ADGRA1

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 protein that belongs to the adhesion family of G-protein-coupled receptors. Members of this family function in several sensory systems and regulate blood pressure, immune responses, food intake and development. A similar protein in rodents is thought to play a role in in the regulation of neuronal signaling pathways. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.72714993
2vocalization behavior (GO:0071625)5.65290138
3synaptic vesicle exocytosis (GO:0016079)5.56805128
4neuron cell-cell adhesion (GO:0007158)5.41989253
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.41080254
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.16445835
7glutamate secretion (GO:0014047)5.10075089
8regulation of glutamate receptor signaling pathway (GO:1900449)5.00034178
9protein localization to synapse (GO:0035418)4.92205164
10regulation of synaptic vesicle exocytosis (GO:2000300)4.90308546
11regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.87892976
12ionotropic glutamate receptor signaling pathway (GO:0035235)4.87801928
13synaptic vesicle maturation (GO:0016188)4.72592317
14synaptic vesicle docking involved in exocytosis (GO:0016081)4.71722196
15positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.71560184
16locomotory exploration behavior (GO:0035641)4.68786293
17neuronal action potential propagation (GO:0019227)4.68719658
18glutamate receptor signaling pathway (GO:0007215)4.52444712
19synaptic transmission, glutamatergic (GO:0035249)4.39450636
20neurotransmitter secretion (GO:0007269)4.37638813
21regulation of synaptic vesicle transport (GO:1902803)4.36688293
22presynaptic membrane assembly (GO:0097105)4.28780618
23neurotransmitter-gated ion channel clustering (GO:0072578)4.25683170
24sodium ion export (GO:0071436)4.24287168
25axon ensheathment in central nervous system (GO:0032291)4.23878926
26central nervous system myelination (GO:0022010)4.23878926
27neuron-neuron synaptic transmission (GO:0007270)4.22488872
28gamma-aminobutyric acid signaling pathway (GO:0007214)4.14650666
29postsynaptic membrane organization (GO:0001941)4.10667995
30proline transport (GO:0015824)4.01847830
31neuron recognition (GO:0008038)3.96560801
32negative regulation of synaptic transmission, GABAergic (GO:0032229)3.95519080
33exploration behavior (GO:0035640)3.92772123
34gamma-aminobutyric acid transport (GO:0015812)3.91234867
35presynaptic membrane organization (GO:0097090)3.90312496
36regulation of neuronal synaptic plasticity (GO:0048168)3.79675680
37regulation of long-term neuronal synaptic plasticity (GO:0048169)3.76795753
38long-term synaptic potentiation (GO:0060291)3.76779498
39response to histamine (GO:0034776)3.75829294
40neurotransmitter transport (GO:0006836)3.73798553
41regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.73483942
42G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.72892161
43membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.70700325
44establishment of mitochondrion localization (GO:0051654)3.69919537
45regulation of excitatory postsynaptic membrane potential (GO:0060079)3.69335689
46regulation of synaptic transmission, glutamatergic (GO:0051966)3.65917445
47neuronal ion channel clustering (GO:0045161)3.64080850
48L-amino acid import (GO:0043092)3.62114254
49startle response (GO:0001964)3.59654543
50long-term memory (GO:0007616)3.59601862
51regulation of postsynaptic membrane potential (GO:0060078)3.59248957
52pyrimidine nucleobase catabolic process (GO:0006208)3.57339600
53positive regulation of membrane potential (GO:0045838)3.57158211
54transmission of nerve impulse (GO:0019226)3.53937449
55layer formation in cerebral cortex (GO:0021819)3.52188819
56positive regulation of dendritic spine development (GO:0060999)3.49804589
57regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.48150787
58potassium ion homeostasis (GO:0055075)3.46689555
59cerebellar Purkinje cell differentiation (GO:0021702)3.45443218
60axonal fasciculation (GO:0007413)3.45285369
61cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.44533632
62neuromuscular process controlling posture (GO:0050884)3.41125005
63synaptic vesicle endocytosis (GO:0048488)3.40508909
64regulation of synaptic plasticity (GO:0048167)3.39989768
65regulation of neurotransmitter secretion (GO:0046928)3.38113753
66regulation of neurotransmitter levels (GO:0001505)3.36907911
67positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.35757239
68cellular potassium ion homeostasis (GO:0030007)3.34158647
69potassium ion import (GO:0010107)3.33947875
70regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.30907869
71positive regulation of synapse assembly (GO:0051965)3.28980678
72positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.27672431
73positive regulation of synaptic transmission, GABAergic (GO:0032230)3.26970943
74regulation of glutamate secretion (GO:0014048)3.26464440
75amino acid import (GO:0043090)3.25252532
76regulation of synapse structural plasticity (GO:0051823)3.24942595
77regulation of vesicle fusion (GO:0031338)3.24683801
78neuromuscular synaptic transmission (GO:0007274)3.24483000
79dendritic spine organization (GO:0097061)3.24160157
80neuromuscular process controlling balance (GO:0050885)3.23694225
81cell migration in hindbrain (GO:0021535)3.20690946
82energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.20148490
83ATP hydrolysis coupled proton transport (GO:0015991)3.20148490
84positive regulation of dendritic spine morphogenesis (GO:0061003)3.18834122
85negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.18075611
86positive regulation of synapse maturation (GO:0090129)3.17767381
87dendritic spine morphogenesis (GO:0060997)3.15763229
88positive regulation of neurotransmitter transport (GO:0051590)3.15087592
89regulation of neurotransmitter transport (GO:0051588)3.13211334
90regulation of voltage-gated calcium channel activity (GO:1901385)3.12806079
91positive regulation of synaptic transmission (GO:0050806)3.11978310
92regulation of synapse maturation (GO:0090128)3.11676927
93membrane depolarization (GO:0051899)3.11083975
94regulation of respiratory system process (GO:0044065)3.10989674
95mitochondrion transport along microtubule (GO:0047497)3.09610050
96establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.09610050
97membrane hyperpolarization (GO:0060081)3.09079405
98transferrin transport (GO:0033572)3.05655206
99cerebellar granule cell differentiation (GO:0021707)3.05542968
100learning (GO:0007612)3.05042494
101synaptic transmission (GO:0007268)3.04412821
102cell communication by electrical coupling (GO:0010644)3.04286153
103regulation of synaptic transmission (GO:0050804)3.04132416
104synapse assembly (GO:0007416)3.03030751
105nucleobase catabolic process (GO:0046113)3.00723989
106positive regulation of neurotransmitter secretion (GO:0001956)2.99647757
107regulation of dendritic spine development (GO:0060998)2.98836301
108membrane depolarization during action potential (GO:0086010)2.98339459
109regulation of synaptic transmission, GABAergic (GO:0032228)2.97940378
110response to auditory stimulus (GO:0010996)2.97230868
111mechanosensory behavior (GO:0007638)2.95576966
112cell differentiation in hindbrain (GO:0021533)2.95384673
113negative regulation of dendrite morphogenesis (GO:0050774)2.94305589
114auditory behavior (GO:0031223)2.93491406
115regulation of dendritic spine morphogenesis (GO:0061001)2.93351394
116behavioral response to nicotine (GO:0035095)2.92760181
117activation of protein kinase A activity (GO:0034199)2.92717317
118innervation (GO:0060384)2.91445792
119behavioral defense response (GO:0002209)2.90752172
120behavioral fear response (GO:0001662)2.90752172
121neurotransmitter uptake (GO:0001504)2.90711623
122adult walking behavior (GO:0007628)2.89854346
123social behavior (GO:0035176)2.87633820
124intraspecies interaction between organisms (GO:0051703)2.87633820
125righting reflex (GO:0060013)2.87553763
126positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.86523646
127establishment of synaptic vesicle localization (GO:0097480)2.84905926

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.24135147
2GBX2_23144817_ChIP-Seq_PC3_Human4.22809479
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.14370507
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.05298977
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.04995482
6SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.64050734
7REST_21632747_ChIP-Seq_MESCs_Mouse2.59888810
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.58423792
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.58423792
10SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.58174225
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.56369173
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.54137803
13TAF15_26573619_Chip-Seq_HEK293_Human2.46020343
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.44478229
15EED_16625203_ChIP-ChIP_MESCs_Mouse2.40748711
16MTF2_20144788_ChIP-Seq_MESCs_Mouse2.37055639
17SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.35942806
18CTBP2_25329375_ChIP-Seq_LNCAP_Human2.24058180
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.19820101
20NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.18317847
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.10756588
22AR_21572438_ChIP-Seq_LNCaP_Human2.08326716
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.07627836
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.07308269
25CTBP1_25329375_ChIP-Seq_LNCAP_Human2.05600724
26DROSHA_22980978_ChIP-Seq_HELA_Human2.05523271
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.05065201
28EZH2_27294783_Chip-Seq_ESCs_Mouse2.03442436
29RARB_27405468_Chip-Seq_BRAIN_Mouse2.00830941
30ZFP57_27257070_Chip-Seq_ESCs_Mouse1.99917829
31IKZF1_21737484_ChIP-ChIP_HCT116_Human1.98820374
32RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.94584767
33ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.84140977
34SMAD4_21799915_ChIP-Seq_A2780_Human1.83262887
35P300_19829295_ChIP-Seq_ESCs_Human1.74730386
36GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.72409945
37TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.70762128
38SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.68804237
39CBX2_27304074_Chip-Seq_ESCs_Mouse1.64717954
40BMI1_23680149_ChIP-Seq_NPCS_Mouse1.61469268
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.57876484
42MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.53710476
43PIAS1_25552417_ChIP-Seq_VCAP_Human1.48067304
44THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.47774155
45PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.47643610
46POU3F2_20337985_ChIP-ChIP_501MEL_Human1.47346372
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.46913342
48TOP2B_26459242_ChIP-Seq_MCF-7_Human1.45330073
49FUS_26573619_Chip-Seq_HEK293_Human1.44085796
50VDR_22108803_ChIP-Seq_LS180_Human1.42492581
51SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.42131627
52SMAD_19615063_ChIP-ChIP_OVARY_Human1.39672717
53AR_25329375_ChIP-Seq_VCAP_Human1.39525664
54RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.37568813
55OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.37221758
56RNF2_27304074_Chip-Seq_NSC_Mouse1.35892573
57SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34407841
58SOX2_21211035_ChIP-Seq_LN229_Gbm1.34046821
59ERG_21242973_ChIP-ChIP_JURKAT_Human1.33929642
60ZNF274_21170338_ChIP-Seq_K562_Hela1.31703309
61OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.28186755
62GATA1_26923725_Chip-Seq_HPCs_Mouse1.26883293
63STAT3_23295773_ChIP-Seq_U87_Human1.23806393
64TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.23539150
65NR3C1_23031785_ChIP-Seq_PC12_Mouse1.23458090
66IGF1R_20145208_ChIP-Seq_DFB_Human1.22518092
67ER_23166858_ChIP-Seq_MCF-7_Human1.21162483
68CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20020567
69UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.19347138
70RING1B_27294783_Chip-Seq_ESCs_Mouse1.17726997
71TP53_20018659_ChIP-ChIP_R1E_Mouse1.15909863
72TCF4_23295773_ChIP-Seq_U87_Human1.15562675
73MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.11553065
74RUNX2_22187159_ChIP-Seq_PCA_Human1.11346578
75DNAJC2_21179169_ChIP-ChIP_NT2_Human1.11172784
76CDX2_19796622_ChIP-Seq_MESCs_Mouse1.10822942
77AR_19668381_ChIP-Seq_PC3_Human1.10082615
78AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.09683800
79CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.08452330
80EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.07915819
81ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.07279663
82ZFP281_18757296_ChIP-ChIP_E14_Mouse1.07273136
83NANOG_18555785_Chip-Seq_ESCs_Mouse1.06695937
84ARNT_22903824_ChIP-Seq_MCF-7_Human1.06073245
85JUN_21703547_ChIP-Seq_K562_Human1.05320714
86RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.04613516
87CTCF_27219007_Chip-Seq_Bcells_Human1.04567736
88P53_22127205_ChIP-Seq_FIBROBLAST_Human1.04356410
89TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.04206241
90POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.03346217
91TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03346217
92HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.02802423
93PRDM14_20953172_ChIP-Seq_ESCs_Human1.02573716
94KDM2B_26808549_Chip-Seq_K562_Human1.02146244
95NR3C1_21868756_ChIP-Seq_MCF10A_Human1.01067792
96TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99327114
97SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.98639649
98TP53_18474530_ChIP-ChIP_U2OS_Human0.98322299
99BCAT_22108803_ChIP-Seq_LS180_Human0.97559441
100EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.97387461
101AHR_22903824_ChIP-Seq_MCF-7_Human0.97310299
102YAP1_20516196_ChIP-Seq_MESCs_Mouse0.96854116
103ZNF217_24962896_ChIP-Seq_MCF-7_Human0.93444092
104SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.92607222
105ZFP281_27345836_Chip-Seq_ESCs_Mouse0.92414409
106RING1B_27294783_Chip-Seq_NPCs_Mouse0.91133816
107SMAD3_21741376_ChIP-Seq_ESCs_Human0.91069902
108E2F1_18555785_Chip-Seq_ESCs_Mouse0.90918074
109LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90443376
110EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.90403599
111EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.89700809
112CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.89675450
113TET1_21490601_ChIP-Seq_MESCs_Mouse0.88960084
114KDM2B_26808549_Chip-Seq_REH_Human0.88841142
115MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.88151763
116WT1_25993318_ChIP-Seq_PODOCYTE_Human0.88048625
117SOX9_26525672_Chip-Seq_HEART_Mouse0.86829018
118CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.86446581
119KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.83004104
120MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.82560594
121STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.80855554
122WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.77537979
123PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.76260760
124FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.73758076
125SMAD4_21741376_ChIP-Seq_HESCs_Human0.72607988

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern5.53223106
2MP0004859_abnormal_synaptic_plasticity5.43321837
3MP0003635_abnormal_synaptic_transmissio3.98529781
4MP0009745_abnormal_behavioral_response3.46604728
5MP0009046_muscle_twitch3.40467914
6MP0002064_seizures3.33901386
7MP0002063_abnormal_learning/memory/cond3.17552584
8MP0001968_abnormal_touch/_nociception3.13142064
9MP0004270_analgesia3.12627764
10MP0002572_abnormal_emotion/affect_behav2.93796153
11MP0005423_abnormal_somatic_nervous2.66331951
12MP0002272_abnormal_nervous_system2.65276827
13MP0002736_abnormal_nociception_after2.62375756
14MP0001486_abnormal_startle_reflex2.61643575
15MP0002734_abnormal_mechanical_nocicepti2.58986805
16MP0001501_abnormal_sleep_pattern2.51091185
17MP0001440_abnormal_grooming_behavior2.34260082
18MP0006276_abnormal_autonomic_nervous2.26869824
19MP0002735_abnormal_chemical_nociception2.19851923
20MP0002067_abnormal_sensory_capabilities2.13601235
21MP0003122_maternal_imprinting2.10923018
22MP0002822_catalepsy2.06923323
23MP0003787_abnormal_imprinting2.02855957
24MP0002733_abnormal_thermal_nociception1.99555138
25MP0005646_abnormal_pituitary_gland1.97651048
26MP0001970_abnormal_pain_threshold1.96629184
27MP0002653_abnormal_ependyma_morphology1.87659606
28MP0004924_abnormal_behavior1.81686206
29MP0005386_behavior/neurological_phenoty1.81686206
30MP0002557_abnormal_social/conspecific_i1.80860048
31MP0001984_abnormal_olfaction1.80003778
32MP0000778_abnormal_nervous_system1.78900633
33MP0005645_abnormal_hypothalamus_physiol1.75425939
34MP0002184_abnormal_innervation1.71460911
35MP0003329_amyloid_beta_deposits1.67328188
36MP0004142_abnormal_muscle_tone1.67100002
37MP0001529_abnormal_vocalization1.66760625
38MP0008569_lethality_at_weaning1.65778899
39MP0009780_abnormal_chondrocyte_physiolo1.59198206
40MP0003136_yellow_coat_color1.50974649
41MP0001905_abnormal_dopamine_level1.50557791
42MP0001188_hyperpigmentation1.45628614
43MP0004811_abnormal_neuron_physiology1.43827121
44MP0001502_abnormal_circadian_rhythm1.43167760
45MP0003879_abnormal_hair_cell1.43092707
46MP0002066_abnormal_motor_capabilities/c1.41185020
47MP0002882_abnormal_neuron_morphology1.37551531
48MP0004858_abnormal_nervous_system1.36552705
49MP0000955_abnormal_spinal_cord1.34571348
50MP0002909_abnormal_adrenal_gland1.28829038
51MP0005551_abnormal_eye_electrophysiolog1.28670302
52MP0002837_dystrophic_cardiac_calcinosis1.28622578
53MP0003633_abnormal_nervous_system1.18098512
54MP0000751_myopathy1.16551866
55MP0004885_abnormal_endolymph1.09072210
56MP0004133_heterotaxia1.08447958
57MP0002152_abnormal_brain_morphology1.05965135
58MP0002876_abnormal_thyroid_physiology1.05870263
59MP0003283_abnormal_digestive_organ1.03862269
60MP0003631_nervous_system_phenotype1.03011441
61MP0004742_abnormal_vestibular_system0.99466179
62MP0002229_neurodegeneration0.98968079
63MP0010386_abnormal_urinary_bladder0.98449280
64MP0001963_abnormal_hearing_physiology0.96021863
65MP0005394_taste/olfaction_phenotype0.92968910
66MP0005499_abnormal_olfactory_system0.92968910
67MP0002069_abnormal_eating/drinking_beha0.92576388
68MP0008872_abnormal_physiological_respon0.92148079
69MP0002638_abnormal_pupillary_reflex0.90970514
70MP0003121_genomic_imprinting0.90121092
71MP0003861_abnormal_nervous_system0.89455892
72MP0004130_abnormal_muscle_cell0.87672341
73MP0001986_abnormal_taste_sensitivity0.85472730
74MP0008874_decreased_physiological_sensi0.83884855
75MP0005535_abnormal_body_temperature0.83170020
76MP0000631_abnormal_neuroendocrine_gland0.83023956
77MP0002752_abnormal_somatic_nervous0.82536756
78MP0004215_abnormal_myocardial_fiber0.81742897
79MP0003634_abnormal_glial_cell0.81731945
80MP0000013_abnormal_adipose_tissue0.80210265
81MP0004145_abnormal_muscle_electrophysio0.79206945
82MP0005171_absent_coat_pigmentation0.78438754
83MP0004085_abnormal_heartbeat0.78078594
84MP0001177_atelectasis0.75717445
85MP0001664_abnormal_digestion0.75255952
86MP0003938_abnormal_ear_development0.74171220
87MP0003690_abnormal_glial_cell0.73336536
88MP0003632_abnormal_nervous_system0.72502362
89MP0003123_paternal_imprinting0.72443107
90MP0004147_increased_porphyrin_level0.72248371
91MP0000566_synostosis0.70752108
92MP0002090_abnormal_vision0.70309318
93MP0002249_abnormal_larynx_morphology0.69473722
94MP0000604_amyloidosis0.69471981
95MP0000026_abnormal_inner_ear0.68644153
96MP0004484_altered_response_of0.68166743
97MP0002928_abnormal_bile_duct0.67937621
98MP0008877_abnormal_DNA_methylation0.67776896
99MP0003878_abnormal_ear_physiology0.64854891
100MP0005377_hearing/vestibular/ear_phenot0.64854891
101MP0001299_abnormal_eye_distance/0.62188585
102MP0001485_abnormal_pinna_reflex0.62154215
103MP0001943_abnormal_respiration0.62129854
104MP0000920_abnormal_myelination0.60335668
105MP0006072_abnormal_retinal_apoptosis0.60045584
106MP0005253_abnormal_eye_physiology0.58163309
107MP0003137_abnormal_impulse_conducting0.56062442
108MP0005623_abnormal_meninges_morphology0.55670772
109MP0006292_abnormal_olfactory_placode0.55089602
110MP0004233_abnormal_muscle_weight0.54086089
111MP0005195_abnormal_posterior_eye0.53738018
112MP0010770_preweaning_lethality0.53028810
113MP0002082_postnatal_lethality0.53028810
114MP0010769_abnormal_survival0.51340053
115MP0003183_abnormal_peptide_metabolism0.51338558
116MP0003646_muscle_fatigue0.51270420
117MP0008004_abnormal_stomach_pH0.50054848

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.66280235
2Focal seizures (HP:0007359)5.70620002
3Myokymia (HP:0002411)5.66703832
4Epileptic encephalopathy (HP:0200134)5.41371803
5Atonic seizures (HP:0010819)5.37167683
6Febrile seizures (HP:0002373)5.07192795
7Visual hallucinations (HP:0002367)4.76127219
8Absence seizures (HP:0002121)4.46287703
9Progressive cerebellar ataxia (HP:0002073)4.40191662
10Hyperventilation (HP:0002883)4.32524455
11Dialeptic seizures (HP:0011146)4.16020452
12Generalized tonic-clonic seizures (HP:0002069)4.08262465
13Broad-based gait (HP:0002136)3.60636440
14Obstructive sleep apnea (HP:0002870)3.25260718
15Polyphagia (HP:0002591)3.19693032
16Gaze-evoked nystagmus (HP:0000640)3.19246662
17Abnormal eating behavior (HP:0100738)3.18613906
18Supranuclear gaze palsy (HP:0000605)3.18063479
19Dysdiadochokinesis (HP:0002075)3.09461372
20Truncal ataxia (HP:0002078)3.02204437
21Impaired vibration sensation in the lower limbs (HP:0002166)3.01619169
22Gait imbalance (HP:0002141)2.92723658
23Amblyopia (HP:0000646)2.87566484
24Dysmetria (HP:0001310)2.82978627
25Anxiety (HP:0000739)2.81099981
26Abnormal hair whorl (HP:0010721)2.78704255
27Drooling (HP:0002307)2.76956262
28Excessive salivation (HP:0003781)2.76956262
29Abnormality of binocular vision (HP:0011514)2.76573118
30Diplopia (HP:0000651)2.76573118
31Depression (HP:0000716)2.75756625
32Action tremor (HP:0002345)2.74288328
33Epileptiform EEG discharges (HP:0011182)2.73917620
34Poor eye contact (HP:0000817)2.72225892
35Papilledema (HP:0001085)2.67452475
36Craniofacial dystonia (HP:0012179)2.64511523
37Congenital primary aphakia (HP:0007707)2.63661155
38Urinary bladder sphincter dysfunction (HP:0002839)2.60953790
39Progressive inability to walk (HP:0002505)2.56968511
40Medial flaring of the eyebrow (HP:0010747)2.55655964
41Abnormality of the lower motor neuron (HP:0002366)2.55221145
42Pheochromocytoma (HP:0002666)2.53143602
43EEG with generalized epileptiform discharges (HP:0011198)2.52465930
44Hemiparesis (HP:0001269)2.52171897
45Intention tremor (HP:0002080)2.48321420
46Impaired social interactions (HP:0000735)2.46426377
47Abnormal social behavior (HP:0012433)2.46426377
48Ankle clonus (HP:0011448)2.43058350
49Absent/shortened dynein arms (HP:0200106)2.43035871
50Dynein arm defect of respiratory motile cilia (HP:0012255)2.43035871
51Fetal akinesia sequence (HP:0001989)2.41381037
52Status epilepticus (HP:0002133)2.41357736
53Genetic anticipation (HP:0003743)2.41266481
54Nephrogenic diabetes insipidus (HP:0009806)2.40243328
55Akinesia (HP:0002304)2.37437414
56Neurofibrillary tangles (HP:0002185)2.37063122
57Absent speech (HP:0001344)2.34856267
58Postural instability (HP:0002172)2.34836396
59Hypsarrhythmia (HP:0002521)2.34399005
60Peripheral hypomyelination (HP:0007182)2.33446206
61Scanning speech (HP:0002168)2.32136859
62Impaired smooth pursuit (HP:0007772)2.31875138
63Cerebral inclusion bodies (HP:0100314)2.30924991
64Inability to walk (HP:0002540)2.30364378
65Annular pancreas (HP:0001734)2.29906332
66Bradykinesia (HP:0002067)2.27670785
67Failure to thrive in infancy (HP:0001531)2.26442682
68Specific learning disability (HP:0001328)2.25772668
69Neuroendocrine neoplasm (HP:0100634)2.23972145
70Mutism (HP:0002300)2.20014940
71Poor suck (HP:0002033)2.19413228
72Protruding tongue (HP:0010808)2.18192240
73Increased circulating renin level (HP:0000848)2.16085162
74Esotropia (HP:0000565)2.15814792
75Limb dystonia (HP:0002451)2.15257073
76Hemiplegia (HP:0002301)2.14250674
77Generalized myoclonic seizures (HP:0002123)2.14230733
78Blue irides (HP:0000635)2.13870520
79Cerebral hypomyelination (HP:0006808)2.13015220
80Genital tract atresia (HP:0001827)2.12164153
81Morphological abnormality of the pyramidal tract (HP:0002062)2.11610513
82Spastic gait (HP:0002064)2.11071535
83Narrow nasal bridge (HP:0000446)2.10594361
84Vaginal atresia (HP:0000148)2.09510143
85Acute necrotizing encephalopathy (HP:0006965)2.09508595
86Abnormal ciliary motility (HP:0012262)2.06606872
87Impaired vibratory sensation (HP:0002495)2.06226224
88Abnormality of the labia minora (HP:0012880)2.05146501
89Insomnia (HP:0100785)2.04458181
90Abnormality of the corticospinal tract (HP:0002492)2.03916424
91Urinary urgency (HP:0000012)2.03902600
92Dysmetric saccades (HP:0000641)2.03452538
93Megalencephaly (HP:0001355)2.02079485
94Abnormal mitochondria in muscle tissue (HP:0008316)1.98191318
95Hyperthyroidism (HP:0000836)1.97958946
96Progressive macrocephaly (HP:0004481)1.97495907
97Abnormality of ocular smooth pursuit (HP:0000617)1.95833894
98Hypoventilation (HP:0002791)1.95583318
99Focal dystonia (HP:0004373)1.95558908
100Insidious onset (HP:0003587)1.95320393
101Termporal pattern (HP:0011008)1.95320393
102Split foot (HP:0001839)1.93544841
103Clonus (HP:0002169)1.92542793
104Stereotypic behavior (HP:0000733)1.92511840
105Psychosis (HP:0000709)1.92444869
106Spastic tetraplegia (HP:0002510)1.91580918
107Poor coordination (HP:0002370)1.91450409
108Abnormality of salivation (HP:0100755)1.90909168
109Torticollis (HP:0000473)1.89838259
110Incomplete penetrance (HP:0003829)1.88093393
111Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.88064368
112Degeneration of the lateral corticospinal tracts (HP:0002314)1.88064368
113Sleep apnea (HP:0010535)1.87375218
114Oligodactyly (hands) (HP:0001180)1.87096346
115Agitation (HP:0000713)1.86732572
116Delusions (HP:0000746)1.84663650
117Gait ataxia (HP:0002066)1.83682304
118Lower limb muscle weakness (HP:0007340)1.81910086
119Tetraplegia (HP:0002445)1.80835596
120Submucous cleft hard palate (HP:0000176)1.76890371
121Apathy (HP:0000741)1.76253097
122Mitochondrial inheritance (HP:0001427)1.75701092
123Hepatoblastoma (HP:0002884)1.75578881
124Hand muscle atrophy (HP:0009130)1.70414040
125Lower limb asymmetry (HP:0100559)1.69481184
126Abnormality of the diencephalon (HP:0010662)1.66324363
127Hypoplasia of the corpus callosum (HP:0002079)1.66019061
128Aplasia involving bones of the upper limbs (HP:0009823)1.65012121
129Aplasia of the phalanges of the hand (HP:0009802)1.65012121
130Aplasia involving bones of the extremities (HP:0009825)1.65012121
131Diminished motivation (HP:0000745)1.61262187
132Spinal canal stenosis (HP:0003416)1.58512460

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.52509507
2CASK4.11281580
3EPHA43.47332241
4MAP3K123.42539578
5MAP3K43.39621172
6MAP2K73.14429412
7MAP3K92.87711135
8CDK192.38309666
9MARK12.36802345
10MINK12.30947138
11NTRK22.20728217
12MAP2K42.12090933
13TNIK2.08159448
14DAPK21.95940339
15RIPK41.95900411
16PNCK1.95847847
17PLK21.94871596
18PINK11.94154857
19DAPK11.65306079
20PAK61.64589316
21PRPF4B1.52070838
22MAPK131.50147934
23OXSR11.49441016
24GRK51.45771837
25CDK51.39228888
26AKT31.36883828
27PRKCG1.35625792
28NTRK11.31385841
29ARAF1.27361371
30SIK21.25009037
31NME11.22759863
32CAMK2A1.19533236
33KSR11.18538195
34FES1.14441554
35DYRK21.13548953
36UHMK11.05139003
37MAPK151.03986815
38SGK2231.02523867
39SGK4941.02523867
40KSR21.01195816
41STK380.97453954
42SGK20.97286020
43BMPR20.97256143
44CAMKK10.96064834
45CAMK2B0.95897833
46CCNB10.93513108
47PRKD30.91309178
48TNK20.89290152
49SIK30.86241145
50PTK2B0.82408953
51CDK180.81121765
52PHKG10.79823048
53PHKG20.79823048
54CAMK40.78716087
55CAMK1G0.77661090
56PAK30.77138250
57GRK70.76927500
58CDK150.76414175
59CAMK1D0.73694244
60FGR0.73615386
61WNK30.72895959
62DYRK1A0.72809401
63CDK140.72710438
64MUSK0.71037210
65CAMK10.70913261
66CAMKK20.70703307
67LIMK10.70350769
68PRKCE0.69732635
69TSSK60.69371906
70SGK10.66103348
71LATS20.65699087
72EPHB20.65615806
73CDK11A0.65353922
74FGFR20.65151559
75STK110.65072582
76MAP3K130.64945596
77PRKCH0.64916464
78CSNK1G20.62057062
79CAMK2D0.61820053
80ADRBK20.61101267
81SGK30.59661891
82RIPK10.59596019
83FER0.59019583
84BRAF0.58448854
85CAMK2G0.56156435
86PDK30.55614822
87PDK40.55614822
88LMTK20.55391072
89MAP3K70.53962970
90MAPK100.52225086
91INSRR0.51904014
92ROCK20.51553783
93RAF10.51405766
94ADRBK10.50173946
95BCR0.49925687
96ERBB20.49923287
97TYRO30.49794510
98CSNK1G30.49464271
99CSNK1G10.48117459
100IRAK20.46513057
101MAP4K20.45342814
102MAP3K20.44541089
103CDK30.44459780
104ALK0.42781704
105MAPKAPK50.41930039
106MAP3K60.41746770
107MAPK120.41718255
108STK390.41481002
109PDK10.41289780
110NEK60.40857955
111RPS6KA30.40453368
112PRKAA10.40422382
113ROCK10.37979268
114BRSK10.37785694
115PDPK10.37435547
116PRKACA0.37309570
117MYLK0.37303963
118CSNK1A1L0.37263097
119FYN0.37103493
120MARK20.37091359
121DAPK30.36896108
122MAP3K110.36367663
123CDC42BPA0.35882196
124PKN10.35290117
125PRKG10.35154649
126PRKCA0.34993949
127PRKCZ0.34752649
128CSNK1D0.31109222

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.46374332
2Synaptic vesicle cycle_Homo sapiens_hsa047213.80762010
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.92343372
4GABAergic synapse_Homo sapiens_hsa047272.85652141
5Collecting duct acid secretion_Homo sapiens_hsa049662.78332835
6Olfactory transduction_Homo sapiens_hsa047402.59169341
7Morphine addiction_Homo sapiens_hsa050322.59078925
8Circadian entrainment_Homo sapiens_hsa047132.57944097
9Glutamatergic synapse_Homo sapiens_hsa047242.56124857
10Long-term potentiation_Homo sapiens_hsa047202.46586370
11Amphetamine addiction_Homo sapiens_hsa050312.39616963
12Taste transduction_Homo sapiens_hsa047422.10614639
13Salivary secretion_Homo sapiens_hsa049702.07350169
14Dopaminergic synapse_Homo sapiens_hsa047282.04611366
15Insulin secretion_Homo sapiens_hsa049111.95777851
16Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.91385132
17Serotonergic synapse_Homo sapiens_hsa047261.88201917
18Oxidative phosphorylation_Homo sapiens_hsa001901.79211479
19Gastric acid secretion_Homo sapiens_hsa049711.79149545
20Long-term depression_Homo sapiens_hsa047301.71295316
21Vibrio cholerae infection_Homo sapiens_hsa051101.68592638
22Renin secretion_Homo sapiens_hsa049241.66006019
23Cholinergic synapse_Homo sapiens_hsa047251.60678627
24Cocaine addiction_Homo sapiens_hsa050301.59467949
25Calcium signaling pathway_Homo sapiens_hsa040201.59385684
26Aldosterone synthesis and secretion_Homo sapiens_hsa049251.57046582
27Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.49940505
28Oxytocin signaling pathway_Homo sapiens_hsa049211.41692188
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.41190133
30Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.39799917
31Cardiac muscle contraction_Homo sapiens_hsa042601.36136636
32Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.28728447
33Phototransduction_Homo sapiens_hsa047441.27914614
34Alzheimers disease_Homo sapiens_hsa050101.24675821
35GnRH signaling pathway_Homo sapiens_hsa049121.20220281
36Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.19398188
37Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.18695192
38Parkinsons disease_Homo sapiens_hsa050121.17672710
39Maturity onset diabetes of the young_Homo sapiens_hsa049501.15034465
40Gap junction_Homo sapiens_hsa045401.14814686
41Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.12737827
42cAMP signaling pathway_Homo sapiens_hsa040241.12549021
43Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.02874726
44Axon guidance_Homo sapiens_hsa043601.02773252
45Regulation of autophagy_Homo sapiens_hsa041400.96994533
46Melanogenesis_Homo sapiens_hsa049160.94801202
47Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.92216941
48Estrogen signaling pathway_Homo sapiens_hsa049150.92171617
49Phosphatidylinositol signaling system_Homo sapiens_hsa040700.90334942
50Huntingtons disease_Homo sapiens_hsa050160.84897650
51cGMP-PKG signaling pathway_Homo sapiens_hsa040220.84435952
52Type II diabetes mellitus_Homo sapiens_hsa049300.83173230
53ErbB signaling pathway_Homo sapiens_hsa040120.81759455
54Vascular smooth muscle contraction_Homo sapiens_hsa042700.81098283
55Hedgehog signaling pathway_Homo sapiens_hsa043400.79444561
56Rheumatoid arthritis_Homo sapiens_hsa053230.78842058
57Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.74323981
58Pancreatic secretion_Homo sapiens_hsa049720.72335485
59Glioma_Homo sapiens_hsa052140.71641783
60Dilated cardiomyopathy_Homo sapiens_hsa054140.66795825
61Thyroid hormone synthesis_Homo sapiens_hsa049180.66550086
62Type I diabetes mellitus_Homo sapiens_hsa049400.65999020
63Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.65374666
64Basal cell carcinoma_Homo sapiens_hsa052170.63833254
65Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.62806859
66Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.59891062
67MAPK signaling pathway_Homo sapiens_hsa040100.58627925
68Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.56470656
69Oocyte meiosis_Homo sapiens_hsa041140.55579964
70beta-Alanine metabolism_Homo sapiens_hsa004100.55059361
71Phospholipase D signaling pathway_Homo sapiens_hsa040720.53029725
72Glycosaminoglycan degradation_Homo sapiens_hsa005310.52346816
73Glucagon signaling pathway_Homo sapiens_hsa049220.50876796
74Mineral absorption_Homo sapiens_hsa049780.50872908
75Hippo signaling pathway_Homo sapiens_hsa043900.50198287
76Vitamin B6 metabolism_Homo sapiens_hsa007500.49985683
77Ras signaling pathway_Homo sapiens_hsa040140.49703395
78Dorso-ventral axis formation_Homo sapiens_hsa043200.48246126
79Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.48179859
80Circadian rhythm_Homo sapiens_hsa047100.46248972
81Phagosome_Homo sapiens_hsa041450.45762724
82Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.45384154
83Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.42925588
84African trypanosomiasis_Homo sapiens_hsa051430.41736878
85Histidine metabolism_Homo sapiens_hsa003400.40961223
86Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.40900494
87Choline metabolism in cancer_Homo sapiens_hsa052310.40361157
88SNARE interactions in vesicular transport_Homo sapiens_hsa041300.39585975
89Notch signaling pathway_Homo sapiens_hsa043300.39465333
90Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.39133789
91Inositol phosphate metabolism_Homo sapiens_hsa005620.38687469
92Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.38180921
93Alcoholism_Homo sapiens_hsa050340.36858142
94Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.36783427
95Rap1 signaling pathway_Homo sapiens_hsa040150.34503168
96Ovarian steroidogenesis_Homo sapiens_hsa049130.34079726
97Wnt signaling pathway_Homo sapiens_hsa043100.33306962
98Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.31351569
99VEGF signaling pathway_Homo sapiens_hsa043700.30884862
100Prion diseases_Homo sapiens_hsa050200.30750066
101Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.30344598
102Bile secretion_Homo sapiens_hsa049760.30239956
103Sphingolipid signaling pathway_Homo sapiens_hsa040710.29950631
104Butanoate metabolism_Homo sapiens_hsa006500.29722502
105Tight junction_Homo sapiens_hsa045300.29658349
106AMPK signaling pathway_Homo sapiens_hsa041520.29023873
107Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.28982469
108Longevity regulating pathway - mammal_Homo sapiens_hsa042110.28155964
109Arginine and proline metabolism_Homo sapiens_hsa003300.26799514
110Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.25981156
111Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.25199349
112Carbohydrate digestion and absorption_Homo sapiens_hsa049730.23604019
113Fatty acid biosynthesis_Homo sapiens_hsa000610.22856638
114Pyruvate metabolism_Homo sapiens_hsa006200.22792785
115Thyroid hormone signaling pathway_Homo sapiens_hsa049190.21993097
116Neurotrophin signaling pathway_Homo sapiens_hsa047220.20169723
117Glycerophospholipid metabolism_Homo sapiens_hsa005640.19096479

Most similar genes based on co-expression Upload to Enrichr

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