POU3F3

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 POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role in development of the nervous system. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuron cell-cell adhesion (GO:0007158)5.43840864
2nucleobase catabolic process (GO:0046113)5.10197949
3axon ensheathment in central nervous system (GO:0032291)5.04379834
4central nervous system myelination (GO:0022010)5.04379834
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.81172703
6vocalization behavior (GO:0071625)4.81138990
7presynaptic membrane assembly (GO:0097105)4.76723824
8positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.59011704
9presynaptic membrane organization (GO:0097090)4.52366326
10neuron recognition (GO:0008038)4.46764583
11locomotory exploration behavior (GO:0035641)4.42712466
12protein localization to synapse (GO:0035418)4.34365610
13ionotropic glutamate receptor signaling pathway (GO:0035235)4.32052096
14postsynaptic membrane organization (GO:0001941)4.29729493
15* cerebral cortex radially oriented cell migration (GO:0021799)4.29047166
16dendritic spine morphogenesis (GO:0060997)4.26670354
17regulation of glutamate receptor signaling pathway (GO:1900449)4.20917509
18layer formation in cerebral cortex (GO:0021819)4.20803144
19axonal fasciculation (GO:0007413)4.14443555
20regulation of short-term neuronal synaptic plasticity (GO:0048172)4.12949208
21neurotransmitter-gated ion channel clustering (GO:0072578)4.03146063
22glutamate receptor signaling pathway (GO:0007215)3.90522155
23central nervous system projection neuron axonogenesis (GO:0021952)3.81653979
24synaptic vesicle exocytosis (GO:0016079)3.79547833
25L-amino acid import (GO:0043092)3.77834450
26negative regulation of oligodendrocyte differentiation (GO:0048715)3.75207411
27synaptic transmission, glutamatergic (GO:0035249)3.72255109
28auditory behavior (GO:0031223)3.67491441
29exploration behavior (GO:0035640)3.62148246
30transmission of nerve impulse (GO:0019226)3.62106564
31dendrite morphogenesis (GO:0048813)3.59333765
32forebrain neuron differentiation (GO:0021879)3.58744601
33cerebellar granule cell differentiation (GO:0021707)3.54185230
34negative regulation of synaptic transmission, GABAergic (GO:0032229)3.53624765
35regulation of synaptic vesicle exocytosis (GO:2000300)3.53607288
36neuronal action potential propagation (GO:0019227)3.53537623
37regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.52684087
38positive regulation of synapse assembly (GO:0051965)3.51643858
39synaptic vesicle maturation (GO:0016188)3.51641370
40regulation of synapse structural plasticity (GO:0051823)3.48883431
41limb bud formation (GO:0060174)3.48378828
42glutamate secretion (GO:0014047)3.48371244
43cell migration in hindbrain (GO:0021535)3.46991928
44neuron-neuron synaptic transmission (GO:0007270)3.46976700
45spinal cord development (GO:0021510)3.43468785
46regulation of neuronal synaptic plasticity (GO:0048168)3.43205964
47regulation of dendritic spine morphogenesis (GO:0061001)3.41954755
48regulation of long-term neuronal synaptic plasticity (GO:0048169)3.39888642
49neuronal stem cell maintenance (GO:0097150)3.39468924
50positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.33089791
51gamma-aminobutyric acid transport (GO:0015812)3.29913759
52regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.26695773
53amino acid import (GO:0043090)3.23677819
54negative regulation of neurotransmitter transport (GO:0051589)3.23439591
55lateral sprouting from an epithelium (GO:0060601)3.22879828
56olfactory bulb development (GO:0021772)3.22837022
57mechanosensory behavior (GO:0007638)3.22571203
58response to auditory stimulus (GO:0010996)3.17901203
59positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.17794667
60pyrimidine nucleobase catabolic process (GO:0006208)3.17343967
61startle response (GO:0001964)3.16255936
62nonmotile primary cilium assembly (GO:0035058)3.16035818
63calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)3.16013336
64central nervous system neuron axonogenesis (GO:0021955)3.13658074
65regulation of excitatory postsynaptic membrane potential (GO:0060079)3.12022562
66positive regulation of membrane potential (GO:0045838)3.10448763
67neuronal ion channel clustering (GO:0045161)3.09572559
68establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.09414704
69mitochondrion transport along microtubule (GO:0047497)3.09414704
70positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.08972543
71regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.07653885
72membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.07186045
73regulation of synaptic transmission, glutamatergic (GO:0051966)3.07185948
74camera-type eye morphogenesis (GO:0048593)3.06845292
75long-term memory (GO:0007616)3.05755365
76regulation of synaptic vesicle transport (GO:1902803)3.04280940
77retinal ganglion cell axon guidance (GO:0031290)3.03757935
78negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.01757469
79synapse assembly (GO:0007416)3.01143744
80hippocampus development (GO:0021766)3.01122573
81synaptic vesicle docking involved in exocytosis (GO:0016081)3.01031024
82regulation of dendritic spine development (GO:0060998)3.00715788
83long-term synaptic potentiation (GO:0060291)3.00236553
84behavioral response to nicotine (GO:0035095)2.99917878
85neurotransmitter secretion (GO:0007269)2.98644778
86G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.98028828
87positive regulation of synapse maturation (GO:0090129)2.96935184
88dendritic spine organization (GO:0097061)2.96851041
89cerebral cortex neuron differentiation (GO:0021895)2.95257872
90regulation of postsynaptic membrane potential (GO:0060078)2.95204455
91positive regulation of dendritic spine development (GO:0060999)2.93761821
92dendrite development (GO:0016358)2.92361458
93apical protein localization (GO:0045176)2.92336316
94negative regulation of glial cell differentiation (GO:0045686)2.91459106
95gamma-aminobutyric acid signaling pathway (GO:0007214)2.90378216
96cell proliferation in forebrain (GO:0021846)2.90328540
97positive regulation of neuroblast proliferation (GO:0002052)2.88333475
98neuron fate determination (GO:0048664)2.87960233
99myelination (GO:0042552)2.87502953
100regulation of synapse assembly (GO:0051963)2.86938839
101adult walking behavior (GO:0007628)2.86504144
102regulation of synaptic plasticity (GO:0048167)2.86251644
103tongue development (GO:0043586)2.84201036
104negative regulation of axonogenesis (GO:0050771)2.83843561
105oligodendrocyte differentiation (GO:0048709)2.82778658
106establishment of mitochondrion localization (GO:0051654)2.81827078
107negative regulation of astrocyte differentiation (GO:0048712)2.81059093
108regulation of respiratory system process (GO:0044065)2.79729379
109negative regulation of axon extension (GO:0030517)2.78987103
110substrate-independent telencephalic tangential interneuron migration (GO:0021843)2.78689094
111substrate-independent telencephalic tangential migration (GO:0021826)2.78689094
112epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.78536578
113ensheathment of neurons (GO:0007272)2.77902002
114axon ensheathment (GO:0008366)2.77902002
115axon extension (GO:0048675)2.77266636
116synapse organization (GO:0050808)2.77073522
117neuron migration (GO:0001764)2.76707450
118somite development (GO:0061053)2.76084955
119long-chain fatty acid biosynthetic process (GO:0042759)2.74332512
120negative regulation of neurotransmitter secretion (GO:0046929)2.74281875
121regulation of synapse organization (GO:0050807)2.74227821
122learning (GO:0007612)2.73934625
123regulation of synapse maturation (GO:0090128)2.73827681
124regulation of development, heterochronic (GO:0040034)2.72059576
125positive regulation of dendritic spine morphogenesis (GO:0061003)2.68884831
126regulation of oligodendrocyte differentiation (GO:0048713)2.66273556
127astrocyte differentiation (GO:0048708)2.65702997
128membrane assembly (GO:0071709)2.65582934
129hindbrain development (GO:0030902)2.64885673
130cellular response to cholesterol (GO:0071397)2.64219853
131establishment of nucleus localization (GO:0040023)2.62851562
132otic vesicle formation (GO:0030916)2.60406945
133limb development (GO:0060173)2.59961074
134appendage development (GO:0048736)2.59961074
135axonogenesis (GO:0007409)2.58630561
136* cerebral cortex cell migration (GO:0021795)2.58398325

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.42408040
2GBX2_23144817_ChIP-Seq_PC3_Human3.76808435
3* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.13590819
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.01980307
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.94055049
6* EZH2_27304074_Chip-Seq_ESCs_Mouse2.83567379
7* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.70859074
8* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.70859074
9RBPJ_22232070_ChIP-Seq_NCS_Mouse2.68827037
10* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.62403896
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.61575397
12* EED_16625203_ChIP-ChIP_MESCs_Mouse2.57537309
13* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.57087111
14* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.52531004
15* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.30674867
16* EZH2_27294783_Chip-Seq_ESCs_Mouse2.30537763
17* RNF2_27304074_Chip-Seq_ESCs_Mouse2.30291277
18* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.24703422
19AR_21572438_ChIP-Seq_LNCaP_Human2.24033994
20* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.22993342
21REST_21632747_ChIP-Seq_MESCs_Mouse2.13895240
22GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.08322440
23* CBX2_27304074_Chip-Seq_ESCs_Mouse2.05981469
24DROSHA_22980978_ChIP-Seq_HELA_Human1.97830290
25CTBP2_25329375_ChIP-Seq_LNCAP_Human1.89617997
26* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.89515960
27TAF15_26573619_Chip-Seq_HEK293_Human1.85045281
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.84651032
29ZFP57_27257070_Chip-Seq_ESCs_Mouse1.84213880
30* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.82832936
31CTBP1_25329375_ChIP-Seq_LNCAP_Human1.77825917
32RARB_27405468_Chip-Seq_BRAIN_Mouse1.76170189
33* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.71593872
34NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.70438204
35REST_18959480_ChIP-ChIP_MESCs_Mouse1.62912627
36CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.61643866
37* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.59250178
38GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.58558968
39P300_19829295_ChIP-Seq_ESCs_Human1.54654481
40* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.52682384
41SMAD3_21741376_ChIP-Seq_EPCs_Human1.51152269
42SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.49321899
43* SMAD4_21799915_ChIP-Seq_A2780_Human1.48096627
44RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.47179957
45BMI1_23680149_ChIP-Seq_NPCS_Mouse1.43390444
46* RING1B_27294783_Chip-Seq_ESCs_Mouse1.42638437
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.40099958
48PIAS1_25552417_ChIP-Seq_VCAP_Human1.39997032
49* RNF2_27304074_Chip-Seq_NSC_Mouse1.38324444
50ZNF274_21170338_ChIP-Seq_K562_Hela1.37762963
51RING1B_27294783_Chip-Seq_NPCs_Mouse1.37282874
52KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.36493068
53POU3F2_20337985_ChIP-ChIP_501MEL_Human1.35091697
54CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.33451045
55OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.30528770
56MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.30480513
57TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.30107627
58MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.29695686
59ERG_21242973_ChIP-ChIP_JURKAT_Human1.29479885
60SALL1_21062744_ChIP-ChIP_HESCs_Human1.29265085
61TOP2B_26459242_ChIP-Seq_MCF-7_Human1.28555695
62FUS_26573619_Chip-Seq_HEK293_Human1.27648513
63CDX2_19796622_ChIP-Seq_MESCs_Mouse1.27050395
64IGF1R_20145208_ChIP-Seq_DFB_Human1.26481058
65IKZF1_21737484_ChIP-ChIP_HCT116_Human1.24843303
66EWS_26573619_Chip-Seq_HEK293_Human1.23526647
67VDR_22108803_ChIP-Seq_LS180_Human1.22459909
68ER_23166858_ChIP-Seq_MCF-7_Human1.19667442
69ARNT_22903824_ChIP-Seq_MCF-7_Human1.19530975
70* SOX2_21211035_ChIP-Seq_LN229_Gbm1.18678271
71TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17019312
72POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.17019312
73* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.15570301
74STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.14555961
75TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.13964609
76AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.13500022
77STAT3_23295773_ChIP-Seq_U87_Human1.13222343
78VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.12787878
79AR_25329375_ChIP-Seq_VCAP_Human1.12754162
80RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.11413340
81SOX9_26525672_Chip-Seq_HEART_Mouse1.10439200
82AHR_22903824_ChIP-Seq_MCF-7_Human1.09947110
83TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.09511714
84TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09480818
85UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.09362869
86ZNF217_24962896_ChIP-Seq_MCF-7_Human1.07570897
87WT1_25993318_ChIP-Seq_PODOCYTE_Human1.07172661
88NR3C1_21868756_ChIP-Seq_MCF10A_Human1.07075495
89NANOG_18555785_Chip-Seq_ESCs_Mouse1.05579217
90TCF4_23295773_ChIP-Seq_U87_Human1.05486040
91CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04250410
92* P53_22127205_ChIP-Seq_FIBROBLAST_Human1.04049645
93PRDM14_20953172_ChIP-Seq_ESCs_Human1.03879432
94RUNX2_22187159_ChIP-Seq_PCA_Human1.03817002
95TP53_18474530_ChIP-ChIP_U2OS_Human1.03559582
96AR_19668381_ChIP-Seq_PC3_Human1.03096874
97NR3C1_23031785_ChIP-Seq_PC12_Mouse1.02332849
98CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.01152021
99YAP1_20516196_ChIP-Seq_MESCs_Mouse1.01071635
100MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00203507
101POU5F1_16153702_ChIP-ChIP_HESCs_Human0.98522053
102GATA1_26923725_Chip-Seq_HPCs_Mouse0.97991444
103SMAD_19615063_ChIP-ChIP_OVARY_Human0.97937789
104HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.97196183
105MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.96633959
106POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.96395061
107SMAD3_21741376_ChIP-Seq_ESCs_Human0.95566414
108CBP_20019798_ChIP-Seq_JUKART_Human0.95324205
109IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.95324205
110TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.94759946
111E2F1_18555785_Chip-Seq_ESCs_Mouse0.93511984
112* TP53_20018659_ChIP-ChIP_R1E_Mouse0.93304263
113WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.92645737
114* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.91772393
115* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.91216298
116CMYC_18555785_Chip-Seq_ESCs_Mouse0.90516952
117LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90471110

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.87486576
2MP0003880_abnormal_central_pattern4.71242416
3MP0003635_abnormal_synaptic_transmissio3.33114647
4MP0004270_analgesia3.32705694
5MP0000778_abnormal_nervous_system3.07074985
6MP0005423_abnormal_somatic_nervous2.98103190
7MP0002063_abnormal_learning/memory/cond2.83182239
8MP0009745_abnormal_behavioral_response2.80506816
9MP0001486_abnormal_startle_reflex2.79446191
10MP0002064_seizures2.67917000
11MP0002572_abnormal_emotion/affect_behav2.44290916
12MP0001968_abnormal_touch/_nociception2.37931120
13MP0004885_abnormal_endolymph2.36032458
14MP0009046_muscle_twitch2.32871780
15MP0002272_abnormal_nervous_system2.22051500
16MP0002734_abnormal_mechanical_nocicepti2.18048619
17MP0005646_abnormal_pituitary_gland2.09097931
18MP0002736_abnormal_nociception_after2.06745838
19MP0006292_abnormal_olfactory_placode1.93429073
20MP0009780_abnormal_chondrocyte_physiolo1.87572750
21MP0002067_abnormal_sensory_capabilities1.85968707
22MP0004742_abnormal_vestibular_system1.85471634
23MP0001440_abnormal_grooming_behavior1.80531804
24MP0002557_abnormal_social/conspecific_i1.79740925
25MP0002184_abnormal_innervation1.76263828
26MP0003136_yellow_coat_color1.72270254
27MP0000920_abnormal_myelination1.69871883
28MP0002735_abnormal_chemical_nociception1.67471699
29MP0003121_genomic_imprinting1.67359148
30MP0000955_abnormal_spinal_cord1.67149348
31MP0000566_synostosis1.62633428
32MP0002733_abnormal_thermal_nociception1.61150105
33MP0004858_abnormal_nervous_system1.60566122
34MP0001485_abnormal_pinna_reflex1.60383181
35MP0002882_abnormal_neuron_morphology1.59418547
36MP0005645_abnormal_hypothalamus_physiol1.57908324
37MP0001529_abnormal_vocalization1.57695039
38MP0002822_catalepsy1.57525266
39MP0000631_abnormal_neuroendocrine_gland1.56819104
40MP0005409_darkened_coat_color1.54815255
41MP0003329_amyloid_beta_deposits1.53650987
42MP0001970_abnormal_pain_threshold1.51570457
43MP0002638_abnormal_pupillary_reflex1.49680488
44MP0008569_lethality_at_weaning1.49230332
45MP0001188_hyperpigmentation1.49009511
46MP0004924_abnormal_behavior1.48764198
47MP0005386_behavior/neurological_phenoty1.48764198
48MP0003938_abnormal_ear_development1.47245593
49MP0001501_abnormal_sleep_pattern1.43908683
50MP0004811_abnormal_neuron_physiology1.42296750
51MP0006276_abnormal_autonomic_nervous1.41060819
52MP0001905_abnormal_dopamine_level1.40639653
53MP0004142_abnormal_muscle_tone1.39842454
54MP0004133_heterotaxia1.39418923
55MP0003634_abnormal_glial_cell1.37499191
56MP0002066_abnormal_motor_capabilities/c1.37001727
57MP0000026_abnormal_inner_ear1.36886780
58* MP0002152_abnormal_brain_morphology1.35676748
59MP0001963_abnormal_hearing_physiology1.33236720
60MP0003787_abnormal_imprinting1.32096994
61MP0001984_abnormal_olfaction1.30316429
62MP0003690_abnormal_glial_cell1.28635979
63MP0005187_abnormal_penis_morphology1.22030656
64MP0005171_absent_coat_pigmentation1.18961093
65MP0005377_hearing/vestibular/ear_phenot1.18312276
66MP0003878_abnormal_ear_physiology1.18312276
67MP0002752_abnormal_somatic_nervous1.14656578
68MP0005499_abnormal_olfactory_system1.14313247
69MP0005394_taste/olfaction_phenotype1.14313247
70MP0001502_abnormal_circadian_rhythm1.11903769
71MP0003861_abnormal_nervous_system1.08710936
72MP0003879_abnormal_hair_cell1.06825950
73MP0005551_abnormal_eye_electrophysiolog1.04737361
74MP0001293_anophthalmia1.03818049
75MP0003633_abnormal_nervous_system1.02651466
76MP0003631_nervous_system_phenotype1.01369226
77MP0001177_atelectasis0.99862401
78MP0002102_abnormal_ear_morphology0.99602348
79MP0003119_abnormal_digestive_system0.98976721
80MP0002229_neurodegeneration0.97671873
81MP0008789_abnormal_olfactory_epithelium0.97119000
82MP0003632_abnormal_nervous_system0.95345206
83MP0009053_abnormal_anal_canal0.93807071
84MP0002697_abnormal_eye_size0.93424950
85MP0002653_abnormal_ependyma_morphology0.93285605
86MP0003890_abnormal_embryonic-extraembry0.92914150
87MP0005391_vision/eye_phenotype0.92599091
88MP0003937_abnormal_limbs/digits/tail_de0.91203406
89MP0000569_abnormal_digit_pigmentation0.90541982
90MP0004043_abnormal_pH_regulation0.90231881
91MP0002092_abnormal_eye_morphology0.89625105
92MP0001286_abnormal_eye_development0.87706609
93MP0002249_abnormal_larynx_morphology0.87082326
94MP0002938_white_spotting0.84870132
95MP0000428_abnormal_craniofacial_morphol0.84030397
96MP0000537_abnormal_urethra_morphology0.83232489
97MP0002069_abnormal_eating/drinking_beha0.83228994
98MP0004134_abnormal_chest_morphology0.82812281
99MP0000579_abnormal_nail_morphology0.82140746
100MP0003283_abnormal_digestive_organ0.81497141
101* MP0000049_abnormal_middle_ear0.81248968
102MP0003385_abnormal_body_wall0.76942640
103MP0001299_abnormal_eye_distance/0.75967854
104MP0002751_abnormal_autonomic_nervous0.72856616
105MP0001943_abnormal_respiration0.72476735
106MP0005195_abnormal_posterior_eye0.70983659
107MP0002234_abnormal_pharynx_morphology0.70252067
108MP0009250_abnormal_appendicular_skeleto0.68008636
109MP0001664_abnormal_digestion0.67801882
110MP0000534_abnormal_ureter_morphology0.67752996
111MP0003137_abnormal_impulse_conducting0.67094155
112MP0002233_abnormal_nose_morphology0.65148145
113MP0006072_abnormal_retinal_apoptosis0.64862250
114MP0003755_abnormal_palate_morphology0.64812453
115MP0003122_maternal_imprinting0.64514346
116MP0002909_abnormal_adrenal_gland0.61542028
117MP0005253_abnormal_eye_physiology0.61446668
118MP0005248_abnormal_Harderian_gland0.60909199
119* MP0002116_abnormal_craniofacial_bone0.59545066
120MP0000751_myopathy0.59237181

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.47569520
2Myokymia (HP:0002411)4.76204410
3Hyperventilation (HP:0002883)4.15085246
4Epileptic encephalopathy (HP:0200134)3.98549308
5Focal seizures (HP:0007359)3.78546868
6Megalencephaly (HP:0001355)3.52681610
7Broad-based gait (HP:0002136)3.49424122
8Neurofibrillary tangles (HP:0002185)3.35245852
9Aplasia involving bones of the extremities (HP:0009825)3.10563517
10Aplasia involving bones of the upper limbs (HP:0009823)3.10563517
11Aplasia of the phalanges of the hand (HP:0009802)3.10563517
12Supranuclear gaze palsy (HP:0000605)3.05973834
13Drooling (HP:0002307)3.03713453
14Excessive salivation (HP:0003781)3.03713453
15Ankle clonus (HP:0011448)2.91314074
16Progressive cerebellar ataxia (HP:0002073)2.89943907
17Abnormality of the corticospinal tract (HP:0002492)2.85128506
18Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.84399199
19Degeneration of the lateral corticospinal tracts (HP:0002314)2.84399199
20True hermaphroditism (HP:0010459)2.79163571
21Short 4th metacarpal (HP:0010044)2.77533712
22Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.77533712
23Febrile seizures (HP:0002373)2.76150123
24Cerebral inclusion bodies (HP:0100314)2.75357650
25Increased circulating renin level (HP:0000848)2.71824355
26Atonic seizures (HP:0010819)2.69227372
27Hemiparesis (HP:0001269)2.64794500
28Hepatoblastoma (HP:0002884)2.64381894
29Abnormality of the 4th metacarpal (HP:0010012)2.63313692
30Aplasia/Hypoplasia of the sternum (HP:0006714)2.61369291
31Alacrima (HP:0000522)2.58646027
32Thickened helices (HP:0000391)2.57966338
33Metabolic alkalosis (HP:0200114)2.54511315
34Split foot (HP:0001839)2.52176618
35Dysmetria (HP:0001310)2.51949042
36Oligodactyly (hands) (HP:0001180)2.50233261
37Abnormality of the diencephalon (HP:0010662)2.49949097
38Abnormality of the labia minora (HP:0012880)2.48477562
39Spastic gait (HP:0002064)2.45866033
40Oligodactyly (HP:0012165)2.43448496
41Nephronophthisis (HP:0000090)2.42349783
42Action tremor (HP:0002345)2.41517218
43Septo-optic dysplasia (HP:0100842)2.41118529
44Generalized tonic-clonic seizures (HP:0002069)2.38105374
45Absent speech (HP:0001344)2.36755945
46Limb dystonia (HP:0002451)2.34785921
47Rib fusion (HP:0000902)2.33685797
48Poor eye contact (HP:0000817)2.33525221
49Impaired vibration sensation in the lower limbs (HP:0002166)2.31794837
50Abnormal eating behavior (HP:0100738)2.31441637
51Decreased lacrimation (HP:0000633)2.26329571
52Absent septum pellucidum (HP:0001331)2.26018553
53Insidious onset (HP:0003587)2.25998915
54Termporal pattern (HP:0011008)2.25998915
55Synostosis involving the elbow (HP:0003938)2.24598274
56Humeroradial synostosis (HP:0003041)2.24598274
57Absence seizures (HP:0002121)2.23989319
58Dialeptic seizures (HP:0011146)2.23863249
59Pancreatic fibrosis (HP:0100732)2.22229004
60Dysdiadochokinesis (HP:0002075)2.21129885
61Cortical dysplasia (HP:0002539)2.19886008
62Abnormality of salivation (HP:0100755)2.19657779
63Visual hallucinations (HP:0002367)2.19061417
64Epileptiform EEG discharges (HP:0011182)2.16859873
65Hypomagnesemia (HP:0002917)2.16464725
66Medial flaring of the eyebrow (HP:0010747)2.15766978
67Retinal dysplasia (HP:0007973)2.13804813
68Lower limb muscle weakness (HP:0007340)2.13255867
69Pancreatic cysts (HP:0001737)2.12740602
70Amblyopia (HP:0000646)2.12529960
71Morphological abnormality of the inner ear (HP:0011390)2.12444252
72Progressive inability to walk (HP:0002505)2.11970642
73Molar tooth sign on MRI (HP:0002419)2.11357239
74Abnormality of midbrain morphology (HP:0002418)2.11357239
75Congenital primary aphakia (HP:0007707)2.11022422
76Morphological abnormality of the middle ear (HP:0008609)2.09647265
77Shawl scrotum (HP:0000049)2.08756396
78Anxiety (HP:0000739)2.08030328
79EEG with generalized epileptiform discharges (HP:0011198)2.07483232
80Nephrogenic diabetes insipidus (HP:0009806)2.06777951
81Coronal craniosynostosis (HP:0004440)2.06756592
82Impaired social interactions (HP:0000735)2.05416959
83Abnormal social behavior (HP:0012433)2.05416959
84Obstructive sleep apnea (HP:0002870)2.04452560
85Fetal akinesia sequence (HP:0001989)2.04077749
86Renal hypoplasia (HP:0000089)2.03551774
87Urinary urgency (HP:0000012)2.02891200
88Abnormality of the renal medulla (HP:0100957)2.02297129
89Hypsarrhythmia (HP:0002521)2.02190513
90Mutism (HP:0002300)2.01745843
91Gaze-evoked nystagmus (HP:0000640)2.01695815
92Absent/shortened dynein arms (HP:0200106)2.01574360
93Dynein arm defect of respiratory motile cilia (HP:0012255)2.01574360
94Abnormality of the aortic arch (HP:0012303)2.00268001
95Stereotypic behavior (HP:0000733)1.99865549
96Anophthalmia (HP:0000528)1.99248853
97Peripheral hypomyelination (HP:0007182)1.98674752
98Postaxial hand polydactyly (HP:0001162)1.97448899
99Urinary bladder sphincter dysfunction (HP:0002839)1.97414418
100Renal dysplasia (HP:0000110)1.97103662
101Cutaneous syndactyly (HP:0012725)1.97049575
102Gait imbalance (HP:0002141)1.97003061
103Polyphagia (HP:0002591)1.96978566
104Intention tremor (HP:0002080)1.96948521
105Truncal ataxia (HP:0002078)1.96697060
106Abnormality of binocular vision (HP:0011514)1.96575316
107Diplopia (HP:0000651)1.96575316
108Specific learning disability (HP:0001328)1.96287793
109Partial agenesis of the corpus callosum (HP:0001338)1.95492426
110Blue irides (HP:0000635)1.95042241
111Pheochromocytoma (HP:0002666)1.94989636
112Neonatal short-limb short stature (HP:0008921)1.94785736
113Genital tract atresia (HP:0001827)1.94177414
114Tented upper lip vermilion (HP:0010804)1.92782143
115Pachygyria (HP:0001302)1.92664342
116Gastroesophageal reflux (HP:0002020)1.91755157
117Abnormality of the septum pellucidum (HP:0007375)1.91593266
118Intestinal atresia (HP:0011100)1.91580306
119Esophageal atresia (HP:0002032)1.91219370
120Type II lissencephaly (HP:0007260)1.91003458
121Vitreoretinal degeneration (HP:0000655)1.90214063
122Scanning speech (HP:0002168)1.89309812
123Vaginal atresia (HP:0000148)1.88907980
124Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.88496378
125Facial hemangioma (HP:0000329)1.87810451
126Hemiplegia (HP:0002301)1.87482998
127Gastrointestinal atresia (HP:0002589)1.86351538
128Hypoplasia of the corpus callosum (HP:0002079)1.86069603
129Hemivertebrae (HP:0002937)1.84963602
130Exotropia (HP:0000577)1.84818352
131Abnormality of the middle phalanges of the toes (HP:0010183)1.82039240
132Inability to walk (HP:0002540)1.81118971
133Protruding tongue (HP:0010808)1.80776589
134Cutaneous finger syndactyly (HP:0010554)1.80627408
135Postaxial foot polydactyly (HP:0001830)1.80428326
136Abnormality of the lower motor neuron (HP:0002366)1.80028740
137Cystic liver disease (HP:0006706)1.79919506
138Optic nerve hypoplasia (HP:0000609)1.78442965
139High anterior hairline (HP:0009890)1.78356038
140Midline defect of the nose (HP:0004122)1.78263712
141Anencephaly (HP:0002323)1.77478432
142Clumsiness (HP:0002312)1.74997924
143Mixed hearing impairment (HP:0000410)1.74935591
144Hypokalemic alkalosis (HP:0001949)1.74398428
145Lissencephaly (HP:0001339)1.73432554
146Depression (HP:0000716)1.72656582
147Sleep apnea (HP:0010535)1.72198594
148Anteriorly placed anus (HP:0001545)1.72101063
149Hypoplasia of the brainstem (HP:0002365)1.71516920
150Aplasia/Hypoplasia of the brainstem (HP:0007362)1.71516920
151Poor coordination (HP:0002370)1.70825419
152Genetic anticipation (HP:0003743)1.70744908
153Autism (HP:0000717)1.69813964
154Turricephaly (HP:0000262)1.69808453
155Abnormality of the antihelix (HP:0009738)1.69790918
156Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.68348703
157Narrow forehead (HP:0000341)1.66025122
158Abnormality of the metopic suture (HP:0005556)1.65027049

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.46769898
2MARK14.34807826
3CASK4.31741939
4NTRK33.01394616
5NTRK22.43100876
6OXSR12.28972002
7TNIK2.27737675
8PRPF4B2.22550495
9MAP3K42.09771463
10MAPK152.06063461
11MAPK132.04787305
12MAP2K72.00071330
13STK391.84218763
14CDK191.82763924
15PAK61.75772389
16MINK11.64236678
17PRKD31.58007200
18MAP3K91.54391814
19EPHA31.53231169
20DAPK21.49951161
21PHKG21.49487996
22PHKG11.49487996
23WNK31.47751397
24PKN11.44405772
25PINK11.43932444
26UHMK11.43140568
27KSR11.39886577
28EPHB21.39681843
29SIK21.39672258
30CDK51.36239719
31TYRO31.35853832
32PNCK1.34935809
33SGK2231.34324287
34SGK4941.34324287
35DYRK21.27303309
36NTRK11.21897998
37PLK21.19878268
38FGFR21.11530155
39BCR1.07245925
40CAMK2B1.03756002
41MKNK21.01910201
42CAMK2A0.99154719
43WNK40.97469645
44CSNK1G20.97422587
45FGR0.97401128
46FES0.96621100
47NEK60.95535156
48DYRK1A0.91255532
49PRKCG0.90695123
50MAP2K40.90592845
51CDK180.86628106
52MAP4K20.85948967
53CDK150.85453888
54MUSK0.85276994
55CDK140.82564464
56TRIM280.81999358
57SGK20.81546267
58MARK20.80779046
59CSNK1A1L0.79871412
60CDK11A0.78654054
61ROCK20.78303516
62PAK30.77856024
63CSNK1G30.76817000
64DYRK1B0.74848949
65STK110.74627483
66MAP3K120.71029212
67PRKCE0.69608801
68RIPK40.66854030
69SGK10.65917408
70MKNK10.62818501
71CCNB10.62505310
72CAMKK10.60048481
73ERBB20.59951302
74DDR20.58939494
75CAMK40.58113391
76GRK50.57749468
77PRKCZ0.55199907
78WEE10.55171024
79LMTK20.54155097
80PRKCH0.54144313
81DAPK10.54126008
82MOS0.54042642
83SGK30.53941611
84CSNK1G10.53703036
85KSR20.53142264
86BMPR20.52586220
87FYN0.50975183
88BMPR1B0.50599996
89LIMK10.50582847
90ICK0.50209988
91CDK30.49755571
92CAMK1G0.47980515
93CAMK2D0.47645496
94CAMKK20.46854942
95ADRBK20.46255734
96WNK10.45959547
97LATS20.45045982
98ROCK10.44882147
99ERBB30.44515261
100MAPKAPK50.44429600
101IRAK20.43333806
102MAPK100.42588064
103PTK2B0.42028585
104YES10.41782924
105CSNK1A10.40465815
106CSNK1D0.40332984
107PRKG10.39332399
108DMPK0.39325212
109NME10.38872625
110CLK10.38507283
111CAMK10.38279101
112CAMK2G0.37972579
113INSRR0.37830768
114ERBB40.37413119
115AKT30.37330769
116RPS6KA30.37247119
117RPS6KA40.36611452
118CSNK1E0.36369239
119DYRK30.36148306
120PRKDC0.34309237
121PRKACA0.32835338
122CAMK1D0.30353863
123GSK3B0.30223609
124NEK20.29619213
125VRK10.28325578
126FRK0.27651764

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.56509320
2Glutamatergic synapse_Homo sapiens_hsa047242.70951230
3GABAergic synapse_Homo sapiens_hsa047272.60177754
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.52271969
5Morphine addiction_Homo sapiens_hsa050322.39802138
6Circadian entrainment_Homo sapiens_hsa047132.39067826
7Synaptic vesicle cycle_Homo sapiens_hsa047212.29955031
8Axon guidance_Homo sapiens_hsa043602.23242757
9Olfactory transduction_Homo sapiens_hsa047402.08494823
10Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.01150898
11Long-term potentiation_Homo sapiens_hsa047201.97415193
12Salivary secretion_Homo sapiens_hsa049701.94479792
13Dopaminergic synapse_Homo sapiens_hsa047281.92923339
14Amphetamine addiction_Homo sapiens_hsa050311.91079530
15Serotonergic synapse_Homo sapiens_hsa047261.87611873
16Long-term depression_Homo sapiens_hsa047301.77416442
17Gastric acid secretion_Homo sapiens_hsa049711.73176549
18Cocaine addiction_Homo sapiens_hsa050301.72157233
19Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.71745462
20Cholinergic synapse_Homo sapiens_hsa047251.69327117
21Taste transduction_Homo sapiens_hsa047421.66448011
22Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.56243255
23Insulin secretion_Homo sapiens_hsa049111.53394330
24Renin secretion_Homo sapiens_hsa049241.52248148
25Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.42530897
26Gap junction_Homo sapiens_hsa045401.39712675
27Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.39684843
28Nitrogen metabolism_Homo sapiens_hsa009101.37756437
29Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.37258226
30Calcium signaling pathway_Homo sapiens_hsa040201.37002421
31Oxytocin signaling pathway_Homo sapiens_hsa049211.31333965
32Collecting duct acid secretion_Homo sapiens_hsa049661.28780227
33Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.25196490
34Aldosterone synthesis and secretion_Homo sapiens_hsa049251.25131759
35Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.21960882
36ErbB signaling pathway_Homo sapiens_hsa040121.21675441
37Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.20195245
38Phototransduction_Homo sapiens_hsa047441.19409946
39Melanogenesis_Homo sapiens_hsa049161.16780843
40cAMP signaling pathway_Homo sapiens_hsa040241.14278149
41GnRH signaling pathway_Homo sapiens_hsa049121.07983449
42Glioma_Homo sapiens_hsa052141.05909420
43Dorso-ventral axis formation_Homo sapiens_hsa043201.05649357
44Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.04864203
45Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.03232821
46Phospholipase D signaling pathway_Homo sapiens_hsa040720.98812733
47Steroid biosynthesis_Homo sapiens_hsa001000.98373457
48Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.97517555
49Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.97140739
50Ether lipid metabolism_Homo sapiens_hsa005650.96664252
51Butanoate metabolism_Homo sapiens_hsa006500.91013242
52Hedgehog signaling pathway_Homo sapiens_hsa043400.90971454
53Notch signaling pathway_Homo sapiens_hsa043300.90126755
54Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.89822638
55Wnt signaling pathway_Homo sapiens_hsa043100.89513142
56Choline metabolism in cancer_Homo sapiens_hsa052310.87663822
57Basal cell carcinoma_Homo sapiens_hsa052170.87473958
58Estrogen signaling pathway_Homo sapiens_hsa049150.86671590
59Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.85874118
60Ras signaling pathway_Homo sapiens_hsa040140.84588329
61Vascular smooth muscle contraction_Homo sapiens_hsa042700.84142283
62cGMP-PKG signaling pathway_Homo sapiens_hsa040220.83480212
63Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.82989777
64Phosphatidylinositol signaling system_Homo sapiens_hsa040700.80466158
65Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.76398719
66Cardiac muscle contraction_Homo sapiens_hsa042600.75956251
67Renal cell carcinoma_Homo sapiens_hsa052110.75565925
68Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.74349717
69Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.72709189
70Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.72264454
71Sphingolipid signaling pathway_Homo sapiens_hsa040710.71810015
72MAPK signaling pathway_Homo sapiens_hsa040100.71241853
73Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.69780777
74Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.67640769
75Rap1 signaling pathway_Homo sapiens_hsa040150.67212042
76Vibrio cholerae infection_Homo sapiens_hsa051100.66255175
77Bile secretion_Homo sapiens_hsa049760.65151028
78Propanoate metabolism_Homo sapiens_hsa006400.65098123
79Pancreatic secretion_Homo sapiens_hsa049720.64968316
80Circadian rhythm_Homo sapiens_hsa047100.61822922
81Type II diabetes mellitus_Homo sapiens_hsa049300.61532167
82Fatty acid elongation_Homo sapiens_hsa000620.60687383
83Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.59912674
84Fatty acid biosynthesis_Homo sapiens_hsa000610.58710390
85Prion diseases_Homo sapiens_hsa050200.58229772
86Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.57790634
87alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.56540405
88beta-Alanine metabolism_Homo sapiens_hsa004100.55834000
89Fanconi anemia pathway_Homo sapiens_hsa034600.55619739
90Endometrial cancer_Homo sapiens_hsa052130.53339379
91Oocyte meiosis_Homo sapiens_hsa041140.53020283
92Alcoholism_Homo sapiens_hsa050340.52695698
93Dilated cardiomyopathy_Homo sapiens_hsa054140.52380593
94Hippo signaling pathway_Homo sapiens_hsa043900.52170587
95Protein export_Homo sapiens_hsa030600.52111687
96Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.51601932
97Tight junction_Homo sapiens_hsa045300.51112315
98Ovarian steroidogenesis_Homo sapiens_hsa049130.50349513
99Alzheimers disease_Homo sapiens_hsa050100.49820820
100Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.49665192
101Sphingolipid metabolism_Homo sapiens_hsa006000.48408571
102Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.46030816
103Thyroid hormone synthesis_Homo sapiens_hsa049180.45779315
104Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.44228716
105African trypanosomiasis_Homo sapiens_hsa051430.43355301
106AMPK signaling pathway_Homo sapiens_hsa041520.42477686
107Endocytosis_Homo sapiens_hsa041440.42168469
108SNARE interactions in vesicular transport_Homo sapiens_hsa041300.41831474
109Thyroid hormone signaling pathway_Homo sapiens_hsa049190.40687579
110Melanoma_Homo sapiens_hsa052180.40478103
111Linoleic acid metabolism_Homo sapiens_hsa005910.40108389
112VEGF signaling pathway_Homo sapiens_hsa043700.38845749
113Mineral absorption_Homo sapiens_hsa049780.38588030
114Carbohydrate digestion and absorption_Homo sapiens_hsa049730.38520538
115Regulation of actin cytoskeleton_Homo sapiens_hsa048100.38033312
116MicroRNAs in cancer_Homo sapiens_hsa052060.37436657
117Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.36975730
118Neurotrophin signaling pathway_Homo sapiens_hsa047220.35094653
119Colorectal cancer_Homo sapiens_hsa052100.35010657

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