DTNA

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1locomotory exploration behavior (GO:0035641)4.64326510
2regulation of short-term neuronal synaptic plasticity (GO:0048172)4.56618669
3cellular potassium ion homeostasis (GO:0030007)4.32794007
4L-amino acid import (GO:0043092)4.29902030
5vocalization behavior (GO:0071625)4.26529797
6neuron cell-cell adhesion (GO:0007158)4.25452554
7membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.21556986
8positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.20244716
9ionotropic glutamate receptor signaling pathway (GO:0035235)4.19199138
10synaptic vesicle exocytosis (GO:0016079)4.17046104
11gamma-aminobutyric acid transport (GO:0015812)4.12743159
12regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.09416813
13glutamate receptor signaling pathway (GO:0007215)4.01890316
14glutamate secretion (GO:0014047)4.01476254
15positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.99208875
16neuronal action potential propagation (GO:0019227)3.96759097
17neurotransmitter-gated ion channel clustering (GO:0072578)3.95775792
18sodium ion export (GO:0071436)3.92859115
19synaptic vesicle maturation (GO:0016188)3.92195786
20axon ensheathment in central nervous system (GO:0032291)3.87348198
21central nervous system myelination (GO:0022010)3.87348198
22positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.77580985
23synaptic transmission, glutamatergic (GO:0035249)3.77032460
24amino acid import (GO:0043090)3.75287679
25regulation of glutamate receptor signaling pathway (GO:1900449)3.74411853
26G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.74024972
27protein localization to synapse (GO:0035418)3.68976116
28transmission of nerve impulse (GO:0019226)3.60536339
29positive regulation of synapse maturation (GO:0090129)3.53232242
30response to auditory stimulus (GO:0010996)3.52079701
31layer formation in cerebral cortex (GO:0021819)3.51381468
32regulation of synaptic vesicle exocytosis (GO:2000300)3.49825109
33cell communication by electrical coupling (GO:0010644)3.49572183
34neuron-neuron synaptic transmission (GO:0007270)3.48042925
35C4-dicarboxylate transport (GO:0015740)3.46222624
36cerebellar granule cell differentiation (GO:0021707)3.45985936
37potassium ion import (GO:0010107)3.45112508
38negative regulation of synaptic transmission, GABAergic (GO:0032229)3.44167022
39cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.43286040
40regulation of synapse structural plasticity (GO:0051823)3.41577174
41long-term memory (GO:0007616)3.41283966
42regulation of cell communication by electrical coupling (GO:0010649)3.40155976
43exploration behavior (GO:0035640)3.37884186
44regulation of neuronal synaptic plasticity (GO:0048168)3.36123004
45neurotransmitter secretion (GO:0007269)3.36075710
46presynaptic membrane assembly (GO:0097105)3.32707928
47regulation of long-term neuronal synaptic plasticity (GO:0048169)3.31880761
48regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.31076213
49auditory behavior (GO:0031223)3.30668387
50regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.30629692
51regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.28597515
52positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.26128057
53positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.24370733
54positive regulation of potassium ion transmembrane transport (GO:1901381)3.22151895
55postsynaptic membrane organization (GO:0001941)3.21942075
56positive regulation of dendritic spine development (GO:0060999)3.20405110
57dendrite morphogenesis (GO:0048813)3.19600128
58neuron recognition (GO:0008038)3.18228234
59proline transport (GO:0015824)3.17081169
60alanine transport (GO:0032328)3.16195274
61cell communication involved in cardiac conduction (GO:0086065)3.14932253
62synaptic vesicle docking involved in exocytosis (GO:0016081)3.13349724
63dendritic spine morphogenesis (GO:0060997)3.13038089
64presynaptic membrane organization (GO:0097090)3.12974055
65regulation of synaptic transmission, glutamatergic (GO:0051966)3.11465947
66potassium ion homeostasis (GO:0055075)3.11150261
67regulation of synaptic vesicle transport (GO:1902803)3.10876717
68axonal fasciculation (GO:0007413)3.09944403
69gamma-aminobutyric acid signaling pathway (GO:0007214)3.07296058
70regulation of excitatory postsynaptic membrane potential (GO:0060079)3.06612966
71neurotransmitter uptake (GO:0001504)3.05520226
72cellular sodium ion homeostasis (GO:0006883)3.04950490
73regulation of neurotransmitter secretion (GO:0046928)3.03705342
74regulation of neurotransmitter transport (GO:0051588)3.02385204
75L-glutamate transport (GO:0015813)3.01403417
76cerebellar Purkinje cell differentiation (GO:0021702)3.00356657
77regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.00263938
78membrane depolarization during action potential (GO:0086010)2.97643505
79detection of calcium ion (GO:0005513)2.96081579
80neurotransmitter transport (GO:0006836)2.95974316
81regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.93608696
82regulation of postsynaptic membrane potential (GO:0060078)2.93255835
83regulation of synapse maturation (GO:0090128)2.92558463
84regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.91680655
85long-term synaptic potentiation (GO:0060291)2.91206329
86response to histamine (GO:0034776)2.89717943
87regulation of dendritic spine development (GO:0060998)2.89338774
88regulation of synaptic plasticity (GO:0048167)2.87550317
89positive regulation of potassium ion transport (GO:0043268)2.87375849
90regulation of membrane repolarization (GO:0060306)2.86024737
91neuronal ion channel clustering (GO:0045161)2.85899992
92regulation of cardiac muscle cell contraction (GO:0086004)2.85410350
93synapse assembly (GO:0007416)2.84981383
94establishment of mitochondrion localization (GO:0051654)2.84492372
95regulation of actin filament-based movement (GO:1903115)2.81803059
96adult walking behavior (GO:0007628)2.81801725
97regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.81692714
98astrocyte differentiation (GO:0048708)2.79604303
99regulation of dendritic spine morphogenesis (GO:0061001)2.79274452
100regulation of respiratory system process (GO:0044065)2.79251715
101regulation of neurotransmitter levels (GO:0001505)2.78409652
102positive regulation of membrane potential (GO:0045838)2.78113014
103regulation of neurotransmitter uptake (GO:0051580)2.78063829
104mechanosensory behavior (GO:0007638)2.76879977
105acidic amino acid transport (GO:0015800)2.76840859
106astrocyte development (GO:0014002)2.76320103
107synaptic vesicle endocytosis (GO:0048488)2.75917368
108regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.75645340
109neuromuscular process controlling balance (GO:0050885)2.74896152
110negative regulation of astrocyte differentiation (GO:0048712)2.74865989
111sarcoplasmic reticulum calcium ion transport (GO:0070296)2.74563828
112regulation of vesicle fusion (GO:0031338)2.73510278
113membrane hyperpolarization (GO:0060081)2.72610630
114membrane depolarization (GO:0051899)2.70184746
115negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.68916511
116synapse organization (GO:0050808)2.68661054
117regulation of voltage-gated calcium channel activity (GO:1901385)2.68559221
118negative regulation of cytosolic calcium ion concentration (GO:0051481)2.67871202
119positive regulation of synapse assembly (GO:0051965)2.66280792

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.36577424
2GBX2_23144817_ChIP-Seq_PC3_Human3.51098849
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.99203280
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.92795676
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.81874697
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.58110263
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.58110263
8SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.50946702
9SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.44341429
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.43734822
11* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.42995832
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.41801936
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.38693865
14EED_16625203_ChIP-ChIP_MESCs_Mouse2.36741545
15DROSHA_22980978_ChIP-Seq_HELA_Human2.33554488
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.28119778
17AR_21572438_ChIP-Seq_LNCaP_Human2.17909488
18REST_21632747_ChIP-Seq_MESCs_Mouse2.17908433
19RNF2_27304074_Chip-Seq_ESCs_Mouse2.14185602
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.09254050
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.04268110
22RARB_27405468_Chip-Seq_BRAIN_Mouse1.93736038
23IKZF1_21737484_ChIP-ChIP_HCT116_Human1.86660773
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.78555992
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.76449375
26CTBP2_25329375_ChIP-Seq_LNCAP_Human1.71326639
27REST_18959480_ChIP-ChIP_MESCs_Mouse1.69412394
28CTBP1_25329375_ChIP-Seq_LNCAP_Human1.63953928
29GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.61354346
30* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.60611961
31SMAD4_21799915_ChIP-Seq_A2780_Human1.60400996
32CBX2_27304074_Chip-Seq_ESCs_Mouse1.56412167
33RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.56006823
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.54169374
35ZFP57_27257070_Chip-Seq_ESCs_Mouse1.52997032
36PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.51087736
37PIAS1_25552417_ChIP-Seq_VCAP_Human1.50593329
38TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.49284098
39CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.48526781
40TAF15_26573619_Chip-Seq_HEK293_Human1.45940915
41MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.45392107
42SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.45145711
43RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.44499160
44CDX2_19796622_ChIP-Seq_MESCs_Mouse1.43403707
45* P300_19829295_ChIP-Seq_ESCs_Human1.42697638
46* SMAD3_21741376_ChIP-Seq_EPCs_Human1.39353553
47ERG_21242973_ChIP-ChIP_JURKAT_Human1.37299119
48* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33642446
49PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.31523130
50AR_25329375_ChIP-Seq_VCAP_Human1.31290304
51OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30073336
52RING1B_27294783_Chip-Seq_ESCs_Mouse1.27727750
53SMAD_19615063_ChIP-ChIP_OVARY_Human1.27568141
54ZNF274_21170338_ChIP-Seq_K562_Hela1.26665337
55STAT3_23295773_ChIP-Seq_U87_Human1.25420451
56NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.24813452
57* SOX2_21211035_ChIP-Seq_LN229_Gbm1.24596848
58EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.24161927
59TP53_16413492_ChIP-PET_HCT116_Human1.23580388
60* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.20807770
61TOP2B_26459242_ChIP-Seq_MCF-7_Human1.20385337
62NR3C1_23031785_ChIP-Seq_PC12_Mouse1.19435387
63IGF1R_20145208_ChIP-Seq_DFB_Human1.18892313
64AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.17664906
65AR_19668381_ChIP-Seq_PC3_Human1.17542949
66* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.16930965
67WT1_25993318_ChIP-Seq_PODOCYTE_Human1.16439756
68TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.15829725
69CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.15408454
70ARNT_22903824_ChIP-Seq_MCF-7_Human1.14705158
71* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.11817249
72* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.11755052
73* TCF4_23295773_ChIP-Seq_U87_Human1.10820053
74AHR_22903824_ChIP-Seq_MCF-7_Human1.10518992
75BMI1_23680149_ChIP-Seq_NPCS_Mouse1.09434262
76LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08261774
77* SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.07608088
78RING1B_27294783_Chip-Seq_NPCs_Mouse1.05732708
79UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.05230205
80TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03683586
81POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.03683586
82TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03367473
83FUS_26573619_Chip-Seq_HEK293_Human1.02860968
84* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02631683
85RNF2_27304074_Chip-Seq_NSC_Mouse1.02582819
86TP53_18474530_ChIP-ChIP_U2OS_Human1.02538099
87* RUNX2_22187159_ChIP-Seq_PCA_Human1.02362844
88CTNNB1_20460455_ChIP-Seq_HCT116_Human1.02360485
89VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.02033173
90EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.00880454
91RXR_22108803_ChIP-Seq_LS180_Human1.00102035
92* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98463743
93P53_22127205_ChIP-Seq_FIBROBLAST_Human0.96943209
94OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.96056418
95BCAT_22108803_ChIP-Seq_LS180_Human0.95868016
96TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.95816748
97SMAD4_21741376_ChIP-Seq_HESCs_Human0.95523251
98* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.95107251
99CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95100532
100ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.94875882
101ER_23166858_ChIP-Seq_MCF-7_Human0.94674722
102* EP300_21415370_ChIP-Seq_HL-1_Mouse0.94254154
103TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.93476048
104SOX9_26525672_Chip-Seq_HEART_Mouse0.93378825
105PRDM14_20953172_ChIP-Seq_ESCs_Human0.93371973
106SMAD3_21741376_ChIP-Seq_HESCs_Human0.92512813
107SMAD3_21741376_ChIP-Seq_ESCs_Human0.91784510
108RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.91399121
109RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.90456064
110STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.89919019
111NANOG_18555785_Chip-Seq_ESCs_Mouse0.89812224
112THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.89231263
113TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.89216790
114KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.88522384
115CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.88059202

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.04462969
2MP0003880_abnormal_central_pattern3.78952150
3MP0003635_abnormal_synaptic_transmissio3.47932460
4MP0004270_analgesia3.36210396
5MP0009046_muscle_twitch3.09022756
6MP0009745_abnormal_behavioral_response2.91283997
7MP0001486_abnormal_startle_reflex2.88726331
8MP0002064_seizures2.82761626
9MP0002063_abnormal_learning/memory/cond2.70641411
10MP0005423_abnormal_somatic_nervous2.63146888
11MP0002572_abnormal_emotion/affect_behav2.52091545
12MP0002272_abnormal_nervous_system2.45540337
13MP0001968_abnormal_touch/_nociception2.34262490
14MP0002734_abnormal_mechanical_nocicepti2.28804312
15MP0001440_abnormal_grooming_behavior2.26292178
16MP0004885_abnormal_endolymph2.20276560
17MP0003329_amyloid_beta_deposits2.03256823
18MP0004858_abnormal_nervous_system2.00404405
19MP0002067_abnormal_sensory_capabilities1.94909673
20MP0002822_catalepsy1.94206970
21MP0003690_abnormal_glial_cell1.93873561
22MP0000778_abnormal_nervous_system1.93848342
23MP0008569_lethality_at_weaning1.93378154
24MP0001501_abnormal_sleep_pattern1.92974655
25MP0009780_abnormal_chondrocyte_physiolo1.92469635
26MP0002736_abnormal_nociception_after1.89780218
27MP0005646_abnormal_pituitary_gland1.84505714
28MP0001984_abnormal_olfaction1.79623303
29MP0002733_abnormal_thermal_nociception1.78763734
30MP0002735_abnormal_chemical_nociception1.74468039
31MP0001485_abnormal_pinna_reflex1.71591039
32MP0000751_myopathy1.69233454
33MP0001970_abnormal_pain_threshold1.66753187
34MP0002557_abnormal_social/conspecific_i1.66249576
35MP0002184_abnormal_innervation1.57441885
36MP0001502_abnormal_circadian_rhythm1.54098334
37MP0004142_abnormal_muscle_tone1.54068885
38MP0004924_abnormal_behavior1.52911741
39MP0005386_behavior/neurological_phenoty1.52911741
40MP0004145_abnormal_muscle_electrophysio1.52341195
41* MP0002882_abnormal_neuron_morphology1.44362515
42MP0005167_abnormal_blood-brain_barrier1.44100799
43MP0000955_abnormal_spinal_cord1.44000292
44MP0003633_abnormal_nervous_system1.42097288
45MP0000920_abnormal_myelination1.40578721
46MP0005645_abnormal_hypothalamus_physiol1.39186430
47MP0004215_abnormal_myocardial_fiber1.38935098
48MP0003634_abnormal_glial_cell1.36874778
49MP0006276_abnormal_autonomic_nervous1.33609882
50* MP0002066_abnormal_motor_capabilities/c1.32434363
51MP0003878_abnormal_ear_physiology1.28614008
52MP0005377_hearing/vestibular/ear_phenot1.28614008
53MP0003631_nervous_system_phenotype1.28393000
54MP0001529_abnormal_vocalization1.27009780
55MP0001905_abnormal_dopamine_level1.26512339
56MP0004742_abnormal_vestibular_system1.23795776
57MP0004811_abnormal_neuron_physiology1.22110295
58MP0005551_abnormal_eye_electrophysiolog1.20342687
59MP0003137_abnormal_impulse_conducting1.17792538
60MP0003632_abnormal_nervous_system1.15367174
61MP0005171_absent_coat_pigmentation1.14575098
62MP0002229_neurodegeneration1.14255516
63MP0001963_abnormal_hearing_physiology1.13687233
64MP0002152_abnormal_brain_morphology1.13483866
65MP0003879_abnormal_hair_cell1.12704173
66MP0003646_muscle_fatigue1.12618533
67MP0000569_abnormal_digit_pigmentation1.10982744
68MP0002909_abnormal_adrenal_gland1.08263959
69MP0003136_yellow_coat_color1.04223514
70MP0001299_abnormal_eye_distance/1.03218744
71MP0002638_abnormal_pupillary_reflex1.01055569
72* MP0002752_abnormal_somatic_nervous0.95359581
73MP0004233_abnormal_muscle_weight0.94242536
74MP0004085_abnormal_heartbeat0.92087507
75MP0001188_hyperpigmentation0.91525195
76MP0002653_abnormal_ependyma_morphology0.90345953
77MP0000026_abnormal_inner_ear0.88718439
78MP0005623_abnormal_meninges_morphology0.87582148
79MP0003123_paternal_imprinting0.86241345
80MP0001177_atelectasis0.85883922
81MP0004043_abnormal_pH_regulation0.84752452
82MP0002090_abnormal_vision0.84171629
83MP0004147_increased_porphyrin_level0.83763184
84MP0000631_abnormal_neuroendocrine_gland0.82653117
85MP0000604_amyloidosis0.82342332
86MP0005394_taste/olfaction_phenotype0.80750224
87MP0005499_abnormal_olfactory_system0.80750224
88MP0002837_dystrophic_cardiac_calcinosis0.79671729
89MP0004084_abnormal_cardiac_muscle0.79663529
90MP0000747_muscle_weakness0.78488397
91MP0003283_abnormal_digestive_organ0.78326740
92MP0003787_abnormal_imprinting0.77936183
93MP0000749_muscle_degeneration0.77860424
94MP0005409_darkened_coat_color0.77636717
95MP0000579_abnormal_nail_morphology0.77067230
96MP0004036_abnormal_muscle_relaxation0.76649548
97MP0003950_abnormal_plasma_membrane0.75797232
98MP0006072_abnormal_retinal_apoptosis0.73502454
99MP0002069_abnormal_eating/drinking_beha0.73306365
100MP0004484_altered_response_of0.73148104
101MP0003122_maternal_imprinting0.73123407
102MP0005620_abnormal_muscle_contractility0.72078918
103MP0003121_genomic_imprinting0.69084309
104MP0002106_abnormal_muscle_physiology0.68509760
105MP0000566_synostosis0.67334322
106MP0002332_abnormal_exercise_endurance0.67026789
107MP0005187_abnormal_penis_morphology0.66725249
108MP0001346_abnormal_lacrimal_gland0.65991786
109MP0003075_altered_response_to0.65037525
110MP0005253_abnormal_eye_physiology0.64359226
111MP0009384_cardiac_valve_regurgitation0.63355450
112MP0002972_abnormal_cardiac_muscle0.63128536
113MP0008874_decreased_physiological_sensi0.62743536
114MP0004130_abnormal_muscle_cell0.60570198
115* MP0004087_abnormal_muscle_fiber0.59923250
116MP0005369_muscle_phenotype0.59636745

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.22479059
2Myokymia (HP:0002411)4.99222535
3Focal seizures (HP:0007359)4.62548722
4Epileptic encephalopathy (HP:0200134)4.33234045
5Aplasia involving bones of the upper limbs (HP:0009823)3.97510397
6Aplasia of the phalanges of the hand (HP:0009802)3.97510397
7Aplasia involving bones of the extremities (HP:0009825)3.97510397
8Progressive cerebellar ataxia (HP:0002073)3.95385648
9Megalencephaly (HP:0001355)3.85002548
10Action tremor (HP:0002345)3.78395234
11Neurofibrillary tangles (HP:0002185)3.49763653
12Atonic seizures (HP:0010819)3.46118646
13Febrile seizures (HP:0002373)3.45201826
14Dysdiadochokinesis (HP:0002075)3.36760767
15Hemiparesis (HP:0001269)3.31882383
16Generalized tonic-clonic seizures (HP:0002069)3.23337194
17Visual hallucinations (HP:0002367)3.14868032
18Diplopia (HP:0000651)3.14681706
19Abnormality of binocular vision (HP:0011514)3.14681706
20Bundle branch block (HP:0011710)3.12766301
21Supranuclear gaze palsy (HP:0000605)3.11248216
22Broad-based gait (HP:0002136)3.04355474
23Hyporeflexia of lower limbs (HP:0002600)3.04092641
24Dialeptic seizures (HP:0011146)2.98802227
25Dysmetria (HP:0001310)2.98361770
26Exercise-induced muscle cramps (HP:0003710)2.95953206
27Absence seizures (HP:0002121)2.93305711
28Hyperventilation (HP:0002883)2.88269494
29Ankle clonus (HP:0011448)2.87748664
30Gaze-evoked nystagmus (HP:0000640)2.84066162
31Cerebral inclusion bodies (HP:0100314)2.82769522
32Hemiplegia (HP:0002301)2.70931081
33Muscle fiber inclusion bodies (HP:0100299)2.66372897
34Exercise-induced myalgia (HP:0003738)2.63894525
35Scanning speech (HP:0002168)2.61794855
36Truncal ataxia (HP:0002078)2.60821059
37Postural instability (HP:0002172)2.59985262
38Abnormal eating behavior (HP:0100738)2.57809991
39Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.52769862
40Nemaline bodies (HP:0003798)2.49738037
41Clumsiness (HP:0002312)2.45915137
42Intention tremor (HP:0002080)2.43378318
43Sudden death (HP:0001699)2.38102816
44Genetic anticipation (HP:0003743)2.37226786
45Impaired vibration sensation in the lower limbs (HP:0002166)2.35523344
46Spastic gait (HP:0002064)2.32891194
47Urinary bladder sphincter dysfunction (HP:0002839)2.30892584
48Depression (HP:0000716)2.30337849
49Muscle hypertrophy of the lower extremities (HP:0008968)2.29171703
50Muscle fiber splitting (HP:0003555)2.26854968
51Calf muscle hypertrophy (HP:0008981)2.25445120
52Akinesia (HP:0002304)2.24756702
53Tetraplegia (HP:0002445)2.24545160
54Lower limb muscle weakness (HP:0007340)2.22515178
55Prolonged QT interval (HP:0001657)2.20826965
56Torticollis (HP:0000473)2.20591560
57Abnormality of the corticospinal tract (HP:0002492)2.19178217
58Heart block (HP:0012722)2.19068124
59Anxiety (HP:0000739)2.18875999
60Retinal dysplasia (HP:0007973)2.18582637
61Sleep apnea (HP:0010535)2.17977574
62Fetal akinesia sequence (HP:0001989)2.15650446
63Poor eye contact (HP:0000817)2.14297778
64Mutism (HP:0002300)2.14018482
65Drooling (HP:0002307)2.13905553
66Excessive salivation (HP:0003781)2.13905553
67Obstructive sleep apnea (HP:0002870)2.12564369
68Myotonia (HP:0002486)2.12203172
69EMG: myopathic abnormalities (HP:0003458)2.10708151
70Humeroradial synostosis (HP:0003041)2.10290080
71Synostosis involving the elbow (HP:0003938)2.10290080
72Status epilepticus (HP:0002133)2.09042144
73Dynein arm defect of respiratory motile cilia (HP:0012255)2.06215322
74Absent/shortened dynein arms (HP:0200106)2.06215322
75Degeneration of the lateral corticospinal tracts (HP:0002314)2.03985030
76Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.03985030
77Impaired social interactions (HP:0000735)2.02718594
78Abnormal social behavior (HP:0012433)2.02718594
79Difficulty running (HP:0009046)1.99332114
80Epileptiform EEG discharges (HP:0011182)1.98898564
81Pheochromocytoma (HP:0002666)1.97122519
82Frequent falls (HP:0002359)1.96240906
83Clonus (HP:0002169)1.95640779
84Urinary urgency (HP:0000012)1.95516949
85Papilledema (HP:0001085)1.91956690
86Morphological abnormality of the pyramidal tract (HP:0002062)1.91288031
87Peripheral hypomyelination (HP:0007182)1.91164897
88Thickened helices (HP:0000391)1.91054840
89Insidious onset (HP:0003587)1.90496016
90Termporal pattern (HP:0011008)1.90496016
91EMG: neuropathic changes (HP:0003445)1.90288656
92Narrow nasal bridge (HP:0000446)1.89590756
93EEG with generalized epileptiform discharges (HP:0011198)1.89546499
94Dysmetric saccades (HP:0000641)1.89387772
95Polyphagia (HP:0002591)1.89348700
96Split foot (HP:0001839)1.88556214
97Abnormal atrioventricular conduction (HP:0005150)1.87109351
98Abnormality of the calf musculature (HP:0001430)1.87007006
99Abnormality of the foot musculature (HP:0001436)1.86175769
100Cerebral hypomyelination (HP:0006808)1.85486159
101Impaired smooth pursuit (HP:0007772)1.83275227
102Amblyopia (HP:0000646)1.82990670
103Hypsarrhythmia (HP:0002521)1.82484874
104Bradykinesia (HP:0002067)1.82458055
105Type 1 muscle fiber predominance (HP:0003803)1.82380796
106Abnormal ciliary motility (HP:0012262)1.81518655
107Abnormality of the lower motor neuron (HP:0002366)1.80676453
108Subaortic stenosis (HP:0001682)1.80458363
109Limb dystonia (HP:0002451)1.79973844
110Stereotypic behavior (HP:0000733)1.79463040
111Syncope (HP:0001279)1.79224170
112Gait imbalance (HP:0002141)1.78656285
113Abnormal EKG (HP:0003115)1.76826605
114Mixed hearing impairment (HP:0000410)1.76803750
115Increased circulating renin level (HP:0000848)1.76229707
116Progressive inability to walk (HP:0002505)1.74885156
117Impaired vibratory sensation (HP:0002495)1.73944729
118Specific learning disability (HP:0001328)1.71142540
119Rigidity (HP:0002063)1.70377736
120Abnormality of saccadic eye movements (HP:0000570)1.69272529
121Bronchomalacia (HP:0002780)1.66641379
122Abnormality of ocular smooth pursuit (HP:0000617)1.65614272
123Bradycardia (HP:0001662)1.65487889
124Gait ataxia (HP:0002066)1.65184649
125Abnormality of the middle phalanges of the toes (HP:0010183)1.64630534
126Generalized myoclonic seizures (HP:0002123)1.64239196
127Neuronal loss in central nervous system (HP:0002529)1.63478268
128Alacrima (HP:0000522)1.63384742
129Blue irides (HP:0000635)1.63099231
130Absent speech (HP:0001344)1.62627507
131Neuroendocrine neoplasm (HP:0100634)1.62223795
132Confusion (HP:0001289)1.60774557

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TNIK4.09507673
2NTRK34.04592131
3EPHA43.92583731
4NTRK22.88985144
5PHKG22.54284219
6PHKG12.54284219
7MAP3K42.43723969
8CASK2.43316758
9MARK12.40359105
10MAP3K92.30629008
11MINK12.03619279
12PRPF4B2.02887486
13LMTK22.01778980
14MAP2K72.00844406
15PAK61.82299995
16MUSK1.63106162
17PRKD31.62423066
18MAPK131.58616777
19NTRK11.53153308
20MAP2K41.52455469
21DAPK21.51557632
22OXSR11.42566452
23SGK4941.38463353
24SGK2231.38463353
25CDK51.33184636
26STK391.29990219
27PNCK1.23664884
28SGK21.18292332
29TYRO31.16815318
30KSR21.16365657
31CAMK2A1.14585136
32CDK191.12174304
33KSR11.09197824
34CAMKK11.08621872
35PRKCG1.05988162
36PAK31.04658965
37ARAF1.03997569
38CAMK2B1.03881746
39WNK10.99406887
40MAP3K120.95823133
41SGK30.94388843
42UHMK10.92590879
43STK380.91914944
44NEK60.90881256
45PLK20.87457585
46CSNK1G20.86970666
47CAMK2D0.85703033
48LATS20.85189829
49FGR0.84998967
50CAMKK20.82489749
51CAMK2G0.82488468
52PINK10.82351873
53GRK50.82250643
54FGFR20.81765714
55MAP3K130.78277957
56MAPK150.77858728
57ROCK20.77753022
58DMPK0.77611211
59PKN10.76304896
60CAMK40.75537153
61MARK20.75509043
62DYRK1A0.74426263
63CAMK10.74136488
64PRKCE0.73770681
65CAMK1G0.73474736
66RIPK40.72424795
67CDK180.72146264
68SGK10.72025470
69SIK20.71617958
70CDK150.71238490
71OBSCN0.68525768
72CDC42BPA0.67594600
73FES0.66854291
74MAPK120.66701285
75LIMK10.66261720
76PRKCH0.66026792
77CDK140.65805519
78STK110.65114487
79CDK11A0.59723660
80BCR0.58575039
81DAPK10.56797094
82PTK2B0.56747922
83ROCK10.56211705
84PDPK10.54704574
85ERBB20.52588278
86RPS6KA30.50600275
87PIK3CA0.50509436
88PRKG10.50381659
89RET0.49952332
90DYRK20.48277643
91ICK0.47034168
92ADRBK10.46586325
93FYN0.46283274
94PRKCZ0.45884050
95MAP3K70.45688494
96DDR20.45548178
97MAP3K60.45430327
98WNK30.44949117
99CSNK1A1L0.44712884
100CSNK1G30.44212412
101PRKACA0.41962607
102TTN0.41765450
103TNK20.41550327
104SIK10.41526243
105CSNK1G10.40462798
106PRKD10.40106668
107MAP3K20.39789956
108WNK40.39777768
109RIPK10.39602809
110MAPK100.39401768
111PDK10.39017958
112PRKAA10.38666439
113MAPKAPK50.38661205
114CSNK1A10.38568914
115CDK30.38320584
116ERBB30.38043906
117PRKACB0.37486275
118MAPK40.36812226
119CSNK1D0.36321057
120PRKCA0.32936125
121RPS6KB10.32517632

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.54452935
2GABAergic synapse_Homo sapiens_hsa047272.71943134
3Glutamatergic synapse_Homo sapiens_hsa047242.64691267
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.52185297
5Circadian entrainment_Homo sapiens_hsa047132.50420268
6Olfactory transduction_Homo sapiens_hsa047402.40290033
7Nitrogen metabolism_Homo sapiens_hsa009102.40054909
8Morphine addiction_Homo sapiens_hsa050322.39035935
9Synaptic vesicle cycle_Homo sapiens_hsa047212.32057336
10Long-term potentiation_Homo sapiens_hsa047202.12221228
11Salivary secretion_Homo sapiens_hsa049702.09386498
12Amphetamine addiction_Homo sapiens_hsa050311.95893214
13Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.93369352
14Gastric acid secretion_Homo sapiens_hsa049711.92269395
15Insulin secretion_Homo sapiens_hsa049111.91182241
16Dopaminergic synapse_Homo sapiens_hsa047281.79039910
17Fatty acid biosynthesis_Homo sapiens_hsa000611.77507573
18Taste transduction_Homo sapiens_hsa047421.72354019
19Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.70180694
20Serotonergic synapse_Homo sapiens_hsa047261.65012431
21Cholinergic synapse_Homo sapiens_hsa047251.62767713
22Calcium signaling pathway_Homo sapiens_hsa040201.60917285
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.57495481
24Long-term depression_Homo sapiens_hsa047301.55361175
25Cocaine addiction_Homo sapiens_hsa050301.54908303
26Renin secretion_Homo sapiens_hsa049241.50835823
27Aldosterone synthesis and secretion_Homo sapiens_hsa049251.44986424
28Oxytocin signaling pathway_Homo sapiens_hsa049211.44159732
29Cardiac muscle contraction_Homo sapiens_hsa042601.39810829
30cAMP signaling pathway_Homo sapiens_hsa040241.32195061
31Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.28272958
32Axon guidance_Homo sapiens_hsa043601.22654126
33GnRH signaling pathway_Homo sapiens_hsa049121.19864709
34Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.19709942
35Dorso-ventral axis formation_Homo sapiens_hsa043201.19342928
36Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.15740529
37Dilated cardiomyopathy_Homo sapiens_hsa054141.14712626
38Gap junction_Homo sapiens_hsa045401.12578880
39Collecting duct acid secretion_Homo sapiens_hsa049661.06555737
40Arginine and proline metabolism_Homo sapiens_hsa003301.03528286
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.02900225
42Vitamin B6 metabolism_Homo sapiens_hsa007501.01969666
43Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.01585181
44Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.00151231
45Pancreatic secretion_Homo sapiens_hsa049720.98548012
46Histidine metabolism_Homo sapiens_hsa003400.97403673
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.95417772
48Phosphatidylinositol signaling system_Homo sapiens_hsa040700.95040243
49Melanogenesis_Homo sapiens_hsa049160.94561764
50Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.93570501
51Phospholipase D signaling pathway_Homo sapiens_hsa040720.90892291
52Circadian rhythm_Homo sapiens_hsa047100.90780403
53ErbB signaling pathway_Homo sapiens_hsa040120.87885602
54Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.85632730
55Estrogen signaling pathway_Homo sapiens_hsa049150.84359212
56beta-Alanine metabolism_Homo sapiens_hsa004100.83724481
57Type II diabetes mellitus_Homo sapiens_hsa049300.82091849
58Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.81266695
59Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.79695044
60Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.78146340
61Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.75204168
62Bile secretion_Homo sapiens_hsa049760.74457228
63Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.72524698
64Thyroid hormone synthesis_Homo sapiens_hsa049180.72450094
65Glioma_Homo sapiens_hsa052140.70766002
66Choline metabolism in cancer_Homo sapiens_hsa052310.69216116
67Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.65646856
68Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.64357843
69Phototransduction_Homo sapiens_hsa047440.63771275
70Ras signaling pathway_Homo sapiens_hsa040140.63532739
71Arginine biosynthesis_Homo sapiens_hsa002200.63324105
72Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.63293878
73Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.63242869
74Prion diseases_Homo sapiens_hsa050200.63011728
75MAPK signaling pathway_Homo sapiens_hsa040100.60494925
76Propanoate metabolism_Homo sapiens_hsa006400.59381201
77Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57249761
78Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.56690108
79Vibrio cholerae infection_Homo sapiens_hsa051100.56241362
80Rap1 signaling pathway_Homo sapiens_hsa040150.55891310
81Ether lipid metabolism_Homo sapiens_hsa005650.54802047
82Mineral absorption_Homo sapiens_hsa049780.54657103
83Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.54641181
84Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.54089913
85Glucagon signaling pathway_Homo sapiens_hsa049220.53793897
86Carbohydrate digestion and absorption_Homo sapiens_hsa049730.53730877
87Fatty acid metabolism_Homo sapiens_hsa012120.53077217
88Alzheimers disease_Homo sapiens_hsa050100.52848470
89Sphingolipid signaling pathway_Homo sapiens_hsa040710.52585624
902-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.48367634
91Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.48315913
92Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.48259315
93Wnt signaling pathway_Homo sapiens_hsa043100.46365731
94Glycerophospholipid metabolism_Homo sapiens_hsa005640.45977015
95Hippo signaling pathway_Homo sapiens_hsa043900.45043476
96Inositol phosphate metabolism_Homo sapiens_hsa005620.44869542
97Butanoate metabolism_Homo sapiens_hsa006500.44756572
98Ovarian steroidogenesis_Homo sapiens_hsa049130.43304937
99Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.43076036
100AMPK signaling pathway_Homo sapiens_hsa041520.42347590
101Oocyte meiosis_Homo sapiens_hsa041140.41909724
102Renal cell carcinoma_Homo sapiens_hsa052110.41879650
103Tight junction_Homo sapiens_hsa045300.41015939
104Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.39573369
105Insulin signaling pathway_Homo sapiens_hsa049100.36894805
106PPAR signaling pathway_Homo sapiens_hsa033200.36568574
107Hedgehog signaling pathway_Homo sapiens_hsa043400.36027568
108Alcoholism_Homo sapiens_hsa050340.35772448
109Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.34719831
110Longevity regulating pathway - mammal_Homo sapiens_hsa042110.34687601
111Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.34249063
112Oxidative phosphorylation_Homo sapiens_hsa001900.34098443
113Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.33795916
114Neurotrophin signaling pathway_Homo sapiens_hsa047220.32410412
115Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.30036730

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