BASP1

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 membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuron cell-cell adhesion (GO:0007158)5.94650116
2layer formation in cerebral cortex (GO:0021819)5.79748835
3vocalization behavior (GO:0071625)5.70419013
4regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.44002117
5regulation of short-term neuronal synaptic plasticity (GO:0048172)5.36762988
6neuron recognition (GO:0008038)5.35303896
7protein localization to synapse (GO:0035418)5.33478759
8dendritic spine morphogenesis (GO:0060997)5.17594467
9positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.03040359
10locomotory exploration behavior (GO:0035641)5.01783520
11synaptic vesicle exocytosis (GO:0016079)4.99894290
12positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.92944765
13regulation of glutamate receptor signaling pathway (GO:1900449)4.87394026
14synaptic vesicle maturation (GO:0016188)4.82558591
15axonal fasciculation (GO:0007413)4.78154706
16exploration behavior (GO:0035640)4.74741261
17pyrimidine nucleobase catabolic process (GO:0006208)4.69979480
18ionotropic glutamate receptor signaling pathway (GO:0035235)4.57475697
19glutamate secretion (GO:0014047)4.40734235
20regulation of synaptic vesicle exocytosis (GO:2000300)4.35603089
21glutamate receptor signaling pathway (GO:0007215)4.24147212
22postsynaptic membrane organization (GO:0001941)4.23551422
23negative regulation of microtubule polymerization (GO:0031115)4.16487346
24cell migration in hindbrain (GO:0021535)4.13809787
25positive regulation of synapse maturation (GO:0090129)4.12604760
26nucleobase catabolic process (GO:0046113)4.11175187
27regulation of long-term neuronal synaptic plasticity (GO:0048169)4.09354327
28central nervous system projection neuron axonogenesis (GO:0021952)4.03499187
29proline transport (GO:0015824)3.99769316
30dendrite morphogenesis (GO:0048813)3.98929518
31regulation of synapse structural plasticity (GO:0051823)3.97984255
32cerebellar granule cell differentiation (GO:0021707)3.92234455
33regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.85523691
34neurotransmitter secretion (GO:0007269)3.85085268
35adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.84432908
36regulation of neuronal synaptic plasticity (GO:0048168)3.78090722
37regulation of dendritic spine morphogenesis (GO:0061001)3.77696017
38positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.73606068
39regulation of synaptic vesicle transport (GO:1902803)3.73095951
40axon extension (GO:0048675)3.70329608
41membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.69568670
42synaptic transmission, glutamatergic (GO:0035249)3.68167142
43synaptic vesicle docking involved in exocytosis (GO:0016081)3.64807624
44neuron remodeling (GO:0016322)3.60395395
45neuron-neuron synaptic transmission (GO:0007270)3.56805019
46presynaptic membrane assembly (GO:0097105)3.55532673
47positive regulation of synapse assembly (GO:0051965)3.54557873
48positive regulation of dendritic spine morphogenesis (GO:0061003)3.52306266
49regulation of excitatory postsynaptic membrane potential (GO:0060079)3.51777732
50neurofilament cytoskeleton organization (GO:0060052)3.51382143
51synaptic vesicle endocytosis (GO:0048488)3.51007608
52G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.49376459
53response to auditory stimulus (GO:0010996)3.47815215
54regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.44263403
55gamma-aminobutyric acid signaling pathway (GO:0007214)3.41506878
56regulation of postsynaptic membrane potential (GO:0060078)3.40608134
57neurotransmitter-gated ion channel clustering (GO:0072578)3.38406658
58synapse assembly (GO:0007416)3.37560111
59dendritic spine organization (GO:0097061)3.37553443
60regulation of dendritic spine development (GO:0060998)3.34777957
61transmission of nerve impulse (GO:0019226)3.34098485
62positive regulation of dendritic spine development (GO:0060999)3.32738410
63cellular potassium ion homeostasis (GO:0030007)3.31484149
64regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.30206800
65long-term memory (GO:0007616)3.29840904
66neuron projection extension (GO:1990138)3.27803867
67positive regulation of membrane potential (GO:0045838)3.26239754
68regulation of vesicle fusion (GO:0031338)3.25776228
69neuronal action potential propagation (GO:0019227)3.22575763
70presynaptic membrane organization (GO:0097090)3.22137315
71central nervous system neuron axonogenesis (GO:0021955)3.21913103
72cerebral cortex radially oriented cell migration (GO:0021799)3.21440840
73response to histamine (GO:0034776)3.20569294
74dopamine receptor signaling pathway (GO:0007212)3.19854733
75organelle transport along microtubule (GO:0072384)3.19577117
76gamma-aminobutyric acid transport (GO:0015812)3.19327494
77positive regulation of synaptic transmission, GABAergic (GO:0032230)3.18725939
78regulation of synapse maturation (GO:0090128)3.16980237
79neurotransmitter transport (GO:0006836)3.16548703
80activation of protein kinase A activity (GO:0034199)3.16401696
81neuronal ion channel clustering (GO:0045161)3.15252977
82startle response (GO:0001964)3.14064540
83clathrin coat assembly (GO:0048268)3.14015610
84social behavior (GO:0035176)3.13446222
85intraspecies interaction between organisms (GO:0051703)3.13446222
86positive regulation of neurotransmitter secretion (GO:0001956)3.12605354
87response to nerve growth factor (GO:1990089)3.09965323
88cellular response to nerve growth factor stimulus (GO:1990090)3.09965323
89establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.09068958
90mitochondrion transport along microtubule (GO:0047497)3.09068958
91adult walking behavior (GO:0007628)3.08477224
92synapse organization (GO:0050808)3.08044758
93innervation (GO:0060384)3.07382596
94regulation of synaptic plasticity (GO:0048167)3.06806002
95regulation of cAMP-dependent protein kinase activity (GO:2000479)3.06765271
96negative regulation of synaptic transmission, GABAergic (GO:0032229)3.05149653
97negative regulation of axonogenesis (GO:0050771)3.04808089
98mating behavior (GO:0007617)3.02323365
99regulation of synapse assembly (GO:0051963)3.02009267
100positive regulation of filopodium assembly (GO:0051491)3.01301696
101behavioral fear response (GO:0001662)2.99772540
102behavioral defense response (GO:0002209)2.99772540
103regulation of synapse organization (GO:0050807)2.99629304
104vesicle transport along microtubule (GO:0047496)2.99413185
105cerebellum development (GO:0021549)2.99343463
106auditory behavior (GO:0031223)2.99257480
107neuromuscular process controlling balance (GO:0050885)2.99022937
108suckling behavior (GO:0001967)2.98910732
109regulation of neurotransmitter secretion (GO:0046928)2.98361488
110dendrite development (GO:0016358)2.95202276
111establishment of mitochondrion localization (GO:0051654)2.95128602
112regulation of synaptic transmission, glutamatergic (GO:0051966)2.93585058
113hippocampus development (GO:0021766)2.92977313
114prepulse inhibition (GO:0060134)2.91562859
115learning (GO:0007612)2.91518512
116regulation of neurotransmitter levels (GO:0001505)2.90445787
117regulation of glutamate secretion (GO:0014048)2.89258999
118positive regulation of axon extension (GO:0045773)2.88390994
119regulation of axon extension (GO:0030516)2.85302719
120cell differentiation in hindbrain (GO:0021533)2.81592876
121negative regulation of axon extension (GO:0030517)2.81213865
122positive regulation of neurotransmitter transport (GO:0051590)2.81170833
123regulation of axon guidance (GO:1902667)2.79809045
124regulation of axonogenesis (GO:0050770)2.79167731
125cellular response to monoamine stimulus (GO:0071868)2.77522545
126cellular response to catecholamine stimulus (GO:0071870)2.77522545
127neuromuscular process (GO:0050905)2.76980335
128axonogenesis (GO:0007409)2.76914150
129cerebellar Purkinje cell layer development (GO:0021680)2.76737691
130mechanosensory behavior (GO:0007638)2.75435505
131axon regeneration (GO:0031103)2.73270925
132cerebellar Purkinje cell differentiation (GO:0021702)2.71945532
133neuron projection morphogenesis (GO:0048812)2.71825631
134regulation of extent of cell growth (GO:0061387)2.71764546
135positive regulation of microtubule polymerization or depolymerization (GO:0031112)2.71107105

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.44337058
2GBX2_23144817_ChIP-Seq_PC3_Human3.36949513
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.35052224
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.16605891
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.01810284
6EZH2_27304074_Chip-Seq_ESCs_Mouse2.90211602
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.80624113
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.80624113
9NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.75093670
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.74890767
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.72077112
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.64164874
13* REST_21632747_ChIP-Seq_MESCs_Mouse2.60662759
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.57170674
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.48217881
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.44360671
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.38995485
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.36269561
19RNF2_27304074_Chip-Seq_ESCs_Mouse2.33993720
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.33269711
21* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.10506856
22RCOR2_21632747_ChIP-Seq_MESCs_Mouse2.05745754
23CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.04220642
24RARB_27405468_Chip-Seq_BRAIN_Mouse2.02639540
25IKZF1_21737484_ChIP-ChIP_HCT116_Human2.02631898
26REST_18959480_ChIP-ChIP_MESCs_Mouse2.02302309
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.00181447
28DROSHA_22980978_ChIP-Seq_HELA_Human1.99181695
29* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.88785123
30TAF15_26573619_Chip-Seq_HEK293_Human1.85181099
31ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.84538832
32ZNF274_21170338_ChIP-Seq_K562_Hela1.81996655
33* AR_21572438_ChIP-Seq_LNCaP_Human1.80751566
34CBX2_27304074_Chip-Seq_ESCs_Mouse1.74544249
35TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.65861170
36PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.64010651
37* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.63838457
38BMI1_23680149_ChIP-Seq_NPCS_Mouse1.63360191
39IGF1R_20145208_ChIP-Seq_DFB_Human1.62195504
40EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.60816126
41THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.57672989
42ERG_21242973_ChIP-ChIP_JURKAT_Human1.57126121
43ZFP57_27257070_Chip-Seq_ESCs_Mouse1.56355810
44* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.54956075
45RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.53649096
46RING1B_27294783_Chip-Seq_ESCs_Mouse1.53534319
47OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.52691054
48SMAD4_21799915_ChIP-Seq_A2780_Human1.51629456
49GATA1_26923725_Chip-Seq_HPCs_Mouse1.47911477
50RNF2_27304074_Chip-Seq_NSC_Mouse1.44853768
51* RING1B_27294783_Chip-Seq_NPCs_Mouse1.43545810
52* P300_19829295_ChIP-Seq_ESCs_Human1.43421236
53SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.41584980
54* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.41365795
55MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.37180188
56* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.35938312
57* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.35808555
58CDX2_19796622_ChIP-Seq_MESCs_Mouse1.35438507
59NR3C1_23031785_ChIP-Seq_PC12_Mouse1.35178811
60SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.32743271
61FUS_26573619_Chip-Seq_HEK293_Human1.32592713
62* SMAD3_21741376_ChIP-Seq_EPCs_Human1.31431949
63TRIM28_21343339_ChIP-Seq_HEK293_Human1.30598781
64* SOX2_21211035_ChIP-Seq_LN229_Gbm1.28188731
65WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.24436649
66* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22527927
67ZFP281_18757296_ChIP-ChIP_E14_Mouse1.21431429
68* AR_25329375_ChIP-Seq_VCAP_Human1.21145312
69KDM2B_26808549_Chip-Seq_SUP-B15_Human1.20685644
70* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.18234285
71PIAS1_25552417_ChIP-Seq_VCAP_Human1.15522928
72KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.15070736
73TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.12000771
74P53_22127205_ChIP-Seq_FIBROBLAST_Human1.10319970
75* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.10183207
76POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.10078026
77TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10078026
78* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.08844677
79AR_19668381_ChIP-Seq_PC3_Human1.08648003
80TP53_18474530_ChIP-ChIP_U2OS_Human1.08141014
81SMAD_19615063_ChIP-ChIP_OVARY_Human1.07619142
82* JUN_21703547_ChIP-Seq_K562_Human1.05844625
83* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.05705316
84* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05704881
85* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.05577249
86TP53_20018659_ChIP-ChIP_R1E_Mouse1.05441586
87VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.05209518
88* ARNT_22903824_ChIP-Seq_MCF-7_Human1.04505496
89KDM2B_26808549_Chip-Seq_K562_Human1.04459814
90* CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.03859497
91* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.03783312
92WT1_25993318_ChIP-Seq_PODOCYTE_Human1.02289712
93CTCF_27219007_Chip-Seq_Bcells_Human1.01866262
94* RUNX2_22187159_ChIP-Seq_PCA_Human1.01756060
95BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.01171151
96STAT3_23295773_ChIP-Seq_U87_Human1.00294185
97TP53_16413492_ChIP-PET_HCT116_Human0.99922617
98STAT6_21828071_ChIP-Seq_BEAS2B_Human0.99609062
99GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98225035
100* AHR_22903824_ChIP-Seq_MCF-7_Human0.98192919
101ER_23166858_ChIP-Seq_MCF-7_Human0.96127490
102* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95775133
103KDM2B_26808549_Chip-Seq_JURKAT_Human0.95457426
104* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.95445010
105NR3C1_21868756_ChIP-Seq_MCF10A_Human0.94401397
106DNAJC2_21179169_ChIP-ChIP_NT2_Human0.93608258
107MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.93555238
108* PRDM14_20953172_ChIP-Seq_ESCs_Human0.93395867
109* SMAD3_21741376_ChIP-Seq_ESCs_Human0.92898630
110CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92883327
111* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.91951988
112TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.91752788
113TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91505705
114* TCF4_23295773_ChIP-Seq_U87_Human0.90567396
115ZFP281_27345836_Chip-Seq_ESCs_Mouse0.88922672
116KDM2B_26808549_Chip-Seq_DND41_Human0.88863445
117RBPJ_22232070_ChIP-Seq_NCS_Mouse0.88664033
118ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.83386362
119CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.77546333
120ISL1_27105846_Chip-Seq_CPCs_Mouse0.76763173
121* SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.75326136
122ELK4_26923725_Chip-Seq_MESODERM_Mouse0.74957890
123STAT3_18555785_ChIP-Seq_MESCs_Mouse0.74346991
124DPY_21335234_ChIP-Seq_ESCs_Mouse0.71804385
125PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.71752174
126TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.71007526
127* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.70366437

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.73679405
2MP0003880_abnormal_central_pattern5.43508230
3MP0003635_abnormal_synaptic_transmissio3.94422936
4MP0004270_analgesia3.78607873
5MP0002063_abnormal_learning/memory/cond3.29059931
6MP0005423_abnormal_somatic_nervous3.10920585
7MP0009745_abnormal_behavioral_response3.06356680
8MP0000778_abnormal_nervous_system2.93593484
9MP0001968_abnormal_touch/_nociception2.87134172
10MP0002064_seizures2.75410450
11MP0002734_abnormal_mechanical_nocicepti2.68666648
12MP0002572_abnormal_emotion/affect_behav2.67538960
13MP0006276_abnormal_autonomic_nervous2.58802736
14MP0001440_abnormal_grooming_behavior2.48025951
15MP0009046_muscle_twitch2.42392179
16MP0002735_abnormal_chemical_nociception2.41887425
17MP0002733_abnormal_thermal_nociception2.28548154
18MP0002184_abnormal_innervation2.27609797
19MP0001486_abnormal_startle_reflex2.25968421
20MP0002736_abnormal_nociception_after2.22308351
21MP0002272_abnormal_nervous_system2.00802410
22MP0000569_abnormal_digit_pigmentation1.99984329
23MP0001970_abnormal_pain_threshold1.98848838
24MP0004858_abnormal_nervous_system1.96169629
25MP0003123_paternal_imprinting1.92829441
26MP0003329_amyloid_beta_deposits1.89371543
27MP0009780_abnormal_chondrocyte_physiolo1.86204159
28MP0001501_abnormal_sleep_pattern1.85891293
29MP0002067_abnormal_sensory_capabilities1.85801127
30MP0002557_abnormal_social/conspecific_i1.85774825
31* MP0004811_abnormal_neuron_physiology1.82268122
32MP0004924_abnormal_behavior1.74922987
33MP0005386_behavior/neurological_phenoty1.74922987
34MP0000955_abnormal_spinal_cord1.73931090
35MP0003122_maternal_imprinting1.52890271
36* MP0002882_abnormal_neuron_morphology1.50885442
37MP0001188_hyperpigmentation1.47632985
38MP0002653_abnormal_ependyma_morphology1.43855731
39MP0002909_abnormal_adrenal_gland1.39645316
40MP0001905_abnormal_dopamine_level1.37679569
41MP0009379_abnormal_foot_pigmentation1.37078511
42* MP0002066_abnormal_motor_capabilities/c1.36345288
43MP0001529_abnormal_vocalization1.36081209
44* MP0002152_abnormal_brain_morphology1.34743410
45MP0004885_abnormal_endolymph1.30222219
46MP0003879_abnormal_hair_cell1.28018657
47MP0001348_abnormal_lacrimal_gland1.26180801
48MP0004742_abnormal_vestibular_system1.24343958
49MP0005623_abnormal_meninges_morphology1.20942446
50MP0005645_abnormal_hypothalamus_physiol1.20834876
51MP0001984_abnormal_olfaction1.20809185
52MP0008569_lethality_at_weaning1.17404106
53MP0002102_abnormal_ear_morphology1.12067864
54MP0004133_heterotaxia1.06513711
55MP0003787_abnormal_imprinting1.05835771
56MP0005499_abnormal_olfactory_system1.03201815
57MP0005394_taste/olfaction_phenotype1.03201815
58MP0004142_abnormal_muscle_tone1.02431632
59MP0001502_abnormal_circadian_rhythm1.02328975
60* MP0003861_abnormal_nervous_system1.01274954
61MP0000631_abnormal_neuroendocrine_gland0.97702589
62MP0005187_abnormal_penis_morphology0.97303896
63MP0000751_myopathy0.95386219
64MP0000604_amyloidosis0.95311736
65MP0002822_catalepsy0.93784711
66MP0003690_abnormal_glial_cell0.92831538
67MP0004510_myositis0.92317298
68MP0003633_abnormal_nervous_system0.91350044
69MP0010386_abnormal_urinary_bladder0.89919182
70MP0001542_abnormal_bone_strength0.89822181
71* MP0002752_abnormal_somatic_nervous0.88439560
72MP0003942_abnormal_urinary_system0.88272649
73MP0003631_nervous_system_phenotype0.86898417
74MP0003303_peritoneal_inflammation0.86652518
75MP0002069_abnormal_eating/drinking_beha0.85735977
76MP0003283_abnormal_digestive_organ0.85294293
77MP0005257_abnormal_intraocular_pressure0.83405408
78MP0002638_abnormal_pupillary_reflex0.82520418
79* MP0003634_abnormal_glial_cell0.80243762
80MP0005248_abnormal_Harderian_gland0.79190198
81MP0001963_abnormal_hearing_physiology0.78967723
82MP0000537_abnormal_urethra_morphology0.78167325
83MP0000920_abnormal_myelination0.78160469
84MP0003938_abnormal_ear_development0.76105039
85MP0008789_abnormal_olfactory_epithelium0.72833028
86MP0005377_hearing/vestibular/ear_phenot0.72555550
87MP0003878_abnormal_ear_physiology0.72555550
88MP0002751_abnormal_autonomic_nervous0.72391465
89MP0002877_abnormal_melanocyte_morpholog0.71980799
90MP0003119_abnormal_digestive_system0.70302341
91MP0002229_neurodegeneration0.69853597
92MP0003632_abnormal_nervous_system0.68791574
93MP0004145_abnormal_muscle_electrophysio0.68738535
94MP0003890_abnormal_embryonic-extraembry0.68570806
95MP0004085_abnormal_heartbeat0.68246118
96MP0001177_atelectasis0.68108563
97MP0000026_abnormal_inner_ear0.67105821
98MP0002928_abnormal_bile_duct0.67007787
99MP0008874_decreased_physiological_sensi0.66993587
100MP0006292_abnormal_olfactory_placode0.66457586
101MP0002090_abnormal_vision0.66092010
102MP0002234_abnormal_pharynx_morphology0.65886870
103MP0000534_abnormal_ureter_morphology0.65693119
104MP0001299_abnormal_eye_distance/0.65373283
105MP0003121_genomic_imprinting0.65107724
106MP0001943_abnormal_respiration0.65004759
107MP0005409_darkened_coat_color0.65001770
108MP0000049_abnormal_middle_ear0.63920507
109MP0010234_abnormal_vibrissa_follicle0.63273691
110MP0002081_perinatal_lethality0.63212055
111MP0003385_abnormal_body_wall0.62466146
112* MP0010770_preweaning_lethality0.61599800
113* MP0002082_postnatal_lethality0.61599800
114MP0000579_abnormal_nail_morphology0.61452765
115MP0004484_altered_response_of0.60727710
116MP0008872_abnormal_physiological_respon0.60544652
117MP0005551_abnormal_eye_electrophysiolog0.59421264
118MP0006072_abnormal_retinal_apoptosis0.58937862
119MP0002837_dystrophic_cardiac_calcinosis0.58654622
120MP0003137_abnormal_impulse_conducting0.57483292
121MP0004233_abnormal_muscle_weight0.56805261
122MP0005535_abnormal_body_temperature0.56684650

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.79631689
2Visual hallucinations (HP:0002367)5.47934117
3Focal seizures (HP:0007359)5.07721218
4Myokymia (HP:0002411)4.98790152
5Mutism (HP:0002300)4.40984201
6Supranuclear gaze palsy (HP:0000605)4.13236513
7Epileptic encephalopathy (HP:0200134)4.12662119
8Atonic seizures (HP:0010819)4.00870531
9Cerebral inclusion bodies (HP:0100314)3.90594550
10Amyotrophic lateral sclerosis (HP:0007354)3.79713253
11Absence seizures (HP:0002121)3.79512987
12Amblyopia (HP:0000646)3.61722845
13Drooling (HP:0002307)3.58658833
14Excessive salivation (HP:0003781)3.58658833
15Progressive cerebellar ataxia (HP:0002073)3.57171436
16Limb dystonia (HP:0002451)3.50465275
17Broad-based gait (HP:0002136)3.46855701
18Generalized tonic-clonic seizures (HP:0002069)3.42885185
19Dialeptic seizures (HP:0011146)3.41209249
20Papilledema (HP:0001085)3.24659131
21Neurofibrillary tangles (HP:0002185)3.23857094
22Febrile seizures (HP:0002373)3.21800561
23Inappropriate behavior (HP:0000719)3.09732427
24Hyperventilation (HP:0002883)3.09024034
25Progressive inability to walk (HP:0002505)3.04650331
26Polyphagia (HP:0002591)2.96587756
27Insidious onset (HP:0003587)2.96289223
28Termporal pattern (HP:0011008)2.96289223
29Abnormality of the corticospinal tract (HP:0002492)2.88790531
30Ankle clonus (HP:0011448)2.85576981
31Morphological abnormality of the middle ear (HP:0008609)2.84721660
32Poor eye contact (HP:0000817)2.84580725
33Apathy (HP:0000741)2.72807596
34Hemiparesis (HP:0001269)2.72529535
35Akinesia (HP:0002304)2.72455204
36Agitation (HP:0000713)2.71355592
37Abnormality of binocular vision (HP:0011514)2.69155464
38Diplopia (HP:0000651)2.69155464
39Epileptiform EEG discharges (HP:0011182)2.58900102
40Genetic anticipation (HP:0003743)2.57592345
41Urinary bladder sphincter dysfunction (HP:0002839)2.57533766
42Genu recurvatum (HP:0002816)2.56509658
43EEG with generalized epileptiform discharges (HP:0011198)2.56433511
44Action tremor (HP:0002345)2.52114312
45Aplasia/Hypoplasia of the brainstem (HP:0007362)2.51343172
46Hypoplasia of the brainstem (HP:0002365)2.51343172
47Abnormal eating behavior (HP:0100738)2.50603064
48Abnormal social behavior (HP:0012433)2.47582357
49Impaired social interactions (HP:0000735)2.47582357
50Diminished motivation (HP:0000745)2.46694565
51Hypsarrhythmia (HP:0002521)2.45142566
52Megalencephaly (HP:0001355)2.44079436
53Urinary urgency (HP:0000012)2.43898856
54Abnormality of salivation (HP:0100755)2.42979404
55Impaired vibration sensation in the lower limbs (HP:0002166)2.42902733
56Absent speech (HP:0001344)2.40585325
57Peritonitis (HP:0002586)2.40210380
58Neonatal short-limb short stature (HP:0008921)2.39305842
59Inability to walk (HP:0002540)2.38153395
60Depression (HP:0000716)2.35737418
61Mild short stature (HP:0003502)2.32089526
62Abnormality of the lower motor neuron (HP:0002366)2.30681749
63Fetal akinesia sequence (HP:0001989)2.29639326
64Cortical dysplasia (HP:0002539)2.29543695
65Truncal ataxia (HP:0002078)2.28871728
66Stereotypic behavior (HP:0000733)2.27596306
67Anxiety (HP:0000739)2.26792127
68Obstructive sleep apnea (HP:0002870)2.25960404
69Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.25314651
70Shoulder girdle muscle weakness (HP:0003547)2.24131528
71Hemiplegia (HP:0002301)2.22903569
72Lissencephaly (HP:0001339)2.22326224
73Exotropia (HP:0000577)2.20956770
74Craniofacial dystonia (HP:0012179)2.19564500
75Hyperthyroidism (HP:0000836)2.19247179
76Lower limb amyotrophy (HP:0007210)2.16924958
77Ulnar claw (HP:0001178)2.15018272
78Hypoventilation (HP:0002791)2.11554127
79Sporadic (HP:0003745)2.11449536
80Disinhibition (HP:0000734)2.10956261
81Nuclear cataract (HP:0100018)2.06442786
82Generalized myoclonic seizures (HP:0002123)2.06380444
83Dysdiadochokinesis (HP:0002075)2.05522042
84Spastic gait (HP:0002064)2.04293828
85Protruding tongue (HP:0010808)2.04042139
86Morphological abnormality of the pyramidal tract (HP:0002062)2.03062573
87Pachygyria (HP:0001302)2.01322556
88Rapidly progressive (HP:0003678)1.99069947
89Torticollis (HP:0000473)1.97941282
90Buphthalmos (HP:0000557)1.96202677
91Dysmetria (HP:0001310)1.94707891
92Elfin facies (HP:0004428)1.93175668
93Neuronal loss in central nervous system (HP:0002529)1.92614622
94Lower limb asymmetry (HP:0100559)1.92121600
95Atrophic scars (HP:0001075)1.92040800
96Hammertoe (HP:0001765)1.90850805
97Lower limb muscle weakness (HP:0007340)1.90467508
98Gait imbalance (HP:0002141)1.90368135
99Hyperacusis (HP:0010780)1.89734517
100Gaze-evoked nystagmus (HP:0000640)1.87460264
101Spastic tetraplegia (HP:0002510)1.87330486
102Bradykinesia (HP:0002067)1.85382754
103Aqueductal stenosis (HP:0002410)1.82064740
104Restlessness (HP:0000711)1.81819392
105Wide anterior fontanel (HP:0000260)1.80555526
106Decreased motor nerve conduction velocity (HP:0003431)1.79371757
107Postural instability (HP:0002172)1.78519396
108Sleep apnea (HP:0010535)1.78140458
109Abnormality of dentin (HP:0010299)1.78108824
110Psychosis (HP:0000709)1.78002996
111Focal dystonia (HP:0004373)1.77954738
112Spastic tetraparesis (HP:0001285)1.77765004
113Calcaneovalgus deformity (HP:0001848)1.77158448
114Insomnia (HP:0100785)1.76171852
115Overriding aorta (HP:0002623)1.75297772
116Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.74773620
117Degeneration of the lateral corticospinal tracts (HP:0002314)1.74773620
118Esotropia (HP:0000565)1.74693875
119Turricephaly (HP:0000262)1.73863606
120Renal duplication (HP:0000075)1.73039162
121Incomplete penetrance (HP:0003829)1.72728877
122Vascular tortuosity (HP:0004948)1.71677942
123Impaired smooth pursuit (HP:0007772)1.71532660
124Failure to thrive in infancy (HP:0001531)1.71509069
125Specific learning disability (HP:0001328)1.71477172
126Bronchomalacia (HP:0002780)1.71154789
127Autism (HP:0000717)1.70059404
128Shawl scrotum (HP:0000049)1.69985506
129Vertebral arch anomaly (HP:0008438)1.66854042
130Segmental peripheral demyelination/remyelination (HP:0003481)1.65776157
131Hypoplasia of the corpus callosum (HP:0002079)1.63947454

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK16.08776082
2MAP3K93.89228548
3NTRK33.41969592
4EPHA43.05165657
5MAP3K42.97055512
6MINK12.92832738
7PNCK2.76797156
8SIK22.55445373
9MAP2K72.44504646
10NTRK22.34217153
11MAP3K122.17494696
12MAPK132.02785913
13PAK61.99355155
14PLK21.98757064
15CASK1.93994366
16LATS21.93533940
17DAPK21.92976438
18RIPK41.86630706
19MAP2K41.80075915
20KSR11.80062697
21DYRK21.64018887
22NTRK11.60575774
23KSR21.57452069
24GRK51.55244693
25PHKG11.52163297
26PHKG21.52163297
27CDK51.41973388
28CAMKK11.32513932
29MOS1.28940229
30ERBB31.22956946
31FGR1.22031095
32CSNK1G21.19214210
33UHMK11.17714076
34TNIK1.16416491
35DAPK11.14812454
36PAK31.12923004
37CDK141.06966724
38PRKCG1.06098991
39DYRK1A1.03150422
40SGK4940.99376722
41SGK2230.99376722
42TYRO30.98699665
43CDK150.96447301
44CDK180.95693096
45CAMK2A0.95466682
46RIPK10.95190159
47ARAF0.94141409
48FES0.93453945
49MAP3K110.89458279
50STK110.89393253
51MAP3K60.88774293
52MAPK150.88354980
53CDK11A0.84971715
54NME10.84811599
55PRKCH0.83667326
56RET0.81900620
57PTK2B0.81758418
58DYRK1B0.78345484
59CDK190.78338210
60SGK20.78313388
61MARK20.76046820
62PKN10.75261041
63CSNK1G30.74978139
64LIMK10.74361745
65PRKCZ0.74228925
66PRKD30.73078968
67EPHB20.68363103
68SCYL20.67284756
69CAMK1G0.65812957
70CAMK2B0.65316995
71ALK0.63237244
72MAP3K20.62178567
73CAMKK20.59127076
74SGK30.57863324
75DYRK30.57554312
76RAF10.57065872
77MAPK120.53388117
78RPS6KA20.53179094
79GRK60.53161033
80CSNK1A1L0.52899618
81BMPR20.52630791
82CSK0.50947157
83PINK10.49968029
84MAP3K130.49208711
85PRKCE0.48842842
86FYN0.48561880
87SGK10.47879886
88YES10.47742164
89STK380.47528841
90GRK70.47286444
91PRPF4B0.47255372
92CAMK10.44026936
93ADRBK10.42624719
94MAPK40.42588428
95TAOK10.41857972
96ADRBK20.41652768
97ICK0.40766779
98DAPK30.40458504
99FER0.39537609
100WNK30.38992871
101PDGFRB0.36320162
102MAP2K10.35045890
103CSNK1G10.34565469
104ROCK20.34270054
105RPS6KA40.33257253
106RPS6KA30.32621104
107MAPK90.32048299
108CAMK2G0.31920796
109TRIB30.31781706
110DDR20.31580873
111BCR0.30119877
112MATK0.30018072
113MAPK100.29645728
114CSNK1E0.29331217
115ABL20.27716771
116CAMK2D0.27665923
117PDGFRA0.27547526
118PRKCB0.27415421
119RPS6KA10.27149529
120SIK10.25872172
121EPHB10.25510793
122MAP3K50.24752899
123RPS6KL10.23878590
124RPS6KC10.23878590
125ROCK10.23828502
126BRAF0.23780243
127WNK40.22991095
128OXSR10.22944602
129PRKG10.21986961
130PRKCD0.21938231
131MAPK80.21478090
132PLK30.21183852

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.58655497
2Synaptic vesicle cycle_Homo sapiens_hsa047212.80703577
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.50263575
4Long-term potentiation_Homo sapiens_hsa047202.47806812
5GABAergic synapse_Homo sapiens_hsa047272.35211324
6Glutamatergic synapse_Homo sapiens_hsa047242.32141334
7Circadian entrainment_Homo sapiens_hsa047132.28409199
8Morphine addiction_Homo sapiens_hsa050322.18463808
9Dopaminergic synapse_Homo sapiens_hsa047282.14619274
10Olfactory transduction_Homo sapiens_hsa047402.14129919
11Amphetamine addiction_Homo sapiens_hsa050312.12583200
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.05663461
13Axon guidance_Homo sapiens_hsa043601.87299407
14Cholinergic synapse_Homo sapiens_hsa047251.84471643
15Long-term depression_Homo sapiens_hsa047301.80299684
16Salivary secretion_Homo sapiens_hsa049701.79211808
17Serotonergic synapse_Homo sapiens_hsa047261.78531460
18Renin secretion_Homo sapiens_hsa049241.74728339
19Taste transduction_Homo sapiens_hsa047421.63746548
20Gap junction_Homo sapiens_hsa045401.62874010
21Gastric acid secretion_Homo sapiens_hsa049711.61209580
22Oxytocin signaling pathway_Homo sapiens_hsa049211.59498843
23Cocaine addiction_Homo sapiens_hsa050301.58289717
24Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.51915621
25Aldosterone synthesis and secretion_Homo sapiens_hsa049251.51844664
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.50897920
27Insulin secretion_Homo sapiens_hsa049111.48921982
28GnRH signaling pathway_Homo sapiens_hsa049121.47507752
29Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.37738074
30Glioma_Homo sapiens_hsa052141.36975924
31Estrogen signaling pathway_Homo sapiens_hsa049151.35456170
32Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.32580046
33Collecting duct acid secretion_Homo sapiens_hsa049661.31785765
34Calcium signaling pathway_Homo sapiens_hsa040201.27731277
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.23809211
36ErbB signaling pathway_Homo sapiens_hsa040121.23787241
37Melanogenesis_Homo sapiens_hsa049161.20134784
38Cardiac muscle contraction_Homo sapiens_hsa042601.10549096
39cAMP signaling pathway_Homo sapiens_hsa040241.01757410
40Type II diabetes mellitus_Homo sapiens_hsa049301.01082587
41Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.99535080
42Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.95109199
43Alzheimers disease_Homo sapiens_hsa050100.93421120
44Oocyte meiosis_Homo sapiens_hsa041140.92649186
45Vibrio cholerae infection_Homo sapiens_hsa051100.91253489
46VEGF signaling pathway_Homo sapiens_hsa043700.90591924
47cGMP-PKG signaling pathway_Homo sapiens_hsa040220.89592936
48Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.89488208
49Renal cell carcinoma_Homo sapiens_hsa052110.89314212
50Dorso-ventral axis formation_Homo sapiens_hsa043200.88981958
51Neurotrophin signaling pathway_Homo sapiens_hsa047220.87225259
52Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.83962892
53Phospholipase D signaling pathway_Homo sapiens_hsa040720.82882434
54Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.82822583
55Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.82806981
56Notch signaling pathway_Homo sapiens_hsa043300.82733153
57Osteoclast differentiation_Homo sapiens_hsa043800.82537926
58Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.82186531
59MAPK signaling pathway_Homo sapiens_hsa040100.81198569
60Endometrial cancer_Homo sapiens_hsa052130.81080687
61Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.80404831
62Colorectal cancer_Homo sapiens_hsa052100.79831998
63Phototransduction_Homo sapiens_hsa047440.79590762
64Prolactin signaling pathway_Homo sapiens_hsa049170.78021833
65Toll-like receptor signaling pathway_Homo sapiens_hsa046200.77196271
66Choline metabolism in cancer_Homo sapiens_hsa052310.76625237
67Amoebiasis_Homo sapiens_hsa051460.75153094
68Oxidative phosphorylation_Homo sapiens_hsa001900.75119715
69Vascular smooth muscle contraction_Homo sapiens_hsa042700.74880427
70Phosphatidylinositol signaling system_Homo sapiens_hsa040700.73928660
71AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.73585529
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.72057034
73Ras signaling pathway_Homo sapiens_hsa040140.70687877
74B cell receptor signaling pathway_Homo sapiens_hsa046620.70179193
75Wnt signaling pathway_Homo sapiens_hsa043100.69465024
76Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.69245596
77Dilated cardiomyopathy_Homo sapiens_hsa054140.68411205
78Alcoholism_Homo sapiens_hsa050340.65564126
79Parkinsons disease_Homo sapiens_hsa050120.65562362
80Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.65543693
81Rap1 signaling pathway_Homo sapiens_hsa040150.65084811
82Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.63368821
83Basal cell carcinoma_Homo sapiens_hsa052170.62905808
84Prion diseases_Homo sapiens_hsa050200.62133598
85Tuberculosis_Homo sapiens_hsa051520.61964349
86Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.61352420
87Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.59898326
88African trypanosomiasis_Homo sapiens_hsa051430.58913245
89Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.58467385
90mTOR signaling pathway_Homo sapiens_hsa041500.57493099
91Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.56409393
92Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.54817132
93Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.53693234
94Non-small cell lung cancer_Homo sapiens_hsa052230.53063316
95Thyroid hormone synthesis_Homo sapiens_hsa049180.50565540
96Huntingtons disease_Homo sapiens_hsa050160.50311302
97Phagosome_Homo sapiens_hsa041450.49708878
98Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.49419753
99Endocytosis_Homo sapiens_hsa041440.47784334
100Insulin signaling pathway_Homo sapiens_hsa049100.47298146
101Rheumatoid arthritis_Homo sapiens_hsa053230.47070517
102Thyroid hormone signaling pathway_Homo sapiens_hsa049190.46751108
103Pancreatic secretion_Homo sapiens_hsa049720.46461703
104Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.46222946
105Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.46166987
106Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.44425025
107Regulation of actin cytoskeleton_Homo sapiens_hsa048100.44206516
108Melanoma_Homo sapiens_hsa052180.43988529
109Hedgehog signaling pathway_Homo sapiens_hsa043400.43767998
110Chemokine signaling pathway_Homo sapiens_hsa040620.42029222
111Carbohydrate digestion and absorption_Homo sapiens_hsa049730.41174515
112Hippo signaling pathway_Homo sapiens_hsa043900.39823329
113Salmonella infection_Homo sapiens_hsa051320.39805163
114NOD-like receptor signaling pathway_Homo sapiens_hsa046210.39312345
115TNF signaling pathway_Homo sapiens_hsa046680.39310705
116Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.39154400
117Glucagon signaling pathway_Homo sapiens_hsa049220.39147884
118Adherens junction_Homo sapiens_hsa045200.38578402
119Malaria_Homo sapiens_hsa051440.38514457

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