B3GAT1

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





Description: The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.19324306
2synaptic vesicle maturation (GO:0016188)6.15799679
3locomotory exploration behavior (GO:0035641)6.01156313
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.78788669
5vocalization behavior (GO:0071625)5.70682507
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.50754965
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.42262542
8synaptic vesicle exocytosis (GO:0016079)5.27150606
9glutamate secretion (GO:0014047)5.16114814
10regulation of glutamate receptor signaling pathway (GO:1900449)5.04908448
11layer formation in cerebral cortex (GO:0021819)5.03736066
12protein localization to synapse (GO:0035418)5.03074526
13neuron cell-cell adhesion (GO:0007158)5.00597312
14central nervous system myelination (GO:0022010)4.98839833
15axon ensheathment in central nervous system (GO:0032291)4.98839833
16regulation of synaptic vesicle exocytosis (GO:2000300)4.88471618
17ionotropic glutamate receptor signaling pathway (GO:0035235)4.82005411
18exploration behavior (GO:0035640)4.80789678
19synaptic vesicle docking involved in exocytosis (GO:0016081)4.79334989
20dendritic spine morphogenesis (GO:0060997)4.69024373
21regulation of neuronal synaptic plasticity (GO:0048168)4.58885960
22regulation of long-term neuronal synaptic plasticity (GO:0048169)4.54409913
23regulation of synapse structural plasticity (GO:0051823)4.41945551
24cerebellar granule cell differentiation (GO:0021707)4.35367207
25regulation of synaptic vesicle transport (GO:1902803)4.33539414
26neurotransmitter secretion (GO:0007269)4.24529268
27synaptic transmission, glutamatergic (GO:0035249)4.21217078
28glutamate receptor signaling pathway (GO:0007215)4.20886244
29amino acid import (GO:0043090)4.19570280
30neuronal action potential propagation (GO:0019227)4.11626563
31neuron recognition (GO:0008038)4.10920566
32neurotransmitter-gated ion channel clustering (GO:0072578)4.10096849
33regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.00010699
34gamma-aminobutyric acid transport (GO:0015812)3.99613353
35regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.98272811
36long-term memory (GO:0007616)3.94699453
37neuron-neuron synaptic transmission (GO:0007270)3.91026666
38regulation of dendritic spine morphogenesis (GO:0061001)3.89835939
39positive regulation of membrane potential (GO:0045838)3.88890456
40axonal fasciculation (GO:0007413)3.84353333
41proline transport (GO:0015824)3.82899198
42regulation of excitatory postsynaptic membrane potential (GO:0060079)3.78209194
43potassium ion import (GO:0010107)3.77363171
44positive regulation of synapse maturation (GO:0090129)3.77280946
45dendrite morphogenesis (GO:0048813)3.75444124
46potassium ion homeostasis (GO:0055075)3.71000362
47cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.70397375
48transmission of nerve impulse (GO:0019226)3.66889099
49postsynaptic membrane organization (GO:0001941)3.62824578
50auditory behavior (GO:0031223)3.62581459
51regulation of voltage-gated calcium channel activity (GO:1901385)3.60434247
52regulation of postsynaptic membrane potential (GO:0060078)3.59733468
53regulation of synaptic plasticity (GO:0048167)3.59056686
54cellular potassium ion homeostasis (GO:0030007)3.58452550
55positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.58020282
56membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.54545866
57neuromuscular process controlling balance (GO:0050885)3.46213531
58neurotransmitter transport (GO:0006836)3.45288873
59positive regulation of dendritic spine development (GO:0060999)3.39036730
60regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.38086654
61membrane depolarization during action potential (GO:0086010)3.38036223
62synaptic vesicle endocytosis (GO:0048488)3.37362557
63activation of protein kinase A activity (GO:0034199)3.36889628
64positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.35698929
65regulation of dendritic spine development (GO:0060998)3.34788981
66response to auditory stimulus (GO:0010996)3.34564202
67central nervous system projection neuron axonogenesis (GO:0021952)3.34173791
68dendritic spine organization (GO:0097061)3.33376046
69neurotransmitter uptake (GO:0001504)3.33194708
70negative regulation of dendrite morphogenesis (GO:0050774)3.32930602
71regulation of neurotransmitter secretion (GO:0046928)3.32883121
72presynaptic membrane assembly (GO:0097105)3.30560160
73regulation of synapse maturation (GO:0090128)3.30202211
74cell migration in hindbrain (GO:0021535)3.30149522
75sodium ion export (GO:0071436)3.29377224
76long-term synaptic potentiation (GO:0060291)3.28927335
77establishment of mitochondrion localization (GO:0051654)3.26268095
78acidic amino acid transport (GO:0015800)3.26230039
79regulation of synaptic transmission, glutamatergic (GO:0051966)3.24972397
80positive regulation of dendritic spine morphogenesis (GO:0061003)3.24527531
81gamma-aminobutyric acid signaling pathway (GO:0007214)3.23904075
82regulation of vesicle fusion (GO:0031338)3.23297823
83positive regulation of synaptic transmission, GABAergic (GO:0032230)3.23021833
84neuromuscular synaptic transmission (GO:0007274)3.22409307
85neuronal ion channel clustering (GO:0045161)3.20126891
86G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.20020587
87positive regulation of neurotransmitter secretion (GO:0001956)3.19504282
88cellular sodium ion homeostasis (GO:0006883)3.17740310
89regulation of neurotransmitter levels (GO:0001505)3.17692920
90negative regulation of synaptic transmission, GABAergic (GO:0032229)3.16481627
91pyrimidine nucleobase catabolic process (GO:0006208)3.15648981
92regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.13671418
93presynaptic membrane organization (GO:0097090)3.13516141
94learning (GO:0007612)3.13456211
95synapse assembly (GO:0007416)3.10663207
96glycine transport (GO:0015816)3.10232524
97L-amino acid import (GO:0043092)3.08876982
98innervation (GO:0060384)3.07431084
99cerebellar Purkinje cell differentiation (GO:0021702)3.04175554
100regulation of neurotransmitter transport (GO:0051588)3.03949967
101mechanosensory behavior (GO:0007638)3.03792348
102synaptic transmission (GO:0007268)3.03493221
103membrane depolarization (GO:0051899)3.03336167
104prepulse inhibition (GO:0060134)3.01243324
105positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.00276520
106positive regulation of neurotransmitter transport (GO:0051590)3.00241198
107cell communication by electrical coupling (GO:0010644)2.99125546
108vesicle transport along microtubule (GO:0047496)2.98495402
109intraspecies interaction between organisms (GO:0051703)2.97503583
110social behavior (GO:0035176)2.97503583
111organelle transport along microtubule (GO:0072384)2.97211719
112neuromuscular process (GO:0050905)2.96371956
113G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.96356182
114regulation of ARF protein signal transduction (GO:0032012)2.96337589
115behavioral defense response (GO:0002209)2.95974516
116behavioral fear response (GO:0001662)2.95974516
117cell differentiation in hindbrain (GO:0021533)2.94947251
118membrane hyperpolarization (GO:0060081)2.94636916
119regulation of synaptic transmission (GO:0050804)2.94389976
120cerebellar Purkinje cell layer development (GO:0021680)2.94261169
121synapse organization (GO:0050808)2.91871984
122adult walking behavior (GO:0007628)2.91485581

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.28308952
2GBX2_23144817_ChIP-Seq_PC3_Human3.35982724
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.10802529
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.10221769
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.98387019
6RNF2_18974828_ChIP-Seq_MESCs_Mouse2.74321443
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.74321443
8* REST_21632747_ChIP-Seq_MESCs_Mouse2.73376007
9RARB_27405468_Chip-Seq_BRAIN_Mouse2.61899294
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.61638711
11DROSHA_22980978_ChIP-Seq_HELA_Human2.61098511
12SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.57291781
13EZH2_27304074_Chip-Seq_ESCs_Mouse2.56202148
14SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.53264407
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.53125878
16MTF2_20144788_ChIP-Seq_MESCs_Mouse2.52931957
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.44948797
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.35173489
19* EZH2_27294783_Chip-Seq_ESCs_Mouse2.32776716
20* RNF2_27304074_Chip-Seq_ESCs_Mouse2.23589654
21REST_18959480_ChIP-ChIP_MESCs_Mouse2.23349008
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.22756135
23CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.14232702
24NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.09595609
25AR_21572438_ChIP-Seq_LNCaP_Human1.98885156
26MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.98309713
27EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.98136336
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.97862352
29IKZF1_21737484_ChIP-ChIP_HCT116_Human1.92711177
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.78058823
31* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.62858839
32ERG_21242973_ChIP-ChIP_JURKAT_Human1.59407795
33SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.56129491
34* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.54664159
35THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.52592988
36TAF15_26573619_Chip-Seq_HEK293_Human1.49408922
37SMAD4_21799915_ChIP-Seq_A2780_Human1.46816130
38RING1B_27294783_Chip-Seq_ESCs_Mouse1.41628393
39PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.40213663
40ZNF274_21170338_ChIP-Seq_K562_Hela1.36006753
41PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.34428315
42SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31046230
43RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.30942399
44RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.30471521
45ZFP57_27257070_Chip-Seq_ESCs_Mouse1.27680467
46SMAD3_21741376_ChIP-Seq_EPCs_Human1.27569697
47* SOX2_21211035_ChIP-Seq_LN229_Gbm1.26869880
48RING1B_27294783_Chip-Seq_NPCs_Mouse1.24974103
49SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.22601604
50* CBX2_27304074_Chip-Seq_ESCs_Mouse1.22129405
51* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.20630940
52WT1_25993318_ChIP-Seq_PODOCYTE_Human1.20556316
53WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.20142756
54NR3C1_23031785_ChIP-Seq_PC12_Mouse1.19692300
55P300_19829295_ChIP-Seq_ESCs_Human1.19326614
56AR_19668381_ChIP-Seq_PC3_Human1.18352325
57OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.18087525
58KDM2B_26808549_Chip-Seq_K562_Human1.17642511
59* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.16827912
60OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.15673906
61AR_25329375_ChIP-Seq_VCAP_Human1.15518921
62STAT3_23295773_ChIP-Seq_U87_Human1.15117022
63ZFP281_18757296_ChIP-ChIP_E14_Mouse1.14554488
64P53_22127205_ChIP-Seq_FIBROBLAST_Human1.13887568
65GATA1_26923725_Chip-Seq_HPCs_Mouse1.11952546
66TOP2B_26459242_ChIP-Seq_MCF-7_Human1.10127973
67IGF1R_20145208_ChIP-Seq_DFB_Human1.09064297
68VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.07001553
69TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.05270579
70ZNF217_24962896_ChIP-Seq_MCF-7_Human1.05140021
71* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.04700279
72* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04591883
73YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03754800
74ARNT_22903824_ChIP-Seq_MCF-7_Human1.03230031
75RNF2_27304074_Chip-Seq_NSC_Mouse1.01700855
76CDX2_19796622_ChIP-Seq_MESCs_Mouse1.01644700
77SMAD_19615063_ChIP-ChIP_OVARY_Human1.01250699
78TCF4_23295773_ChIP-Seq_U87_Human1.00242010
79* TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.99407397
80BMI1_23680149_ChIP-Seq_NPCS_Mouse0.99185544
81MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98715319
82* PIAS1_25552417_ChIP-Seq_VCAP_Human0.97716779
83AHR_22903824_ChIP-Seq_MCF-7_Human0.97468234
84GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94760572
85SMAD4_21741376_ChIP-Seq_HESCs_Human0.94448793
86CTNNB1_20460455_ChIP-Seq_HCT116_Human0.94260179
87EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.93692721
88SMAD3_21741376_ChIP-Seq_ESCs_Human0.93343184
89PRDM14_20953172_ChIP-Seq_ESCs_Human0.93029980
90NR3C1_21868756_ChIP-Seq_MCF10A_Human0.92890028
91SMAD3_21741376_ChIP-Seq_HESCs_Human0.92302816
92* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.91186170
93LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91048491
94POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.90592251
95TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90592251
96GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.90052429
97RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.89044452
98* RUNX2_22187159_ChIP-Seq_PCA_Human0.88906381
99TP53_16413492_ChIP-PET_HCT116_Human0.87559451
100TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.87467138
101CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.87211662
102TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86216764
103ZFP281_27345836_Chip-Seq_ESCs_Mouse0.86133226
104PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.85657595
105CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85071666
106TET1_21490601_ChIP-Seq_MESCs_Mouse0.85000948
107TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.84920955
108CTCF_27219007_Chip-Seq_Bcells_Human0.84800960
109MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.83288567
110JUN_21703547_ChIP-Seq_K562_Human0.83218146
111SOX9_26525672_Chip-Seq_HEART_Mouse0.82833421
112KDM2B_26808549_Chip-Seq_REH_Human0.80905104
113KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.79808762
114CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.79756314
115OCT4_19829295_ChIP-Seq_ESCs_Human0.78241734

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.02277463
2MP0003880_abnormal_central_pattern4.82670486
3* MP0003635_abnormal_synaptic_transmissio4.21673881
4MP0004270_analgesia4.06787105
5* MP0002063_abnormal_learning/memory/cond3.42247404
6MP0009745_abnormal_behavioral_response3.34795479
7MP0005423_abnormal_somatic_nervous3.29177587
8MP0002064_seizures3.09985852
9MP0002572_abnormal_emotion/affect_behav2.78334332
10MP0009046_muscle_twitch2.75423549
11MP0001968_abnormal_touch/_nociception2.74715835
12MP0002734_abnormal_mechanical_nocicepti2.72141594
13MP0001486_abnormal_startle_reflex2.69242247
14MP0002822_catalepsy2.51008049
15MP0002272_abnormal_nervous_system2.46485668
16MP0000778_abnormal_nervous_system2.29100691
17MP0009780_abnormal_chondrocyte_physiolo2.16445122
18MP0001440_abnormal_grooming_behavior2.15688719
19MP0003329_amyloid_beta_deposits2.13005602
20MP0002735_abnormal_chemical_nociception2.10250995
21MP0001501_abnormal_sleep_pattern2.07448046
22MP0002733_abnormal_thermal_nociception2.04376274
23MP0002736_abnormal_nociception_after2.02176565
24MP0001970_abnormal_pain_threshold1.92564642
25MP0004811_abnormal_neuron_physiology1.89846736
26MP0002184_abnormal_innervation1.85794909
27MP0002067_abnormal_sensory_capabilities1.84972813
28MP0008569_lethality_at_weaning1.84669086
29MP0004885_abnormal_endolymph1.79604100
30MP0002557_abnormal_social/conspecific_i1.79579681
31MP0004858_abnormal_nervous_system1.78247653
32MP0004924_abnormal_behavior1.72830536
33MP0005386_behavior/neurological_phenoty1.72830536
34MP0000955_abnormal_spinal_cord1.69594437
35MP0002909_abnormal_adrenal_gland1.58252295
36MP0002882_abnormal_neuron_morphology1.53886723
37MP0000569_abnormal_digit_pigmentation1.48511258
38MP0002066_abnormal_motor_capabilities/c1.46413386
39MP0006276_abnormal_autonomic_nervous1.45933966
40MP0003879_abnormal_hair_cell1.42124259
41MP0001905_abnormal_dopamine_level1.33599147
42MP0005646_abnormal_pituitary_gland1.33501599
43MP0001984_abnormal_olfaction1.31771831
44MP0003633_abnormal_nervous_system1.31190347
45MP0003123_paternal_imprinting1.29358532
46MP0001529_abnormal_vocalization1.29244822
47MP0003787_abnormal_imprinting1.28066297
48MP0005645_abnormal_hypothalamus_physiol1.25290248
49MP0002152_abnormal_brain_morphology1.24590599
50MP0001502_abnormal_circadian_rhythm1.18999052
51MP0004142_abnormal_muscle_tone1.16502871
52MP0003631_nervous_system_phenotype1.16433431
53MP0000920_abnormal_myelination1.15683634
54MP0004742_abnormal_vestibular_system1.04797301
55MP0003634_abnormal_glial_cell1.03105524
56MP0002229_neurodegeneration1.01660847
57MP0003690_abnormal_glial_cell1.01652053
58MP0001177_atelectasis0.99282952
59MP0005551_abnormal_eye_electrophysiolog0.98423515
60MP0001188_hyperpigmentation0.97600568
61MP0008877_abnormal_DNA_methylation0.97463026
62MP0000604_amyloidosis0.95847313
63MP0002069_abnormal_eating/drinking_beha0.95292032
64MP0003121_genomic_imprinting0.94995326
65MP0003632_abnormal_nervous_system0.92396703
66MP0000751_myopathy0.86767776
67MP0005409_darkened_coat_color0.85542012
68MP0000631_abnormal_neuroendocrine_gland0.84776594
69MP0001963_abnormal_hearing_physiology0.83947492
70MP0004147_increased_porphyrin_level0.83663616
71MP0003122_maternal_imprinting0.83551887
72MP0003075_altered_response_to0.83163342
73MP0002752_abnormal_somatic_nervous0.83132018
74MP0005394_taste/olfaction_phenotype0.82267167
75MP0005499_abnormal_olfactory_system0.82267167
76MP0003283_abnormal_digestive_organ0.82220910
77MP0008874_decreased_physiological_sensi0.80993822
78MP0008872_abnormal_physiological_respon0.80045450
79MP0010386_abnormal_urinary_bladder0.79564033
80MP0002653_abnormal_ependyma_morphology0.79519018
81MP0008961_abnormal_basal_metabolism0.78504806
82MP0004085_abnormal_heartbeat0.77667324
83MP0002090_abnormal_vision0.76441730
84MP0003861_abnormal_nervous_system0.75631650
85MP0004145_abnormal_muscle_electrophysio0.75166225
86MP0000026_abnormal_inner_ear0.74755676
87MP0005535_abnormal_body_temperature0.73052060
88MP0001346_abnormal_lacrimal_gland0.72669624
89MP0001986_abnormal_taste_sensitivity0.72307081
90MP0001485_abnormal_pinna_reflex0.69619814
91MP0003137_abnormal_impulse_conducting0.68705415
92MP0005623_abnormal_meninges_morphology0.66986454
93MP0001299_abnormal_eye_distance/0.65369987
94MP0004130_abnormal_muscle_cell0.65355539
95MP0005187_abnormal_penis_morphology0.64410520
96MP0003938_abnormal_ear_development0.64178981
97MP0006292_abnormal_olfactory_placode0.62279076
98MP0003172_abnormal_lysosome_physiology0.60511182
99MP0001664_abnormal_digestion0.58405172
100MP0005167_abnormal_blood-brain_barrier0.58333369
101MP0001348_abnormal_lacrimal_gland0.58229140
102MP0004510_myositis0.57618571
103MP0000579_abnormal_nail_morphology0.56795671
104MP0010769_abnormal_survival0.56619448
105MP0002638_abnormal_pupillary_reflex0.56098818
106MP0001943_abnormal_respiration0.55564026
107MP0010768_mortality/aging0.55513243
108MP0004233_abnormal_muscle_weight0.55425563
109MP0002234_abnormal_pharynx_morphology0.54576834
110MP0002082_postnatal_lethality0.54387571
111MP0010770_preweaning_lethality0.54387571
112MP0004484_altered_response_of0.53873749
113MP0003136_yellow_coat_color0.53776880
114MP0004215_abnormal_myocardial_fiber0.53667672
115MP0004133_heterotaxia0.52116078
116MP0000566_synostosis0.51134919

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.99594274
2Myokymia (HP:0002411)6.91586253
3Focal seizures (HP:0007359)5.39976691
4Visual hallucinations (HP:0002367)4.97891753
5Epileptic encephalopathy (HP:0200134)4.72814799
6Supranuclear gaze palsy (HP:0000605)4.34213541
7Progressive cerebellar ataxia (HP:0002073)3.95900586
8Ankle clonus (HP:0011448)3.93581266
9Atonic seizures (HP:0010819)3.77015196
10Mutism (HP:0002300)3.76042479
11Febrile seizures (HP:0002373)3.71384789
12Broad-based gait (HP:0002136)3.70031744
13Neurofibrillary tangles (HP:0002185)3.66626584
14Absence seizures (HP:0002121)3.65343553
15Papilledema (HP:0001085)3.58311195
16Generalized tonic-clonic seizures (HP:0002069)3.56096815
17Action tremor (HP:0002345)3.54364925
18Poor eye contact (HP:0000817)3.53250010
19Cerebral inclusion bodies (HP:0100314)3.42180705
20Dialeptic seizures (HP:0011146)3.38016946
21Impaired vibration sensation in the lower limbs (HP:0002166)3.36270036
22Urinary bladder sphincter dysfunction (HP:0002839)3.29181244
23Impaired social interactions (HP:0000735)3.18188571
24Abnormal social behavior (HP:0012433)3.18188571
25Abnormality of the corticospinal tract (HP:0002492)3.15789222
26Dysmetria (HP:0001310)3.12314362
27Hyperventilation (HP:0002883)3.11281281
28Depression (HP:0000716)3.10474862
29Drooling (HP:0002307)3.05034199
30Excessive salivation (HP:0003781)3.05034199
31Dysdiadochokinesis (HP:0002075)3.00904010
32Urinary urgency (HP:0000012)2.99830574
33Spastic gait (HP:0002064)2.98746141
34Gaze-evoked nystagmus (HP:0000640)2.95638473
35Postural instability (HP:0002172)2.91955714
36Abnormal eating behavior (HP:0100738)2.87368128
37Megalencephaly (HP:0001355)2.85322623
38Amblyopia (HP:0000646)2.85290015
39Hemiparesis (HP:0001269)2.84914525
40Anxiety (HP:0000739)2.83208913
41Truncal ataxia (HP:0002078)2.80529782
42Termporal pattern (HP:0011008)2.76698391
43Insidious onset (HP:0003587)2.76698391
44Genetic anticipation (HP:0003743)2.76027062
45Torticollis (HP:0000473)2.74965932
46Intention tremor (HP:0002080)2.74608194
47Cerebral hypomyelination (HP:0006808)2.71913905
48Progressive inability to walk (HP:0002505)2.71307894
49Abnormality of binocular vision (HP:0011514)2.68739674
50Diplopia (HP:0000651)2.68739674
51Amyotrophic lateral sclerosis (HP:0007354)2.63642100
52Abnormality of the lower motor neuron (HP:0002366)2.57778706
53Tetraplegia (HP:0002445)2.57485118
54Focal dystonia (HP:0004373)2.52795254
55Limb dystonia (HP:0002451)2.52477323
56Stereotypic behavior (HP:0000733)2.51841622
57Epileptiform EEG discharges (HP:0011182)2.50003129
58Lower limb muscle weakness (HP:0007340)2.48328028
59EEG with generalized epileptiform discharges (HP:0011198)2.43372853
60Absent speech (HP:0001344)2.41521762
61Obstructive sleep apnea (HP:0002870)2.40673684
62Impaired smooth pursuit (HP:0007772)2.37995025
63Scanning speech (HP:0002168)2.37885765
64Bradykinesia (HP:0002067)2.37366723
65Hypsarrhythmia (HP:0002521)2.34038148
66Spastic tetraparesis (HP:0001285)2.32653757
67Polyphagia (HP:0002591)2.30528435
68Degeneration of the lateral corticospinal tracts (HP:0002314)2.28359772
69Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.28359772
70Akinesia (HP:0002304)2.28267722
71Insomnia (HP:0100785)2.27010897
72Hemiplegia (HP:0002301)2.25372112
73Inappropriate behavior (HP:0000719)2.25335390
74Craniofacial dystonia (HP:0012179)2.24674726
75Generalized myoclonic seizures (HP:0002123)2.23399648
76Apathy (HP:0000741)2.19209784
77Split foot (HP:0001839)2.17230619
78Impaired vibratory sensation (HP:0002495)2.16437964
79Inability to walk (HP:0002540)2.14874857
80Fetal akinesia sequence (HP:0001989)2.14784274
81Clonus (HP:0002169)2.10150881
82Abnormality of ocular smooth pursuit (HP:0000617)2.08406839
83Agitation (HP:0000713)2.07361217
84Increased circulating renin level (HP:0000848)2.06991822
85Neuronal loss in central nervous system (HP:0002529)2.04077797
86Abnormality of salivation (HP:0100755)2.03878204
87Aplasia involving bones of the upper limbs (HP:0009823)1.99731038
88Aplasia of the phalanges of the hand (HP:0009802)1.99731038
89Aplasia involving bones of the extremities (HP:0009825)1.99731038
90Pointed chin (HP:0000307)1.98881786
91Lower limb amyotrophy (HP:0007210)1.95190067
92Status epilepticus (HP:0002133)1.94155678
93Morphological abnormality of the pyramidal tract (HP:0002062)1.92527459
94Ventricular fibrillation (HP:0001663)1.90254469
95Bronchomalacia (HP:0002780)1.89715732
96Diminished motivation (HP:0000745)1.88620521
97Hypoplasia of the brainstem (HP:0002365)1.86601469
98Aplasia/Hypoplasia of the brainstem (HP:0007362)1.86601469
99Aqueductal stenosis (HP:0002410)1.85215711
100Pheochromocytoma (HP:0002666)1.83842715
101Choreoathetosis (HP:0001266)1.83824246
102Gait ataxia (HP:0002066)1.83011243
103Blue irides (HP:0000635)1.82607452
104Delusions (HP:0000746)1.82567514
105Annular pancreas (HP:0001734)1.82004124
106Incomplete penetrance (HP:0003829)1.80563555
107CNS hypomyelination (HP:0003429)1.78947003
108Sleep apnea (HP:0010535)1.78418027
109Peripheral hypomyelination (HP:0007182)1.78306424
110Rapidly progressive (HP:0003678)1.78264701
111Hypoplasia of the corpus callosum (HP:0002079)1.76498809
112Turricephaly (HP:0000262)1.76117815
113Rigidity (HP:0002063)1.74225885
114Spastic tetraplegia (HP:0002510)1.68601413
115Thickened helices (HP:0000391)1.68128237
116Lower limb asymmetry (HP:0100559)1.67311687

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.78480376
2EPHA44.16299097
3MAP3K94.00826353
4NTRK33.92685772
5MAP3K42.76820689
6MINK12.71175261
7PAK62.49872811
8DAPK22.44358034
9NTRK22.35648460
10MAP2K72.24683177
11PRKD32.12192736
12KSR21.93455770
13NTRK11.79935478
14SIK21.70399242
15CAMKK11.70308898
16KSR11.70042345
17CDK51.65560055
18MAP2K41.59446365
19TNIK1.56637877
20MAPK131.55627991
21CASK1.53488521
22TYRO31.45227202
23PHKG11.44388747
24PHKG21.44388747
25PNCK1.42112490
26RIPK41.38063158
27DAPK11.35169785
28CDK191.34997279
29PRPF4B1.33573941
30UHMK11.31168031
31PLK21.28427434
32MAP3K121.19841583
33GRK51.17127001
34RIPK11.13530542
35PRKCG1.11541146
36STK381.11319349
37LATS21.10273635
38FES1.07803566
39MAP3K20.98714819
40CDK180.98316591
41ARAF0.97781500
42CSNK1G20.97632073
43CDK150.97576459
44STK110.94882983
45MARK20.93885479
46OXSR10.93862998
47CDK140.93255169
48TAOK10.92087588
49CAMK2A0.91731206
50PAK30.88328698
51CAMK10.86107762
52CDK11A0.85735390
53DYRK1A0.82555194
54RET0.81511598
55CAMK2B0.79945903
56PRKCH0.79784076
57ALK0.79688673
58SGK4940.75636345
59SGK2230.75636345
60MAP3K130.75527835
61RAF10.75362988
62PKN10.74126495
63TNK20.72926746
64DYRK20.71860399
65FGFR20.70106077
66CAMK40.70079009
67BRSK10.68564223
68PRKCZ0.63489907
69SGK10.62728793
70CAMK1G0.61576012
71FRK0.57984848
72PDK10.57383964
73FYN0.56977575
74PTK2B0.56810100
75CAMK1D0.56636189
76PINK10.54534722
77PDPK10.53903573
78FGR0.52722868
79STK390.52280380
80NEK60.52138495
81ERBB20.51839076
82CAMKK20.51776906
83ICK0.50179857
84PRKCE0.49748568
85MAP3K60.48055473
86BMPR20.48047532
87ERBB30.47306009
88RPS6KA30.47230416
89LMTK20.46724459
90BCR0.45574652
91CSNK1G30.44609981
92MAPK100.43943566
93DMPK0.43785961
94WNK10.43289301
95CSNK1A1L0.43238878
96MAP3K70.42361687
97CDC42BPA0.41264053
98MAPK120.39518571
99SGK30.38826436
100CAMK2D0.37826228
101ROCK20.37269658
102WNK30.36972969
103SGK20.35895242
104ROCK10.35594893
105NME10.35323468
106CSNK1D0.34842367
107RPS6KA20.34797769
108CAMK2G0.34536007
109DAPK30.34450957
110MAP3K10.34347627
111PRKG10.33679073
112BRAF0.33285026
113PRKCA0.32124118
114MAPK80.31202926
115GSK3B0.29077599
116PRKCB0.28658850
117PRKACA0.27251806
118RPS6KB10.27071838
119CSNK1E0.26332666
120CSNK1A10.24606246

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.55250224
2Synaptic vesicle cycle_Homo sapiens_hsa047213.06087040
3GABAergic synapse_Homo sapiens_hsa047272.71618286
4Circadian entrainment_Homo sapiens_hsa047132.69718408
5Glutamatergic synapse_Homo sapiens_hsa047242.65929671
6Olfactory transduction_Homo sapiens_hsa047402.64929824
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.60203805
8Long-term potentiation_Homo sapiens_hsa047202.57059779
9Morphine addiction_Homo sapiens_hsa050322.47002106
10Amphetamine addiction_Homo sapiens_hsa050312.34297529
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.20279280
12Dopaminergic synapse_Homo sapiens_hsa047282.19412398
13Salivary secretion_Homo sapiens_hsa049702.12729575
14Cholinergic synapse_Homo sapiens_hsa047251.97087799
15Insulin secretion_Homo sapiens_hsa049111.92233116
16Gastric acid secretion_Homo sapiens_hsa049711.88137230
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.80612415
18Long-term depression_Homo sapiens_hsa047301.71986569
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.69899729
20Oxytocin signaling pathway_Homo sapiens_hsa049211.66578857
21Cocaine addiction_Homo sapiens_hsa050301.66113974
22Serotonergic synapse_Homo sapiens_hsa047261.63990188
23Renin secretion_Homo sapiens_hsa049241.62745719
24Taste transduction_Homo sapiens_hsa047421.55507967
25Axon guidance_Homo sapiens_hsa043601.53041779
26Calcium signaling pathway_Homo sapiens_hsa040201.47813614
27GnRH signaling pathway_Homo sapiens_hsa049121.45285577
28Gap junction_Homo sapiens_hsa045401.44338012
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.43068918
30Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.37748540
31Vitamin B6 metabolism_Homo sapiens_hsa007501.33121581
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.31235208
33cAMP signaling pathway_Homo sapiens_hsa040241.26644553
34Glioma_Homo sapiens_hsa052141.23442994
35Type II diabetes mellitus_Homo sapiens_hsa049301.19322364
36ErbB signaling pathway_Homo sapiens_hsa040121.18367351
37Estrogen signaling pathway_Homo sapiens_hsa049151.17856976
38Nitrogen metabolism_Homo sapiens_hsa009101.16186515
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.13932481
40Melanogenesis_Homo sapiens_hsa049161.10483736
41Phosphatidylinositol signaling system_Homo sapiens_hsa040701.05826076
42Collecting duct acid secretion_Homo sapiens_hsa049661.04816773
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.01357876
44Phototransduction_Homo sapiens_hsa047440.96249354
45Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.95114827
46Phospholipase D signaling pathway_Homo sapiens_hsa040720.94602772
47Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.93747438
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.90470736
49Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.86961187
50Oocyte meiosis_Homo sapiens_hsa041140.86416426
51Dorso-ventral axis formation_Homo sapiens_hsa043200.86081154
52Choline metabolism in cancer_Homo sapiens_hsa052310.83757911
53Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.81778405
54Pancreatic secretion_Homo sapiens_hsa049720.80908001
55Cardiac muscle contraction_Homo sapiens_hsa042600.79864002
56VEGF signaling pathway_Homo sapiens_hsa043700.76523884
57Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.75797420
58MAPK signaling pathway_Homo sapiens_hsa040100.73813469
59Vibrio cholerae infection_Homo sapiens_hsa051100.71782246
60Thyroid hormone synthesis_Homo sapiens_hsa049180.71635847
61Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.69809295
62Ras signaling pathway_Homo sapiens_hsa040140.69736550
63Sphingolipid signaling pathway_Homo sapiens_hsa040710.69607867
64Dilated cardiomyopathy_Homo sapiens_hsa054140.69415203
65Neurotrophin signaling pathway_Homo sapiens_hsa047220.68771955
66Renal cell carcinoma_Homo sapiens_hsa052110.65913853
67Carbohydrate digestion and absorption_Homo sapiens_hsa049730.65209668
68Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.64734958
69Rap1 signaling pathway_Homo sapiens_hsa040150.62430982
70Endocytosis_Homo sapiens_hsa041440.60187669
71Endometrial cancer_Homo sapiens_hsa052130.58840378
72Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.57016640
73Thyroid hormone signaling pathway_Homo sapiens_hsa049190.56336107
74Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.55855043
75Alcoholism_Homo sapiens_hsa050340.54245648
76mTOR signaling pathway_Homo sapiens_hsa041500.53619526
77Wnt signaling pathway_Homo sapiens_hsa043100.53195256
78Histidine metabolism_Homo sapiens_hsa003400.52487715
79Non-small cell lung cancer_Homo sapiens_hsa052230.50515543
80Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.48831235
81Bile secretion_Homo sapiens_hsa049760.47228864
82Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.46769291
83Glucagon signaling pathway_Homo sapiens_hsa049220.46759265
84Prion diseases_Homo sapiens_hsa050200.46125348
85Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.45798818
86beta-Alanine metabolism_Homo sapiens_hsa004100.44873223
87Longevity regulating pathway - mammal_Homo sapiens_hsa042110.44731401
88Inositol phosphate metabolism_Homo sapiens_hsa005620.42676662
89Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.42618230
90Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.41751383
91Type I diabetes mellitus_Homo sapiens_hsa049400.41541654
92Colorectal cancer_Homo sapiens_hsa052100.41518793
93Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.40872516
94Hippo signaling pathway_Homo sapiens_hsa043900.40730050
95Arginine and proline metabolism_Homo sapiens_hsa003300.40105749
96Chemokine signaling pathway_Homo sapiens_hsa040620.39543641
97Ovarian steroidogenesis_Homo sapiens_hsa049130.38603284
98Insulin signaling pathway_Homo sapiens_hsa049100.37845530
99* Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.37685752
100Circadian rhythm_Homo sapiens_hsa047100.34884866
101Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.33791416
102Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.32773606
103African trypanosomiasis_Homo sapiens_hsa051430.31070685
104Tight junction_Homo sapiens_hsa045300.30526896
105Regulation of actin cytoskeleton_Homo sapiens_hsa048100.30506721
106Arginine biosynthesis_Homo sapiens_hsa002200.29734719
107Fatty acid biosynthesis_Homo sapiens_hsa000610.29547566
108SNARE interactions in vesicular transport_Homo sapiens_hsa041300.28913620
109Butanoate metabolism_Homo sapiens_hsa006500.27770821
110Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.24248052
111AMPK signaling pathway_Homo sapiens_hsa041520.23129603
112ABC transporters_Homo sapiens_hsa020100.22049322

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