CHRM1

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 muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 1 is involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract. The gene encoding this receptor is localized to 11q13. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.40973781
2positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.35408233
3synaptic vesicle maturation (GO:0016188)6.05026772
4locomotory exploration behavior (GO:0035641)6.02420090
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.87484057
6vocalization behavior (GO:0071625)5.86046122
7regulation of glutamate receptor signaling pathway (GO:1900449)5.57900843
8synaptic vesicle docking involved in exocytosis (GO:0016081)5.50460641
9synaptic vesicle exocytosis (GO:0016079)5.40264138
10glutamate secretion (GO:0014047)5.37626129
11ionotropic glutamate receptor signaling pathway (GO:0035235)5.37282230
12positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.19342404
13protein localization to synapse (GO:0035418)5.11073190
14regulation of neuronal synaptic plasticity (GO:0048168)5.09353108
15regulation of long-term neuronal synaptic plasticity (GO:0048169)5.03072875
16regulation of synaptic vesicle exocytosis (GO:2000300)4.90523587
17regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.86817869
18regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.80307326
19exploration behavior (GO:0035640)4.80066462
20synaptic transmission, glutamatergic (GO:0035249)4.75072566
21glutamate receptor signaling pathway (GO:0007215)4.67683287
22neurotransmitter-gated ion channel clustering (GO:0072578)4.67675724
23neuronal action potential propagation (GO:0019227)4.62515126
24regulation of synapse structural plasticity (GO:0051823)4.59322238
25amino acid import (GO:0043090)4.54029088
26cerebellar granule cell differentiation (GO:0021707)4.52898695
27regulation of synaptic vesicle transport (GO:1902803)4.51243135
28regulation of voltage-gated calcium channel activity (GO:1901385)4.41417081
29regulation of excitatory postsynaptic membrane potential (GO:0060079)4.40102388
30neuron-neuron synaptic transmission (GO:0007270)4.36641516
31long-term memory (GO:0007616)4.33024289
32dendritic spine morphogenesis (GO:0060997)4.26910355
33neurotransmitter secretion (GO:0007269)4.26568525
34neuron cell-cell adhesion (GO:0007158)4.25577295
35negative regulation of dendrite morphogenesis (GO:0050774)4.23581517
36positive regulation of membrane potential (GO:0045838)4.23129827
37membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.22634544
38regulation of synaptic plasticity (GO:0048167)4.14778518
39regulation of dendritic spine morphogenesis (GO:0061001)4.13724877
40regulation of postsynaptic membrane potential (GO:0060078)4.09206922
41regulation of ARF protein signal transduction (GO:0032012)3.98682468
42positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.93335881
43long-term synaptic potentiation (GO:0060291)3.86909107
44potassium ion homeostasis (GO:0055075)3.85510485
45cerebellar Purkinje cell differentiation (GO:0021702)3.82016639
46positive regulation of neurotransmitter secretion (GO:0001956)3.79523700
47positive regulation of synapse maturation (GO:0090129)3.73985207
48positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.73444452
49proline transport (GO:0015824)3.69555291
50layer formation in cerebral cortex (GO:0021819)3.67252503
51central nervous system myelination (GO:0022010)3.65692369
52axon ensheathment in central nervous system (GO:0032291)3.65692369
53potassium ion import (GO:0010107)3.63524292
54dendritic spine organization (GO:0097061)3.62377589
55regulation of synaptic transmission, glutamatergic (GO:0051966)3.62153664
56cellular potassium ion homeostasis (GO:0030007)3.59497012
57positive regulation of neurotransmitter transport (GO:0051590)3.58017129
58regulation of neurotransmitter secretion (GO:0046928)3.56354633
59gamma-aminobutyric acid transport (GO:0015812)3.53635319
60behavioral fear response (GO:0001662)3.51399584
61behavioral defense response (GO:0002209)3.51399584
62transmission of nerve impulse (GO:0019226)3.50247995
63regulation of dendritic spine development (GO:0060998)3.49749842
64negative regulation of synaptic transmission, GABAergic (GO:0032229)3.49590159
65gamma-aminobutyric acid signaling pathway (GO:0007214)3.47440492
66synaptic vesicle endocytosis (GO:0048488)3.45998932
67regulation of vesicle fusion (GO:0031338)3.45869522
68positive regulation of dendritic spine morphogenesis (GO:0061003)3.42918147
69neurotransmitter transport (GO:0006836)3.42120640
70neuromuscular process controlling balance (GO:0050885)3.41532916
71neuron recognition (GO:0008038)3.41354400
72positive regulation of synaptic transmission, GABAergic (GO:0032230)3.41176856
73positive regulation of dendritic spine development (GO:0060999)3.39673218
74membrane depolarization (GO:0051899)3.38373365
75postsynaptic membrane organization (GO:0001941)3.35959671
76learning (GO:0007612)3.35413330
77vesicle docking involved in exocytosis (GO:0006904)3.34743356
78cytoskeletal anchoring at plasma membrane (GO:0007016)3.34303506
79acidic amino acid transport (GO:0015800)3.34282196
80chemosensory behavior (GO:0007635)3.34259146
81L-amino acid import (GO:0043092)3.33424228
82cellular sodium ion homeostasis (GO:0006883)3.31251460
83regulation of neurotransmitter transport (GO:0051588)3.30651516
84fear response (GO:0042596)3.29847992
85response to histamine (GO:0034776)3.28788355
86auditory behavior (GO:0031223)3.28666049
87serotonin metabolic process (GO:0042428)3.24865813
88G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.23867052
89regulation of synaptic transmission (GO:0050804)3.22725523
90innervation (GO:0060384)3.22280660
91regulation of exocytosis (GO:0017157)3.22113349
92positive regulation of synaptic transmission (GO:0050806)3.21793842
93regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.21084730
94synaptic vesicle transport (GO:0048489)3.20514731
95establishment of synaptic vesicle localization (GO:0097480)3.20514731
96negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.20292803
97presynaptic membrane assembly (GO:0097105)3.20057505
98response to auditory stimulus (GO:0010996)3.19798215
99neuromuscular process controlling posture (GO:0050884)3.19499832
100regulation of neurotransmitter levels (GO:0001505)3.18951626
101activation of protein kinase A activity (GO:0034199)3.18717535
102axonal fasciculation (GO:0007413)3.17232629
103* G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.16737623
104long term synaptic depression (GO:0060292)3.16318676
105regulation of female receptivity (GO:0045924)3.14014424
106neuronal ion channel clustering (GO:0045161)3.12097474
107phosphorelay signal transduction system (GO:0000160)3.10139157
108regulation of glutamate secretion (GO:0014048)3.08822186
109neurotransmitter uptake (GO:0001504)3.08791660
110vesicle docking (GO:0048278)3.08324221
111membrane depolarization during action potential (GO:0086010)3.07874833
112dicarboxylic acid transport (GO:0006835)3.07383784
113* synaptic transmission (GO:0007268)3.06815146
114sodium ion export (GO:0071436)3.06544974
115regulation of synapse maturation (GO:0090128)3.05678600
116positive regulation of dendrite development (GO:1900006)3.05059091
117signal release (GO:0023061)3.04169242
118acid secretion (GO:0046717)3.04067747
119cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.03803223
120membrane hyperpolarization (GO:0060081)3.02332277
121visual learning (GO:0008542)3.01803859
122startle response (GO:0001964)3.00440595
123prepulse inhibition (GO:0060134)3.00380084
124response to amphetamine (GO:0001975)2.98035374
125detection of calcium ion (GO:0005513)2.96811077
126cell communication by electrical coupling (GO:0010644)2.96564459
127neuromuscular process (GO:0050905)2.96281832
128behavioral response to cocaine (GO:0048148)2.96051029

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.38285375
2GBX2_23144817_ChIP-Seq_PC3_Human3.73267333
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.27143838
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.24162417
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.17143467
6RNF2_18974828_ChIP-Seq_MESCs_Mouse2.82976865
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.82976865
8* RARB_27405468_Chip-Seq_BRAIN_Mouse2.82312810
9SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.80835690
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.77936616
11THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.75830387
12REST_21632747_ChIP-Seq_MESCs_Mouse2.74995098
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.65270367
14EZH2_27304074_Chip-Seq_ESCs_Mouse2.58307054
15DROSHA_22980978_ChIP-Seq_HELA_Human2.55969182
16* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.55690716
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.53395089
18* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.53219491
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.39018618
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.29135796
21* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.28843097
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.28715133
23IKZF1_21737484_ChIP-ChIP_HCT116_Human2.21958141
24REST_18959480_ChIP-ChIP_MESCs_Mouse2.18887067
25MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.07079283
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.92994394
27AR_21572438_ChIP-Seq_LNCaP_Human1.85449629
28ZFP281_18757296_ChIP-ChIP_E14_Mouse1.83273768
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.76982098
30SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.76349505
31EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.73912508
32CTBP2_25329375_ChIP-Seq_LNCAP_Human1.70699952
33GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.67179997
34CTBP1_25329375_ChIP-Seq_LNCAP_Human1.65590709
35SMAD4_21799915_ChIP-Seq_A2780_Human1.65520579
36NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.61620476
37TAF15_26573619_Chip-Seq_HEK293_Human1.53552676
38ERG_21242973_ChIP-ChIP_JURKAT_Human1.50391258
39ZFP57_27257070_Chip-Seq_ESCs_Mouse1.48957836
40ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.46237729
41TET1_21490601_ChIP-Seq_MESCs_Mouse1.45865932
42PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.42665610
43P300_19829295_ChIP-Seq_ESCs_Human1.42573238
44SMAD_19615063_ChIP-ChIP_OVARY_Human1.40214235
45PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.39608897
46GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.38484905
47ESR2_21235772_ChIP-Seq_MCF-7_Human1.37496316
48TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.35492164
49SMAD3_21741376_ChIP-Seq_EPCs_Human1.34391715
50* CTCF_27219007_Chip-Seq_Bcells_Human1.33041506
51SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.32437761
52CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.32345209
53* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.32152952
54RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.31049704
55RING1B_27294783_Chip-Seq_ESCs_Mouse1.30581338
56AR_25329375_ChIP-Seq_VCAP_Human1.28180628
57RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.25141087
58SOX2_21211035_ChIP-Seq_LN229_Gbm1.24276451
59NR3C1_23031785_ChIP-Seq_PC12_Mouse1.23567303
60CBX2_27304074_Chip-Seq_ESCs_Mouse1.23335612
61SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.23038973
62LXR_22292898_ChIP-Seq_THP-1_Human1.20091406
63STAT3_23295773_ChIP-Seq_U87_Human1.20011159
64AR_19668381_ChIP-Seq_PC3_Human1.17412693
65TOP2B_26459242_ChIP-Seq_MCF-7_Human1.15012925
66WT1_25993318_ChIP-Seq_PODOCYTE_Human1.14520100
67P53_22127205_ChIP-Seq_FIBROBLAST_Human1.14043769
68TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.12312932
69OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.11603850
70PIAS1_25552417_ChIP-Seq_VCAP_Human1.11285934
71RING1B_27294783_Chip-Seq_NPCs_Mouse1.10943357
72BMI1_23680149_ChIP-Seq_NPCS_Mouse1.09661954
73* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.09476513
74VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.09302727
75TCF4_23295773_ChIP-Seq_U87_Human1.09116733
76ZNF274_21170338_ChIP-Seq_K562_Hela1.09056979
77ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08017601
78KDM2B_26808549_Chip-Seq_SUP-B15_Human1.07346336
79SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.06400985
80RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.05456278
81OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.04772840
82PRDM14_20953172_ChIP-Seq_ESCs_Human1.04558843
83GATA1_26923725_Chip-Seq_HPCs_Mouse1.03374552
84TP53_16413492_ChIP-PET_HCT116_Human1.03184855
85SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.02547006
86SRY_22984422_ChIP-ChIP_TESTIS_Rat1.02524005
87RNF2_27304074_Chip-Seq_NSC_Mouse1.02239027
88OCT4_19829295_ChIP-Seq_ESCs_Human1.01959700
89SMAD3_21741376_ChIP-Seq_HESCs_Human1.01923928
90IGF1R_20145208_ChIP-Seq_DFB_Human1.01322502
91YAP1_20516196_ChIP-Seq_MESCs_Mouse1.01199571
92NR3C1_21868756_ChIP-Seq_MCF10A_Human1.00597062
93TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.00152139
94FUS_26573619_Chip-Seq_HEK293_Human0.99639630
95AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.98289073
96SMC4_20622854_ChIP-Seq_HELA_Human0.97411066
97MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97264891
98RXR_22108803_ChIP-Seq_LS180_Human0.96804241
99* ARNT_22903824_ChIP-Seq_MCF-7_Human0.96595198
100WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.96285383
101SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.95891224
102RUNX2_22187159_ChIP-Seq_PCA_Human0.95745367
103POU3F2_20337985_ChIP-ChIP_501MEL_Human0.95286323
104CDX2_19796622_ChIP-Seq_MESCs_Mouse0.94940010
105UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.94895921
106ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.94364057
107TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.93472345
108AHR_22903824_ChIP-Seq_MCF-7_Human0.93362067
109PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.91855582
110* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.91468760
111JUN_21703547_ChIP-Seq_K562_Human0.91151566
112* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.90613587
113CREB1_26743006_Chip-Seq_LNCaP_Human0.90426165
114GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.90290488
115TP53_18474530_ChIP-ChIP_U2OS_Human0.90215965
116NANOG_18555785_Chip-Seq_ESCs_Mouse0.89946961
117SMAD4_21741376_ChIP-Seq_HESCs_Human0.89461998
118TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89418734
119POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.89418734
120* DPY_21335234_ChIP-Seq_ESCs_Mouse0.88575693
121EGR1_19032775_ChIP-ChIP_M12_Human0.88232012
122* KDM2B_26808549_Chip-Seq_K562_Human0.88006611
123SMAD3_21741376_ChIP-Seq_ESCs_Human0.87497914
124KLF4_19829295_ChIP-Seq_ESCs_Human0.87317318
125PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.87265182
126PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.87247041
127CTNNB1_20460455_ChIP-Seq_HCT116_Human0.85504329
128SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.85263712
129SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84506444
130TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.82603929
131TP53_20018659_ChIP-ChIP_R1E_Mouse0.78507092
132SMAD4_21741376_ChIP-Seq_ESCs_Human0.77853160
133P68_20966046_ChIP-Seq_HELA_Human0.77282024
134DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.77021333
135MYC_19915707_ChIP-ChIP_AK7_Human0.73616362
136TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.73573061
137KDM2B_26808549_Chip-Seq_DND41_Human0.72853682
138RUNX1_26923725_Chip-Seq_HPCs_Mouse0.72274310
139TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.68989934
140UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.68230781
141GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.67952418
142TP53_23651856_ChIP-Seq_MEFs_Mouse0.67134302
143CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.67056130

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.81521045
2MP0003880_abnormal_central_pattern5.17977967
3* MP0003635_abnormal_synaptic_transmissio4.43729914
4MP0002822_catalepsy4.12007702
5MP0004270_analgesia3.81323588
6MP0009745_abnormal_behavioral_response3.79721907
7MP0002063_abnormal_learning/memory/cond3.70849018
8MP0002064_seizures3.30836173
9MP0002572_abnormal_emotion/affect_behav3.00027286
10MP0001968_abnormal_touch/_nociception2.92503986
11MP0009046_muscle_twitch2.76714180
12MP0001486_abnormal_startle_reflex2.74738796
13* MP0002272_abnormal_nervous_system2.55693869
14MP0001501_abnormal_sleep_pattern2.50078020
15MP0005423_abnormal_somatic_nervous2.46311050
16MP0002734_abnormal_mechanical_nocicepti2.45424174
17MP0002736_abnormal_nociception_after2.29903214
18MP0002735_abnormal_chemical_nociception2.17623733
19MP0001440_abnormal_grooming_behavior2.15086916
20MP0009780_abnormal_chondrocyte_physiolo1.94369503
21MP0005646_abnormal_pituitary_gland1.87049244
22MP0001970_abnormal_pain_threshold1.86542719
23MP0008569_lethality_at_weaning1.83247064
24MP0002733_abnormal_thermal_nociception1.80873796
25MP0002067_abnormal_sensory_capabilities1.79173624
26MP0003879_abnormal_hair_cell1.75102989
27MP0004811_abnormal_neuron_physiology1.74315784
28MP0002557_abnormal_social/conspecific_i1.72323960
29MP0004858_abnormal_nervous_system1.72091537
30MP0004924_abnormal_behavior1.64209988
31MP0005386_behavior/neurological_phenoty1.64209988
32MP0003787_abnormal_imprinting1.61856160
33MP0000778_abnormal_nervous_system1.60276794
34MP0002909_abnormal_adrenal_gland1.59037904
35MP0002184_abnormal_innervation1.58687979
36MP0003329_amyloid_beta_deposits1.57833778
37MP0003123_paternal_imprinting1.47825391
38MP0001529_abnormal_vocalization1.43831873
39MP0001188_hyperpigmentation1.41103765
40MP0003633_abnormal_nervous_system1.40458653
41MP0000955_abnormal_spinal_cord1.38665292
42* MP0002066_abnormal_motor_capabilities/c1.34525126
43MP0002882_abnormal_neuron_morphology1.32839598
44MP0003075_altered_response_to1.32666555
45MP0001984_abnormal_olfaction1.32553813
46MP0004885_abnormal_endolymph1.26525661
47MP0010386_abnormal_urinary_bladder1.25798142
48MP0001502_abnormal_circadian_rhythm1.24307186
49MP0006276_abnormal_autonomic_nervous1.21097342
50MP0005645_abnormal_hypothalamus_physiol1.17168915
51MP0003631_nervous_system_phenotype1.16031881
52* MP0001905_abnormal_dopamine_level1.13909549
53MP0008872_abnormal_physiological_respon1.08848822
54MP0001177_atelectasis1.03475195
55MP0008874_decreased_physiological_sensi1.02658310
56MP0005409_darkened_coat_color1.00609613
57MP0004142_abnormal_muscle_tone1.00492899
58* MP0002152_abnormal_brain_morphology1.00347675
59MP0001346_abnormal_lacrimal_gland0.99477355
60MP0002069_abnormal_eating/drinking_beha0.98843904
61MP0005535_abnormal_body_temperature0.88761953
62MP0004510_myositis0.85272768
63MP0004085_abnormal_heartbeat0.82676784
64MP0001963_abnormal_hearing_physiology0.81785994
65MP0005167_abnormal_blood-brain_barrier0.80811351
66MP0000751_myopathy0.80492434
67MP0002876_abnormal_thyroid_physiology0.80331298
68MP0003690_abnormal_glial_cell0.79211135
69MP0002229_neurodegeneration0.78665016
70MP0005551_abnormal_eye_electrophysiolog0.78415895
71MP0004147_increased_porphyrin_level0.72949226
72MP0001986_abnormal_taste_sensitivity0.72116360
73MP0003183_abnormal_peptide_metabolism0.71594036
74MP0001348_abnormal_lacrimal_gland0.71163477
75MP0004742_abnormal_vestibular_system0.70692248
76MP0005499_abnormal_olfactory_system0.70165448
77MP0005394_taste/olfaction_phenotype0.70165448
78MP0000920_abnormal_myelination0.70037857
79MP0002090_abnormal_vision0.69750263
80MP0004484_altered_response_of0.69549256
81MP0005171_absent_coat_pigmentation0.69396217
82MP0000569_abnormal_digit_pigmentation0.69119560
83MP0008877_abnormal_DNA_methylation0.68488227
84MP0003632_abnormal_nervous_system0.68459503
85MP0000604_amyloidosis0.67125628
86MP0003172_abnormal_lysosome_physiology0.67073916
87MP0005623_abnormal_meninges_morphology0.65833883
88MP0003122_maternal_imprinting0.64904063
89MP0004130_abnormal_muscle_cell0.63891281
90MP0000631_abnormal_neuroendocrine_gland0.63619611
91MP0006292_abnormal_olfactory_placode0.63590610
92MP0001485_abnormal_pinna_reflex0.62801898
93MP0003634_abnormal_glial_cell0.61510791
94MP0004145_abnormal_muscle_electrophysio0.61484901
95MP0002752_abnormal_somatic_nervous0.61101190
96MP0008961_abnormal_basal_metabolism0.60989775
97MP0004215_abnormal_myocardial_fiber0.58392087
98* MP0001664_abnormal_digestion0.56226530
99MP0002638_abnormal_pupillary_reflex0.53785727
100MP0005166_decreased_susceptibility_to0.53724959
101MP0003283_abnormal_digestive_organ0.52482633
102MP0003137_abnormal_impulse_conducting0.51457355
103MP0001765_abnormal_ion_homeostasis0.50159970
104MP0000579_abnormal_nail_morphology0.48500039
105MP0010768_mortality/aging0.48243115
106MP0010234_abnormal_vibrissa_follicle0.48065005
107MP0000013_abnormal_adipose_tissue0.47797793
108MP0004043_abnormal_pH_regulation0.47451854
109MP0010769_abnormal_survival0.46546656
110MP0010770_preweaning_lethality0.46337678
111MP0002082_postnatal_lethality0.46337678
112MP0000026_abnormal_inner_ear0.46102636
113MP0002089_abnormal_postnatal_growth/wei0.45839173
114MP0002873_normal_phenotype0.45428925
115MP0003956_abnormal_body_size0.45279765
116MP0003045_fibrosis0.44657502
117MP0005595_abnormal_vascular_smooth0.44643643
118MP0002169_no_abnormal_phenotype0.43979662
119MP0003938_abnormal_ear_development0.42672553

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)9.35361403
2Myokymia (HP:0002411)8.42085710
3Focal seizures (HP:0007359)6.37050050
4Epileptic encephalopathy (HP:0200134)5.51475504
5Visual hallucinations (HP:0002367)5.24162736
6Febrile seizures (HP:0002373)5.17668981
7Atonic seizures (HP:0010819)4.92168602
8Absence seizures (HP:0002121)4.39207871
9Progressive cerebellar ataxia (HP:0002073)4.38994330
10Generalized tonic-clonic seizures (HP:0002069)4.23390759
11Dialeptic seizures (HP:0011146)4.13575454
12Action tremor (HP:0002345)3.83275430
13Broad-based gait (HP:0002136)3.82157084
14Impaired vibration sensation in the lower limbs (HP:0002166)3.78332952
15Hyperventilation (HP:0002883)3.75326250
16Gaze-evoked nystagmus (HP:0000640)3.70329833
17Poor eye contact (HP:0000817)3.68496024
18Cerebral hypomyelination (HP:0006808)3.61528843
19Amblyopia (HP:0000646)3.53786445
20Dysmetria (HP:0001310)3.37589438
21Depression (HP:0000716)3.36824606
22Tetraplegia (HP:0002445)3.30025475
23Dysdiadochokinesis (HP:0002075)3.24349762
24Anxiety (HP:0000739)3.24273962
25Ankle clonus (HP:0011448)3.19883874
26Abnormal social behavior (HP:0012433)3.18568672
27Impaired social interactions (HP:0000735)3.18568672
28Neuronal loss in central nervous system (HP:0002529)3.15159881
29Urinary bladder sphincter dysfunction (HP:0002839)3.12735851
30Supranuclear gaze palsy (HP:0000605)3.09595483
31Postural instability (HP:0002172)3.07620938
32Torticollis (HP:0000473)2.98407056
33Akinesia (HP:0002304)2.95433447
34Annular pancreas (HP:0001734)2.94413317
35Focal dystonia (HP:0004373)2.93488431
36Stereotypic behavior (HP:0000733)2.92019056
37Clonus (HP:0002169)2.87782634
38Truncal ataxia (HP:0002078)2.86755237
39Abnormal eating behavior (HP:0100738)2.84743318
40Abnormality of the lower motor neuron (HP:0002366)2.84287789
41Papilledema (HP:0001085)2.82158580
42Impaired smooth pursuit (HP:0007772)2.79731404
43Apathy (HP:0000741)2.74702431
44Peripheral hypomyelination (HP:0007182)2.68086253
45Drooling (HP:0002307)2.67437034
46Excessive salivation (HP:0003781)2.67437034
47Impaired vibratory sensation (HP:0002495)2.67053646
48Mutism (HP:0002300)2.62693344
49Epileptiform EEG discharges (HP:0011182)2.61611555
50Urinary urgency (HP:0000012)2.55891136
51Bradykinesia (HP:0002067)2.55760530
52Genetic anticipation (HP:0003743)2.55671617
53Absent speech (HP:0001344)2.52222801
54Fetal akinesia sequence (HP:0001989)2.50693616
55Scanning speech (HP:0002168)2.49686856
56Sleep apnea (HP:0010535)2.49063172
57Diplopia (HP:0000651)2.48635374
58Abnormality of binocular vision (HP:0011514)2.48635374
59Diminished motivation (HP:0000745)2.47762751
60Insomnia (HP:0100785)2.47267451
61Hemiparesis (HP:0001269)2.47165478
62Craniofacial dystonia (HP:0012179)2.45377322
63Spastic tetraparesis (HP:0001285)2.42710350
64Progressive inability to walk (HP:0002505)2.40183667
65Rigidity (HP:0002063)2.37394737
66Intention tremor (HP:0002080)2.36290676
67Abnormality of ocular smooth pursuit (HP:0000617)2.34676107
68Ventricular fibrillation (HP:0001663)2.34461198
69EEG with generalized epileptiform discharges (HP:0011198)2.34434418
70Incomplete penetrance (HP:0003829)2.33509309
71Megalencephaly (HP:0001355)2.30845329
72Spastic gait (HP:0002064)2.29651250
73Inability to walk (HP:0002540)2.29205696
74CNS hypomyelination (HP:0003429)2.28915237
75Hemiplegia (HP:0002301)2.28467201
76Abnormality of the corticospinal tract (HP:0002492)2.27612519
77Generalized myoclonic seizures (HP:0002123)2.23830628
78Obstructive sleep apnea (HP:0002870)2.22653373
79Status epilepticus (HP:0002133)2.22351700
80Cerebral inclusion bodies (HP:0100314)2.19881534
81Hypsarrhythmia (HP:0002521)2.19533010
82Blue irides (HP:0000635)2.17252746
83Dysmetric saccades (HP:0000641)2.16767152
84Neurofibrillary tangles (HP:0002185)2.16167821
85Pointed chin (HP:0000307)2.13620617
86Choreoathetosis (HP:0001266)2.11913179
87Rapidly progressive (HP:0003678)2.09151622
88Protruding tongue (HP:0010808)2.09137477
89Lower limb asymmetry (HP:0100559)2.01411367
90Abnormality of saccadic eye movements (HP:0000570)1.99346522
91Bundle branch block (HP:0011710)1.99303809
92Split foot (HP:0001839)1.98509653
93Gait ataxia (HP:0002066)1.97894707
94Dynein arm defect of respiratory motile cilia (HP:0012255)1.95574846
95Absent/shortened dynein arms (HP:0200106)1.95574846
96Abnormal EKG (HP:0003115)1.95571703
97Lower limb muscle weakness (HP:0007340)1.94798606
98Delusions (HP:0000746)1.94414339
99Polyphagia (HP:0002591)1.93872837
100Abnormality of salivation (HP:0100755)1.92453206
101Lower limb amyotrophy (HP:0007210)1.90679595
102Ankyloglossia (HP:0010296)1.90129579
103Bronchomalacia (HP:0002780)1.88510764
104Degeneration of the lateral corticospinal tracts (HP:0002314)1.88079421
105Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.88079421
106Resting tremor (HP:0002322)1.87732342
107Morphological abnormality of the pyramidal tract (HP:0002062)1.85533341
108Memory impairment (HP:0002354)1.84178412
109Deeply set eye (HP:0000490)1.84073675
110Slow saccadic eye movements (HP:0000514)1.83976338
111Abnormality of the periventricular white matter (HP:0002518)1.81890491
112Dementia (HP:0000726)1.81508906
113Inappropriate behavior (HP:0000719)1.81116094
114Palpebral edema (HP:0100540)1.80877499
115Unsteady gait (HP:0002317)1.77742291
116Spinal canal stenosis (HP:0003416)1.76877536
117Increased circulating renin level (HP:0000848)1.74981255
118Generalized hypopigmentation of hair (HP:0011358)1.73531321
119Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.72279936
120Thickened helices (HP:0000391)1.71628308
121Retinal dysplasia (HP:0007973)1.70139401
122Autism (HP:0000717)1.69556848
123Termporal pattern (HP:0011008)1.68412080
124Insidious onset (HP:0003587)1.68412080
125Aplasia involving bones of the upper limbs (HP:0009823)1.68185455
126Aplasia of the phalanges of the hand (HP:0009802)1.68185455
127Aplasia involving bones of the extremities (HP:0009825)1.68185455
128Limb dystonia (HP:0002451)1.67932914

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.96558621
2NTRK34.97367170
3MAP3K93.48887446
4DAPK22.92285684
5MAP3K42.54612668
6MINK12.45403161
7RIPK42.44893687
8PRPF4B2.38931132
9MAP2K72.38700847
10PRKD32.32424293
11KSR22.30782331
12DAPK12.06557410
13PAK62.05363827
14MARK11.95289052
15CAMKK11.90484857
16KSR11.84144421
17CASK1.83531585
18MAP3K121.79501399
19NTRK21.76181066
20MAP3K131.72306677
21TNIK1.71031203
22ARAF1.67534295
23NTRK11.63413261
24PLK21.59131382
25MAP2K41.57465308
26CDK51.56529114
27FES1.43855216
28SIK21.37932529
29GRK51.31767099
30STK381.30805354
31PRKCG1.30241615
32CDK191.28466444
33BMPR21.23589627
34MAP3K21.23043248
35PTK2B1.20710893
36RAF11.14423990
37CAMK11.14090764
38RIPK11.12672237
39MAPK131.09856643
40CAMK2A1.03760410
41CAMK2B0.96631044
42PINK10.95958808
43CAMKK20.89969569
44SGK2230.88570737
45SGK4940.88570737
46TYRO30.87550315
47SGK20.87423549
48MAP3K110.85490516
49TAOK10.85429408
50MAPK120.83200508
51CDK180.82513238
52UHMK10.81315796
53PRKCH0.79808010
54PNCK0.79510060
55CDK150.78974216
56PDK10.76812290
57STK110.75930643
58NME10.74931075
59SGK10.74795792
60SGK30.73606967
61CDK140.73178464
62NEK60.72803206
63TNK20.72043325
64SIK30.70803496
65CDK11A0.68794099
66MARK20.65760298
67MAP3K10.64346616
68OXSR10.63903856
69DYRK1A0.63626972
70PDPK10.63179392
71CAMK1D0.63099054
72MAP3K70.59509041
73FGR0.58013295
74PKN10.56792127
75AKT30.55865165
76CAMK1G0.53836747
77RET0.52938064
78ALK0.51651985
79CAMK40.51340260
80PAK30.50764425
81LIMK10.50754017
82PRKCE0.50316645
83TAOK20.49640069
84BRAF0.48559677
85TESK10.48160400
86CCNB10.47295413
87IRAK20.47281280
88MAP2K10.47042063
89DAPK30.45682297
90RPS6KA30.45007788
91PRKCZ0.42959833
92LATS20.42258470
93FYN0.41655563
94CAMK2D0.41220140
95MAP2K60.40933467
96BRSK10.40239719
97DMPK0.38587667
98CAMK2G0.37757853
99PRKG20.36432606
100LMTK20.36186009
101MAPK100.35388613
102CSNK1G20.34413658
103PHKG20.32997154
104PHKG10.32997154
105FER0.32080004
106ROCK20.30617237
107MOS0.30596704
108PRKCA0.30568755
109PRKCB0.30205417
110ERBB20.29256809
111NEK10.28676261
112CDC42BPA0.27607392
113MAPK80.27518253
114MAP3K60.27064040
115ROCK10.23413585

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.87778699
2Synaptic vesicle cycle_Homo sapiens_hsa047213.13408101
3Olfactory transduction_Homo sapiens_hsa047403.04592429
4Long-term potentiation_Homo sapiens_hsa047202.96393571
5Circadian entrainment_Homo sapiens_hsa047132.92914775
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.75988701
7Glutamatergic synapse_Homo sapiens_hsa047242.75813529
8Amphetamine addiction_Homo sapiens_hsa050312.75222278
9Morphine addiction_Homo sapiens_hsa050322.61663310
10GABAergic synapse_Homo sapiens_hsa047272.60000692
11Salivary secretion_Homo sapiens_hsa049702.35113461
12Dopaminergic synapse_Homo sapiens_hsa047282.20679059
13Insulin secretion_Homo sapiens_hsa049112.06264233
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.04491915
15Gastric acid secretion_Homo sapiens_hsa049711.96796811
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.96088914
17* Cholinergic synapse_Homo sapiens_hsa047251.94874017
18Oxytocin signaling pathway_Homo sapiens_hsa049211.79024685
19* Calcium signaling pathway_Homo sapiens_hsa040201.77591782
20Renin secretion_Homo sapiens_hsa049241.71414632
21Taste transduction_Homo sapiens_hsa047421.71321085
22Long-term depression_Homo sapiens_hsa047301.69601949
23Serotonergic synapse_Homo sapiens_hsa047261.68602090
24Cocaine addiction_Homo sapiens_hsa050301.67413211
25Vitamin B6 metabolism_Homo sapiens_hsa007501.66583336
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.64369287
27GnRH signaling pathway_Homo sapiens_hsa049121.54355541
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.43580600
29Collecting duct acid secretion_Homo sapiens_hsa049661.39469572
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.34917968
31Gap junction_Homo sapiens_hsa045401.32052276
32* cAMP signaling pathway_Homo sapiens_hsa040241.31168544
33Glioma_Homo sapiens_hsa052141.25807558
34Phosphatidylinositol signaling system_Homo sapiens_hsa040701.21648066
35* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.13890980
36cGMP-PKG signaling pathway_Homo sapiens_hsa040221.10005651
37Type II diabetes mellitus_Homo sapiens_hsa049301.07778988
38Melanogenesis_Homo sapiens_hsa049161.07218770
39ErbB signaling pathway_Homo sapiens_hsa040121.06924963
40Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.06501938
41Estrogen signaling pathway_Homo sapiens_hsa049151.05121801
42Axon guidance_Homo sapiens_hsa043601.05027638
43Vascular smooth muscle contraction_Homo sapiens_hsa042701.01524958
44Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.99009608
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.98401677
46Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.98300726
47Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.94812301
48Pancreatic secretion_Homo sapiens_hsa049720.91057511
49Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.89892929
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.88802892
51Nitrogen metabolism_Homo sapiens_hsa009100.86371231
52Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.84534252
53Vibrio cholerae infection_Homo sapiens_hsa051100.80999831
54Choline metabolism in cancer_Homo sapiens_hsa052310.80437397
55Oocyte meiosis_Homo sapiens_hsa041140.79113552
56Phototransduction_Homo sapiens_hsa047440.78652078
57Dorso-ventral axis formation_Homo sapiens_hsa043200.78275335
58Cardiac muscle contraction_Homo sapiens_hsa042600.77954120
59Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.73882634
60Thyroid hormone synthesis_Homo sapiens_hsa049180.72813231
61African trypanosomiasis_Homo sapiens_hsa051430.71401317
62VEGF signaling pathway_Homo sapiens_hsa043700.70554311
63MAPK signaling pathway_Homo sapiens_hsa040100.70489549
64Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.68809590
65Dilated cardiomyopathy_Homo sapiens_hsa054140.64893707
66Rap1 signaling pathway_Homo sapiens_hsa040150.64702899
67Ras signaling pathway_Homo sapiens_hsa040140.63818974
68Type I diabetes mellitus_Homo sapiens_hsa049400.62792053
69Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.62267869
70Neurotrophin signaling pathway_Homo sapiens_hsa047220.60110016
71Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.59250533
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.54826625
73Glucagon signaling pathway_Homo sapiens_hsa049220.53684322
74Carbohydrate digestion and absorption_Homo sapiens_hsa049730.52330696
75Non-small cell lung cancer_Homo sapiens_hsa052230.51492513
76Inositol phosphate metabolism_Homo sapiens_hsa005620.50962192
77Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47596317
78Circadian rhythm_Homo sapiens_hsa047100.46162802
79Fatty acid biosynthesis_Homo sapiens_hsa000610.46112468
80Alcoholism_Homo sapiens_hsa050340.45159474
81Wnt signaling pathway_Homo sapiens_hsa043100.45007215
82Chemokine signaling pathway_Homo sapiens_hsa040620.44506199
83Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.43991599
84Arginine and proline metabolism_Homo sapiens_hsa003300.42624070
85Endocytosis_Homo sapiens_hsa041440.41191026
86Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.40500374
87Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.39133845
88mTOR signaling pathway_Homo sapiens_hsa041500.39044968
89Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.38793018
90Prion diseases_Homo sapiens_hsa050200.37967552
91Arginine biosynthesis_Homo sapiens_hsa002200.37827071
92Histidine metabolism_Homo sapiens_hsa003400.36223142
93Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.35526991
94Endometrial cancer_Homo sapiens_hsa052130.35304849
95Bile secretion_Homo sapiens_hsa049760.35234145
96SNARE interactions in vesicular transport_Homo sapiens_hsa041300.34836569
97Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.33583048
98Longevity regulating pathway - mammal_Homo sapiens_hsa042110.31461756
99Ovarian steroidogenesis_Homo sapiens_hsa049130.31324887
100Mineral absorption_Homo sapiens_hsa049780.30898318
101Tight junction_Homo sapiens_hsa045300.25916910
102Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.25679574
103Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.24852459
104Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.24402856
105AMPK signaling pathway_Homo sapiens_hsa041520.23573603
106Rheumatoid arthritis_Homo sapiens_hsa053230.23490687
107Insulin signaling pathway_Homo sapiens_hsa049100.23396810
108Renal cell carcinoma_Homo sapiens_hsa052110.22859002
109Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.22811753
110Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.22010864
111Alzheimers disease_Homo sapiens_hsa050100.21625904
112HIF-1 signaling pathway_Homo sapiens_hsa040660.21277173
113beta-Alanine metabolism_Homo sapiens_hsa004100.19751726
114Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.16817427

Most similar genes based on co-expression Upload to Enrichr

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