YWHAH

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 product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle exocytosis (GO:0016079)6.14898420
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.12314816
3synaptic vesicle maturation (GO:0016188)6.07581867
4glutamate secretion (GO:0014047)5.96213199
5regulation of synaptic vesicle exocytosis (GO:2000300)5.49598718
6locomotory exploration behavior (GO:0035641)5.42496408
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.41132003
8neuronal action potential propagation (GO:0019227)5.31830424
9synaptic vesicle docking involved in exocytosis (GO:0016081)5.31478103
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.22453442
11vocalization behavior (GO:0071625)5.15743314
12positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.13539667
13regulation of synaptic vesicle transport (GO:1902803)4.96411238
14regulation of glutamate receptor signaling pathway (GO:1900449)4.82384771
15protein localization to synapse (GO:0035418)4.80997258
16ionotropic glutamate receptor signaling pathway (GO:0035235)4.62580499
17neurotransmitter secretion (GO:0007269)4.59716032
18exploration behavior (GO:0035640)4.53681355
19neuron cell-cell adhesion (GO:0007158)4.44011646
20L-amino acid import (GO:0043092)4.40685112
21regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.39045815
22glutamate receptor signaling pathway (GO:0007215)4.27822068
23regulation of neuronal synaptic plasticity (GO:0048168)4.25697519
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.23591134
25cellular potassium ion homeostasis (GO:0030007)4.17056521
26amino acid import (GO:0043090)4.16550158
27potassium ion homeostasis (GO:0055075)4.15844079
28synaptic transmission, glutamatergic (GO:0035249)4.13210522
29proline transport (GO:0015824)4.06854323
30neuron-neuron synaptic transmission (GO:0007270)4.00060743
31regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.88676220
32positive regulation of synapse maturation (GO:0090129)3.87373431
33gamma-aminobutyric acid signaling pathway (GO:0007214)3.85129214
34regulation of excitatory postsynaptic membrane potential (GO:0060079)3.83890504
35neuronal ion channel clustering (GO:0045161)3.83394636
36regulation of synapse structural plasticity (GO:0051823)3.82545201
37cellular sodium ion homeostasis (GO:0006883)3.81740782
38positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.81202020
39activation of protein kinase A activity (GO:0034199)3.78967015
40positive regulation of dendritic spine development (GO:0060999)3.76792837
41positive regulation of dendritic spine morphogenesis (GO:0061003)3.75942656
42layer formation in cerebral cortex (GO:0021819)3.74870312
43synaptic vesicle endocytosis (GO:0048488)3.74097628
44sodium ion export (GO:0071436)3.73617770
45cerebellar Purkinje cell differentiation (GO:0021702)3.72015447
46neurotransmitter transport (GO:0006836)3.68822766
47regulation of postsynaptic membrane potential (GO:0060078)3.66329035
48cerebellar Purkinje cell layer development (GO:0021680)3.62025480
49regulation of neurotransmitter secretion (GO:0046928)3.61149049
50* regulation of synaptic plasticity (GO:0048167)3.59179642
51long-term memory (GO:0007616)3.58758401
52potassium ion import (GO:0010107)3.58059576
53negative regulation of microtubule polymerization (GO:0031115)3.57921907
54negative regulation of synaptic transmission, GABAergic (GO:0032229)3.57694325
55membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.55360365
56regulation of vesicle fusion (GO:0031338)3.51071179
57cytoskeletal anchoring at plasma membrane (GO:0007016)3.49812106
58neuromuscular process controlling posture (GO:0050884)3.49719461
59long-term synaptic potentiation (GO:0060291)3.49187071
60positive regulation of membrane potential (GO:0045838)3.48206203
61neurotransmitter-gated ion channel clustering (GO:0072578)3.47926228
62regulation of neurotransmitter levels (GO:0001505)3.44744101
63gamma-aminobutyric acid transport (GO:0015812)3.44505893
64negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.42519143
65cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.41283688
66mating behavior (GO:0007617)3.38523065
67cerebellar granule cell differentiation (GO:0021707)3.36790411
68regulation of ARF protein signal transduction (GO:0032012)3.36397477
69innervation (GO:0060384)3.35668266
70positive regulation of neurotransmitter secretion (GO:0001956)3.35106150
71regulation of synapse maturation (GO:0090128)3.32459833
72neuromuscular process controlling balance (GO:0050885)3.30507605
73vesicle transport along microtubule (GO:0047496)3.28417870
74neuron recognition (GO:0008038)3.27158256
75regulation of neurotransmitter transport (GO:0051588)3.26603064
76G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.25317515
77regulation of synaptic transmission, glutamatergic (GO:0051966)3.24893165
78positive regulation of synaptic transmission, GABAergic (GO:0032230)3.24093771
79regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.21629213
80regulation of dendritic spine development (GO:0060998)3.21296386
81dendritic spine organization (GO:0097061)3.19323076
82cell differentiation in hindbrain (GO:0021533)3.19226443
83* membrane depolarization (GO:0051899)3.18923168
84detection of calcium ion (GO:0005513)3.18292997
85G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.17153737
86* membrane depolarization during action potential (GO:0086010)3.16451778
87establishment of synaptic vesicle localization (GO:0097480)3.16257517
88synaptic vesicle transport (GO:0048489)3.16257517
89acidic amino acid transport (GO:0015800)3.14036008
90neurotransmitter uptake (GO:0001504)3.13978254
91cell communication by electrical coupling (GO:0010644)3.13278530
92positive regulation of neurotransmitter transport (GO:0051590)3.13212894
93cell communication involved in cardiac conduction (GO:0086065)3.11380563
94synaptic transmission (GO:0007268)3.09611671
95axon ensheathment in central nervous system (GO:0032291)3.09448068
96central nervous system myelination (GO:0022010)3.09448068
97response to histamine (GO:0034776)3.08254283
98regulation of voltage-gated calcium channel activity (GO:1901385)3.08075324
99regulation of dendritic spine morphogenesis (GO:0061001)3.07747180
100cell migration in hindbrain (GO:0021535)3.05610567
101postsynaptic membrane organization (GO:0001941)3.05416170
102vesicle docking involved in exocytosis (GO:0006904)3.04849008
103behavioral fear response (GO:0001662)3.04622566
104behavioral defense response (GO:0002209)3.04622566
105* regulation of synaptic transmission (GO:0050804)3.02980574
106positive regulation of synaptic transmission (GO:0050806)3.01598301
107transmission of nerve impulse (GO:0019226)2.99283490
108fear response (GO:0042596)2.99017326
109axonal fasciculation (GO:0007413)2.98021691
110positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.96639679
111organelle transport along microtubule (GO:0072384)2.96242232
112dendritic spine morphogenesis (GO:0060997)2.95737335
113regulation of exocytosis (GO:0017157)2.94841556
114neuromuscular process (GO:0050905)2.94676915
115positive regulation of potassium ion transmembrane transport (GO:1901381)2.93516057
116calcium ion-dependent exocytosis (GO:0017156)2.93232972
117learning (GO:0007612)2.91306971
118establishment of vesicle localization (GO:0051650)2.90608826
119vesicle docking (GO:0048278)2.88446746
120presynaptic membrane assembly (GO:0097105)2.87743765
121positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.87263706
122clathrin coat assembly (GO:0048268)2.87041248
123regulation of glutamate secretion (GO:0014048)2.85554729
124intraspecies interaction between organisms (GO:0051703)2.85448094
125social behavior (GO:0035176)2.85448094
126regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.85118678

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.68729259
2GBX2_23144817_ChIP-Seq_PC3_Human3.69209779
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.44422881
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.30701191
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.30359706
6* REST_21632747_ChIP-Seq_MESCs_Mouse3.17153850
7RARB_27405468_Chip-Seq_BRAIN_Mouse2.89460294
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.88231389
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.88231389
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.82469272
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.81845550
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.69886392
13IKZF1_21737484_ChIP-ChIP_HCT116_Human2.67579755
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.66926362
15* REST_18959480_ChIP-ChIP_MESCs_Mouse2.66267001
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.65018006
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.63490876
18NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.41424531
19EZH2_27304074_Chip-Seq_ESCs_Mouse2.37197510
20DROSHA_22980978_ChIP-Seq_HELA_Human2.36861754
21MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.29178367
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.25200653
23CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.24589295
24SUZ12_27294783_Chip-Seq_ESCs_Mouse2.22997071
25RNF2_27304074_Chip-Seq_ESCs_Mouse2.20079221
26EZH2_27294783_Chip-Seq_ESCs_Mouse2.15486956
27EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.99177237
28TAF15_26573619_Chip-Seq_HEK293_Human1.95794421
29CTBP2_25329375_ChIP-Seq_LNCAP_Human1.89746692
30SMAD4_21799915_ChIP-Seq_A2780_Human1.79652252
31ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.76262286
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.75559219
33* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.73672613
34AR_21572438_ChIP-Seq_LNCaP_Human1.66386825
35ERG_21242973_ChIP-ChIP_JURKAT_Human1.64012461
36SMAD_19615063_ChIP-ChIP_OVARY_Human1.59988358
37ZNF274_21170338_ChIP-Seq_K562_Hela1.59726880
38SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.58774592
39* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.58654575
40PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.50536680
41ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.48131709
42GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.44383656
43SRY_22984422_ChIP-ChIP_TESTIS_Rat1.44334605
44* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.44295451
45P300_19829295_ChIP-Seq_ESCs_Human1.43816272
46ZFP281_27345836_Chip-Seq_ESCs_Mouse1.37416215
47SOX2_21211035_ChIP-Seq_LN229_Gbm1.33744322
48* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.33003906
49PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.32329919
50AR_25329375_ChIP-Seq_VCAP_Human1.32006242
51SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31785113
52ZFP57_27257070_Chip-Seq_ESCs_Mouse1.31071133
53* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.26175992
54PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.25985229
55TOP2B_26459242_ChIP-Seq_MCF-7_Human1.25666917
56RING1B_27294783_Chip-Seq_ESCs_Mouse1.23555722
57AR_19668381_ChIP-Seq_PC3_Human1.21502045
58* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.20755187
59GATA1_26923725_Chip-Seq_HPCs_Mouse1.20496961
60SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.20355783
61BMI1_23680149_ChIP-Seq_NPCS_Mouse1.20099594
62OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.19805890
63OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19662409
64STAT3_23295773_ChIP-Seq_U87_Human1.17072024
65IGF1R_20145208_ChIP-Seq_DFB_Human1.16793109
66SMAD3_21741376_ChIP-Seq_EPCs_Human1.15388028
67WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.13260523
68SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.12524828
69TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.11565890
70SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.11545602
71KDM2B_26808549_Chip-Seq_K562_Human1.10722548
72TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.08257221
73TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.07214246
74SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.07117461
75YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05936957
76WT1_25993318_ChIP-Seq_PODOCYTE_Human1.05129464
77PRDM14_20953172_ChIP-Seq_ESCs_Human1.04440035
78PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.04079515
79CTCF_27219007_Chip-Seq_Bcells_Human1.04008270
80SMAD3_21741376_ChIP-Seq_ESCs_Human1.03398810
81KDM2B_26808549_Chip-Seq_SUP-B15_Human1.03187947
82P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03106182
83RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.02683238
84GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.02415266
85TCF4_23295773_ChIP-Seq_U87_Human1.02387165
86SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01753752
87TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.01363422
88TET1_21490601_ChIP-Seq_MESCs_Mouse1.00912192
89JUN_21703547_ChIP-Seq_K562_Human1.00136242
90CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.99422208
91* DPY_21335234_ChIP-Seq_ESCs_Mouse0.97185231
92CTNNB1_20460455_ChIP-Seq_HCT116_Human0.96886686
93RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.96855363
94TP53_16413492_ChIP-PET_HCT116_Human0.96599127
95VDR_22108803_ChIP-Seq_LS180_Human0.95816685
96DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.94948282
97LXR_22292898_ChIP-Seq_THP-1_Human0.94693719
98RNF2_27304074_Chip-Seq_NSC_Mouse0.94149905
99RING1B_27294783_Chip-Seq_NPCs_Mouse0.93533765
100MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.92622328
101RUNX1_26923725_Chip-Seq_HPCs_Mouse0.91695188
102ARNT_22903824_ChIP-Seq_MCF-7_Human0.91570146
103RUNX2_22187159_ChIP-Seq_PCA_Human0.91338083
104THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.90420013
105* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.89912753
106PIAS1_25552417_ChIP-Seq_VCAP_Human0.89910841
107GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.88687605
108CDX2_19796622_ChIP-Seq_MESCs_Mouse0.87607071
109UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.87540332
110SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.86449497
111AHR_22903824_ChIP-Seq_MCF-7_Human0.86294263
112SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.85106770
113MYC_19915707_ChIP-ChIP_AK7_Human0.83374749
114POU3F2_20337985_ChIP-ChIP_501MEL_Human0.83274629
115BCAT_22108803_ChIP-Seq_LS180_Human0.82889244
116ESR2_21235772_ChIP-Seq_MCF-7_Human0.82856271
117ZNF217_24962896_ChIP-Seq_MCF-7_Human0.82604566
118FUS_26573619_Chip-Seq_HEK293_Human0.82353324
119MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.82148646
120TRIM28_21343339_ChIP-Seq_HEK293_Human0.81834876
121SMAD4_21741376_ChIP-Seq_HESCs_Human0.80530372
122* RXR_22108803_ChIP-Seq_LS180_Human0.79448936
123SMAD4_21741376_ChIP-Seq_EPCs_Human0.79154478
124AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.78982473
125TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.78814224
126SOX9_26525672_Chip-Seq_HEART_Mouse0.77602135
127TP53_20018659_ChIP-ChIP_R1E_Mouse0.76373015
128CREB1_26743006_Chip-Seq_LNCaP_Human0.75381876
129UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.75282275
130NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.75227865
131SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.74758381
132LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.73994591
133POU3F1_26484290_ChIP-Seq_ESCss_Mouse0.72818958
134* FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.71175487
135CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.70506951
136TP53_23651856_ChIP-Seq_MEFs_Mouse0.68579669

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.41102633
2MP0003880_abnormal_central_pattern5.20541348
3MP0003635_abnormal_synaptic_transmissio4.19694599
4MP0001968_abnormal_touch/_nociception4.18400536
5MP0004270_analgesia3.93186363
6MP0002735_abnormal_chemical_nociception3.55449865
7MP0002736_abnormal_nociception_after3.50600601
8MP0009745_abnormal_behavioral_response3.40196735
9MP0009046_muscle_twitch3.36056391
10MP0002063_abnormal_learning/memory/cond3.26812496
11MP0002064_seizures3.21651535
12MP0002734_abnormal_mechanical_nocicepti2.96502400
13MP0002272_abnormal_nervous_system2.77593219
14MP0002572_abnormal_emotion/affect_behav2.76942785
15MP0002733_abnormal_thermal_nociception2.64411521
16MP0001970_abnormal_pain_threshold2.42164615
17MP0006276_abnormal_autonomic_nervous2.36494125
18MP0001501_abnormal_sleep_pattern2.31058875
19MP0005423_abnormal_somatic_nervous2.28684161
20MP0001440_abnormal_grooming_behavior2.27014020
21MP0004858_abnormal_nervous_system2.24327220
22MP0002067_abnormal_sensory_capabilities2.23629251
23MP0001486_abnormal_startle_reflex2.13226093
24MP0003329_amyloid_beta_deposits1.99773852
25MP0002184_abnormal_innervation1.98621255
26MP0008569_lethality_at_weaning1.95559508
27MP0004811_abnormal_neuron_physiology1.87738739
28MP0004924_abnormal_behavior1.68810198
29MP0005386_behavior/neurological_phenoty1.68810198
30MP0002909_abnormal_adrenal_gland1.65276895
31MP0009780_abnormal_chondrocyte_physiolo1.63797755
32MP0002557_abnormal_social/conspecific_i1.63521537
33MP0003879_abnormal_hair_cell1.60626821
34MP0000955_abnormal_spinal_cord1.52177188
35MP0003122_maternal_imprinting1.49405962
36MP0000778_abnormal_nervous_system1.44264327
37MP0003690_abnormal_glial_cell1.43090839
38MP0002822_catalepsy1.42895101
39MP0002066_abnormal_motor_capabilities/c1.39151135
40MP0003633_abnormal_nervous_system1.35262215
41MP0001984_abnormal_olfaction1.33592712
42MP0002882_abnormal_neuron_morphology1.32423377
43MP0001177_atelectasis1.30971027
44MP0001905_abnormal_dopamine_level1.28167093
45MP0003787_abnormal_imprinting1.26013219
46MP0001188_hyperpigmentation1.21341952
47MP0004142_abnormal_muscle_tone1.20747013
48MP0004145_abnormal_muscle_electrophysio1.18100740
49MP0005646_abnormal_pituitary_gland1.16940792
50MP0008872_abnormal_physiological_respon1.12065263
51MP0003631_nervous_system_phenotype1.11852248
52MP0001529_abnormal_vocalization1.09167768
53MP0001502_abnormal_circadian_rhythm1.08106607
54MP0000751_myopathy0.99996408
55MP0005645_abnormal_hypothalamus_physiol0.99764009
56MP0008874_decreased_physiological_sensi0.99274740
57MP0010386_abnormal_urinary_bladder0.98034769
58MP0000604_amyloidosis0.97756423
59MP0002152_abnormal_brain_morphology0.96495319
60MP0001986_abnormal_taste_sensitivity0.92804255
61MP0004885_abnormal_endolymph0.90945844
62MP0002229_neurodegeneration0.89834634
63MP0003123_paternal_imprinting0.89148686
64MP0004484_altered_response_of0.83991525
65MP0000013_abnormal_adipose_tissue0.82381755
66MP0004510_myositis0.82019834
67MP0002069_abnormal_eating/drinking_beha0.81451119
68MP0002837_dystrophic_cardiac_calcinosis0.79884401
69MP0008877_abnormal_DNA_methylation0.78816832
70MP0005409_darkened_coat_color0.78708187
71MP0002638_abnormal_pupillary_reflex0.76581108
72MP0005535_abnormal_body_temperature0.75975314
73MP0004215_abnormal_myocardial_fiber0.75047215
74MP0004742_abnormal_vestibular_system0.74251758
75MP0001963_abnormal_hearing_physiology0.73262330
76MP0000569_abnormal_digit_pigmentation0.72176289
77MP0004085_abnormal_heartbeat0.72153328
78MP0004147_increased_porphyrin_level0.71240726
79MP0003632_abnormal_nervous_system0.70756156
80MP0003075_altered_response_to0.70280785
81MP0003183_abnormal_peptide_metabolism0.67491494
82MP0008961_abnormal_basal_metabolism0.66509778
83MP0003172_abnormal_lysosome_physiology0.65538526
84MP0001664_abnormal_digestion0.65485089
85MP0004233_abnormal_muscle_weight0.65007576
86MP0003634_abnormal_glial_cell0.64909459
87MP0010234_abnormal_vibrissa_follicle0.64881865
88MP0001348_abnormal_lacrimal_gland0.64651355
89MP0001346_abnormal_lacrimal_gland0.63743356
90MP0002751_abnormal_autonomic_nervous0.63232730
91MP0002752_abnormal_somatic_nervous0.62266578
92MP0003861_abnormal_nervous_system0.61615220
93MP0005623_abnormal_meninges_morphology0.61208334
94MP0001299_abnormal_eye_distance/0.57511255
95MP0001485_abnormal_pinna_reflex0.56020707
96MP0005499_abnormal_olfactory_system0.55217781
97MP0005394_taste/olfaction_phenotype0.55217781
98MP0002089_abnormal_postnatal_growth/wei0.53547476
99MP0000579_abnormal_nail_morphology0.52896617
100MP0001943_abnormal_respiration0.52850726
101MP0005167_abnormal_blood-brain_barrier0.52140364
102MP0000747_muscle_weakness0.50965869
103MP0002876_abnormal_thyroid_physiology0.50898733
104MP0003956_abnormal_body_size0.50235277
105MP0003283_abnormal_digestive_organ0.49998037
106MP0002090_abnormal_vision0.49237857
107MP0010769_abnormal_survival0.49097712
108MP0000920_abnormal_myelination0.48924516
109MP0003137_abnormal_impulse_conducting0.47474248
110MP0002873_normal_phenotype0.47023881
111MP0002082_postnatal_lethality0.46920709
112MP0010770_preweaning_lethality0.46920709
113MP0010768_mortality/aging0.46102174
114MP0002169_no_abnormal_phenotype0.45567563
115MP0003121_genomic_imprinting0.44482133
116MP0009672_abnormal_birth_weight0.42819662
117MP0005551_abnormal_eye_electrophysiolog0.42749546
118MP0001731_abnormal_postnatal_growth0.42190665
119MP0002081_perinatal_lethality0.41605005
120MP0002083_premature_death0.40220016

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.87475095
2Myokymia (HP:0002411)6.83203777
3Focal seizures (HP:0007359)5.99341465
4Visual hallucinations (HP:0002367)5.84022702
5Atonic seizures (HP:0010819)5.69232062
6Epileptic encephalopathy (HP:0200134)5.09764209
7Febrile seizures (HP:0002373)4.84697245
8Absence seizures (HP:0002121)4.76472920
9Progressive cerebellar ataxia (HP:0002073)4.72755782
10Action tremor (HP:0002345)4.60774881
11Dialeptic seizures (HP:0011146)4.30959082
12Neurofibrillary tangles (HP:0002185)4.08466079
13Generalized tonic-clonic seizures (HP:0002069)3.96488856
14Supranuclear gaze palsy (HP:0000605)3.54885665
15Depression (HP:0000716)3.38701936
16Gaze-evoked nystagmus (HP:0000640)3.38034216
17Poor eye contact (HP:0000817)3.37122794
18Truncal ataxia (HP:0002078)3.32856298
19Amblyopia (HP:0000646)3.29343317
20Pheochromocytoma (HP:0002666)3.24604684
21Impaired vibration sensation in the lower limbs (HP:0002166)3.20921096
22Broad-based gait (HP:0002136)3.15563125
23Hyperventilation (HP:0002883)3.13331147
24Abnormality of the lower motor neuron (HP:0002366)3.12460729
25Ankle clonus (HP:0011448)3.08741420
26Cerebral hypomyelination (HP:0006808)3.05236791
27Impaired smooth pursuit (HP:0007772)3.03110603
28Dysdiadochokinesis (HP:0002075)3.00742413
29Termporal pattern (HP:0011008)2.99505828
30Insidious onset (HP:0003587)2.99505828
31Impaired social interactions (HP:0000735)2.98245898
32Abnormal social behavior (HP:0012433)2.98245898
33Dysmetria (HP:0001310)2.98065903
34Tetraplegia (HP:0002445)2.97827805
35Abnormal eating behavior (HP:0100738)2.96063285
36Neuroendocrine neoplasm (HP:0100634)2.95685601
37Papilledema (HP:0001085)2.94361914
38Mutism (HP:0002300)2.94048408
39Obstructive sleep apnea (HP:0002870)2.92675743
40Anxiety (HP:0000739)2.91538438
41Urinary bladder sphincter dysfunction (HP:0002839)2.83432775
42Urinary urgency (HP:0000012)2.75656877
43Scanning speech (HP:0002168)2.75460558
44Peripheral hypomyelination (HP:0007182)2.66051907
45Postural instability (HP:0002172)2.65259914
46Abnormality of ocular smooth pursuit (HP:0000617)2.61339017
47Akinesia (HP:0002304)2.60009178
48Abnormality of binocular vision (HP:0011514)2.58129567
49Diplopia (HP:0000651)2.58129567
50Progressive inability to walk (HP:0002505)2.56145776
51Dysmetric saccades (HP:0000641)2.53976001
52Genetic anticipation (HP:0003743)2.53546820
53Bradykinesia (HP:0002067)2.52639295
54Lower limb amyotrophy (HP:0007210)2.47651527
55Annular pancreas (HP:0001734)2.44615892
56Delusions (HP:0000746)2.39522546
57Stereotypic behavior (HP:0000733)2.39298487
58Neoplasm of the peripheral nervous system (HP:0100007)2.39060824
59Epileptiform EEG discharges (HP:0011182)2.37932114
60Clonus (HP:0002169)2.37519251
61Sleep apnea (HP:0010535)2.36694625
62Status epilepticus (HP:0002133)2.34765401
63Spastic gait (HP:0002064)2.34360940
64Inability to walk (HP:0002540)2.31293958
65Ventricular fibrillation (HP:0001663)2.29236663
66Drooling (HP:0002307)2.27546249
67Excessive salivation (HP:0003781)2.27546249
68Failure to thrive in infancy (HP:0001531)2.26511335
69Hemiparesis (HP:0001269)2.23387007
70Hemiplegia (HP:0002301)2.20857292
71Hypoventilation (HP:0002791)2.20445270
72EEG with generalized epileptiform discharges (HP:0011198)2.20118860
73Abnormality of pain sensation (HP:0010832)2.19383497
74Impaired pain sensation (HP:0007328)2.19383497
75Abnormality of saccadic eye movements (HP:0000570)2.18944802
76Cerebral inclusion bodies (HP:0100314)2.17573271
77Hypercortisolism (HP:0001578)2.16793419
78Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.15373284
79Degeneration of the lateral corticospinal tracts (HP:0002314)2.15373284
80Limb dystonia (HP:0002451)2.14036738
81Agitation (HP:0000713)2.13480351
82Ulnar claw (HP:0001178)2.13302191
83Pointed chin (HP:0000307)2.13146143
84Rapidly progressive (HP:0003678)2.12459249
85Amyotrophic lateral sclerosis (HP:0007354)2.12312916
86Focal dystonia (HP:0004373)2.11674949
87Impaired vibratory sensation (HP:0002495)2.10514518
88Torticollis (HP:0000473)2.08821061
89Fetal akinesia sequence (HP:0001989)2.07615725
90Apathy (HP:0000741)2.07186334
91Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.07054453
92Absent speech (HP:0001344)2.06596570
93Gait ataxia (HP:0002066)2.06212028
94Abnormality of the corticospinal tract (HP:0002492)2.04588527
95Hypsarrhythmia (HP:0002521)2.04267799
96Psychosis (HP:0000709)2.03883822
97Lower limb asymmetry (HP:0100559)2.03739238
98Spinal canal stenosis (HP:0003416)2.01832833
99Intention tremor (HP:0002080)1.99386860
100Polyphagia (HP:0002591)1.98712659
101Hammertoe (HP:0001765)1.97975893
102Incomplete penetrance (HP:0003829)1.97050052
103Menstrual irregularities (HP:0000858)1.95969185
104Postural tremor (HP:0002174)1.94619224
105Distal upper limb amyotrophy (HP:0007149)1.94502632
106Upper limb amyotrophy (HP:0009129)1.94502632
107Lower limb muscle weakness (HP:0007340)1.93492629
108Morphological abnormality of the pyramidal tract (HP:0002062)1.93004308
109Hand muscle atrophy (HP:0009130)1.92814465
110Neuronal loss in central nervous system (HP:0002529)1.92663253
111Heterochromia iridis (HP:0001100)1.91858888
112Dysautonomia (HP:0002459)1.90604153
113Diminished motivation (HP:0000745)1.89147273
114Choreoathetosis (HP:0001266)1.89091167
115Spastic tetraparesis (HP:0001285)1.88942828
116Insomnia (HP:0100785)1.87229547
117Generalized myoclonic seizures (HP:0002123)1.85568149
118Inappropriate behavior (HP:0000719)1.83952234
119CNS hypomyelination (HP:0003429)1.82803549
120Rigidity (HP:0002063)1.81238939
121Craniofacial dystonia (HP:0012179)1.81189239
122Slow progression (HP:0003677)1.81112646
123Split foot (HP:0001839)1.80144541
124Megalencephaly (HP:0001355)1.78534956
125Aplasia involving bones of the upper limbs (HP:0009823)1.78001570
126Aplasia of the phalanges of the hand (HP:0009802)1.78001570
127Aplasia involving bones of the extremities (HP:0009825)1.78001570

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.57219853
2MAP3K94.19959733
3MAP3K123.62950225
4EPHA43.39637714
5MINK13.14878395
6RIPK43.05730133
7MAP3K43.05703142
8DAPK22.66480672
9MAP2K72.65209646
10KSR22.54574683
11NTRK12.22233931
12MAP2K42.21751814
13DAPK12.19722591
14CASK2.18223407
15CDK192.16034851
16PLK22.07581212
17PAK62.07410377
18ARAF1.95037006
19CAMKK11.81413699
20GRK51.78913577
21CAMKK21.72428361
22MARK11.71563235
23KSR11.66345808
24CDK51.45825770
25NTRK21.36573399
26MAP3K131.35838111
27PNCK1.33829653
28MAP3K21.26079004
29PRKCG1.21921389
30LATS21.17196667
31CCNB11.15440140
32CDK141.10651132
33SIK21.09936719
34PRKD31.09637951
35TESK11.08997857
36SCYL21.08717537
37RAF11.07960167
38PTK2B1.07632918
39CDK181.06651362
40FES1.05336351
41CDK151.01942783
42MAPK131.01602636
43RET1.01430979
44STK380.99799799
45UHMK10.99655139
46CDK11A0.89927987
47CAMK2A0.88791812
48LMTK20.86041264
49BMPR20.84978310
50NEK10.82647247
51SIK30.80284909
52PRPF4B0.78792151
53CAMK10.77402735
54MAP3K10.77054657
55TAOK10.75488913
56TNIK0.73659006
57PDK10.70702851
58CAMK2B0.66870565
59MARK20.66566455
60MATK0.65755418
61TYRO30.63423916
62MOS0.63034763
63MAP2K10.62368388
64SGK2230.61080284
65SGK4940.61080284
66OXSR10.60385923
67PRKCH0.60054755
68MAPK120.59091371
69NEK60.58732811
70NME10.58671259
71ALK0.58638262
72FER0.58493103
73STK110.58454346
74TNK20.56852502
75PDPK10.56333972
76SGK20.53886599
77PRKG20.53784370
78PAK30.53712300
79PKN10.52220900
80MAPKAPK50.51365044
81DAPK30.50156231
82LIMK10.49333567
83CSNK1G20.47412522
84PHKG10.46383668
85PHKG20.46383668
86SGK30.45788782
87MAP3K110.45367322
88FGR0.44611252
89* RPS6KA30.44400088
90BRSK10.43807807
91BRAF0.42453555
92SGK10.42363049
93WNK10.40739588
94DYRK1A0.40022431
95CAMK2G0.39733484
96CAMK1G0.39260768
97TSSK60.39163380
98BMX0.39041249
99RIPK10.38723655
100ROCK20.36322825
101PINK10.35421965
102PRKCE0.35050484
103CAMK2D0.34618192
104RPS6KA20.34523314
105ADRBK10.34371393
106MAPK100.34266494
107FYN0.34189329
108MAP3K50.33643963
109CSNK1E0.33551438
110ROCK10.33319208
111CSNK1G30.32972143
112CAMK40.32060720
113PTK20.32021848
114GRK60.30982972
115PRKCZ0.30135627
116* PRKCA0.28635488
117SRC0.28136625

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.68285925
2Nicotine addiction_Homo sapiens_hsa050333.59952002
3Long-term potentiation_Homo sapiens_hsa047202.91822963
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.60729733
5Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.58549820
6Circadian entrainment_Homo sapiens_hsa047132.55905464
7Olfactory transduction_Homo sapiens_hsa047402.55747848
8Amphetamine addiction_Homo sapiens_hsa050312.44433132
9Glutamatergic synapse_Homo sapiens_hsa047242.38224100
10GABAergic synapse_Homo sapiens_hsa047272.33793794
11Morphine addiction_Homo sapiens_hsa050322.22772539
12Dopaminergic synapse_Homo sapiens_hsa047282.17521399
13Salivary secretion_Homo sapiens_hsa049702.15937484
14Collecting duct acid secretion_Homo sapiens_hsa049661.94838624
15Insulin secretion_Homo sapiens_hsa049111.92990259
16Taste transduction_Homo sapiens_hsa047421.90545920
17Long-term depression_Homo sapiens_hsa047301.87428371
18Gastric acid secretion_Homo sapiens_hsa049711.87262694
19Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.74226325
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.73278425
21Cholinergic synapse_Homo sapiens_hsa047251.73008060
22Renin secretion_Homo sapiens_hsa049241.64010585
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.63984428
24Oxytocin signaling pathway_Homo sapiens_hsa049211.62773522
25Serotonergic synapse_Homo sapiens_hsa047261.55527421
26Vitamin B6 metabolism_Homo sapiens_hsa007501.49614318
27Calcium signaling pathway_Homo sapiens_hsa040201.49390394
28GnRH signaling pathway_Homo sapiens_hsa049121.49327446
29Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.46666371
30Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.41546495
31Gap junction_Homo sapiens_hsa045401.38619990
32Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.32175941
33Vibrio cholerae infection_Homo sapiens_hsa051101.29074548
34Cocaine addiction_Homo sapiens_hsa050301.25982093
35Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.23978108
36Phosphatidylinositol signaling system_Homo sapiens_hsa040701.22672340
37Estrogen signaling pathway_Homo sapiens_hsa049151.22246132
38Glioma_Homo sapiens_hsa052141.20432793
39cAMP signaling pathway_Homo sapiens_hsa040241.11073466
40* Oocyte meiosis_Homo sapiens_hsa041141.08803393
41Cardiac muscle contraction_Homo sapiens_hsa042601.06107184
42Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.01996218
43Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.00581376
44Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.98860989
45Melanogenesis_Homo sapiens_hsa049160.98688399
46Type II diabetes mellitus_Homo sapiens_hsa049300.98661991
47cGMP-PKG signaling pathway_Homo sapiens_hsa040220.96436105
48ErbB signaling pathway_Homo sapiens_hsa040120.95363837
49Neurotrophin signaling pathway_Homo sapiens_hsa047220.91555119
50VEGF signaling pathway_Homo sapiens_hsa043700.89193321
51Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.88202845
52Vascular smooth muscle contraction_Homo sapiens_hsa042700.84067585
53Pancreatic secretion_Homo sapiens_hsa049720.81680855
54Dorso-ventral axis formation_Homo sapiens_hsa043200.81458515
55Thyroid hormone synthesis_Homo sapiens_hsa049180.80413269
56Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.80140772
57Axon guidance_Homo sapiens_hsa043600.77874818
58Phospholipase D signaling pathway_Homo sapiens_hsa040720.77228789
59Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.75329538
60MAPK signaling pathway_Homo sapiens_hsa040100.72038455
61Alzheimers disease_Homo sapiens_hsa050100.71488981
62Choline metabolism in cancer_Homo sapiens_hsa052310.69417301
63Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.64434852
64Oxidative phosphorylation_Homo sapiens_hsa001900.62985776
65Carbohydrate digestion and absorption_Homo sapiens_hsa049730.62529918
66Sphingolipid signaling pathway_Homo sapiens_hsa040710.60718254
67Endocytosis_Homo sapiens_hsa041440.57581495
68Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.56873842
69Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.56568435
70Glucagon signaling pathway_Homo sapiens_hsa049220.55347378
71mTOR signaling pathway_Homo sapiens_hsa041500.54503882
72SNARE interactions in vesicular transport_Homo sapiens_hsa041300.53840242
73Bile secretion_Homo sapiens_hsa049760.53760425
74Rap1 signaling pathway_Homo sapiens_hsa040150.53181956
75Dilated cardiomyopathy_Homo sapiens_hsa054140.52734883
76Inositol phosphate metabolism_Homo sapiens_hsa005620.52192400
77Thyroid hormone signaling pathway_Homo sapiens_hsa049190.51640188
78African trypanosomiasis_Homo sapiens_hsa051430.50602524
79Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.48747116
80Ras signaling pathway_Homo sapiens_hsa040140.48577268
81Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.48245635
82Non-small cell lung cancer_Homo sapiens_hsa052230.47217192
83Tight junction_Homo sapiens_hsa045300.46728464
84Parkinsons disease_Homo sapiens_hsa050120.46055619
85Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.45039212
86Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.44939429
87Phototransduction_Homo sapiens_hsa047440.44564395
88Endometrial cancer_Homo sapiens_hsa052130.42306558
89Insulin signaling pathway_Homo sapiens_hsa049100.42255728
90Alcoholism_Homo sapiens_hsa050340.41957374
91Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.41380136
92Type I diabetes mellitus_Homo sapiens_hsa049400.40403825
93Colorectal cancer_Homo sapiens_hsa052100.39854994
94Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.39800160
95Rheumatoid arthritis_Homo sapiens_hsa053230.39641951
96Salmonella infection_Homo sapiens_hsa051320.39267145
97Phagosome_Homo sapiens_hsa041450.38808279
98Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.37674954
99Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.37134870
100Chemokine signaling pathway_Homo sapiens_hsa040620.36746168
101Central carbon metabolism in cancer_Homo sapiens_hsa052300.35227263
102Prion diseases_Homo sapiens_hsa050200.34411496
103Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.34331242
104Circadian rhythm_Homo sapiens_hsa047100.33805794
105Arginine and proline metabolism_Homo sapiens_hsa003300.33156356
106Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.32873267
107Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.32863416
108Nitrogen metabolism_Homo sapiens_hsa009100.32742157
109Wnt signaling pathway_Homo sapiens_hsa043100.32568494
110Platelet activation_Homo sapiens_hsa046110.31569345
111Renal cell carcinoma_Homo sapiens_hsa052110.31218896
112Huntingtons disease_Homo sapiens_hsa050160.30614124
113Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.29629441
114Prolactin signaling pathway_Homo sapiens_hsa049170.29489810
115* Hippo signaling pathway_Homo sapiens_hsa043900.27957910
116HIF-1 signaling pathway_Homo sapiens_hsa040660.26253656
117AMPK signaling pathway_Homo sapiens_hsa041520.24394594
118Arginine biosynthesis_Homo sapiens_hsa002200.22771329
119Regulation of actin cytoskeleton_Homo sapiens_hsa048100.20027736
120Adherens junction_Homo sapiens_hsa045200.19632200

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