RUSC2

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 RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)5.08095173
2regulation of short-term neuronal synaptic plasticity (GO:0048172)4.83895910
3locomotory exploration behavior (GO:0035641)4.60823153
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.45853931
5layer formation in cerebral cortex (GO:0021819)4.33775895
6vocalization behavior (GO:0071625)4.31357911
7glutamate secretion (GO:0014047)4.19092376
8regulation of synapse structural plasticity (GO:0051823)4.11956392
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.10864982
10positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.07898752
11synaptic vesicle exocytosis (GO:0016079)4.05262499
12regulation of synaptic vesicle exocytosis (GO:2000300)3.87605580
13synaptic vesicle docking involved in exocytosis (GO:0016081)3.80082179
14pyrimidine nucleobase catabolic process (GO:0006208)3.78916186
15regulation of glutamate receptor signaling pathway (GO:1900449)3.76476909
16protein localization to synapse (GO:0035418)3.70863864
17dendritic spine morphogenesis (GO:0060997)3.68041540
18exploration behavior (GO:0035640)3.60530742
19dendrite morphogenesis (GO:0048813)3.55947562
20neuron cell-cell adhesion (GO:0007158)3.49353890
21negative regulation of synaptic transmission, GABAergic (GO:0032229)3.48828187
22cell migration in hindbrain (GO:0021535)3.47028902
23regulation of synaptic vesicle transport (GO:1902803)3.46016624
24proline transport (GO:0015824)3.42342580
25neurotransmitter secretion (GO:0007269)3.41730208
26sodium ion export (GO:0071436)3.41528752
27regulation of neuronal synaptic plasticity (GO:0048168)3.41262548
28neuron recognition (GO:0008038)3.40699366
29cell communication by electrical coupling (GO:0010644)3.39843877
30axonal fasciculation (GO:0007413)3.38891373
31ionotropic glutamate receptor signaling pathway (GO:0035235)3.33562258
32gamma-aminobutyric acid transport (GO:0015812)3.33222095
33amino acid import (GO:0043090)3.27915559
34nucleobase catabolic process (GO:0046113)3.26764064
35regulation of long-term neuronal synaptic plasticity (GO:0048169)3.26745124
36cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.23977822
37cellular potassium ion homeostasis (GO:0030007)3.21655514
38activation of protein kinase A activity (GO:0034199)3.18801069
39membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.14620818
40regulation of synapse maturation (GO:0090128)3.11593648
41neuromuscular process controlling balance (GO:0050885)3.11328505
42positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.08664401
43neuronal action potential propagation (GO:0019227)3.04243553
44cerebellar Purkinje cell layer development (GO:0021680)3.04028589
45neurotransmitter-gated ion channel clustering (GO:0072578)2.99697783
46positive regulation of synapse maturation (GO:0090129)2.95773428
47response to pheromone (GO:0019236)2.95472200
48establishment of nucleus localization (GO:0040023)2.94953330
49positive regulation of axon extension (GO:0045773)2.92945327
50auditory behavior (GO:0031223)2.91855854
51cerebellar Purkinje cell differentiation (GO:0021702)2.89621864
52cytoskeletal anchoring at plasma membrane (GO:0007016)2.88591281
53synaptic transmission, glutamatergic (GO:0035249)2.88307386
54glutamate receptor signaling pathway (GO:0007215)2.88064454
55G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.85854978
56synaptic vesicle endocytosis (GO:0048488)2.82321454
57plasma membrane repair (GO:0001778)2.81971702
58glycine transport (GO:0015816)2.81466709
59regulation of dendritic spine morphogenesis (GO:0061001)2.81147628
60axon extension (GO:0048675)2.80094704
61regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.80069369
62response to auditory stimulus (GO:0010996)2.79888512
63regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.77357937
64L-amino acid import (GO:0043092)2.76570158
65regulation of excitatory postsynaptic membrane potential (GO:0060079)2.75915036
66regulation of ARF protein signal transduction (GO:0032012)2.75063461
67positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.74680208
68cell communication involved in cardiac conduction (GO:0086065)2.71835702
69central nervous system projection neuron axonogenesis (GO:0021952)2.71423158
70long-term memory (GO:0007616)2.71200747
71regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.69694568
72positive regulation of synapse assembly (GO:0051965)2.69412789
73alanine transport (GO:0032328)2.68860431
74negative regulation of microtubule polymerization (GO:0031115)2.68815008
75clathrin coat assembly (GO:0048268)2.67974061
76membrane depolarization during action potential (GO:0086010)2.66189159
77regulation of postsynaptic membrane potential (GO:0060078)2.65617265
78neurotransmitter transport (GO:0006836)2.65480731
79neuron-neuron synaptic transmission (GO:0007270)2.62196921
80positive regulation of neurotransmitter secretion (GO:0001956)2.61287327
81organelle transport along microtubule (GO:0072384)2.58793199
82positive regulation of neurotransmitter transport (GO:0051590)2.57958908
83positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.57823911
84neuron projection extension (GO:1990138)2.57010408
85positive regulation of fibroblast migration (GO:0010763)2.56821017
86regulation of synaptic plasticity (GO:0048167)2.56303840
87postsynaptic membrane organization (GO:0001941)2.55298445
88neuronal ion channel clustering (GO:0045161)2.55086482
89protein heterotrimerization (GO:0070208)2.53762316
90positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.53541036
91positive regulation of membrane potential (GO:0045838)2.52322193
92neuromuscular process controlling posture (GO:0050884)2.52075477
93potassium ion import (GO:0010107)2.51924150
94cerebellar granule cell differentiation (GO:0021707)2.51378087
95regulation of neurotransmitter secretion (GO:0046928)2.50699340
96axon cargo transport (GO:0008088)2.50565717
97positive regulation of dendritic spine development (GO:0060999)2.49399315
98regulation of voltage-gated calcium channel activity (GO:1901385)2.49155396
99regulation of neurotransmitter levels (GO:0001505)2.48389856
100neuromuscular synaptic transmission (GO:0007274)2.47741624
101vesicle transport along microtubule (GO:0047496)2.47560993
102regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.46546778
103regulation of dendritic spine development (GO:0060998)2.46497947
104membrane depolarization (GO:0051899)2.46007019
105establishment of mitochondrion localization (GO:0051654)2.45391979
106neuromuscular process (GO:0050905)2.44988864
107nerve growth factor signaling pathway (GO:0038180)2.44946747
108synapse organization (GO:0050808)2.44793485
109regulation of vesicle fusion (GO:0031338)2.44737461
110regulation of axon extension involved in axon guidance (GO:0048841)2.44324356
111positive regulation of dendrite development (GO:1900006)2.44031965
112regulation of synapse assembly (GO:0051963)2.43798396
113dendritic spine organization (GO:0097061)2.43465265
114establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.41926999
115potassium ion homeostasis (GO:0055075)2.41398324
116regulation of neurotransmitter transport (GO:0051588)2.40969324
117acidic amino acid transport (GO:0015800)2.39746051
118negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.33624423
119regulation of synapse organization (GO:0050807)2.33472387
120gamma-aminobutyric acid signaling pathway (GO:0007214)2.31928642
121protein localization to endosome (GO:0036010)2.31925169
122regulation of synaptic transmission (GO:0050804)2.30685762
123protein targeting to plasma membrane (GO:0072661)2.29897185
124positive regulation of dendritic spine morphogenesis (GO:0061003)2.28061934

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.81289193
2SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.65791324
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.64287823
4RNF2_18974828_ChIP-Seq_MESCs_Mouse2.49803723
5EZH2_18974828_ChIP-Seq_MESCs_Mouse2.49803723
6GBX2_23144817_ChIP-Seq_PC3_Human2.47402942
7JARID2_20064375_ChIP-Seq_MESCs_Mouse2.45018403
8DROSHA_22980978_ChIP-Seq_HELA_Human2.44835762
9* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.31810081
10* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.31039965
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.29132185
12SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.22097507
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.21849290
14SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.20235970
15EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.18851709
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.13963307
17EZH2_27294783_Chip-Seq_ESCs_Mouse2.12651787
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.11301490
19RARB_27405468_Chip-Seq_BRAIN_Mouse2.10259047
20REST_21632747_ChIP-Seq_MESCs_Mouse2.07887914
21PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.04225659
22MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.97743345
23RNF2_27304074_Chip-Seq_ESCs_Mouse1.96800694
24EED_16625203_ChIP-ChIP_MESCs_Mouse1.93569062
25NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.86461214
26REST_18959480_ChIP-ChIP_MESCs_Mouse1.76740504
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.73739273
28TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.71443593
29ERG_21242973_ChIP-ChIP_JURKAT_Human1.63596688
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.62023057
31IKZF1_21737484_ChIP-ChIP_HCT116_Human1.54856434
32KDM2B_26808549_Chip-Seq_K562_Human1.54577672
33WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.48785269
34ZFP281_18757296_ChIP-ChIP_E14_Mouse1.45671362
35ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.44940646
36AR_21572438_ChIP-Seq_LNCaP_Human1.44671076
37TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.42504402
38CDX2_19796622_ChIP-Seq_MESCs_Mouse1.35011988
39TRIM28_21343339_ChIP-Seq_HEK293_Human1.34458952
40DNAJC2_21179169_ChIP-ChIP_NT2_Human1.32582950
41WT1_25993318_ChIP-Seq_PODOCYTE_Human1.31552379
42RING1B_27294783_Chip-Seq_ESCs_Mouse1.31371056
43* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.28828758
44* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.28755623
45THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.25949234
46ZNF274_21170338_ChIP-Seq_K562_Hela1.25436627
47ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.23253596
48* SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.21742753
49KDM2B_26808549_Chip-Seq_SUP-B15_Human1.20946891
50RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.20692224
51PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.18995592
52NR3C1_23031785_ChIP-Seq_PC12_Mouse1.18799648
53EP300_21415370_ChIP-Seq_HL-1_Mouse1.18630304
54* ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.18438864
55PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.17878681
56UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.17653586
57TP53_23651856_ChIP-Seq_MEFs_Mouse1.16576470
58ZNF217_24962896_ChIP-Seq_MCF-7_Human1.16213268
59EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.14167895
60SOX2_21211035_ChIP-Seq_LN229_Gbm1.12699261
61AHR_22903824_ChIP-Seq_MCF-7_Human1.12602821
62RING1B_27294783_Chip-Seq_NPCs_Mouse1.12560533
63SMAD4_21799915_ChIP-Seq_A2780_Human1.12268712
64CTBP2_25329375_ChIP-Seq_LNCAP_Human1.11634883
65CLOCK_20551151_ChIP-Seq_293T_Human1.10823778
66* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.10039495
67* AR_19668381_ChIP-Seq_PC3_Human1.09146657
68VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.07335785
69* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.06583067
70RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.06446998
71* ESR2_21235772_ChIP-Seq_MCF-7_Human1.05649255
72ELK3_25401928_ChIP-Seq_HUVEC_Human1.05430772
73SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.05308355
74SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.05127891
75P300_27058665_Chip-Seq_ZR-75-30cells_Human1.05075685
76ARNT_22903824_ChIP-Seq_MCF-7_Human1.03660040
77ZFP281_27345836_Chip-Seq_ESCs_Mouse1.03278890
78* NFIB_24661679_ChIP-Seq_LUNG_Mouse1.03164543
79TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.02511200
80* TET1_21490601_ChIP-Seq_MESCs_Mouse1.01862222
81LXR_22292898_ChIP-Seq_THP-1_Human1.01171421
82* SMAD4_21741376_ChIP-Seq_HESCs_Human1.00347720
83GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00270946
84OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.99981482
85WT1_19549856_ChIP-ChIP_CCG9911_Human0.98194508
86CTCF_27219007_Chip-Seq_Bcells_Human0.97419012
87* ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.96314932
88NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.95278946
89TP53_20018659_ChIP-ChIP_R1E_Mouse0.95245668
90RARG_19884340_ChIP-ChIP_MEFs_Mouse0.93212382
91SMC4_20622854_ChIP-Seq_HELA_Human0.93179514
92TP53_22127205_ChIP-Seq_IMR90_Human0.92749971
93* RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.92525852
94CTNNB1_20460455_ChIP-Seq_HCT116_Human0.92413742
95PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.91906440
96CTBP1_25329375_ChIP-Seq_LNCAP_Human0.91728247
97SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.91391819
98SMAD3_21741376_ChIP-Seq_EPCs_Human0.89673991
99AR_25329375_ChIP-Seq_VCAP_Human0.89298528
100SMAD3_21741376_ChIP-Seq_HESCs_Human0.89134220
101SMC1_22415368_ChIP-Seq_MEFs_Mouse0.88890911
102TBX20_22328084_ChIP-Seq_HEART_Mouse0.88582576
103TBX20_22080862_ChIP-Seq_HEART_Mouse0.88582576
104P53_22127205_ChIP-Seq_FIBROBLAST_Human0.88217704
105SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.87228422
106SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86869426
107SMAD_19615063_ChIP-ChIP_OVARY_Human0.86831097
108ESR1_21235772_ChIP-Seq_MCF-7_Human0.86420934
109YAP1_20516196_ChIP-Seq_MESCs_Mouse0.86416506
110DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.84895001
111BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.84753947
112STAT3_23295773_ChIP-Seq_U87_Human0.84594688
113ESR1_20079471_ChIP-ChIP_T-47D_Human0.84380547
114SRY_22984422_ChIP-ChIP_TESTIS_Rat0.84218930
115ISL1_27105846_Chip-Seq_CPCs_Mouse0.83825864
116GATA2_21666600_ChIP-Seq_HMVEC_Human0.83802984
117TP53_16413492_ChIP-PET_HCT116_Human0.83670535
118CBX2_27304074_Chip-Seq_ESCs_Mouse0.83179143
119TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.82609528
120CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.82428448
121SMAD3_21741376_ChIP-Seq_ESCs_Human0.82378444
122MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.81700278
123KDM2B_26808549_Chip-Seq_DND41_Human0.81413729
124KDM2B_26808549_Chip-Seq_JURKAT_Human0.80980140
125CREB1_26743006_Chip-Seq_LNCaP_Human0.80759801
126TOP2B_26459242_ChIP-Seq_MCF-7_Human0.80309431
127PIAS1_25552417_ChIP-Seq_VCAP_Human0.79691232
128RXR_22108803_ChIP-Seq_LS180_Human0.79607107

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.13188812
2MP0003635_abnormal_synaptic_transmissio3.55138686
3MP0004270_analgesia3.47141714
4MP0003880_abnormal_central_pattern3.45498446
5MP0002063_abnormal_learning/memory/cond2.88040745
6MP0005423_abnormal_somatic_nervous2.71174603
7MP0009745_abnormal_behavioral_response2.58160953
8MP0002064_seizures2.56543194
9MP0009046_muscle_twitch2.50453179
10MP0001968_abnormal_touch/_nociception2.49435870
11MP0004858_abnormal_nervous_system2.43654455
12MP0003329_amyloid_beta_deposits2.36903545
13MP0002734_abnormal_mechanical_nocicepti2.29772760
14MP0002572_abnormal_emotion/affect_behav2.20664727
15MP0003279_aneurysm2.15427001
16MP0000751_myopathy2.14767520
17MP0000778_abnormal_nervous_system2.05422964
18MP0001486_abnormal_startle_reflex2.01508934
19MP0009780_abnormal_chondrocyte_physiolo2.00780938
20MP0002733_abnormal_thermal_nociception1.99434753
21MP0002735_abnormal_chemical_nociception1.95774169
22MP0001440_abnormal_grooming_behavior1.93063552
23MP0002272_abnormal_nervous_system1.90302560
24MP0000569_abnormal_digit_pigmentation1.84933190
25MP0004811_abnormal_neuron_physiology1.79530880
26MP0002736_abnormal_nociception_after1.78550852
27MP0005623_abnormal_meninges_morphology1.76077874
28MP0001970_abnormal_pain_threshold1.73740113
29MP0006276_abnormal_autonomic_nervous1.71678619
30MP0002184_abnormal_innervation1.69501069
31MP0001501_abnormal_sleep_pattern1.68001266
32MP0002837_dystrophic_cardiac_calcinosis1.62110414
33MP0002909_abnormal_adrenal_gland1.60197462
34MP0005275_abnormal_skin_tensile1.59023836
35MP0000955_abnormal_spinal_cord1.58638780
36MP0008569_lethality_at_weaning1.54128271
37MP0002067_abnormal_sensory_capabilities1.53659884
38MP0005503_abnormal_tendon_morphology1.51146488
39MP0004885_abnormal_endolymph1.47577559
40MP0005386_behavior/neurological_phenoty1.41090644
41MP0004924_abnormal_behavior1.41090644
42MP0004272_abnormal_basement_membrane1.41043792
43MP0002557_abnormal_social/conspecific_i1.39970318
44MP0000604_amyloidosis1.35660583
45MP0005409_darkened_coat_color1.34153513
46MP0008961_abnormal_basal_metabolism1.31919011
47MP0004130_abnormal_muscle_cell1.31778622
48MP0002882_abnormal_neuron_morphology1.31530358
49MP0002822_catalepsy1.31257297
50MP0003633_abnormal_nervous_system1.27052386
51MP0002066_abnormal_motor_capabilities/c1.26493569
52MP0005257_abnormal_intraocular_pressure1.25377086
53MP0004145_abnormal_muscle_electrophysio1.24028701
54MP0003137_abnormal_impulse_conducting1.22628315
55MP0000013_abnormal_adipose_tissue1.18776276
56MP0003283_abnormal_digestive_organ1.18300680
57MP0003566_abnormal_cell_adhesion1.18159846
58MP0003634_abnormal_glial_cell1.17448138
59MP0003879_abnormal_hair_cell1.17226310
60MP0000750_abnormal_muscle_regeneration1.14335779
61MP0003690_abnormal_glial_cell1.14209447
62MP0010368_abnormal_lymphatic_system1.12351549
63MP0004085_abnormal_heartbeat1.10934725
64MP0001502_abnormal_circadian_rhythm1.09628732
65MP0001348_abnormal_lacrimal_gland1.08537724
66MP0003631_nervous_system_phenotype1.06178153
67MP0004084_abnormal_cardiac_muscle1.05250914
68MP0000920_abnormal_myelination1.04923265
69MP0001299_abnormal_eye_distance/1.04804862
70MP0002152_abnormal_brain_morphology1.03115366
71MP0004233_abnormal_muscle_weight1.02988538
72MP0004215_abnormal_myocardial_fiber1.02103151
73MP0003075_altered_response_to1.00274396
74MP0002332_abnormal_exercise_endurance0.97248677
75MP0000747_muscle_weakness0.95988416
76MP0001984_abnormal_olfaction0.95552804
77MP0000003_abnormal_adipose_tissue0.95446186
78MP0005167_abnormal_blood-brain_barrier0.94584247
79MP0005595_abnormal_vascular_smooth0.93134095
80MP0003122_maternal_imprinting0.93132200
81MP0004510_myositis0.92910828
82MP0000733_abnormal_muscle_development0.91188545
83MP0002896_abnormal_bone_mineralization0.89641902
84MP0004036_abnormal_muscle_relaxation0.89187105
85MP0003172_abnormal_lysosome_physiology0.88393315
86MP0001958_emphysema0.88156140
87MP0001542_abnormal_bone_strength0.87432695
88MP0009384_cardiac_valve_regurgitation0.87395849
89MP0001177_atelectasis0.86834424
90MP0004142_abnormal_muscle_tone0.86795063
91MP0003385_abnormal_body_wall0.86159726
92MP0004087_abnormal_muscle_fiber0.84149800
93MP0002108_abnormal_muscle_morphology0.83748666
94MP0000767_abnormal_smooth_muscle0.83734326
95MP0005620_abnormal_muscle_contractility0.83347862
96MP0003705_abnormal_hypodermis_morpholog0.83144423
97MP0008874_decreased_physiological_sensi0.82667872
98MP0003632_abnormal_nervous_system0.82088903
99MP0003091_abnormal_cell_migration0.81893297
100MP0002090_abnormal_vision0.81882235
101MP0002106_abnormal_muscle_physiology0.81797387
102MP0008438_abnormal_cutaneous_collagen0.81564171
103MP0002229_neurodegeneration0.81517022
104MP0010386_abnormal_urinary_bladder0.81068521
105MP0005369_muscle_phenotype0.77586779
106MP0005508_abnormal_skeleton_morphology0.77056246
107MP0005645_abnormal_hypothalamus_physiol0.76506471
108MP0002069_abnormal_eating/drinking_beha0.76485555
109MP0002972_abnormal_cardiac_muscle0.73987594
110MP0004484_altered_response_of0.72744119
111MP0002295_abnormal_pulmonary_circulatio0.72369871
112MP0000534_abnormal_ureter_morphology0.71954296
113MP0005646_abnormal_pituitary_gland0.71253837
114MP0005187_abnormal_penis_morphology0.71234362
115MP0002269_muscular_atrophy0.69990538
116MP0000749_muscle_degeneration0.69741675
117MP0005535_abnormal_body_temperature0.69685903
118MP0000759_abnormal_skeletal_muscle0.69129495
119MP0002249_abnormal_larynx_morphology0.68894294
120MP0003646_muscle_fatigue0.68285990
121MP0008775_abnormal_heart_ventricle0.68032078
122MP0004742_abnormal_vestibular_system0.66437383
123MP0003045_fibrosis0.66391979
124MP0001905_abnormal_dopamine_level0.64688577

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)5.30300994
2Focal motor seizures (HP:0011153)4.26929115
3Supranuclear gaze palsy (HP:0000605)4.23885331
4Focal seizures (HP:0007359)4.08762867
5Premature rupture of membranes (HP:0001788)3.92135474
6Protrusio acetabuli (HP:0003179)3.77645547
7Type 1 muscle fiber predominance (HP:0003803)3.65495900
8Visual hallucinations (HP:0002367)3.52631163
9Action tremor (HP:0002345)3.47604993
10Ankle clonus (HP:0011448)3.32142591
11Neurofibrillary tangles (HP:0002185)3.18264645
12Mutism (HP:0002300)3.08291034
13Progressive cerebellar ataxia (HP:0002073)2.98415833
14Cerebral inclusion bodies (HP:0100314)2.98209070
15Epileptic encephalopathy (HP:0200134)2.92694361
16Abnormality of the lower motor neuron (HP:0002366)2.79813480
17Spinal rigidity (HP:0003306)2.75151719
18Torticollis (HP:0000473)2.70186824
19Distal lower limb amyotrophy (HP:0008944)2.68913799
20Poor eye contact (HP:0000817)2.65495310
21Round ear (HP:0100830)2.62759998
22Abnormal social behavior (HP:0012433)2.59949598
23Impaired social interactions (HP:0000735)2.59949598
24Generalized tonic-clonic seizures (HP:0002069)2.59065384
25Difficulty climbing stairs (HP:0003551)2.59058364
26Postural instability (HP:0002172)2.57498535
27Abnormal eating behavior (HP:0100738)2.57266159
28Depression (HP:0000716)2.54770616
29Hand muscle atrophy (HP:0009130)2.52879194
30Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.50789860
31Urinary bladder sphincter dysfunction (HP:0002839)2.49427832
32Urinary urgency (HP:0000012)2.48337065
33Mildly elevated creatine phosphokinase (HP:0008180)2.47749995
34Atrophic scars (HP:0001075)2.45250912
35Atonic seizures (HP:0010819)2.44174101
36Absence seizures (HP:0002121)2.43748174
37Dysdiadochokinesis (HP:0002075)2.42422939
38Muscle fiber inclusion bodies (HP:0100299)2.42302556
39Aortic dissection (HP:0002647)2.40532662
40Lower limb amyotrophy (HP:0007210)2.39565529
41Termporal pattern (HP:0011008)2.38736922
42Insidious onset (HP:0003587)2.38736922
43Papilledema (HP:0001085)2.38702907
44Vascular tortuosity (HP:0004948)2.38656987
45Genetic anticipation (HP:0003743)2.37577964
46Rapidly progressive (HP:0003678)2.37393017
47Nemaline bodies (HP:0003798)2.36834659
48Febrile seizures (HP:0002373)2.36671046
49Slender build (HP:0001533)2.35749006
50Insomnia (HP:0100785)2.35521187
51Dysmetria (HP:0001310)2.35479330
52Abnormality of skeletal muscle fiber size (HP:0012084)2.35123569
53Aortic aneurysm (HP:0004942)2.34727920
54Muscle fiber splitting (HP:0003555)2.32540880
55Impaired vibration sensation in the lower limbs (HP:0002166)2.31962814
56Polyphagia (HP:0002591)2.31687031
57Broad-based gait (HP:0002136)2.30868133
58Abnormality of the corticospinal tract (HP:0002492)2.30686837
59Focal dystonia (HP:0004373)2.29200420
60Hemiparesis (HP:0001269)2.27294209
61Sudden death (HP:0001699)2.26516226
62Hemiplegia (HP:0002301)2.25070582
63Lower limb muscle weakness (HP:0007340)2.25044690
64Limb dystonia (HP:0002451)2.24687458
65Bundle branch block (HP:0011710)2.23336173
66Drooling (HP:0002307)2.22810010
67Excessive salivation (HP:0003781)2.22810010
68Arterial tortuosity (HP:0005116)2.22295469
69Increased connective tissue (HP:0009025)2.22166609
70Spastic gait (HP:0002064)2.21249916
71Dialeptic seizures (HP:0011146)2.18989059
72Wormian bones (HP:0002645)2.16945989
73Truncal ataxia (HP:0002078)2.16163213
74Difficulty running (HP:0009046)2.16038279
75Ankle contracture (HP:0006466)2.14928135
76Craniofacial dystonia (HP:0012179)2.14884097
77Upper limb amyotrophy (HP:0009129)2.14780892
78Distal upper limb amyotrophy (HP:0007149)2.14780892
79Pheochromocytoma (HP:0002666)2.14609682
80Wrist flexion contracture (HP:0001239)2.14237899
81Hyperacusis (HP:0010780)2.11820166
82Turricephaly (HP:0000262)2.09778252
83Hyporeflexia of lower limbs (HP:0002600)2.08641586
84Intention tremor (HP:0002080)2.08637983
85Shallow orbits (HP:0000586)2.08495047
86Anxiety (HP:0000739)2.07915195
87Ventricular fibrillation (HP:0001663)2.07577885
88Bowel diverticulosis (HP:0005222)2.06617415
89Fragile skin (HP:0001030)2.06553919
90Hypoventilation (HP:0002791)2.06216076
91Amblyopia (HP:0000646)2.03048006
92Increased variability in muscle fiber diameter (HP:0003557)1.99981242
93Exercise-induced myalgia (HP:0003738)1.99963508
94Failure to thrive in infancy (HP:0001531)1.98029405
95Megalencephaly (HP:0001355)1.98010194
96Broad metatarsal (HP:0001783)1.97553520
97Pointed chin (HP:0000307)1.96181422
98Diminished motivation (HP:0000745)1.94876838
99Neuronal loss in central nervous system (HP:0002529)1.94665717
100Fetal akinesia sequence (HP:0001989)1.93296497
101Dysmetric saccades (HP:0000641)1.93295914
102Abnormality of binocular vision (HP:0011514)1.90801247
103Diplopia (HP:0000651)1.90801247
104Abnormality of dentin (HP:0010299)1.90100419
105Amyotrophic lateral sclerosis (HP:0007354)1.89231101
106Soft skin (HP:0000977)1.88912388
107Bronchomalacia (HP:0002780)1.88861309
108Genu recurvatum (HP:0002816)1.88061293
109Gaze-evoked nystagmus (HP:0000640)1.87306127
110Mitral regurgitation (HP:0001653)1.87282762
111Prolonged QT interval (HP:0001657)1.86464878
112Myotonia (HP:0002486)1.86349043
113Follicular hyperkeratosis (HP:0007502)1.86124295
114Sleep apnea (HP:0010535)1.85712187
115Apathy (HP:0000741)1.85633049
116Distal arthrogryposis (HP:0005684)1.85350863
117Cerebral aneurysm (HP:0004944)1.85169260
118Progressive inability to walk (HP:0002505)1.85062853
119Agitation (HP:0000713)1.84705427
120EEG with generalized epileptiform discharges (HP:0011198)1.83444509
121Bladder diverticulum (HP:0000015)1.83426805
122Distal lower limb muscle weakness (HP:0009053)1.82903238
123Neoplasm of the heart (HP:0100544)1.82758775
124Hammertoe (HP:0001765)1.82711511
125Annular pancreas (HP:0001734)1.82334673
126Bradykinesia (HP:0002067)1.82125356
127Elfin facies (HP:0004428)1.81436989
128Akinesia (HP:0002304)1.81404819
129Limb-girdle muscle weakness (HP:0003325)1.81379459
130Obstructive sleep apnea (HP:0002870)1.81308246
131Epileptiform EEG discharges (HP:0011182)1.81045678
132Hypsarrhythmia (HP:0002521)1.80972292
133Hyperextensible skin (HP:0000974)1.79830463
134Abnormal EKG (HP:0003115)1.79387474
135Stereotypic behavior (HP:0000733)1.78392255
136Ulnar deviation of the wrist (HP:0003049)1.78085250
137Scanning speech (HP:0002168)1.77669784
138Neonatal short-limb short stature (HP:0008921)1.76228797
139Achilles tendon contracture (HP:0001771)1.76056744
140Cervical subluxation (HP:0003308)1.75168633
141Mild short stature (HP:0003502)1.74054345
142Onion bulb formation (HP:0003383)1.73803669
143Aplasia/Hypoplasia of the brainstem (HP:0007362)1.72140424
144Foot dorsiflexor weakness (HP:0009027)1.72056272
145Ulnar bowing (HP:0003031)1.71757541
146Abnormality of the calf musculature (HP:0001430)1.71743563

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.23870750
2MAP3K93.73261514
3NTRK33.15223697
4PAK62.54552818
5EPHA42.49966522
6MINK12.41939123
7DAPK22.33140981
8MAP3K42.18493121
9NTRK22.02892589
10TESK12.01227781
11PHKG11.95245056
12PHKG21.95245056
13NTRK11.93521576
14PRKD31.89768017
15LATS21.84862026
16KSR21.84562353
17CAMKK11.71542903
18KSR11.57727899
19MAP2K41.52846692
20RIPK11.51581452
21TRIB31.50289634
22SIK21.47871541
23CDK51.41639590
24TYRO31.41300425
25MAP2K71.40006535
26CASK1.33442921
27STK381.32509924
28ARAF1.29243898
29PAK31.28424465
30LMTK21.25608077
31ICK1.21434923
32EPHB21.17043018
33TAOK11.12917194
34LIMK11.10487602
35RET1.09914036
36PDGFRA1.09852959
37UHMK11.09773712
38DDR21.09204460
39MAP3K61.05223067
40MYLK1.04254993
41TTN1.03826502
42CAMK2G1.03455602
43CAMK1G1.03188079
44MAPK131.02182587
45MARK20.97098976
46MOS0.94901312
47PAK20.94393596
48DMPK0.91369704
49PRKCH0.90624757
50CDK180.88430462
51PRKD20.88385157
52MAP3K20.87568141
53DYRK20.86191425
54CDK150.85976557
55CDK140.85743641
56PRKCG0.85721402
57GRK50.84370360
58CAMKK20.83393635
59PRPF4B0.81515864
60DAPK10.81160827
61PINK10.78886933
62STK110.78885064
63FER0.75749901
64FGFR20.75594194
65TESK20.75086389
66SGK2230.75028494
67SGK4940.75028494
68CAMK2A0.74916175
69SIK10.74755495
70TNIK0.74710115
71PTK2B0.73453067
72CDK11A0.72609213
73BMX0.72341284
74MAP3K120.72091316
75OBSCN0.71386720
76CDC42BPA0.71308492
77PLK20.70541465
78CSNK1G20.69703271
79CAMK10.68908555
80PNCK0.68575972
81CDK190.66540848
82RIPK40.65533661
83DAPK30.65122332
84ROCK10.64997568
85PRKCZ0.64458874
86ERN10.64224538
87ALK0.63669158
88PKN20.63599590
89SIK30.63247960
90PKN10.62348427
91PDPK10.62130324
92WNK10.61975826
93BCR0.61258454
94RPS6KA20.60923435
95EPHB10.60224108
96MAP3K110.59888209
97CAMK2D0.59419336
98PTK20.58594284
99DYRK1B0.57645772
100TAOK20.56741191
101DYRK1A0.56618510
102FYN0.56444242
103MAPK100.56425376
104FES0.56143606
105CAMK2B0.56044770
106MAPK40.55030975
107SGK10.53602707
108MAPK120.53442541
109ABL20.53420681
110ROCK20.52723632
111SGK30.52279840
112MAP3K70.52162593
113PRKG20.49607034
114PRKD10.49568084
115MAPK70.49365582
116TGFBR20.49071867
117ERBB30.49043583
118SGK20.48997300
119OXSR10.48362735
120MAP2K10.47800332
121PRKCE0.47363730
122MAP3K10.47135451
123CAMK40.47072839
124CAMK1D0.46013372
125PDK10.45553745
126ERBB20.45353317
127PIM20.44076654
128MTOR0.42079280
129PDGFRB0.41699946
130TIE10.39848677

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047212.70998328
2Nicotine addiction_Homo sapiens_hsa050332.45584089
3GABAergic synapse_Homo sapiens_hsa047272.08962895
4Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.06158937
5Circadian entrainment_Homo sapiens_hsa047132.04173166
6Glutamatergic synapse_Homo sapiens_hsa047241.92350001
7Olfactory transduction_Homo sapiens_hsa047401.85892815
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.84548361
9Long-term potentiation_Homo sapiens_hsa047201.75554469
10Morphine addiction_Homo sapiens_hsa050321.74904367
11Nitrogen metabolism_Homo sapiens_hsa009101.69766640
12Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.62232003
13Dopaminergic synapse_Homo sapiens_hsa047281.62046434
14Salivary secretion_Homo sapiens_hsa049701.59974285
15Cholinergic synapse_Homo sapiens_hsa047251.59081976
16Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.55677078
17Axon guidance_Homo sapiens_hsa043601.53536887
18Insulin secretion_Homo sapiens_hsa049111.53028968
19Amphetamine addiction_Homo sapiens_hsa050311.52305318
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.50670885
21Gastric acid secretion_Homo sapiens_hsa049711.48578560
22Oxytocin signaling pathway_Homo sapiens_hsa049211.38630362
23Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.37919768
24Dilated cardiomyopathy_Homo sapiens_hsa054141.33143589
25Cocaine addiction_Homo sapiens_hsa050301.31890850
26Gap junction_Homo sapiens_hsa045401.30444161
27Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.30076377
28Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.30000865
29Renin secretion_Homo sapiens_hsa049241.25975081
30GnRH signaling pathway_Homo sapiens_hsa049121.25275367
31Type II diabetes mellitus_Homo sapiens_hsa049301.20292552
32Glioma_Homo sapiens_hsa052141.14669486
33Long-term depression_Homo sapiens_hsa047301.14514143
34Taste transduction_Homo sapiens_hsa047421.11856058
35Estrogen signaling pathway_Homo sapiens_hsa049151.10503890
36Calcium signaling pathway_Homo sapiens_hsa040201.08680530
37Serotonergic synapse_Homo sapiens_hsa047261.05580372
38Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.05446019
39Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.04335183
40Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.03373781
41ErbB signaling pathway_Homo sapiens_hsa040121.03248637
42Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.02700482
43cAMP signaling pathway_Homo sapiens_hsa040241.01335158
44Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.99036529
45Dorso-ventral axis formation_Homo sapiens_hsa043200.96775522
46Phospholipase D signaling pathway_Homo sapiens_hsa040720.94064031
47Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.93147181
48Melanogenesis_Homo sapiens_hsa049160.92555473
49Glycosaminoglycan degradation_Homo sapiens_hsa005310.91817777
50Cardiac muscle contraction_Homo sapiens_hsa042600.91029955
51cGMP-PKG signaling pathway_Homo sapiens_hsa040220.90524293
52Collecting duct acid secretion_Homo sapiens_hsa049660.89339958
53Bile secretion_Homo sapiens_hsa049760.85845923
54VEGF signaling pathway_Homo sapiens_hsa043700.85419074
55Neurotrophin signaling pathway_Homo sapiens_hsa047220.81660985
56Phosphatidylinositol signaling system_Homo sapiens_hsa040700.80294696
57Vascular smooth muscle contraction_Homo sapiens_hsa042700.80149117
58Arginine biosynthesis_Homo sapiens_hsa002200.79101533
59Renal cell carcinoma_Homo sapiens_hsa052110.78273471
60Circadian rhythm_Homo sapiens_hsa047100.77327166
61Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.76675157
62Salmonella infection_Homo sapiens_hsa051320.73221549
63mTOR signaling pathway_Homo sapiens_hsa041500.72254948
64Protein digestion and absorption_Homo sapiens_hsa049740.72116524
65Endocytosis_Homo sapiens_hsa041440.70924721
66Endometrial cancer_Homo sapiens_hsa052130.69996820
67Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.68927514
68Rap1 signaling pathway_Homo sapiens_hsa040150.68181763
69Choline metabolism in cancer_Homo sapiens_hsa052310.67903354
70MAPK signaling pathway_Homo sapiens_hsa040100.67891419
71Prion diseases_Homo sapiens_hsa050200.67528414
72Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.66598106
73Focal adhesion_Homo sapiens_hsa045100.66079737
74Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.66009941
75Hippo signaling pathway_Homo sapiens_hsa043900.65422405
76Insulin signaling pathway_Homo sapiens_hsa049100.64230434
77Vibrio cholerae infection_Homo sapiens_hsa051100.64081230
78Thyroid hormone signaling pathway_Homo sapiens_hsa049190.63746412
79Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.62500834
80Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.61452471
81Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.61338749
82Longevity regulating pathway - mammal_Homo sapiens_hsa042110.61206293
83Ras signaling pathway_Homo sapiens_hsa040140.60979284
84Amoebiasis_Homo sapiens_hsa051460.60209151
85Carbohydrate digestion and absorption_Homo sapiens_hsa049730.59671739
86Sphingolipid signaling pathway_Homo sapiens_hsa040710.58542864
87Thyroid hormone synthesis_Homo sapiens_hsa049180.57550360
88Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.57530199
89Inositol phosphate metabolism_Homo sapiens_hsa005620.57462531
90Glucagon signaling pathway_Homo sapiens_hsa049220.56567847
91Vitamin B6 metabolism_Homo sapiens_hsa007500.55248920
92Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.55100415
93Butanoate metabolism_Homo sapiens_hsa006500.53610503
94Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.53406727
95Proteoglycans in cancer_Homo sapiens_hsa052050.51845622
96Regulation of actin cytoskeleton_Homo sapiens_hsa048100.51126166
97Adherens junction_Homo sapiens_hsa045200.49786856
98Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.49234496
99Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.48947801
100Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.48118583
101Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.47943812
102Lysosome_Homo sapiens_hsa041420.46951539
103Pancreatic secretion_Homo sapiens_hsa049720.46534878
104Adipocytokine signaling pathway_Homo sapiens_hsa049200.43753583
105AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.43699364
106Fatty acid biosynthesis_Homo sapiens_hsa000610.43098635
107Tight junction_Homo sapiens_hsa045300.43076119
108PI3K-Akt signaling pathway_Homo sapiens_hsa041510.43071764
109Oocyte meiosis_Homo sapiens_hsa041140.43015261
110Central carbon metabolism in cancer_Homo sapiens_hsa052300.42729520
111Phagosome_Homo sapiens_hsa041450.42619749
112Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.42395912
113ECM-receptor interaction_Homo sapiens_hsa045120.42295476
114AMPK signaling pathway_Homo sapiens_hsa041520.41298916
1152-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.40959863

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