291)3.64366612
51regulation of excitatory postsynaptic membrane potential (GO:0060079)3.60442796
52membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.60173623
53positive regulation of dendritic spine morphogenesis (GO:0061003)3.59977803
54membrane hyperpolarization (GO:0060081)3.59459371
55gamma-aminobutyric acid transport (GO:0015812)3.59308585
56positive regulation of membrane potential (GO:0045838)3.57006060
57regulation of postsynaptic membrane potential (GO:0060078)3.56364956
58axon ensheathment in central nervous system (GO:0032291)3.55501341
59central nervous system myelination (GO:0022010)3.55501341
60primary amino compound metabolic process (GO:1901160)3.53607473
61regulation of neuronal synaptic plasticity (GO:0048168)3.53090825
62* photoreceptor cell development (GO:0042461)3.52918795
63regulation of long-term neuronal synaptic plasticity (GO:0048169)3.51443171
64long-term memory (GO:0007616)3.49833987
65regulation of neurotransmitter secretion (GO:0046928)3.47241165
66neurotransmitter-gated ion channel clustering (GO:0072578)3.46059244
67regulation of voltage-gated calcium channel activity (GO:1901385)3.45751775
68regulation of dendritic spine morphogenesis (GO:0061001)3.44883426
69membrane depolarization during action potential (GO:0086010)3.44217987
70amino acid import (GO:0043090)3.41823821
71negative regulation of cytosolic calcium ion concentration (GO:0051481)3.39070963
72* eye photoreceptor cell development (GO:0042462)3.39029164
73positive regulation of dendritic spine development (GO:0060999)3.38876410
74photoreceptor cell maintenance (GO:0045494)3.37063017
75cell differentiation in hindbrain (GO:0021533)3.36634167
76neuromuscular synaptic transmission (GO:0007274)3.36615642
77startle response (GO:0001964)3.36132085
78behavioral defense response (GO:0002209)3.33958038
79behavioral fear response (GO:0001662)3.33958038
80negative regulation of dendrite morphogenesis (GO:0050774)3.33088562
81peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.31899322
82neuron recognition (GO:0008038)3.31048973
83regulation of dendritic spine development (GO:0060998)3.30556869
84presynaptic membrane assembly (GO:0097105)3.28953739
85acidic amino acid transport (GO:0015800)3.28658285
86layer formation in cerebral cortex (GO:0021819)3.28512743
87neuromuscular process controlling posture (GO:0050884)3.27435125
88regulation of vesicle fusion (GO:0031338)3.26229608
89potassium ion homeostasis (GO:0055075)3.26150669
90cell communication by electrical coupling (GO:0010644)3.24544973
91detection of calcium ion (GO:0005513)3.23891863
92cerebellar granule cell differentiation (GO:0021707)3.18012974
93regulation of neurotransmitter levels (GO:0001505)3.16102054
94regulation of neurotransmitter transport (GO:0051588)3.15373998
95long term synaptic depression (GO:0060292)3.15357863
96regulation of synaptic plasticity (GO:0048167)3.14524695
97neuronal ion channel clustering (GO:0045161)3.14430065
98auditory behavior (GO:0031223)3.14140350
99striatum development (GO:0021756)3.12875337
100fear response (GO:0042596)3.12677409
101membrane depolarization (GO:0051899)3.12673040
102regulation of synapse structural plasticity (GO:0051823)3.10656604
103synapse assembly (GO:0007416)3.09149188
104regulation of synaptic transmission, glutamatergic (GO:0051966)3.09065702
105postsynaptic membrane organization (GO:0001941)3.08574535
106positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.07858912
107neurotransmitter uptake (GO:0001504)3.07661784
108positive regulation of neurotransmitter transport (GO:0051590)3.07063278
109regulation of cell communication by electrical coupling (GO:0010649)3.05836197
110short-term memory (GO:0007614)3.05370367
111regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.05160008
112transmission of nerve impulse (GO:0019226)3.04458973
113adult walking behavior (GO:0007628)3.03198665
114* synaptic transmission (GO:0007268)3.03082993
115proline transport (GO:0015824)3.00364782
116presynaptic membrane organization (GO:0097090)3.00341393
117dendritic spine morphogenesis (GO:0060997)2.99476297
118behavioral response to cocaine (GO:0048148)2.99105086
119regulation of clathrin-mediated endocytosis (GO:2000369)2.98522035
120regulation of synaptic transmission (GO:0050804)2.98082225
121chemosensory behavior (GO:0007635)2.97933617
122positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.97305149
123* potassium ion transmembrane transport (GO:0071805)2.97155926
124* cellular potassium ion transport (GO:0071804)2.97155926
125response to pheromone (GO:0019236)2.96395697
126learning (GO:0007612)2.95648698
127regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.95410996
128L-glutamate transport (GO:0015813)2.95357735
129cell communication involved in cardiac conduction (GO:0086065)2.94667770
130axonal fasciculation (GO:0007413)2.94602930
131regulation of synapse maturation (GO:0090128)2.92639357
132establishment of synaptic vesicle localization (GO:0097480)2.90458342
133synaptic vesicle transport (GO:0048489)2.90458342
134positive regulation of potassium ion transmembrane transport (GO:1901381)2.90446198

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.92360614
2GBX2_23144817_ChIP-Seq_PC3_Human4.17736332
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.01911725
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.98538223
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.96375289
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.63078514
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.53553438
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.53553438
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.49758403
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.46252699
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.46002497
12* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.41749863
13DROSHA_22980978_ChIP-Seq_HELA_Human2.41312983
14* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.40494722
15EZH2_27304074_Chip-Seq_ESCs_Mouse2.38004115
16ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.28023824
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.20525003
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.17886987
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.15815146
20* EZH2_27294783_Chip-Seq_ESCs_Mouse2.15285443
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.13656035
22RARB_27405468_Chip-Seq_BRAIN_Mouse2.10994543
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.10691073
24REST_18959480_ChIP-ChIP_MESCs_Mouse2.08014884
25* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.00549421
26* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.97236423
27TAF15_26573619_Chip-Seq_HEK293_Human1.96118212
28* SMAD4_21799915_ChIP-Seq_A2780_Human1.95397826
29* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.91761237
30CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.89803712
31IKZF1_21737484_ChIP-ChIP_HCT116_Human1.84268377
32ZFP57_27257070_Chip-Seq_ESCs_Mouse1.84120317
33PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.79700668
34* AR_21572438_ChIP-Seq_LNCaP_Human1.75520232
35* P300_19829295_ChIP-Seq_ESCs_Human1.64048264
36POU3F2_20337985_ChIP-ChIP_501MEL_Human1.56479375
37NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.52465309
38* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.48335109
39SMAD_19615063_ChIP-ChIP_OVARY_Human1.48099087
40SMAD3_21741376_ChIP-Seq_EPCs_Human1.46246629
41* GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.45602732
42TOP2B_26459242_ChIP-Seq_MCF-7_Human1.44103073
43AR_25329375_ChIP-Seq_VCAP_Human1.43439611
44RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.41348513
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.40911587
46* PIAS1_25552417_ChIP-Seq_VCAP_Human1.40464591
47STAT3_23295773_ChIP-Seq_U87_Human1.38685112
48RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.38114960
49TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.38098116
50P53_22127205_ChIP-Seq_FIBROBLAST_Human1.36981398
51CBX2_27304074_Chip-Seq_ESCs_Mouse1.36768004
52PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.35671594
53SOX2_21211035_ChIP-Seq_LN229_Gbm1.35247227
54EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.35215485
55* FUS_26573619_Chip-Seq_HEK293_Human1.29723519
56* AR_19668381_ChIP-Seq_PC3_Human1.29164232
57SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29160848
58* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.28025117
59ZNF274_21170338_ChIP-Seq_K562_Hela1.27683416
60* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.27108153
61RNF2_27304074_Chip-Seq_NSC_Mouse1.24691762
62VDR_22108803_ChIP-Seq_LS180_Human1.24330846
63PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.24263960
64AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.24007641
65* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.22886484
66* TCF4_23295773_ChIP-Seq_U87_Human1.22082860
67RING1B_27294783_Chip-Seq_ESCs_Mouse1.21749123
68CDX2_19796622_ChIP-Seq_MESCs_Mouse1.20419926
69* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18709597
70PRDM14_20953172_ChIP-Seq_ESCs_Human1.16036673
71UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.15799169
72ERG_21242973_ChIP-ChIP_JURKAT_Human1.15058818
73ARNT_22903824_ChIP-Seq_MCF-7_Human1.14855276
74YAP1_20516196_ChIP-Seq_MESCs_Mouse1.14734734
75MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.13096420
76TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.12603069
77ER_23166858_ChIP-Seq_MCF-7_Human1.12058881
78RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.10391768
79FLI1_27457419_Chip-Seq_LIVER_Mouse1.09003262
80RING1B_27294783_Chip-Seq_NPCs_Mouse1.08922688
81AHR_22903824_ChIP-Seq_MCF-7_Human1.08605281
82CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.08497727
83NANOG_18555785_Chip-Seq_ESCs_Mouse1.08390721
84SMAD3_21741376_ChIP-Seq_HESCs_Human1.07772575
85CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07770807
86* IGF1R_20145208_ChIP-Seq_DFB_Human1.07478583
87RUNX2_22187159_ChIP-Seq_PCA_Human1.07167331
88ZNF217_24962896_ChIP-Seq_MCF-7_Human1.06477928
89MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.06284394
90POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.04659394
91TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04659394
92MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.04324376
93* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.03400356
94* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02714700
95BCAT_22108803_ChIP-Seq_LS180_Human1.02291724
96SMAD3_21741376_ChIP-Seq_ESCs_Human1.01247062
97SMAD4_21741376_ChIP-Seq_HESCs_Human1.00933139
98SMAD4_21741376_ChIP-Seq_EPCs_Human1.00815996
99WT1_25993318_ChIP-Seq_PODOCYTE_Human1.00776135
100NR3C1_21868756_ChIP-Seq_MCF10A_Human1.00386417
101CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.99674196
102KDM2B_26808549_Chip-Seq_REH_Human0.98076600
103VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.97800235
104* FLI1_21867929_ChIP-Seq_TH2_Mouse0.97737998
105TP53_16413492_ChIP-PET_HCT116_Human0.97570361
106JUN_21703547_ChIP-Seq_K562_Human0.97038033
107FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.96233700
108CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.95572305
109MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.95527169
110GATA1_26923725_Chip-Seq_HPCs_Mouse0.95234582
111E2F1_18555785_Chip-Seq_ESCs_Mouse0.94935724
112KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.94344658
113* TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.93415144
114BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.92254329

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.19008703
2MP0003880_abnormal_central_pattern4.28606683
3MP0005551_abnormal_eye_electrophysiolog4.22134824
4MP0003635_abnormal_synaptic_transmissio3.69605408
5MP0004270_analgesia3.36751272
6MP0009046_muscle_twitch3.20796426
7MP0009745_abnormal_behavioral_response3.09493966
8MP0002064_seizures3.03059223
9MP0001968_abnormal_touch/_nociception2.91419826
10* MP0002063_abnormal_learning/memory/cond2.90856544
11MP0002272_abnormal_nervous_system2.72093698
12MP0001486_abnormal_startle_reflex2.67927450
13MP0005423_abnormal_somatic_nervous2.64784209
14MP0006072_abnormal_retinal_apoptosis2.56157743
15MP0002734_abnormal_mechanical_nocicepti2.55995131
16* MP0002572_abnormal_emotion/affect_behav2.53510692
17MP0005253_abnormal_eye_physiology2.48027361
18MP0001984_abnormal_olfaction2.35022465
19MP0002735_abnormal_chemical_nociception2.30732416
20MP0002736_abnormal_nociception_after2.23187343
21MP0002067_abnormal_sensory_capabilities2.12198466
22MP0003011_delayed_dark_adaptation2.08421974
23MP0001501_abnormal_sleep_pattern2.04433998
24MP0002090_abnormal_vision2.01473404
25MP0001502_abnormal_circadian_rhythm1.90327311
26MP0002184_abnormal_innervation1.86715746
27MP0001440_abnormal_grooming_behavior1.84886327
28MP0008569_lethality_at_weaning1.81877537
29MP0002229_neurodegeneration1.75276138
30MP0001970_abnormal_pain_threshold1.71357546
31MP0006276_abnormal_autonomic_nervous1.66959154
32* MP0002882_abnormal_neuron_morphology1.66250139
33MP0008877_abnormal_DNA_methylation1.63623415
34MP0001188_hyperpigmentation1.62371589
35MP0002733_abnormal_thermal_nociception1.61567095
36MP0005195_abnormal_posterior_eye1.60438619
37MP0004924_abnormal_behavior1.58083967
38MP0005386_behavior/neurological_phenoty1.58083967
39MP0002557_abnormal_social/conspecific_i1.58075159
40MP0000778_abnormal_nervous_system1.56818262
41MP0002822_catalepsy1.52628454
42MP0004233_abnormal_muscle_weight1.48538828
43MP0005646_abnormal_pituitary_gland1.47972953
44MP0004147_increased_porphyrin_level1.46385131
45MP0004811_abnormal_neuron_physiology1.46208333
46MP0009780_abnormal_chondrocyte_physiolo1.44483992
47MP0003879_abnormal_hair_cell1.41251094
48MP0002638_abnormal_pupillary_reflex1.39152100
49MP0004142_abnormal_muscle_tone1.38896638
50* MP0002752_abnormal_somatic_nervous1.38656872
51MP0002909_abnormal_adrenal_gland1.38519434
52MP0004145_abnormal_muscle_electrophysio1.36160933
53MP0000955_abnormal_spinal_cord1.36069752
54MP0003329_amyloid_beta_deposits1.33609489
55MP0004885_abnormal_endolymph1.31890183
56MP0002066_abnormal_motor_capabilities/c1.30694966
57MP0001485_abnormal_pinna_reflex1.26267111
58MP0004215_abnormal_myocardial_fiber1.24483639
59MP0003787_abnormal_imprinting1.23228853
60MP0004858_abnormal_nervous_system1.21830258
61MP0010386_abnormal_urinary_bladder1.18696576
62MP0003633_abnormal_nervous_system1.13227254
63MP0001986_abnormal_taste_sensitivity1.10008838
64MP0005394_taste/olfaction_phenotype1.08638443
65MP0005499_abnormal_olfactory_system1.08638443
66MP0001324_abnormal_eye_pigmentation1.08403144
67MP0004043_abnormal_pH_regulation1.08020356
68MP0004742_abnormal_vestibular_system1.06981887
69MP0003690_abnormal_glial_cell1.02813797
70MP0001963_abnormal_hearing_physiology1.01362386
71MP0006292_abnormal_olfactory_placode1.01254278
72MP0000751_myopathy1.00233637
73* MP0002152_abnormal_brain_morphology0.99017005
74MP0005645_abnormal_hypothalamus_physiol0.97459930
75MP0003631_nervous_system_phenotype0.97299883
76MP0003950_abnormal_plasma_membrane0.97074057
77MP0001529_abnormal_vocalization0.96637144
78MP0003634_abnormal_glial_cell0.92399836
79MP0001905_abnormal_dopamine_level0.91140423
80MP0002837_dystrophic_cardiac_calcinosis0.91060635
81MP0000631_abnormal_neuroendocrine_gland0.90179551
82MP0004085_abnormal_heartbeat0.87918125
83MP0005391_vision/eye_phenotype0.86952755
84MP0002069_abnormal_eating/drinking_beha0.82146205
85MP0003122_maternal_imprinting0.81478972
86MP0008872_abnormal_physiological_respon0.76837567
87MP0003137_abnormal_impulse_conducting0.76246924
88MP0003123_paternal_imprinting0.74673194
89MP0003632_abnormal_nervous_system0.72136637
90MP0001177_atelectasis0.67977832
91MP0002653_abnormal_ependyma_morphology0.66599931
92MP0002332_abnormal_exercise_endurance0.65436074
93MP0000569_abnormal_digit_pigmentation0.64857283
94MP0000013_abnormal_adipose_tissue0.64140224
95MP0005409_darkened_coat_color0.64042234
96MP0008874_decreased_physiological_sensi0.64040542
97MP0005167_abnormal_blood-brain_barrier0.64025335
98MP0004484_altered_response_of0.62351349
99MP0005535_abnormal_body_temperature0.60898674
100MP0000026_abnormal_inner_ear0.59199977
101MP0002102_abnormal_ear_morphology0.58880896
102MP0003121_genomic_imprinting0.58838832
103MP0000920_abnormal_myelination0.58459187
104MP0005187_abnormal_penis_morphology0.58393929
105MP0005174_abnormal_tail_pigmentation0.57330190
106MP0004130_abnormal_muscle_cell0.56951853
107MP0008789_abnormal_olfactory_epithelium0.55850810
108MP0002876_abnormal_thyroid_physiology0.55463409
109MP0005620_abnormal_muscle_contractility0.53813779
110MP0010769_abnormal_survival0.52592672
111MP0001346_abnormal_lacrimal_gland0.51316331
112MP0005595_abnormal_vascular_smooth0.50882178
113MP0004036_abnormal_muscle_relaxation0.50583078
114MP0001299_abnormal_eye_distance/0.50351910
115MP0010770_preweaning_lethality0.50318555
116MP0002082_postnatal_lethality0.50318555
117MP0003646_muscle_fatigue0.50205499
118MP0010768_mortality/aging0.49935388

Predicted human phenotypes

RankGene SetZ-score
1Congenital stationary night blindness (HP:0007642)8.80322424
2Focal motor seizures (HP:0011153)6.82017035
3Central scotoma (HP:0000603)5.87363087
4Abnormality of macular pigmentation (HP:0008002)5.46591232
5Abnormal rod and cone electroretinograms (HP:0008323)4.91675835
6Myokymia (HP:0002411)4.90961554
7Bony spicule pigmentary retinopathy (HP:0007737)4.90919302
8Focal seizures (HP:0007359)4.78889492
9* Febrile seizures (HP:0002373)4.63014772
10Atonic seizures (HP:0010819)4.61960260
11* Epileptic encephalopathy (HP:0200134)4.56953164
12Absence seizures (HP:0002121)4.55924395
13Progressive cerebellar ataxia (HP:0002073)4.49520655
14Scotoma (HP:0000575)4.48603419
15Visual hallucinations (HP:0002367)4.46492989
16Absent rod-and cone-mediated responses on ERG (HP:0007688)4.25334415
17Dialeptic seizures (HP:0011146)3.99944310
18Dyschromatopsia (HP:0007641)3.88824495
19Decreased central vision (HP:0007663)3.71788091
20Severe visual impairment (HP:0001141)3.68294325
21Hyperventilation (HP:0002883)3.60529532
22Action tremor (HP:0002345)3.59523271
23Generalized tonic-clonic seizures (HP:0002069)3.46780646
24Gaze-evoked nystagmus (HP:0000640)3.23210913
25Attenuation of retinal blood vessels (HP:0007843)3.23146480
26Chorioretinal atrophy (HP:0000533)3.21507371
27Pigmentary retinal degeneration (HP:0001146)3.21214850
28Limb dystonia (HP:0002451)3.19101865
29Pendular nystagmus (HP:0012043)3.15015542
30Broad-based gait (HP:0002136)3.10968489
31Dysdiadochokinesis (HP:0002075)3.10899075
32Abolished electroretinogram (ERG) (HP:0000550)3.04204205
33Truncal ataxia (HP:0002078)3.00751421
34Genetic anticipation (HP:0003743)2.76281280
35Gait imbalance (HP:0002141)2.74158712
36Choroideremia (HP:0001139)2.69867739
37Photophobia (HP:0000613)2.69339594
38Supranuclear gaze palsy (HP:0000605)2.67523955
39Abnormality of the corticospinal tract (HP:0002492)2.60646304
40Drooling (HP:0002307)2.58617028
41Excessive salivation (HP:0003781)2.58617028
42Scanning speech (HP:0002168)2.58149229
43Depression (HP:0000716)2.57929918
44Increased corneal curvature (HP:0100692)2.57234581
45Keratoconus (HP:0000563)2.57234581
46Cerebral hypomyelination (HP:0006808)2.56525063
47Dysmetria (HP:0001310)2.56140643
48Absent speech (HP:0001344)2.54918272
49Type II diabetes mellitus (HP:0005978)2.53028625
50Torticollis (HP:0000473)2.49488048
51Congenital primary aphakia (HP:0007707)2.48213518
52Poor eye contact (HP:0000817)2.48070069
53Urinary urgency (HP:0000012)2.48007404
54Hemiparesis (HP:0001269)2.45282563
55Degeneration of the lateral corticospinal tracts (HP:0002314)2.45113014
56Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.45113014
57Impaired social interactions (HP:0000735)2.41027192
58Abnormal social behavior (HP:0012433)2.41027192
59Anxiety (HP:0000739)2.40779056
60Epileptiform EEG discharges (HP:0011182)2.39244025
61Medial flaring of the eyebrow (HP:0010747)2.37540567
62Amblyopia (HP:0000646)2.36202695
63Urinary bladder sphincter dysfunction (HP:0002839)2.33441463
64Impaired vibratory sensation (HP:0002495)2.30680514
65Impaired smooth pursuit (HP:0007772)2.30168713
66Papilledema (HP:0001085)2.28111563
67Macular degeneration (HP:0000608)2.27777015
68Mutism (HP:0002300)2.27746439
69Progressive inability to walk (HP:0002505)2.26596503
70Focal dystonia (HP:0004373)2.26295468
71Nephrogenic diabetes insipidus (HP:0009806)2.25832210
72Posterior subcapsular cataract (HP:0007787)2.24544525
73EEG with generalized epileptiform discharges (HP:0011198)2.23702371
74Retinitis pigmentosa (HP:0000510)2.23595812
75Annular pancreas (HP:0001734)2.21393866
76Lower limb muscle weakness (HP:0007340)2.21277759
77Decreased electroretinogram (ERG) amplitude (HP:0000654)2.21269844
78Pheochromocytoma (HP:0002666)2.21010964
79Delusions (HP:0000746)2.19130541
80Impaired vibration sensation in the lower limbs (HP:0002166)2.18120961
81Tetraplegia (HP:0002445)2.16851762
82Cone-rod dystrophy (HP:0000548)2.14783389
83Morphological abnormality of the pyramidal tract (HP:0002062)2.11473636
84Postural instability (HP:0002172)2.10272680
85Akinesia (HP:0002304)2.09039857
86Dysmetric saccades (HP:0000641)2.07768540
87Abnormal eating behavior (HP:0100738)2.04325482
88Polyphagia (HP:0002591)2.04103535
89Ankle clonus (HP:0011448)2.04060616
90Generalized myoclonic seizures (HP:0002123)2.03815339
91Status epilepticus (HP:0002133)2.03611771
92Syncope (HP:0001279)2.02885447
93Diplopia (HP:0000651)2.02461830
94Abnormality of binocular vision (HP:0011514)2.02461830
95Inability to walk (HP:0002540)2.02281454
96Bundle branch block (HP:0011710)2.01467195
97Abnormality of ocular smooth pursuit (HP:0000617)2.00353343
98Neurofibrillary tangles (HP:0002185)2.00273706
99Neuroendocrine neoplasm (HP:0100634)1.98383545
100CNS hypomyelination (HP:0003429)1.98223856
101Hypsarrhythmia (HP:0002521)1.97060305
102Constricted visual fields (HP:0001133)1.94739991
103Incomplete penetrance (HP:0003829)1.91312854
104Prolonged QT interval (HP:0001657)1.90357584
105Hemiplegia (HP:0002301)1.90233596
106Fetal akinesia sequence (HP:0001989)1.89095473
107Clonus (HP:0002169)1.88697424
108Blue irides (HP:0000635)1.88345385
109Postural tremor (HP:0002174)1.87855375
110Spastic tetraparesis (HP:0001285)1.87370101
111Sleep apnea (HP:0010535)1.87350621
112Spastic gait (HP:0002064)1.86860059
113Gait ataxia (HP:0002066)1.86718025
114Specific learning disability (HP:0001328)1.86322105
115Poor coordination (HP:0002370)1.83980414
116Vaginal atresia (HP:0000148)1.83736943
117Bradykinesia (HP:0002067)1.83574867
118Genital tract atresia (HP:0001827)1.83407834
119Abnormality of saccadic eye movements (HP:0000570)1.81145229
120Craniofacial dystonia (HP:0012179)1.80903924
121Optic disc pallor (HP:0000543)1.79840274
122Abnormality of the lower motor neuron (HP:0002366)1.78957089
123Intention tremor (HP:0002080)1.78826595
124Horizontal nystagmus (HP:0000666)1.76085190
125Hypoventilation (HP:0002791)1.75693719
126Abnormal EKG (HP:0003115)1.75580294
127Protruding tongue (HP:0010808)1.75450261
128Vitreoretinal degeneration (HP:0000655)1.73375117
129Ventricular fibrillation (HP:0001663)1.72535138
130Stereotypic behavior (HP:0000733)1.68967245
131Spastic tetraplegia (HP:0002510)1.67979433
132Obstructive sleep apnea (HP:0002870)1.64675431
133Dyskinesia (HP:0100660)1.64064068
134Paraplegia (HP:0010550)1.60524267
135Heart block (HP:0012722)1.59028998
136Confusion (HP:0001289)1.58418589
137Rigidity (HP:0002063)1.55286063

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.43389694
2EPHA43.36225489
3MAP3K43.34920572
4MAP3K92.98524340
5MAP2K72.94635876
6CASK2.82457390
7MINK12.75018977
8MARK12.72409111
9PAK62.21754484
10MAP2K41.98886342
11FRK1.97735488
12MAP3K121.95226173
13RIPK41.89299519
14NTRK21.81641995
15PLK21.71088384
16PNCK1.70386562
17DAPK21.63183715
18PRPF4B1.61199030
19GRK11.59699097
20STK381.57761920
21CAMKK11.51849202
22GRK51.50043274
23TNIK1.48655341
24NTRK11.47504005
25CDK51.43722162
26PRKCG1.41174340
27NEK11.37709108
28KSR21.36249686
29MAPK131.36032186
30KSR11.32560526
31PRKD31.30908245
32CAMKK21.29461462
33SIK21.27095982
34DAPK11.26963174
35AKT31.20246358
36CDK191.18177865
37SGK2231.17498403
38SGK4941.17498403
39PHKG21.17180061
40PHKG11.17180061
41CAMK2A1.14020101
42SGK21.12712412
43PINK11.11051509
44FES1.09932823
45DYRK1A1.04977355
46ARAF1.02681883
47BMPR20.97537562
48CAMK10.96847498
49OBSCN0.96200320
50CAMK1G0.94229721
51TNK20.93546605
52NME10.92026026
53MAP3K130.89096143
54WNK10.87698420
55CAMK2B0.87660373
56SGK30.82192186
57CAMK2D0.81626971
58CDK180.78891024
59STK110.78299035
60PRKCE0.77675611
61OXSR10.77467196
62SGK10.77432702
63CDK140.76034972
64CDK150.76025231
65ADRBK20.75680471
66MAP3K20.73162707
67CCNB10.70481684
68BMPR1B0.70216602
69PRKCH0.68755954
70PAK30.66656437
71LMTK20.64959857
72STK390.64449340
73UHMK10.64133913
74CDK11A0.63956241
75LATS20.60529819
76PRKCZ0.60033035
77PTK2B0.59741557
78FER0.58505474
79MAP4K20.57820459
80MAP3K70.57571470
81RET0.57185077
82RPS6KA30.56642366
83MAPK120.55420856
84PDK10.55403421
85WNK40.54951870
86MAPK100.53352387
87NEK60.52779178
88STK38L0.52031496
89CAMK2G0.51072202
90CSNK1G20.50362119
91RAF10.49802658
92SIK30.49615419
93CSNK1G30.49392592
94WNK30.48780284
95PRKCA0.48741572
96CSNK1A1L0.48374076
97PRKCB0.47573327
98CSNK1D0.47397357
99INSRR0.46866388
100PRKG10.46606857
101MARK20.46362999
102CDK30.46046237
103MAPKAPK50.46002161
104FGFR20.44689297
105TRIM280.44647018
106PRKACA0.44529620
107TYRO30.44067880
108CDC42BPA0.43809728
109ROCK20.43639010
110FYN0.42835778
111CAMK40.41860392
112PDPK10.41822486
113ADRBK10.40384701
114PKN10.39140517
115MAP3K60.38533493
116CSNK1G10.35529159
117MAP2K10.34765151
118CSNK1A10.34317523
119MAP2K60.33363802
120DAPK30.32901868
121PIK3CA0.32859298

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047445.07168648
2Nicotine addiction_Homo sapiens_hsa050334.22313541
3Synaptic vesicle cycle_Homo sapiens_hsa047213.42427729
4GABAergic synapse_Homo sapiens_hsa047273.06371884
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.96355816
6Circadian entrainment_Homo sapiens_hsa047132.64089782
7Morphine addiction_Homo sapiens_hsa050322.63030648
8Olfactory transduction_Homo sapiens_hsa047402.56391308
9Glutamatergic synapse_Homo sapiens_hsa047242.47681517
10Long-term potentiation_Homo sapiens_hsa047202.31663858
11Salivary secretion_Homo sapiens_hsa049702.09748929
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.02938749
13Dopaminergic synapse_Homo sapiens_hsa047282.02072774
14Amphetamine addiction_Homo sapiens_hsa050311.97704095
15Insulin secretion_Homo sapiens_hsa049111.93233455
16Cholinergic synapse_Homo sapiens_hsa047251.83079098
17Taste transduction_Homo sapiens_hsa047421.76931349
18Serotonergic synapse_Homo sapiens_hsa047261.75884377
19Renin secretion_Homo sapiens_hsa049241.68393442
20Collecting duct acid secretion_Homo sapiens_hsa049661.64068200
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.62456163
22Oxytocin signaling pathway_Homo sapiens_hsa049211.59611761
23Long-term depression_Homo sapiens_hsa047301.58479115
24Gastric acid secretion_Homo sapiens_hsa049711.51481284
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.51125695
26Calcium signaling pathway_Homo sapiens_hsa040201.50123543
27Nitrogen metabolism_Homo sapiens_hsa009101.40377777
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.36137295
29Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.35877153
30Cardiac muscle contraction_Homo sapiens_hsa042601.23871366
31Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.22698982
32Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.20645755
33cAMP signaling pathway_Homo sapiens_hsa040241.19626502
34Cocaine addiction_Homo sapiens_hsa050301.13593331
35cGMP-PKG signaling pathway_Homo sapiens_hsa040221.13002174
36GnRH signaling pathway_Homo sapiens_hsa049121.12078861
37Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.11624342
38Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.11483114
39Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.11402876
40Gap junction_Homo sapiens_hsa045401.09495350
41Phosphatidylinositol signaling system_Homo sapiens_hsa040701.06268001
42Circadian rhythm_Homo sapiens_hsa047101.03707180
43Vibrio cholerae infection_Homo sapiens_hsa051100.99357753
44Type II diabetes mellitus_Homo sapiens_hsa049300.95012231
45Vitamin B6 metabolism_Homo sapiens_hsa007500.88529533
46Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.87955142
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.87635897
48Axon guidance_Homo sapiens_hsa043600.85263870
49Dilated cardiomyopathy_Homo sapiens_hsa054140.82428972
50Glioma_Homo sapiens_hsa052140.82206291
51Estrogen signaling pathway_Homo sapiens_hsa049150.81096387
52ErbB signaling pathway_Homo sapiens_hsa040120.79757806
53Pancreatic secretion_Homo sapiens_hsa049720.77787878
54Melanogenesis_Homo sapiens_hsa049160.74532095
55Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.67453679
56Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.66787100
57Butanoate metabolism_Homo sapiens_hsa006500.64950351
58MAPK signaling pathway_Homo sapiens_hsa040100.63352084
59Carbohydrate digestion and absorption_Homo sapiens_hsa049730.62577074
60Thyroid hormone synthesis_Homo sapiens_hsa049180.61983151
61Fatty acid biosynthesis_Homo sapiens_hsa000610.59609409
62Oocyte meiosis_Homo sapiens_hsa041140.58716044
63Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.58673829
64Choline metabolism in cancer_Homo sapiens_hsa052310.56540120
65Phospholipase D signaling pathway_Homo sapiens_hsa040720.54972958
66Alzheimers disease_Homo sapiens_hsa050100.54881980
67Inositol phosphate metabolism_Homo sapiens_hsa005620.53195419
68Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.53153934
69Thyroid hormone signaling pathway_Homo sapiens_hsa049190.52581150
70Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.51597929
71Ras signaling pathway_Homo sapiens_hsa040140.50672750
72Dorso-ventral axis formation_Homo sapiens_hsa043200.49997294
73Glucagon signaling pathway_Homo sapiens_hsa049220.49964941
74Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.47720408
75beta-Alanine metabolism_Homo sapiens_hsa004100.46347101
76Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.46286944
77mTOR signaling pathway_Homo sapiens_hsa041500.46197716
78Oxidative phosphorylation_Homo sapiens_hsa001900.45550259
79Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.45068152
80Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.41529289
81Type I diabetes mellitus_Homo sapiens_hsa049400.41187019
82Central carbon metabolism in cancer_Homo sapiens_hsa052300.41007408
83Histidine metabolism_Homo sapiens_hsa003400.38728555
84VEGF signaling pathway_Homo sapiens_hsa043700.37871081
85Arginine and proline metabolism_Homo sapiens_hsa003300.37194397
86Alcoholism_Homo sapiens_hsa050340.36942806
87Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.36547490
88Mineral absorption_Homo sapiens_hsa049780.36001270
89Ether lipid metabolism_Homo sapiens_hsa005650.35740755
90Rap1 signaling pathway_Homo sapiens_hsa040150.35155907
91SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33894655
92Fructose and mannose metabolism_Homo sapiens_hsa000510.32465436
93Sphingolipid signaling pathway_Homo sapiens_hsa040710.31682867
94Wnt signaling pathway_Homo sapiens_hsa043100.30926846
95Parkinsons disease_Homo sapiens_hsa050120.30674838
96Bile secretion_Homo sapiens_hsa049760.30265911
97Rheumatoid arthritis_Homo sapiens_hsa053230.29653018
98Melanoma_Homo sapiens_hsa052180.29232468
99Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.28837283
100Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.28499874
101Longevity regulating pathway - mammal_Homo sapiens_hsa042110.28420172
102African trypanosomiasis_Homo sapiens_hsa051430.28148936
103Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.27615346
104Renal cell carcinoma_Homo sapiens_hsa052110.26697710
105Endocytosis_Homo sapiens_hsa041440.26091127
106Neurotrophin signaling pathway_Homo sapiens_hsa047220.25904362
107ABC transporters_Homo sapiens_hsa020100.25620927
108Endometrial cancer_Homo sapiens_hsa052130.25554872
109Tight junction_Homo sapiens_hsa045300.25517838
110Glycerolipid metabolism_Homo sapiens_hsa005610.23027337
111Ovarian steroidogenesis_Homo sapiens_hsa049130.22812272
112Insulin signaling pathway_Homo sapiens_hsa049100.22301624
113Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.21112161
114Regulation of autophagy_Homo sapiens_hsa041400.18265548
115Glycerophospholipid metabolism_Homo sapiens_hsa005640.16323046
116Linoleic acid metabolism_Homo sapiens_hsa005910.16248431
117Hippo signaling pathway_Homo sapiens_hsa043900.16228060

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