EPHA5

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 belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Alternatively spliced transcript variants encoding different isoforms have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuron cell-cell adhesion (GO:0007158)5.81557776
2vocalization behavior (GO:0071625)5.69475734
3regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.15818163
4protein localization to synapse (GO:0035418)5.09965428
5ionotropic glutamate receptor signaling pathway (GO:0035235)5.02448742
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.80341724
7neuron recognition (GO:0008038)4.79530386
8glutamate receptor signaling pathway (GO:0007215)4.78418449
9regulation of short-term neuronal synaptic plasticity (GO:0048172)4.73078100
10presynaptic membrane assembly (GO:0097105)4.61216037
11regulation of glutamate receptor signaling pathway (GO:1900449)4.58415250
12postsynaptic membrane organization (GO:0001941)4.49812388
13synaptic vesicle exocytosis (GO:0016079)4.48149348
14positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.26577482
15regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.19594891
16synaptic transmission, glutamatergic (GO:0035249)4.11677836
17presynaptic membrane organization (GO:0097090)4.11226789
18gamma-aminobutyric acid signaling pathway (GO:0007214)4.07814636
19axonal fasciculation (GO:0007413)4.06840225
20locomotory exploration behavior (GO:0035641)4.05912190
21dendritic spine morphogenesis (GO:0060997)4.05479144
22exploration behavior (GO:0035640)4.04111748
23neuron-neuron synaptic transmission (GO:0007270)4.02565462
24neuronal action potential propagation (GO:0019227)3.98313504
25cardiac ventricle formation (GO:0003211)3.93963848
26establishment of mitochondrion localization (GO:0051654)3.84611616
27glutamate secretion (GO:0014047)3.81009319
28G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.78002062
29regulation of synaptic vesicle exocytosis (GO:2000300)3.73769249
30layer formation in cerebral cortex (GO:0021819)3.71642307
31transmission of nerve impulse (GO:0019226)3.70349578
32regulation of long-term neuronal synaptic plasticity (GO:0048169)3.68333099
33negative regulation of synaptic transmission, GABAergic (GO:0032229)3.67680782
34limb bud formation (GO:0060174)3.60397390
35regulation of excitatory postsynaptic membrane potential (GO:0060079)3.60103556
36cardiac chamber formation (GO:0003207)3.59231305
37glycosphingolipid biosynthetic process (GO:0006688)3.59058449
38neurotransmitter-gated ion channel clustering (GO:0072578)3.55970160
39regulation of postsynaptic membrane potential (GO:0060078)3.47808907
40long-term memory (GO:0007616)3.46751825
41central nervous system projection neuron axonogenesis (GO:0021952)3.46481105
42synaptic vesicle maturation (GO:0016188)3.43813797
43regulation of neuronal synaptic plasticity (GO:0048168)3.43413088
44cerebral cortex radially oriented cell migration (GO:0021799)3.37755712
45neurotransmitter secretion (GO:0007269)3.36377535
46regulation of synaptic vesicle transport (GO:1902803)3.34919440
47positive regulation of synapse assembly (GO:0051965)3.34372704
48epithelial cell differentiation involved in kidney development (GO:0035850)3.34057654
49regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.32548965
50response to histamine (GO:0034776)3.31320523
51synapse assembly (GO:0007416)3.29329165
52regulation of vesicle fusion (GO:0031338)3.29088492
53gamma-aminobutyric acid transport (GO:0015812)3.28499858
54positive regulation of dendritic spine development (GO:0060999)3.28256517
55regulation of dendritic spine morphogenesis (GO:0061001)3.26510238
56axon extension (GO:0048675)3.25735321
57membrane depolarization during action potential (GO:0086010)3.24375348
58positive regulation of membrane potential (GO:0045838)3.24127525
59positive regulation of synapse maturation (GO:0090129)3.23376658
60regulation of synaptic transmission, glutamatergic (GO:0051966)3.22833976
61neurofilament cytoskeleton organization (GO:0060052)3.21963101
62behavioral defense response (GO:0002209)3.21935804
63behavioral fear response (GO:0001662)3.21935804
64dendrite morphogenesis (GO:0048813)3.21841702
65positive regulation of dendritic spine morphogenesis (GO:0061003)3.20728270
66synaptic vesicle endocytosis (GO:0048488)3.20411330
67positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.19633712
68startle response (GO:0001964)3.19603604
69fear response (GO:0042596)3.18500491
70regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.17688480
71neuron remodeling (GO:0016322)3.17443222
72negative regulation of dendrite development (GO:2000171)3.16043063
73regulation of synapse structural plasticity (GO:0051823)3.15842188
74cell migration in hindbrain (GO:0021535)3.13586546
75regulation of dendritic spine development (GO:0060998)3.13112588
76regulation of sarcomere organization (GO:0060297)3.12558650
77* hippocampus development (GO:0021766)3.12163879
78cerebellar granule cell differentiation (GO:0021707)3.11481616
79membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.10920651
80generation of neurons (GO:0048699)3.09800808
81neurotransmitter transport (GO:0006836)3.08843726
82proline transport (GO:0015824)3.08505041
83pyrimidine nucleobase catabolic process (GO:0006208)3.08225425
84long-term synaptic potentiation (GO:0060291)3.07573366
85glial cell proliferation (GO:0014009)3.07237154
86mating behavior (GO:0007617)3.06723329
87negative regulation of neurotransmitter transport (GO:0051589)3.06707233
88metanephric mesenchyme development (GO:0072075)3.06034319
89proximal/distal pattern formation (GO:0009954)3.05422704
90learning (GO:0007612)3.05216266
91righting reflex (GO:0060013)3.05180055
92head development (GO:0060322)3.02136309
93calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)3.02091883
94auditory behavior (GO:0031223)3.01994269
95membrane depolarization (GO:0051899)2.99658186
96regulation of neurotransmitter secretion (GO:0046928)2.98742924
97regulation of synaptic plasticity (GO:0048167)2.98023675
98central nervous system neuron axonogenesis (GO:0021955)2.98010584
99neural tube formation (GO:0001841)2.96338501
100retinal cone cell development (GO:0046549)2.95597541
101dendrite development (GO:0016358)2.95159856
102somite development (GO:0061053)2.94954951
103short-term memory (GO:0007614)2.94108089
104appendage development (GO:0048736)2.94049193
105limb development (GO:0060173)2.94049193
106synaptic vesicle docking involved in exocytosis (GO:0016081)2.91585640
107negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.90502656
108G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.90469415
109sympathetic nervous system development (GO:0048485)2.89733686
110positive regulation of neurotransmitter secretion (GO:0001956)2.89469729
111dendritic spine organization (GO:0097061)2.88669286
112regulation of glutamate secretion (GO:0014048)2.87264743
113positive regulation of potassium ion transmembrane transport (GO:1901381)2.87213748
114regulation of pigment cell differentiation (GO:0050932)2.86856407
115nucleobase catabolic process (GO:0046113)2.84328993
116retinal ganglion cell axon guidance (GO:0031290)2.84028881
117neuron projection extension (GO:1990138)2.83534473
118cerebral cortex cell migration (GO:0021795)2.82866291
119* regulation of synapse organization (GO:0050807)2.82469386
120regulation of membrane repolarization (GO:0060306)2.82268423
121social behavior (GO:0035176)2.81656116
122intraspecies interaction between organisms (GO:0051703)2.81656116
123mechanosensory behavior (GO:0007638)2.80457254
124synapse organization (GO:0050808)2.80287012
125negative regulation of axon extension (GO:0030517)2.79976945
126cranial nerve morphogenesis (GO:0021602)2.79226010
127regulation of synapse maturation (GO:0090128)2.78786400
128axonogenesis (GO:0007409)2.78655356
129positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.78134246
130positive regulation of vesicle fusion (GO:0031340)2.77433755
131response to auditory stimulus (GO:0010996)2.76957922
132* regulation of synapse assembly (GO:0051963)2.76912755
133innervation (GO:0060384)2.76669655
134serotonin metabolic process (GO:0042428)2.75507897
135regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.75320754
136heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0007157)2.75111568
137synaptic transmission (GO:0007268)2.74087600
138regulation of respiratory system process (GO:0044065)2.72081726
139behavioral response to cocaine (GO:0048148)2.71773238
140regulation of neurotransmitter levels (GO:0001505)2.71040422

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.99340137
2GBX2_23144817_ChIP-Seq_PC3_Human4.07092784
3* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.13093860
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.01911772
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.84939916
6* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.60548242
7* EZH2_27304074_Chip-Seq_ESCs_Mouse2.60040252
8* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.53730773
9* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.53730773
10* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.53330957
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.46992555
12* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.43496564
13TAF15_26573619_Chip-Seq_HEK293_Human2.41555164
14* EED_16625203_ChIP-ChIP_MESCs_Mouse2.37894781
15* REST_21632747_ChIP-Seq_MESCs_Mouse2.29112918
16ZFP57_27257070_Chip-Seq_ESCs_Mouse2.26018446
17* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.24492894
18RBPJ_22232070_ChIP-Seq_NCS_Mouse2.22979229
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.22300177
20* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.20755220
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.10393270
22CTBP2_25329375_ChIP-Seq_LNCAP_Human2.07426873
23* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.05970988
24CTBP1_25329375_ChIP-Seq_LNCAP_Human2.05840761
25RNF2_27304074_Chip-Seq_ESCs_Mouse2.05115450
26AR_21572438_ChIP-Seq_LNCaP_Human1.96509808
27BMI1_23680149_ChIP-Seq_NPCS_Mouse1.93290357
28GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.90725846
29CBX2_27304074_Chip-Seq_ESCs_Mouse1.84669405
30PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.82794708
31IGF1R_20145208_ChIP-Seq_DFB_Human1.81500855
32* P300_19829295_ChIP-Seq_ESCs_Human1.80333347
33DROSHA_22980978_ChIP-Seq_HELA_Human1.77086403
34POU3F2_20337985_ChIP-ChIP_501MEL_Human1.74941214
35NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.74781363
36* SMAD4_21799915_ChIP-Seq_A2780_Human1.74480474
37ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.72033420
38SALL1_21062744_ChIP-ChIP_HESCs_Human1.70405334
39IKZF1_21737484_ChIP-ChIP_HCT116_Human1.68578016
40REST_18959480_ChIP-ChIP_MESCs_Mouse1.68424893
41* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.65421544
42* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.62576594
43CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.62540909
44* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.61069170
45FUS_26573619_Chip-Seq_HEK293_Human1.58724301
46SMAD3_21741376_ChIP-Seq_EPCs_Human1.56455387
47RARB_27405468_Chip-Seq_BRAIN_Mouse1.56341779
48TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.55724469
49VDR_22108803_ChIP-Seq_LS180_Human1.55360688
50ZNF274_21170338_ChIP-Seq_K562_Hela1.52988335
51RNF2_27304074_Chip-Seq_NSC_Mouse1.51664667
52* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.46868049
53CDX2_19796622_ChIP-Seq_MESCs_Mouse1.45783204
54* PIAS1_25552417_ChIP-Seq_VCAP_Human1.42500175
55* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41397161
56FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.40744571
57* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.40590372
58EWS_26573619_Chip-Seq_HEK293_Human1.39000766
59CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.38949131
60* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.36830440
61IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.34482152
62CBP_20019798_ChIP-Seq_JUKART_Human1.34482152
63* AR_25329375_ChIP-Seq_VCAP_Human1.31773004
64UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.29924434
65SMAD_19615063_ChIP-ChIP_OVARY_Human1.28892592
66TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.26443969
67ER_23166858_ChIP-Seq_MCF-7_Human1.26263135
68NANOG_18555785_Chip-Seq_ESCs_Mouse1.23787212
69* STAT3_23295773_ChIP-Seq_U87_Human1.23515708
70* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.20524040
71SOX2_21211035_ChIP-Seq_LN229_Gbm1.20302716
72RING1B_27294783_Chip-Seq_ESCs_Mouse1.19406016
73* TP53_18474530_ChIP-ChIP_U2OS_Human1.19157327
74* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.19022618
75* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.18946563
76TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17948992
77POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.17948992
78* RUNX2_22187159_ChIP-Seq_PCA_Human1.17369064
79KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.17239589
80HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.16985407
81CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15230804
82SOX9_26525672_Chip-Seq_HEART_Mouse1.14546113
83* TCF4_23295773_ChIP-Seq_U87_Human1.14474434
84TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.14375689
85PRDM14_20953172_ChIP-Seq_ESCs_Human1.13094509
86ARNT_22903824_ChIP-Seq_MCF-7_Human1.12816094
87EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.12313012
88MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.11628696
89NR3C1_21868756_ChIP-Seq_MCF10A_Human1.11271807
90JUN_21703547_ChIP-Seq_K562_Human1.07418884
91E2F1_18555785_Chip-Seq_ESCs_Mouse1.07244036
92LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07235444
93ZNF217_24962896_ChIP-Seq_MCF-7_Human1.07195183
94PCGF2_27294783_Chip-Seq_ESCs_Mouse1.06456993
95FLI1_21867929_ChIP-Seq_TH2_Mouse1.06089266
96* RING1B_27294783_Chip-Seq_NPCs_Mouse1.05848351
97WT1_19549856_ChIP-ChIP_CCG9911_Human1.05546039
98AHR_22903824_ChIP-Seq_MCF-7_Human1.05092795
99P53_22127205_ChIP-Seq_FIBROBLAST_Human1.04954015
100FLI1_27457419_Chip-Seq_LIVER_Mouse1.04558438
101BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.04036247
102TP53_16413492_ChIP-PET_HCT116_Human1.03651800
103TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03439688
104CMYC_18555785_Chip-Seq_ESCs_Mouse1.03432399
105P53_22387025_ChIP-Seq_ESCs_Mouse1.03349004
106POU5F1_16153702_ChIP-ChIP_HESCs_Human1.03211339
107KDM2B_26808549_Chip-Seq_REH_Human1.02513623
108* KLF5_20875108_ChIP-Seq_MESCs_Mouse1.01616840
109* AR_19668381_ChIP-Seq_PC3_Human0.99099750
110TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.99050922
111FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.99039778
112MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98980264
113NRF2_20460467_ChIP-Seq_MEFs_Mouse0.97491734
114NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.97491734
115TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.97451877
116* YAP1_20516196_ChIP-Seq_MESCs_Mouse0.97407709
117* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.97300175
118BCAT_22108803_ChIP-Seq_LS180_Human0.96566157
119SUZ12_27294783_Chip-Seq_NPCs_Mouse0.96209061
120ERG_21242973_ChIP-ChIP_JURKAT_Human0.96047631
121SUZ12_18555785_Chip-Seq_ESCs_Mouse0.95569966

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern5.29250998
2MP0004859_abnormal_synaptic_plasticity5.18693098
3MP0003635_abnormal_synaptic_transmissio3.72769977
4MP0004270_analgesia3.43069901
5MP0009745_abnormal_behavioral_response3.23070948
6MP0002063_abnormal_learning/memory/cond3.07011840
7MP0001968_abnormal_touch/_nociception2.90418162
8MP0002064_seizures2.83468260
9MP0002572_abnormal_emotion/affect_behav2.71510545
10MP0009046_muscle_twitch2.62059616
11MP0005423_abnormal_somatic_nervous2.58027836
12MP0001486_abnormal_startle_reflex2.52947224
13MP0002734_abnormal_mechanical_nocicepti2.44747729
14MP0001440_abnormal_grooming_behavior2.44733023
15MP0002736_abnormal_nociception_after2.43907195
16MP0002272_abnormal_nervous_system2.41669798
17MP0002735_abnormal_chemical_nociception2.40174910
18MP0000778_abnormal_nervous_system2.38173259
19MP0001188_hyperpigmentation2.33480880
20MP0001501_abnormal_sleep_pattern2.30896632
21MP0006276_abnormal_autonomic_nervous2.25720366
22MP0002067_abnormal_sensory_capabilities2.03924814
23MP0002733_abnormal_thermal_nociception1.99887679
24MP0002822_catalepsy1.93312452
25* MP0002184_abnormal_innervation1.89917382
26MP0006292_abnormal_olfactory_placode1.88618704
27MP0001970_abnormal_pain_threshold1.87999027
28MP0001529_abnormal_vocalization1.84326269
29MP0002557_abnormal_social/conspecific_i1.83422856
30MP0005409_darkened_coat_color1.82377005
31MP0000049_abnormal_middle_ear1.69894263
32MP0001905_abnormal_dopamine_level1.69220684
33MP0004924_abnormal_behavior1.66094079
34MP0005386_behavior/neurological_phenoty1.66094079
35MP0003385_abnormal_body_wall1.64713101
36MP0002102_abnormal_ear_morphology1.64446780
37MP0005248_abnormal_Harderian_gland1.61732978
38MP0003787_abnormal_imprinting1.59686886
39MP0001984_abnormal_olfaction1.56604079
40MP0004742_abnormal_vestibular_system1.54621591
41MP0005187_abnormal_penis_morphology1.54333792
42MP0000955_abnormal_spinal_cord1.44550286
43* MP0002882_abnormal_neuron_morphology1.44492334
44MP0003329_amyloid_beta_deposits1.43604924
45MP0005645_abnormal_hypothalamus_physiol1.43276041
46MP0001299_abnormal_eye_distance/1.42225803
47MP0005646_abnormal_pituitary_gland1.40529212
48MP0004811_abnormal_neuron_physiology1.39319003
49MP0008569_lethality_at_weaning1.39139053
50MP0010386_abnormal_urinary_bladder1.37060404
51MP0002233_abnormal_nose_morphology1.34630621
52MP0002066_abnormal_motor_capabilities/c1.33649739
53MP0001502_abnormal_circadian_rhythm1.33416400
54MP0004142_abnormal_muscle_tone1.31464050
55MP0003879_abnormal_hair_cell1.31422402
56MP0002876_abnormal_thyroid_physiology1.30421618
57MP0005623_abnormal_meninges_morphology1.28769676
58MP0003119_abnormal_digestive_system1.28755221
59MP0005551_abnormal_eye_electrophysiolog1.27533665
60MP0003755_abnormal_palate_morphology1.27350061
61MP0002638_abnormal_pupillary_reflex1.22193991
62MP0009780_abnormal_chondrocyte_physiolo1.21677935
63MP0004133_heterotaxia1.18462466
64MP0001270_distended_abdomen1.18358552
65MP0003136_yellow_coat_color1.17929734
66MP0000631_abnormal_neuroendocrine_gland1.16181688
67MP0004858_abnormal_nervous_system1.16061109
68MP0002152_abnormal_brain_morphology1.14181390
69MP0001963_abnormal_hearing_physiology1.10638984
70MP0000534_abnormal_ureter_morphology1.07415874
71MP0009379_abnormal_foot_pigmentation1.04154636
72MP0004885_abnormal_endolymph1.03964720
73MP0005503_abnormal_tendon_morphology1.03897770
74* MP0002752_abnormal_somatic_nervous1.03423940
75MP0000026_abnormal_inner_ear1.03408157
76MP0002249_abnormal_larynx_morphology0.99078955
77MP0001346_abnormal_lacrimal_gland0.98946087
78MP0003633_abnormal_nervous_system0.98360621
79MP0000015_abnormal_ear_pigmentation0.97701756
80MP0005171_absent_coat_pigmentation0.96645914
81MP0002277_abnormal_respiratory_mucosa0.96158590
82MP0000569_abnormal_digit_pigmentation0.96090569
83MP0002229_neurodegeneration0.95250680
84MP0001943_abnormal_respiration0.95100067
85MP0005394_taste/olfaction_phenotype0.94787072
86MP0005499_abnormal_olfactory_system0.94787072
87MP0004145_abnormal_muscle_electrophysio0.93783044
88MP0002837_dystrophic_cardiac_calcinosis0.93674319
89MP0003122_maternal_imprinting0.93479553
90MP0003935_abnormal_craniofacial_develop0.93242581
91MP0003631_nervous_system_phenotype0.92396126
92MP0004043_abnormal_pH_regulation0.91214361
93MP0001986_abnormal_taste_sensitivity0.90681594
94MP0010030_abnormal_orbit_morphology0.90655954
95MP0003121_genomic_imprinting0.90175336
96MP0002909_abnormal_adrenal_gland0.89501533
97MP0003115_abnormal_respiratory_system0.88090655
98MP0003938_abnormal_ear_development0.86892552
99MP0000920_abnormal_myelination0.86675719
100MP0002081_perinatal_lethality0.86091681
101MP0002069_abnormal_eating/drinking_beha0.84269547
102MP0003137_abnormal_impulse_conducting0.81867054
103MP0000751_myopathy0.81246742
104MP0006072_abnormal_retinal_apoptosis0.80736189
105MP0003634_abnormal_glial_cell0.79369562
106MP0001485_abnormal_pinna_reflex0.78804676
107MP0002932_abnormal_joint_morphology0.77173757
108MP0002116_abnormal_craniofacial_bone0.77136145
109MP0008872_abnormal_physiological_respon0.75235659
110MP0001664_abnormal_digestion0.73847443
111MP0003861_abnormal_nervous_system0.71891713
112MP0004085_abnormal_heartbeat0.70140324
113MP0002114_abnormal_axial_skeleton0.70029774
114MP0003632_abnormal_nervous_system0.69704934
115MP0004510_myositis0.69308112
116MP0002177_abnormal_outer_ear0.68697076
117MP0005535_abnormal_body_temperature0.68496967
118MP0002751_abnormal_autonomic_nervous0.67639961
119MP0004484_altered_response_of0.66885596
120MP0008874_decreased_physiological_sensi0.65372136
121MP0008789_abnormal_olfactory_epithelium0.63942259
122MP0005174_abnormal_tail_pigmentation0.62159213
123MP0005379_endocrine/exocrine_gland_phen0.61608222
124MP0002090_abnormal_vision0.61298004
125MP0002234_abnormal_pharynx_morphology0.61200141
126MP0001177_atelectasis0.60594710
127MP0005195_abnormal_posterior_eye0.58536388
128MP0005253_abnormal_eye_physiology0.58401203
129MP0004215_abnormal_myocardial_fiber0.56301103

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.42069874
2Focal seizures (HP:0007359)5.25315728
3Myokymia (HP:0002411)5.09000528
4Epileptic encephalopathy (HP:0200134)4.74706744
5Hyperventilation (HP:0002883)4.72489875
6Febrile seizures (HP:0002373)4.56471038
7Atonic seizures (HP:0010819)4.47309531
8Visual hallucinations (HP:0002367)4.33772650
9Progressive cerebellar ataxia (HP:0002073)4.19442991
10Absence seizures (HP:0002121)3.96753608
11Dialeptic seizures (HP:0011146)3.77381878
12Generalized tonic-clonic seizures (HP:0002069)3.71185796
13Broad-based gait (HP:0002136)3.68070235
14Excessive salivation (HP:0003781)3.42109977
15Drooling (HP:0002307)3.42109977
16Supranuclear gaze palsy (HP:0000605)3.32901438
17Amblyopia (HP:0000646)3.21827943
18Cerebral inclusion bodies (HP:0100314)3.21523442
19Neurofibrillary tangles (HP:0002185)3.20515618
20Diplopia (HP:0000651)3.18715574
21Abnormality of binocular vision (HP:0011514)3.18715574
22Limb dystonia (HP:0002451)3.18313154
23Absent speech (HP:0001344)3.07022841
24Action tremor (HP:0002345)3.06670891
25Cortical dysplasia (HP:0002539)3.02898711
26Mutism (HP:0002300)2.89396265
27Hemiparesis (HP:0001269)2.81725974
28Abnormality of the corticospinal tract (HP:0002492)2.79272339
29Progressive inability to walk (HP:0002505)2.78071286
30Pachygyria (HP:0001302)2.76899935
31Lissencephaly (HP:0001339)2.76187226
32Gaze-evoked nystagmus (HP:0000640)2.71064079
33Termporal pattern (HP:0011008)2.67895550
34Insidious onset (HP:0003587)2.67895550
35Dysdiadochokinesis (HP:0002075)2.67280424
36Dysmetria (HP:0001310)2.60735243
37Split foot (HP:0001839)2.54600533
38Abnormality of salivation (HP:0100755)2.52169390
39Inability to walk (HP:0002540)2.52080512
40Dynein arm defect of respiratory motile cilia (HP:0012255)2.49299554
41Absent/shortened dynein arms (HP:0200106)2.49299554
42Protruding tongue (HP:0010808)2.48588107
43Urinary bladder sphincter dysfunction (HP:0002839)2.47169829
44Epileptiform EEG discharges (HP:0011182)2.46568861
45Poor eye contact (HP:0000817)2.46495493
46Gait imbalance (HP:0002141)2.45539619
47Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.43988549
48Degeneration of the lateral corticospinal tracts (HP:0002314)2.43988549
49Polyphagia (HP:0002591)2.41181510
50Intellectual disability, severe (HP:0010864)2.39959307
51Prolonged QT interval (HP:0001657)2.39907260
52Spastic tetraplegia (HP:0002510)2.38797741
53Anxiety (HP:0000739)2.37199759
54Truncal ataxia (HP:0002078)2.35869182
55Open mouth (HP:0000194)2.32234300
56Genetic anticipation (HP:0003743)2.31373437
57Megalencephaly (HP:0001355)2.30975812
58EEG with generalized epileptiform discharges (HP:0011198)2.28689972
59Impaired vibration sensation in the lower limbs (HP:0002166)2.23797443
60Type II lissencephaly (HP:0007260)2.23517959
61Abnormal ciliary motility (HP:0012262)2.22704920
62Retinal dysplasia (HP:0007973)2.22543727
63Akinesia (HP:0002304)2.21928329
64Submucous cleft hard palate (HP:0000176)2.21021783
65Abnormal eating behavior (HP:0100738)2.19750877
66Exotropia (HP:0000577)2.19433374
67Tented upper lip vermilion (HP:0010804)2.18933694
68Abnormality of the astrocytes (HP:0100707)2.18813506
69Astrocytoma (HP:0009592)2.18813506
70Ankle clonus (HP:0011448)2.18084469
71Fetal akinesia sequence (HP:0001989)2.17845947
72Abnormal social behavior (HP:0012433)2.16805511
73Impaired social interactions (HP:0000735)2.16805511
74Inappropriate behavior (HP:0000719)2.15543539
75Hypoplasia of the corpus callosum (HP:0002079)2.15010088
76Hepatoblastoma (HP:0002884)2.13941700
77Gastroesophageal reflux (HP:0002020)2.13561903
78Fair hair (HP:0002286)2.09054728
79Esotropia (HP:0000565)2.09036977
80Hyperthyroidism (HP:0000836)2.07593050
81Depression (HP:0000716)2.06913989
82Thickened helices (HP:0000391)2.06708781
83Blue irides (HP:0000635)2.04433513
84Hypsarrhythmia (HP:0002521)2.04177551
85Spastic gait (HP:0002064)2.03744341
86Widely spaced teeth (HP:0000687)2.03224502
87Tubulointerstitial nephritis (HP:0001970)1.99890027
88Amyotrophic lateral sclerosis (HP:0007354)1.98250192
89Generalized hypopigmentation of hair (HP:0011358)1.96794349
90Medial flaring of the eyebrow (HP:0010747)1.96635787
91Generalized myoclonic seizures (HP:0002123)1.95549399
92Stereotypic behavior (HP:0000733)1.95353213
93Short chin (HP:0000331)1.94303995
94Delusions (HP:0000746)1.93421950
95Abnormality of the labia minora (HP:0012880)1.90850703
96Agitation (HP:0000713)1.89370314
97Abnormality of the lower motor neuron (HP:0002366)1.87892065
98Cupped ear (HP:0000378)1.87582656
99Intellectual disability, progressive (HP:0006887)1.87316609
100Curly hair (HP:0002212)1.83918855
101Large earlobe (HP:0009748)1.83147050
102Abnormal respiratory motile cilium physiology (HP:0012261)1.83138719
103Septo-optic dysplasia (HP:0100842)1.82957254
104Urinary urgency (HP:0000012)1.82919570
105Hypothermia (HP:0002045)1.81465130
106Congenital primary aphakia (HP:0007707)1.81168913
107Absent eyebrow (HP:0002223)1.80382124
108Scanning speech (HP:0002168)1.79498542
109Short 4th metacarpal (HP:0010044)1.79184637
110Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.79184637
111Ulnar claw (HP:0001178)1.78340347
112Polymicrogyria (HP:0002126)1.78163070
113Abnormal respiratory epithelium morphology (HP:0012253)1.77516482
114Abnormal respiratory motile cilium morphology (HP:0005938)1.77516482
115Aplasia/Hypoplasia of the lens (HP:0008063)1.77039255
116Infantile muscular hypotonia (HP:0008947)1.76901974
117Intention tremor (HP:0002080)1.76357868
118Short foot (HP:0001773)1.76223160
119Obstructive sleep apnea (HP:0002870)1.76152016
120Abnormal hair whorl (HP:0010721)1.75912146
121Patellar aplasia (HP:0006443)1.75224761
122Genital tract atresia (HP:0001827)1.74405418
123Pendular nystagmus (HP:0012043)1.74359167
124Specific learning disability (HP:0001328)1.73865067
125Autism (HP:0000717)1.72489248
126Aplasia/Hypoplasia of the brainstem (HP:0007362)1.72481112
127Hypoplasia of the brainstem (HP:0002365)1.72481112
128Poor coordination (HP:0002370)1.70788370
129Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.70150256
130Status epilepticus (HP:0002133)1.70113678
131Papilledema (HP:0001085)1.69714767
132Lower limb muscle weakness (HP:0007340)1.69611883
133Nephrogenic diabetes insipidus (HP:0009806)1.66910032
134Vaginal atresia (HP:0000148)1.66711670
135Impaired smooth pursuit (HP:0007772)1.66587678

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK4.22955563
2MARK14.18478486
3NTRK34.14615589
4EPHA43.82606785
5MAP2K72.77686205
6RIPK42.75949874
7MAP3K42.73068994
8TNIK2.54769458
9CCNB12.41377514
10MAP3K92.31748798
11PNCK2.30389776
12MINK12.28339720
13ERBB32.27252935
14EPHA32.18690400
15MAP3K122.00070964
16NTRK21.96602133
17MAP4K21.95845921
18MAPK131.90159597
19PLK21.76079366
20SIK21.75672040
21MAP2K41.64315108
22NTRK11.58724409
23GRK51.54947174
24PAK61.47592991
25TRIM281.46737773
26FRK1.44095995
27DAPK21.43828257
28FES1.43485645
29PRPF4B1.42472640
30GRK71.40693689
31KSR11.35644475
32BMPR21.35457580
33PHKG11.33903734
34PHKG21.33903734
35CDK51.31338454
36FGR1.26675260
37CAMK2A1.23360652
38INSRR1.18473891
39PINK11.16685415
40CAMK2B1.15282363
41NME11.14696159
42PRKD31.10844777
43PKN11.08605069
44PRKCG1.02754805
45DYRK1A1.02008428
46CSNK1G20.99226226
47UHMK10.97778148
48DYRK20.95976216
49SGK20.94771858
50SRPK10.94039054
51OXSR10.92099860
52KSR20.88878229
53DAPK10.88778988
54MAP3K130.87538789
55PTK2B0.80194293
56PRKCE0.77415970
57CDK190.75402051
58TNK20.74766208
59MARK20.72388460
60STK390.71531778
61MAP3K60.70919365
62RPS6KA40.70618495
63STK110.69731485
64ERBB40.69575967
65CAMK1G0.68865879
66CAMK2D0.68201285
67MUSK0.67455824
68MKNK20.65722368
69LATS20.65176314
70SGK10.65164514
71BMPR1B0.64575556
72CDK140.64526783
73CDK180.64391665
74ADRBK20.63945907
75PAK30.63625973
76MKNK10.63485776
77CAMKK10.63014301
78DYRK30.62873038
79TAOK10.62719722
80CDK150.62703140
81STK38L0.60996967
82CAMK10.60007138
83BCR0.59944374
84CSNK1G30.59638947
85CAMK40.58236655
86ARAF0.57260658
87WNK30.56418591
88CDK11A0.54923443
89CSNK1D0.54274931
90BLK0.53625029
91BRD40.52742897
92LATS10.52366691
93STK380.51992484
94SGK30.51758141
95FYN0.51681326
96SGK2230.50737505
97SGK4940.50737505
98CDK30.50661298
99PRKCZ0.49820503
100EPHB20.49633329
101RAF10.49261204
102ROCK20.48755873
103FER0.48160185
104TYRO30.44587895
105PRKG10.44040176
106MAPK120.43862580
107CAMKK20.43686295
108CSNK1A1L0.43351800
109MAP3K20.43116087
110NEK60.42407568
111CAMK2G0.42345944
112RET0.41918455
113ADRBK10.41427110
114DDR20.40928047
115CSNK1A10.38509859
116PRKACA0.36281214
117YES10.36219528
118CSNK1G10.34998533
119RPS6KA30.34726497
120PRKACB0.34180835
121CSNK1E0.33830194
122MAPK100.32637208
123PRKCQ0.32523355
124AKT30.31773884
125PRKCB0.31524828
126DMPK0.30822945
127MAPK80.29605035
128RPS6KB10.28922816
129PRKAA10.28400968
130MAPK70.27647778
131GSK3B0.25846226
132MAPK90.23377200
133FGFR20.22688026

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.37922000
2Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.94567233
3Glutamatergic synapse_Homo sapiens_hsa047242.70051961
4Synaptic vesicle cycle_Homo sapiens_hsa047212.63125535
5GABAergic synapse_Homo sapiens_hsa047272.54880451
6Circadian entrainment_Homo sapiens_hsa047132.54365423
7Long-term potentiation_Homo sapiens_hsa047202.53542267
8Morphine addiction_Homo sapiens_hsa050322.48437914
9Amphetamine addiction_Homo sapiens_hsa050312.40686611
10Olfactory transduction_Homo sapiens_hsa047402.20182059
11Salivary secretion_Homo sapiens_hsa049702.20017194
12Dopaminergic synapse_Homo sapiens_hsa047282.19906012
13Serotonergic synapse_Homo sapiens_hsa047262.19809955
14Taste transduction_Homo sapiens_hsa047422.17550800
15Long-term depression_Homo sapiens_hsa047301.98835593
16Renin secretion_Homo sapiens_hsa049241.90192300
17Cholinergic synapse_Homo sapiens_hsa047251.84390651
18Collecting duct acid secretion_Homo sapiens_hsa049661.75376580
19Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.74559004
20Calcium signaling pathway_Homo sapiens_hsa040201.71351324
21Cocaine addiction_Homo sapiens_hsa050301.68847791
22Insulin secretion_Homo sapiens_hsa049111.68780381
23Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.68043436
24* Axon guidance_Homo sapiens_hsa043601.66565185
25Phototransduction_Homo sapiens_hsa047441.62243040
26Gastric acid secretion_Homo sapiens_hsa049711.60518593
27Oxytocin signaling pathway_Homo sapiens_hsa049211.59291898
28Aldosterone synthesis and secretion_Homo sapiens_hsa049251.54192789
29GnRH signaling pathway_Homo sapiens_hsa049121.40223430
30Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.40092422
31Gap junction_Homo sapiens_hsa045401.30056708
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.27084766
33cAMP signaling pathway_Homo sapiens_hsa040241.21742256
34Cardiac muscle contraction_Homo sapiens_hsa042601.13342191
35Oxidative phosphorylation_Homo sapiens_hsa001901.07687546
36Alzheimers disease_Homo sapiens_hsa050101.07542486
37Butanoate metabolism_Homo sapiens_hsa006501.06471501
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.04780700
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.04563187
40Melanogenesis_Homo sapiens_hsa049161.04445525
41Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.02096549
42Estrogen signaling pathway_Homo sapiens_hsa049151.01645862
43Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.98318549
44ErbB signaling pathway_Homo sapiens_hsa040120.98038205
45Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.97036233
46Vascular smooth muscle contraction_Homo sapiens_hsa042700.96706024
47Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.94945950
48Phosphatidylinositol signaling system_Homo sapiens_hsa040700.94464214
49Vibrio cholerae infection_Homo sapiens_hsa051100.93094198
50Type II diabetes mellitus_Homo sapiens_hsa049300.91991245
51Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.89260152
52Pancreatic secretion_Homo sapiens_hsa049720.84942950
53Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.83959827
54Hedgehog signaling pathway_Homo sapiens_hsa043400.83913206
55Glioma_Homo sapiens_hsa052140.83492683
56African trypanosomiasis_Homo sapiens_hsa051430.80999953
57Choline metabolism in cancer_Homo sapiens_hsa052310.79806674
58Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.77530461
59Dorso-ventral axis formation_Homo sapiens_hsa043200.76509717
60Phospholipase D signaling pathway_Homo sapiens_hsa040720.74863384
61Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.74277375
62Ras signaling pathway_Homo sapiens_hsa040140.71822356
63Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.71619928
64Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.70907909
65MAPK signaling pathway_Homo sapiens_hsa040100.70512512
66Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.70384107
67Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.69996262
68Hippo signaling pathway_Homo sapiens_hsa043900.69292560
69Colorectal cancer_Homo sapiens_hsa052100.68411615
70Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.67236941
71Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.63598885
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.63426852
73Parkinsons disease_Homo sapiens_hsa050120.62519416
74mTOR signaling pathway_Homo sapiens_hsa041500.61798225
75Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.61518458
76Basal cell carcinoma_Homo sapiens_hsa052170.60837727
77Wnt signaling pathway_Homo sapiens_hsa043100.60375256
78Dilated cardiomyopathy_Homo sapiens_hsa054140.58748598
79Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.58390381
80Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.58215995
81Alcoholism_Homo sapiens_hsa050340.57325245
82Longevity regulating pathway - mammal_Homo sapiens_hsa042110.56599507
83Rheumatoid arthritis_Homo sapiens_hsa053230.55690400
84Huntingtons disease_Homo sapiens_hsa050160.54540764
85Thyroid hormone synthesis_Homo sapiens_hsa049180.54356164
86VEGF signaling pathway_Homo sapiens_hsa043700.54351159
87Rap1 signaling pathway_Homo sapiens_hsa040150.52573020
88Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.52152229
89Selenocompound metabolism_Homo sapiens_hsa004500.50024989
90Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.49672012
91Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.49550625
92Ether lipid metabolism_Homo sapiens_hsa005650.49269221
93AMPK signaling pathway_Homo sapiens_hsa041520.49261223
94Oocyte meiosis_Homo sapiens_hsa041140.47217976
95Fatty acid biosynthesis_Homo sapiens_hsa000610.46940069
96Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.43041875
97Ovarian steroidogenesis_Homo sapiens_hsa049130.42925446
98Renal cell carcinoma_Homo sapiens_hsa052110.42119390
99Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.42075377
100Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.41514898
101Phagosome_Homo sapiens_hsa041450.39583490
102Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.39554741
103Basal transcription factors_Homo sapiens_hsa030220.38585903
104Inositol phosphate metabolism_Homo sapiens_hsa005620.37094052
105Chemokine signaling pathway_Homo sapiens_hsa040620.34968863
106Type I diabetes mellitus_Homo sapiens_hsa049400.33918186
107Carbohydrate digestion and absorption_Homo sapiens_hsa049730.33861069
108Thyroid hormone signaling pathway_Homo sapiens_hsa049190.33789110
109Glucagon signaling pathway_Homo sapiens_hsa049220.33575420
110Prion diseases_Homo sapiens_hsa050200.33087138
111Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.32211458
112Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.31789011
113Melanoma_Homo sapiens_hsa052180.31324146
114Circadian rhythm_Homo sapiens_hsa047100.30921100
115mRNA surveillance pathway_Homo sapiens_hsa030150.29930048
116Prolactin signaling pathway_Homo sapiens_hsa049170.29897008
117Tight junction_Homo sapiens_hsa045300.28551371
118Regulation of actin cytoskeleton_Homo sapiens_hsa048100.28176764
119Mineral absorption_Homo sapiens_hsa049780.27555014
120Regulation of autophagy_Homo sapiens_hsa041400.26965407
121Neurotrophin signaling pathway_Homo sapiens_hsa047220.26790929
122Endometrial cancer_Homo sapiens_hsa052130.26277738
123Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.26211124
124Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.25929381

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