POU4F3

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 POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neurofilament cytoskeleton organization (GO:0060052)8.22037175
2detection of temperature stimulus (GO:0016048)7.74499859
3detection of temperature stimulus involved in sensory perception (GO:0050961)7.21345998
4detection of temperature stimulus involved in sensory perception of pain (GO:0050965)7.21345998
5cell migration in hindbrain (GO:0021535)6.76064177
6negative regulation of dendrite morphogenesis (GO:0050774)5.89504225
7negative regulation of calcium ion transport into cytosol (GO:0010523)5.78381919
8synaptic vesicle exocytosis (GO:0016079)5.60816702
9peripheral nervous system neuron development (GO:0048935)5.08990144
10innervation (GO:0060384)4.48502703
11neuronal action potential propagation (GO:0019227)4.44241274
12neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)4.42769780
13glutamate secretion (GO:0014047)4.21570890
14regulation of short-term neuronal synaptic plasticity (GO:0048172)4.20508519
15negative regulation of homotypic cell-cell adhesion (GO:0034111)4.13994620
16mitochondrion transport along microtubule (GO:0047497)4.02906388
17establishment of mitochondrion localization, microtubule-mediated (GO:0034643)4.02906388
18establishment of mitochondrion localization (GO:0051654)4.01197040
19* mechanoreceptor differentiation (GO:0042490)4.00326415
20neuron fate specification (GO:0048665)3.99900461
21calcium-mediated signaling using intracellular calcium source (GO:0035584)3.97376014
22detection of mechanical stimulus involved in sensory perception (GO:0050974)3.95517470
23negative regulation of dendrite development (GO:2000171)3.94015298
24negative regulation of microtubule polymerization (GO:0031115)3.83528946
25membrane repolarization during cardiac muscle cell action potential (GO:0086013)3.80802611
26pentose metabolic process (GO:0019321)3.79528538
27righting reflex (GO:0060013)3.72587266
28synaptic vesicle maturation (GO:0016188)3.69716806
29axon development (GO:0061564)3.60798598
30intermediate filament organization (GO:0045109)3.60674137
31detection of mechanical stimulus (GO:0050982)3.52508470
32regulation of cardioblast proliferation (GO:0003264)3.52474684
33regulation of secondary heart field cardioblast proliferation (GO:0003266)3.52474684
34* sensory perception of mechanical stimulus (GO:0050954)3.47753725
35* auditory receptor cell differentiation (GO:0042491)3.46163930
36establishment or maintenance of monopolar cell polarity (GO:0061339)3.45843985
37establishment of monopolar cell polarity (GO:0061162)3.45843985
38* sensory perception of sound (GO:0007605)3.40234459
39axon cargo transport (GO:0008088)3.40029714
40neuronal action potential (GO:0019228)3.37471271
41membrane repolarization during action potential (GO:0086011)3.35207764
42endocardial cushion morphogenesis (GO:0003203)3.34350151
43negative regulation of Ras GTPase activity (GO:0034261)3.32741294
44protein polyglutamylation (GO:0018095)3.24271843
45axon regeneration (GO:0031103)3.22392027
46proline transport (GO:0015824)3.22216033
47* cranial nerve development (GO:0021545)3.21748532
48positive regulation of potassium ion transmembrane transport (GO:1901381)3.21505386
49regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.18338898
50negative regulation of synaptic transmission, GABAergic (GO:0032229)3.17933786
51cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.15252246
52* retinal ganglion cell axon guidance (GO:0031290)3.12762045
53regulation of translational termination (GO:0006449)3.10541955
54membrane depolarization during action potential (GO:0086010)3.09007396
55cerebellar Purkinje cell differentiation (GO:0021702)3.06039080
56regulation of synaptic vesicle exocytosis (GO:2000300)3.05675468
57response to gravity (GO:0009629)3.04211563
58* nerve development (GO:0021675)3.02508770
59positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.00898791
60cell communication involved in cardiac conduction (GO:0086065)2.99699702
61negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.98804512
62membrane repolarization (GO:0086009)2.96997490
63positive regulation of axon extension (GO:0045773)2.96225849
64* neuromuscular process controlling balance (GO:0050885)2.96218624
65potassium ion export (GO:0071435)2.95538271
66diterpenoid biosynthetic process (GO:0016102)2.94426870
67regulation of protein heterodimerization activity (GO:0043497)2.94221015
68response to acidic pH (GO:0010447)2.92945334
69cell communication by electrical coupling (GO:0010644)2.91224890
70detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.90117601
71organelle transport along microtubule (GO:0072384)2.89970514
72layer formation in cerebral cortex (GO:0021819)2.88532356
73enteric nervous system development (GO:0048484)2.85023790
74peristalsis (GO:0030432)2.84107402
75regulation of platelet aggregation (GO:0090330)2.83557230
76* axon extension (GO:0048675)2.82067244
77response to pain (GO:0048265)2.81617626
78negative regulation of heart rate (GO:0010459)2.79249897
79generation of neurons (GO:0048699)2.78393360
80transmission of nerve impulse (GO:0019226)2.78072447
81inositol phosphate catabolic process (GO:0071545)2.72684083
82negative regulation of cardiac muscle cell apoptotic process (GO:0010667)2.71967623
83regulation of membrane repolarization (GO:0060306)2.71156271
84regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.68577791
85cellular response to ATP (GO:0071318)2.67096204
86negative regulation of glial cell proliferation (GO:0060253)2.66523279
87protein localization to synapse (GO:0035418)2.66417365
88positive regulation of potassium ion transport (GO:0043268)2.64433626
89membrane budding (GO:0006900)2.63352581
90intermediate filament cytoskeleton organization (GO:0045104)2.62819589
91peripheral nervous system development (GO:0007422)2.62395981
92plasma membrane repair (GO:0001778)2.61890120
93negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.61821912
94vesicle transport along microtubule (GO:0047496)2.61661820
95intermediate filament-based process (GO:0045103)2.61327322
96phasic smooth muscle contraction (GO:0014821)2.60458117
97negative regulation of cation channel activity (GO:2001258)2.60116269
98metanephric mesenchyme development (GO:0072075)2.59818651
99regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.57291699
100positive regulation of steroid hormone secretion (GO:2000833)2.56626466

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human3.74172118
2* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.07482094
3* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.02945926
4* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.82516748
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.81456702
6* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.78287883
7* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.78287883
8* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.69389978
9* BMI1_23680149_ChIP-Seq_NPCS_Mouse2.62249775
10* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.51639050
11* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.40262844
12* EZH2_27294783_Chip-Seq_ESCs_Mouse2.38911186
13* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.38319543
14NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.37536786
15* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.31178825
16* RNF2_27304074_Chip-Seq_ESCs_Mouse2.24074129
17AR_21572438_ChIP-Seq_LNCaP_Human2.21971871
18* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.21559199
19* REST_21632747_ChIP-Seq_MESCs_Mouse2.10746866
20GBX2_23144817_ChIP-Seq_PC3_Human2.06616890
21* EED_16625203_ChIP-ChIP_MESCs_Mouse2.06542416
22* EZH2_27304074_Chip-Seq_ESCs_Mouse2.01453031
23ERG_21242973_ChIP-ChIP_JURKAT_Human1.87752899
24REST_18959480_ChIP-ChIP_MESCs_Mouse1.82521525
25NR3C1_23031785_ChIP-Seq_PC12_Mouse1.68613732
26CTBP2_25329375_ChIP-Seq_LNCAP_Human1.68473066
27AHR_22903824_ChIP-Seq_MCF-7_Human1.62808110
28TRIM28_21343339_ChIP-Seq_HEK293_Human1.62650947
29* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.62531652
30DROSHA_22980978_ChIP-Seq_HELA_Human1.61014488
31TAF15_26573619_Chip-Seq_HEK293_Human1.60903958
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.59652917
33PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.57292560
34CTCF_27219007_Chip-Seq_Bcells_Human1.52983524
35ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.52821521
36NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.50025892
37ESR2_21235772_ChIP-Seq_MCF-7_Human1.49975290
38IGF1R_20145208_ChIP-Seq_DFB_Human1.47972588
39EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.46597047
40ZFP281_18757296_ChIP-ChIP_E14_Mouse1.46040770
41ZNF274_21170338_ChIP-Seq_K562_Hela1.45839634
42ARNT_22903824_ChIP-Seq_MCF-7_Human1.41620811
43TOP2B_26459242_ChIP-Seq_MCF-7_Human1.41507342
44ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.40207565
45P300_19829295_ChIP-Seq_ESCs_Human1.39373772
46* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.38932458
47OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.38173658
48WT1_19549856_ChIP-ChIP_CCG9911_Human1.38131265
49* RING1B_27294783_Chip-Seq_ESCs_Mouse1.37670389
50KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.34288176
51KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.34288176
52KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.34288176
53* RING1B_27294783_Chip-Seq_NPCs_Mouse1.31999626
54SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31699609
55PIAS1_25552417_ChIP-Seq_VCAP_Human1.31555720
56ZNF217_24962896_ChIP-Seq_MCF-7_Human1.31446221
57* TP53_20018659_ChIP-ChIP_R1E_Mouse1.29655278
58SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.27534787
59WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.26845556
60ESR1_20079471_ChIP-ChIP_T-47D_Human1.26651409
61* SMAD4_21799915_ChIP-Seq_A2780_Human1.26511948
62TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.25957240
63KDM2B_26808549_Chip-Seq_K562_Human1.22318515
64CDX2_19796622_ChIP-Seq_MESCs_Mouse1.18457070
65SOX2_21211035_ChIP-Seq_LN229_Gbm1.17943392
66TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16964390
67RNF2_27304074_Chip-Seq_NSC_Mouse1.16732829
68SMAD3_21741376_ChIP-Seq_ESCs_Human1.14230867
69TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.13665579
70POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.13463294
71SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.13040455
72ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.12282020
73OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.11219349
74WT1_25993318_ChIP-Seq_PODOCYTE_Human1.10335544
75TP53_18474530_ChIP-ChIP_U2OS_Human1.10025137
76RARB_27405468_Chip-Seq_BRAIN_Mouse1.08183988
77AR_25329375_ChIP-Seq_VCAP_Human1.07806185
78* CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.05339105
79SMAD3_21741376_ChIP-Seq_EPCs_Human1.03923973
80* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.02940737
81KLF5_20875108_ChIP-Seq_MESCs_Mouse1.02749078
82VDR_22108803_ChIP-Seq_LS180_Human1.02602092
83* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.01755926
84* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.01740051
85KDM2B_26808549_Chip-Seq_REH_Human0.99833761
86TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.99206964
87ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.97419556
88STAT3_23295773_ChIP-Seq_U87_Human0.97392528
89GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.97185479
90EP300_21415370_ChIP-Seq_HL-1_Mouse0.97094237
91TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.95911023
92POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.95845215
93TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95845215
94YAP1_20516196_ChIP-Seq_MESCs_Mouse0.95187402
95CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.93744876
96TCF4_22108803_ChIP-Seq_LS180_Human0.93285472
97RARG_19884340_ChIP-ChIP_MEFs_Mouse0.92590179
98* AR_19668381_ChIP-Seq_PC3_Human0.91201107
99SMAD4_21741376_ChIP-Seq_HESCs_Human0.91028958
100UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.90324835

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003879_abnormal_hair_cell7.02738792
2MP0003878_abnormal_ear_physiology5.94434622
3MP0005377_hearing/vestibular/ear_phenot5.94434622
4MP0002735_abnormal_chemical_nociception5.67588929
5* MP0001485_abnormal_pinna_reflex4.98613059
6MP0004858_abnormal_nervous_system3.65603930
7MP0004270_analgesia3.58998541
8* MP0006276_abnormal_autonomic_nervous3.53515903
9MP0001968_abnormal_touch/_nociception3.35525306
10MP0001986_abnormal_taste_sensitivity3.11164984
11* MP0000026_abnormal_inner_ear3.04690736
12MP0002736_abnormal_nociception_after2.93686252
13* MP0001963_abnormal_hearing_physiology2.92211155
14MP0004859_abnormal_synaptic_plasticity2.43573304
15MP0002734_abnormal_mechanical_nocicepti2.43557920
16MP0002751_abnormal_autonomic_nervous2.37398042
17* MP0001486_abnormal_startle_reflex2.36552726
18MP0002733_abnormal_thermal_nociception2.35266976
19MP0001970_abnormal_pain_threshold2.04180043
20* MP0002184_abnormal_innervation1.97527630
21MP0003880_abnormal_central_pattern1.88724168
22MP0001348_abnormal_lacrimal_gland1.88275980
23MP0002272_abnormal_nervous_system1.83322045
24MP0002067_abnormal_sensory_capabilities1.81282687
25MP0005248_abnormal_Harderian_gland1.53628507
26* MP0002752_abnormal_somatic_nervous1.53593188
27* MP0004742_abnormal_vestibular_system1.46446889
28MP0002653_abnormal_ependyma_morphology1.42754968
29MP0003635_abnormal_synaptic_transmissio1.39765681
30* MP0002882_abnormal_neuron_morphology1.39200739
31MP0000534_abnormal_ureter_morphology1.38649713
32MP0009046_muscle_twitch1.38498236
33MP0004811_abnormal_neuron_physiology1.34205752
34* MP0002229_neurodegeneration1.34125374
35MP0004147_increased_porphyrin_level1.32848088
36MP0000955_abnormal_spinal_cord1.29112468
37MP0004885_abnormal_endolymph1.17608076
38MP0002063_abnormal_learning/memory/cond1.14638322
39MP0001440_abnormal_grooming_behavior1.14294833
40MP0000778_abnormal_nervous_system1.07044145
41MP0001849_ear_inflammation1.02052805
42MP0002572_abnormal_emotion/affect_behav1.01252544
43MP0005623_abnormal_meninges_morphology0.98203340
44MP0009379_abnormal_foot_pigmentation0.96830360
45MP0009745_abnormal_behavioral_response0.96371351
46MP0002557_abnormal_social/conspecific_i0.93424303
47MP0009780_abnormal_chondrocyte_physiolo0.92942709
48MP0003329_amyloid_beta_deposits0.89582496
49MP0002064_seizures0.81699547
50MP0003942_abnormal_urinary_system0.80672598
51* MP0002066_abnormal_motor_capabilities/c0.80361580
52MP0008789_abnormal_olfactory_epithelium0.77615414
53MP0001299_abnormal_eye_distance/0.72084508
54MP0004142_abnormal_muscle_tone0.71078537
55MP0000762_abnormal_tongue_morphology0.68816399
56MP0000751_myopathy0.66730717
57MP0001727_abnormal_embryo_implantation0.64906457
58MP0008569_lethality_at_weaning0.64566808
59MP0001270_distended_abdomen0.63496341
60MP0002233_abnormal_nose_morphology0.62177525
61MP0003634_abnormal_glial_cell0.61532431
62MP0000372_irregular_coat_pigmentation0.61117526
63MP0004924_abnormal_behavior0.57015967
64MP0005386_behavior/neurological_phenoty0.57015967
65MP0004085_abnormal_heartbeat0.55460009
66MP0006072_abnormal_retinal_apoptosis0.55036306
67MP0010386_abnormal_urinary_bladder0.53773800
68MP0001984_abnormal_olfaction0.53509185
69MP0001346_abnormal_lacrimal_gland0.51837499
70MP0004145_abnormal_muscle_electrophysio0.50208189
71MP0010234_abnormal_vibrissa_follicle0.48407163
72MP0003861_abnormal_nervous_system0.47984883
73MP0003941_abnormal_skin_development0.47563211
74MP0002277_abnormal_respiratory_mucosa0.46273582
75MP0009250_abnormal_appendicular_skeleto0.45262413
76MP0002152_abnormal_brain_morphology0.45143597
77MP0002089_abnormal_postnatal_growth/wei0.44622021
78MP0001340_abnormal_eyelid_morphology0.44009448
79MP0005195_abnormal_posterior_eye0.43826199
80MP0008775_abnormal_heart_ventricle0.43350408
81MP0001943_abnormal_respiration0.42149651
82MP0000613_abnormal_salivary_gland0.40412157
83* MP0001502_abnormal_circadian_rhythm0.40198479
84MP0003633_abnormal_nervous_system0.40006516
85MP0002972_abnormal_cardiac_muscle0.39938748
86MP0003137_abnormal_impulse_conducting0.39265810
87MP0005394_taste/olfaction_phenotype0.38582059
88MP0005499_abnormal_olfactory_system0.38582059
89MP0002638_abnormal_pupillary_reflex0.38487363
90MP0000427_abnormal_hair_cycle0.37602585
91MP0000049_abnormal_middle_ear0.36221076
92MP0002160_abnormal_reproductive_system0.34894145
93MP0004484_altered_response_of0.34738587
94MP0000537_abnormal_urethra_morphology0.34302222
95MP0008260_abnormal_autophagy0.34251025
96MP0003631_nervous_system_phenotype0.33137491
97MP0010030_abnormal_orbit_morphology0.33014599
98MP0003656_abnormal_erythrocyte_physiolo0.32426376
99MP0000604_amyloidosis0.32301472
100MP0001542_abnormal_bone_strength0.32255112

Predicted human phenotypes

RankGene SetZ-score
1Ulnar claw (HP:0001178)7.95564574
2Myokymia (HP:0002411)7.15242777
3Abnormal auditory evoked potentials (HP:0006958)5.51370084
4Action tremor (HP:0002345)5.21730986
5Termporal pattern (HP:0011008)4.33927572
6Insidious onset (HP:0003587)4.33927572
7Segmental peripheral demyelination/remyelination (HP:0003481)4.04584944
8Pheochromocytoma (HP:0002666)3.96000585
9Hypothermia (HP:0002045)3.88868786
10Foot dorsiflexor weakness (HP:0009027)3.60803320
11Supranuclear gaze palsy (HP:0000605)3.58275800
12Steppage gait (HP:0003376)3.57949923
13Neuroendocrine neoplasm (HP:0100634)3.55448405
14Ventricular fibrillation (HP:0001663)3.44086092
15Hammertoe (HP:0001765)3.40403163
16Irregular epiphyses (HP:0010582)3.27701486
17Abnormality of pain sensation (HP:0010832)3.25685186
18Impaired pain sensation (HP:0007328)3.25685186
19Abnormality of the foot musculature (HP:0001436)3.23157258
20Decreased number of peripheral myelinated nerve fibers (HP:0003380)3.14872156
21Decreased motor nerve conduction velocity (HP:0003431)3.13385841
22Febrile seizures (HP:0002373)3.13147182
23Focal motor seizures (HP:0011153)3.05012598
24Vitreoretinal degeneration (HP:0000655)3.04550604
25Hypoventilation (HP:0002791)3.00967265
26Epiphyseal dysplasia (HP:0002656)2.97965977
27Myotonia (HP:0002486)2.97574777
28Congenital sensorineural hearing impairment (HP:0008527)2.91515221
29Severe Myopia (HP:0011003)2.82311996
30Atonic seizures (HP:0010819)2.80832804
31Distal sensory impairment (HP:0002936)2.75101505
32Onion bulb formation (HP:0003383)2.70302109
33Focal seizures (HP:0007359)2.56381662
34Ankle clonus (HP:0011448)2.56378587
35Hypercortisolism (HP:0001578)2.55782693
36Bradycardia (HP:0001662)2.52844296
37Failure to thrive in infancy (HP:0001531)2.51531613
38Dysautonomia (HP:0002459)2.51282337
39Abnormality of the corticospinal tract (HP:0002492)2.46416289
40Urinary urgency (HP:0000012)2.44654578
41Autoamputation (HP:0001218)2.44440009
42Progressive cerebellar ataxia (HP:0002073)2.43698218
43Abnormality of the ischium (HP:0003174)2.38314952
44Neoplasm of the peripheral nervous system (HP:0100007)2.37676389
45Distal lower limb muscle weakness (HP:0009053)2.31672441
46Abnormal eating behavior (HP:0100738)2.30828445
47Chin dimple (HP:0010751)2.27583599
48Lip pit (HP:0100267)2.26078206
49Lower limb asymmetry (HP:0100559)2.24843972
50Visual hallucinations (HP:0002367)2.22413050
51Hypoplasia of the brainstem (HP:0002365)2.22301007
52Aplasia/Hypoplasia of the brainstem (HP:0007362)2.22301007
53Thyroid carcinoma (HP:0002890)2.21115808
54Distal arthrogryposis (HP:0005684)2.17503557
55Spastic gait (HP:0002064)2.16796490
56Submucous cleft hard palate (HP:0000176)2.14271262
57Abnormal hemoglobin (HP:0011902)2.12728114
58Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.10937631
59Optic nerve hypoplasia (HP:0000609)2.10502919
60Down-sloping shoulders (HP:0200021)2.10471103
61Metaphyseal dysplasia (HP:0100255)2.09684395
62Prolonged QT interval (HP:0001657)2.09027023
63Camptodactyly of toe (HP:0001836)2.07953137
64Hyporeflexia of lower limbs (HP:0002600)2.06691706
65Akinesia (HP:0002304)2.04724669
66Absence seizures (HP:0002121)2.04444429
67Abnormality of the vitreous humor (HP:0004327)2.01432954
68Absent rod-and cone-mediated responses on ERG (HP:0007688)1.97448900
69Long toe (HP:0010511)1.95601859
70Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.94675522
71Degeneration of the lateral corticospinal tracts (HP:0002314)1.94675522
72Knee flexion contracture (HP:0006380)1.92134544
73Menstrual irregularities (HP:0000858)1.91599252
74Abnormality of the vocal cords (HP:0008777)1.90590129
75Anosmia (HP:0000458)1.90083128
76Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.88787206
77Annular pancreas (HP:0001734)1.86542227
78Potter facies (HP:0002009)1.86033033
79Facial shape deformation (HP:0011334)1.86033033
80Generalized tonic-clonic seizures (HP:0002069)1.85610926
81Mixed hearing impairment (HP:0000410)1.85136953
82Distal lower limb amyotrophy (HP:0008944)1.84823499
83Neuroblastoma (HP:0003006)1.80900903
84Primitive neuroectodermal tumor (HP:0030065)1.80900903
85Neuroblastic tumors (HP:0004376)1.80900903
86Peripheral primitive neuroectodermal neoplasm (HP:0030067)1.80900903
87Thoracolumbar scoliosis (HP:0002944)1.80606837
88Delusions (HP:0000746)1.79055105
89Abnormality of the musculature of the hand (HP:0001421)1.78731450
90Abnormality of the pubic bones (HP:0003172)1.76202130
91Lower limb amyotrophy (HP:0007210)1.75943223
92Fragile skin (HP:0001030)1.74888348
93Muscle fibrillation (HP:0010546)1.73305096
94Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.72972027
95Curly hair (HP:0002212)1.72605776
96Areflexia of lower limbs (HP:0002522)1.72086827
97Amblyopia (HP:0000646)1.70614224
98Peripheral hypomyelination (HP:0007182)1.68007728
99Paraplegia (HP:0010550)1.67693077
100Urinary bladder sphincter dysfunction (HP:0002839)1.66928827

Predicted kinase interactions (KEA)

RankGene SetZ-score
1LMTK24.72065578
2NTRK33.94383942
3MINK13.89196753
4CASK3.25418302
5LATS23.23261082
6NTRK13.08355736
7LIMK12.94870773
8MAP3K92.71688570
9EPHA32.71316277
10DDR22.66248386
11SIK32.58023025
12KSR22.35926972
13MAPKAPK32.27578937
14MAP3K22.00881403
15MAP3K121.90714193
16EPHB11.82112478
17PHKG11.69365147
18PHKG21.69365147
19FER1.67294342
20SCYL21.57100823
21GRK51.54120870
22ADRBK21.50841079
23MAPK131.48989997
24MATK1.46115354
25STK391.40993474
26RET1.40737269
27WNK11.30041584
28ARAF1.29877703
29EPHA21.21477800
30PAK61.21181350
31SGK2231.15156591
32SGK4941.15156591
33MAP2K11.14300930
34BCR1.07120154
35RPS6KA21.04344459
36MAP3K41.04119667
37WNK41.01216985
38SGK21.00987452
39TESK10.99391415
40ADRBK10.98634768
41MAP2K40.93850282
42MAP2K70.91884250
43FGFR40.89973542
44UHMK10.88749504
45DYRK20.87836474
46STK38L0.82319426
47PRKCG0.80993780
48RIPK10.80289152
49FGFR30.77669925
50PRKCE0.76305230
51CDK50.76080557
52NEK10.75367873
53MARK10.74871889
54RPS6KB20.74391561
55MAP3K10.72667643
56TRPM70.71998417
57AKT30.71567424
58ALK0.69964295
59DAPK20.69418702
60SGK30.69386189
61KSR10.68518800
62PRKCH0.67137036
63HIPK20.66897696
64MARK30.63837261
65MAPK150.63265668
66MAP2K20.60519330
67IRAK10.59483319
68ROCK20.58851291
69CSNK1A1L0.57568876
70SIK20.56837644
71YES10.55978794
72SIK10.53555134
73PAK30.53410745
74CDK140.53181347
75ERBB40.51621859
76PLK20.50666125
77ERBB20.50184272
78CSNK1E0.48738225
79MST40.47003956
80ROCK10.45691910
81PRKD30.45477831
82CSNK1G20.44723100
83PRPF4B0.43871908
84CSNK1G30.43716711
85STK380.43060094
86PRKG20.41642187
87CDC42BPA0.34878570
88CAMKK10.32851367
89NTRK20.32556275
90MAP2K60.32275834
91EPHB20.31156437
92AURKA0.27499831
93IRAK20.26944655
94CAMK2A0.26200074
95CAMK2G0.26074478
96PRKCZ0.25519846
97PRKACA0.23498724
98PDK40.22969863
99PDK30.22969863
100MAPK100.21872652

Predicted pathways (KEGG)

RankGene SetZ-score
1Vasopressin-regulated water reabsorption_Homo sapiens_hsa049623.49085930
2Synaptic vesicle cycle_Homo sapiens_hsa047213.26225840
3Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.63105612
4Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050142.21510583
5Olfactory transduction_Homo sapiens_hsa047402.16509262
6Thyroid cancer_Homo sapiens_hsa052161.78922215
7Dorso-ventral axis formation_Homo sapiens_hsa043201.78900614
8Neurotrophin signaling pathway_Homo sapiens_hsa047221.68846256
9Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.66164771
10Dopaminergic synapse_Homo sapiens_hsa047281.59475579
11Insulin secretion_Homo sapiens_hsa049111.58216794
12Melanoma_Homo sapiens_hsa052181.55979487
13Phototransduction_Homo sapiens_hsa047441.54103901
14Cholinergic synapse_Homo sapiens_hsa047251.52519862
15Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.50201135
16Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.48211314
17Axon guidance_Homo sapiens_hsa043601.47984313
18Taste transduction_Homo sapiens_hsa047421.44318891
19ErbB signaling pathway_Homo sapiens_hsa040121.42560234
20Oxidative phosphorylation_Homo sapiens_hsa001901.39297276
21Glioma_Homo sapiens_hsa052141.39216633
22Endometrial cancer_Homo sapiens_hsa052131.36989221
23Parkinsons disease_Homo sapiens_hsa050121.36668514
24Melanogenesis_Homo sapiens_hsa049161.28580996
25Cardiac muscle contraction_Homo sapiens_hsa042601.28143527
26Circadian entrainment_Homo sapiens_hsa047131.23942087
27Gastric acid secretion_Homo sapiens_hsa049711.18434613
28Alzheimers disease_Homo sapiens_hsa050101.15525731
29Nicotine addiction_Homo sapiens_hsa050331.15192561
30Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.14636634
31Huntingtons disease_Homo sapiens_hsa050161.12125271
32Insulin signaling pathway_Homo sapiens_hsa049101.12123532
33Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.10730836
34Central carbon metabolism in cancer_Homo sapiens_hsa052301.10310543
35Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.10304934
36Vibrio cholerae infection_Homo sapiens_hsa051101.07653637
37GnRH signaling pathway_Homo sapiens_hsa049121.05904589
38Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.05574560
39Long-term potentiation_Homo sapiens_hsa047201.05071659
40Glutamatergic synapse_Homo sapiens_hsa047241.05044283
41VEGF signaling pathway_Homo sapiens_hsa043701.04867026
42Oocyte meiosis_Homo sapiens_hsa041141.02793578
43Hippo signaling pathway_Homo sapiens_hsa043901.01704370
44Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.01621056
45Gap junction_Homo sapiens_hsa045400.99970589
46Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.99272540
47Colorectal cancer_Homo sapiens_hsa052100.98997347
48Renin secretion_Homo sapiens_hsa049240.96951050
49Prolactin signaling pathway_Homo sapiens_hsa049170.96309465
50Tight junction_Homo sapiens_hsa045300.95593177
51Estrogen signaling pathway_Homo sapiens_hsa049150.94588292
52Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.93856724
53Amphetamine addiction_Homo sapiens_hsa050310.90278538
54Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.89422557
55Non-small cell lung cancer_Homo sapiens_hsa052230.87915287
56GABAergic synapse_Homo sapiens_hsa047270.87424039
57Collecting duct acid secretion_Homo sapiens_hsa049660.84710732
58Serotonergic synapse_Homo sapiens_hsa047260.84362525
59Salivary secretion_Homo sapiens_hsa049700.84177638
60Wnt signaling pathway_Homo sapiens_hsa043100.83032533
61Hedgehog signaling pathway_Homo sapiens_hsa043400.80244699
62Ras signaling pathway_Homo sapiens_hsa040140.80029380
63SNARE interactions in vesicular transport_Homo sapiens_hsa041300.76989204
64Oxytocin signaling pathway_Homo sapiens_hsa049210.76229789
65Aldosterone synthesis and secretion_Homo sapiens_hsa049250.75716445
66MAPK signaling pathway_Homo sapiens_hsa040100.75101909
67Rap1 signaling pathway_Homo sapiens_hsa040150.75010504
68Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.74634177
69Phenylalanine metabolism_Homo sapiens_hsa003600.73986824
70Endocytosis_Homo sapiens_hsa041440.72738831
71Phosphatidylinositol signaling system_Homo sapiens_hsa040700.71363844
72Cocaine addiction_Homo sapiens_hsa050300.70654646
73Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.70442661
74cAMP signaling pathway_Homo sapiens_hsa040240.69226975
75Salmonella infection_Homo sapiens_hsa051320.67709754
76Glucagon signaling pathway_Homo sapiens_hsa049220.67672012
77Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.66415689
78Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.65511658
79Phagosome_Homo sapiens_hsa041450.64189224
80Basal cell carcinoma_Homo sapiens_hsa052170.63087383
81Regulation of autophagy_Homo sapiens_hsa041400.61965952
82Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.61910969
83Morphine addiction_Homo sapiens_hsa050320.59228251
84Pyruvate metabolism_Homo sapiens_hsa006200.58873996
85Protein digestion and absorption_Homo sapiens_hsa049740.58178575
86Type II diabetes mellitus_Homo sapiens_hsa049300.57046275
87Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.54923435
88PI3K-Akt signaling pathway_Homo sapiens_hsa041510.53995578
89Phospholipase D signaling pathway_Homo sapiens_hsa040720.53671047
90Sphingolipid signaling pathway_Homo sapiens_hsa040710.53661407
91mTOR signaling pathway_Homo sapiens_hsa041500.50784825
92Dilated cardiomyopathy_Homo sapiens_hsa054140.50218598
93Hepatitis C_Homo sapiens_hsa051600.49898608
94Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.49861719
95Thyroid hormone signaling pathway_Homo sapiens_hsa049190.48924872
96Steroid biosynthesis_Homo sapiens_hsa001000.48449905
97Calcium signaling pathway_Homo sapiens_hsa040200.48170251
98Prion diseases_Homo sapiens_hsa050200.47357398
99Fatty acid elongation_Homo sapiens_hsa000620.46211815
100Bladder cancer_Homo sapiens_hsa052190.46054704

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