DNM1

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 dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.90172873
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.68203656
3locomotory exploration behavior (GO:0035641)6.41351440
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.98620630
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.97260513
6glutamate secretion (GO:0014047)5.73448960
7synaptic vesicle exocytosis (GO:0016079)5.63636728
8synaptic vesicle docking involved in exocytosis (GO:0016081)5.54279974
9vocalization behavior (GO:0071625)5.53776499
10regulation of synaptic vesicle exocytosis (GO:2000300)5.39948667
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.28920639
12neuronal action potential propagation (GO:0019227)5.02210761
13regulation of glutamate receptor signaling pathway (GO:1900449)4.98218614
14ionotropic glutamate receptor signaling pathway (GO:0035235)4.91398007
15neurotransmitter secretion (GO:0007269)4.86598925
16regulation of synaptic vesicle transport (GO:1902803)4.83088278
17regulation of neuronal synaptic plasticity (GO:0048168)4.75885660
18exploration behavior (GO:0035640)4.74575131
19regulation of long-term neuronal synaptic plasticity (GO:0048169)4.67456447
20cellular potassium ion homeostasis (GO:0030007)4.62982050
21protein localization to synapse (GO:0035418)4.60204284
22sodium ion export (GO:0071436)4.52483837
23layer formation in cerebral cortex (GO:0021819)4.41871425
24gamma-aminobutyric acid transport (GO:0015812)4.38773292
25amino acid import (GO:0043090)4.37891397
26synaptic transmission, glutamatergic (GO:0035249)4.35075297
27regulation of synapse structural plasticity (GO:0051823)4.27144649
28glutamate receptor signaling pathway (GO:0007215)4.26991270
29dendritic spine morphogenesis (GO:0060997)4.23080582
30long-term memory (GO:0007616)4.20820073
31central nervous system myelination (GO:0022010)4.13941237
32axon ensheathment in central nervous system (GO:0032291)4.13941237
33postsynaptic membrane organization (GO:0001941)4.09851888
34proline transport (GO:0015824)4.05423115
35regulation of synapse maturation (GO:0090128)4.04331829
36positive regulation of membrane potential (GO:0045838)3.97773258
37neuron-neuron synaptic transmission (GO:0007270)3.96330529
38regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.93871640
39neurotransmitter-gated ion channel clustering (GO:0072578)3.92840113
40neuron cell-cell adhesion (GO:0007158)3.92449443
41membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.90710013
42regulation of excitatory postsynaptic membrane potential (GO:0060079)3.89293579
43neurotransmitter transport (GO:0006836)3.88864142
44cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.84232109
45cerebellar Purkinje cell differentiation (GO:0021702)3.82585942
46negative regulation of dendrite morphogenesis (GO:0050774)3.81669183
47neuromuscular process controlling posture (GO:0050884)3.80392595
48positive regulation of dendritic spine morphogenesis (GO:0061003)3.78518318
49neuromuscular process controlling balance (GO:0050885)3.78076522
50glycine transport (GO:0015816)3.75206343
51activation of protein kinase A activity (GO:0034199)3.72559914
52regulation of synaptic plasticity (GO:0048167)3.72355684
53regulation of postsynaptic membrane potential (GO:0060078)3.67969526
54positive regulation of synapse maturation (GO:0090129)3.67015255
55synaptic vesicle endocytosis (GO:0048488)3.64682590
56regulation of neurotransmitter secretion (GO:0046928)3.61463891
57regulation of neurotransmitter levels (GO:0001505)3.60350208
58cell communication by electrical coupling (GO:0010644)3.59727297
59regulation of dendritic spine morphogenesis (GO:0061001)3.58559447
60L-amino acid import (GO:0043092)3.47056753
61transmission of nerve impulse (GO:0019226)3.45764874
62cytoskeletal anchoring at plasma membrane (GO:0007016)3.42366022
63regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.39283239
64regulation of ARF protein signal transduction (GO:0032012)3.38002818
65long-term synaptic potentiation (GO:0060291)3.37485394
66gamma-aminobutyric acid signaling pathway (GO:0007214)3.33656226
67positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.33625773
68regulation of vesicle fusion (GO:0031338)3.33583730
69regulation of neurotransmitter transport (GO:0051588)3.31521217
70regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.31124017
71chemosensory behavior (GO:0007635)3.30406098
72potassium ion import (GO:0010107)3.30042496
73acidic amino acid transport (GO:0015800)3.26273951
74positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.26159155
75vesicle docking involved in exocytosis (GO:0006904)3.24644833
76neurotransmitter uptake (GO:0001504)3.24383055
77membrane depolarization during action potential (GO:0086010)3.22829292
78neuron recognition (GO:0008038)3.22688209
79positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.21576985
80neuromuscular synaptic transmission (GO:0007274)3.21215898
81cell differentiation in hindbrain (GO:0021533)3.21144189
82dendrite morphogenesis (GO:0048813)3.20761864
83synaptic vesicle transport (GO:0048489)3.20676830
84establishment of synaptic vesicle localization (GO:0097480)3.20676830
85regulation of synaptic transmission, glutamatergic (GO:0051966)3.20576406
86membrane depolarization (GO:0051899)3.20172116
87dendritic spine organization (GO:0097061)3.20142831
88G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.19174624
89negative regulation of synaptic transmission, GABAergic (GO:0032229)3.18392082
90positive regulation of synaptic transmission, GABAergic (GO:0032230)3.18136786
91positive regulation of neurotransmitter secretion (GO:0001956)3.17503230
92cellular sodium ion homeostasis (GO:0006883)3.16258519
93neuronal ion channel clustering (GO:0045161)3.16122218
94auditory behavior (GO:0031223)3.15923001
95positive regulation of neurotransmitter transport (GO:0051590)3.15146860
96cerebellar Purkinje cell layer development (GO:0021680)3.13280110
97membrane hyperpolarization (GO:0060081)3.12879357
98vesicle transport along microtubule (GO:0047496)3.12752620
99prepulse inhibition (GO:0060134)3.12396608
100cell migration in hindbrain (GO:0021535)3.12359991
101cerebellar granule cell differentiation (GO:0021707)3.11098855
102G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.08965926
103response to auditory stimulus (GO:0010996)3.08841580
104neuromuscular process (GO:0050905)3.08480535
105positive regulation of dendritic spine development (GO:0060999)3.08093607
106regulation of synaptic transmission (GO:0050804)3.07028117
107negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.06200435
108regulation of clathrin-mediated endocytosis (GO:2000369)3.05812301
109positive regulation of dendrite development (GO:1900006)3.05518198
110potassium ion homeostasis (GO:0055075)3.04370630
111innervation (GO:0060384)3.03360888
112axonal fasciculation (GO:0007413)3.02478405
113regulation of voltage-gated calcium channel activity (GO:1901385)3.02005177
114positive regulation of synaptic transmission (GO:0050806)3.01683123
115signal release (GO:0023061)3.01666498
116regulation of exocytosis (GO:0017157)3.01412865
117regulation of dendritic spine development (GO:0060998)3.01219310
118learning (GO:0007612)2.99873543
119synaptic transmission (GO:0007268)2.97671763
120intraspecies interaction between organisms (GO:0051703)2.97272548

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.13948262
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.10995509
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.10721436
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.04343326
5DROSHA_22980978_ChIP-Seq_HELA_Human2.88271220
6RARB_27405468_Chip-Seq_BRAIN_Mouse2.86329903
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.85587283
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.85587283
9GBX2_23144817_ChIP-Seq_PC3_Human2.84605891
10* REST_21632747_ChIP-Seq_MESCs_Mouse2.81660996
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.70075312
12* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.61599197
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.59716620
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.57392111
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.51607156
16IKZF1_21737484_ChIP-ChIP_HCT116_Human2.47967311
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.45341840
18MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.40394847
19EZH2_27304074_Chip-Seq_ESCs_Mouse2.37310803
20EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.36786327
21* REST_18959480_ChIP-ChIP_MESCs_Mouse2.33930855
22SUZ12_27294783_Chip-Seq_ESCs_Mouse2.33703662
23EZH2_27294783_Chip-Seq_ESCs_Mouse2.32762535
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.23701378
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.21324144
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.02578075
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.91847721
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.80155591
29ERG_21242973_ChIP-ChIP_JURKAT_Human1.80034614
30AR_21572438_ChIP-Seq_LNCaP_Human1.69801528
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.52954411
32DNAJC2_21179169_ChIP-ChIP_NT2_Human1.49794464
33* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.47418357
34RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.44847641
35SMAD4_21799915_ChIP-Seq_A2780_Human1.44402575
36* KDM2B_26808549_Chip-Seq_K562_Human1.39382542
37RING1B_27294783_Chip-Seq_ESCs_Mouse1.39009013
38CTBP2_25329375_ChIP-Seq_LNCAP_Human1.37355974
39ZFP281_18757296_ChIP-ChIP_E14_Mouse1.34226785
40SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.31523441
41* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.30838044
42ZNF274_21170338_ChIP-Seq_K562_Hela1.28325963
43TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.28086723
44* LXR_22292898_ChIP-Seq_THP-1_Human1.27217152
45WT1_25993318_ChIP-Seq_PODOCYTE_Human1.26326262
46* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.25625487
47AR_19668381_ChIP-Seq_PC3_Human1.25087041
48CTBP1_25329375_ChIP-Seq_LNCAP_Human1.24203571
49SOX2_21211035_ChIP-Seq_LN229_Gbm1.23373136
50OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.23131444
51NR3C1_23031785_ChIP-Seq_PC12_Mouse1.21929442
52GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.21111586
53PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.19336754
54ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.19099418
55SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17269354
56SMAD_19615063_ChIP-ChIP_OVARY_Human1.15298175
57RING1B_27294783_Chip-Seq_NPCs_Mouse1.13304388
58ESR2_21235772_ChIP-Seq_MCF-7_Human1.13015971
59PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.12977362
60CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.11051102
61RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.10541470
62ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.10115330
63GATA1_26923725_Chip-Seq_HPCs_Mouse1.08213887
64STAT3_23295773_ChIP-Seq_U87_Human1.08052934
65AR_25329375_ChIP-Seq_VCAP_Human1.07554928
66ZFP281_27345836_Chip-Seq_ESCs_Mouse1.03842283
67SMAD3_21741376_ChIP-Seq_EPCs_Human1.03667052
68PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.03236961
69P53_22127205_ChIP-Seq_FIBROBLAST_Human1.02804988
70TAF15_26573619_Chip-Seq_HEK293_Human1.02349704
71ZNF217_24962896_ChIP-Seq_MCF-7_Human1.01203938
72RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.01138566
73* OCT4_19829295_ChIP-Seq_ESCs_Human1.00563799
74* SMC4_20622854_ChIP-Seq_HELA_Human1.00022671
75TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.98660285
76TET1_21490601_ChIP-Seq_MESCs_Mouse0.98620226
77RNF2_27304074_Chip-Seq_NSC_Mouse0.98005768
78* TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.97948847
79SRY_22984422_ChIP-ChIP_TESTIS_Rat0.96525923
80YAP1_20516196_ChIP-Seq_MESCs_Mouse0.96213768
81P300_19829295_ChIP-Seq_ESCs_Human0.95771524
82CDX2_19796622_ChIP-Seq_MESCs_Mouse0.95196720
83MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.94783557
84TCF4_23295773_ChIP-Seq_U87_Human0.93592449
85SMAD3_21741376_ChIP-Seq_ESCs_Human0.93285460
86KDM2B_26808549_Chip-Seq_SUP-B15_Human0.92954130
87DPY_21335234_ChIP-Seq_ESCs_Mouse0.92782722
88SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.92568047
89SMAD3_21741376_ChIP-Seq_HESCs_Human0.92559491
90RXR_22108803_ChIP-Seq_LS180_Human0.91820687
91SMAD4_21741376_ChIP-Seq_HESCs_Human0.91647093
92TP53_16413492_ChIP-PET_HCT116_Human0.91600514
93ARNT_22903824_ChIP-Seq_MCF-7_Human0.91363825
94CREB1_26743006_Chip-Seq_LNCaP_Human0.91142389
95SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.90887274
96PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.90492580
97* CTCF_27219007_Chip-Seq_Bcells_Human0.90394739
98TOP2B_26459242_ChIP-Seq_MCF-7_Human0.90364789
99OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.89153669
100PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.88464613
101AHR_22903824_ChIP-Seq_MCF-7_Human0.88087366
102TP53_20018659_ChIP-ChIP_R1E_Mouse0.87432972
103CBX2_27304074_Chip-Seq_ESCs_Mouse0.86557005
104VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.86350631
105SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86148355
106SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.86078277
107SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.85486663
108TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.84738285
109* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.84354694
110KDM2B_26808549_Chip-Seq_DND41_Human0.83821164
111* THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.83811060
112* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.83355843
113NR3C1_21868756_ChIP-Seq_MCF10A_Human0.83270024
114KLF4_19829295_ChIP-Seq_ESCs_Human0.82930012
115PIAS1_25552417_ChIP-Seq_VCAP_Human0.82785557
116SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.82531936
117ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.81761985
118ZFP57_27257070_Chip-Seq_ESCs_Mouse0.81755770
119* P68_20966046_ChIP-Seq_HELA_Human0.81482699
120RUNX1_26923725_Chip-Seq_HPCs_Mouse0.80775950
121CTNNB1_20460455_ChIP-Seq_HCT116_Human0.80218217
122SMAD4_21741376_ChIP-Seq_ESCs_Human0.80174691
123TP53_23651856_ChIP-Seq_MEFs_Mouse0.79019185
124PRDM14_20953172_ChIP-Seq_ESCs_Human0.78660482
125BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.78471539
126UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.77470886
127TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.76540598
128MYC_19915707_ChIP-ChIP_AK7_Human0.75844932
129TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.73835708
130EGR1_19032775_ChIP-ChIP_M12_Human0.72709892

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.42261087
2MP0003880_abnormal_central_pattern4.65031896
3* MP0003635_abnormal_synaptic_transmissio4.40007273
4MP0004270_analgesia3.84757783
5MP0009745_abnormal_behavioral_response3.51286865
6MP0009046_muscle_twitch3.42355157
7MP0002063_abnormal_learning/memory/cond3.41137409
8* MP0002064_seizures3.30314680
9MP0005423_abnormal_somatic_nervous3.02691152
10MP0001968_abnormal_touch/_nociception2.97904746
11MP0002572_abnormal_emotion/affect_behav2.77546914
12MP0002272_abnormal_nervous_system2.75592530
13MP0002734_abnormal_mechanical_nocicepti2.68851833
14MP0001486_abnormal_startle_reflex2.60864065
15MP0002822_catalepsy2.52323855
16MP0001501_abnormal_sleep_pattern2.36658002
17MP0008569_lethality_at_weaning2.32513392
18MP0002736_abnormal_nociception_after2.20681590
19MP0001440_abnormal_grooming_behavior2.09574683
20MP0002735_abnormal_chemical_nociception2.02488634
21MP0003329_amyloid_beta_deposits2.02331325
22MP0009780_abnormal_chondrocyte_physiolo2.01889378
23MP0002733_abnormal_thermal_nociception1.96941267
24MP0002067_abnormal_sensory_capabilities1.96277496
25MP0004858_abnormal_nervous_system1.95339393
26MP0001970_abnormal_pain_threshold1.94011281
27* MP0004811_abnormal_neuron_physiology1.82029305
28MP0002909_abnormal_adrenal_gland1.78780671
29MP0002184_abnormal_innervation1.75614895
30MP0002557_abnormal_social/conspecific_i1.68701154
31MP0004885_abnormal_endolymph1.66861405
32MP0005386_behavior/neurological_phenoty1.63063419
33MP0004924_abnormal_behavior1.63063419
34MP0000955_abnormal_spinal_cord1.59365338
35MP0003879_abnormal_hair_cell1.59165115
36MP0003123_paternal_imprinting1.57761273
37MP0000778_abnormal_nervous_system1.57035492
38MP0003633_abnormal_nervous_system1.50419515
39* MP0002066_abnormal_motor_capabilities/c1.45889283
40MP0005646_abnormal_pituitary_gland1.42658264
41* MP0002882_abnormal_neuron_morphology1.41607072
42MP0003787_abnormal_imprinting1.35924146
43MP0001984_abnormal_olfaction1.32882605
44MP0003631_nervous_system_phenotype1.26531208
45MP0004142_abnormal_muscle_tone1.25941996
46MP0001502_abnormal_circadian_rhythm1.22674763
47MP0004145_abnormal_muscle_electrophysio1.18812789
48MP0006276_abnormal_autonomic_nervous1.18413563
49MP0003075_altered_response_to1.15598091
50MP0005645_abnormal_hypothalamus_physiol1.11300974
51MP0008872_abnormal_physiological_respon1.10244025
52MP0002152_abnormal_brain_morphology1.09636281
53MP0003690_abnormal_glial_cell1.09610741
54MP0001348_abnormal_lacrimal_gland1.07970646
55MP0000751_myopathy1.07663722
56MP0003283_abnormal_digestive_organ1.06755729
57MP0000569_abnormal_digit_pigmentation1.04827052
58MP0002229_neurodegeneration1.03235568
59MP0008961_abnormal_basal_metabolism1.02911748
60MP0003122_maternal_imprinting1.02807850
61MP0000920_abnormal_myelination1.00231854
62MP0001177_atelectasis1.00188753
63MP0001905_abnormal_dopamine_level0.96440540
64MP0008874_decreased_physiological_sensi0.96137665
65MP0003632_abnormal_nervous_system0.95900053
66MP0005551_abnormal_eye_electrophysiolog0.95836530
67MP0000604_amyloidosis0.92917384
68MP0000013_abnormal_adipose_tissue0.91170029
69MP0001346_abnormal_lacrimal_gland0.90695105
70* MP0002069_abnormal_eating/drinking_beha0.89631045
71MP0005167_abnormal_blood-brain_barrier0.88058865
72MP0003634_abnormal_glial_cell0.87554668
73MP0004147_increased_porphyrin_level0.87063572
74MP0004742_abnormal_vestibular_system0.82275735
75MP0005535_abnormal_body_temperature0.81172718
76MP0005623_abnormal_meninges_morphology0.79135340
77MP0004510_myositis0.78075111
78MP0002090_abnormal_vision0.76917296
79MP0004085_abnormal_heartbeat0.76599657
80MP0002638_abnormal_pupillary_reflex0.75454607
81MP0005394_taste/olfaction_phenotype0.72536924
82MP0005499_abnormal_olfactory_system0.72536924
83MP0001529_abnormal_vocalization0.72050987
84MP0010234_abnormal_vibrissa_follicle0.71893556
85MP0004233_abnormal_muscle_weight0.71355440
86MP0010386_abnormal_urinary_bladder0.71160375
87MP0003172_abnormal_lysosome_physiology0.70536184
88MP0004215_abnormal_myocardial_fiber0.69216855
89MP0004484_altered_response_of0.68562418
90MP0000579_abnormal_nail_morphology0.67900516
91MP0002752_abnormal_somatic_nervous0.67191668
92MP0008877_abnormal_DNA_methylation0.65165899
93MP0001986_abnormal_taste_sensitivity0.64793861
94MP0003137_abnormal_impulse_conducting0.64663348
95* MP0001963_abnormal_hearing_physiology0.64564695
96MP0001299_abnormal_eye_distance/0.63059585
97MP0005409_darkened_coat_color0.61178913
98MP0004130_abnormal_muscle_cell0.61010801
99MP0001485_abnormal_pinna_reflex0.60207055
100MP0004043_abnormal_pH_regulation0.59795372
101MP0003121_genomic_imprinting0.58412780
102MP0002249_abnormal_larynx_morphology0.57655867
103MP0002089_abnormal_postnatal_growth/wei0.56640118
104* MP0010769_abnormal_survival0.54029034
105MP0000566_synostosis0.53401958
106* MP0010770_preweaning_lethality0.53290166
107* MP0002082_postnatal_lethality0.53290166
108MP0001943_abnormal_respiration0.52651380
109MP0001664_abnormal_digestion0.52634921
110MP0000747_muscle_weakness0.52624489
111MP0001188_hyperpigmentation0.52517098
112MP0003956_abnormal_body_size0.50746275
113MP0000631_abnormal_neuroendocrine_gland0.50556500
114* MP0010768_mortality/aging0.50253202
115MP0003861_abnormal_nervous_system0.49853095
116MP0000026_abnormal_inner_ear0.48902077
117MP0003938_abnormal_ear_development0.48694814
118MP0002873_normal_phenotype0.43994954

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.43039153
2Myokymia (HP:0002411)7.41570397
3Focal seizures (HP:0007359)5.87834259
4Visual hallucinations (HP:0002367)5.78895827
5Action tremor (HP:0002345)4.87893263
6Progressive cerebellar ataxia (HP:0002073)4.85158454
7Atonic seizures (HP:0010819)4.58417010
8Epileptic encephalopathy (HP:0200134)4.57015474
9Febrile seizures (HP:0002373)4.35469523
10Absence seizures (HP:0002121)4.09911854
11Supranuclear gaze palsy (HP:0000605)3.92144654
12Generalized tonic-clonic seizures (HP:0002069)3.89863672
13Ankle clonus (HP:0011448)3.69695396
14Dialeptic seizures (HP:0011146)3.67635660
15Gaze-evoked nystagmus (HP:0000640)3.67533098
16Cerebral hypomyelination (HP:0006808)3.56730269
17Dysdiadochokinesis (HP:0002075)3.55552289
18Depression (HP:0000716)3.54823388
19Poor eye contact (HP:0000817)3.52380799
20Impaired vibration sensation in the lower limbs (HP:0002166)3.50925008
21Dysmetria (HP:0001310)3.43873097
22Broad-based gait (HP:0002136)3.42911828
23Postural instability (HP:0002172)3.40648762
24Abnormality of the lower motor neuron (HP:0002366)3.32774252
25Mutism (HP:0002300)3.25498303
26Impaired social interactions (HP:0000735)3.22633434
27Abnormal social behavior (HP:0012433)3.22633434
28Urinary bladder sphincter dysfunction (HP:0002839)3.20247431
29Papilledema (HP:0001085)3.18915030
30Hemiplegia (HP:0002301)3.18492747
31Genetic anticipation (HP:0003743)3.12310825
32Impaired smooth pursuit (HP:0007772)3.10634072
33Anxiety (HP:0000739)3.10270274
34Truncal ataxia (HP:0002078)3.08520492
35Intention tremor (HP:0002080)3.08508015
36Ventricular fibrillation (HP:0001663)3.04523873
37Abnormal eating behavior (HP:0100738)2.99924131
38Scanning speech (HP:0002168)2.85939317
39Akinesia (HP:0002304)2.84428091
40Torticollis (HP:0000473)2.83055894
41Annular pancreas (HP:0001734)2.79414580
42Dysmetric saccades (HP:0000641)2.79316958
43Urinary urgency (HP:0000012)2.78774126
44Abnormality of ocular smooth pursuit (HP:0000617)2.76045330
45Sleep apnea (HP:0010535)2.71402252
46Spastic gait (HP:0002064)2.69545120
47Amblyopia (HP:0000646)2.69293274
48Focal dystonia (HP:0004373)2.67540570
49Hemiparesis (HP:0001269)2.66963293
50Diplopia (HP:0000651)2.61924869
51Abnormality of binocular vision (HP:0011514)2.61924869
52Bradykinesia (HP:0002067)2.57806077
53Status epilepticus (HP:0002133)2.55129851
54Neurofibrillary tangles (HP:0002185)2.51805987
55Stereotypic behavior (HP:0000733)2.50571337
56Bundle branch block (HP:0011710)2.49795157
57Insomnia (HP:0100785)2.47039188
58Megalencephaly (HP:0001355)2.42151822
59Pointed chin (HP:0000307)2.40916908
60Cerebral inclusion bodies (HP:0100314)2.40509391
61Spastic tetraparesis (HP:0001285)2.40095010
62Progressive inability to walk (HP:0002505)2.39196619
63Impaired vibratory sensation (HP:0002495)2.36181860
64Hyperventilation (HP:0002883)2.34286111
65Drooling (HP:0002307)2.32272570
66Excessive salivation (HP:0003781)2.32272570
67Craniofacial dystonia (HP:0012179)2.31089105
68Peripheral hypomyelination (HP:0007182)2.27488434
69Choreoathetosis (HP:0001266)2.25897713
70CNS hypomyelination (HP:0003429)2.21088697
71Lower limb muscle weakness (HP:0007340)2.16727807
72Diminished motivation (HP:0000745)2.16587465
73Termporal pattern (HP:0011008)2.14734075
74Insidious onset (HP:0003587)2.14734075
75Abnormality of saccadic eye movements (HP:0000570)2.13608425
76Tetraplegia (HP:0002445)2.12566085
77Epileptiform EEG discharges (HP:0011182)2.11589190
78Generalized myoclonic seizures (HP:0002123)2.10048670
79Abnormality of the corticospinal tract (HP:0002492)2.09439093
80Clonus (HP:0002169)2.08268536
81EEG with generalized epileptiform discharges (HP:0011198)2.07174575
82Fetal akinesia sequence (HP:0001989)2.06313504
83Gait ataxia (HP:0002066)2.06290983
84Agitation (HP:0000713)2.05922532
85Absent speech (HP:0001344)2.04847515
86Lower limb asymmetry (HP:0100559)2.02918222
87Aplasia involving bones of the extremities (HP:0009825)2.01747546
88Aplasia involving bones of the upper limbs (HP:0009823)2.01747546
89Aplasia of the phalanges of the hand (HP:0009802)2.01747546
90Morphological abnormality of the pyramidal tract (HP:0002062)2.01730987
91Neuronal loss in central nervous system (HP:0002529)1.99942630
92Hypsarrhythmia (HP:0002521)1.99893196
93Bronchomalacia (HP:0002780)1.99128017
94Incomplete penetrance (HP:0003829)1.98877332
95Polyphagia (HP:0002591)1.95731714
96Obstructive sleep apnea (HP:0002870)1.95572901
97Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.94751559
98Degeneration of the lateral corticospinal tracts (HP:0002314)1.94751559
99Pheochromocytoma (HP:0002666)1.94244205
100Distal upper limb amyotrophy (HP:0007149)1.93696529
101Upper limb amyotrophy (HP:0009129)1.93696529
102Rapidly progressive (HP:0003678)1.89773394
103Hand muscle atrophy (HP:0009130)1.89657389
104Rigidity (HP:0002063)1.89134392
105Turricephaly (HP:0000262)1.87746947
106Amyotrophic lateral sclerosis (HP:0007354)1.86672300
107Abnormal EKG (HP:0003115)1.83108581
108Psychosis (HP:0000709)1.80689014
109Postural tremor (HP:0002174)1.80261205
110Delusions (HP:0000746)1.78963338
111Spinal canal stenosis (HP:0003416)1.77947078
112Abnormality of the periventricular white matter (HP:0002518)1.75805162
113Ankyloglossia (HP:0010296)1.75729214
114Lower limb amyotrophy (HP:0007210)1.74746766
115Apathy (HP:0000741)1.73923386
116Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.72489546
117Resting tremor (HP:0002322)1.69528201
118Limb ataxia (HP:0002070)1.69034044
119Limb dystonia (HP:0002451)1.68647471
120Inability to walk (HP:0002540)1.68576076

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.39512897
2MAP3K94.19856993
3EPHA44.05706984
4MAP3K42.86790277
5DAPK22.78795534
6MINK12.78626201
7PAK62.73167796
8PRKD32.60498874
9MARK12.38795871
10KSR22.38794181
11CAMKK12.32822762
12MAP2K72.20315782
13NTRK11.98292185
14NTRK21.98257165
15MAP2K41.91490802
16RIPK41.88961068
17STK381.87239041
18MAP3K121.65695748
19CDK191.59208440
20KSR11.52326775
21* CDK51.51599691
22DAPK11.49308441
23ARAF1.39844038
24GRK51.39319830
25TYRO31.37983491
26PRPF4B1.36877125
27CAMKK21.36655778
28MAP3K131.35133658
29SIK21.27683486
30PRKCG1.25316359
31MAP3K21.25208428
32UHMK11.24850024
33PLK21.24766797
34TNIK1.22462130
35TAOK11.22189358
36FES1.19701813
37CAMK11.17084544
38PNCK1.15866406
39RIPK11.12307828
40ALK1.10032534
41PRKCH1.08257820
42LATS21.07389111
43PINK11.04797608
44STK111.04331970
45LMTK20.96827425
46MAPK130.95230126
47RET0.92305722
48SGK4940.89206542
49SGK2230.89206542
50PHKG10.85867754
51PHKG20.85867754
52RAF10.85535976
53CAMK2A0.85433977
54PDK10.83241080
55PAK30.80384641
56MAPK120.79322690
57WNK10.79060722
58PTK2B0.75899364
59SGK30.75833674
60OXSR10.75529139
61PDPK10.73979662
62* CDK180.72599711
63* CDK150.72539645
64TNK20.72137407
65FGFR20.71315637
66MAP3K10.69415059
67* CDK140.68993540
68PKN10.68566237
69CAMK2B0.67914480
70SGK20.67259693
71LIMK10.67055679
72SGK10.65165489
73MAP3K110.64318568
74NEK10.63720014
75CAMK1G0.63595706
76MARK20.63544201
77MAP3K70.62310932
78* CDK11A0.61853037
79CDC42BPA0.61216475
80CAMK40.60526347
81BRAF0.59587148
82BRSK10.58747911
83CASK0.56793485
84NEK60.55799376
85RPS6KA30.54112141
86BMPR20.53514076
87SCYL20.52881325
88CAMK2G0.49908793
89MAPK100.49032988
90PRKCZ0.47693166
91DAPK30.47463949
92FYN0.46878851
93CSNK1G20.45584082
94DDR20.45064638
95DMPK0.44587933
96CAMK2D0.42633656
97FER0.40663259
98MAP2K60.39572855
99ROCK20.37841398
100PRKG20.37659570
101MAP2K10.37240386
102ERBB20.36363857
103MAPKAPK50.35233680
104* DYRK1A0.34912493
105ROCK10.33715597
106BMX0.33499954
107TESK10.33437047
108PRKCE0.33419889
109CAMK1D0.32423948
110PDGFRA0.31795351
111PRKCB0.31290334
112* PRKCA0.30661754
113IRAK20.30464319
114* MAPK80.27390439
115ICK0.25743483
116PRKD20.25578144
117RPS6KA20.23408339

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.51134586
2* Synaptic vesicle cycle_Homo sapiens_hsa047213.20426793
3Olfactory transduction_Homo sapiens_hsa047402.75578991
4Long-term potentiation_Homo sapiens_hsa047202.72605962
5Circadian entrainment_Homo sapiens_hsa047132.68868562
6GABAergic synapse_Homo sapiens_hsa047272.65163924
7Glutamatergic synapse_Homo sapiens_hsa047242.62887917
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.55157461
9Amphetamine addiction_Homo sapiens_hsa050312.37727433
10Morphine addiction_Homo sapiens_hsa050322.36403317
11Salivary secretion_Homo sapiens_hsa049702.27164628
12* Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.22493979
13Gastric acid secretion_Homo sapiens_hsa049712.06609614
14Insulin secretion_Homo sapiens_hsa049112.05272294
15Dopaminergic synapse_Homo sapiens_hsa047282.05222235
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.95238919
17Cholinergic synapse_Homo sapiens_hsa047251.88362627
18Nitrogen metabolism_Homo sapiens_hsa009101.77346591
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.75590506
20Long-term depression_Homo sapiens_hsa047301.73041696
21Oxytocin signaling pathway_Homo sapiens_hsa049211.67537282
22Vitamin B6 metabolism_Homo sapiens_hsa007501.65567262
23Taste transduction_Homo sapiens_hsa047421.62289528
24Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.57259262
25Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.55499156
26Calcium signaling pathway_Homo sapiens_hsa040201.54854265
27Renin secretion_Homo sapiens_hsa049241.54842300
28GnRH signaling pathway_Homo sapiens_hsa049121.52881369
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.48138734
30Cocaine addiction_Homo sapiens_hsa050301.43574558
31Serotonergic synapse_Homo sapiens_hsa047261.40822666
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.34177987
33Gap junction_Homo sapiens_hsa045401.31400701
34Type II diabetes mellitus_Homo sapiens_hsa049301.29749977
35cAMP signaling pathway_Homo sapiens_hsa040241.29261662
36Phosphatidylinositol signaling system_Homo sapiens_hsa040701.27413361
37Glioma_Homo sapiens_hsa052141.21185069
38Estrogen signaling pathway_Homo sapiens_hsa049151.19794000
39Collecting duct acid secretion_Homo sapiens_hsa049661.06868460
40cGMP-PKG signaling pathway_Homo sapiens_hsa040221.04863271
41Melanogenesis_Homo sapiens_hsa049161.03699642
42ErbB signaling pathway_Homo sapiens_hsa040121.02606653
43Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.00395469
44Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.98818859
45Pancreatic secretion_Homo sapiens_hsa049720.95450807
46Axon guidance_Homo sapiens_hsa043600.92974271
47Oocyte meiosis_Homo sapiens_hsa041140.92437785
48Thyroid hormone synthesis_Homo sapiens_hsa049180.91046494
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.90552809
50Dorso-ventral axis formation_Homo sapiens_hsa043200.88714688
51Cardiac muscle contraction_Homo sapiens_hsa042600.87638046
52Phototransduction_Homo sapiens_hsa047440.85379255
53* Phospholipase D signaling pathway_Homo sapiens_hsa040720.84914353
54Carbohydrate digestion and absorption_Homo sapiens_hsa049730.81832200
55Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.75781492
56Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.74987959
57Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.74432193
58Choline metabolism in cancer_Homo sapiens_hsa052310.74415087
59Dilated cardiomyopathy_Homo sapiens_hsa054140.74135657
60VEGF signaling pathway_Homo sapiens_hsa043700.71106893
61Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.70141109
62Neurotrophin signaling pathway_Homo sapiens_hsa047220.70108369
63MAPK signaling pathway_Homo sapiens_hsa040100.70062624
64Bile secretion_Homo sapiens_hsa049760.68851081
65Vibrio cholerae infection_Homo sapiens_hsa051100.67255877
66Thyroid hormone signaling pathway_Homo sapiens_hsa049190.62356173
67mTOR signaling pathway_Homo sapiens_hsa041500.61735764
68Inositol phosphate metabolism_Homo sapiens_hsa005620.59612634
69Glucagon signaling pathway_Homo sapiens_hsa049220.59272951
70Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.58458607
71Sphingolipid signaling pathway_Homo sapiens_hsa040710.55944823
72Rap1 signaling pathway_Homo sapiens_hsa040150.55588490
73* Endocytosis_Homo sapiens_hsa041440.55431870
74Ras signaling pathway_Homo sapiens_hsa040140.52551969
75Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.51204493
76Non-small cell lung cancer_Homo sapiens_hsa052230.48273849
77Longevity regulating pathway - mammal_Homo sapiens_hsa042110.45457737
78Type I diabetes mellitus_Homo sapiens_hsa049400.45384722
79Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.45266668
80Arginine and proline metabolism_Homo sapiens_hsa003300.42912871
81Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.41714892
82Endometrial cancer_Homo sapiens_hsa052130.41491095
83Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.41301998
84Prion diseases_Homo sapiens_hsa050200.41262247
85Circadian rhythm_Homo sapiens_hsa047100.40932018
86Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.40521862
87Insulin signaling pathway_Homo sapiens_hsa049100.40248138
88Alcoholism_Homo sapiens_hsa050340.39060163
89Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.38110979
90Wnt signaling pathway_Homo sapiens_hsa043100.37593050
91Renal cell carcinoma_Homo sapiens_hsa052110.37357411
92Chemokine signaling pathway_Homo sapiens_hsa040620.37127305
93Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.37069378
94Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.36299201
95Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.35024487
96African trypanosomiasis_Homo sapiens_hsa051430.33779737
97Arginine biosynthesis_Homo sapiens_hsa002200.33045154
98Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.31410183
99SNARE interactions in vesicular transport_Homo sapiens_hsa041300.31293371
100Ovarian steroidogenesis_Homo sapiens_hsa049130.31227179
101AMPK signaling pathway_Homo sapiens_hsa041520.30861156
102Mineral absorption_Homo sapiens_hsa049780.29578811
103Fatty acid biosynthesis_Homo sapiens_hsa000610.29332241
104Tight junction_Homo sapiens_hsa045300.29132499
105Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.29120192
106Platelet activation_Homo sapiens_hsa046110.26874013
107Hippo signaling pathway_Homo sapiens_hsa043900.25850889
108Histidine metabolism_Homo sapiens_hsa003400.22811412
109HIF-1 signaling pathway_Homo sapiens_hsa040660.21411069
110Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.20391436
111Alzheimers disease_Homo sapiens_hsa050100.19341539
112Protein digestion and absorption_Homo sapiens_hsa049740.17478563

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