HTR2A

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 one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle docking involved in exocytosis (GO:0016081)6.21017420
2synaptic vesicle exocytosis (GO:0016079)5.89123757
3regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.64924374
4vocalization behavior (GO:0071625)5.62265213
5regulation of short-term neuronal synaptic plasticity (GO:0048172)5.47503800
6synaptic vesicle maturation (GO:0016188)5.37601349
7positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.27517226
8glutamate secretion (GO:0014047)5.25971540
9locomotory exploration behavior (GO:0035641)5.15954682
10regulation of synaptic vesicle exocytosis (GO:2000300)5.14646643
11regulation of glutamate receptor signaling pathway (GO:1900449)5.13140515
12regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.83309789
13neuronal action potential propagation (GO:0019227)4.80309670
14protein localization to synapse (GO:0035418)4.72196062
15central nervous system myelination (GO:0022010)4.66513931
16axon ensheathment in central nervous system (GO:0032291)4.66513931
17neuron cell-cell adhesion (GO:0007158)4.40415584
18ionotropic glutamate receptor signaling pathway (GO:0035235)4.37795597
19regulation of synaptic vesicle transport (GO:1902803)4.34723125
20neuron-neuron synaptic transmission (GO:0007270)4.27476100
21positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.23010524
22L-amino acid import (GO:0043092)4.21748876
23neurotransmitter secretion (GO:0007269)4.17934561
24neurotransmitter-gated ion channel clustering (GO:0072578)4.15925190
25regulation of long-term neuronal synaptic plasticity (GO:0048169)4.10456752
26synaptic transmission, glutamatergic (GO:0035249)4.08532275
27positive regulation of neurotransmitter secretion (GO:0001956)4.01507040
28negative regulation of synaptic transmission, GABAergic (GO:0032229)3.98484233
29sodium ion export (GO:0071436)3.97946434
30exploration behavior (GO:0035640)3.96686145
31regulation of synapse structural plasticity (GO:0051823)3.90146306
32regulation of excitatory postsynaptic membrane potential (GO:0060079)3.88805098
33gamma-aminobutyric acid signaling pathway (GO:0007214)3.87288166
34glutamate receptor signaling pathway (GO:0007215)3.86307152
35cerebellar granule cell differentiation (GO:0021707)3.84370967
36positive regulation of neurotransmitter transport (GO:0051590)3.81010530
37response to histamine (GO:0034776)3.77688603
38membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.77105240
39regulation of neuronal synaptic plasticity (GO:0048168)3.76953253
40proline transport (GO:0015824)3.74706606
41long-term synaptic potentiation (GO:0060291)3.70994153
42regulation of postsynaptic membrane potential (GO:0060078)3.69603379
43positive regulation of membrane potential (GO:0045838)3.65415153
44positive regulation of synapse maturation (GO:0090129)3.61157130
45regulation of glutamate secretion (GO:0014048)3.54863351
46* regulation of synaptic transmission, glutamatergic (GO:0051966)3.51342860
47layer formation in cerebral cortex (GO:0021819)3.51014923
48G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.51000051
49regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.48054109
50regulation of dendritic spine morphogenesis (GO:0061001)3.46802761
51regulation of neurotransmitter secretion (GO:0046928)3.46437837
52regulation of synaptic plasticity (GO:0048167)3.46258816
53long-term memory (GO:0007616)3.45058531
54regulation of voltage-gated calcium channel activity (GO:1901385)3.42781612
55postsynaptic membrane organization (GO:0001941)3.40736176
56cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.39993625
57negative regulation of amino acid transport (GO:0051956)3.39099707
58positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.38575796
59gamma-aminobutyric acid transport (GO:0015812)3.35707902
60potassium ion import (GO:0010107)3.35563870
61presynaptic membrane assembly (GO:0097105)3.34403864
62amino acid import (GO:0043090)3.32926774
63neuromuscular synaptic transmission (GO:0007274)3.30651434
64transferrin transport (GO:0033572)3.29995540
65* negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.27680117
66activation of protein kinase A activity (GO:0034199)3.26828239
67positive regulation of dendritic spine development (GO:0060999)3.24564211
68neurotransmitter transport (GO:0006836)3.22771141
69neurotransmitter uptake (GO:0001504)3.21659838
70startle response (GO:0001964)3.21146707
71synaptic vesicle endocytosis (GO:0048488)3.20473805
72* behavioral response to cocaine (GO:0048148)3.18280342
73energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.17945798
74ATP hydrolysis coupled proton transport (GO:0015991)3.17945798
75potassium ion homeostasis (GO:0055075)3.17336331
76neuromuscular process controlling posture (GO:0050884)3.16435929
77regulation of neurotransmitter transport (GO:0051588)3.14881999
78positive regulation of synaptic transmission (GO:0050806)3.12991596
79G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.11777423
80positive regulation of fibroblast migration (GO:0010763)3.11557712
81regulation of vesicle fusion (GO:0031338)3.11267183
82membrane depolarization (GO:0051899)3.09921969
83presynaptic membrane organization (GO:0097090)3.09789565
84regulation of neurotransmitter levels (GO:0001505)3.08547882
85regulation of dendritic spine development (GO:0060998)3.08529290
86mechanosensory behavior (GO:0007638)3.07954147
87ferric iron transport (GO:0015682)3.05268076
88trivalent inorganic cation transport (GO:0072512)3.05268076
89detection of calcium ion (GO:0005513)3.04991874
90negative regulation of dendrite morphogenesis (GO:0050774)3.04925135
91primary amino compound metabolic process (GO:1901160)3.03617684
92neuronal ion channel clustering (GO:0045161)3.02839716
93negative regulation of appetite (GO:0032099)3.01671080
94negative regulation of response to food (GO:0032096)3.01671080
95neuron recognition (GO:0008038)3.00675459
96regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.00598244
97vesicle docking involved in exocytosis (GO:0006904)2.98735348
98cellular potassium ion transport (GO:0071804)2.96475022
99potassium ion transmembrane transport (GO:0071805)2.96475022
100dendritic spine morphogenesis (GO:0060997)2.96173294
101acidic amino acid transport (GO:0015800)2.94941937
102regulation of protein kinase A signaling (GO:0010738)2.93263978
103behavioral fear response (GO:0001662)2.93142236
104behavioral defense response (GO:0002209)2.93142236
105synaptic transmission, dopaminergic (GO:0001963)2.92611375
106cerebellar Purkinje cell differentiation (GO:0021702)2.92375872
107positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.91898578
108negative regulation of dendrite development (GO:2000171)2.90473592
109response to gravity (GO:0009629)2.90245996
110regulation of sensory perception of pain (GO:0051930)2.89925327
111regulation of sensory perception (GO:0051931)2.89925327
112synaptic vesicle transport (GO:0048489)2.89114238
113establishment of synaptic vesicle localization (GO:0097480)2.89114238
114neuromuscular process controlling balance (GO:0050885)2.88878258
115response to auditory stimulus (GO:0010996)2.88368980
116membrane hyperpolarization (GO:0060081)2.88268082
117auditory behavior (GO:0031223)2.87852566
118cochlea development (GO:0090102)2.87473161
119learning (GO:0007612)2.87297224
120cellular potassium ion homeostasis (GO:0030007)2.85678624
121positive regulation of dendritic spine morphogenesis (GO:0061003)2.85521816
122cellular sodium ion homeostasis (GO:0006883)2.85447098
123positive regulation of synaptic transmission, GABAergic (GO:0032230)2.84605512
124* synaptic transmission (GO:0007268)2.84518317
125membrane depolarization during action potential (GO:0086010)2.82591840
126* regulation of synaptic transmission (GO:0050804)2.81045365
127phagosome maturation (GO:0090382)2.81033512
128transmission of nerve impulse (GO:0019226)2.80147965
129long term synaptic depression (GO:0060292)2.78010188
130cellular response to ammonium ion (GO:0071242)2.75465469
131prepulse inhibition (GO:0060134)2.73944356
132* memory (GO:0007613)2.73514018
133serotonin metabolic process (GO:0042428)2.73338940

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.71231211
2GBX2_23144817_ChIP-Seq_PC3_Human4.29805868
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.26881512
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.18462921
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.13609324
6SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.79694804
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.65791080
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.65791080
9SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.61419531
10TAF15_26573619_Chip-Seq_HEK293_Human2.59990684
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.56193183
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.55750938
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.53032040
14RARB_27405468_Chip-Seq_BRAIN_Mouse2.51614995
15DROSHA_22980978_ChIP-Seq_HELA_Human2.43990868
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.43325954
17REST_21632747_ChIP-Seq_MESCs_Mouse2.36607680
18EZH2_27304074_Chip-Seq_ESCs_Mouse2.34095860
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.28606666
20IKZF1_21737484_ChIP-ChIP_HCT116_Human2.21000411
21SMAD_19615063_ChIP-ChIP_OVARY_Human2.19776338
22CTBP2_25329375_ChIP-Seq_LNCAP_Human2.08887895
23SUZ12_27294783_Chip-Seq_ESCs_Mouse2.07284632
24NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.03185430
25RNF2_27304074_Chip-Seq_ESCs_Mouse1.96729351
26REST_18959480_ChIP-ChIP_MESCs_Mouse1.93007125
27EZH2_27294783_Chip-Seq_ESCs_Mouse1.92640821
28MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.89466931
29SMAD4_21799915_ChIP-Seq_A2780_Human1.85586902
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.76219040
31PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.76042416
32ZFP57_27257070_Chip-Seq_ESCs_Mouse1.75543026
33CTBP1_25329375_ChIP-Seq_LNCAP_Human1.74290638
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.69988068
35AR_21572438_ChIP-Seq_LNCaP_Human1.69178223
36* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.69083702
37* P300_19829295_ChIP-Seq_ESCs_Human1.65393045
38RNF2_27304074_Chip-Seq_NSC_Mouse1.54431207
39GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.52588535
40CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.50281993
41SMAD3_21741376_ChIP-Seq_EPCs_Human1.49277380
42GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.49101579
43SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.48771230
44* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.43386429
45* SOX2_21211035_ChIP-Seq_LN229_Gbm1.42335721
46VDR_22108803_ChIP-Seq_LS180_Human1.41725410
47CDX2_19796622_ChIP-Seq_MESCs_Mouse1.40311138
48ERG_21242973_ChIP-ChIP_JURKAT_Human1.37008182
49PIAS1_25552417_ChIP-Seq_VCAP_Human1.36961103
50RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.36470710
51AR_25329375_ChIP-Seq_VCAP_Human1.36400385
52TP53_16413492_ChIP-PET_HCT116_Human1.35849525
53TOP2B_26459242_ChIP-Seq_MCF-7_Human1.34775687
54PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.34287914
55* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34227083
56TP53_18474530_ChIP-ChIP_U2OS_Human1.32255980
57EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.28361642
58NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.28265501
59NRF2_20460467_ChIP-Seq_MEFs_Mouse1.28265501
60ZNF217_24962896_ChIP-Seq_MCF-7_Human1.24885931
61ZNF274_21170338_ChIP-Seq_K562_Hela1.24174835
62POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.22216308
63TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22216308
64JUN_21703547_ChIP-Seq_K562_Human1.21224072
65TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20777433
66VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.20424319
67* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.20345187
68RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.19734374
69FUS_26573619_Chip-Seq_HEK293_Human1.19493886
70TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.19402771
71ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.18830994
72POU3F2_20337985_ChIP-ChIP_501MEL_Human1.18366764
73MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.17368497
74CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17155826
75CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.16850751
76WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.16364025
77AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.14198648
78STAT3_23295773_ChIP-Seq_U87_Human1.13844098
79TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.13341218
80* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.12989004
81AR_19668381_ChIP-Seq_PC3_Human1.11997318
82CBX2_27304074_Chip-Seq_ESCs_Mouse1.08627350
83NANOG_18555785_Chip-Seq_ESCs_Mouse1.08560868
84IGF1R_20145208_ChIP-Seq_DFB_Human1.07381285
85* TCF4_23295773_ChIP-Seq_U87_Human1.06974881
86LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06899074
87UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.05944321
88* PRDM14_20953172_ChIP-Seq_ESCs_Human1.05491395
89FLI1_27457419_Chip-Seq_LIVER_Mouse1.05356270
90DNAJC2_21179169_ChIP-ChIP_NT2_Human1.04663628
91ER_23166858_ChIP-Seq_MCF-7_Human1.04576316
92RING1B_27294783_Chip-Seq_ESCs_Mouse1.02974130
93ARNT_22903824_ChIP-Seq_MCF-7_Human1.02801372
94BMI1_23680149_ChIP-Seq_NPCS_Mouse1.02081462
95* P53_22127205_ChIP-Seq_FIBROBLAST_Human1.01822739
96RUNX2_22187159_ChIP-Seq_PCA_Human1.01792306
97BCAT_22108803_ChIP-Seq_LS180_Human1.01491883
98* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.01338496
99CBP_20019798_ChIP-Seq_JUKART_Human1.00900131
100IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.00900131
101MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00100179
102CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.98940022
103YAP1_20516196_ChIP-Seq_MESCs_Mouse0.98796600
104AHR_22903824_ChIP-Seq_MCF-7_Human0.98744529
105WT1_25993318_ChIP-Seq_PODOCYTE_Human0.98395364
106TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.95852273
107HTT_18923047_ChIP-ChIP_STHdh_Human0.95692823
108* KDM2B_26808549_Chip-Seq_REH_Human0.94562123
109* ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.94271591
110P53_22387025_ChIP-Seq_ESCs_Mouse0.94240157
111EP300_21415370_ChIP-Seq_HL-1_Mouse0.94169866
112SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94049858
113WT1_19549856_ChIP-ChIP_CCG9911_Human0.93647448
114* FLI1_21867929_ChIP-Seq_TH2_Mouse0.93311990
115SMAD3_21741376_ChIP-Seq_HESCs_Human0.93166710
116FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.93002171
117TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.92695604
118* RXR_22108803_ChIP-Seq_LS180_Human0.91850950
119SMAD3_21741376_ChIP-Seq_ESCs_Human0.90251204
120TRIM28_21343339_ChIP-Seq_HEK293_Human0.89048040
121RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.87356471
122NR3C1_21868756_ChIP-Seq_MCF10A_Human0.86374098
123BP1_19119308_ChIP-ChIP_Hs578T_Human0.86197010

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.51857489
2MP0003880_abnormal_central_pattern4.83747655
3MP0003635_abnormal_synaptic_transmissio4.15644230
4MP0009046_muscle_twitch3.68746750
5MP0009745_abnormal_behavioral_response3.59399914
6MP0001968_abnormal_touch/_nociception3.58746146
7MP0004270_analgesia3.43492660
8MP0002063_abnormal_learning/memory/cond3.33943478
9MP0002064_seizures3.33558167
10MP0002736_abnormal_nociception_after3.02745319
11* MP0002572_abnormal_emotion/affect_behav2.87645876
12MP0002822_catalepsy2.83570847
13MP0002734_abnormal_mechanical_nocicepti2.50511707
14MP0001501_abnormal_sleep_pattern2.49560642
15MP0001486_abnormal_startle_reflex2.46596714
16MP0002272_abnormal_nervous_system2.45761620
17MP0002735_abnormal_chemical_nociception2.28683155
18MP0002067_abnormal_sensory_capabilities1.99523060
19MP0003879_abnormal_hair_cell1.96177209
20MP0000569_abnormal_digit_pigmentation1.95188746
21MP0001440_abnormal_grooming_behavior1.94449878
22MP0002733_abnormal_thermal_nociception1.92644815
23MP0001970_abnormal_pain_threshold1.91588196
24MP0005423_abnormal_somatic_nervous1.85590561
25MP0004885_abnormal_endolymph1.80923352
26MP0008877_abnormal_DNA_methylation1.78836072
27MP0004811_abnormal_neuron_physiology1.78322484
28MP0008569_lethality_at_weaning1.77070490
29MP0004858_abnormal_nervous_system1.66973101
30MP0009780_abnormal_chondrocyte_physiolo1.59488999
31MP0005386_behavior/neurological_phenoty1.58974400
32MP0004924_abnormal_behavior1.58974400
33MP0003303_peritoneal_inflammation1.55491286
34MP0003329_amyloid_beta_deposits1.52299317
35MP0001905_abnormal_dopamine_level1.49049158
36MP0005623_abnormal_meninges_morphology1.46036776
37MP0002909_abnormal_adrenal_gland1.43673187
38MP0003136_yellow_coat_color1.43301709
39MP0005551_abnormal_eye_electrophysiolog1.40890324
40MP0002557_abnormal_social/conspecific_i1.40026783
41MP0002184_abnormal_innervation1.39949785
42MP0005646_abnormal_pituitary_gland1.39635310
43MP0003075_altered_response_to1.38112548
44MP0003633_abnormal_nervous_system1.32627956
45MP0001529_abnormal_vocalization1.28908579
46* MP0002066_abnormal_motor_capabilities/c1.27100751
47MP0001485_abnormal_pinna_reflex1.26631847
48MP0003172_abnormal_lysosome_physiology1.25965596
49MP0004147_increased_porphyrin_level1.17101234
50MP0000751_myopathy1.16277125
51MP0008004_abnormal_stomach_pH1.16180250
52MP0008874_decreased_physiological_sensi1.15564132
53MP0000013_abnormal_adipose_tissue1.14482610
54MP0004510_myositis1.14031970
55MP0001188_hyperpigmentation1.11364328
56MP0002638_abnormal_pupillary_reflex1.10622158
57MP0003787_abnormal_imprinting1.09685226
58MP0003631_nervous_system_phenotype1.09354298
59MP0002882_abnormal_neuron_morphology1.06450893
60MP0010386_abnormal_urinary_bladder1.05337387
61MP0000955_abnormal_spinal_cord1.03529826
62MP0000778_abnormal_nervous_system1.01007731
63MP0003122_maternal_imprinting0.99976400
64MP0001984_abnormal_olfaction0.98877422
65MP0006276_abnormal_autonomic_nervous0.98110261
66MP0004233_abnormal_muscle_weight0.97218991
67MP0000631_abnormal_neuroendocrine_gland0.96214295
68MP0004484_altered_response_of0.96086175
69MP0001177_atelectasis0.95747746
70MP0002090_abnormal_vision0.93145360
71MP0004142_abnormal_muscle_tone0.92442048
72MP0000604_amyloidosis0.90053037
73MP0008872_abnormal_physiological_respon0.86532663
74MP0000026_abnormal_inner_ear0.86082997
75MP0002837_dystrophic_cardiac_calcinosis0.85431758
76MP0005167_abnormal_blood-brain_barrier0.84061652
77MP0005535_abnormal_body_temperature0.83955442
78MP0005410_abnormal_fertilization0.83161528
79MP0002653_abnormal_ependyma_morphology0.81080272
80MP0006292_abnormal_olfactory_placode0.79438362
81MP0004085_abnormal_heartbeat0.79049492
82MP0003121_genomic_imprinting0.78540295
83MP0002152_abnormal_brain_morphology0.78527570
84MP0005645_abnormal_hypothalamus_physiol0.78159442
85MP0005166_decreased_susceptibility_to0.76347457
86MP0002752_abnormal_somatic_nervous0.75265611
87MP0003634_abnormal_glial_cell0.74016330
88MP0008438_abnormal_cutaneous_collagen0.73669623
89MP0005503_abnormal_tendon_morphology0.72758559
90MP0004742_abnormal_vestibular_system0.72322133
91MP0003091_abnormal_cell_migration0.70345853
92MP0000920_abnormal_myelination0.69924177
93MP0003938_abnormal_ear_development0.68070717
94MP0001958_emphysema0.66549486
95MP0003632_abnormal_nervous_system0.65100902
96MP0002069_abnormal_eating/drinking_beha0.64921261
97MP0000566_synostosis0.64138768
98MP0001502_abnormal_circadian_rhythm0.63313092
99MP0001986_abnormal_taste_sensitivity0.62552338
100MP0004215_abnormal_myocardial_fiber0.62444460
101MP0005253_abnormal_eye_physiology0.61167279
102MP0005171_absent_coat_pigmentation0.60951087
103MP0003690_abnormal_glial_cell0.60739321
104MP0005409_darkened_coat_color0.59971400
105MP0004036_abnormal_muscle_relaxation0.59414660
106MP0005595_abnormal_vascular_smooth0.58508606
107MP0000579_abnormal_nail_morphology0.58501095
108MP0002229_neurodegeneration0.58218963
109MP0002876_abnormal_thyroid_physiology0.57893174
110MP0002102_abnormal_ear_morphology0.57865753
111MP0003045_fibrosis0.57803654
112MP0004043_abnormal_pH_regulation0.57502981
113MP0004883_abnormal_blood_vessel0.57386233
114MP0003137_abnormal_impulse_conducting0.56833361
115MP0006072_abnormal_retinal_apoptosis0.55987723
116MP0005394_taste/olfaction_phenotype0.55326423
117MP0005499_abnormal_olfactory_system0.55326423
118MP0001346_abnormal_lacrimal_gland0.55155735
119MP0003123_paternal_imprinting0.54874209
120MP0003279_aneurysm0.54047236
121MP0003698_abnormal_male_reproductive0.53633104
122MP0005058_abnormal_lysosome_morphology0.52578363
123MP0001664_abnormal_digestion0.52071304
124MP0010769_abnormal_survival0.52004567
125MP0002295_abnormal_pulmonary_circulatio0.52004281
126MP0004130_abnormal_muscle_cell0.51529976
127MP0004145_abnormal_muscle_electrophysio0.51387817
128MP0005164_abnormal_response_to0.50967920
129MP0001943_abnormal_respiration0.48212921
130MP0001963_abnormal_hearing_physiology0.48129266
131MP0002133_abnormal_respiratory_system0.45689982

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.66199309
2Atonic seizures (HP:0010819)6.32659928
3Focal seizures (HP:0007359)6.04995564
4Myokymia (HP:0002411)5.78236239
5Epileptic encephalopathy (HP:0200134)5.48296774
6Visual hallucinations (HP:0002367)5.10009348
7Febrile seizures (HP:0002373)4.99707233
8Absence seizures (HP:0002121)4.86841137
9Dialeptic seizures (HP:0011146)4.47533856
10Generalized tonic-clonic seizures (HP:0002069)4.03156937
11Poor eye contact (HP:0000817)3.53430687
12Hyperventilation (HP:0002883)3.45091484
13Abnormality of binocular vision (HP:0011514)3.43898864
14Diplopia (HP:0000651)3.43898864
15Progressive cerebellar ataxia (HP:0002073)3.36222678
16Broad-based gait (HP:0002136)3.20604077
17Impaired social interactions (HP:0000735)3.16911827
18Abnormal social behavior (HP:0012433)3.16911827
19Gaze-evoked nystagmus (HP:0000640)3.10702292
20Impaired vibration sensation in the lower limbs (HP:0002166)3.05477320
21Mutism (HP:0002300)2.96784965
22Action tremor (HP:0002345)2.88066929
23Progressive inability to walk (HP:0002505)2.87640402
24Inability to walk (HP:0002540)2.87348637
25Resting tremor (HP:0002322)2.75873500
26Truncal ataxia (HP:0002078)2.74011857
27Depression (HP:0000716)2.73606565
28Increased cerebral lipofuscin (HP:0011813)2.73576318
29Delusions (HP:0000746)2.70527466
30Abnormal eating behavior (HP:0100738)2.69495495
31Amblyopia (HP:0000646)2.67536333
32Lower limb amyotrophy (HP:0007210)2.57454013
33Supranuclear gaze palsy (HP:0000605)2.54489238
34Dysmetria (HP:0001310)2.52141205
35Dysmetric saccades (HP:0000641)2.50999709
36Epileptiform EEG discharges (HP:0011182)2.49919219
37Drooling (HP:0002307)2.47684394
38Excessive salivation (HP:0003781)2.47684394
39Urinary bladder sphincter dysfunction (HP:0002839)2.47007805
40Impaired smooth pursuit (HP:0007772)2.46700423
41Intention tremor (HP:0002080)2.45036111
42Degeneration of the lateral corticospinal tracts (HP:0002314)2.44491346
43Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.44491346
44Generalized myoclonic seizures (HP:0002123)2.42738937
45Anxiety (HP:0000739)2.42642717
46Ankle clonus (HP:0011448)2.42620440
47Increased neuronal autofluorescent lipopigment (HP:0002074)2.42005164
48Stereotypic behavior (HP:0000733)2.41823581
49Hemiplegia (HP:0002301)2.40571183
50Dysdiadochokinesis (HP:0002075)2.37075751
51Limb dystonia (HP:0002451)2.34723306
52Abnormality of the corticospinal tract (HP:0002492)2.34527483
53Pheochromocytoma (HP:0002666)2.34085654
54Neurofibrillary tangles (HP:0002185)2.33564536
55Torticollis (HP:0000473)2.30179293
56Papilledema (HP:0001085)2.29868374
57Distal lower limb amyotrophy (HP:0008944)2.29372562
58Sleep apnea (HP:0010535)2.29039495
59Inappropriate behavior (HP:0000719)2.28405234
60Cerebral hypomyelination (HP:0006808)2.27535674
61Hemiparesis (HP:0001269)2.26715100
62Status epilepticus (HP:0002133)2.26173686
63Abnormality of ocular smooth pursuit (HP:0000617)2.24114991
64Abnormality of the labia minora (HP:0012880)2.23371900
65Neuronal loss in central nervous system (HP:0002529)2.22074199
66EEG with generalized epileptiform discharges (HP:0011198)2.20623620
67Neuroendocrine neoplasm (HP:0100634)2.19752927
68Gait imbalance (HP:0002141)2.19125285
69Impaired vibratory sensation (HP:0002495)2.15997100
70Failure to thrive in infancy (HP:0001531)2.15548325
71Akinesia (HP:0002304)2.14998011
72Increased circulating renin level (HP:0000848)2.14582789
73Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.12223296
74Postural instability (HP:0002172)2.11246126
75Spinal canal stenosis (HP:0003416)2.09675286
76Protruding tongue (HP:0010808)2.09076312
77Bradykinesia (HP:0002067)2.07152061
78Megalencephaly (HP:0001355)2.06652187
79Abnormality of the periventricular white matter (HP:0002518)2.05988137
80Focal dystonia (HP:0004373)2.05790352
81Annular pancreas (HP:0001734)2.04883648
82Scanning speech (HP:0002168)2.04344596
83Hypsarrhythmia (HP:0002521)2.02471809
84Urinary urgency (HP:0000012)2.01038136
85Hypoventilation (HP:0002791)2.00836879
86Morphological abnormality of the pyramidal tract (HP:0002062)1.99712469
87Type II lissencephaly (HP:0007260)1.98706197
88Clonus (HP:0002169)1.96435863
89Abnormal ciliary motility (HP:0012262)1.96056975
90J-shaped sella turcica (HP:0002680)1.96048720
91Decreased central vision (HP:0007663)1.95916463
92Absent/shortened dynein arms (HP:0200106)1.95020751
93Dynein arm defect of respiratory motile cilia (HP:0012255)1.95020751
94Insidious onset (HP:0003587)1.94591002
95Termporal pattern (HP:0011008)1.94591002
96Polyphagia (HP:0002591)1.91950263
97Incomplete penetrance (HP:0003829)1.91083120
98Medial flaring of the eyebrow (HP:0010747)1.90204908
99Abnormal respiratory motile cilium physiology (HP:0012261)1.89814087
100Heterochromia iridis (HP:0001100)1.88901976
101Absent speech (HP:0001344)1.88470789
102Cerebral inclusion bodies (HP:0100314)1.87388117
103Nephronophthisis (HP:0000090)1.86875565
104Abnormality of salivation (HP:0100755)1.83607772
105Genetic anticipation (HP:0003743)1.83021419
106Ventricular fibrillation (HP:0001663)1.82142760
107Craniofacial dystonia (HP:0012179)1.80063718
108Rapidly progressive (HP:0003678)1.79455606
109Obstructive sleep apnea (HP:0002870)1.77917172
110Retinal dysplasia (HP:0007973)1.77831931
111Abnormal drinking behavior (HP:0030082)1.77536045
112Polydipsia (HP:0001959)1.77536045
113Rigidity (HP:0002063)1.77508659
114Short chin (HP:0000331)1.77040322
115Abnormality of the lower motor neuron (HP:0002366)1.76868045
116Lower limb asymmetry (HP:0100559)1.76336227
117Protrusio acetabuli (HP:0003179)1.75807034
118Abnormal respiratory motile cilium morphology (HP:0005938)1.75473909
119Abnormal respiratory epithelium morphology (HP:0012253)1.75473909
120Split foot (HP:0001839)1.73811768
121Impaired pain sensation (HP:0007328)1.73745625
122Abnormality of pain sensation (HP:0010832)1.73745625
123True hermaphroditism (HP:0010459)1.73229462
124Neoplasm of the peripheral nervous system (HP:0100007)1.72414701
125Spastic gait (HP:0002064)1.72050062
126Postural tremor (HP:0002174)1.70519369
127Blue irides (HP:0000635)1.67998089
128Pancreatic fibrosis (HP:0100732)1.67556267
129Optic nerve hypoplasia (HP:0000609)1.67475906
130Dyskinesia (HP:0100660)1.66753330
131Tetraplegia (HP:0002445)1.66138146
132Buphthalmos (HP:0000557)1.65553972
133Lower limb muscle weakness (HP:0007340)1.64920129
134Gait ataxia (HP:0002066)1.63148023
135Iris hypopigmentation (HP:0007730)1.62867700
136Fetal akinesia sequence (HP:0001989)1.61308755

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.81011264
2NTRK33.67034714
3MAP3K43.29299163
4MAP3K123.24090824
5MAP3K93.22492136
6DAPK23.17856173
7MAP2K73.11108942
8CASK2.96772594
9RIPK42.71297810
10DAPK12.57565066
11CDK192.34774137
12ARAF2.28271146
13MINK12.27935689
14MAP2K42.24054064
15PNCK2.15803343
16CAMKK12.13825817
17PAK62.11605485
18PLK22.10817183
19PINK12.06082130
20CCNB11.98818786
21KSR21.79295136
22CAMKK21.69428814
23NTRK11.55540045
24GRK51.52163489
25MARK11.50170549
26FES1.45287813
27CDK51.39982105
28PTK2B1.32892955
29TNIK1.31485543
30STK391.28904417
31NTRK21.28753042
32RAF11.27449123
33SIK21.25035506
34PHKG21.19543738
35PHKG11.19543738
36FRK1.18875960
37PRKD31.11575790
38KSR11.10796898
39BMPR1B1.09674374
40WNK41.08469127
41WNK31.06650462
42DAPK31.02710528
43PKN21.02582869
44MAP3K130.95770641
45CAMK2A0.95357322
46PRPF4B0.94817605
47PRKCG0.94123990
48PKN10.93953097
49DYRK1A0.93309687
50MAPKAPK50.92174337
51TRIB30.91976210
52PAK30.91734156
53CDK180.90698046
54CDK150.88513635
55FGR0.88479924
56CDK140.85070949
57MAPK130.83236203
58RET0.82184609
59CAMK10.80600242
60TAOK10.79157340
61CDK11A0.76662861
62CAMK2G0.72822823
63PRKCH0.71482687
64MOS0.71237933
65MAP4K20.71078717
66OXSR10.69641082
67MYLK0.67948545
68DDR20.67310666
69MAP2K10.65365271
70FGFR20.64781417
71LATS20.63485524
72PRKCE0.63342509
73CAMK2D0.63000163
74PIK3CA0.62869135
75PDPK10.62273258
76PDK10.61659259
77CAMK2B0.60070497
78TNK20.59714453
79BRAF0.58525175
80PIM20.58347137
81INSRR0.58094545
82PRKCZ0.57605107
83CSNK1G20.56673735
84FYN0.55562959
85ADRBK10.53985299
86MAPK150.53796020
87TYRO30.53769101
88SCYL20.53464280
89STK380.51858184
90SGK10.51814506
91BMPR20.51335474
92PRKG10.50873946
93NEK10.49951601
94SGK20.49500361
95UHMK10.49118457
96MAP3K20.48432937
97AKT30.48389492
98MUSK0.48346988
99DMPK0.48280396
100SGK30.46213107
101WNK10.45952208
102LMTK20.45718434
103STK110.45545197
104PRKCA0.45530160
105MAPK100.45222939
106SGK2230.44510620
107SGK4940.44510620
108FER0.44090727
109PRKACA0.43411155
110MAPK120.43152478
111PDK30.42386438
112PDK40.42386438
113NEK60.41737078
114ACVR1B0.41482529
115ERBB40.41398850
116CAMK1G0.40631088
117CAMK40.35164701
118TRIM280.34950321
119MARK20.34481058
120RIPK10.33573388
121DYRK20.33344197
122TAOK30.33309503
123GRK70.32485652
124BLK0.32429008
125RPS6KA30.32408183
126SIK30.31948208
127PRKG20.31663887
128CSNK1A10.31028720
129CLK10.30980518
130ADRBK20.30369739
131SRC0.30367324
132TTN0.29930344
133PRKCB0.29397044
134PDK20.28767368
135ALK0.28177787

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.74920031
2Nicotine addiction_Homo sapiens_hsa050333.52952691
3Collecting duct acid secretion_Homo sapiens_hsa049662.59217528
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.52901636
5Olfactory transduction_Homo sapiens_hsa047402.43497649
6Morphine addiction_Homo sapiens_hsa050322.42624764
7Circadian entrainment_Homo sapiens_hsa047132.40411491
8GABAergic synapse_Homo sapiens_hsa047272.39406077
9Long-term potentiation_Homo sapiens_hsa047202.31106578
10Glutamatergic synapse_Homo sapiens_hsa047242.16742927
11Amphetamine addiction_Homo sapiens_hsa050312.16456485
12Dopaminergic synapse_Homo sapiens_hsa047281.97464268
13Salivary secretion_Homo sapiens_hsa049701.92092730
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.69862601
15Cholinergic synapse_Homo sapiens_hsa047251.69804626
16Vibrio cholerae infection_Homo sapiens_hsa051101.62419197
17Renin secretion_Homo sapiens_hsa049241.61716479
18Oxytocin signaling pathway_Homo sapiens_hsa049211.60745818
19Insulin secretion_Homo sapiens_hsa049111.55935111
20Cocaine addiction_Homo sapiens_hsa050301.54702449
21Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.52463070
22Aldosterone synthesis and secretion_Homo sapiens_hsa049251.52257913
23* Serotonergic synapse_Homo sapiens_hsa047261.51845728
24Gastric acid secretion_Homo sapiens_hsa049711.50562674
25* Calcium signaling pathway_Homo sapiens_hsa040201.45754132
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.44075042
27Long-term depression_Homo sapiens_hsa047301.43295423
28Taste transduction_Homo sapiens_hsa047421.41815464
29Rheumatoid arthritis_Homo sapiens_hsa053231.35046820
30GnRH signaling pathway_Homo sapiens_hsa049121.26344631
31Vitamin B6 metabolism_Homo sapiens_hsa007501.25631896
32* Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.23006443
33* Gap junction_Homo sapiens_hsa045401.21317647
34Glioma_Homo sapiens_hsa052141.17085440
35cAMP signaling pathway_Homo sapiens_hsa040241.14621627
36ErbB signaling pathway_Homo sapiens_hsa040121.10139554
37Phagosome_Homo sapiens_hsa041451.08842679
38Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.08385096
39Type II diabetes mellitus_Homo sapiens_hsa049301.06023699
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.01530602
41Cardiac muscle contraction_Homo sapiens_hsa042601.01477448
42Estrogen signaling pathway_Homo sapiens_hsa049150.99887687
43Dilated cardiomyopathy_Homo sapiens_hsa054140.98974396
44cGMP-PKG signaling pathway_Homo sapiens_hsa040220.95249971
45Oxidative phosphorylation_Homo sapiens_hsa001900.91174156
46Nitrogen metabolism_Homo sapiens_hsa009100.90591304
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.89809661
48* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.89440461
49Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.88947714
50Phosphatidylinositol signaling system_Homo sapiens_hsa040700.87494829
51Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.86851684
52Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.85631825
53Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.84324663
54Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.84096290
55Type I diabetes mellitus_Homo sapiens_hsa049400.84082886
56Butanoate metabolism_Homo sapiens_hsa006500.79695403
57Tuberculosis_Homo sapiens_hsa051520.77956885
58Alzheimers disease_Homo sapiens_hsa050100.77617563
59Neurotrophin signaling pathway_Homo sapiens_hsa047220.76239695
60MAPK signaling pathway_Homo sapiens_hsa040100.75969787
61African trypanosomiasis_Homo sapiens_hsa051430.74650522
62Rap1 signaling pathway_Homo sapiens_hsa040150.73391571
63Axon guidance_Homo sapiens_hsa043600.71879795
64Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.71743576
65Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.70112186
66Phospholipase D signaling pathway_Homo sapiens_hsa040720.69981307
67Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.69570376
68Salmonella infection_Homo sapiens_hsa051320.68050172
69Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.67727091
70Bile secretion_Homo sapiens_hsa049760.67269530
71Melanogenesis_Homo sapiens_hsa049160.66996451
72VEGF signaling pathway_Homo sapiens_hsa043700.65952174
73Dorso-ventral axis formation_Homo sapiens_hsa043200.65565090
74Ras signaling pathway_Homo sapiens_hsa040140.64810379
75Sphingolipid signaling pathway_Homo sapiens_hsa040710.61794189
76Platelet activation_Homo sapiens_hsa046110.61468766
77Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.61275008
78Parkinsons disease_Homo sapiens_hsa050120.60443670
79Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.59869624
80Circadian rhythm_Homo sapiens_hsa047100.59684579
81Carbohydrate digestion and absorption_Homo sapiens_hsa049730.57102371
82Alcoholism_Homo sapiens_hsa050340.56726622
83Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.56267635
84Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.55041819
85Shigellosis_Homo sapiens_hsa051310.52329326
86Endocytosis_Homo sapiens_hsa041440.51154231
87Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.50983337
88AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.50922288
89Chemokine signaling pathway_Homo sapiens_hsa040620.50652869
90Mineral absorption_Homo sapiens_hsa049780.50103402
91Melanoma_Homo sapiens_hsa052180.49969353
92Pancreatic secretion_Homo sapiens_hsa049720.49897754
93Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.49801735
94Oocyte meiosis_Homo sapiens_hsa041140.48472749
95SNARE interactions in vesicular transport_Homo sapiens_hsa041300.48331165
96Renal cell carcinoma_Homo sapiens_hsa052110.46761174
97Thyroid hormone synthesis_Homo sapiens_hsa049180.46484221
98Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.46227680
99Amoebiasis_Homo sapiens_hsa051460.45915800
100Regulation of actin cytoskeleton_Homo sapiens_hsa048100.45897883
101Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.45338902
102Choline metabolism in cancer_Homo sapiens_hsa052310.43974277
103Ovarian steroidogenesis_Homo sapiens_hsa049130.43635156
104Non-small cell lung cancer_Homo sapiens_hsa052230.43243337
105Fatty acid biosynthesis_Homo sapiens_hsa000610.42750935
106Osteoclast differentiation_Homo sapiens_hsa043800.41409285
107beta-Alanine metabolism_Homo sapiens_hsa004100.40766833
108Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.40282834
109Pertussis_Homo sapiens_hsa051330.40207151
110Phototransduction_Homo sapiens_hsa047440.39740060
111Prion diseases_Homo sapiens_hsa050200.39546563
112Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.39507933
113Histidine metabolism_Homo sapiens_hsa003400.39063605
114Inositol phosphate metabolism_Homo sapiens_hsa005620.38438591
115Colorectal cancer_Homo sapiens_hsa052100.38185080
116Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.37602701
117Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.36306926
118HIF-1 signaling pathway_Homo sapiens_hsa040660.36092317
119Glucagon signaling pathway_Homo sapiens_hsa049220.31540559
120Primary bile acid biosynthesis_Homo sapiens_hsa001200.31254498
121Huntingtons disease_Homo sapiens_hsa050160.29576998
122Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.29206767
123Arginine and proline metabolism_Homo sapiens_hsa003300.28304930
124Linoleic acid metabolism_Homo sapiens_hsa005910.28149374
125Wnt signaling pathway_Homo sapiens_hsa043100.27472939
126Regulation of autophagy_Homo sapiens_hsa041400.26131571
127Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.25785242
128Ether lipid metabolism_Homo sapiens_hsa005650.25583353
129ABC transporters_Homo sapiens_hsa020100.20767599

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