AMPH

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 associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.05709207
2synaptic vesicle exocytosis (GO:0016079)5.80831166
3synaptic vesicle maturation (GO:0016188)5.68354697
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.43202183
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.29936905
6vocalization behavior (GO:0071625)5.24713549
7protein localization to synapse (GO:0035418)5.19657796
8glutamate secretion (GO:0014047)5.15518112
9regulation of synaptic vesicle exocytosis (GO:2000300)5.11631901
10locomotory exploration behavior (GO:0035641)5.01714742
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.97048160
12synaptic vesicle docking involved in exocytosis (GO:0016081)4.78723178
13neuron cell-cell adhesion (GO:0007158)4.78394812
14regulation of glutamate receptor signaling pathway (GO:1900449)4.53492989
15regulation of synaptic vesicle transport (GO:1902803)4.45558723
16ionotropic glutamate receptor signaling pathway (GO:0035235)4.41396315
17neurotransmitter secretion (GO:0007269)4.34988828
18exploration behavior (GO:0035640)4.30065318
19glutamate receptor signaling pathway (GO:0007215)4.22460262
20pyrimidine nucleobase catabolic process (GO:0006208)4.19176743
21synaptic transmission, glutamatergic (GO:0035249)4.18627084
22neuronal action potential propagation (GO:0019227)4.17502166
23positive regulation of synapse maturation (GO:0090129)4.16832130
24layer formation in cerebral cortex (GO:0021819)4.13755352
25cellular potassium ion homeostasis (GO:0030007)4.12297997
26regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.11888712
27regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.10244895
28neuron-neuron synaptic transmission (GO:0007270)4.05883938
29regulation of neuronal synaptic plasticity (GO:0048168)4.04748103
30neurotransmitter-gated ion channel clustering (GO:0072578)4.04714743
31gamma-aminobutyric acid signaling pathway (GO:0007214)4.02158401
32neuronal ion channel clustering (GO:0045161)3.98550503
33regulation of long-term neuronal synaptic plasticity (GO:0048169)3.95285432
34establishment of mitochondrion localization (GO:0051654)3.84438306
35regulation of synapse structural plasticity (GO:0051823)3.83382273
36long-term memory (GO:0007616)3.80300072
37G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.75744273
38response to pheromone (GO:0019236)3.75511168
39neuron recognition (GO:0008038)3.72778552
40gamma-aminobutyric acid transport (GO:0015812)3.67161511
41neurotransmitter transport (GO:0006836)3.65691231
42sodium ion export (GO:0071436)3.65396444
43dendritic spine morphogenesis (GO:0060997)3.64857921
44regulation of excitatory postsynaptic membrane potential (GO:0060079)3.63857713
45positive regulation of membrane potential (GO:0045838)3.61887421
46mechanosensory behavior (GO:0007638)3.61251627
47nucleobase catabolic process (GO:0046113)3.59229920
48regulation of postsynaptic membrane potential (GO:0060078)3.58430126
49regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.58353776
50regulation of neurotransmitter secretion (GO:0046928)3.56167133
51innervation (GO:0060384)3.53794658
52membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.53459048
53cerebellar Purkinje cell differentiation (GO:0021702)3.48243511
54* synaptic vesicle endocytosis (GO:0048488)3.44574322
55positive regulation of synaptic transmission, GABAergic (GO:0032230)3.43186749
56negative regulation of synaptic transmission, GABAergic (GO:0032229)3.42902643
57proline transport (GO:0015824)3.42316299
58presynaptic membrane assembly (GO:0097105)3.40408369
59long-term synaptic potentiation (GO:0060291)3.37620598
60postsynaptic membrane organization (GO:0001941)3.37421465
61cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.37156089
62axonal fasciculation (GO:0007413)3.36799006
63presynaptic membrane organization (GO:0097090)3.35429864
64membrane hyperpolarization (GO:0060081)3.33957020
65positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.33605014
66regulation of synaptic transmission, glutamatergic (GO:0051966)3.33370411
67regulation of synaptic plasticity (GO:0048167)3.31821665
68activation of protein kinase A activity (GO:0034199)3.29496676
69regulation of neurotransmitter levels (GO:0001505)3.27213911
70regulation of synapse maturation (GO:0090128)3.27177315
71regulation of vesicle fusion (GO:0031338)3.27130895
72transmission of nerve impulse (GO:0019226)3.26210793
73regulation of neurotransmitter transport (GO:0051588)3.25953258
74regulation of dendritic spine morphogenesis (GO:0061001)3.23872049
75dendrite morphogenesis (GO:0048813)3.20393294
76L-amino acid import (GO:0043092)3.19886879
77positive regulation of synapse assembly (GO:0051965)3.17890461
78cell communication by electrical coupling (GO:0010644)3.17500863
79positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.16976845
80cell migration in hindbrain (GO:0021535)3.16807787
81behavioral fear response (GO:0001662)3.15906784
82behavioral defense response (GO:0002209)3.15906784
83negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.15415951
84cerebellar granule cell differentiation (GO:0021707)3.15315848
85positive regulation of dendritic spine morphogenesis (GO:0061003)3.14794361
86synapse assembly (GO:0007416)3.14324078
87regulation of voltage-gated calcium channel activity (GO:1901385)3.13516244
88membrane depolarization during action potential (GO:0086010)3.12783754
89neurofilament cytoskeleton organization (GO:0060052)3.12181605
90mating behavior (GO:0007617)3.11008523
91membrane depolarization (GO:0051899)3.09252309
92neuromuscular synaptic transmission (GO:0007274)3.08769574
93dendritic spine organization (GO:0097061)3.07152932
94regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.06221702
95neuromuscular process controlling posture (GO:0050884)3.05276668
96neuromuscular process controlling balance (GO:0050885)3.03234137
97positive regulation of neurotransmitter secretion (GO:0001956)3.02799069
98axon ensheathment in central nervous system (GO:0032291)3.00845390
99central nervous system myelination (GO:0022010)3.00845390
100* synaptic transmission (GO:0007268)3.00642325
101potassium ion homeostasis (GO:0055075)2.98069978
102fear response (GO:0042596)2.97629112
103positive regulation of dendritic spine development (GO:0060999)2.97219853
104adult walking behavior (GO:0007628)2.97207186
105positive regulation of neurotransmitter transport (GO:0051590)2.97195637
106startle response (GO:0001964)2.96623551
107* establishment of synaptic vesicle localization (GO:0097480)2.96617369
108* synaptic vesicle transport (GO:0048489)2.96617369
109central nervous system projection neuron axonogenesis (GO:0021952)2.96370006
110positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.95221029
111response to auditory stimulus (GO:0010996)2.95216620
112potassium ion import (GO:0010107)2.95126358
113* learning (GO:0007612)2.94964608
114retinal cone cell development (GO:0046549)2.94482305
115response to histamine (GO:0034776)2.92427115
116auditory behavior (GO:0031223)2.91685418
117regulation of synaptic transmission (GO:0050804)2.91493445
118positive regulation of synaptic transmission (GO:0050806)2.91300496
119regulation of dendritic spine development (GO:0060998)2.88817982
120mitochondrion transport along microtubule (GO:0047497)2.87697696
121establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.87697696
122behavioral response to cocaine (GO:0048148)2.86547551
123C4-dicarboxylate transport (GO:0015740)2.86185318

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.46057058
2GBX2_23144817_ChIP-Seq_PC3_Human3.92358826
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.14482752
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.07270520
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.05932772
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.81555719
7JARID2_20075857_ChIP-Seq_MESCs_Mouse2.68350630
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.67937303
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.67937303
10EZH2_27304074_Chip-Seq_ESCs_Mouse2.60344768
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.55731506
12SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.53669204
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.51160492
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.49384866
15DROSHA_22980978_ChIP-Seq_HELA_Human2.47838145
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.39246119
17EZH2_27294783_Chip-Seq_ESCs_Mouse2.34981895
18RARB_27405468_Chip-Seq_BRAIN_Mouse2.34193725
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.32055201
20REST_18959480_ChIP-ChIP_MESCs_Mouse2.31769157
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.30489552
22GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.25745079
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.22028821
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.19992673
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.12097555
26NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.07853667
27CTBP2_25329375_ChIP-Seq_LNCAP_Human1.92603274
28AR_21572438_ChIP-Seq_LNCaP_Human1.91966554
29IKZF1_21737484_ChIP-ChIP_HCT116_Human1.91195852
30TAF15_26573619_Chip-Seq_HEK293_Human1.80089342
31* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.77159396
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.70424152
33EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.69382069
34* SMAD4_21799915_ChIP-Seq_A2780_Human1.66538831
35ZFP57_27257070_Chip-Seq_ESCs_Mouse1.62146379
36MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.55373484
37PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.54448271
38BMI1_23680149_ChIP-Seq_NPCS_Mouse1.47893605
39TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.47231261
40P300_19829295_ChIP-Seq_ESCs_Human1.44892123
41CBX2_27304074_Chip-Seq_ESCs_Mouse1.43008517
42PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.42899897
43ERG_21242973_ChIP-ChIP_JURKAT_Human1.42678216
44ZNF274_21170338_ChIP-Seq_K562_Hela1.40747852
45RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.39634698
46HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.36713393
47IGF1R_20145208_ChIP-Seq_DFB_Human1.36033858
48GATA1_26923725_Chip-Seq_HPCs_Mouse1.34534330
49* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.32335306
50SMAD3_21741376_ChIP-Seq_EPCs_Human1.32241187
51RING1B_27294783_Chip-Seq_ESCs_Mouse1.30973899
52* SOX2_21211035_ChIP-Seq_LN229_Gbm1.30428619
53SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30018686
54GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.27787407
55NR3C1_23031785_ChIP-Seq_PC12_Mouse1.27109146
56TOP2B_26459242_ChIP-Seq_MCF-7_Human1.25858203
57* AR_25329375_ChIP-Seq_VCAP_Human1.25377224
58RNF2_27304074_Chip-Seq_NSC_Mouse1.25352495
59* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.24723960
60* STAT3_23295773_ChIP-Seq_U87_Human1.24712148
61* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23578812
62P53_22127205_ChIP-Seq_FIBROBLAST_Human1.22967959
63PIAS1_25552417_ChIP-Seq_VCAP_Human1.21242175
64* AR_19668381_ChIP-Seq_PC3_Human1.20525749
65TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.18008662
66MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.17392314
67VDR_22108803_ChIP-Seq_LS180_Human1.15657109
68FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.13952413
69CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.13570353
70SMAD_19615063_ChIP-ChIP_OVARY_Human1.11979573
71RING1B_27294783_Chip-Seq_NPCs_Mouse1.11919020
72* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.11566999
73* TCF4_23295773_ChIP-Seq_U87_Human1.09145988
74DNAJC2_21179169_ChIP-ChIP_NT2_Human1.08647536
75FUS_26573619_Chip-Seq_HEK293_Human1.07518880
76* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.07500571
77MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.06903155
78MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.05199962
79* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.04997921
80LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04074538
81CDX2_19796622_ChIP-Seq_MESCs_Mouse1.02642974
82ARNT_22903824_ChIP-Seq_MCF-7_Human1.02363909
83SOX9_26525672_Chip-Seq_HEART_Mouse1.01699694
84PRDM14_20953172_ChIP-Seq_ESCs_Human1.01511159
85AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.01418091
86VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.01296299
87NANOG_18555785_Chip-Seq_ESCs_Mouse0.99712596
88KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.99136746
89OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.99016496
90UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.98336706
91ER_23166858_ChIP-Seq_MCF-7_Human0.97618224
92SMAD3_21741376_ChIP-Seq_ESCs_Human0.96351669
93AHR_22903824_ChIP-Seq_MCF-7_Human0.96173444
94CBP_20019798_ChIP-Seq_JUKART_Human0.95858595
95IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.95858595
96TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95607146
97RUNX2_22187159_ChIP-Seq_PCA_Human0.95415256
98RBPJ_22232070_ChIP-Seq_NCS_Mouse0.95286623
99SMAD4_21741376_ChIP-Seq_HESCs_Human0.92920215
100ZNF217_24962896_ChIP-Seq_MCF-7_Human0.91950698
101TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.91645698
102TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90598769
103POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.90598769
104KDM2B_26808549_Chip-Seq_REH_Human0.90492965
105NR3C1_21868756_ChIP-Seq_MCF10A_Human0.90093464
106* ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.89780582
107RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.89716802
108* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.89613797
109BCAT_22108803_ChIP-Seq_LS180_Human0.89425880
110CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89349955
111* FLI1_21867929_ChIP-Seq_TH2_Mouse0.87943486
112EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.87516840
113TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.87291760
114JUN_21703547_ChIP-Seq_K562_Human0.87228369
115ZFP281_18757296_ChIP-ChIP_E14_Mouse0.86913550
116SMAD3_21741376_ChIP-Seq_HESCs_Human0.86722935
117STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.85691209
118CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.84961344

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.86109116
2MP0003880_abnormal_central_pattern4.63229259
3MP0003635_abnormal_synaptic_transmissio3.96622866
4MP0004270_analgesia3.67890075
5* MP0002063_abnormal_learning/memory/cond3.16934646
6* MP0009745_abnormal_behavioral_response3.15559985
7MP0009046_muscle_twitch3.12559018
8* MP0002064_seizures3.07220689
9MP0005423_abnormal_somatic_nervous2.96953443
10MP0001968_abnormal_touch/_nociception2.96841017
11MP0002734_abnormal_mechanical_nocicepti2.77197142
12MP0002272_abnormal_nervous_system2.72720774
13MP0002572_abnormal_emotion/affect_behav2.70732994
14MP0001486_abnormal_startle_reflex2.61414277
15MP0002735_abnormal_chemical_nociception2.56642086
16MP0002736_abnormal_nociception_after2.39213508
17MP0005551_abnormal_eye_electrophysiolog2.16769489
18MP0001501_abnormal_sleep_pattern2.10029369
19MP0001440_abnormal_grooming_behavior2.08713942
20MP0002067_abnormal_sensory_capabilities2.06582894
21MP0001970_abnormal_pain_threshold2.00027917
22MP0002184_abnormal_innervation1.99893316
23MP0002733_abnormal_thermal_nociception1.99693447
24MP0000778_abnormal_nervous_system1.98090009
25MP0002822_catalepsy1.92487314
26MP0003329_amyloid_beta_deposits1.91723823
27MP0001984_abnormal_olfaction1.87495555
28MP0008569_lethality_at_weaning1.83387119
29MP0009780_abnormal_chondrocyte_physiolo1.74374644
30MP0006276_abnormal_autonomic_nervous1.71974865
31MP0002557_abnormal_social/conspecific_i1.70470371
32MP0000955_abnormal_spinal_cord1.67414033
33* MP0004811_abnormal_neuron_physiology1.66340036
34MP0005386_behavior/neurological_phenoty1.65597899
35MP0004924_abnormal_behavior1.65597899
36MP0004858_abnormal_nervous_system1.64238672
37MP0003121_genomic_imprinting1.64153629
38MP0002882_abnormal_neuron_morphology1.61145071
39MP0001502_abnormal_circadian_rhythm1.54219127
40MP0004885_abnormal_endolymph1.53933011
41MP0003879_abnormal_hair_cell1.51877358
42MP0008877_abnormal_DNA_methylation1.51189389
43MP0004142_abnormal_muscle_tone1.44628033
44MP0002066_abnormal_motor_capabilities/c1.44357530
45MP0005646_abnormal_pituitary_gland1.44163547
46MP0001529_abnormal_vocalization1.42303481
47MP0002909_abnormal_adrenal_gland1.40139753
48MP0005645_abnormal_hypothalamus_physiol1.39707468
49MP0006072_abnormal_retinal_apoptosis1.38511812
50MP0002229_neurodegeneration1.32484038
51MP0002102_abnormal_ear_morphology1.32225026
52MP0010386_abnormal_urinary_bladder1.31080951
53MP0003787_abnormal_imprinting1.30413476
54MP0003122_maternal_imprinting1.30097387
55MP0002090_abnormal_vision1.28115923
56MP0003633_abnormal_nervous_system1.27653222
57MP0001905_abnormal_dopamine_level1.26202506
58MP0004145_abnormal_muscle_electrophysio1.19854949
59MP0002152_abnormal_brain_morphology1.15891358
60MP0003123_paternal_imprinting1.15618461
61MP0001188_hyperpigmentation1.15070068
62MP0004742_abnormal_vestibular_system1.14736450
63MP0003631_nervous_system_phenotype1.13820567
64MP0005253_abnormal_eye_physiology1.11790005
65MP0002752_abnormal_somatic_nervous1.10757667
66MP0008789_abnormal_olfactory_epithelium1.05864917
67MP0003634_abnormal_glial_cell1.05472460
68MP0000751_myopathy1.01249769
69MP0000920_abnormal_myelination1.00676053
70MP0004233_abnormal_muscle_weight0.99636851
71MP0005499_abnormal_olfactory_system0.99162788
72MP0005394_taste/olfaction_phenotype0.99162788
73MP0000631_abnormal_neuroendocrine_gland0.97576260
74MP0001963_abnormal_hearing_physiology0.96549981
75MP0002638_abnormal_pupillary_reflex0.93148748
76MP0002069_abnormal_eating/drinking_beha0.92145153
77MP0003632_abnormal_nervous_system0.91066483
78MP0005187_abnormal_penis_morphology0.88784292
79MP0008872_abnormal_physiological_respon0.86994259
80MP0004133_heterotaxia0.83854442
81MP0001177_atelectasis0.82006024
82MP0005195_abnormal_posterior_eye0.81949258
83MP0004085_abnormal_heartbeat0.81738412
84MP0004215_abnormal_myocardial_fiber0.81341957
85MP0000566_synostosis0.80078960
86MP0000604_amyloidosis0.77704631
87MP0001299_abnormal_eye_distance/0.76466184
88MP0003938_abnormal_ear_development0.76267369
89MP0004147_increased_porphyrin_level0.74937756
90MP0003137_abnormal_impulse_conducting0.73968136
91MP0002837_dystrophic_cardiac_calcinosis0.72955787
92MP0001485_abnormal_pinna_reflex0.70817288
93MP0003690_abnormal_glial_cell0.70690219
94MP0001986_abnormal_taste_sensitivity0.70324607
95MP0000013_abnormal_adipose_tissue0.70153186
96MP0003890_abnormal_embryonic-extraembry0.69461922
97MP0008874_decreased_physiological_sensi0.68814861
98MP0005535_abnormal_body_temperature0.67791028
99MP0003283_abnormal_digestive_organ0.65498458
100MP0003119_abnormal_digestive_system0.64777874
101MP0000049_abnormal_middle_ear0.64481079
102MP0002751_abnormal_autonomic_nervous0.63875773
103MP0003861_abnormal_nervous_system0.63756636
104MP0004043_abnormal_pH_regulation0.62413154
105MP0005623_abnormal_meninges_morphology0.62026244
106MP0000026_abnormal_inner_ear0.60705149
107MP0001664_abnormal_digestion0.59619385
108MP0002653_abnormal_ependyma_morphology0.59530657
109MP0001943_abnormal_respiration0.56748303
110MP0008961_abnormal_basal_metabolism0.55495935
111MP0006292_abnormal_olfactory_placode0.55108315
112MP0000569_abnormal_digit_pigmentation0.54796128
113MP0010769_abnormal_survival0.54659517
114MP0002082_postnatal_lethality0.53510821
115MP0010770_preweaning_lethality0.53510821
116MP0002234_abnormal_pharynx_morphology0.52099770

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.72718904
2Myokymia (HP:0002411)6.42253740
3Visual hallucinations (HP:0002367)5.19323414
4Focal seizures (HP:0007359)5.16729275
5Epileptic encephalopathy (HP:0200134)5.15466131
6Progressive cerebellar ataxia (HP:0002073)4.59760521
7Febrile seizures (HP:0002373)4.57309067
8Atonic seizures (HP:0010819)4.46601207
9Absence seizures (HP:0002121)4.17627019
10Dialeptic seizures (HP:0011146)3.78790505
11Action tremor (HP:0002345)3.73282120
12Supranuclear gaze palsy (HP:0000605)3.72029198
13Generalized tonic-clonic seizures (HP:0002069)3.58365113
14Congenital stationary night blindness (HP:0007642)3.51960394
15Ankle clonus (HP:0011448)3.32772856
16Gaze-evoked nystagmus (HP:0000640)3.25056009
17Dysdiadochokinesis (HP:0002075)3.22338214
18Mutism (HP:0002300)3.17986750
19Broad-based gait (HP:0002136)3.16116402
20Dysmetria (HP:0001310)3.04952793
21Truncal ataxia (HP:0002078)3.03557086
22Depression (HP:0000716)3.03378136
23Central scotoma (HP:0000603)2.94244911
24Urinary bladder sphincter dysfunction (HP:0002839)2.92510076
25Neurofibrillary tangles (HP:0002185)2.92083420
26Hyperventilation (HP:0002883)2.90808674
27Abnormal eating behavior (HP:0100738)2.89498149
28Impaired vibration sensation in the lower limbs (HP:0002166)2.86853374
29Poor eye contact (HP:0000817)2.80933117
30Cerebral inclusion bodies (HP:0100314)2.80081875
31Amblyopia (HP:0000646)2.79508624
32Hemiparesis (HP:0001269)2.71565389
33Spastic gait (HP:0002064)2.71547960
34Scanning speech (HP:0002168)2.70393154
35Epileptiform EEG discharges (HP:0011182)2.66184990
36Anxiety (HP:0000739)2.65929002
37Drooling (HP:0002307)2.65051551
38Excessive salivation (HP:0003781)2.65051551
39Genetic anticipation (HP:0003743)2.63290383
40Abnormality of the labia minora (HP:0012880)2.63269784
41Pheochromocytoma (HP:0002666)2.60712263
42Sleep apnea (HP:0010535)2.60661627
43Abnormality of binocular vision (HP:0011514)2.60401312
44Diplopia (HP:0000651)2.60401312
45Abnormality of the corticospinal tract (HP:0002492)2.60195882
46EEG with generalized epileptiform discharges (HP:0011198)2.59510570
47Abnormality of macular pigmentation (HP:0008002)2.57002065
48Abnormality of the lower motor neuron (HP:0002366)2.56504452
49Impaired social interactions (HP:0000735)2.55663798
50Abnormal social behavior (HP:0012433)2.55663798
51Postural instability (HP:0002172)2.53828744
52Peripheral hypomyelination (HP:0007182)2.47007466
53Urinary urgency (HP:0000012)2.44610501
54Termporal pattern (HP:0011008)2.44068663
55Insidious onset (HP:0003587)2.44068663
56Polyphagia (HP:0002591)2.43983656
57Progressive inability to walk (HP:0002505)2.42007388
58Intention tremor (HP:0002080)2.41471762
59Limb dystonia (HP:0002451)2.40556745
60Hypsarrhythmia (HP:0002521)2.35541202
61Impaired smooth pursuit (HP:0007772)2.34353538
62Absent speech (HP:0001344)2.34123566
63Optic nerve hypoplasia (HP:0000609)2.33238851
64Gait imbalance (HP:0002141)2.32919892
65Morphological abnormality of the pyramidal tract (HP:0002062)2.29628639
66Cerebral hypomyelination (HP:0006808)2.28123170
67Megalencephaly (HP:0001355)2.24715984
68Fetal akinesia sequence (HP:0001989)2.24593985
69Neuroendocrine neoplasm (HP:0100634)2.23454218
70Bradykinesia (HP:0002067)2.22568976
71Lower limb muscle weakness (HP:0007340)2.17620128
72Torticollis (HP:0000473)2.17191604
73Abnormality of ocular smooth pursuit (HP:0000617)2.15839028
74Lissencephaly (HP:0001339)2.15359067
75Spastic tetraplegia (HP:0002510)2.11439011
76Generalized myoclonic seizures (HP:0002123)2.10659713
77Nephrogenic diabetes insipidus (HP:0009806)2.09737330
78Hemiplegia (HP:0002301)2.06823439
79Ulnar claw (HP:0001178)2.06627718
80Inability to walk (HP:0002540)2.06393511
81Focal dystonia (HP:0004373)2.06018526
82Type II lissencephaly (HP:0007260)2.05463820
83Papilledema (HP:0001085)2.03372811
84Genital tract atresia (HP:0001827)2.01910496
85Specific learning disability (HP:0001328)2.01253304
86Vaginal atresia (HP:0000148)2.00879131
87Akinesia (HP:0002304)1.99919165
88CNS hypomyelination (HP:0003429)1.98751120
89Scotoma (HP:0000575)1.98702846
90Delusions (HP:0000746)1.98011879
91Impaired vibratory sensation (HP:0002495)1.96636627
92Stereotypic behavior (HP:0000733)1.96451378
93Agitation (HP:0000713)1.96164638
94Amyotrophic lateral sclerosis (HP:0007354)1.96075399
95Split foot (HP:0001839)1.92963035
96Gait ataxia (HP:0002066)1.92445355
97Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.92046333
98Ventricular fibrillation (HP:0001663)1.91493899
99Retinal dysplasia (HP:0007973)1.91119513
100Nephronophthisis (HP:0000090)1.90926482
101Abnormal rod and cone electroretinograms (HP:0008323)1.90245994
102Hypoplasia of the brainstem (HP:0002365)1.89464118
103Aplasia/Hypoplasia of the brainstem (HP:0007362)1.89464118
104Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.88831185
105Degeneration of the lateral corticospinal tracts (HP:0002314)1.88831185
106Poor suck (HP:0002033)1.87374006
107Dysmetric saccades (HP:0000641)1.87324560
108Neuronal loss in central nervous system (HP:0002529)1.87154471
109Status epilepticus (HP:0002133)1.86918343
110Decreased central vision (HP:0007663)1.85812550
111Congenital primary aphakia (HP:0007707)1.85535161
112Failure to thrive in infancy (HP:0001531)1.85142365
113Incomplete penetrance (HP:0003829)1.82828063
114Clonus (HP:0002169)1.81380622
115Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.81150754
116True hermaphroditism (HP:0010459)1.79694360
117Abnormal hair whorl (HP:0010721)1.79165055
118Craniofacial dystonia (HP:0012179)1.78380993
119Abnormality of midbrain morphology (HP:0002418)1.78291859
120Molar tooth sign on MRI (HP:0002419)1.78291859
121Pancreatic fibrosis (HP:0100732)1.77769029
122Medial flaring of the eyebrow (HP:0010747)1.77722405
123Hypoventilation (HP:0002791)1.77100381
124Abnormality of salivation (HP:0100755)1.75632902
125Dyskinesia (HP:0100660)1.72084545

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.97967858
2MAP3K93.70691881
3MARK13.70365016
4EPHA43.25326512
5MAP3K43.04722073
6MINK12.86774111
7MAP2K72.52842236
8PAK62.50375858
9CASK2.40026940
10PRPF4B2.33299254
11DAPK22.19242432
12NTRK22.01718931
13MAP3K121.95095432
14KSR21.89961868
15NTRK11.81628391
16MAP2K41.80672831
17PRKD31.70567407
18PLK21.64010202
19CDK191.60659430
20TNIK1.57156139
21GRK51.57054590
22KSR11.56581070
23CAMKK11.50722084
24PNCK1.48579534
25* CDK51.48135497
26MAPK131.45410793
27PHKG21.40694425
28PHKG11.40694425
29TRIM281.33151253
30DAPK11.31859194
31UHMK11.31635758
32PRKCG1.29497655
33MAP4K21.28735878
34ARAF1.27273348
35STK381.27189185
36RIPK41.23456155
37OXSR11.18310154
38SIK21.12124418
39FES1.09413863
40SGK2231.08825041
41SGK4941.08825041
42CAMK2A1.04393177
43MAP3K131.01815089
44TYRO30.96881225
45CAMKK20.96631356
46PAK30.91783213
47LATS20.91617177
48* CDK140.89273300
49CAMK2B0.87748314
50* CDK180.87049678
51MAP3K20.85181858
52* CDK150.83892860
53CSNK1A1L0.83552017
54CAMK10.83116519
55CSNK1G20.80149423
56CSNK1G10.79102879
57BMPR1B0.76743525
58NEK10.76667708
59NME10.76162757
60STK110.73499599
61MARK20.73014070
62PINK10.72235720
63* CDK11A0.71638695
64STK390.71418932
65FGFR20.71235252
66CAMK2D0.70884610
67CAMK40.69882893
68BCR0.68946010
69LMTK20.68166124
70TNK20.68072163
71PTK2B0.67120099
72PRKCH0.66419540
73RET0.65850292
74PRKCE0.64202404
75PKN10.63263793
76WNK10.61844991
77SGK20.60887922
78BRSK10.60690266
79SGK10.60499190
80RAF10.60365029
81FER0.59689704
82ROCK20.59373410
83CCNB10.58792466
84* DYRK1A0.58749971
85PRKCZ0.56405503
86FRK0.54695407
87FGR0.54442970
88BMPR20.54349570
89TAOK10.53510079
90INSRR0.53116620
91WNK30.51152296
92CAMK2G0.49708660
93DYRK30.48220200
94AKT30.48214032
95RPS6KA30.46760012
96EPHB20.46751432
97NEK60.46689350
98FYN0.46271657
99SIK30.45771602
100MAP3K110.45509247
101CAMK1G0.45255949
102PDK10.44415245
103LIMK10.44281516
104MAP3K10.43910755
105SGK30.43618063
106CSNK1D0.43592475
107PRKACA0.43464843
108ALK0.42264033
109WNK40.42235461
110CSNK1E0.41522715
111PRKG10.41424603
112CDC42BPA0.41222059
113DYRK20.41057885
114CSNK1G30.39970900
115ERBB20.39922300
116PDPK10.39319069
117* MAPK100.38974424
118CSNK1A10.38690179
119MAP3K70.37814756
120ADRBK20.36235416
121ERBB30.36218761
122EPHA30.34630403
123PRKACB0.32608510
124PRKCA0.32436367
125PRKAA10.30130982
126PRKCB0.27963009

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.02721938
2Synaptic vesicle cycle_Homo sapiens_hsa047213.70327215
3GABAergic synapse_Homo sapiens_hsa047273.02038233
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.91832503
5Circadian entrainment_Homo sapiens_hsa047132.76612308
6Morphine addiction_Homo sapiens_hsa050322.67942541
7Glutamatergic synapse_Homo sapiens_hsa047242.59432609
8Olfactory transduction_Homo sapiens_hsa047402.54820646
9Long-term potentiation_Homo sapiens_hsa047202.43088100
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.23260513
11Amphetamine addiction_Homo sapiens_hsa050312.16679389
12Salivary secretion_Homo sapiens_hsa049702.14429063
13Dopaminergic synapse_Homo sapiens_hsa047282.14126007
14Insulin secretion_Homo sapiens_hsa049112.04883339
15Cholinergic synapse_Homo sapiens_hsa047251.96320607
16Taste transduction_Homo sapiens_hsa047421.82363107
17Collecting duct acid secretion_Homo sapiens_hsa049661.81410865
18Serotonergic synapse_Homo sapiens_hsa047261.80468351
19Phototransduction_Homo sapiens_hsa047441.76719676
20Gastric acid secretion_Homo sapiens_hsa049711.73807030
21Long-term depression_Homo sapiens_hsa047301.72441684
22Renin secretion_Homo sapiens_hsa049241.69995303
23Aldosterone synthesis and secretion_Homo sapiens_hsa049251.68901066
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.62885650
25Oxytocin signaling pathway_Homo sapiens_hsa049211.62645918
26Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.49947599
27Calcium signaling pathway_Homo sapiens_hsa040201.47829885
28Cocaine addiction_Homo sapiens_hsa050301.39528024
29Gap junction_Homo sapiens_hsa045401.38415419
30Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.32143533
31GnRH signaling pathway_Homo sapiens_hsa049121.31950605
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.29779744
33Axon guidance_Homo sapiens_hsa043601.22225115
34Cardiac muscle contraction_Homo sapiens_hsa042601.20407829
35Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.18953878
36Vibrio cholerae infection_Homo sapiens_hsa051101.15204955
37cAMP signaling pathway_Homo sapiens_hsa040241.14078432
38Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.10778038
39Type II diabetes mellitus_Homo sapiens_hsa049301.10766023
40Phosphatidylinositol signaling system_Homo sapiens_hsa040701.07091848
41Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.06790931
42Estrogen signaling pathway_Homo sapiens_hsa049151.02710800
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.00831308
44Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.99819716
45ErbB signaling pathway_Homo sapiens_hsa040120.96690676
46Vascular smooth muscle contraction_Homo sapiens_hsa042700.93776227
47Melanogenesis_Homo sapiens_hsa049160.93549293
48Glioma_Homo sapiens_hsa052140.93039041
49Oocyte meiosis_Homo sapiens_hsa041140.83621027
50Butanoate metabolism_Homo sapiens_hsa006500.81297635
51Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.80806048
52Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.80247174
53Pancreatic secretion_Homo sapiens_hsa049720.79428858
54Vitamin B6 metabolism_Homo sapiens_hsa007500.77637573
55Phospholipase D signaling pathway_Homo sapiens_hsa040720.77611420
56Dilated cardiomyopathy_Homo sapiens_hsa054140.77351615
57Huntingtons disease_Homo sapiens_hsa050160.75944873
58Protein export_Homo sapiens_hsa030600.70268405
59Thyroid hormone synthesis_Homo sapiens_hsa049180.68223749
60Choline metabolism in cancer_Homo sapiens_hsa052310.66236629
61MAPK signaling pathway_Homo sapiens_hsa040100.65219709
62Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.65066732
63Hedgehog signaling pathway_Homo sapiens_hsa043400.64389480
64Dorso-ventral axis formation_Homo sapiens_hsa043200.59135784
65Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.59073739
66Carbohydrate digestion and absorption_Homo sapiens_hsa049730.58764339
67Ras signaling pathway_Homo sapiens_hsa040140.57371208
68Circadian rhythm_Homo sapiens_hsa047100.56830112
69Alzheimers disease_Homo sapiens_hsa050100.56827794
70Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.56370640
71Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.55477923
72Alcoholism_Homo sapiens_hsa050340.53730153
73Hippo signaling pathway_Homo sapiens_hsa043900.52246009
74Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.52233995
75Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.52092171
76Inositol phosphate metabolism_Homo sapiens_hsa005620.51806161
77Sphingolipid signaling pathway_Homo sapiens_hsa040710.50548476
78VEGF signaling pathway_Homo sapiens_hsa043700.47243597
79Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.47136139
80Arginine and proline metabolism_Homo sapiens_hsa003300.46642181
81SNARE interactions in vesicular transport_Homo sapiens_hsa041300.46265346
82Regulation of autophagy_Homo sapiens_hsa041400.45687222
83Oxidative phosphorylation_Homo sapiens_hsa001900.45253790
84Renal cell carcinoma_Homo sapiens_hsa052110.44988119
85* Endocytosis_Homo sapiens_hsa041440.44730625
86Neurotrophin signaling pathway_Homo sapiens_hsa047220.44612260
87Thyroid hormone signaling pathway_Homo sapiens_hsa049190.44607871
88Glucagon signaling pathway_Homo sapiens_hsa049220.43898629
89Rap1 signaling pathway_Homo sapiens_hsa040150.43468815
90Endometrial cancer_Homo sapiens_hsa052130.41972684
91mTOR signaling pathway_Homo sapiens_hsa041500.40988405
92Wnt signaling pathway_Homo sapiens_hsa043100.40456489
93Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.39413761
94Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.38629365
95Bile secretion_Homo sapiens_hsa049760.38509348
96Type I diabetes mellitus_Homo sapiens_hsa049400.38026389
97Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.36533689
98Ovarian steroidogenesis_Homo sapiens_hsa049130.36044429
99Basal cell carcinoma_Homo sapiens_hsa052170.34365129
100Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.33741924
101beta-Alanine metabolism_Homo sapiens_hsa004100.33361455
102Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.32939749
103Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.32593969
104Nitrogen metabolism_Homo sapiens_hsa009100.31591350
105Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.31269198
106Prion diseases_Homo sapiens_hsa050200.30649025
107Ether lipid metabolism_Homo sapiens_hsa005650.29455416
108Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.28878275
109Tight junction_Homo sapiens_hsa045300.28543678
110Longevity regulating pathway - mammal_Homo sapiens_hsa042110.28186869
111Insulin signaling pathway_Homo sapiens_hsa049100.27232447
112Parkinsons disease_Homo sapiens_hsa050120.27204806
113Rheumatoid arthritis_Homo sapiens_hsa053230.26610403
114Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.26337145
115Central carbon metabolism in cancer_Homo sapiens_hsa052300.25900318
116Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.25713345
117Chemokine signaling pathway_Homo sapiens_hsa040620.24683510
118AMPK signaling pathway_Homo sapiens_hsa041520.24545278
119Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.24228954
120Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.22956508
121Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.21303846

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