SOBP

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 nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1vocalization behavior (GO:0071625)5.40550321
2neuron cell-cell adhesion (GO:0007158)5.35763940
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.07913798
4regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.93234053
5synaptic vesicle exocytosis (GO:0016079)4.75434513
6locomotory exploration behavior (GO:0035641)4.71816852
7positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.71299620
8nucleobase catabolic process (GO:0046113)4.63032857
9protein localization to synapse (GO:0035418)4.56431303
10neuron recognition (GO:0008038)4.55071299
11positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.53367815
12regulation of glutamate receptor signaling pathway (GO:1900449)4.52138914
13ionotropic glutamate receptor signaling pathway (GO:0035235)4.50738316
14dendritic spine morphogenesis (GO:0060997)4.32537014
15layer formation in cerebral cortex (GO:0021819)4.28905922
16glutamate secretion (GO:0014047)4.20590171
17exploration behavior (GO:0035640)4.20451218
18axonal fasciculation (GO:0007413)4.17197561
19glutamate receptor signaling pathway (GO:0007215)4.14428612
20synaptic vesicle maturation (GO:0016188)4.12781472
21regulation of synaptic vesicle exocytosis (GO:2000300)4.05648110
22neuronal action potential propagation (GO:0019227)4.03791243
23regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.01219474
24establishment of mitochondrion localization (GO:0051654)3.85680249
25regulation of long-term neuronal synaptic plasticity (GO:0048169)3.83120872
26synaptic transmission, glutamatergic (GO:0035249)3.81501784
27postsynaptic membrane organization (GO:0001941)3.80465043
28regulation of neuronal synaptic plasticity (GO:0048168)3.74386226
29presynaptic membrane assembly (GO:0097105)3.72273731
30neuron-neuron synaptic transmission (GO:0007270)3.70161093
31neurotransmitter secretion (GO:0007269)3.63057734
32regulation of synaptic vesicle transport (GO:1902803)3.62553268
33mechanosensory behavior (GO:0007638)3.59714227
34positive regulation of synapse maturation (GO:0090129)3.58186608
35behavioral response to nicotine (GO:0035095)3.53364416
36regulation of synapse structural plasticity (GO:0051823)3.49489331
37response to auditory stimulus (GO:0010996)3.48896810
38presynaptic membrane organization (GO:0097090)3.47751567
39regulation of excitatory postsynaptic membrane potential (GO:0060079)3.46142080
40synaptic vesicle docking involved in exocytosis (GO:0016081)3.45554857
41long-term memory (GO:0007616)3.39466084
42gamma-aminobutyric acid signaling pathway (GO:0007214)3.38809952
43establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.38199324
44mitochondrion transport along microtubule (GO:0047497)3.38199324
45transmission of nerve impulse (GO:0019226)3.36740987
46regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.36688805
47negative regulation of synaptic transmission, GABAergic (GO:0032229)3.36003487
48central nervous system projection neuron axonogenesis (GO:0021952)3.35264354
49regulation of postsynaptic membrane potential (GO:0060078)3.34961752
50regulation of dendritic spine morphogenesis (GO:0061001)3.34898887
51neurotransmitter-gated ion channel clustering (GO:0072578)3.27965352
52synaptic vesicle endocytosis (GO:0048488)3.24326836
53cell migration in hindbrain (GO:0021535)3.23533413
54proline transport (GO:0015824)3.22140235
55positive regulation of membrane potential (GO:0045838)3.20884372
56positive regulation of synapse assembly (GO:0051965)3.19811499
57startle response (GO:0001964)3.17670028
58membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.17066736
59regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.16729311
60detection of calcium ion (GO:0005513)3.16364009
61dendrite morphogenesis (GO:0048813)3.15930406
62serotonin metabolic process (GO:0042428)3.15863864
63innervation (GO:0060384)3.14573479
64synapse assembly (GO:0007416)3.14346852
65positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.14158799
66gamma-aminobutyric acid transport (GO:0015812)3.13039009
67long-term synaptic potentiation (GO:0060291)3.12558857
68axon extension (GO:0048675)3.11984735
69regulation of vesicle fusion (GO:0031338)3.07584239
70neurotransmitter transport (GO:0006836)3.07577826
71positive regulation of dendritic spine development (GO:0060999)3.07190264
72G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.06835666
73regulation of synaptic plasticity (GO:0048167)3.06655196
74regulation of synapse maturation (GO:0090128)3.05096973
75retinal ganglion cell axon guidance (GO:0031290)3.04636882
76negative regulation of leukocyte chemotaxis (GO:0002689)3.04363159
77regulation of dendritic spine development (GO:0060998)3.01988266
78dendritic spine organization (GO:0097061)3.01961804
79positive regulation of dendritic spine morphogenesis (GO:0061003)3.00822825
80regulation of neurotransmitter secretion (GO:0046928)2.96937339
81axon ensheathment in central nervous system (GO:0032291)2.95482707
82central nervous system myelination (GO:0022010)2.95482707
83regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.94471118
84pyrimidine nucleobase catabolic process (GO:0006208)2.94386564
85regulation of synaptic transmission, glutamatergic (GO:0051966)2.92557369
86membrane depolarization (GO:0051899)2.90689370
87synapse organization (GO:0050808)2.90167633
88auditory behavior (GO:0031223)2.89537331
89learning (GO:0007612)2.88097853
90response to histamine (GO:0034776)2.86056853
91regulation of synapse assembly (GO:0051963)2.85833288
92cerebellar granule cell differentiation (GO:0021707)2.85525916
93behavioral fear response (GO:0001662)2.84451644
94behavioral defense response (GO:0002209)2.84451644
95cerebral cortex radially oriented cell migration (GO:0021799)2.82388448
96G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.81172052
97cerebellar Purkinje cell differentiation (GO:0021702)2.79801522
98cochlea development (GO:0090102)2.78629079
99neuronal ion channel clustering (GO:0045161)2.78420855
100positive regulation of neurotransmitter secretion (GO:0001956)2.78122600
101adult walking behavior (GO:0007628)2.77801755
102intraspecies interaction between organisms (GO:0051703)2.77382202
103social behavior (GO:0035176)2.77382202
104regulation of synapse organization (GO:0050807)2.77380879
105fear response (GO:0042596)2.77109745
106activation of protein kinase A activity (GO:0034199)2.76880582
107regulation of neurotransmitter levels (GO:0001505)2.76498681
108neuron maturation (GO:0042551)2.76325008
109neuromuscular synaptic transmission (GO:0007274)2.74809031
110primary amino compound metabolic process (GO:1901160)2.74651586
111regulation of respiratory system process (GO:0044065)2.74193880
112membrane hyperpolarization (GO:0060081)2.71665497
113regulation of respiratory gaseous exchange (GO:0043576)2.70997097
114adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.70819085
115membrane depolarization during action potential (GO:0086010)2.70817112
116central nervous system neuron axonogenesis (GO:0021955)2.70514254
117cellular potassium ion homeostasis (GO:0030007)2.70494548
118retina layer formation (GO:0010842)2.70115728
119limb bud formation (GO:0060174)2.69671299
120positive regulation of synaptic transmission, GABAergic (GO:0032230)2.67941421
121cell differentiation in hindbrain (GO:0021533)2.67384091
122regulation of neurotransmitter transport (GO:0051588)2.66403064
123synaptic transmission (GO:0007268)2.66246452
124protein polyglutamylation (GO:0018095)2.65667954
125potassium ion homeostasis (GO:0055075)2.62701898
126neuronal action potential (GO:0019228)2.59899443
127neuron projection extension (GO:1990138)2.58683920
128cranial nerve morphogenesis (GO:0021602)2.58284778
129positive regulation of microtubule polymerization or depolymerization (GO:0031112)2.58007327
130positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.54984883
131negative regulation of axonogenesis (GO:0050771)2.54384936
132positive regulation of potassium ion transmembrane transport (GO:1901381)2.53789645

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.54031148
2GBX2_23144817_ChIP-Seq_PC3_Human3.61598501
3* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.10048205
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.05210053
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.90777082
6* EZH2_27304074_Chip-Seq_ESCs_Mouse2.70490395
7* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.64873844
8* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.64873844
9* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.59043108
10* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.57421106
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.52406310
12SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.48637235
13EED_16625203_ChIP-ChIP_MESCs_Mouse2.39765465
14REST_21632747_ChIP-Seq_MESCs_Mouse2.38942731
15* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.33849536
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.31175607
17* EZH2_27294783_Chip-Seq_ESCs_Mouse2.23757291
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.20213959
19* RNF2_27304074_Chip-Seq_ESCs_Mouse2.18020934
20AR_21572438_ChIP-Seq_LNCaP_Human2.06753365
21CTBP2_25329375_ChIP-Seq_LNCAP_Human2.02769375
22DROSHA_22980978_ChIP-Seq_HELA_Human2.01044827
23GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.98256581
24TAF15_26573619_Chip-Seq_HEK293_Human1.96862493
25NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.94608892
26CTBP1_25329375_ChIP-Seq_LNCAP_Human1.91735490
27ZFP57_27257070_Chip-Seq_ESCs_Mouse1.83373744
28REST_18959480_ChIP-ChIP_MESCs_Mouse1.83350023
29RARB_27405468_Chip-Seq_BRAIN_Mouse1.81014427
30CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.78886377
31* CBX2_27304074_Chip-Seq_ESCs_Mouse1.74838147
32RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.69697026
33PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.68123298
34BMI1_23680149_ChIP-Seq_NPCS_Mouse1.66834540
35* SMAD4_21799915_ChIP-Seq_A2780_Human1.66666149
36ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.66461786
37PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.64275223
38P300_19829295_ChIP-Seq_ESCs_Human1.59865488
39ZNF274_21170338_ChIP-Seq_K562_Hela1.58179577
40IKZF1_21737484_ChIP-ChIP_HCT116_Human1.55538682
41RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.51804694
42* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.51714040
43HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.46617292
44SMAD3_21741376_ChIP-Seq_EPCs_Human1.44620386
45TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.44005230
46GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.43281017
47IGF1R_20145208_ChIP-Seq_DFB_Human1.43244390
48TOP2B_26459242_ChIP-Seq_MCF-7_Human1.42466219
49PIAS1_25552417_ChIP-Seq_VCAP_Human1.39900689
50SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.38889175
51OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.38265931
52RNF2_27304074_Chip-Seq_NSC_Mouse1.38007379
53POU3F2_20337985_ChIP-ChIP_501MEL_Human1.37058733
54RING1B_27294783_Chip-Seq_ESCs_Mouse1.33200386
55* CDX2_19796622_ChIP-Seq_MESCs_Mouse1.32266709
56FUS_26573619_Chip-Seq_HEK293_Human1.31987670
57SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29995602
58NR3C1_23031785_ChIP-Seq_PC12_Mouse1.27388345
59SOX2_21211035_ChIP-Seq_LN229_Gbm1.27364601
60AR_25329375_ChIP-Seq_VCAP_Human1.25842200
61ERG_21242973_ChIP-ChIP_JURKAT_Human1.22457140
62VDR_22108803_ChIP-Seq_LS180_Human1.22260956
63CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.22204131
64MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.20465086
65* RING1B_27294783_Chip-Seq_NPCs_Mouse1.20454107
66STAT3_23295773_ChIP-Seq_U87_Human1.18581162
67* TP53_20018659_ChIP-ChIP_R1E_Mouse1.17631786
68TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.17089368
69* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.14253042
70EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.13601642
71ER_23166858_ChIP-Seq_MCF-7_Human1.12619111
72ARNT_22903824_ChIP-Seq_MCF-7_Human1.11930272
73TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10681044
74POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.10681044
75SMAD_19615063_ChIP-ChIP_OVARY_Human1.10493684
76MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.09714156
77AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.09576688
78AR_19668381_ChIP-Seq_PC3_Human1.09049255
79POU5F1_16153702_ChIP-ChIP_HESCs_Human1.09014255
80TCF4_23295773_ChIP-Seq_U87_Human1.08812248
81ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08349992
82P53_22127205_ChIP-Seq_FIBROBLAST_Human1.06701230
83RUNX2_22187159_ChIP-Seq_PCA_Human1.06518176
84* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.06070073
85EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.05736905
86YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02697240
87AHR_22903824_ChIP-Seq_MCF-7_Human1.02576257
88MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02489948
89TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.02371040
90* KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.01900623
91* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.01876349
92TP53_18474530_ChIP-ChIP_U2OS_Human1.01581906
93TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01080552
94CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00971107
95WT1_25993318_ChIP-Seq_PODOCYTE_Human1.00893756
96BCAT_22108803_ChIP-Seq_LS180_Human1.00388535
97PRDM14_20953172_ChIP-Seq_ESCs_Human1.00380159
98NANOG_18555785_Chip-Seq_ESCs_Mouse1.00010200
99STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.98489745
100GATA1_26923725_Chip-Seq_HPCs_Mouse0.98201628
101SOX9_26525672_Chip-Seq_HEART_Mouse0.96442756
102* RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.95200777
103JUN_21703547_ChIP-Seq_K562_Human0.94351790
104TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.92672683
105SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.91701021
106TP53_16413492_ChIP-PET_HCT116_Human0.91226714
107SMAD4_21741376_ChIP-Seq_HESCs_Human0.90799350
108SMAD3_21741376_ChIP-Seq_ESCs_Human0.89960234
109EP300_21415370_ChIP-Seq_HL-1_Mouse0.89272012
110CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.88903488
111RBPJ_22232070_ChIP-Seq_NCS_Mouse0.88210026
112KLF5_20875108_ChIP-Seq_MESCs_Mouse0.85939741
113KDM2B_26808549_Chip-Seq_REH_Human0.85315919
114WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.85167021
115LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84378313

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.30844650
2MP0003880_abnormal_central_pattern4.94834804
3MP0003635_abnormal_synaptic_transmissio3.68377127
4MP0004270_analgesia3.38462151
5MP0009745_abnormal_behavioral_response3.03018189
6MP0002063_abnormal_learning/memory/cond3.02763627
7MP0005423_abnormal_somatic_nervous2.79124121
8MP0002064_seizures2.77876972
9MP0002572_abnormal_emotion/affect_behav2.61072016
10MP0000566_synostosis2.58670614
11MP0001968_abnormal_touch/_nociception2.58118191
12MP0009046_muscle_twitch2.55972046
13MP0002734_abnormal_mechanical_nocicepti2.47159185
14MP0002735_abnormal_chemical_nociception2.42561178
15MP0000778_abnormal_nervous_system2.42451574
16MP0001486_abnormal_startle_reflex2.39228842
17MP0002272_abnormal_nervous_system2.32930055
18MP0001440_abnormal_grooming_behavior2.24518500
19MP0006276_abnormal_autonomic_nervous2.23138002
20MP0000569_abnormal_digit_pigmentation2.19095349
21MP0002736_abnormal_nociception_after2.01662651
22MP0002184_abnormal_innervation2.00073270
23MP0002837_dystrophic_cardiac_calcinosis1.96704108
24MP0001501_abnormal_sleep_pattern1.96418968
25MP0002733_abnormal_thermal_nociception1.89470949
26MP0002067_abnormal_sensory_capabilities1.89399464
27MP0009780_abnormal_chondrocyte_physiolo1.89068661
28MP0003121_genomic_imprinting1.87261023
29MP0002822_catalepsy1.83023881
30MP0001970_abnormal_pain_threshold1.82469951
31MP0002557_abnormal_social/conspecific_i1.76555220
32MP0001188_hyperpigmentation1.67461731
33MP0004924_abnormal_behavior1.62032698
34MP0005386_behavior/neurological_phenoty1.62032698
35MP0000751_myopathy1.60902269
36MP0005645_abnormal_hypothalamus_physiol1.55322094
37MP0000955_abnormal_spinal_cord1.53584893
38MP0001984_abnormal_olfaction1.52331537
39MP0003329_amyloid_beta_deposits1.52115208
40MP0008569_lethality_at_weaning1.51656461
41MP0004811_abnormal_neuron_physiology1.50665283
42MP0002909_abnormal_adrenal_gland1.49824637
43MP0005646_abnormal_pituitary_gland1.45811749
44MP0002882_abnormal_neuron_morphology1.43623627
45MP0004145_abnormal_muscle_electrophysio1.42373656
46MP0001905_abnormal_dopamine_level1.42225859
47MP0010386_abnormal_urinary_bladder1.39489375
48MP0001529_abnormal_vocalization1.36869191
49MP0003122_maternal_imprinting1.36246623
50MP0004858_abnormal_nervous_system1.35763772
51MP0003879_abnormal_hair_cell1.34985339
52MP0004885_abnormal_endolymph1.34603599
53* MP0002066_abnormal_motor_capabilities/c1.32090556
54MP0003123_paternal_imprinting1.21998860
55MP0001502_abnormal_circadian_rhythm1.21489130
56MP0003787_abnormal_imprinting1.19370729
57MP0004142_abnormal_muscle_tone1.18581106
58MP0002152_abnormal_brain_morphology1.15665900
59MP0000631_abnormal_neuroendocrine_gland1.11801597
60MP0004215_abnormal_myocardial_fiber1.08128165
61MP0004133_heterotaxia1.05839827
62MP0000049_abnormal_middle_ear1.03358901
63MP0004085_abnormal_heartbeat1.02793644
64MP0003646_muscle_fatigue1.00963641
65MP0003633_abnormal_nervous_system0.99384474
66* MP0004742_abnormal_vestibular_system0.99184543
67MP0005409_darkened_coat_color0.98206083
68MP0005551_abnormal_eye_electrophysiolog0.97800488
69MP0004484_altered_response_of0.97100602
70MP0002938_white_spotting0.93624620
71MP0005394_taste/olfaction_phenotype0.93216083
72MP0005499_abnormal_olfactory_system0.93216083
73MP0002752_abnormal_somatic_nervous0.93152223
74* MP0001963_abnormal_hearing_physiology0.92876603
75MP0003137_abnormal_impulse_conducting0.92707238
76MP0002638_abnormal_pupillary_reflex0.92460906
77MP0003631_nervous_system_phenotype0.90084040
78MP0002102_abnormal_ear_morphology0.85603709
79MP0001485_abnormal_pinna_reflex0.85581437
80MP0006072_abnormal_retinal_apoptosis0.85340676
81MP0002069_abnormal_eating/drinking_beha0.85262106
82MP0002229_neurodegeneration0.84856892
83MP0003011_delayed_dark_adaptation0.84619590
84MP0003634_abnormal_glial_cell0.83305975
85MP0009379_abnormal_foot_pigmentation0.83304237
86* MP0000026_abnormal_inner_ear0.81927992
87MP0005195_abnormal_posterior_eye0.81460935
88MP0003937_abnormal_limbs/digits/tail_de0.81456800
89MP0008877_abnormal_DNA_methylation0.79997923
90MP0000647_abnormal_sebaceous_gland0.78394791
91MP0003890_abnormal_embryonic-extraembry0.76226942
92MP0000383_abnormal_hair_follicle0.75822960
93MP0003861_abnormal_nervous_system0.75788390
94MP0002234_abnormal_pharynx_morphology0.75538848
95MP0003938_abnormal_ear_development0.74224635
96MP0000427_abnormal_hair_cycle0.72861158
97MP0006292_abnormal_olfactory_placode0.72017821
98MP0005379_endocrine/exocrine_gland_phen0.71888296
99MP0002653_abnormal_ependyma_morphology0.71818101
100MP0002249_abnormal_larynx_morphology0.71614431
101MP0000013_abnormal_adipose_tissue0.71527504
102MP0005623_abnormal_meninges_morphology0.71481730
103MP0003119_abnormal_digestive_system0.70030623
104MP0002233_abnormal_nose_morphology0.69520402
105MP0002876_abnormal_thyroid_physiology0.68484196
106MP0001177_atelectasis0.68290789
107MP0003942_abnormal_urinary_system0.68055454
108MP0005620_abnormal_muscle_contractility0.68005613
109MP0005535_abnormal_body_temperature0.67423830
110MP0002081_perinatal_lethality0.66866166
111MP0003632_abnormal_nervous_system0.66697542
112MP0003283_abnormal_digestive_organ0.66598477
113MP0005253_abnormal_eye_physiology0.66345502
114MP0000534_abnormal_ureter_morphology0.66169193
115MP0005171_absent_coat_pigmentation0.64744911
116MP0005187_abnormal_penis_morphology0.64556188
117MP0004233_abnormal_muscle_weight0.63592946
118MP0001299_abnormal_eye_distance/0.63314829
119MP0002751_abnormal_autonomic_nervous0.63225905
120MP0000920_abnormal_myelination0.62433082
121MP0001943_abnormal_respiration0.61803502
122MP0008789_abnormal_olfactory_epithelium0.60904155
123MP0001664_abnormal_digestion0.60598505
124MP0004036_abnormal_muscle_relaxation0.58347678

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.03293077
2Focal seizures (HP:0007359)5.15932572
3Myokymia (HP:0002411)4.93414419
4Visual hallucinations (HP:0002367)4.81367368
5Epileptic encephalopathy (HP:0200134)4.64428675
6Atonic seizures (HP:0010819)4.38039063
7Hyperventilation (HP:0002883)4.08514259
8Febrile seizures (HP:0002373)4.06541104
9Progressive cerebellar ataxia (HP:0002073)4.03382163
10Absence seizures (HP:0002121)3.84032730
11Broad-based gait (HP:0002136)3.74161439
12Generalized tonic-clonic seizures (HP:0002069)3.60396317
13Dialeptic seizures (HP:0011146)3.55864684
14Supranuclear gaze palsy (HP:0000605)3.19909273
15Excessive salivation (HP:0003781)3.15538373
16Drooling (HP:0002307)3.15538373
17Cerebral inclusion bodies (HP:0100314)2.81636420
18Limb dystonia (HP:0002451)2.80471715
19Absent speech (HP:0001344)2.72589295
20Poor eye contact (HP:0000817)2.71367083
21Action tremor (HP:0002345)2.68583542
22Progressive inability to walk (HP:0002505)2.68269236
23Neurofibrillary tangles (HP:0002185)2.67664454
24Hemiparesis (HP:0001269)2.67121398
25Epileptiform EEG discharges (HP:0011182)2.65482014
26Pachygyria (HP:0001302)2.64310008
27Gaze-evoked nystagmus (HP:0000640)2.61722068
28Truncal ataxia (HP:0002078)2.60633799
29Termporal pattern (HP:0011008)2.60285310
30Insidious onset (HP:0003587)2.60285310
31Abnormality of the corticospinal tract (HP:0002492)2.56687322
32EEG with generalized epileptiform discharges (HP:0011198)2.56599626
33* Amblyopia (HP:0000646)2.56504158
34Ankle clonus (HP:0011448)2.55058169
35Impaired vibration sensation in the lower limbs (HP:0002166)2.54271394
36Anxiety (HP:0000739)2.53516238
37Mutism (HP:0002300)2.50455234
38Depression (HP:0000716)2.40371053
39Agitation (HP:0000713)2.40091126
40Urinary bladder sphincter dysfunction (HP:0002839)2.39709338
41Hypsarrhythmia (HP:0002521)2.39539769
42Impaired social interactions (HP:0000735)2.36508448
43Abnormal social behavior (HP:0012433)2.36508448
44Inability to walk (HP:0002540)2.36179663
45Abnormality of the aortic arch (HP:0012303)2.34649299
46Abnormal eating behavior (HP:0100738)2.33908722
47Dysmetria (HP:0001310)2.32860839
48Dysdiadochokinesis (HP:0002075)2.31891426
49Pheochromocytoma (HP:0002666)2.31176241
50Genetic anticipation (HP:0003743)2.31141602
51Polyphagia (HP:0002591)2.30348622
52Abnormality of binocular vision (HP:0011514)2.27931516
53Diplopia (HP:0000651)2.27931516
54Gait imbalance (HP:0002141)2.25056218
55Urinary urgency (HP:0000012)2.22870016
56Fetal akinesia sequence (HP:0001989)2.21873344
57Protruding tongue (HP:0010808)2.19062188
58Degeneration of the lateral corticospinal tracts (HP:0002314)2.16076278
59Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.16076278
60Status epilepticus (HP:0002133)2.15394334
61Megalencephaly (HP:0001355)2.12541010
62Abnormality of salivation (HP:0100755)2.11460324
63Neuroendocrine neoplasm (HP:0100634)2.07716249
64Nephronophthisis (HP:0000090)2.06496992
65Thickened helices (HP:0000391)2.05499076
66Stereotypic behavior (HP:0000733)2.04377511
67Aplasia/Hypoplasia of the brainstem (HP:0007362)2.03931875
68Hypoplasia of the brainstem (HP:0002365)2.03931875
69Obstructive sleep apnea (HP:0002870)2.03856460
70Optic nerve hypoplasia (HP:0000609)2.03576784
71Papilledema (HP:0001085)2.03145152
72Amyotrophic lateral sclerosis (HP:0007354)2.02685036
73Hyperthyroidism (HP:0000836)2.02185219
74Exotropia (HP:0000577)2.01996386
75Cerebellar dysplasia (HP:0007033)2.01274244
76Spastic gait (HP:0002064)2.00905008
77Shawl scrotum (HP:0000049)2.00192242
78Type II lissencephaly (HP:0007260)1.97294079
79Retinal dysplasia (HP:0007973)1.97230887
80Abnormal ciliary motility (HP:0012262)1.95103620
81Generalized myoclonic seizures (HP:0002123)1.91525980
82Muscle hypertrophy of the lower extremities (HP:0008968)1.89606118
83Sudden death (HP:0001699)1.89276303
84True hermaphroditism (HP:0010459)1.88661927
85Blue irides (HP:0000635)1.88003396
86Morphological abnormality of the pyramidal tract (HP:0002062)1.87803219
87Spastic tetraplegia (HP:0002510)1.87769231
88Lower limb muscle weakness (HP:0007340)1.86018253
89Postural instability (HP:0002172)1.84344929
90Abnormality of midbrain morphology (HP:0002418)1.83656033
91Molar tooth sign on MRI (HP:0002419)1.83656033
92Impaired smooth pursuit (HP:0007772)1.83396111
93Specific learning disability (HP:0001328)1.82658382
94Abnormality of the parathyroid morphology (HP:0011766)1.81503862
95Sleep apnea (HP:0010535)1.80960521
96Scanning speech (HP:0002168)1.80345954
97Medial flaring of the eyebrow (HP:0010747)1.80094366
98Akinesia (HP:0002304)1.79963071
99Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.79939498
100Short 4th metacarpal (HP:0010044)1.79939498
101Pancreatic fibrosis (HP:0100732)1.79896436
102Hypoventilation (HP:0002791)1.79890578
103Dynein arm defect of respiratory motile cilia (HP:0012255)1.79673830
104Absent/shortened dynein arms (HP:0200106)1.79673830
105Bradykinesia (HP:0002067)1.78226807
106Congenital primary aphakia (HP:0007707)1.76678860
107Inappropriate behavior (HP:0000719)1.76600134
108Midline defect of the nose (HP:0004122)1.75400537
109Hypothermia (HP:0002045)1.74665071
110Abnormal respiratory motile cilium physiology (HP:0012261)1.74441876
111Abnormal EKG (HP:0003115)1.74081247
112Lissencephaly (HP:0001339)1.73944304
113Prolonged QT interval (HP:0001657)1.73281519
114Sporadic (HP:0003745)1.72324272
115Palpebral edema (HP:0100540)1.71614824
116Acute necrotizing encephalopathy (HP:0006965)1.70462905
117Widely spaced teeth (HP:0000687)1.70094116
118Autoamputation (HP:0001218)1.69995491
119Focal dystonia (HP:0004373)1.68464644
120Progressive macrocephaly (HP:0004481)1.68419666
121Abnormality of the 4th metacarpal (HP:0010012)1.68083764
122Hypoplasia of the corpus callosum (HP:0002079)1.68080593
123Syncope (HP:0001279)1.67780446
124Torticollis (HP:0000473)1.67765588
125Gastroesophageal reflux (HP:0002020)1.67711017
126* Intellectual disability, severe (HP:0010864)1.66766923
127Gait ataxia (HP:0002066)1.66738714
128Cutaneous finger syndactyly (HP:0010554)1.66103390
129Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.66010278
130Symphalangism affecting the phalanges of the hand (HP:0009773)1.65750900
131Anophthalmia (HP:0000528)1.64500423
132Hepatoblastoma (HP:0002884)1.64355559
133Genital tract atresia (HP:0001827)1.63330306
134Nephrogenic diabetes insipidus (HP:0009806)1.61879621
135Tented upper lip vermilion (HP:0010804)1.60810099
136Vaginal atresia (HP:0000148)1.59582525
137Tapered finger (HP:0001182)1.56455650
138Intention tremor (HP:0002080)1.56268977

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.22808255
2NTRK33.96680147
3EPHA43.62111518
4MAP3K43.16646857
5PNCK2.90765573
6MAP3K92.90645831
7BRSK22.88366972
8MAP2K72.83578117
9CASK2.74652179
10WEE12.72404630
11MINK12.42120058
12NTRK22.18506129
13MAP3K122.10702566
14MAPK131.95081900
15DAPK21.89558058
16TNIK1.88978922
17MAP2K41.85863792
18PAK61.78543285
19RIPK41.77469812
20PLK21.74295151
21SIK21.69587917
22KSR11.67341184
23BRSK11.61849868
24PHKG21.58329756
25PHKG11.58329756
26GRK51.53693434
27CDK51.43250528
28NTRK11.40809589
29PRKD31.38910823
30UHMK11.35005563
31NME11.27494858
32PRPF4B1.26383101
33CAMK1D1.25685059
34CAMK2A1.19172585
35KSR21.17625832
36DAPK11.17382912
37PRKCG1.16808332
38PAK31.05094100
39BMPR21.04633433
40FES1.04127334
41MKNK20.99291632
42CAMKK10.97195574
43CAMK2B0.96341520
44DYRK1A0.94159113
45DYRK20.92928978
46FRK0.89863668
47LATS20.89657751
48CDK190.87864482
49CAMK1G0.86734451
50PTK2B0.85466205
51SGK2230.85441267
52SGK4940.85441267
53TYRO30.82077938
54TAF10.81365020
55PRKCE0.80635864
56MAPK150.79935946
57STK110.79450429
58CSNK1G20.79013795
59WNK30.78798076
60CDK140.77116378
61ARAF0.76117568
62GRK70.76067674
63FGR0.75997904
64CDK180.75787367
65CAMK10.75220520
66MAP3K20.73803642
67PKN10.73551916
68CDK150.72680418
69OXSR10.70971860
70OBSCN0.70759947
71SGK20.67771814
72CAMK2D0.66981833
73MUSK0.66953932
74SGK10.65728776
75MARK20.65650695
76STK380.65479084
77CAMKK20.63734435
78MAP3K100.62969031
79CDK11A0.62736037
80BCR0.62513556
81MAP3K60.60058271
82CSNK1G10.58922904
83ERBB30.58711566
84MAPK120.57714388
85ADRBK20.57654585
86EPHB20.55254968
87ROCK20.53621551
88PRKCZ0.53211557
89DYRK1B0.51443831
90STK390.51246617
91DYRK30.50926350
92WNK40.50316833
93CCNB10.48945959
94CDK30.48812493
95INSRR0.47452980
96RET0.47072587
97PRKCH0.46404982
98PRKAA10.45867570
99CSNK1D0.45381959
100DMPK0.45032462
101ADRBK10.44394299
102BMPR1B0.43505548
103FER0.43006945
104GRK10.42723697
105CAMK40.41952772
106CSNK1E0.41868762
107RPS6KA20.41730735
108FGFR20.41638895
109CAMK2G0.41215437
110CSNK1G30.40219146
111FYN0.39792346
112RPS6KA30.39544174
113CDC42BPA0.39235831
114MAPK100.38996902
115SIK30.38865004
116MAP3K130.38312670
117PRKG10.38275426
118PRKACA0.37955166
119CSNK1A1L0.37788891
120PINK10.36625059
121SGK30.36467363
122ERBB20.33892870
123TLK10.29353122
124ZAK0.29310966
125MAPKAPK50.28679428
126MAPK40.27395793
127WNK10.26961019
128MAP3K70.26781335

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.87844650
2Synaptic vesicle cycle_Homo sapiens_hsa047212.80134065
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.78265215
4Circadian entrainment_Homo sapiens_hsa047132.59651173
5GABAergic synapse_Homo sapiens_hsa047272.56783249
6Glutamatergic synapse_Homo sapiens_hsa047242.53805917
7Long-term potentiation_Homo sapiens_hsa047202.53072688
8Morphine addiction_Homo sapiens_hsa050322.41436599
9Amphetamine addiction_Homo sapiens_hsa050312.37419172
10Olfactory transduction_Homo sapiens_hsa047402.27154870
11Dopaminergic synapse_Homo sapiens_hsa047282.18170859
12Taste transduction_Homo sapiens_hsa047421.99487761
13Serotonergic synapse_Homo sapiens_hsa047261.98834026
14Insulin secretion_Homo sapiens_hsa049111.97929687
15Salivary secretion_Homo sapiens_hsa049701.96695378
16Cholinergic synapse_Homo sapiens_hsa047251.88253468
17Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.86383143
18Long-term depression_Homo sapiens_hsa047301.84861294
19Renin secretion_Homo sapiens_hsa049241.80902516
20Gastric acid secretion_Homo sapiens_hsa049711.74682792
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.69429820
22Cocaine addiction_Homo sapiens_hsa050301.65374932
23Cardiac muscle contraction_Homo sapiens_hsa042601.65254162
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.64855876
25Oxytocin signaling pathway_Homo sapiens_hsa049211.61988187
26Calcium signaling pathway_Homo sapiens_hsa040201.59713494
27Axon guidance_Homo sapiens_hsa043601.56359366
28Collecting duct acid secretion_Homo sapiens_hsa049661.55861568
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.46268781
30Gap junction_Homo sapiens_hsa045401.41169153
31Oxidative phosphorylation_Homo sapiens_hsa001901.40001899
32GnRH signaling pathway_Homo sapiens_hsa049121.39866380
33Alzheimers disease_Homo sapiens_hsa050101.34152959
34Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.31265623
35Regulation of autophagy_Homo sapiens_hsa041401.26946112
36cAMP signaling pathway_Homo sapiens_hsa040241.20819840
37Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.19168820
38Melanogenesis_Homo sapiens_hsa049161.18655333
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.13578527
40Phototransduction_Homo sapiens_hsa047441.11981687
41Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.11552834
42Type II diabetes mellitus_Homo sapiens_hsa049301.11506592
43Butanoate metabolism_Homo sapiens_hsa006501.11279961
44Estrogen signaling pathway_Homo sapiens_hsa049151.11092975
45cGMP-PKG signaling pathway_Homo sapiens_hsa040221.10811794
46Parkinsons disease_Homo sapiens_hsa050121.09356297
47Basal cell carcinoma_Homo sapiens_hsa052171.05292848
48Vibrio cholerae infection_Homo sapiens_hsa051101.04119146
49Dilated cardiomyopathy_Homo sapiens_hsa054140.99538672
50ErbB signaling pathway_Homo sapiens_hsa040120.98486044
51Glioma_Homo sapiens_hsa052140.97094744
52Vascular smooth muscle contraction_Homo sapiens_hsa042700.96283130
53Maturity onset diabetes of the young_Homo sapiens_hsa049500.93366538
54Dorso-ventral axis formation_Homo sapiens_hsa043200.88447138
55Phosphatidylinositol signaling system_Homo sapiens_hsa040700.87207047
56Huntingtons disease_Homo sapiens_hsa050160.80915287
57Pancreatic secretion_Homo sapiens_hsa049720.76383592
58Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.75398105
59Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.75284686
60Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.74341675
61Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.73511530
62beta-Alanine metabolism_Homo sapiens_hsa004100.72860123
63MAPK signaling pathway_Homo sapiens_hsa040100.71147428
64Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.70947399
65Bile secretion_Homo sapiens_hsa049760.70468972
66Choline metabolism in cancer_Homo sapiens_hsa052310.70357632
67Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.68232304
68Wnt signaling pathway_Homo sapiens_hsa043100.67562088
69Phospholipase D signaling pathway_Homo sapiens_hsa040720.67022537
70Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.66983143
71Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.66307995
72Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.65907269
73Thyroid hormone synthesis_Homo sapiens_hsa049180.65577804
74Oocyte meiosis_Homo sapiens_hsa041140.65202292
75Ras signaling pathway_Homo sapiens_hsa040140.64000499
76Hippo signaling pathway_Homo sapiens_hsa043900.61794690
77Steroid biosynthesis_Homo sapiens_hsa001000.61101853
78Nitrogen metabolism_Homo sapiens_hsa009100.60456115
79Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.60051757
80Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.59923245
81Renal cell carcinoma_Homo sapiens_hsa052110.57477947
82Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.57235002
83Glucagon signaling pathway_Homo sapiens_hsa049220.56325248
84Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.55496055
85Sphingolipid signaling pathway_Homo sapiens_hsa040710.54114352
86VEGF signaling pathway_Homo sapiens_hsa043700.52747527
87Ether lipid metabolism_Homo sapiens_hsa005650.51185711
88Rap1 signaling pathway_Homo sapiens_hsa040150.51014831
89Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.48365761
90Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.47866452
91Alcoholism_Homo sapiens_hsa050340.47458367
92Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.47198850
93Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.46907969
94ABC transporters_Homo sapiens_hsa020100.45452374
95Linoleic acid metabolism_Homo sapiens_hsa005910.45368429
96Neurotrophin signaling pathway_Homo sapiens_hsa047220.45030269
97Circadian rhythm_Homo sapiens_hsa047100.44537992
98Ovarian steroidogenesis_Homo sapiens_hsa049130.43773325
99Carbohydrate digestion and absorption_Homo sapiens_hsa049730.43258350
100Hedgehog signaling pathway_Homo sapiens_hsa043400.41848818
101Propanoate metabolism_Homo sapiens_hsa006400.40918893
102Type I diabetes mellitus_Homo sapiens_hsa049400.40329620
103African trypanosomiasis_Homo sapiens_hsa051430.40156188
104Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.39188986
105Thyroid hormone signaling pathway_Homo sapiens_hsa049190.38859895
106Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.38213497
107Histidine metabolism_Homo sapiens_hsa003400.38158256
108Prion diseases_Homo sapiens_hsa050200.36827073
109Steroid hormone biosynthesis_Homo sapiens_hsa001400.34725992
110Endometrial cancer_Homo sapiens_hsa052130.34237389
111Insulin signaling pathway_Homo sapiens_hsa049100.33519221
112AMPK signaling pathway_Homo sapiens_hsa041520.33099454
113Inositol phosphate metabolism_Homo sapiens_hsa005620.32263048
114Tryptophan metabolism_Homo sapiens_hsa003800.31901975
115alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.31283129
116Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.31161825
117Colorectal cancer_Homo sapiens_hsa052100.30666618
118Longevity regulating pathway - mammal_Homo sapiens_hsa042110.29745189
119Vitamin B6 metabolism_Homo sapiens_hsa007500.29317639
120Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.28589108
121Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.28321456
122Endocytosis_Homo sapiens_hsa041440.26418078
123Melanoma_Homo sapiens_hsa052180.25599791

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