AK5

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 member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.62375660
2synaptic vesicle maturation (GO:0016188)6.17348059
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.09272412
4locomotory exploration behavior (GO:0035641)6.06578792
5glutamate secretion (GO:0014047)5.94456921
6synaptic vesicle docking involved in exocytosis (GO:0016081)5.81876780
7synaptic vesicle exocytosis (GO:0016079)5.81261570
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.78863717
9vocalization behavior (GO:0071625)5.65475591
10regulation of glutamate receptor signaling pathway (GO:1900449)5.50129590
11positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.39511225
12regulation of synaptic vesicle exocytosis (GO:2000300)5.24093077
13protein localization to synapse (GO:0035418)5.20823501
14ionotropic glutamate receptor signaling pathway (GO:0035235)5.07555138
15regulation of neuronal synaptic plasticity (GO:0048168)5.04955323
16exploration behavior (GO:0035640)4.89911062
17regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.89648663
18regulation of synaptic vesicle transport (GO:1902803)4.79644239
19regulation of long-term neuronal synaptic plasticity (GO:0048169)4.76284920
20central nervous system myelination (GO:0022010)4.74792304
21axon ensheathment in central nervous system (GO:0032291)4.74792304
22neuronal action potential propagation (GO:0019227)4.72201513
23amino acid import (GO:0043090)4.68564724
24synaptic transmission, glutamatergic (GO:0035249)4.54215347
25glutamate receptor signaling pathway (GO:0007215)4.52948826
26neurotransmitter-gated ion channel clustering (GO:0072578)4.42640534
27neuron cell-cell adhesion (GO:0007158)4.38659645
28cerebellar granule cell differentiation (GO:0021707)4.38466674
29neurotransmitter secretion (GO:0007269)4.33477774
30regulation of excitatory postsynaptic membrane potential (GO:0060079)4.19126277
31dendritic spine morphogenesis (GO:0060997)4.15150726
32positive regulation of membrane potential (GO:0045838)4.12835770
33regulation of synaptic plasticity (GO:0048167)4.10433985
34proline transport (GO:0015824)4.09953172
35long-term memory (GO:0007616)4.09857685
36neuron-neuron synaptic transmission (GO:0007270)4.08450567
37potassium ion homeostasis (GO:0055075)4.07976213
38neuronal ion channel clustering (GO:0045161)4.04221424
39regulation of synapse structural plasticity (GO:0051823)4.04007174
40negative regulation of dendrite morphogenesis (GO:0050774)4.01589648
41regulation of postsynaptic membrane potential (GO:0060078)3.93276347
42regulation of voltage-gated calcium channel activity (GO:1901385)3.88979444
43positive regulation of synapse maturation (GO:0090129)3.87880847
44synaptic vesicle endocytosis (GO:0048488)3.86041288
45regulation of dendritic spine morphogenesis (GO:0061001)3.85585835
46potassium ion import (GO:0010107)3.83726854
47long-term synaptic potentiation (GO:0060291)3.81505033
48cellular potassium ion homeostasis (GO:0030007)3.71213360
49layer formation in cerebral cortex (GO:0021819)3.70673937
50membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.63932536
51gamma-aminobutyric acid signaling pathway (GO:0007214)3.63092653
52negative regulation of synaptic transmission, GABAergic (GO:0032229)3.61695232
53neuron recognition (GO:0008038)3.58836863
54positive regulation of neurotransmitter secretion (GO:0001956)3.57339259
55dendritic spine organization (GO:0097061)3.56628014
56regulation of neurotransmitter secretion (GO:0046928)3.56117489
57positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.54888343
58G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.50681813
59neurotransmitter transport (GO:0006836)3.50462396
60regulation of vesicle fusion (GO:0031338)3.46634536
61activation of protein kinase A activity (GO:0034199)3.45828059
62positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.43012478
63acidic amino acid transport (GO:0015800)3.41549217
64postsynaptic membrane organization (GO:0001941)3.40214734
65regulation of synaptic transmission, glutamatergic (GO:0051966)3.38592013
66gamma-aminobutyric acid transport (GO:0015812)3.36450979
67innervation (GO:0060384)3.36406417
68behavioral defense response (GO:0002209)3.36284963
69behavioral fear response (GO:0001662)3.36284963
70neuromuscular process controlling balance (GO:0050885)3.35916935
71regulation of dendritic spine development (GO:0060998)3.32097730
72cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.31572259
73sodium ion export (GO:0071436)3.31400022
74vesicle docking involved in exocytosis (GO:0006904)3.30770416
75cellular sodium ion homeostasis (GO:0006883)3.29554992
76presynaptic membrane assembly (GO:0097105)3.29019503
77neurotransmitter uptake (GO:0001504)3.29018979
78axonal fasciculation (GO:0007413)3.27863132
79positive regulation of dendritic spine morphogenesis (GO:0061003)3.26764522
80membrane depolarization (GO:0051899)3.26676858
81positive regulation of dendritic spine development (GO:0060999)3.26199319
82regulation of synaptic transmission (GO:0050804)3.23978779
83positive regulation of synaptic transmission, GABAergic (GO:0032230)3.23315626
84regulation of neurotransmitter levels (GO:0001505)3.22925899
85regulation of neurotransmitter transport (GO:0051588)3.20408424
86positive regulation of neurotransmitter transport (GO:0051590)3.20106235
87G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.19717938
88neuromuscular synaptic transmission (GO:0007274)3.19375885
89transmission of nerve impulse (GO:0019226)3.19285681
90cell communication by electrical coupling (GO:0010644)3.19217425
91positive regulation of synaptic transmission (GO:0050806)3.17345427
92regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.16601790
93chemosensory behavior (GO:0007635)3.14447899
94response to histamine (GO:0034776)3.13341561
95vesicle transport along microtubule (GO:0047496)3.13229529
96positive regulation of fibroblast migration (GO:0010763)3.13066042
97response to gravity (GO:0009629)3.12939797
98fear response (GO:0042596)3.12854795
99vesicle docking (GO:0048278)3.11998290
100learning (GO:0007612)3.11846851
101cytoskeletal anchoring at plasma membrane (GO:0007016)3.09295610
102detection of calcium ion (GO:0005513)3.09292524
103cerebellar Purkinje cell differentiation (GO:0021702)3.09124073
104regulation of glutamate secretion (GO:0014048)3.07871838
105L-amino acid import (GO:0043092)3.07061575
106synaptic transmission (GO:0007268)3.05994750
107negative regulation of amino acid transport (GO:0051956)3.05919338
108regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.05400033
109membrane depolarization during action potential (GO:0086010)3.05384936
110neuromuscular process controlling posture (GO:0050884)3.05246567
111L-glutamate transport (GO:0015813)3.05060645
112phosphorelay signal transduction system (GO:0000160)3.01855691
113presynaptic membrane organization (GO:0097090)3.00921087
114dendrite morphogenesis (GO:0048813)3.00294045
115synaptic vesicle transport (GO:0048489)2.98371705
116establishment of synaptic vesicle localization (GO:0097480)2.98371705
117regulation of synapse maturation (GO:0090128)2.96966354
118social behavior (GO:0035176)2.96184494
119intraspecies interaction between organisms (GO:0051703)2.96184494
120negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.94666081
121serotonin metabolic process (GO:0042428)2.93977171
122regulation of ARF protein signal transduction (GO:0032012)2.93548296
123long term synaptic depression (GO:0060292)2.93026297
124neuromuscular process (GO:0050905)2.91766219
125regulation of exocytosis (GO:0017157)2.91451685
126positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.90621046

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.50456687
2GBX2_23144817_ChIP-Seq_PC3_Human3.63792972
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.24261160
4* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.17020063
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.13401984
6* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.82780276
7* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.82780276
8REST_21632747_ChIP-Seq_MESCs_Mouse2.79189861
9* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.77656661
10* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.74356013
11RARB_27405468_Chip-Seq_BRAIN_Mouse2.73884686
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.65670408
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.60006425
14* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.58609927
15EZH2_27304074_Chip-Seq_ESCs_Mouse2.53765756
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.51514192
17DROSHA_22980978_ChIP-Seq_HELA_Human2.49975539
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.39346448
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.28871316
20REST_18959480_ChIP-ChIP_MESCs_Mouse2.28031999
21IKZF1_21737484_ChIP-ChIP_HCT116_Human2.27713992
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.27618237
23EZH2_27294783_Chip-Seq_ESCs_Mouse2.24916267
24MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.01439803
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.95764696
26NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.92867330
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.83311159
28EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.77445799
29AR_21572438_ChIP-Seq_LNCaP_Human1.75024415
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.72801278
31* SMAD4_21799915_ChIP-Seq_A2780_Human1.66410821
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.66281218
33* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.62868722
34TAF15_26573619_Chip-Seq_HEK293_Human1.52861928
35ERG_21242973_ChIP-ChIP_JURKAT_Human1.52694314
36GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.46659748
37PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.43111200
38PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.39067935
39P300_19829295_ChIP-Seq_ESCs_Human1.38837484
40NR3C1_23031785_ChIP-Seq_PC12_Mouse1.37307640
41SMAD_19615063_ChIP-ChIP_OVARY_Human1.36006032
42ZFP57_27257070_Chip-Seq_ESCs_Mouse1.35065586
43RING1B_27294783_Chip-Seq_ESCs_Mouse1.34262058
44RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.32083924
45RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.30890343
46* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.30318076
47PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.30124695
48ZNF274_21170338_ChIP-Seq_K562_Hela1.29717766
49* AR_25329375_ChIP-Seq_VCAP_Human1.29425642
50SOX2_21211035_ChIP-Seq_LN229_Gbm1.28868017
51TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.27894977
52SMAD3_21741376_ChIP-Seq_EPCs_Human1.26522053
53DNAJC2_21179169_ChIP-ChIP_NT2_Human1.22628172
54TET1_21490601_ChIP-Seq_MESCs_Mouse1.22095429
55TOP2B_26459242_ChIP-Seq_MCF-7_Human1.19500921
56STAT3_23295773_ChIP-Seq_U87_Human1.16935944
57* AR_19668381_ChIP-Seq_PC3_Human1.16743265
58* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.16293570
59CTNNB1_20460455_ChIP-Seq_HCT116_Human1.15957917
60GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15882380
61ZFP281_27345836_Chip-Seq_ESCs_Mouse1.15790978
62WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.13655059
63OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13325562
64SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.12967779
65ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.12159855
66CBX2_27304074_Chip-Seq_ESCs_Mouse1.11972288
67TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.11462867
68ZNF217_24962896_ChIP-Seq_MCF-7_Human1.07474786
69* ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.06794436
70SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.06627073
71* RING1B_27294783_Chip-Seq_NPCs_Mouse1.06509929
72PIAS1_25552417_ChIP-Seq_VCAP_Human1.06333110
73TRIM28_21343339_ChIP-Seq_HEK293_Human1.05990305
74P53_22127205_ChIP-Seq_FIBROBLAST_Human1.04514532
75EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.04397284
76TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.03862218
77PRDM14_20953172_ChIP-Seq_ESCs_Human1.03643393
78* TCF4_23295773_ChIP-Seq_U87_Human1.03336581
79ARNT_22903824_ChIP-Seq_MCF-7_Human1.03221525
80BMI1_23680149_ChIP-Seq_NPCS_Mouse1.02702405
81ZFP281_18757296_ChIP-ChIP_E14_Mouse1.02125697
82CDX2_19796622_ChIP-Seq_MESCs_Mouse1.01294297
83TP53_16413492_ChIP-PET_HCT116_Human1.00999494
84KDM2B_26808549_Chip-Seq_K562_Human0.99591758
85GATA1_26923725_Chip-Seq_HPCs_Mouse0.99342601
86RXR_22108803_ChIP-Seq_LS180_Human0.99329774
87RNF2_27304074_Chip-Seq_NSC_Mouse0.98168575
88* YAP1_20516196_ChIP-Seq_MESCs_Mouse0.97748786
89ESR2_21235772_ChIP-Seq_MCF-7_Human0.97717692
90MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97408451
91OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.95983590
92AHR_22903824_ChIP-Seq_MCF-7_Human0.95366505
93* CTCF_27219007_Chip-Seq_Bcells_Human0.94966973
94NR3C1_21868756_ChIP-Seq_MCF10A_Human0.94756186
95JUN_21703547_ChIP-Seq_K562_Human0.94678477
96GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94382668
97SMAD3_21741376_ChIP-Seq_HESCs_Human0.94346823
98EP300_21415370_ChIP-Seq_HL-1_Mouse0.93113021
99FUS_26573619_Chip-Seq_HEK293_Human0.93011374
100AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.92777496
101TP53_18474530_ChIP-ChIP_U2OS_Human0.92263357
102SMAD3_21741376_ChIP-Seq_ESCs_Human0.92056878
103RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.92021199
104SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92010448
105VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.91715944
106RUNX2_22187159_ChIP-Seq_PCA_Human0.91600347
107TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91191822
108PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.90488297
109SMAD4_21741376_ChIP-Seq_HESCs_Human0.89895218
110UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.89158728
111SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.87356878
112VDR_22108803_ChIP-Seq_LS180_Human0.86810468
113THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.86649370
114TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.85400547
115POU3F2_20337985_ChIP-ChIP_501MEL_Human0.85061918
116DPY_21335234_ChIP-Seq_ESCs_Mouse0.84320898
117KDM2B_26808549_Chip-Seq_REH_Human0.82241354
118CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.82206476
119* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79302518
120EGR1_19032775_ChIP-ChIP_M12_Human0.79006055
121DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.77998220
122EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.77624836
123PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.77509538

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.81983989
2MP0003880_abnormal_central_pattern5.35562580
3MP0003635_abnormal_synaptic_transmissio4.44328757
4MP0004270_analgesia3.81547717
5MP0009745_abnormal_behavioral_response3.59603531
6MP0002063_abnormal_learning/memory/cond3.58281513
7MP0002064_seizures3.31511665
8MP0001968_abnormal_touch/_nociception3.22964471
9MP0002572_abnormal_emotion/affect_behav2.89543147
10MP0009046_muscle_twitch2.83027037
11MP0002736_abnormal_nociception_after2.64687706
12MP0002272_abnormal_nervous_system2.61349961
13MP0002735_abnormal_chemical_nociception2.56458159
14MP0002734_abnormal_mechanical_nocicepti2.54938392
15MP0001486_abnormal_startle_reflex2.43494178
16MP0001501_abnormal_sleep_pattern2.36616390
17MP0005423_abnormal_somatic_nervous2.32337150
18MP0001440_abnormal_grooming_behavior2.25949093
19MP0009780_abnormal_chondrocyte_physiolo2.14032266
20MP0002822_catalepsy2.08514081
21MP0004858_abnormal_nervous_system1.97739769
22MP0003329_amyloid_beta_deposits1.97253306
23MP0002733_abnormal_thermal_nociception1.94543991
24MP0001970_abnormal_pain_threshold1.92996149
25MP0002067_abnormal_sensory_capabilities1.86516836
26MP0004811_abnormal_neuron_physiology1.80300941
27MP0008569_lethality_at_weaning1.77871033
28MP0003879_abnormal_hair_cell1.77513383
29MP0002184_abnormal_innervation1.69126346
30MP0000778_abnormal_nervous_system1.68717929
31MP0002557_abnormal_social/conspecific_i1.63968240
32MP0003787_abnormal_imprinting1.59738230
33MP0005646_abnormal_pituitary_gland1.56316913
34MP0005386_behavior/neurological_phenoty1.50566201
35MP0004924_abnormal_behavior1.50566201
36MP0000955_abnormal_spinal_cord1.47414830
37MP0006276_abnormal_autonomic_nervous1.47290127
38MP0002909_abnormal_adrenal_gland1.42853235
39MP0002066_abnormal_motor_capabilities/c1.38886788
40MP0003633_abnormal_nervous_system1.38037818
41MP0002882_abnormal_neuron_morphology1.36851531
42MP0005645_abnormal_hypothalamus_physiol1.30453500
43MP0004885_abnormal_endolymph1.30428197
44MP0001984_abnormal_olfaction1.29065220
45MP0001905_abnormal_dopamine_level1.26248049
46MP0003122_maternal_imprinting1.26093964
47MP0003075_altered_response_to1.21659357
48MP0001502_abnormal_circadian_rhythm1.20289414
49MP0003631_nervous_system_phenotype1.15453276
50MP0004142_abnormal_muscle_tone1.06393898
51MP0000751_myopathy1.04950556
52MP0002152_abnormal_brain_morphology1.02355562
53MP0008874_decreased_physiological_sensi0.96625846
54MP0002837_dystrophic_cardiac_calcinosis0.93516824
55MP0002069_abnormal_eating/drinking_beha0.91257344
56MP0001177_atelectasis0.90438434
57MP0000604_amyloidosis0.90109913
58MP0004510_myositis0.89805347
59MP0008872_abnormal_physiological_respon0.89709146
60MP0010234_abnormal_vibrissa_follicle0.88709596
61MP0001348_abnormal_lacrimal_gland0.88443326
62MP0001986_abnormal_taste_sensitivity0.86147735
63MP0002876_abnormal_thyroid_physiology0.85811368
64MP0001299_abnormal_eye_distance/0.85185222
65MP0010386_abnormal_urinary_bladder0.85064794
66MP0004484_altered_response_of0.84464399
67MP0004145_abnormal_muscle_electrophysio0.84344391
68MP0002229_neurodegeneration0.83786457
69MP0001529_abnormal_vocalization0.83301515
70MP0004147_increased_porphyrin_level0.81992444
71MP0005535_abnormal_body_temperature0.81882064
72MP0001346_abnormal_lacrimal_gland0.80085050
73MP0001963_abnormal_hearing_physiology0.79941895
74MP0001958_emphysema0.78979273
75MP0000013_abnormal_adipose_tissue0.78009946
76MP0005623_abnormal_meninges_morphology0.76414935
77MP0004085_abnormal_heartbeat0.74760756
78MP0001188_hyperpigmentation0.74577149
79MP0003283_abnormal_digestive_organ0.72947972
80MP0003632_abnormal_nervous_system0.72316747
81MP0003634_abnormal_glial_cell0.71959049
82MP0008961_abnormal_basal_metabolism0.70847967
83MP0003690_abnormal_glial_cell0.70188764
84MP0001664_abnormal_digestion0.69665043
85MP0003045_fibrosis0.68333045
86MP0000920_abnormal_myelination0.65661666
87MP0004742_abnormal_vestibular_system0.65568423
88MP0000569_abnormal_digit_pigmentation0.65468627
89MP0003123_paternal_imprinting0.65407937
90MP0004215_abnormal_myocardial_fiber0.64485476
91MP0004130_abnormal_muscle_cell0.64152101
92MP0003705_abnormal_hypodermis_morpholog0.63780579
93MP0005551_abnormal_eye_electrophysiolog0.63597972
94MP0005171_absent_coat_pigmentation0.62521639
95MP0005499_abnormal_olfactory_system0.62278491
96MP0005394_taste/olfaction_phenotype0.62278491
97MP0005167_abnormal_blood-brain_barrier0.61948181
98MP0002752_abnormal_somatic_nervous0.61930605
99MP0001485_abnormal_pinna_reflex0.59582219
100MP0004233_abnormal_muscle_weight0.58955061
101MP0008877_abnormal_DNA_methylation0.58036663
102MP0000631_abnormal_neuroendocrine_gland0.55679116
103MP0002090_abnormal_vision0.54687477
104MP0001765_abnormal_ion_homeostasis0.52305804
105MP0005388_respiratory_system_phenotype0.51259885
106MP0002133_abnormal_respiratory_system0.51259885
107MP0003137_abnormal_impulse_conducting0.50542584
108MP0002638_abnormal_pupillary_reflex0.50347734
109MP0003172_abnormal_lysosome_physiology0.49560231
110MP0005166_decreased_susceptibility_to0.49499483
111MP0001943_abnormal_respiration0.49152734
112MP0000749_muscle_degeneration0.48553096
113MP0010768_mortality/aging0.47790958
114MP0003956_abnormal_body_size0.47509470
115MP0003279_aneurysm0.47498230
116MP0003861_abnormal_nervous_system0.46812702
117MP0002082_postnatal_lethality0.46720894
118MP0010770_preweaning_lethality0.46720894
119MP0002089_abnormal_postnatal_growth/wei0.46505101
120MP0010769_abnormal_survival0.46428553
121MP0002295_abnormal_pulmonary_circulatio0.46107959
122MP0000747_muscle_weakness0.44422218

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.58931704
2Myokymia (HP:0002411)7.75138561
3Focal seizures (HP:0007359)6.20591042
4Visual hallucinations (HP:0002367)5.63742377
5Epileptic encephalopathy (HP:0200134)5.36282667
6Atonic seizures (HP:0010819)5.15289809
7Febrile seizures (HP:0002373)4.66606974
8Progressive cerebellar ataxia (HP:0002073)4.57248370
9Absence seizures (HP:0002121)4.39938235
10Dialeptic seizures (HP:0011146)4.15723859
11Action tremor (HP:0002345)4.14166222
12Generalized tonic-clonic seizures (HP:0002069)4.10418954
13Impaired vibration sensation in the lower limbs (HP:0002166)3.72408153
14Supranuclear gaze palsy (HP:0000605)3.57498662
15Amblyopia (HP:0000646)3.54306944
16Hyperventilation (HP:0002883)3.51855536
17Abnormality of the lower motor neuron (HP:0002366)3.45113190
18Broad-based gait (HP:0002136)3.43529861
19Depression (HP:0000716)3.39191964
20Gaze-evoked nystagmus (HP:0000640)3.38305481
21Poor eye contact (HP:0000817)3.35137446
22Dysmetria (HP:0001310)3.29544090
23Dysdiadochokinesis (HP:0002075)3.18741639
24Cerebral hypomyelination (HP:0006808)3.18077483
25Akinesia (HP:0002304)3.15177010
26Tetraplegia (HP:0002445)3.10753653
27Urinary bladder sphincter dysfunction (HP:0002839)3.07694596
28Postural instability (HP:0002172)3.07444704
29Anxiety (HP:0000739)3.06002385
30Ankle clonus (HP:0011448)3.04022511
31Abnormal eating behavior (HP:0100738)3.02125002
32Papilledema (HP:0001085)2.95920412
33Impaired social interactions (HP:0000735)2.94081130
34Abnormal social behavior (HP:0012433)2.94081130
35Truncal ataxia (HP:0002078)2.93898869
36Limb dystonia (HP:0002451)2.92116110
37Neuronal loss in central nervous system (HP:0002529)2.82780285
38Degeneration of the lateral corticospinal tracts (HP:0002314)2.78040186
39Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.78040186
40Clonus (HP:0002169)2.69748117
41Mutism (HP:0002300)2.69156773
42Cerebral inclusion bodies (HP:0100314)2.69086208
43Impaired smooth pursuit (HP:0007772)2.67791903
44Genetic anticipation (HP:0003743)2.67354734
45Urinary urgency (HP:0000012)2.66598069
46Termporal pattern (HP:0011008)2.64075706
47Insidious onset (HP:0003587)2.64075706
48Bradykinesia (HP:0002067)2.63496141
49Excessive salivation (HP:0003781)2.61877286
50Drooling (HP:0002307)2.61877286
51Epileptiform EEG discharges (HP:0011182)2.56591976
52Stereotypic behavior (HP:0000733)2.54112226
53Impaired vibratory sensation (HP:0002495)2.53605984
54Focal dystonia (HP:0004373)2.51028818
55Torticollis (HP:0000473)2.49585509
56Ventricular fibrillation (HP:0001663)2.43594283
57Peripheral hypomyelination (HP:0007182)2.43561864
58Annular pancreas (HP:0001734)2.42481178
59Diplopia (HP:0000651)2.40803707
60Abnormality of binocular vision (HP:0011514)2.40803707
61Apathy (HP:0000741)2.38174024
62Spastic gait (HP:0002064)2.35661596
63Neurofibrillary tangles (HP:0002185)2.34846442
64EEG with generalized epileptiform discharges (HP:0011198)2.34459295
65Hemiparesis (HP:0001269)2.34108488
66Scanning speech (HP:0002168)2.33593873
67Progressive inability to walk (HP:0002505)2.32523356
68Delusions (HP:0000746)2.32062184
69Abnormality of ocular smooth pursuit (HP:0000617)2.31034129
70Megalencephaly (HP:0001355)2.28429328
71Intention tremor (HP:0002080)2.27692956
72Spastic tetraparesis (HP:0001285)2.25821513
73Absent speech (HP:0001344)2.25573485
74Generalized myoclonic seizures (HP:0002123)2.25365213
75Hemiplegia (HP:0002301)2.24266666
76Fetal akinesia sequence (HP:0001989)2.23217189
77Hypsarrhythmia (HP:0002521)2.20283000
78Dysmetric saccades (HP:0000641)2.19717644
79Status epilepticus (HP:0002133)2.15819104
80Incomplete penetrance (HP:0003829)2.12063332
81Diminished motivation (HP:0000745)2.11373089
82Lower limb muscle weakness (HP:0007340)2.11062456
83Inability to walk (HP:0002540)2.10005761
84Pointed chin (HP:0000307)2.09214120
85Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.08988109
86Obstructive sleep apnea (HP:0002870)2.06054874
87Craniofacial dystonia (HP:0012179)2.05648777
88Bundle branch block (HP:0011710)2.04324382
89Choreoathetosis (HP:0001266)2.00979611
90Gait ataxia (HP:0002066)1.98967852
91Rapidly progressive (HP:0003678)1.94701332
92Lower limb asymmetry (HP:0100559)1.94562658
93Pheochromocytoma (HP:0002666)1.94105203
94Mild short stature (HP:0003502)1.92849960
95Distal upper limb amyotrophy (HP:0007149)1.92733456
96Upper limb amyotrophy (HP:0009129)1.92733456
97Morphological abnormality of the pyramidal tract (HP:0002062)1.90936203
98Agitation (HP:0000713)1.89824573
99Insomnia (HP:0100785)1.89460655
100Hand muscle atrophy (HP:0009130)1.89232501
101CNS hypomyelination (HP:0003429)1.89190167
102Abnormality of the corticospinal tract (HP:0002492)1.87472901
103Lower limb amyotrophy (HP:0007210)1.87299825
104Blue irides (HP:0000635)1.83681532
105Polyphagia (HP:0002591)1.82241271
106Hypoventilation (HP:0002791)1.82178489
107Rigidity (HP:0002063)1.81138900
108Memory impairment (HP:0002354)1.80984770
109Aplasia involving bones of the upper limbs (HP:0009823)1.80796039
110Aplasia of the phalanges of the hand (HP:0009802)1.80796039
111Aplasia involving bones of the extremities (HP:0009825)1.80796039
112Abnormality of salivation (HP:0100755)1.80779339
113Psychosis (HP:0000709)1.79868295
114Spinal canal stenosis (HP:0003416)1.79044929
115Ankyloglossia (HP:0010296)1.76957943
116Slow progression (HP:0003677)1.74511023
117Anosmia (HP:0000458)1.73155385
118Heart block (HP:0012722)1.72457918
119Thickened helices (HP:0000391)1.65788463
120Increased circulating renin level (HP:0000848)1.64564521
121Sleep apnea (HP:0010535)1.63930493
122Neuroendocrine neoplasm (HP:0100634)1.63366963
123Abnormality of saccadic eye movements (HP:0000570)1.62738141
124Abnormal EKG (HP:0003115)1.61664217
125Protruding tongue (HP:0010808)1.61062865

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK35.19673233
2EPHA44.68011991
3MAP3K93.99610864
4MAP3K42.83854777
5DAPK22.71559787
6KSR22.70893549
7MINK12.69078075
8MAP2K72.42417976
9PAK62.39778263
10MAP3K122.34831924
11PRKD32.26447577
12MARK11.95566436
13ARAF1.94771489
14KSR11.94029162
15CASK1.92251321
16PRPF4B1.90426266
17RIPK41.89323637
18MAP2K41.86149816
19DAPK11.82276447
20PLK21.78021443
21MAP3K131.73346369
22CAMKK11.72921653
23CDK191.58937284
24NTRK11.54821718
25CDK51.50277663
26NTRK21.49992693
27GRK51.48606035
28MAP3K21.45461101
29PTK2B1.43496611
30STK381.39275942
31FES1.32478348
32TNIK1.31482521
33RAF11.22703458
34PRKCG1.22338877
35LATS21.13474333
36MAPK131.11730703
37LIMK11.11347352
38RIPK11.09618929
39NME11.05758547
40CAMK11.04790380
41CAMK2A1.04776470
42SIK21.04231528
43PNCK1.03947689
44TYRO30.90378197
45CDK180.89727123
46CDK150.86472931
47BMPR20.84933060
48CDK140.84350799
49CAMK2B0.83846722
50UHMK10.83661892
51MAPK120.83043311
52TAOK10.82238460
53PAK30.80318913
54LMTK20.78998743
55MAP3K10.78763616
56OXSR10.78658792
57RET0.76569992
58SGK2230.74532591
59SGK4940.74532591
60CDK11A0.74457108
61PRKCH0.74113355
62PDK10.73171267
63STK110.71733220
64FER0.71000498
65PKN10.70685561
66MAP3K110.66849507
67PDPK10.65479160
68CAMKK20.63943806
69FGR0.63757399
70SGK10.62612169
71WNK10.62245445
72SGK20.61865030
73MOS0.61556967
74PINK10.59957580
75MAP3K70.57968475
76PHKG20.57409159
77PHKG10.57409159
78BRAF0.56894217
79CCNB10.56538204
80MAP2K10.56498224
81DYRK1A0.55814970
82TESK10.52939979
83DAPK30.51537401
84SGK30.51140814
85SIK30.50844977
86MARK20.50538742
87FGFR20.49888880
88ALK0.48447944
89ROCK10.47742329
90TNK20.46996592
91CAMK2D0.44194517
92PRKCE0.43993956
93RPS6KA30.41485108
94CAMK40.41151198
95DDR20.40681680
96CAMK2G0.40442199
97PDGFRA0.40416925
98CSNK1G20.38328161
99PRKG20.37263432
100DMPK0.36542632
101PRKCZ0.36519000
102AKT30.36133635
103FYN0.35260593
104BRSK10.34736424
105MAPK100.34058023
106PTK20.33997250
107MAP3K60.33370256
108CDC42BPA0.32838525
109NEK60.32456088
110PRKG10.32106291
111PAK20.32101767
112NEK10.31375654
113JAK10.30367445
114ROCK20.29065562
115PRKCB0.28835858
116PRKCA0.27184428

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.69171081
2Synaptic vesicle cycle_Homo sapiens_hsa047213.45285647
3Long-term potentiation_Homo sapiens_hsa047202.95282525
4Olfactory transduction_Homo sapiens_hsa047402.83534033
5Circadian entrainment_Homo sapiens_hsa047132.78350313
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.67153771
7Glutamatergic synapse_Homo sapiens_hsa047242.61596836
8Amphetamine addiction_Homo sapiens_hsa050312.60318763
9GABAergic synapse_Homo sapiens_hsa047272.49848971
10Morphine addiction_Homo sapiens_hsa050322.35849033
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.25061173
12Salivary secretion_Homo sapiens_hsa049702.24309741
13Dopaminergic synapse_Homo sapiens_hsa047282.08027429
14Insulin secretion_Homo sapiens_hsa049112.07110380
15Gastric acid secretion_Homo sapiens_hsa049711.99492583
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.94318609
17Cholinergic synapse_Homo sapiens_hsa047251.85465460
18Oxytocin signaling pathway_Homo sapiens_hsa049211.75438027
19Collecting duct acid secretion_Homo sapiens_hsa049661.71110341
20Taste transduction_Homo sapiens_hsa047421.68760939
21Long-term depression_Homo sapiens_hsa047301.68226752
22Calcium signaling pathway_Homo sapiens_hsa040201.67787144
23Renin secretion_Homo sapiens_hsa049241.66913799
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.64448620
25GnRH signaling pathway_Homo sapiens_hsa049121.61623540
26Serotonergic synapse_Homo sapiens_hsa047261.54947317
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.48875388
28Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.45371670
29Cocaine addiction_Homo sapiens_hsa050301.36447634
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.35335672
31Glioma_Homo sapiens_hsa052141.33343569
32Vitamin B6 metabolism_Homo sapiens_hsa007501.30099772
33Gap junction_Homo sapiens_hsa045401.28294359
34cAMP signaling pathway_Homo sapiens_hsa040241.27966260
35Phosphatidylinositol signaling system_Homo sapiens_hsa040701.19296760
36Estrogen signaling pathway_Homo sapiens_hsa049151.17302104
37Type II diabetes mellitus_Homo sapiens_hsa049301.12732746
38Melanogenesis_Homo sapiens_hsa049161.10746485
39ErbB signaling pathway_Homo sapiens_hsa040121.09933755
40Vibrio cholerae infection_Homo sapiens_hsa051101.06698513
41Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.06670032
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05861978
43Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.05410747
44Axon guidance_Homo sapiens_hsa043601.03201697
45Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.99264626
46Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.96916070
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.96565927
48Oocyte meiosis_Homo sapiens_hsa041140.94433783
49Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.89956609
50Cardiac muscle contraction_Homo sapiens_hsa042600.89877419
51Dorso-ventral axis formation_Homo sapiens_hsa043200.87169424
52Phospholipase D signaling pathway_Homo sapiens_hsa040720.85669168
53Nitrogen metabolism_Homo sapiens_hsa009100.85139938
54Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.82895071
55Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.82883520
56Pancreatic secretion_Homo sapiens_hsa049720.80789743
57Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.78686975
58VEGF signaling pathway_Homo sapiens_hsa043700.78369698
59Choline metabolism in cancer_Homo sapiens_hsa052310.77585504
60Thyroid hormone synthesis_Homo sapiens_hsa049180.76374809
61MAPK signaling pathway_Homo sapiens_hsa040100.70895847
62Dilated cardiomyopathy_Homo sapiens_hsa054140.67146071
63Neurotrophin signaling pathway_Homo sapiens_hsa047220.66187800
64Glucagon signaling pathway_Homo sapiens_hsa049220.65962133
65Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.63622261
66Ras signaling pathway_Homo sapiens_hsa040140.61395476
67Phototransduction_Homo sapiens_hsa047440.60449249
68Rap1 signaling pathway_Homo sapiens_hsa040150.57641326
69Carbohydrate digestion and absorption_Homo sapiens_hsa049730.53648113
70Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.53040125
71Prion diseases_Homo sapiens_hsa050200.52027208
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.50706325
73Type I diabetes mellitus_Homo sapiens_hsa049400.50054457
74Histidine metabolism_Homo sapiens_hsa003400.49552452
75Thyroid hormone signaling pathway_Homo sapiens_hsa049190.49290881
76African trypanosomiasis_Homo sapiens_hsa051430.49146969
77Inositol phosphate metabolism_Homo sapiens_hsa005620.48985999
78Endocytosis_Homo sapiens_hsa041440.48563951
79mTOR signaling pathway_Homo sapiens_hsa041500.46851744
80Wnt signaling pathway_Homo sapiens_hsa043100.42367993
81Circadian rhythm_Homo sapiens_hsa047100.41766905
82Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.41617798
83Non-small cell lung cancer_Homo sapiens_hsa052230.40841857
84Alzheimers disease_Homo sapiens_hsa050100.40657515
85Bile secretion_Homo sapiens_hsa049760.39171384
86Alcoholism_Homo sapiens_hsa050340.37524855
87Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.36577843
88Insulin signaling pathway_Homo sapiens_hsa049100.36302341
89Arginine and proline metabolism_Homo sapiens_hsa003300.36158337
90Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.35369502
91Endometrial cancer_Homo sapiens_hsa052130.35069507
92Tight junction_Homo sapiens_hsa045300.34211179
93SNARE interactions in vesicular transport_Homo sapiens_hsa041300.34127307
94Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.33565003
95Renal cell carcinoma_Homo sapiens_hsa052110.33333892
96Mineral absorption_Homo sapiens_hsa049780.33174619
97Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.32253577
98Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.31949490
99Hippo signaling pathway_Homo sapiens_hsa043900.31881278
100Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.31245662
101Focal adhesion_Homo sapiens_hsa045100.30324303
102Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.30285486
103Regulation of actin cytoskeleton_Homo sapiens_hsa048100.29835347
104Rheumatoid arthritis_Homo sapiens_hsa053230.29241247
105Longevity regulating pathway - mammal_Homo sapiens_hsa042110.28498419
106Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.28448692
107Ovarian steroidogenesis_Homo sapiens_hsa049130.27946989
108Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.27882116
109Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.27830057
110Chemokine signaling pathway_Homo sapiens_hsa040620.27543029
111Fatty acid biosynthesis_Homo sapiens_hsa000610.27287457
112Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.26318828
113beta-Alanine metabolism_Homo sapiens_hsa004100.25620761
114Arginine biosynthesis_Homo sapiens_hsa002200.22017086

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