IDS

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





Description: This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease mucopolysaccharidosis type II, also known as Hunter syndrome. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.22081479
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.89208392
3locomotory exploration behavior (GO:0035641)5.75146926
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.64284591
5synaptic vesicle exocytosis (GO:0016079)5.15929832
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.11256645
7glutamate secretion (GO:0014047)4.99831946
8regulation of synaptic vesicle exocytosis (GO:2000300)4.97350553
9vocalization behavior (GO:0071625)4.95134876
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.64221764
11layer formation in cerebral cortex (GO:0021819)4.62404407
12L-amino acid import (GO:0043092)4.60591538
13cerebellar granule cell differentiation (GO:0021707)4.48159770
14regulation of glutamate receptor signaling pathway (GO:1900449)4.45377981
15synaptic vesicle docking involved in exocytosis (GO:0016081)4.44753244
16exploration behavior (GO:0035640)4.41996944
17regulation of synaptic vesicle transport (GO:1902803)4.40069788
18protein localization to synapse (GO:0035418)4.24703319
19neurotransmitter secretion (GO:0007269)4.20874141
20regulation of long-term neuronal synaptic plasticity (GO:0048169)4.20268298
21neuron cell-cell adhesion (GO:0007158)4.20042338
22regulation of neuronal synaptic plasticity (GO:0048168)4.17971551
23dendritic spine morphogenesis (GO:0060997)4.16364806
24regulation of synapse structural plasticity (GO:0051823)4.12341116
25proline transport (GO:0015824)4.04653360
26amino acid import (GO:0043090)4.04086618
27ionotropic glutamate receptor signaling pathway (GO:0035235)4.03017463
28neuronal action potential propagation (GO:0019227)4.02367859
29potassium ion homeostasis (GO:0055075)3.93488907
30potassium ion import (GO:0010107)3.87592908
31activation of protein kinase A activity (GO:0034199)3.81621166
32negative regulation of synaptic transmission, GABAergic (GO:0032229)3.73550932
33gamma-aminobutyric acid transport (GO:0015812)3.72235874
34regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.65674499
35regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.64279031
36cellular potassium ion homeostasis (GO:0030007)3.62975951
37synaptic transmission, glutamatergic (GO:0035249)3.61146805
38long-term memory (GO:0007616)3.56410946
39negative regulation of dendrite morphogenesis (GO:0050774)3.54646128
40regulation of voltage-gated calcium channel activity (GO:1901385)3.53124950
41positive regulation of membrane potential (GO:0045838)3.50131925
42dendrite morphogenesis (GO:0048813)3.48956241
43glutamate receptor signaling pathway (GO:0007215)3.47724149
44neurotransmitter-gated ion channel clustering (GO:0072578)3.47299471
45membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.46990633
46neuron recognition (GO:0008038)3.46612767
47neuron-neuron synaptic transmission (GO:0007270)3.42683417
48neurotransmitter transport (GO:0006836)3.41598588
49sodium ion export (GO:0071436)3.41257013
50positive regulation of synaptic transmission, GABAergic (GO:0032230)3.39888887
51cellular sodium ion homeostasis (GO:0006883)3.37862801
52regulation of excitatory postsynaptic membrane potential (GO:0060079)3.35152297
53neuromuscular process controlling balance (GO:0050885)3.33190088
54vesicle transport along microtubule (GO:0047496)3.32360487
55glycine transport (GO:0015816)3.27916327
56regulation of dendritic spine morphogenesis (GO:0061001)3.25177862
57regulation of synaptic plasticity (GO:0048167)3.24753831
58auditory behavior (GO:0031223)3.24026363
59axonal fasciculation (GO:0007413)3.22906912
60regulation of ARF protein signal transduction (GO:0032012)3.21020970
61regulation of neurotransmitter secretion (GO:0046928)3.20022235
62regulation of postsynaptic membrane potential (GO:0060078)3.19729290
63central nervous system myelination (GO:0022010)3.18738207
64axon ensheathment in central nervous system (GO:0032291)3.18738207
65response to auditory stimulus (GO:0010996)3.18391240
66transmission of nerve impulse (GO:0019226)3.18010948
67regulation of vesicle fusion (GO:0031338)3.17680415
68positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.15198320
69synaptic vesicle endocytosis (GO:0048488)3.14691120
70regulation of neurotransmitter levels (GO:0001505)3.11990252
71cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.10742549
72regulation of synapse maturation (GO:0090128)3.08676470
73regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.07152046
74organelle transport along microtubule (GO:0072384)3.05651243
75cerebellar Purkinje cell layer development (GO:0021680)3.04799957
76regulation of exocytosis (GO:0017157)3.03028071
77positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.02187165
78long-term synaptic potentiation (GO:0060291)3.00762044
79innervation (GO:0060384)2.99277904
80cell communication by electrical coupling (GO:0010644)2.99063766
81regulation of synaptic transmission (GO:0050804)2.98325397
82neuronal ion channel clustering (GO:0045161)2.98215251
83vesicle docking involved in exocytosis (GO:0006904)2.98156330
84neurotransmitter uptake (GO:0001504)2.97955552
85regulation of synaptic transmission, glutamatergic (GO:0051966)2.97872158
86cerebellar Purkinje cell differentiation (GO:0021702)2.96178338
87acidic amino acid transport (GO:0015800)2.96140513
88postsynaptic membrane organization (GO:0001941)2.94832465
89positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.94793506
90regulation of neurotransmitter transport (GO:0051588)2.93961650
91G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.93848001
92regulation of calcium ion-dependent exocytosis (GO:0017158)2.93393069
93prepulse inhibition (GO:0060134)2.93283069
94neuromuscular process controlling posture (GO:0050884)2.93010202
95positive regulation of synapse maturation (GO:0090129)2.92873920
96gamma-aminobutyric acid signaling pathway (GO:0007214)2.90858790
97dendritic spine organization (GO:0097061)2.90047310
98regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.89852395
99synapse assembly (GO:0007416)2.89703289
100cell communication involved in cardiac conduction (GO:0086065)2.86091738
101synaptic transmission (GO:0007268)2.86027961
102cytoskeletal anchoring at plasma membrane (GO:0007016)2.85529558
103membrane depolarization during action potential (GO:0086010)2.84509775
104membrane depolarization (GO:0051899)2.80701915
105social behavior (GO:0035176)2.80388858
106intraspecies interaction between organisms (GO:0051703)2.80388858
107signal release (GO:0023061)2.80169635
108establishment of synaptic vesicle localization (GO:0097480)2.79696044
109synaptic vesicle transport (GO:0048489)2.79696044
110mating behavior (GO:0007617)2.79420372
111regulation of dendritic spine development (GO:0060998)2.78210961
112chemosensory behavior (GO:0007635)2.78210729
113detection of calcium ion (GO:0005513)2.78022649
114positive regulation of dendritic spine development (GO:0060999)2.77878049
115negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.77611622
116axon cargo transport (GO:0008088)2.77471754
117positive regulation of neurotransmitter secretion (GO:0001956)2.77264813
118positive regulation of Rap GTPase activity (GO:0032854)2.76989787
119cell differentiation in hindbrain (GO:0021533)2.76947085
120learning (GO:0007612)2.74375935
121positive regulation of synaptic transmission (GO:0050806)2.74335947
122cell migration in hindbrain (GO:0021535)2.73931950
123clathrin coat assembly (GO:0048268)2.73679772
124synapse organization (GO:0050808)2.73618474
125neuromuscular process (GO:0050905)2.73611656
126positive regulation of neurotransmitter transport (GO:0051590)2.73390456
127membrane hyperpolarization (GO:0060081)2.73314650
128vesicle docking (GO:0048278)2.72980147
129presynaptic membrane organization (GO:0097090)2.72092602

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.40016009
2GBX2_23144817_ChIP-Seq_PC3_Human3.03938147
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.98324462
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.88027759
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.84301298
6REST_21632747_ChIP-Seq_MESCs_Mouse2.63066997
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.57692789
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.57692789
9SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.50920570
10RARB_27405468_Chip-Seq_BRAIN_Mouse2.50663462
11DROSHA_22980978_ChIP-Seq_HELA_Human2.47988026
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.47907220
13JARID2_20075857_ChIP-Seq_MESCs_Mouse2.47553562
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.46032899
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.41473259
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.36614436
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.33974791
18THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.22160396
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.18716943
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.16696394
21REST_18959480_ChIP-ChIP_MESCs_Mouse2.14070657
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.10153243
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.07216832
24NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.92835242
25ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.88590597
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.87958673
27AR_21572438_ChIP-Seq_LNCaP_Human1.87360783
28EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.84175601
29CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.82060294
30IKZF1_21737484_ChIP-ChIP_HCT116_Human1.81995680
31MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.81008135
32CTBP2_25329375_ChIP-Seq_LNCAP_Human1.59053756
33SMAD4_21799915_ChIP-Seq_A2780_Human1.54714432
34RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.54621194
35ERG_21242973_ChIP-ChIP_JURKAT_Human1.46760695
36NR3C1_23031785_ChIP-Seq_PC12_Mouse1.46220048
37SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.46016878
38CTBP1_25329375_ChIP-Seq_LNCAP_Human1.39192157
39ZNF274_21170338_ChIP-Seq_K562_Hela1.38972538
40TAF15_26573619_Chip-Seq_HEK293_Human1.37909731
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.36572452
42SOX2_21211035_ChIP-Seq_LN229_Gbm1.34411245
43CDX2_19796622_ChIP-Seq_MESCs_Mouse1.27775824
44RING1B_27294783_Chip-Seq_ESCs_Mouse1.27655648
45ZNF217_24962896_ChIP-Seq_MCF-7_Human1.27275508
46WT1_25993318_ChIP-Seq_PODOCYTE_Human1.27070979
47* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.26185851
48RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.25429444
49AR_19668381_ChIP-Seq_PC3_Human1.23062795
50TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.22641399
51SMAD_19615063_ChIP-ChIP_OVARY_Human1.22464172
52* STAT3_23295773_ChIP-Seq_U87_Human1.22019172
53WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.21874627
54KDM2B_26808549_Chip-Seq_K562_Human1.21786195
55OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.21244489
56DNAJC2_21179169_ChIP-ChIP_NT2_Human1.19211649
57KDM2B_26808549_Chip-Seq_SUP-B15_Human1.18312944
58SMAD3_21741376_ChIP-Seq_EPCs_Human1.17513685
59SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.17036729
60AR_25329375_ChIP-Seq_VCAP_Human1.16992537
61* P300_19829295_ChIP-Seq_ESCs_Human1.16795716
62ZFP57_27257070_Chip-Seq_ESCs_Mouse1.16416858
63TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.15828215
64IGF1R_20145208_ChIP-Seq_DFB_Human1.15518729
65PIAS1_25552417_ChIP-Seq_VCAP_Human1.15115680
66SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.14351991
67PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.14039007
68CTNNB1_20460455_ChIP-Seq_HCT116_Human1.13659120
69RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.12096938
70RING1B_27294783_Chip-Seq_NPCs_Mouse1.11131337
71ARNT_22903824_ChIP-Seq_MCF-7_Human1.10316722
72TOP2B_26459242_ChIP-Seq_MCF-7_Human1.10180172
73ZFP281_18757296_ChIP-ChIP_E14_Mouse1.09368556
74AHR_22903824_ChIP-Seq_MCF-7_Human1.09040754
75YAP1_20516196_ChIP-Seq_MESCs_Mouse1.07935751
76EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.07846529
77AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.06443652
78P53_22127205_ChIP-Seq_FIBROBLAST_Human1.05903723
79PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.05144171
80TCF4_23295773_ChIP-Seq_U87_Human1.02411357
81TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02115236
82SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.01996749
83ESR2_21235772_ChIP-Seq_MCF-7_Human1.01815763
84SMAD4_21741376_ChIP-Seq_HESCs_Human0.99285989
85SMAD3_21741376_ChIP-Seq_ESCs_Human0.96834992
86VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.96451615
87ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.95781473
88CBX2_27304074_Chip-Seq_ESCs_Mouse0.95621219
89NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95506721
90MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.93610230
91* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93464426
92RXR_22108803_ChIP-Seq_LS180_Human0.92640023
93RUNX2_22187159_ChIP-Seq_PCA_Human0.92107789
94SMAD3_21741376_ChIP-Seq_HESCs_Human0.91065420
95BMI1_23680149_ChIP-Seq_NPCS_Mouse0.90835017
96TP53_16413492_ChIP-PET_HCT116_Human0.89046207
97RNF2_27304074_Chip-Seq_NSC_Mouse0.88225051
98TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87875671
99GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86153715
100TET1_21490601_ChIP-Seq_MESCs_Mouse0.86126955
101PRDM14_20953172_ChIP-Seq_ESCs_Human0.85305133
102EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.82949224
103ZFP281_27345836_Chip-Seq_ESCs_Mouse0.82398928
104CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.82383246
105* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.82362041
106POU3F2_20337985_ChIP-ChIP_501MEL_Human0.82103514
107DPY_21335234_ChIP-Seq_ESCs_Mouse0.81743239
108SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.81513733
109OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.80697193
110CTCF_27219007_Chip-Seq_Bcells_Human0.80681194
111KDM2B_26808549_Chip-Seq_DND41_Human0.80555088
112ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.80553993
113DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.80433013
114PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.78446493
115STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.75270786
116LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.73857387
117OCT4_19829295_ChIP-Seq_ESCs_Human0.73738317
118KDM2B_26808549_Chip-Seq_JURKAT_Human0.73215321
119LXR_22292898_ChIP-Seq_THP-1_Human0.71868260

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.43596541
2MP0003880_abnormal_central_pattern4.10046896
3MP0003635_abnormal_synaptic_transmissio4.06860655
4MP0004270_analgesia4.06044090
5MP0002063_abnormal_learning/memory/cond3.22280439
6MP0009745_abnormal_behavioral_response3.17029811
7MP0002064_seizures2.98749738
8MP0001968_abnormal_touch/_nociception2.84352453
9MP0005423_abnormal_somatic_nervous2.78814263
10MP0002734_abnormal_mechanical_nocicepti2.77392867
11MP0009046_muscle_twitch2.75856671
12MP0009780_abnormal_chondrocyte_physiolo2.69147881
13* MP0002572_abnormal_emotion/affect_behav2.61960873
14MP0002909_abnormal_adrenal_gland2.48733125
15MP0002822_catalepsy2.43398018
16MP0001486_abnormal_startle_reflex2.43267474
17MP0002272_abnormal_nervous_system2.37337496
18MP0002733_abnormal_thermal_nociception2.25318507
19MP0002735_abnormal_chemical_nociception2.12470842
20MP0001501_abnormal_sleep_pattern2.12137711
21MP0001970_abnormal_pain_threshold2.06867692
22MP0001440_abnormal_grooming_behavior2.04055859
23MP0003329_amyloid_beta_deposits2.00459368
24MP0004858_abnormal_nervous_system1.98338959
25MP0002736_abnormal_nociception_after1.94352401
26MP0008569_lethality_at_weaning1.85939812
27MP0004811_abnormal_neuron_physiology1.83354629
28MP0000778_abnormal_nervous_system1.82278697
29MP0002067_abnormal_sensory_capabilities1.80251926
30MP0002184_abnormal_innervation1.74321436
31MP0002557_abnormal_social/conspecific_i1.72998919
32MP0005386_behavior/neurological_phenoty1.72516539
33MP0004924_abnormal_behavior1.72516539
34MP0005646_abnormal_pituitary_gland1.67889581
35MP0000955_abnormal_spinal_cord1.64172783
36MP0004885_abnormal_endolymph1.60523632
37MP0006276_abnormal_autonomic_nervous1.55154800
38MP0005645_abnormal_hypothalamus_physiol1.54298773
39MP0003283_abnormal_digestive_organ1.51788961
40MP0000013_abnormal_adipose_tissue1.44959848
41MP0003633_abnormal_nervous_system1.44763717
42MP0003879_abnormal_hair_cell1.43985272
43* MP0002066_abnormal_motor_capabilities/c1.37490738
44* MP0002882_abnormal_neuron_morphology1.37183738
45MP0000569_abnormal_digit_pigmentation1.34656561
46MP0008961_abnormal_basal_metabolism1.32135204
47MP0003122_maternal_imprinting1.31107394
48MP0001984_abnormal_olfaction1.24971959
49MP0010386_abnormal_urinary_bladder1.21562242
50MP0003123_paternal_imprinting1.20327468
51MP0001502_abnormal_circadian_rhythm1.20108413
52MP0003787_abnormal_imprinting1.16317647
53MP0003631_nervous_system_phenotype1.14893555
54MP0001905_abnormal_dopamine_level1.05568412
55* MP0002152_abnormal_brain_morphology1.05522249
56MP0003634_abnormal_glial_cell1.04472117
57MP0003690_abnormal_glial_cell1.03982938
58MP0001529_abnormal_vocalization1.02106611
59MP0004142_abnormal_muscle_tone1.01193381
60MP0004043_abnormal_pH_regulation1.01007810
61MP0005535_abnormal_body_temperature0.97653894
62MP0000920_abnormal_myelination0.97064665
63MP0002229_neurodegeneration0.96802859
64MP0002069_abnormal_eating/drinking_beha0.96067112
65MP0001299_abnormal_eye_distance/0.92964226
66MP0000604_amyloidosis0.92743238
67MP0004145_abnormal_muscle_electrophysio0.91491030
68MP0001177_atelectasis0.90038023
69MP0003075_altered_response_to0.89863278
70MP0002837_dystrophic_cardiac_calcinosis0.89249868
71MP0003045_fibrosis0.86603754
72MP0003183_abnormal_peptide_metabolism0.85475917
73MP0004085_abnormal_heartbeat0.85144486
74MP0000631_abnormal_neuroendocrine_gland0.85060588
75MP0001986_abnormal_taste_sensitivity0.82902364
76MP0008874_decreased_physiological_sensi0.82050263
77MP0010234_abnormal_vibrissa_follicle0.81857522
78MP0000751_myopathy0.80593865
79MP0002090_abnormal_vision0.79680678
80MP0003632_abnormal_nervous_system0.78353885
81MP0008872_abnormal_physiological_respon0.76422390
82MP0004742_abnormal_vestibular_system0.75650132
83MP0001188_hyperpigmentation0.75150622
84MP0002638_abnormal_pupillary_reflex0.74658572
85MP0005166_decreased_susceptibility_to0.72344318
86MP0005167_abnormal_blood-brain_barrier0.71639059
87MP0005409_darkened_coat_color0.69910308
88MP0001348_abnormal_lacrimal_gland0.69763527
89MP0005187_abnormal_penis_morphology0.68778171
90MP0005551_abnormal_eye_electrophysiolog0.68116040
91MP0005623_abnormal_meninges_morphology0.67969989
92MP0001963_abnormal_hearing_physiology0.66329564
93MP0003303_peritoneal_inflammation0.65801657
94MP0004510_myositis0.63697218
95MP0003137_abnormal_impulse_conducting0.62892903
96MP0004130_abnormal_muscle_cell0.62308706
97MP0002752_abnormal_somatic_nervous0.62123165
98MP0001765_abnormal_ion_homeostasis0.61430993
99MP0002234_abnormal_pharynx_morphology0.60468569
100MP0001664_abnormal_digestion0.59273111
101MP0002693_abnormal_pancreas_physiology0.58911482
102MP0005394_taste/olfaction_phenotype0.57664228
103MP0005499_abnormal_olfactory_system0.57664228
104MP0008877_abnormal_DNA_methylation0.57177119
105MP0001944_abnormal_pancreas_morphology0.57068168
106MP0001485_abnormal_pinna_reflex0.56658922
107MP0004484_altered_response_of0.56232401
108MP0001943_abnormal_respiration0.55116633
109MP0004215_abnormal_myocardial_fiber0.55009180
110MP0000003_abnormal_adipose_tissue0.54606483
111MP0005388_respiratory_system_phenotype0.51654577
112MP0002133_abnormal_respiratory_system0.51654577
113MP0010769_abnormal_survival0.50727564
114MP0004147_increased_porphyrin_level0.50488413
115MP0010768_mortality/aging0.47185726
116MP0002082_postnatal_lethality0.46663503
117MP0010770_preweaning_lethality0.46663503
118MP0002876_abnormal_thyroid_physiology0.45336146
119* MP0003956_abnormal_body_size0.45281094
120MP0003121_genomic_imprinting0.42223412

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.37016738
2Myokymia (HP:0002411)6.23424632
3Visual hallucinations (HP:0002367)5.25072367
4Focal seizures (HP:0007359)5.16186679
5Supranuclear gaze palsy (HP:0000605)4.18379443
6Epileptic encephalopathy (HP:0200134)4.12621762
7Action tremor (HP:0002345)3.94159681
8Progressive cerebellar ataxia (HP:0002073)3.82568876
9Ankle clonus (HP:0011448)3.80531592
10Atonic seizures (HP:0010819)3.78882270
11Absence seizures (HP:0002121)3.70516429
12Generalized tonic-clonic seizures (HP:0002069)3.55356458
13Mutism (HP:0002300)3.54781810
14Febrile seizures (HP:0002373)3.37436152
15Dialeptic seizures (HP:0011146)3.37218905
16Depression (HP:0000716)3.33764427
17Neurofibrillary tangles (HP:0002185)3.31044399
18Tetraplegia (HP:0002445)3.26997228
19Poor eye contact (HP:0000817)3.26370708
20Broad-based gait (HP:0002136)3.21202840
21Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.10554098
22Agitation (HP:0000713)3.09815665
23Cerebral inclusion bodies (HP:0100314)3.09191732
24Urinary bladder sphincter dysfunction (HP:0002839)3.06742586
25Annular pancreas (HP:0001734)3.02409186
26Anxiety (HP:0000739)3.00879441
27Impaired vibration sensation in the lower limbs (HP:0002166)2.98814829
28Abnormal social behavior (HP:0012433)2.98278343
29Impaired social interactions (HP:0000735)2.98278343
30Postural instability (HP:0002172)2.94970900
31Truncal ataxia (HP:0002078)2.94886653
32Abnormal eating behavior (HP:0100738)2.90024418
33Dysmetria (HP:0001310)2.82605868
34Megalencephaly (HP:0001355)2.80141263
35Drooling (HP:0002307)2.79205167
36Excessive salivation (HP:0003781)2.79205167
37Genetic anticipation (HP:0003743)2.77741443
38Dysdiadochokinesis (HP:0002075)2.77726606
39Torticollis (HP:0000473)2.73468552
40Termporal pattern (HP:0011008)2.71833267
41Insidious onset (HP:0003587)2.71833267
42Gaze-evoked nystagmus (HP:0000640)2.70595204
43Urinary urgency (HP:0000012)2.70540040
44Spastic gait (HP:0002064)2.67165591
45Diplopia (HP:0000651)2.63601690
46Abnormality of binocular vision (HP:0011514)2.63601690
47Limb dystonia (HP:0002451)2.63355552
48Intention tremor (HP:0002080)2.62540510
49Progressive inability to walk (HP:0002505)2.59902181
50Hemiparesis (HP:0001269)2.59473149
51Pheochromocytoma (HP:0002666)2.56791891
52Abnormality of the corticospinal tract (HP:0002492)2.56377723
53Amblyopia (HP:0000646)2.55781399
54EEG with generalized epileptiform discharges (HP:0011198)2.53748003
55Epileptiform EEG discharges (HP:0011182)2.52668868
56Impaired smooth pursuit (HP:0007772)2.47713125
57Peripheral hypomyelination (HP:0007182)2.47450280
58Hypsarrhythmia (HP:0002521)2.47210452
59Delusions (HP:0000746)2.46748551
60Hyperventilation (HP:0002883)2.46459458
61Cerebral hypomyelination (HP:0006808)2.43327849
62Focal dystonia (HP:0004373)2.42551865
63Stereotypic behavior (HP:0000733)2.41488285
64Bradykinesia (HP:0002067)2.39794598
65Amyotrophic lateral sclerosis (HP:0007354)2.37677372
66Increased circulating renin level (HP:0000848)2.33784603
67Lower limb muscle weakness (HP:0007340)2.30330733
68Hemiplegia (HP:0002301)2.27682064
69Ventricular fibrillation (HP:0001663)2.26026534
70Scanning speech (HP:0002168)2.22126928
71Craniofacial dystonia (HP:0012179)2.20052890
72Polyphagia (HP:0002591)2.19839622
73Neuronal loss in central nervous system (HP:0002529)2.18906575
74Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.18153169
75Degeneration of the lateral corticospinal tracts (HP:0002314)2.18153169
76Insomnia (HP:0100785)2.16921932
77Abnormality of the lower motor neuron (HP:0002366)2.15642969
78Absent speech (HP:0001344)2.14632328
79Abnormality of ocular smooth pursuit (HP:0000617)2.13611615
80Clonus (HP:0002169)2.12388172
81Neuroendocrine neoplasm (HP:0100634)2.11967220
82Macroorchidism (HP:0000053)2.10071687
83Inappropriate behavior (HP:0000719)2.08847929
84Spastic tetraparesis (HP:0001285)2.08653602
85Abnormality of saccadic eye movements (HP:0000570)2.08027553
86Memory impairment (HP:0002354)2.04813275
87Ankyloglossia (HP:0010296)2.02406304
88Apathy (HP:0000741)2.00909979
89Lower limb asymmetry (HP:0100559)1.98877684
90Rapidly progressive (HP:0003678)1.97342007
91Postural tremor (HP:0002174)1.96860085
92Generalized myoclonic seizures (HP:0002123)1.96583460
93Akinesia (HP:0002304)1.96147766
94Fetal akinesia sequence (HP:0001989)1.95716771
95Slow saccadic eye movements (HP:0000514)1.95564084
96Spinal canal stenosis (HP:0003416)1.95004738
97Blue irides (HP:0000635)1.94156870
98Impaired vibratory sensation (HP:0002495)1.93175150
99Lower limb amyotrophy (HP:0007210)1.91531008
100Gait ataxia (HP:0002066)1.89465232
101Inability to walk (HP:0002540)1.89189181
102Hypercortisolism (HP:0001578)1.88602325
103Abnormality of salivation (HP:0100755)1.88301970
104Status epilepticus (HP:0002133)1.87942913
105Bundle branch block (HP:0011710)1.86677379
106Abnormality of calcium-phosphate metabolism (HP:0100530)1.86315448
107Rigidity (HP:0002063)1.85026889
108Resting tremor (HP:0002322)1.84936358
109Pointed chin (HP:0000307)1.84634771
110Choreoathetosis (HP:0001266)1.84069820
111Psychosis (HP:0000709)1.83921997
112Morphological abnormality of the pyramidal tract (HP:0002062)1.81906303
113Abnormal EKG (HP:0003115)1.81040299
114Failure to thrive in infancy (HP:0001531)1.79536067
115* Obstructive sleep apnea (HP:0002870)1.78845196
116Dysmetric saccades (HP:0000641)1.76525266
117Hypoventilation (HP:0002791)1.75309926
118Diminished motivation (HP:0000745)1.74661773
119Heterochromia iridis (HP:0001100)1.72732532
120Dementia (HP:0000726)1.71546397

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K94.26987433
2MARK14.15945882
3NTRK34.11475691
4EPHA43.38611582
5MAP3K42.75705852
6MINK12.65090797
7NTRK12.41559109
8PRKD32.41537585
9DAPK22.38150873
10KSR22.31245085
11PAK62.29442277
12NTRK22.19948357
13MAP2K72.17403296
14CAMKK11.96315729
15MAP3K21.82052603
16MAP2K41.72962269
17CDK51.58992549
18KSR11.57104760
19UHMK11.47719597
20MAP3K121.42368412
21RIPK41.35375507
22PNCK1.31800017
23PHKG21.29893368
24PHKG11.29893368
25GRK51.29761643
26SIK21.25417769
27CAMKK21.24456402
28MAPK131.24184585
29LATS21.21989863
30DAPK11.17460684
31RET1.17101991
32TYRO31.15708082
33STK381.14851527
34PRKCH1.08764960
35TNIK1.07326709
36PLK21.05668585
37PRKCG1.05097335
38TAOK11.03696303
39ARAF1.03433630
40PAK31.01703974
41SCYL20.99580091
42FES0.98622100
43MAPK120.97143972
44STK110.95912403
45CDK190.93325037
46CSNK1G20.92513969
47ALK0.89029630
48MAP3K130.88739396
49MAP3K10.86992109
50CAMK2A0.86225264
51CASK0.86184085
52CDK140.84849441
53SGK4940.84375424
54SGK2230.84375424
55MARK20.83854578
56CDK180.80997056
57CAMK1G0.80983448
58CAMK10.80057461
59CDK150.79766615
60PRPF4B0.78034996
61WNK30.77173716
62TNK20.76793552
63JAK10.68208020
64CDK11A0.67749322
65LMTK20.67346829
66OXSR10.66110061
67CAMK2B0.66083781
68SGK10.64624471
69PDPK10.63974510
70PDK10.63871501
71WNK10.63799517
72SGK30.62919550
73INSRR0.61921122
74RIPK10.61814993
75DYRK1A0.60529950
76CDC42BPA0.59553156
77FGFR20.58934467
78SGK20.58914466
79PINK10.58691984
80IRAK20.58169624
81TESK10.57613981
82PRKCE0.57495448
83ROCK20.56324238
84PRKCZ0.56040510
85RAF10.54614592
86JAK20.53572619
87FYN0.53447481
88MOS0.52774131
89HIPK20.50903204
90MAP3K110.50708565
91RPS6KA30.49216283
92PDGFRA0.48883846
93WNK40.47024290
94FER0.45817158
95RPS6KA20.45389123
96CAMK2D0.45189128
97MAPK100.45118615
98DMPK0.42508528
99LIMK10.42413183
100PTK2B0.40841689
101MAP2K10.40324629
102ERBB30.37428892
103BRSK10.36925455
104PKN10.36571960
105MAP2K60.36458818
106BMPR20.34045052
107BRAF0.33992178
108SYK0.33941811
109NEK60.33107018
110CAMK2G0.32671501
111FRK0.31552749
112CAMK40.31018978
113MAP3K60.30977441
114DAPK30.29415091
115SIK30.29332864
116SRC0.28271479
117FGFR30.27985944
118PRKCA0.27510146

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047212.98244488
2Nicotine addiction_Homo sapiens_hsa050332.95721831
3GABAergic synapse_Homo sapiens_hsa047272.54398414
4Circadian entrainment_Homo sapiens_hsa047132.45731261
5Olfactory transduction_Homo sapiens_hsa047402.43683195
6Long-term potentiation_Homo sapiens_hsa047202.40657795
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.33349894
8Glutamatergic synapse_Homo sapiens_hsa047242.32135580
9Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.31527894
10Morphine addiction_Homo sapiens_hsa050322.27783791
11Amphetamine addiction_Homo sapiens_hsa050312.25232348
12Insulin secretion_Homo sapiens_hsa049112.24903238
13Dopaminergic synapse_Homo sapiens_hsa047282.09787012
14Salivary secretion_Homo sapiens_hsa049701.93313255
15Cholinergic synapse_Homo sapiens_hsa047251.92840929
16Gastric acid secretion_Homo sapiens_hsa049711.80543780
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.78772597
18Cocaine addiction_Homo sapiens_hsa050301.77906113
19Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.71589090
20Renin secretion_Homo sapiens_hsa049241.63866665
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.62754519
22Taste transduction_Homo sapiens_hsa047421.59787683
23Serotonergic synapse_Homo sapiens_hsa047261.56536424
24Type II diabetes mellitus_Homo sapiens_hsa049301.54438145
25Long-term depression_Homo sapiens_hsa047301.54220884
26Oxytocin signaling pathway_Homo sapiens_hsa049211.51285283
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.44716697
28Nitrogen metabolism_Homo sapiens_hsa009101.40703433
29GnRH signaling pathway_Homo sapiens_hsa049121.39990703
30Gap junction_Homo sapiens_hsa045401.35970852
31Calcium signaling pathway_Homo sapiens_hsa040201.29850943
32Estrogen signaling pathway_Homo sapiens_hsa049151.27903133
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.23178955
34cAMP signaling pathway_Homo sapiens_hsa040241.21983077
35Glioma_Homo sapiens_hsa052141.18088912
36Dorso-ventral axis formation_Homo sapiens_hsa043201.14921763
37Axon guidance_Homo sapiens_hsa043601.14002113
38Collecting duct acid secretion_Homo sapiens_hsa049661.11465661
39Phosphatidylinositol signaling system_Homo sapiens_hsa040701.09293543
40Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.07926000
41ErbB signaling pathway_Homo sapiens_hsa040121.05843464
42Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.05166149
43Melanogenesis_Homo sapiens_hsa049161.04379707
44cGMP-PKG signaling pathway_Homo sapiens_hsa040221.01943531
45Pancreatic secretion_Homo sapiens_hsa049720.95504597
46Vibrio cholerae infection_Homo sapiens_hsa051100.94080068
47Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.93749362
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.91173855
49Carbohydrate digestion and absorption_Homo sapiens_hsa049730.89833664
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.89176846
51Thyroid hormone synthesis_Homo sapiens_hsa049180.88281789
52Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.86470292
53Type I diabetes mellitus_Homo sapiens_hsa049400.82351838
54Neurotrophin signaling pathway_Homo sapiens_hsa047220.79098675
55Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.78995397
56Oocyte meiosis_Homo sapiens_hsa041140.75508638
57Choline metabolism in cancer_Homo sapiens_hsa052310.73958670
58Dilated cardiomyopathy_Homo sapiens_hsa054140.70752926
59MAPK signaling pathway_Homo sapiens_hsa040100.70577124
60VEGF signaling pathway_Homo sapiens_hsa043700.70497036
61mTOR signaling pathway_Homo sapiens_hsa041500.68242860
62Renal cell carcinoma_Homo sapiens_hsa052110.68113039
63Sphingolipid signaling pathway_Homo sapiens_hsa040710.66921669
64Vitamin B6 metabolism_Homo sapiens_hsa007500.66696688
65Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.65460346
66Cardiac muscle contraction_Homo sapiens_hsa042600.64562206
67Endometrial cancer_Homo sapiens_hsa052130.63711545
68Endocytosis_Homo sapiens_hsa041440.63021102
69Prion diseases_Homo sapiens_hsa050200.62958498
70Ras signaling pathway_Homo sapiens_hsa040140.62815322
71Glucagon signaling pathway_Homo sapiens_hsa049220.61872528
72Thyroid hormone signaling pathway_Homo sapiens_hsa049190.61221682
73Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.58091714
74Rap1 signaling pathway_Homo sapiens_hsa040150.57011369
75Longevity regulating pathway - mammal_Homo sapiens_hsa042110.54245788
76Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.53937049
77Bile secretion_Homo sapiens_hsa049760.53740296
78Insulin signaling pathway_Homo sapiens_hsa049100.53548911
79Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.52542802
80Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.51704902
81Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.50410928
82Inositol phosphate metabolism_Homo sapiens_hsa005620.49645871
83Alcoholism_Homo sapiens_hsa050340.49033900
84Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.48366419
85Phototransduction_Homo sapiens_hsa047440.47916281
86Non-small cell lung cancer_Homo sapiens_hsa052230.47461179
87Circadian rhythm_Homo sapiens_hsa047100.46562820
88Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.46063004
89Prolactin signaling pathway_Homo sapiens_hsa049170.44801412
90Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.44620085
91Chemokine signaling pathway_Homo sapiens_hsa040620.44180719
92Wnt signaling pathway_Homo sapiens_hsa043100.43318962
93B cell receptor signaling pathway_Homo sapiens_hsa046620.43110878
94Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.42918181
95Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.42660302
96SNARE interactions in vesicular transport_Homo sapiens_hsa041300.42180732
97Ovarian steroidogenesis_Homo sapiens_hsa049130.42173760
98Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.41919404
99T cell receptor signaling pathway_Homo sapiens_hsa046600.41381218
100Maturity onset diabetes of the young_Homo sapiens_hsa049500.41155877
101Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.39128556
102Tuberculosis_Homo sapiens_hsa051520.39047459
103Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.38687367
104Osteoclast differentiation_Homo sapiens_hsa043800.36783679
105Colorectal cancer_Homo sapiens_hsa052100.35628984
106Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.33396544
107Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.32485039
108Platelet activation_Homo sapiens_hsa046110.31217512
109Mineral absorption_Homo sapiens_hsa049780.28699119
110Phagosome_Homo sapiens_hsa041450.27657384
111Regulation of autophagy_Homo sapiens_hsa041400.27256777
112HIF-1 signaling pathway_Homo sapiens_hsa040660.26641591

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